### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPE65) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "RPE65" "retinal pigment epithelium-specific protein 65kDa" "1" "p31" "unknown" "NG_008472.1" "UD_132084408106" "" "http://www.LOVD.nl/RPE65" "Mutations of the RPE65 Gene " "1" "10294" "6121" "180069" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/RPE65_NM_000329.2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-10-12 15:12:53" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018066" "RPE65" "retinal pigment epithelium-specific protein 65kDa" "001" "NM_000329.2" "" "NP_000320.1" "" "" "" "-54" "2554" "1602" "68915642" "68894507" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "01647" "LCA2" "Leber congenital amaurosis, type 2 (LCA-2)" "AR" "204100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02223" "CHM" "choroideremia (CHM)" "XLD" "303100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-26 14:21:26" "03436" "RP20" "retinitis pigmentosa, type 20 (RP20)" "AR" "613794" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03440" "RP40" "retinitis pigmentosa, type 40 (RP40)" "AR" "613801" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05702" "RP87" "retinitis pigmentosa, type 87, choroidal involvement (RP87)" "AD" "618697" "" "" "" "00006" "2020-02-26 09:52:51" "00006" "2020-02-26 09:55:04" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RPE65" "01647" "RPE65" "03436" "RPE65" "05702" ## Individuals ## Do not remove or alter this header ## ## Count = 1073 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00001786" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00024941" "" "" "" "1" "" "01153" "" "" "M" "yes" "India" "" "0" "" "" "Indian" "" "00033108" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033129" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033359" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00033364" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00033680" "" "" "" "1" "" "00239" "" "" "" "yes" "India" "" "0" "" "" "" "" "00033720" "" "" "" "1" "" "00243" "" "" "F" "no" "India" "" "0" "" "" "India, south" "" "00033721" "" "" "" "1" "" "00243" "" "" "F" "yes" "India" "" "0" "" "" "India, south" "" "00038064" "" "" "" "5" "" "01251" "{PMID:Vallespin 2007:18055816}" "" "?" "?" "Spain" "" "0" "" "" "Spanish" "" "00052411" "" "" "" "1" "" "01424" "{PMID:Katagiri 2014:25495949}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Japan" "" "0" "" "" "Japanese" "MIE#0034 (Case 1)" "00052412" "" "" "" "1" "" "01424" "{PMID:Katagiri 2014:25495949}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Japan" "" "0" "" "" "Japan" "JU#0756 (Case 2)" "00052413" "" "" "" "1" "" "01424" "{PMID:Mo 2014:25383945}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "Chinese" "" "00052414" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052415" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052416" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052417" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052418" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "F" "?" "" "" "0" "" "" "?" "" "00052419" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052420" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052421" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052422" "" "" "" "1" "" "01424" "{PMID:Ripamonti 2014:25257057}" "" "M" "?" "" "" "0" "" "" "?" "" "00052423" "" "" "" "1" "" "01424" "{PMID:Koenekoop 2014:25030840}" "" "M" "?" "India" "" "0" "" "" "Indian" "" "00052424" "" "" "" "1" "" "01424" "{PMID:Koenekoop 2014:25030840}" "" "F" "?" "China" "" "0" "" "" "Chinese" "" "00052425" "" "" "" "1" "" "01424" "{PMID:Koenekoop 2014:25030840}" "" "F" "?" "China" "" "0" "" "" "Chinese" "" "00052426" "" "" "" "1" "" "01424" "{PMID:Koenekoop 2014:25030840}" "" "F" "?" "Syria" "" "0" "" "" "Syrian" "" "00052427" "" "" "" "1" "" "01424" "{PMID:Koenekoop 2014:25030840}" "" "F" "?" "Brazil" "" "0" "" "" "Brazilian" "" "00052428" "" "" "" "1" "" "01424" "{PMID:Koenekoop 2014:25030840}" "" "F" "?" "Brazil" "" "0" "" "" "Brazilian" "" "00052429" "" "" "" "1" "" "01424" "{PMID:Koenekoop 2014:25030840}" "" "F" "?" "" "" "0" "" "" "?" "" "00052430" "" "" "" "2" "" "01424" "{PMID:Khan 2014:24997176}" "" "M" "?" "Saudi Arabia" "" "0" "" "" "" "Pat7-1" "00052431" "" "" "00052430" "1" "" "01424" "{PMID:Khan 2014:24997176}" "" "M" "?" "Saudi Arabia" "" "0" "" "" "" "Pat7-2" "00052432" "" "" "" "1" "" "01424" "{PMID:Khan 2014:24997176}" "" "M" "?" "Saudi Arabia" "" "0" "" "" "" "Pat8" "00052433" "" "" "" "1" "" "01424" "{PMID:Jakobsson 2014:24771178}" "" "M" "yes" "Yemen" "" "0" "" "" "Arab" "" "00052434" "" "" "" "1" "" "01424" "{PMID:Jakobsson 2014:24771178}" "" "M" "yes" "Yemen" "" "0" "" "" "Arab" "" "00052435" "" "" "" "1" "" "01424" "{PMID:Jakobsson 2014:24771178}" "" "F" "yes" "Yemen" "" "0" "" "" "Arab" "" "00052436" "" "" "" "1" "" "01424" "{PMID:Verma 2013:24066033}" "" "M" "no" "India" "" "0" "" "" "South Indian" "" "00052437" "" "" "" "1" "" "01424" "{PMID:Verma 2013:24066033}" "" "F" "yes" "India" "" "0" "" "" "South Indian" "" "00052438" "" "" "" "1" "" "01424" "{PMID:Verma 2013:24066033}" "" "M" "yes" "India" "" "0" "" "" "South Indian" "" "00052439" "" "" "" "1" "" "01424" "{PMID:Verma 2013:24066033}" "" "F" "yes" "India" "" "0" "" "" "South Indian" "" "00052440" "" "" "" "1" "" "01424" "{PMID:Verma 2013:24066033}" "" "M" "no" "India" "" "0" "" "" "South Indian" "" "00052441" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052442" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052443" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052444" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052445" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052446" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052447" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052448" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052449" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052450" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052451" "" "" "" "1" "" "01424" "{PMID:Kabir 2013:23878505}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00052452" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "M" "?" "" "" "0" "" "" "?" "" "00052453" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052454" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "M" "?" "" "" "0" "" "" "?" "" "00052455" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "M" "?" "" "" "0" "" "" "?" "" "00052456" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052457" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052458" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052459" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052460" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "M" "?" "" "" "0" "" "" "?" "" "00052461" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "M" "?" "" "" "0" "" "" "?" "" "00052462" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "M" "?" "" "" "0" "" "" "?" "" "00052463" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "M" "?" "" "" "0" "" "" "?" "" "00052464" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052465" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052466" "" "" "" "1" "" "01424" "{PMID:Jacobson 2012:21911650}" "" "F" "?" "" "" "0" "" "" "?" "" "00052467" "" "" "" "1" "" "01424" "{PMID:Li 2011:21602930}" "" "M" "no" "China" "" "0" "" "" "Han Chinese" "" "00052468" "" "" "" "1" "" "01424" "{PMID:Li 2011:21602930}" "" "M" "no" "China" "" "0" "" "" "Han Chinese" "" "00052469" "" "" "" "1" "" "01424" "{PMID:Li 2011:21602930}, {PMID:Li 2029:31273949}" "" "M" "no" "China" "" "0" "" "" "Han Chinese" "?/F05-II1" "00052470" "" "" "" "1" "" "01424" "{PMID:Schatz 2011:21211845}" "" "F" "no" "" "" "0" "" "" "?" "" "00052471" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "F" "no" "Turkey" "" "0" "" "" "Turkish" "" "00052472" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "M" "no" "Turkey" "" "0" "" "" "Turkish" "" "00052473" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "F" "no" "Belgium" "" "0" "" "" "Belgian" "" "00052474" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "F" "no" "Belgium" "" "0" "" "" "Belgian" "" "00052475" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "F" "no" "Portugal" "" "0" "" "" "Portuguese" "" "00052476" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "M" "no" "Belgium" "" "0" "" "" "Belgian" "" "00052477" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "M" "no" "Belgium" "" "0" "" "" "Belgian" "" "00052478" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "M" "no" "Belgium" "" "0" "" "" "Belgian" "" "00052479" "" "" "" "1" "" "01424" "{PMID:Coppieters 2010:20683928}" "" "F" "no" "Belgium" "" "0" "" "" "Belgian" "" "00052480" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052481" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052482" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052483" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052484" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052485" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052486" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052487" "" "" "" "1" "" "01424" "-" "" "?" "?" "" "" "0" "" "" "?" "" "00052488" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052489" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052490" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052491" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052492" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052493" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052494" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052495" "" "" "" "1" "" "01424" "{PMID:Li 2009:18936139}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00052496" "" "" "" "1" "" "01424" "{PMID:Yzer 2006:16505055}" "" "?" "no" "" "" "0" "" "" "European" "" "00052497" "" "" "" "1" "" "01424" "{PMID:Seong 2008:18682808}" "" "?" "?" "Korea" "" "0" "" "" "Korean" "" "00052498" "" "" "" "1" "" "01424" "{PMID:Hauswirth 2008:18774912}" "" "M" "?" "" "" "0" "" "" "?" "" "00052499" "" "" "" "1" "" "01424" "{PMID:Hauswirth 2008:18774912}" "" "F" "?" "" "" "0" "" "" "?" "" "00052500" "" "" "" "1" "" "01424" "{PMID:Hauswirth 2008:18774912}" "" "M" "?" "" "" "0" "" "" "?" "" "00052501" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052502" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052503" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052504" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052505" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052506" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052507" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052508" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052509" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052510" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052511" "" "" "" "1" "" "01424" "{PMID:Galvin 2005:16205573}" "" "?" "?" "" "" "0" "" "" "?" "" "00052512" "" "" "00052772" "1" "" "01424" "{PMID:Perrault 1999:10090910}, {PMID:Porto 2002:12124981}, {PMID:Koenekoop 2003:12789577}" "2-generation family, 1 affected (F) and 33w aborted fetus, unaffected heterozygous carrier parents" "?" "-" "(France)" "" "0" "" "" "" "fetus" "00052513" "" "" "" "1" "" "01424" "{PMID:Silva 2004:15512997}" "" "F" "yes" "Greece" "" "0" "" "" "Greek" "" "00052514" "" "" "" "1" "" "01424" "{PMID:Silva 2004:15512997}" "" "F" "yes" "Greece" "" "0" "" "" "Greek" "" "00052515" "" "" "" "1" "" "01424" "{PMID:Lorenz 2004:15288992}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "France" "" "0" "" "" "?" "FamFPatFT" "00052516" "" "" "" "2" "" "01424" "{PMID:Hamel 2001:11264131}, {PMID:Lorenz 2004:15288992}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F" "?" "France" "" "0" "" "" "?" "Fam1PatII2/CPatCY" "00052517" "" "" "00052516" "1" "" "01424" "{PMID:Lorenz 2004:15288992}" "brother" "M" "?" "France" "" "0" "" "" "?" "Fam1PatII3/CPatCG" "00052518" "" "" "" "3" "" "01424" "{PMID:Lorenz 2004:15288992}, {PMID:Paunescu 2004:15565294}" "generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F" "?" "France" "" "0" "" "" "?" "FamKPatKM" "00052519" "" "" "00052518" "1" "" "01424" "{PMID:Lorenz 2004:15288992}, {PMID:Paunescu 2004:15565294}" "brother" "M" "?" "France" "" "0" "" "" "?" "FamKPatKE" "00052520" "" "" "00052518" "1" "" "01424" "{PMID:Lorenz 2004:15288992}, {PMID:Paunescu 2004:15565294}" "brother" "M" "?" "France" "" "0" "" "" "?" "FamKPatKG" "00052521" "" "" "" "1" "" "01424" "{PMID:Poehner 2000:11062306}" "" "F" "yes" "Italy" "" "0" "" "" "Italian" "" "00052522" "" "" "" "1" "" "01424" "{PMID:Poehner 2000:11062306}" "" "M" "yes" "Italy" "" "0" "" "" "Italian" "" "00052523" "" "" "" "1" "" "01424" "{PMID:Poehner 2000:11062306}" "" "F" "yes" "Italy" "" "0" "" "" "Italian" "" "00052524" "" "" "" "1" "" "01424" "{PMID:Dharmaraj 2000:11035546}" "" "?" "yes" "Greece" "" "0" "" "" "Greek" "" "00052525" "" "" "" "1" "" "01424" "{PMID:Dharmaraj 2000:11035546}" "" "?" "yes" "Syria" "" "0" "" "" "Syrian" "" "00052526" "" "" "" "1" "" "01424" "{PMID:Dharmaraj 2000:11035546}" "" "?" "no" "United States" "" "0" "" "" "American" "" "00052527" "" "" "" "1" "" "01424" "{PMID:Thompson 2002:11727200}" "" "M" "?" "" "" "0" "" "" "?" "" "00052528" "" "" "" "1" "" "01424" "{PMID:Chen 2013:23661368}, {PMID:Li 2020:31273949}, {PMID:Li 2020:31572124}" "" "M" "no" "China" "" "0" "" "" "Chinese" "Fam12-II1/F06-II1" "00052529" "" "" "" "2" "" "01424" "{PMID:Xu 2012:22509104}" "2-generation family, 2 affected" "F" "no" "China" "" "0" "" "" "Chinese" "" "00052530" "" "" "" "1" "" "01424" "{PMID:Xu 2012:22509104}" "2-generation family, 2 affected" "F" "no" "China" "" "0" "" "" "Chinese" "" "00052531" "" "" "" "1" "" "01424" "{PMID:Bonilha 2011:21931134}" "" "F" "no" "" "56y" "0" "" "" "?" "" "00052532" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052533" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052534" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052535" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052536" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052537" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052538" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052539" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052540" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052541" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052542" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052543" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052544" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052545" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052546" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052547" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052548" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052549" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052550" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052551" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052552" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052553" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052554" "" "" "" "1" "" "01424" "{PMID:Bowne 2011:21654732}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00052555" "" "" "" "1" "" "01424" "{PMID:Weleber 2011:20811047}" "" "F" "?" "" "" "0" "" "" "?" "" "00052556" "" "" "" "1" "" "01424" "{PMID:Weleber 2011:20811047}" "" "M" "?" "" "" "0" "" "" "?" "" "00052557" "" "" "" "1" "" "01424" "{PMID:Weleber 2011:20811047}" "" "M" "?" "" "" "0" "" "" "?" "" "00052558" "" "" "" "1" "" "01424" "{PMID:Weleber 2011:20811047}" "" "F" "?" "" "" "0" "" "" "?" "" "00052559" "" "" "" "1" "" "01424" "{PMID:Weleber 2011:20811047}" "" "F" "?" "" "" "0" "" "" "?" "" "00052560" "" "" "" "1" "" "01424" "{PMID:Mckibbin 2010:20065226}" "" "?" "?" "Pakistan" "" "0" "" "" "Northern Pakistan" "" "00052561" "" "" "" "2" "" "01424" "{PMID:Sundaresan 2009:19753312}" "4-generation family, 2 affected" "F" "yes" "India" "" "0" "" "" "Indian" "" "00052562" "" "" "" "1" "" "01424" "{PMID:Sundaresan 2009:19753312}" "4-generation family, 2 affected" "F" "yes" "India" "" "0" "" "" "Indian" "" "00052563" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "" "?" "?" "" "" "0" "" "" "?" "" "00052564" "" "" "" "2" "" "01424" "{PMID:Philpa 2009:19431183}" "3-generation family, 2 affected" "M" "yes" "" "" "0" "" "" "?" "" "00052565" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "3-generation family, 2 affected" "M" "yes" "" "" "0" "" "" "?" "" "00052566" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "2-generation family, 1 affected" "F" "no" "India" "" "0" "" "" "Indian" "" "00052567" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "" "?" "?" "" "" "0" "" "" "?" "" "00052568" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "" "?" "?" "" "" "0" "" "" "?" "" "00052569" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "" "?" "?" "" "" "0" "" "" "?" "" "00052570" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "" "?" "?" "" "" "0" "" "" "?" "" "00052571" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "2-generation family A,1 affected" "F" "no" "Spain" "" "0" "" "" "Spanish" "" "00052572" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "" "?" "?" "" "" "0" "" "" "?" "" "00052573" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "2-generation family A,1 affected" "F" "no" "India" "" "0" "" "" "Asian" "" "00052574" "" "" "" "3" "" "01424" "{PMID:Philpa 2009:19431183}" "2-generation family C,3 affected" "M" "no" "United States" "" "0" "" "" "African American" "" "00052575" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "2-generation family C,3 affected" "M" "no" "United States" "" "0" "" "" "African American" "" "00052576" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "2-generation family C,3 affected" "M" "no" "United States" "" "0" "" "" "African American" "" "00052577" "" "" "" "2" "" "01424" "{PMID:Singh 2009:19339744}" "4-generation family, 2 affected" "M" "yes" "India" "" "0" "" "" "Indian" "" "00052578" "" "" "" "1" "" "01424" "{PMID:Singh 2009:19339744}" "4-generation family, 2 affected" "M" "yes" "India" "" "0" "" "" "Indian" "" "00052579" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "India" "" "0" "" "" "Indian" "" "00052580" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "India" "" "0" "" "" "Indian" "" "00052581" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "India" "" "0" "" "" "Indian" "" "00052582" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "Black" "" "00052583" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "Spain" "" "0" "" "" "Hispanic" "" "00052584" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "India" "" "0" "" "" "Indian" "" "00052585" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "Spain" "" "0" "" "" "Hispanic" "" "00052586" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "white" "" "00052587" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "Black" "" "00052588" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "Spain" "" "0" "" "" "Hispanic" "" "00052589" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "India" "" "0" "" "" "Indian" "" "00052590" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "white" "" "00052591" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "Spain" "" "0" "" "" "Hispanic" "" "00052592" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "white" "" "00052593" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "India" "" "0" "" "" "Black Indian" "" "00052594" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "Black" "" "00052595" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "White" "" "00052596" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "White" "" "00052597" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "India" "" "0" "" "" "Black Indian" "" "00052598" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "Asian" "" "00052599" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "white" "" "00052600" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "Asian" "" "00052601" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "white" "" "00052602" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "white" "" "00052603" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "white" "" "00052604" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "white" "" "00052605" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "white" "" "00052606" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "white" "" "00052607" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "F" "no" "" "" "0" "" "" "white" "" "00052608" "" "" "" "1" "" "01424" "{PMID:Jacobson 2009:19117922}" "" "M" "no" "" "" "0" "" "" "white" "" "00052609" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "?" "" "00052610" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "?" "" "00052611" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "?" "" "00052612" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052613" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052614" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052615" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052616" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052617" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052618" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052619" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052620" "" "" "" "1" "" "01424" "{PMID:Bereta 2008:18722466}" "" "?" "no" "" "" "0" "" "" "-" "" "00052621" "" "" "" "1" "" "01424" "{PMID:Lorenz 2008:18599565}" "3-generation family, 1 affected" "M" "yes" "" "" "0" "" "" "?" "" "00052622" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052623" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052624" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052625" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052626" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052627" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052628" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052629" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052630" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052631" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052632" "" "" "" "1" "" "01424" "{PMID:Jacobson 2008:18539930}" "" "?" "?" "" "" "0" "" "" "?" "" "00052633" "" "" "" "1" "" "01424" "{PMID:Mamatha 2008:18484312}" "" "F" "yes" "India" "" "0" "" "" "Indian" "" "00052634" "" "" "" "1" "" "01424" "{PMID:den Hollander 2007:18055821}" "" "?" "yes" "Canada" "" "0" "" "" "Quebec" "" "00052635" "" "" "" "1" "" "01424" "{PMID:den Hollander 2007:18055821}" "" "?" "yes" "Canada" "" "0" "" "" "Quebec" "" "00052636" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052637" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052638" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}, {PMID:Hull 2016:26906952}" "" "M" "?" "United States" "" "0" "" "" "?" "family/GC16768-Pat1" "00052639" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052640" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052641" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052642" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052643" "" "" "" "1" "" "01424" "{PMID:Vallespin 2007:18055816}" "2-generation family" "F" "no" "Spain" "" "0" "" "" "Spanish" "" "00052644" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052645" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052646" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052647" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052648" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052649" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052650" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052651" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052652" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052653" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052654" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052655" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052656" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052657" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052658" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052659" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052660" "" "" "" "1" "" "01424" "{PMID:Simonelli 2007:17724218}" "" "?" "?" "Italy" "" "0" "" "" "Italian" "" "00052661" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17197551}" "" "?" "?" "" "" "0" "" "" "?" "" "00052662" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17197551}" "" "?" "?" "" "" "0" "" "" "?" "" "00052663" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17197551}" "" "?" "?" "" "" "0" "" "" "?" "" "00052664" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17197551}" "" "?" "?" "" "" "0" "" "" "?" "" "00052665" "" "" "" "1" "" "01424" "{PMID:Chen 2006:16828753}" "" "?" "?" "" "" "0" "" "" "?" "" "00052666" "" "" "" "1" "" "01424" "{PMID:Chen 2006:16828753}" "" "?" "?" "" "" "0" "" "" "?" "" "00052667" "" "" "" "6" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052668" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052669" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052670" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052671" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052672" "" "" "" "6" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "?" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052673" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "?" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052674" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "?" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052675" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "?" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052676" "" "" "" "1" "" "01424" "{PMID:El Matri 2006:16518657}" "6-generation family, 6 affected" "?" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00052677" "" "" "" "1" "" "01424" "{PMID:Yzer 2006:16505055}" "" "?" "?" "" "" "0" "" "" "?" "" "00052678" "" "" "" "1" "" "01424" "{PMID:Booij 2005:16272259}" "" "?" "?" "" "" "0" "" "" "?" "" "00052679" "" "" "" "1" "" "01424" "{PMID:Booij 2005:16272259}" "" "?" "?" "" "" "0" "" "" "?" "" "00052680" "" "" "" "2" "" "01424" "{PMID:Zernant 2005:16123401}" "3-generation family, 2 affected" "F" "yes" "" "" "0" "" "" "Greek" "" "00052681" "" "" "" "1" "" "01424" "{PMID:Zernant 2005:16123401}" "3-generation family, 2 affected" "F" "yes" "" "" "0" "" "" "Greek" "" "00052682" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "M" "?" "" "" "0" "" "" "?" "" "00052683" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "F" "?" "" "" "0" "" "" "?" "" "00052684" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "F" "?" "" "" "0" "" "" "?" "" "00052685" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "F" "?" "" "" "0" "" "" "?" "" "00052686" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "F" "?" "" "" "0" "" "" "?" "" "00052687" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "M" "?" "" "" "0" "" "" "?" "" "00052688" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "F" "?" "" "" "0" "" "" "?" "" "00052689" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "F" "?" "" "" "0" "" "" "?" "" "00052690" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "F" "?" "" "" "0" "" "" "?" "" "00052691" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "M" "?" "" "" "0" "" "" "?" "" "00052692" "" "" "" "1" "" "01424" "{PMID:Jacobson 2005:15837919}" "" "M" "?" "" "" "0" "" "" "?" "" "00052693" "" "" "" "1" "" "01424" "{PMID:Kondo 2004:15557452}" "3-generation family, 1 affected" "F" "yes" "Japan" "" "0" "" "" "Japanese" "Pat03901" "00052694" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "no" "" "" "0" "" "" "?" "" "00052695" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "yes" "" "" "0" "" "" "?" "" "00052696" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "no" "" "" "0" "" "" "?" "" "00052697" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "no" "" "" "0" "" "" "?" "" "00052698" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "no" "" "" "0" "" "" "?" "" "00052699" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "yes" "" "" "0" "" "" "?" "" "00052700" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "no" "" "" "0" "" "" "?" "" "00052701" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "no" "" "" "0" "" "" "?" "" "00052702" "" "" "" "1" "" "01424" "{PMID:Al-Khayer 2004:14962443}" "" "F" "?" "United States" "" "0" "" "" "North America" "" "00052703" "" "" "" "3" "" "01424" "{PMID:Sitorus 2003:14611946}" "2-generation family, 3 affected" "F" "yes" "Indonesia" "" "0" "" "" "Indonesian" "" "00052704" "" "" "" "2" "" "01424" "{PMID:Sitorus 2003:14611946}" "2-generation family, 2 affected" "M" "no" "Indonesia" "" "0" "" "" "Indonesian" "" "00052705" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 2 affected" "M" "yes" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052706" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 2 affected" "F" "yes" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052707" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 1 affected" "F" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052708" "" "" "" "3" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 3 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052709" "" "" "" "3" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 3 affected" "M" "yes" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052710" "" "" "" "4" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 4 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052711" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 4 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052712" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 1 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052713" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 1 affected" "F" "yes" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052714" "" "" "" "3" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 3 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052715" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 3 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052716" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 3 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052717" "" "" "" "1" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 1 affected" "M" "no" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052718" "" "" "" "4" "" "01424" "{PMID:Yzer 2003:12960219}" "2-generation family, 4 affected" "F" "yes" "Netherlands" "" "0" "" "" "Dutch, NW" "" "00052719" "" "" "" "1" "" "01424" "{PMID:Joseph 2002:12357075}" "" "?" "?" "India" "" "0" "" "" "Indian" "" "00052720" "" "" "" "2" "" "01424" "{PMID:Felius 2002:11786058}" "3-generation family, 2 affected" "M" "no" "" "" "0" "" "" "?" "" "00052721" "" "" "" "1" "" "01424" "{PMID:Felius 2002:11786058}" "3-generation family, 2 affected" "M" "no" "" "" "0" "" "" "?" "" "00052722" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052723" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052724" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052725" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052726" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052727" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052728" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052729" "" "" "" "1" "" "01424" "{PMID:Simovich 2001:11462243}" "" "?" "?" "" "" "0" "" "" "?" "" "00052730" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052731" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052732" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052733" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052734" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052735" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052736" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052737" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052738" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052739" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052740" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052741" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052742" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052743" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052744" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052745" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052746" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052747" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052748" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "no" "" "" "0" "" "" "?" "" "00052749" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "?" "" "" "0" "" "" "?" "" "00052750" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "?" "" "" "0" "" "" "?" "" "00052751" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "?" "" "" "0" "" "" "?" "" "00052752" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "?" "" "" "0" "" "" "?" "" "00052753" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "?" "" "" "0" "" "" "?" "" "00052754" "" "" "" "1" "" "01424" "{PMID:Thompson 2000:11095629}" "" "?" "?" "" "" "0" "" "" "?" "" "00052755" "" "" "" "1" "" "01424" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}, {PMID:Paunescu 2004:15565294}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "Netherlands" "FamHPatHJ" "00052756" "" "" "" "1" "" "01424" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}, {PMID:Paunescu 2004:15565294}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "Netherlands" "FamBPatBR" "00052757" "" "" "" "2" "" "01424" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}, {PMID:Paunescu 2004:15565294}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "Netherlands" "FamLPatLH" "00052758" "" "" "00052757" "1" "" "01424" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}, {PMID:Paunescu 2004:15565294}" "sister" "F" "no" "Germany" "" "0" "" "" "Netherlands" "FamLPatLJ" "00052759" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052760" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052761" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052762" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052763" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052764" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052765" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052766" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052767" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052768" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052769" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052770" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "" "?" "?" "" "" "0" "" "" "?" "" "00052771" "" "" "" "1" "" "01424" "{PMID:Lotery 2000:10766140}" "3-generation family, 3 affected" "M" "no" "Jordan" "" "0" "" "" "Jordanian" "" "00052772" "" "" "" "2" "" "01424" "{PMID:Perrault 1999:10090910}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "yes" "(France)" "" "0" "" "" "?" "Fam1" "00052774" "" "" "" "2" "" "01424" "{PMID:Perrault 1999:10090910}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "(France)" "" "0" "" "" "?" "Fam2PatII1" "00052775" "" "" "00052774" "1" "" "01424" "{PMID:Perrault 1999:10090910}" "sister" "F" "yes" "(France)" "" "0" "" "" "?" "Fam2PatII2" "00052776" "" "" "" "3" "" "01424" "{PMID:Perrault 1999:10090910}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "(France)" "" "0" "" "" "?" "Fam3PatII2" "00052777" "" "" "" "3" "" "01424" "{PMID:Perrault 1999:10090910}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier mother" "M" "no" "(France)" "" "0" "" "" "?" "Fam4PatII1" "00052778" "" "" "00052777" "1" "" "01424" "{PMID:Perrault 1999:10090910}" "brother" "M" "no" "(France)" "" "0" "" "" "?" "Fam4PatII2" "00052779" "" "" "00052777" "1" "" "01424" "{PMID:Perrault 1999:10090910}" "sister" "F" "no" "(France)" "" "0" "" "" "?" "Fam4PatII4" "00052780" "" "" "" "1" "" "01424" "{PMID:Perrault 1999:10090910}" "2 generation family, 1 affected, unaffected heterozygous carrier father" "F" "no" "(France)" "" "0" "" "" "?" "Fam5PatII1" "00052781" "" "" "" "2" "" "01424" "{PMID:Perrault 1999:10090910}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "no" "(France)" "" "0" "" "" "?" "Fam6PatII2" "00052782" "" "" "00052781" "1" "" "01424" "{PMID:Perrault 1999:10090910}" "brother" "M" "no" "(France)" "" "0" "" "" "?" "Fam6PatII3" "00052783" "" "" "" "1" "" "01424" "{PMID:Perrault 1999:10090910}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "(France)" "" "0" "" "" "?" "Fam7PatII1" "00052784" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "?" "?" "" "" "0" "" "" "?" "" "00052785" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "?" "?" "" "" "0" "" "" "?" "" "00052786" "" "" "" "5" "" "01424" "{PMID:Morimura 1998:9501220}" "3-generation family, 5 affected" "F" "no" "Dominican Republic" "" "0" "" "" "Latin American" "" "00052787" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "3-generation family, 5 affected" "M" "no" "Dominican Republic" "" "0" "" "" "Latin American" "" "00052788" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "3-generation family, 5 affected" "F" "no" "Dominican Republic" "" "0" "" "" "Latin American" "" "00052789" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "3-generation family, 5 affected" "M" "no" "Dominican Republic" "" "0" "" "" "Latin American" "" "00052790" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "3-generation family, 5 affected" "M" "no" "Dominican Republic" "" "0" "" "" "Latin American" "" "00052791" "" "" "" "2" "" "01424" "{PMID:Morimura 1998:9501220}" "2-generation family, 2 affected" "M" "no" "" "" "0" "" "" "?" "" "00052792" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "2-generation family, 2 affected" "F" "no" "" "" "0" "" "" "?" "" "00052793" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "F" "no" "" "" "0" "" "" "?" "" "00052794" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "M" "no" "" "" "0" "" "" "?" "" "00052795" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "F" "no" "" "" "0" "" "" "?" "" "00052796" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "F" "no" "" "" "0" "" "" "?" "" "00052797" "" "" "" "2" "" "01424" "{PMID:Morimura 1998:9501220}" "2-generation family, 2 affected" "F" "no" "" "" "0" "" "" "?" "" "00052798" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "2-generation family, 2 affected" "M" "no" "" "" "0" "" "" "?" "" "00052799" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "F" "no" "" "" "0" "" "" "?" "" "00052800" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "F" "no" "" "" "0" "" "" "?" "" "00052801" "" "" "" "2" "" "01424" "{PMID:Morimura 1998:9501220}" "2-generation family, 2 affected" "M" "no" "" "" "0" "" "" "?" "" "00052802" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "2-generation family, 2 affected" "M" "no" "" "" "0" "" "" "?" "" "00052803" "" "" "" "1" "" "01424" "{PMID:Morimura 1998:9501220}" "" "M" "no" "" "" "0" "" "" "?" "" "00052804" "" "" "" "1" "" "01424" "{PMID:Marlhens 1998:9801879}, {PMID:Hamel 2001:11264131}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "French" "Fam2PatII2" "00052805" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "M" "yes" "" "" "0" "" "" "?" "" "00052806" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "F" "yes" "" "" "0" "" "" "?" "" "00052807" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "M" "yes" "" "" "0" "" "" "?" "" "00052808" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "M" "yes" "" "" "0" "" "" "?" "" "00052809" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "M" "yes" "" "" "0" "" "" "?" "" "00052810" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "F" "yes" "" "" "0" "" "" "?" "" "00052811" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "F" "yes" "" "" "0" "" "" "?" "" "00052812" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "M" "yes" "" "" "0" "" "" "?" "" "00052813" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "F" "yes" "" "" "0" "" "" "?" "" "00052814" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "F" "no" "" "" "0" "" "" "?" "" "00052815" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "F" "no" "" "" "0" "" "" "?" "" "00052816" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "M" "no" "" "" "0" "" "" "?" "" "00052817" "" "" "" "1" "" "01424" "{PMID:Gu 1997:9326941}" "" "M" "no" "" "" "0" "" "" "?" "" "00052818" "" "" "" "2" "" "01424" "{PMID:Marlhens 1997:9326927}, {PMID:Hamel 2001:11264131}" "3-generation family, 2 affected" "M" "no" "France" "" "0" "" "" "French" "" "00052819" "" "" "" "1" "" "01424" "{PMID:Marlhens 1997:9326927}, {PMID:Hamel 2001:11264131}" "3-generation family, 2 affected" "F" "no" "France" "" "0" "" "" "French" "" "00052820" "" "" "" "1" "" "01424" "{PMID:Sundaresan 2009:19753312}" "3-generation family, 1 affected" "F" "yes" "India" "" "0" "" "" "Indian" "" "00052821" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052822" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052823" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052824" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052825" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052826" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052827" "" "" "" "1" "" "01424" "{PMID:Henderson 2007:18055820}" "" "?" "?" "" "" "0" "" "" "?" "" "00052828" "" "" "" "1" "" "01424" "{PMID:Zernant 2005:16123401}" "" "F" "yes" "Greece" "" "0" "" "" "Greek" "" "00052829" "" "" "" "1" "" "01424" "{PMID:Zernant 2005:16123401}" "" "F" "yes" "Greece" "" "0" "" "" "Greek" "" "00052830" "" "" "" "1" "" "01424" "?" "" "?" "?" "" "" "0" "" "" "?" "" "00052831" "" "" "" "1" "" "01424" "{PMID:González-del Pozo 2011:22164218}" "" "?" "?" "Spain" "" "0" "" "" "Spanish" "" "00052832" "" "" "" "1" "" "01424" "?" "" "?" "?" "Belgium" "" "0" "" "" "Belgian" "" "00052835" "" "" "" "1" "" "01424" "{PMID:Fu 2013:23661369}" "" "?" "?" "China" "" "0" "" "" "Chinese" "" "00052836" "" "" "" "1" "" "01424" "{PMID:Fu 2013:23661369}" "" "?" "?" "China" "" "0" "" "" "Chinese" "" "00052837" "" "" "" "1" "" "01424" "?" "" "?" "?" "" "" "0" "" "" "?" "" "00052838" "" "" "" "1" "" "01424" "?" "" "?" "?" "" "" "0" "" "" "?" "" "00052839" "" "" "" "1" "" "01424" "{PMID:Wang 2013:23847139}" "" "?" "?" "" "" "0" "" "" "?" "" "00052840" "" "" "" "1" "" "01424" "?" "" "M" "?" "" "" "0" "" "" "?" "" "00052841" "" "" "" "1" "" "01424" "?" "" "?" "?" "Japan" "" "0" "" "" "Japanese" "" "00052842" "" "" "" "1" "" "01424" "?" "" "?" "?" "Japan" "" "0" "" "" "Japanese" "" "00052843" "" "" "" "1" "" "01424" "?" "" "?" "?" "Japan" "" "0" "" "" "Japanese" "" "00052844" "" "" "" "1" "" "01424" "?" "" "?" "?" "" "" "0" "" "" "?" "" "00052845" "" "" "" "1" "" "01424" "?" "" "M" "?" "United States" "" "0" "" "" "American" "" "00052846" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "no" "" "" "0" "" "" "?" "" "00052847" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "yes" "" "" "0" "" "" "?" "" "00052848" "" "" "" "1" "" "01424" "{PMID:Hanein 2004:15024725}" "" "?" "yes" "" "" "0" "" "" "?" "" "00052851" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052852" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052853" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052854" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052855" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052856" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052857" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052858" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052859" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052860" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052861" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052862" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052863" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052864" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052865" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052866" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052867" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052868" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052869" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052870" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052871" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052872" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052873" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052874" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052875" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052876" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052877" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052878" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052879" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052880" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052881" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052882" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052883" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052884" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052885" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052886" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052887" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052888" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052889" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052890" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052891" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052892" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052893" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052894" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052895" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052896" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052897" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052898" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052899" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052900" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052901" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052902" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052903" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052904" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052905" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052906" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052907" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052908" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052909" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052910" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052911" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052912" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052913" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052914" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052915" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052916" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052917" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052918" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052919" "" "" "" "1" "" "01424" "{PMID:Stone 2007:17964524}" "" "?" "?" "" "" "0" "" "" "?" "" "00052920" "" "" "" "1" "" "01424" "-" "" "?" "?" "India" "" "0" "" "" "South Indian" "" "00052921" "" "" "" "1" "" "01424" "-" "" "?" "?" "India" "" "0" "" "" "South Indian" "" "00052922" "" "" "" "1" "" "01424" "-" "" "?" "?" "India" "" "0" "" "" "South Indian" "" "00052923" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052924" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052925" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052926" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052927" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052928" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052929" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052930" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052931" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052932" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052933" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052934" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052935" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052936" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052937" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052938" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052939" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052940" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052941" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052942" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052943" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052944" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052945" "" "" "" "1" "" "01424" "{PMID:Jacobson 2007:17848510}" "" "?" "?" "United States" "" "0" "" "" "American" "" "00052946" "" "" "" "1" "" "01424" "{PMID:Wang 2014:25097241}" "" "?" "?" "United States" "" "0" "" "" "" "CaseV" "00052947" "" "" "" "1" "" "01424" "{PMID:Wang 2014:25097241}" "" "?" "?" "United States" "" "0" "" "" "" "CaseVIII" "00052948" "" "" "" "1" "" "01424" "{PMID:Wang 2014:25097241}" "" "?" "?" "United States" "" "0" "" "" "" "CaseIX" "00052949" "" "" "" "1" "" "01424" "{PMID:Wang 2014:25097241}" "" "F" "?" "United States" "" "0" "" "" "" "32" "00052950" "" "" "" "1" "" "01424" "{PMID:Philpa 2009:19431183}" "" "" "" "India" "" "0" "" "" "" "" "00095927" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61020" "00100078" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61116" "00100092" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61160" "00100110" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61231" "00100111" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61235" "00100117" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "Pakistani" "" "00143915" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00155544" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" "" "00155545" "" "" "" "2" "" "01243" "{PMID:Kimchi 2018:29276052}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "M" "yes" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "MOL0942" "00155546" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155547" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "African-N;Jewish" "" "00207692" "" "" "" "2" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00208832" "" "" "" "1" "" "02959" "" "1 generation- 1 affected (F)" "F" "?" "Costa Rica" "" "0" "" "none" "" "RPCR-II-1" "00208833" "" "" "" "1" "" "02959" "" "2 generations- 1 affected (M), mother- confirmed carrier, father- inferred carrier" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-III-1" "00208834" "" "" "" "2" "" "02959" "" "2 generations- 2 affected (2M), Mother and father- confirmed carriers" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-I-1" "00208835" "" "" "" "2" "" "02959" "" "2 generations- 2 affected (2M), mother and father- confirmed carriers" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-I-2" "00208836" "" "" "" "1" "" "02959" "" "2 generations- 3 affected, child- (M), both parents affected" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-VI-1" "00208852" "" "" "" "1" "" "02959" "" "1 generations- 1 affected (F)" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-IV-1" "00208853" "" "" "" "1" "" "02959" "" "1 generation- 1 affected (F)" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-V-1" "00208854" "" "" "" "3" "" "02959" "" "2 generations- 3 affected 2(F), mother is affected" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-VIII-1" "00208855" "" "" "" "3" "" "02959" "" "2 generations- 3 affected 2(F), mother affected" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-VIII-2" "00208856" "" "" "" "2" "" "02959" "" "2 generations- 2 affected 1(M) and 1(F), mother confirmed carrier" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-IX-1" "00208857" "" "" "" "2" "" "02959" "" "2 generations- 2 affected 1(M) and 1(F), mother confirmed carrier" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-IX-2" "00208858" "" "" "" "1" "" "02959" "" "1 generation- 1 affected (F)" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-X-1" "00208859" "" "" "" "1" "" "02959" "" "2 generations- 1 affected (F), 2 confirmed carrier parents" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XI-1" "00208860" "" "" "" "1" "" "02959" "" "2 generations- 1 affected (M), mother confirmed carrier" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XIII-1" "00208861" "" "" "" "2" "" "02959" "" "2 generations- 1(F) and 1(M), both parents are confirmed carriers" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XIV-1" "00208862" "" "" "" "2" "" "02959" "" "2 generations- 1(F) and 1(M), both parents are confirmed carriers, this patient was also diagnosed with Ushers syndrome, parents are unknown carriers- no sequencing done for USH2A for parents" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XIV-2" "00208863" "" "" "" "1" "" "02959" "" "1 generation- 1 (M)" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XV-1" "00208864" "" "" "" "1" "" "02959" "" "1 generation- 1(M), both parents confirmed heterozygous carriers" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XVI-1" "00208865" "" "" "" "2" "" "02959" "" "2 generations- 2 affected 1(F) and 1(M), both parents are confirmed heterozygotes" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XVII-1" "00208866" "" "" "" "2" "" "02959" "" "2 generations- 2 affected 1(F) and 1(M), both parents are confirmed heterozygotes" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XVII-2" "00208867" "" "" "" "1" "" "02959" "" "1 generation- 1 affected 1(F)" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XVIII-1" "00208868" "" "" "" "1" "" "02959" "" "1 generation- 1 affected 1(M), mother is confirmed heterozygous carrier, also diagnosed with Ushers - parents unknown carrier status - sequencing was done only on RPE65 for the parents" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XIX-1" "00208869" "" "" "" "2" "" "02959" "" "2 generation- 2 affected 1(M) and 1(F), both parents are confirmed heterozygous carriers, this Female child is also a confirmed carrier for Ushers" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XXI-1" "00208870" "" "" "" "2" "" "02959" "" "2 generation- 2 affected 1(M) and 1(F), both parents are confirmed heterozygous carriers" "M" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XXI-2" "00208871" "" "" "" "2" "" "02959" "" "2 generations- 2 affected 2(F), parents are confirmed heterozygous carriers" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XXII-1" "00208872" "" "" "" "2" "" "02959" "" "2 generations- 2 affected 2(F), parents are confirmed heterozygous carriers" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XXII-2" "00208873" "" "" "" "1" "" "02959" "" "2 generations- 1 affected (F), parents are confirmed heterozygous carriers" "F" "no" "Costa Rica" "" "0" "" "none" "" "RPCR-XXIII-1" "00231896" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231897" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231898" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231899" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231900" "" "" "" "11" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231901" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231902" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231903" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231904" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231905" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231906" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00231907" "" "" "" "17" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233593" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240455" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00240456" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240457" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240458" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00269582" "" "" "" "1" "" "03508" "" "" "M" "no" "Korea" "" "0" "" "" "" "" "00289913" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289914" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289915" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308555" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308556" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308635" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 homozygous patients" "" "" "Norway" "" "0" "" "" "" "" "00309380" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00309381" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309382" "" "" "" "14" "" "00004" "{PMID:Sharon 2019:31456290}" "14 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309383" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00325447" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "2934" "00325453" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3261" "00325469" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3448" "00325476" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3524" "00325484" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3544" "00325502" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3751" "00326698" "" "" "" "1" "" "00008" "{PMID:Mandal 2005:16123440}" "" "" "" "" "" "0" "" "" "" "" "00327393" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "singleton with a diagnosis of choroideremia" "M" "?" "United States" ">72y" "0" "Yes" "" "" "C137 I-1" "00328321" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000255" "00328807" "" "" "" "1" "" "00006" "{PMID:Aguirre 1998:9808841}, {PMID:Veske 1999:10191083}" "Briard/Briard–Beagle dogs" "F;M" "" "" "" "0" "" "" "" "dog" "00328808" "" "" "" "1" "" "00006" "{PMID:Wenzel 2001:11150319}, {PMID:Nusinowitz 2003:14550405}, {PMID:Kim 2004:15277666}" "BALB/c and 129/Ola mice" "" "-" "" "" "0" "" "" "" "mouse" "00328809" "" "" "" "1" "" "00006" "{PMID:Samardzija 2008:17933883}" "knock-in mouse mofel" "F;M" "" "" "" "0" "" "" "" "mouse" "00328810" "" "" "" "1" "" "00006" "{PMID:Tucker 2015:26364624}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Haiti" "" "0" "" "" "" "patient" "00328833" "" "" "" "1" "" "00000" "{PMID:Marcos 2001:11295838}" "patients/controls" "" "" "Spain" "" "0" "" "" "" "" "00328834" "" "" "" "1" "" "00000" "{PMID:Marcos 2001:11295838}" "patients" "" "" "Spain" "" "0" "" "" "" "" "00328835" "" "" "" "1" "" "00000" "{PMID:Marcos 2001:11295838}" "patients" "" "" "Spain" "" "0" "" "" "" "" "00328836" "" "" "" "1" "" "00000" "{PMID:Hull 2016:26906952}" "" "M" "" "United States" "" "0" "" "" "" "GC14577-Pat2" "00328837" "" "" "" "1" "" "00000" "{PMID:Hull 2016:26906952}" "" "M" "" "United States" "" "0" "" "" "" "GC130-Pat3" "00328838" "" "" "" "1" "" "00000" "{PMID:Hull 2016:26906952}" "" "F" "" "United States" "" "0" "" "" "" "GC15862-Pat4" "00328839" "" "" "" "2" "" "00000" "{PMID:Hull 2016:26906952}" "2-generation family, 2 affected (F, M)" "F" "" "United States" "" "0" "" "" "" "Fam1-GC16236Pat1.1" "00328840" "" "" "00328839" "1" "" "00000" "{PMID:Hull 2016:26906952}" "son" "M" "" "United States" "" "0" "" "" "" "Fam1-GC16236Pat1.2" "00328841" "" "" "" "5" "" "00000" "{PMID:Hull 2016:26906952}" "4-generation family, 5 affected (2F, 3M)" "F" "" "United States" "" "0" "" "" "" "Fam2-GC11527Pat2.1" "00328842" "" "" "00328841" "1" "" "00000" "{PMID:Hull 2016:26906952}" "son" "M" "" "United States" "" "0" "" "" "" "Fam2-GC11527Pat2.2" "00328843" "" "" "00328841" "1" "" "00000" "{PMID:Hull 2016:26906952}" "nephew, asymptomatic father" "M" "" "United States" "" "0" "" "" "" "Fam2-GC11527Pat2.3" "00328844" "" "" "" "1" "" "00000" "{PMID:Shin 2017:28041994}, {PMID:Choi 2018:29681726}" "knock-in mouse model" "" "" "" "" "0" "" "" "" "mouse" "00328845" "" "" "" "1" "" "00000" "{PMID:Liu 2017:29133760}" "" "" "" "China" "" "0" "" "" "" "patient" "00328846" "" "" "" "1" "" "00000" "{PMID:Sanchez-Ramos 2017:29414951}" "2-generation family, 1 affected, unaffected parents" "F" "" "Mexico" "" "0" "" "" "" "patient" "00328847" "" "" "" "1" "" "00000" "{PMID:Katagiri 2017:29681726}" "" "F" "" "Japan" "" "0" "" "" "" "JU#1303" "00328848" "" "" "" "1" "" "00000" "{PMID:Katagiri 2017:29681726}" "" "M" "" "Japan" "" "0" "" "" "" "JU#1085" "00328849" "" "" "" "1" "" "00000" "{PMID:Jauregui 2019:29947567}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328850" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "" "Fam20041PatII1" "00328851" "" "" "" "2" "" "00000" "{PMID:Zhong 2019:30996589}" "4-generation family, 2 affected (2M), unaffected parents" "F" "yes" "China" "" "0" "" "" "" "Fam20061PatIV1" "00328852" "" "" "00328851" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "brother" "M" "yes" "China" "" "0" "" "" "" "Fam20061PatIV2" "00328853" "" "" "" "2" "" "00000" "{PMID:Zhong 2019:30996589}" "5-generation family, 2 affected (F, M), unaffected parents" "M" "yes" "China" "" "0" "" "" "" "Fam20071PatIV1" "00328854" "" "" "00328853" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "sister" "F" "yes" "China" "" "0" "" "" "" "Fam20071PatIV4" "00328855" "" "" "" "2" "" "00000" "{PMID:Zhong 2019:30996589}" "3-generation family, 2 affected (F, M), unaffected parents" "F" "no" "China" "" "0" "" "" "" "Fam20077PatII1" "00328856" "" "" "00328855" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "sister" "M" "no" "China" "" "0" "" "" "" "Fam20077PatII3" "00328857" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "" "Fam20146PatII1" "00328858" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "5-generation family, 1 affected, unaffected parents" "F" "yes" "China" "" "0" "" "" "" "Fam20177PatIV1" "00328859" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "" "Fam20289PatII1" "00328860" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "China" "" "0" "" "" "" "Fam20314PatII1" "00328861" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "5-generation family, 1 affected, unaffected parents" "F" "yes" "China" "" "0" "" "" "" "Fam20357PatV1" "00328862" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "" "Fam20361PatII1" "00328863" "" "" "" "3" "" "00000" "{PMID:Zhong 2019:30996589}" "4-generation family, 3 affected (F, 2m), unaffected parents" "F" "no" "China" "" "0" "" "" "" "Fam20388PatIII2" "00328864" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "4-generation family, 1 affected, unaffected parents" "F" "yes" "China" "" "0" "" "" "" "Fam20425PatIV2" "00328865" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "F" "no" "China" "" "0" "" "" "" "Fam20455PatII1" "00328866" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "" "Fam20511PatII1" "00328867" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F01PatII1" "00328868" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F01PatII2" "00328869" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F02PatII1" "00328870" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F02PatII2" "00328871" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F03PatII2" "00328872" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F03PatII3" "00328873" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F04PatII1" "00328874" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F07PatII4" "00328875" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F08PatII2" "00328876" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F09PatII2" "00328877" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F10PatII1" "00328878" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F11PatII1" "00328879" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F12PatII1" "00328880" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F13PatII1" "00328881" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F14PatII1" "00328882" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F15PatII1" "00328883" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F16PatII2" "00328884" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "F" "" "China" "" "0" "" "" "" "F17PatII1" "00328885" "" "" "" "1" "" "00000" "{PMID:Li 2019:31273949}" "" "M" "" "China" "" "0" "" "" "" "F18PatII1" "00328887" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328888" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328889" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328890" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328891" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328892" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328893" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328894" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328895" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328896" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328897" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328898" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328899" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328900" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328901" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328902" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328903" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328904" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328905" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328906" "" "" "" "1" "" 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possibly reported before" "" "" "" "" "0" "" "" "" "" "00328925" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328926" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328927" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328928" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328929" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328930" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" 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"" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328938" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328939" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328940" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328941" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328942" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328943" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328944" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328945" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328946" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328947" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328948" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328949" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328950" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328951" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328952" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328953" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328954" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328955" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328956" "" "" "" "1" "" "00000" "{PMID:Chung 2019:30268864}" "study natural history disease; individual possibly reported before" "" "" "" "" "0" "" "" "" "" "00328957" "" "" "" "1" "" "00000" "{PMID:Magliyah 2019:31925606}" "" "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00328958" "" "" "" "1" "" "00000" "{PMID:Magliyah 2019:31925606}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00328959" "" "" "" "1" "" "00000" "{PMID:Magliyah 2019:31925606}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00328960" "" "" "" "2" "" "00000" "{PMID:Safari 2020:31957135}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "FamA" "00328961" "" "" "" "3" "" "00000" "{PMID:Safari 2020:31957135}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "FamB" "00328962" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32014860}" "" "M" "" "United States" "" "0" "" "" "" "" "00328963" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatA1" "00328964" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatB1" "00328965" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatB2" "00328966" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatC1" "00328967" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatD1" "00328968" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatE1" "00328969" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatF1" "00328970" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatG1" "00328971" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatH1" "00328972" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "F" "" "" "" "0" "" "" "" "PatH2" "00328973" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported 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"study natural history disease; individual possibly reported before" "F" "" "" "" "0" "" "" "" "PatN1" "00328980" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatO1" "00328981" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatO2" "00328982" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatO3" "00328983" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "F" "" "" "" "0" "" "" "" "PatP1" "00328984" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatQ1" "00328985" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatR1" "00328986" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatS1" "00328987" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatT1" "00328988" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatT2" "00328989" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatU1" "00328990" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatV1" "00328991" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatV2" "00328992" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatV3" "00328993" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatW1" "00328994" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatX1" "00328995" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "F" "" "" "" "0" "" "" "" "PatX2" "00328996" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatY1" "00328997" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "F" "" "" "" "0" "" "" "" "PatY2" "00328998" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatY3" "00328999" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "F" "" "" "" "0" "" "" "" "PatZ1" "00329000" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatAA1" "00329001" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatAB1" "00329002" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatAB2" "00329003" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatAC1" "00329004" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatAD1" "00329005" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported before" "M" "" "" "" "0" "" "" "" "PatAE1" "00329006" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "F" "" "Netherlands" "" "0" "" "" "" "PatAF1" "00329007" "" "" "" "1" "" "00000" "{PMID:Pierrache 2020:32032261}" "study natural history disease; individual possibly reported in Yzer 2003" "M" "" "Netherlands" "" "0" "" "" "" "PatAG1" "00329008" "" "" "" "1" "" "00000" "{PMID:Owczarek-Lipska 2020:32367544}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "" "" "00331289" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "family" "F" "" "Japan" "" "0" "" "" "" "Pat43" "00332214" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB283" "00332215" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB357" "00332260" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam1PatFBP_ABC" "00332261" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam2PatFBP_EFG" "00332262" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam4PatFBP_2" "00332359" "" "" "" "1" "" "00000" "{PMID:Thompson 2017:29178642}" "" "" "" "Australia" "" "0" "" "" "" "Fam1404" "00332360" "" "" "" "1" "" "00000" "{PMID:Thompson 2017:29178642}" "" "" "" "Australia" "" "0" "" "" "" "Fam1723" "00333348" "" "" "" "1" "" "00000" "{PMID:Villanueva 2018:28945494}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "RD105" "00333411" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD12–03" "00333469" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "SRF_175" "00333470" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "SRF_1582" "00333477" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "JMS_010" "00333962" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "424" "00333963" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "425" "00333981" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "445" "00334465" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F5" "00334466" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F6" "00334467" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}, {PMID:Habibi 2017:28471455}" "family" "" "" "Tunisia" "" "0" "" "" "" "F7" "00334887" "" "" "" "1" "" "00000" "{PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "61281" "00334888" "" "" "" "1" "" "00000" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "PKRD282;61282" "00334889" "" "" "" "1" "" "00000" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "PKRD283;61283" "00334890" "" "" "" "1" "" "00000" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "PKRD284;61284" "00334891" "" "" "" "1" "" "00000" "{PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "61285" "00335156" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "7544" "00335157" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "5710" "00335158" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "7817" "00335159" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "386" "00335243" "" "" "" "1" "" "00000" "{PMID:Riera 2017:28181551}" "patient" "" "" "Spain" "" "0" "" "" "" "Fi15/25" "00335398" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP031" "00335413" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP007" "00335453" "" "" "" "1" "" "00000" "{PMID:Biswas 2017:28130426}" "" "" "" "Pakistan" "" "0" "" "" "" "RF.RA.0812" "00335455" "" "" "" "1" "" "00000" "{PMID:Biswas 2017:28130426}" "" "" "" "United States" "" "0" "" "" "white" "RF.T.1111" "00335495" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD076" "00335496" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD001" "00335497" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD074" "00335606" "" "" "" "1" "" "00008" "{PMID:Morimura 1998:9501220}" "" "" "" "" "" "0" "" "" "" "" "00335607" "" "" "" "1" "" "00008" "{PMID:Morimura 1998:9501220}" "" "" "" "" "" "0" "" "" "" "" "00335991" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358921" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "Han" "Fam33" "00359053" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13015227" "00359070" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12013890" "00359076" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13003494" "00359087" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12008985" "00359177" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13007207" "00363448" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "family" "" "" "United States" "" "0" "" "" "" "347+7.8" "00363575" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00042" "00363615" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0603" "00363630" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1315" "00363631" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1535" "00363667" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2105" "00363676" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2533" "00363753" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "14DG2173" "00363888" "" "" "" "1" "" "00006" "{PMID:Beryozkin 2015:26306921}" "family" "" "" "Israel" "" "0" "" "" "Arab Muslim" "MOL1026" "00363889" "" "" "" "1" "" "00006" "{PMID:Beryozkin 2015:26306921}" "family" "" "" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0093" "00372067" "" "" "" "1" "" "00000" "{PMID:Srilekha 2015:26147992}" "family" "" "yes" "India" "" "0" "" "" "India-S" "FamLCA-1" "00372073" "" "" "" "1" "" "00000" "{PMID:Srilekha 2015:26147992}" "family" "" "yes" "India" "" "0" "" "" "India-S" "FamLCA-9" "00372408" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "1550164" "00372446" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "111" "00372487" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "1676734" "00372488" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "110" "00372490" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "175" "00372498" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "171" "00372648" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP379" "00373364" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "carrier" "" "" "Netherlands" "" "0" "" "" "" "" "00373410" "" "" "" "3" "" "00000" "{PMID:Maria 2015:25775262}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "Fam06" "00373411" "" "" "" "4" "" "00000" "{PMID:Maria 2015:25775262}" "family" "" "" "Pakistan" "" "0" "" "" "" "Fam07" "00373895" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-391-846" "00374898" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W115-1" "00374955" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W138-1" "00375288" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K1889" "00375342" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6282" "00376782" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "48" "00376826" "" "" "" "18" "" "00000" "{PMID:Daiger 2014:24664689}" "4-generation family, 18 affected" "" "" "United States" "" "0" "" "" "" "UTAD569" "00377261" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "390" "00377269" "" "" "" "2" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "415" "00377270" "" "" "00377269" "1" "" "00000" "Tracewska 2021, MolVis in press" "brother" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "712" "00377825" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377895" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "novel" "M" "no" "China" "" "0" "" "" "Chinese" "" "00377904" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "Galvin et al., 2005" "F" "no" "China" "" "0" "" "" "Chinese" "" "00377906" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "" "M" "no" "China" "" "0" "" "" "Chinese" "" "00377910" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "" "F" "no" "China" "" "0" "" "" "Chinese" "" "00378029" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0015" "00379526" "" "" "" "1" "" "00000" "{PMID:Foote-2019:10480356}" "" "M" "" "United States" "" "0" "" "" "" "" "00379760" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0107" "00379880" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016092109" "00380316" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380317" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00381025" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381035" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381070" "" "" "" "2" "" "00000" "{PMID:Fu-2013:23661369}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00381143" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "M" "no" "India" "" "0" "" "" "South Indian" "" "00381144" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "M" "yes" "India" "" "0" "" "" "South Indian" "" "00381147" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "M" "no" "India" "" "0" "" "" "South Indian" "" "00381149" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "F" "yes" "India" "" "0" "" "" "South Indian" "" "00381150" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "F" "yes" "India" "" "0" "" "" "South Indian" "" "00381196" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "" "" "no" "" "" "0" "" "" "" "" "00381605" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "" "" "0" "" "" "East Europe" "" "00381615" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "United Arab Emirates" "" "0" "" "" "" "" "00381649" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "?" "Saudi Arabia" "" "0" "" "" "" "" "00381700" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381943" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "M" "" "Germany" "" "0" "" "" "" "12" "00381944" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "F" "" "Germany" "" "0" "" "" "" "13" "00382136" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "261" "00382137" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "261" "00382418" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "247" "00382419" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "248" "00382599" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "461" "00382600" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "462" "00383454" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383455" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383775" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18073476_A" "00384127" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2460" "00384198" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "06686\'0" "00384200" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066864" "00384201" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066869" "00384209" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066879" "00384411" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14379" "00384452" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14633" "00384473" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14749" "00384500" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14947" "00384749" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384777" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384778" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00385003" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19190" "00385004" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19227" "00385005" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19245" "00385006" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19247" "00385010" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19255" "00385021" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19320" "00385023" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19390" "00385032" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19481" "00385043" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19747" "00385045" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19774" "00385055" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "yes" "China" "" "0" "" "" "" "19926" "00385074" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "67200" "00385085" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "191010" "00385092" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "191069" "00385718" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "?" "China" "" "0" "" "" "" "96" "00385729" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "yes" "China" "" "0" "" "" "" "143" "00385734" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "no" "China" "" "0" "" "" "" "165" "00386259" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-235, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-605" "00386287" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-AP, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-461" "00386594" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "039-188" "00386725" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2860_004445" "00388174" "" "" "" "1" "" "00000" "{PMID:Surl 2020:32165824}" "" "M" "" "Korea" "" "0" "" "" "" "31" "00388476" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "84929" "00388810" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 45, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "94" "00388818" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 48, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "102" "00389016" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 101, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "300" "00389017" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 101, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "301" "00389018" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 101, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "302" "00389056" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 113, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "340" "00390390" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012277" "00390391" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000255" "00390464" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G011492" "00390745" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F3, patient III.1" "F" "" "Tunisia" "" "0" "" "" "" "F3_III.1" "00391346" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "2" "00391553" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "50" "00391554" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "Indian" "51" "00391555" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "52" "00391679" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "74" "00391680" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "75" "00391681" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "75" "00391682" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "76" "00391683" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "76" "00391684" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "77" "00391685" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "77" "00391686" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "78" "00391687" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" 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"family 28, individual 32" "M" "" "" "" "0" "" "" "" "28_32" "00426924" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 28, individual 33" "M" "" "" "" "0" "" "" "" "28_33" "00429501" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429524" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429709" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429862" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429940" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429976" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00430147" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00447136" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "LCA-5" "00447137" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "LCA-25" "00447139" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "LCA-161" "00447141" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "LCA-174" "00447256" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-200" "00447261" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1067" "00447271" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1130" "00447312" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1232" "00447569" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-307" "00447609" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1165" "00447692" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-83" "00447701" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-971" "00459546" "" "" "" "1" "" "00006" "{PMID:Pradhan 2009:19788668}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "New Zealand" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1073 "{{individualid}}" "{{diseaseid}}" "00001786" "00112" "00024941" "01647" "00033108" "04214" "00033129" "04214" "00033359" "04214" "00033364" "04210" "00033680" "04210" "00033720" "04210" "00033721" "04210" 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"04214" "00396213" "04214" "00396217" "04214" "00396220" "04214" "00396510" "04214" "00406000" "04214" "00406001" "04214" "00406002" "04214" "00406391" "04214" "00406392" "04214" "00406393" "04214" "00406401" "04214" "00406585" "04214" "00406586" "04214" "00406587" "04214" "00406588" "04214" "00406589" "04214" "00406590" "04214" "00406591" "04214" "00406592" "04214" "00406596" "04214" "00406597" "04214" "00408053" "04214" "00408054" "04214" "00408055" "04214" "00409882" "04214" "00409883" "04214" "00409885" "04214" "00409887" "04214" "00409888" "04214" "00409889" "04214" "00409890" "04214" "00409891" "04214" "00409892" "04214" "00409893" "04214" "00409894" "04214" "00409895" "04214" "00409896" "04214" "00414019" "04214" "00420470" "04214" "00420493" "04214" "00420497" "04214" "00420543" "04214" "00420572" "04214" "00421410" "00112" "00426923" "04214" "00426924" "04214" "00429501" "00112" "00429524" "00112" "00429709" "00112" "00429862" "00112" "00429940" "04210" "00429976" "00112" "00430147" "04210" "00447136" "00198" "00447137" "00198" "00447139" "00198" "00447141" "00198" "00447256" "00198" "00447261" "00198" "00447271" "00198" "00447312" "00198" "00447569" "00198" "00447609" "00198" "00447692" "00198" "00447701" "00198" "00459546" "00381" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00198, 00381, 01647, 02223, 03436, 03440, 04210, 04211, 04214, 04250, 05130, 05611, 05702 ## Count = 1042 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000021061" "01647" "00024941" "01153" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026537" "04214" "00033108" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026558" "04214" "00033129" "00229" "Unknown" "" "onset childhood; retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; tinnitus: BAE normal" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026788" "04214" "00033359" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026793" "04210" "00033364" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027109" "04210" "00033680" "00239" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027149" "04210" "00033720" "00243" "Familial, autosomal recessive" "00y00m00d" "" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027150" "04210" "00033721" "00243" "Familial, autosomal recessive" "00y00m00d" "" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000028607" "04210" "00038064" "01251" "Familial, autosomal recessive" "" "?" "" "" "?" "" "" "" "" "" "" "" "" "0000038988" "04210" "00052411" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, loss of vision and non-recordable ERG" "5m" "" "" "" "" "" "" "" "" "" "" "0000038989" "04210" "00052412" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; night blindness, severe retinal degeneration and non-recordable ERG" "1y" "" "" "" "" "" "" "" "" "" "" "0000038990" "00381" "00052413" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; mildly attenuated retinal vessels, some whitish dots, and numerous grayish deposits in the mid-peripheral retina" "3y" "" "" "" "" "" "" "" "" "" "" "0000038991" "04210" "00052414" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038992" "04210" "00052415" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038993" "04210" "00052416" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038994" "04210" "00052417" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038995" "04210" "00052418" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038996" "04210" "00052419" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038997" "04210" "00052420" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038998" "04210" "00052421" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000038999" "04210" "00052422" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039000" "04210" "00052423" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039001" "04210" "00052424" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039002" "04210" "00052425" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039003" "04210" "00052426" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039004" "04210" "00052427" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039005" "04210" "00052428" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039006" "04210" "00052429" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039007" "04210" "00052430" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG" "7y" "" "" "" "" "" "" "" "" "" "" "0000039008" "04210" "00052431" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG" "4y" "" "" "" "" "" "" "" "" "" "" "0000039009" "04210" "00052432" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG" "5y" "" "" "" "" "" "" "" "" "" "" "0000039010" "04210" "00052433" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG" "1y" "" "night blindness" "" "" "" "" "" "" "" "" "0000039011" "04210" "00052434" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG" "1y" "" "night blindness" "" "" "" "" "" "" "" "" "0000039012" "04210" "00052435" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG" "1y" "" "night blindness, photophobia" "" "" "" "" "" "" "" "" "0000039013" "04210" "00052436" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; asymmetrical nystagmus, vascular attenuation, white pigmentation in the mid periphery" "0d" "" "" "" "" "" "" "" "" "" "" "0000039014" "04210" "00052437" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; asymmetrical pendular nystagmus, night blindness, vascular attenuation, disc pallor" "0d" "" "" "" "" "" "" "" "" "" "" "0000039015" "04210" "00052438" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus absent, night blindness, normal disc, mild vessel attenuation, PE mottling, white dot in the periphery" "0d" "" "" "" "" "" "" "" "" "" "" "0000039016" "04210" "00052439" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; latent jerky nystagmus, alternate exotropia, RPE mottling, vascular attenuation, salt & pepper pigmentation" "0d" "" "" "" "" "" "" "" "" "" "" "0000039017" "04210" "00052440" "01424" "Unknown" "" "Leber congenital amaurosis; asymmetrical pendular nystagmus, photophobia, night blindness, normal fundus" "0d" "" "" "" "" "" "" "" "" "" "" "0000039018" "00381" "00052441" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor" "0d" "" "" "" "" "" "" "" "" "" "" "0000039019" "00381" "00052442" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor" "0d" "" "" "" "" "" "" "" "" "" "" "0000039020" "00381" "00052443" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor" "0d" "" "" "" "" "" "" "" "" "" "" "0000039021" "00381" "00052444" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor" "0d" "" "" "" "" "" "" "" "" "" "" "0000039022" "00058" "00052445" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected" "0d" "" "" "" "" "" "" "" "" "" "" "0000039023" "00058" "00052446" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected" "0d" "" "" "" "" "" "" "" "" "" "" "0000039024" "00058" "00052447" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected" "0d" "" "" "" "" "" "" "" "" "" "" "0000039025" "00058" "00052448" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected" "0d" "" "" "" "" "" "" "" "" "" "" "0000039026" "00381" "00052449" "01424" "Familial, autosomal recessive" "" "retinal dystrophy" "0d" "" "" "" "" "" "" "" "" "" "" "0000039027" "00381" "00052450" "01424" "Familial, autosomal recessive" "" "retinal dystrophy" "0d" "" "" "" "" "" "" "" "" "" "" "0000039028" "00381" "00052451" "01424" "Familial, autosomal recessive" "" "retinal dystrophy" "0d" "" "" "" "" "" "" "" "" "" "" "0000039029" "04210" "00052452" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039030" "04210" "00052453" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039031" "04210" "00052454" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039032" "04210" "00052455" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039033" "04210" "00052456" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039034" "04210" "00052457" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039035" "04210" "00052458" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039036" "04210" "00052459" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039037" "04210" "00052460" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039038" "04210" "00052461" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039039" "04210" "00052462" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039040" "04210" "00052463" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039041" "04210" "00052464" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039042" "04210" "00052465" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039043" "04210" "00052466" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039044" "04210" "00052467" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision, nystagmus, attenuated vessels, pigment deposit" "3m" "" "" "" "" "" "" "" "" "" "" "0000039045" "04210" "00052468" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision, photophobia, nystagmus, extinguished rod and cone ERG" "3m" "" "" "" "" "" "" "" "" "" "" "0000039046" "04210" "00052469" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; poor vision, night blindness, attenuated vessels, carpet-like retinal degeneration, extinguished rod and cone ERG" "12m" "" "" "" "" "" "" "" "" "" "" "0000039047" "00198" "00052470" "01424" "Familial, autosomal recessive" "" "fundus albipunctatus, night blindness since childhood" "10y" "" "" "" "" "" "" "" "" "" "" "0000039048" "04210" "00052471" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "7m" "" "" "" "" "" "" "" "" "" "" "0000039049" "04210" "00052472" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "5m" "" "" "" "" "" "" "" "" "" "" "0000039050" "04210" "00052473" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039051" "04210" "00052474" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039052" "04210" "00052475" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039053" "04210" "00052476" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "9m" "" "" "" "" "" "" "" "" "" "" "0000039054" "04210" "00052477" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "4m" "" "" "" "" "" "" "" "" "" "" "0000039055" "04210" "00052478" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "1y" "" "" "" "" "" "" "" "" "" "" "0000039056" "04210" "00052479" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG" "5m" "" "" "" "" "" "" "" "" "" "" "0000039057" "04210" "00052480" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039058" "04210" "00052481" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039059" "04210" "00052482" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039060" "04210" "00052483" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039061" "04210" "00052484" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039062" "04210" "00052485" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039063" "04210" "00052486" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039064" "04210" "00052487" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039065" "00381" "00052488" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; clear lenses, hypermetropic, syneresis of vitreous, microrotatory infantile nystagmus, vertically oval discs, mild optic atrophy, vascular attenuation, peripheral pigmentation and no bone spicules, nonrecordable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039066" "00381" "00052489" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; mild enophthalmos, clear lenses, clear vitreous, vertically oval discs, slightly hyperopic optic nerve fullness, decreased retinal light reflexes, minimal peripheral pigment changes, infantile nystagmus, nonrecordable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039067" "00381" "00052490" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; enophthalmos, nystagmus, clear lenses, minimal peripheral pigmentary changes, decreased foveal light reflexes, hyperopic full discs and mild hyperemia, minimal astigmatism, nonrecordable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039068" "00381" "00052491" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; micronystagmus, pigmentary granular dystrophy, foveal atrophy, disc atrophy, widespread vascular attenuation and grainy midperiphery" "" "" "" "" "" "" "" "" "" "" "" "0000039069" "00381" "00052492" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; micronystagmus, spared macula, disc atrophy, vascular attenuation, sandy RPE degeneration from inside the arcade to the periphery" "" "" "" "" "" "" "" "" "" "" "" "0000039070" "00381" "00052493" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; no nystagmus, vascular attenuation, disc pallor, midperiphery sandy depigmentation, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039071" "00381" "00052494" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; disc pallor, vessels attenuated, nonrecordable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039072" "00381" "00052495" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; non-recordable ERG, disc pallor, neuroepithelial atrophy, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039073" "04210" "00052496" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; night blindness, nystagmus, normal fundus, mild attenuation of retinal vasculature, hypopigmentation of RPE, diffuse RPE alterations" "9m" "" "" "" "" "" "" "" "" "" "" "0000039074" "04210" "00052497" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; night blindness, severe visual impairment, oculodigital signs, extinguished ERG" "0d" "" "" "" "" "" "" "" "" "" "" "0000039075" "04210" "00052498" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; severe visual abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000039076" "04210" "00052499" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; severe visual abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000039077" "04210" "00052500" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; severe visual abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000039078" "04210" "00052501" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039079" "04210" "00052502" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039080" "04210" "00052503" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039081" "04210" "00052504" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039082" "04210" "00052505" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039083" "04210" "00052506" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039084" "04210" "00052507" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039085" "04210" "00052508" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039086" "04210" "00052509" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039087" "04210" "00052510" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039088" "04210" "00052511" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000039090" "04210" "00052513" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, nonrecordable ERG" "0d" "" "" "" "" "" "" "" "" "" "" "0000039091" "04210" "00052514" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, nonrecordable ERG" "0d" "" "" "" "" "" "" "" "" "" "" "0000039092" "00381" "00052515" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; no light perception, optic disc atrophy, widespread RPE defects/atrophy, no nystagmus, photophobia" "1y" "" "" "" "" "" "" "" "" "" "" "0000039093" "00381" "00052516" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; hand motion, emmetropia, large central irregular RPE defect, nystagmus, photophobia, midperiphery RPE thinning and mottling with silvery reflex" "1y" "" "" "" "" "" "" "" "" "" "" "0000039094" "00381" "00052517" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; large central irregular RPE defect, nystagmus, photophobia, midperiphery RPE thinning and mottling with silvery reflex" "1y" "" "" "" "" "" "" "" "" "" "" "0000039095" "00381" "00052518" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; light perception to hand motion, myopic astigmatism, central patch of dark RPE, periphery spotty RPE clumping and thinning, nystagmus, photophobia" "1y" "" "" "" "" "" "" "" "" "" "" "0000039096" "00381" "00052519" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; light perception to hand motion, myopic astigmatism, periphery spotty RPE clumping, widespread RPE thinning, nystagmus, photophobia" "1y" "" "" "" "" "" "" "" "" "" "" "0000039097" "00381" "00052520" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; myopia, no central reflexes, spotty RPE clumping, circular patches of RPE atrophy, nystagmus, photophobia" "1y" "" "" "" "" "" "" "" "" "" "" "0000039098" "00381" "00052521" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; no light perception, nystagmus, strabismus, cortical and posterior subcapsular cataract, chorioretinal atrophy, attenuated retinal vessels, pale optic disc, myopia and stigmatism, nondetectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039099" "00381" "00052522" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; light perception, nystagmus, exotropia, cortical and posterior subcapsular cataract, attenuated retinal vessels, pale optic disc, myopia and astigmatism, nondetectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039100" "00381" "00052523" "01424" "Familial, autosomal recessive" "" "retinal dystrophy; light perception" "" "" "" "" "" "" "" "" "" "" "" "0000039101" "04210" "00052524" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; night blindness, pigmentary stippling of retina, early pigment migration, attenuated vessels, hypopigmentation of macula, flat ERG, esotropia, constriction in visual field" "3m" "" "" "" "" "" "" "" "" "" "" "0000039102" "04210" "00052525" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; photophobia, night blindness, hypopigmentation of retina with peripapillary atrophy, early attenuation of vasculature and disc pallor" "3y" "" "" "" "" "" "" "" "" "" "" "0000039103" "04210" "00052526" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; photophobia, night blindness, hypopigmentation retina & macula, peripapillary atrophy, early attenuation of vasculature and disc pallor" "33y" "" "" "" "" "" "" "" "" "" "" "0000039104" "00381" "00052527" "01424" "Isolated (sporadic)" "" "retinal dystrophy; severe visual loss and nystagmus" "5y" "" "" "" "" "" "" "" "" "" "" "0000039105" "04210" "00052528" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; poor vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039106" "04210" "00052529" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "9y" "" "poor visual function, decreased visual acuity" "" "" "" "" "" "" "" "" "0000039107" "04210" "00052530" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "9y" "" "poor visual function, decreased visual acuity" "" "" "" "" "" "" "" "" "0000039108" "04210" "00052531" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "22y" "" "night blindness and limited side vision" "" "" "" "" "" "" "" "" "0000039109" "04214" "00052532" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039110" "04214" "00052533" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039111" "04214" "00052534" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039112" "04214" "00052535" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039113" "04214" "00052536" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039114" "04214" "00052537" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039115" "04214" "00052538" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039116" "04214" "00052539" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039117" "04214" "00052540" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039118" "04214" "00052541" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039119" "04214" "00052542" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039120" "04214" "00052543" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039121" "04214" "00052544" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039122" "04214" "00052545" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039123" "04214" "00052546" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039124" "04214" "00052547" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039125" "04214" "00052548" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039126" "04214" "00052549" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039127" "04214" "00052550" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039128" "04214" "00052551" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039129" "04214" "00052552" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039130" "04214" "00052553" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039131" "04214" "00052554" "01424" "Familial, autosomal dominant" "" "retinitis pigmentosa; impaired dark adaptation" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039132" "00381" "00052555" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time" "18y" "" "poor vision, nystagmus, sluggish pupils" "" "" "" "" "" "" "" "" "0000039133" "00381" "00052556" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time" "8y9m" "" "limited vision in dim light, poor side vision" "" "" "" "" "" "" "" "" "0000039134" "00381" "00052557" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time" "3y8m" "" "limited vision in dim light, poor side vision" "" "" "" "" "" "" "" "" "0000039135" "00381" "00052558" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time" "3y" "" "no night vision, no nystagmus, good day vision" "" "" "" "" "" "" "" "" "0000039136" "00381" "00052559" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time" "" "" "difficulty in adjusting to dim illumination, no nystagmus, poor night vision" "" "" "" "" "" "" "" "" "0000039137" "04210" "00052560" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "nyctalopia, keratoconus, prevalence of photoaversion, visual acuity 6/76," "" "" "" "" "" "" "" "" "0000039138" "04210" "00052561" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "2y" "" "poor vision" "" "" "" "" "" "" "" "" "0000039139" "04210" "00052562" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "poor vision" "" "" "" "" "" "" "" "" "0000039140" "04210" "00052563" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039141" "04210" "00052564" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039142" "04210" "00052565" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039143" "04210" "00052566" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039144" "04210" "00052567" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039145" "04210" "00052568" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039146" "04210" "00052569" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039147" "04210" "00052570" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039148" "04210" "00052571" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039149" "04210" "00052572" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039150" "04210" "00052573" "01424" "Unknown" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039151" "04210" "00052574" "01424" "Unknown" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039152" "04210" "00052575" "01424" "Unknown" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039153" "04210" "00052576" "01424" "Unknown" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039154" "04214" "00052577" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "7y" "" "night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039155" "04214" "00052578" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "5y" "" "night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039156" "04210" "00052579" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "4y" "" "" "" "" "" "" "" "" "" "" "0000039157" "04210" "00052580" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "5y" "" "" "" "" "" "" "" "" "" "" "0000039158" "04210" "00052581" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "6y" "" "" "" "" "" "" "" "" "" "" "0000039159" "04210" "00052582" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "7y" "" "" "" "" "" "" "" "" "" "" "0000039160" "04210" "00052583" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "7y" "" "" "" "" "" "" "" "" "" "" "0000039161" "04210" "00052584" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "7y" "" "" "" "" "" "" "" "" "" "" "0000039162" "04210" "00052585" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "7y" "" "" "" "" "" "" "" "" "" "" "0000039163" "04210" "00052586" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "10y" "" "" "" "" "" "" "" "" "" "" "0000039164" "04210" "00052587" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "6y" "" "" "" "" "" "" "" "" "" "" "0000039165" "04210" "00052588" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "9y" "" "" "" "" "" "" "" "" "" "" "0000039166" "04210" "00052589" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "11y" "" "" "" "" "" "" "" "" "" "" "0000039167" "04210" "00052590" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "14y" "" "" "" "" "" "" "" "" "" "" "0000039168" "04210" "00052591" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "18y" "" "" "" "" "" "" "" "" "" "" "0000039169" "04210" "00052592" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "19y" "" "" "" "" "" "" "" "" "" "" "0000039170" "04210" "00052593" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "19y" "" "" "" "" "" "" "" "" "" "" "0000039171" "04210" "00052594" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "19y" "" "" "" "" "" "" "" "" "" "" "0000039172" "04210" "00052595" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "19y" "" "" "" "" "" "" "" "" "" "" "0000039173" "04210" "00052596" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "21y" "" "" "" "" "" "" "" "" "" "" "0000039174" "04210" "00052597" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "22y" "" "" "" "" "" "" "" "" "" "" "0000039175" "04210" "00052598" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "23y" "" "" "" "" "" "" "" "" "" "" "0000039176" "04210" "00052599" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "23y" "" "" "" "" "" "" "" "" "" "" "0000039177" "04210" "00052600" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "27y" "" "" "" "" "" "" "" "" "" "" "0000039178" "04210" "00052601" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "28y" "" "" "" "" "" "" "" "" "" "" "0000039179" "04210" "00052602" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "29y" "" "" "" "" "" "" "" "" "" "" "0000039180" "04210" "00052603" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "33y" "" "" "" "" "" "" "" "" "" "" "0000039181" "04210" "00052604" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "35y" "" "" "" "" "" "" "" "" "" "" "0000039182" "04210" "00052605" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "36y" "" "" "" "" "" "" "" "" "" "" "0000039183" "04210" "00052606" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "40y" "" "" "" "" "" "" "" "" "" "" "0000039184" "04210" "00052607" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "46y" "" "" "" "" "" "" "" "" "" "" "0000039185" "04210" "00052608" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; poor vision and nystagmus" "55y" "" "" "" "" "" "" "" "" "" "" "0000039186" "04210" "00052609" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "childhood blindness" "" "" "" "" "" "" "" "" "0000039187" "04210" "00052610" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "childhood blindness" "" "" "" "" "" "" "" "" "0000039188" "04214" "00052611" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa, juvenile" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039189" "04210" "00052612" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "childhood blindness" "" "" "" "" "" "" "" "" "0000039190" "04214" "00052613" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039191" "04210" "00052614" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "childhood blindness" "" "" "" "" "" "" "" "" "0000039192" "00381" "00052615" "01424" "Unknown" "" "retinal dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000039193" "04214" "00052616" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039194" "00058" "00052617" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000039195" "04214" "00052618" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039196" "00058" "00052619" "01424" "Unknown" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000039197" "04214" "00052620" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039198" "00381" "00052621" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset, severe; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time" "7y" "" "visual problems" "" "" "" "" "" "" "" "" "0000039199" "04210" "00052622" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039200" "04210" "00052623" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039201" "04210" "00052624" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039202" "04210" "00052625" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039203" "04210" "00052626" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039204" "04210" "00052627" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039205" "04210" "00052628" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039206" "04210" "00052629" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039207" "04210" "00052630" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039208" "04210" "00052631" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039209" "04210" "00052632" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039210" "04210" "00052633" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; Visual impairment" "3y" "" "" "" "" "" "" "" "" "" "" "0000039211" "04210" "00052634" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, reduced or non detectable ERG, severe retinal dystrophies" "" "" "" "" "" "" "" "" "" "" "" "0000039212" "04210" "00052635" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, reduced or non detectable ERG, severe retinal dystrophies" "" "" "" "" "" "" "" "" "" "" "" "0000039213" "04210" "00052636" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039214" "04210" "00052637" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039215" "04210" "00052638" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039216" "04210" "00052639" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039217" "04210" "00052640" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039218" "04210" "00052641" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039219" "04210" "00052642" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039220" "04210" "00052643" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039221" "04210" "00052644" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039222" "04210" "00052645" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039223" "04210" "00052646" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039224" "04210" "00052647" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039225" "04210" "00052648" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039226" "04210" "00052649" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039227" "04210" "00052650" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039228" "04210" "00052651" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039229" "04210" "00052652" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039230" "04210" "00052653" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039231" "04210" "00052654" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039232" "04210" "00052655" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039233" "04210" "00052656" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039234" "04210" "00052657" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039235" "04210" "00052658" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039236" "04210" "00052659" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039237" "04210" "00052660" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039238" "04210" "00052661" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "23y" "" "" "" "" "" "" "" "" "" "" "0000039239" "04210" "00052662" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "19y" "" "" "" "" "" "" "" "" "" "" "0000039240" "04210" "00052663" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "17y" "" "" "" "" "" "" "" "" "" "" "0000039241" "04210" "00052664" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "19y" "" "" "" "" "" "" "" "" "" "" "0000039242" "04210" "00052665" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "severe retinal dystrophy" "" "" "" "" "" "" "" "" "0000039243" "04210" "00052666" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "severe retinal dystrophy" "" "" "" "" "" "" "" "" "0000039244" "04250" "00052667" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039245" "04250" "00052668" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039246" "04250" "00052669" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039247" "04250" "00052670" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039248" "04250" "00052671" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039249" "04250" "00052672" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039250" "04250" "00052673" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039251" "04250" "00052674" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039252" "04250" "00052675" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039253" "04250" "00052676" "01424" "Familial, autosomal recessive" "" "retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039254" "04210" "00052677" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "9m" "" "no eye contact, very poor visual acuity, nystagmus, fundus is hypopigmented, night blindness" "" "" "" "" "" "" "" "" "0000039255" "04210" "00052678" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039256" "04210" "00052679" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, reduced or non detectable ERG, oculodigital sign, refractive errors, photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000039257" "04210" "00052680" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039258" "04210" "00052681" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039259" "04210" "00052682" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "11y" "" "" "" "" "" "" "" "" "" "" "0000039260" "04210" "00052683" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "12y" "" "" "" "" "" "" "" "" "" "" "0000039261" "04210" "00052684" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "18y" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "0000039262" "04210" "00052685" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "19y" "" "" "" "" "" "" "" "" "" "" "0000039263" "04210" "00052686" "01424" "Familial, autosomal dominant" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "20y" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "0000039264" "04210" "00052687" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "21y" "" "" "" "" "" "" "" "" "" "" "0000039265" "04210" "00052688" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "27y" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "0000039266" "04210" "00052689" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "28y" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "0000039267" "04210" "00052690" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "40y" "" "night blindness, reduced visual acuity, nystagmus" "" "" "" "" "" "" "" "" "0000039268" "04210" "00052691" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "41y" "" "" "" "" "" "" "" "" "" "" "0000039269" "04210" "00052692" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "53y" "" "" "" "" "" "" "" "" "" "" "0000039270" "04210" "00052693" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "55y" "" "" "" "" "" "" "" "" "" "" "0000039271" "04210" "00052694" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039272" "04210" "00052695" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039273" "04210" "00052696" "01424" "Familial, autosomal dominant" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039274" "04210" "00052697" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039275" "04210" "00052698" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039276" "04210" "00052699" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039277" "04210" "00052700" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039278" "04210" "00052701" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039279" "04210" "00052702" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "35y" "" "" "" "" "" "" "" "" "" "" "0000039280" "04210" "00052703" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophies, reduced or non-detectable ERG" "21y" "" "" "" "" "" "" "" "" "" "" "0000039281" "04210" "00052704" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophies, reduced or non-detectable ERG" "23y" "" "" "" "" "" "" "" "" "" "" "0000039282" "00381" "00052705" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039283" "00381" "00052706" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039284" "00381" "00052707" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039285" "00381" "00052708" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039286" "00381" "00052709" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039287" "00381" "00052710" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039288" "00381" "00052711" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039289" "00381" "00052712" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039290" "00381" "00052713" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039291" "00381" "00052714" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039292" "00381" "00052715" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039293" "00381" "00052716" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039294" "00381" "00052717" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039295" "00381" "00052718" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039296" "04210" "00052719" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039297" "04210" "00052720" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039298" "04210" "00052721" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "visual problems" "" "" "" "" "" "" "" "" "0000039299" "04210" "00052722" "01424" "Unknown" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039300" "04210" "00052723" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039301" "04210" "00052724" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039302" "04210" "00052725" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039303" "04210" "00052726" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039304" "04210" "00052727" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039305" "04210" "00052728" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039306" "04210" "00052729" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, nystagmus, cone-rod dystrophies, reduced or non-detectable ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039307" "04250" "00052730" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "2y" "" "night blindness" "" "" "" "" "" "" "" "" "0000039308" "04250" "00052731" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "4m" "" "nystagmus fixation on light" "" "" "" "" "" "" "" "" "0000039309" "04250" "00052732" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "3y" "" "night blindness" "" "" "" "" "" "" "" "" "0000039310" "04250" "00052733" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "7m" "" "nystagmus fixation on light" "" "" "" "" "" "" "" "" "0000039311" "04250" "00052734" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "" "" "night blindness, toddler, nystagmus" "" "" "" "" "" "" "" "" "0000039312" "04250" "00052735" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "5y" "" "night blindness" "" "" "" "" "" "" "" "" "0000039313" "04250" "00052736" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "0d" "" "night blindness" "" "" "" "" "" "" "" "" "0000039314" "04250" "00052737" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "2y" "" "nystagmus, night blindness" "" "" "" "" "" "" "" "" "0000039315" "04250" "00052738" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "3y" "" "nystagmus, night blindness, poor visual acuity" "" "" "" "" "" "" "" "" "0000039316" "04250" "00052739" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "" "" "infancy onset nystagmus, night blindness, poor visual acuity" "" "" "" "" "" "" "" "" "0000039317" "04250" "00052740" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "" "" "infancy onset nystagmus, night blindness, poor visual acuity" "" "" "" "" "" "" "" "" "0000039318" "04250" "00052741" "01424" "Unknown" "" "retinal degeneration" "3y" "" "nystagmus" "" "" "" "" "" "" "" "" "0000039319" "04250" "00052742" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "3y" "" "nystagmus, night blindness, poor vision" "" "" "" "" "" "" "" "" "0000039320" "04250" "00052743" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "6m" "" "nystagmus, night blindness, poor vision" "" "" "" "" "" "" "" "" "0000039321" "04250" "00052744" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "0d" "" "nystagmus, night blindness, poor vision" "" "" "" "" "" "" "" "" "0000039322" "04250" "00052745" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "" "" "3y-7y nystagmus, night blindness" "" "" "" "" "" "" "" "" "0000039323" "04250" "00052746" "01424" "Familial, autosomal recessive" "" "retinal degeneration" ">5y" "" "nystagmus" "" "" "" "" "" "" "" "" "0000039324" "04250" "00052747" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "5y" "" "nystagmus, night blindness" "" "" "" "" "" "" "" "" "0000039325" "04250" "00052748" "01424" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000039326" "04250" "00052749" "01424" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000039327" "04250" "00052750" "01424" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000039328" "04250" "00052751" "01424" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000039329" "04250" "00052752" "01424" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000039330" "04250" "00052753" "01424" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000039331" "04250" "00052754" "01424" "Familial, autosomal recessive" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000039332" "00058" "00052755" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy; pale optic disc, bull\'s eye maculopathy, thin retinal arteries, and increased granularity of the RPE in the periphery" "5y" "" "" "" "" "" "" "" "" "" "" "0000039333" "00058" "00052756" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy; slightly increased granularity in the macula, together with decreased muscular reflex, minimal thinning of the retinal arteries and increased granularity of the RPE in the periphery, together with a very blond fundus in the circumpapillary area" "6y" "" "fine oscillatory nystagmus was described. There was a moderate hypermetropic in both eyes. Some form of ocular albinism was suspected" "" "" "" "" "" "" "" "" "0000039334" "00058" "00052757" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy; slightly pale optic disc, slightly increased granularity in the macula, and normal retinal vessels." "7y" "" "night blindness was noted by parents . no photophobia, pale optic disc" "" "" "" "" "" "" "" "" "0000039335" "00058" "00052758" "01424" "Familial, autosomal recessive" "" "cone-rod dystrophy; clearly increased granularity of the RPE in the periphery, normal retinal vessels" "3y" "" "visual Impairment in darkened environment" "" "" "" "" "" "" "" "" "0000039336" "04210" "00052759" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039337" "04210" "00052760" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039338" "04210" "00052761" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039339" "04210" "00052762" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039340" "04210" "00052763" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039341" "04210" "00052764" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039342" "04210" "00052765" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039343" "04210" "00052766" "01424" "Unknown" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039344" "04210" "00052767" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039345" "04210" "00052768" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039346" "04210" "00052769" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039347" "04210" "00052770" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039348" "04210" "00052771" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "1y" "" "counting fingers, wandering eye movement, absence of foveal light reflex, abnormal retinal pigment epithelium" "" "" "" "" "" "" "" "" "0000039349" "04210" "00052772" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039351" "04210" "00052774" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039352" "04210" "00052775" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039353" "04210" "00052776" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039354" "04210" "00052777" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039355" "04210" "00052778" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039356" "04210" "00052779" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039357" "04210" "00052780" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039358" "04210" "00052781" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039359" "04210" "00052782" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039360" "04210" "00052783" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, cone-rod dystrophy, reduced or non-detectable ERG" "" "" "impaired vision" "" "" "" "" "" "" "" "" "0000039361" "00198" "00052784" "01424" "Unknown" "" "macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus;" "" "" "" "" "" "" "" "" "" "" "" "0000039362" "00198" "00052785" "01424" "Unknown" "" "macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus;" "" "" "" "" "" "" "" "" "" "" "" "0000039363" "04214" "00052786" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039364" "04214" "00052787" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039365" "04214" "00052788" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039366" "04214" "00052789" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039367" "04214" "00052790" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039368" "04210" "00052791" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039369" "04210" "00052792" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039370" "04210" "00052793" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039371" "04210" "00052794" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039372" "04210" "00052795" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039373" "04210" "00052796" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039374" "04210" "00052797" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039375" "04210" "00052798" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039376" "04210" "00052799" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039377" "04214" "00052800" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; degeneration of the photoreceptors, partial or complete blindness, decreased visual acuity and progressive loss of visual fields" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039378" "04210" "00052801" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039379" "04210" "00052802" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039380" "04210" "00052803" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039381" "04214" "00052804" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; night blindness since childhood, progressive disease, triad, waxy pallor of optic discs, attenuated retinal vessels, bone-spicule pigmentation in midperipheral retina along with bilateral, extended dystrophy of the macular area, undetectable ERG" "1y" "" "night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039382" "00381" "00052805" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039383" "00381" "00052806" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039384" "00381" "00052807" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039385" "00381" "00052808" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039386" "00381" "00052809" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039387" "00381" "00052810" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039388" "00381" "00052811" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039389" "00381" "00052812" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039390" "00381" "00052813" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039391" "00381" "00052814" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039392" "00381" "00052815" "01424" "Familial, autosomal recessive" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039393" "00381" "00052816" "01424" "Unknown" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039394" "00381" "00052817" "01424" "Unknown" "" "retinal dystrophy, childhood-onset, severe" "" "" "" "" "" "" "" "" "" "" "" "0000039395" "04210" "00052818" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; numerous yellowish spots in the outer layer of the retina, nystagmus, severe rod-cone dystrophy, night blindness, non-recordable ERG" "" "" "nystagmus, night blindness" "" "" "" "" "" "" "" "" "0000039396" "04210" "00052819" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; numerous yellowish spots in the outer layer of the retina, nystagmus, severe rod-cone dystrophy, night blindness, non-recordable ERG" "" "" "nystagmus, night blindness" "" "" "" "" "" "" "" "" "0000039397" "04210" "00052820" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; severe visual impairment, nonrecordable ERG, normal anterior segment, abnormal pigmentation in all four quadrants of the fundus with mild temporal pallor of the discs in both eyes" "" "" "poor vision" "" "" "" "" "" "" "" "" "0000039398" "04210" "00052821" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039399" "04210" "00052822" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039400" "04210" "00052823" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039401" "04210" "00052824" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039402" "04210" "00052825" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039403" "04210" "00052826" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039404" "04210" "00052827" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039405" "04210" "00052828" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; night blindness, sluggish pupils, roving nystagmus, pale optic discs, dull macular reflexes with diffuse yellowish stippling, significant arteriolar attenuation, considerable peripheral pigmentary changes" "" "" "" "" "" "" "" "" "" "" "" "0000039406" "04210" "00052829" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; night blindness, sluggish pupils, roving nystagmus, pale optic discs, dull macular reflexes with diffuse yellowish stippling, significant arteriolar attenuation, considerable peripheral pigmentary changes" "" "" "" "" "" "" "" "" "" "" "" "0000039407" "04214" "00052830" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039408" "04214" "00052831" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; bilateral visual loss, initial hemeralopy, restriction of visual field, gradual increased bone spicule pigmentation, decrease of visual acuity, attenuation of retinal vessels, reduced or undetectable ERG" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039409" "04210" "00052832" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039412" "04214" "00052835" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; night blindness, retinal pigmentation, vessel attenuation, severe loss of peripheral visual field, abnormal ERG" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039413" "04214" "00052836" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa; night blindness, retinal pigmentation, vessel attenuation, severe loss of peripheral visual field, abnormal ERG" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039414" "04214" "00052837" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039415" "04214" "00052838" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039416" "04210" "00052839" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis; congenital blindness, congenital nystagmus, lack of detectable signals on an ERG" "" "" "" "" "" "" "" "" "" "" "" "0000039417" "04210" "00052840" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis" "5y" "" "" "" "" "" "" "" "" "" "" "0000039418" "04214" "00052841" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039419" "04214" "00052842" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039420" "04214" "00052843" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039421" "04210" "00052844" "01424" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039422" "04214" "00052845" "01424" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039423" "04210" "00052846" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039424" "04210" "00052847" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039425" "04210" "00052848" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000039428" "04210" "00052851" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039429" "04210" "00052852" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039430" "04210" "00052853" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039431" "04210" "00052854" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039432" "04210" "00052855" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039433" "04210" "00052856" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039434" "04210" "00052857" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039435" "04210" "00052858" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039436" "04210" "00052859" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039437" "04210" "00052860" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039438" "04210" "00052861" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039439" "04210" "00052862" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039440" "04210" "00052863" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039441" "04210" "00052864" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039442" "04210" "00052865" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039443" "04210" "00052866" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039444" "04210" "00052867" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039445" "04210" "00052868" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039446" "04210" "00052869" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039447" "04210" "00052870" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039448" "04210" "00052871" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039449" "04210" "00052872" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039450" "04210" "00052873" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039451" "04210" "00052874" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039452" "04210" "00052875" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039453" "04210" "00052876" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039454" "04210" "00052877" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039455" "04210" "00052878" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039456" "04210" "00052879" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039457" "04210" "00052880" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039458" "04210" "00052881" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039459" "04210" "00052882" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039460" "04210" "00052883" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039461" "04210" "00052884" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039462" "04210" "00052885" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039463" "04210" "00052886" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039464" "04210" "00052887" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039465" "04210" "00052888" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039466" "04210" "00052889" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039467" "04210" "00052890" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039468" "04210" "00052891" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039469" "04210" "00052892" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039470" "04210" "00052893" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039471" "04210" "00052894" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039472" "04210" "00052895" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039473" "04210" "00052896" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039474" "04210" "00052897" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039475" "04210" "00052898" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039476" "04210" "00052899" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039477" "04210" "00052900" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039478" "04210" "00052901" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039479" "04210" "00052902" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039480" "04210" "00052903" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039481" "04210" "00052904" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039482" "04210" "00052905" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039483" "04210" "00052906" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039484" "04210" "00052907" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039485" "04210" "00052908" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039486" "04210" "00052909" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039487" "04210" "00052910" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039488" "04210" "00052911" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039489" "04210" "00052912" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039490" "04210" "00052913" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039491" "04210" "00052914" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039492" "04210" "00052915" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039493" "04210" "00052916" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039494" "04210" "00052917" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039495" "04210" "00052918" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039496" "04210" "00052919" "01424" "Isolated (sporadic)" "" "Leber congenital amaurosis; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus, severe rod-cone dystrophy, night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000039497" "04210" "00052920" "01424" "Unknown" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039498" "04210" "00052921" "01424" "Unknown" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039499" "04210" "00052922" "01424" "Unknown" "" "Leber congenital amaurosis" "0d" "" "" "" "" "" "" "" "" "" "" "0000039500" "04210" "00052923" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039501" "04210" "00052924" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039502" "04210" "00052925" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039503" "04210" "00052926" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039504" "04210" "00052927" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039505" "04210" "00052928" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039506" "04210" "00052929" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039507" "04210" "00052930" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039508" "04210" "00052931" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039509" "04210" "00052932" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039510" "04210" "00052933" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039511" "04210" "00052934" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039512" "04210" "00052935" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039513" "04210" "00052936" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039514" "04210" "00052937" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039515" "04210" "00052938" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039516" "04210" "00052939" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039517" "04210" "00052940" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039518" "04210" "00052941" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039519" "04210" "00052942" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039520" "04210" "00052943" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039521" "04210" "00052944" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039522" "04210" "00052945" "01424" "Unknown" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "" "0000039523" "04214" "00052946" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039524" "04214" "00052947" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039525" "04214" "00052948" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039526" "04214" "00052949" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000039527" "00000" "00052950" "01424" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000074216" "04211" "00095927" "01769" "Familial, autosomal recessive" "" "Progressive RD" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000078318" "00381" "00100078" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078331" "00381" "00100092" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078347" "00381" "00100110" "01769" "Familial, autosomal recessive" "" "early onset RD" "" "" "" "" "" "" "" "" "" "" "" "0000078348" "00381" "00100111" "01769" "Familial, autosomal recessive" "" "early onset RD" "" "" "" "" "" "" "" "" "" "" "" "0000078354" "00381" "00100117" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116693" "04214" "00143915" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000128044" "04210" "00155544" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "LCA" "" "0000128045" "04214" "00155545" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000128046" "04210" "00155546" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "LCA" "" "0000128047" "04210" "00155547" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "LCA" "" "0000155482" "04210" "00207692" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157443" "04214" "00208834" "02959" "Familial, autosomal recessive" "12y" "OD 20/50, OS 20/40, nyctalopia, nystagmus, diminished ERG" "00y24m" "" "" "" "" "" "" "" "Early onset retinal dystrophy" "Early onset retinal dystrophy" "" "0000157444" "04214" "00208835" "02959" "Familial, autosomal recessive" "16y" "OD 20/20-1, OS 20/25, nystagmus, nyctalopia, diminished potentials, cone function present on ERG" "00y24m" "00y24m" "" "" "" "" "" "" "Early onset retinal dystrophy" "Early onset retinal dystrophy" "" "0000157445" "01647" "00208836" "02959" "Familial, autosomal recessive" "05y" "20/400 OD, 20/1200 OS, nyctalopia, no nystagmus, flat ERG" "00y18m" "" "" "" "" "" "" "" "" "" "" "0000157447" "01647" "00208833" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157460" "01647" "00208852" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157461" "01647" "00208832" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157462" "01647" "00208853" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157463" "01647" "00208854" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157464" "01647" "00208855" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, ERG flat" "" "" "" "" "" "" "" "" "" "" "" "0000157465" "01647" "00208856" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157466" "01647" "00208857" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157467" "01647" "00208858" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157468" "01647" "00208859" "02959" "Familial, autosomal recessive" "" "Poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157469" "01647" "00208860" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157470" "01647" "00208861" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157471" "01647" "00208862" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157472" "01647" "00208863" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157473" "01647" "00208864" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157474" "01647" "00208865" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157475" "01647" "00208866" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157476" "01647" "00208867" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157477" "01647" "00208868" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157478" "01647" "00208869" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157479" "01647" "00208870" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157480" "01647" "00208871" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157481" "01647" "00208872" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000157482" "01647" "00208873" "02959" "Familial, autosomal recessive" "" "poor vision, onset as infant, flat ERG" "" "" "" "" "" "" "" "" "" "" "" "0000233983" "04214" "00308555" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233984" "04214" "00308556" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234063" "04214" "00308635" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234700" "04214" "00309380" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234701" "04214" "00309381" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000234702" "04214" "00309382" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000234703" "04214" "00309383" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243934" "04214" "00325447" "00006" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243940" "04214" "00325453" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243956" "04214" "00325469" "00006" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243963" "04214" "00325476" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243971" "04214" "00325484" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243989" "04214" "00325502" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000245164" "04214" "00326698" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" "" "0000245687" "02223" "00327393" "03980" "Familial, autosomal dominant" "" "Fundus findings/History: Choroideremia like fundus in both eyes, mild pallor optic nerve head\r\n\r\nOcular Coherence Tomography: Outer retinal layers loss, presence of outer retinal tubulations\r\n\r\nElectroretinogram (ERG): Rod-cone dysdrophy in ffERG" "" "" "" "REP1 Western blotting from Lymphoblast isolated protein showed normal expression" "" "" "" "" "RPE65 mediated Choroidal Atrophy" "Chroideremia" "" "0000246548" "04214" "00328321" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247023" "04210" "00328810" "00006" "Familial, autosomal recessive" "02y" "see paper; ..., decreased visual acuity, night blindness, ERG-severely reduced" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247040" "04214" "00328836" "00000" "Familial, autosomal recessive" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247041" "04214" "00328837" "00000" "Familial, autosomal recessive" "3y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247042" "04214" "00328838" "00000" "Familial, autosomal recessive" "26y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247043" "04214" "00328839" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247044" "04214" "00328840" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247045" "04214" "00328841" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247046" "04214" "00328842" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247047" "04214" "00328843" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247048" "04214" "00328844" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247049" "04214" "00328845" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247050" "04214" "00328846" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247051" "04214" "00328847" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247052" "04214" "00328848" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247053" "04214" "00328849" "00000" "Familial, autosomal dominant" "67y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247054" "04214" "00328850" "00000" "Familial, autosomal recessive" "30y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247055" "04214" "00328851" "00000" "Familial, autosomal recessive" "28y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247056" "04214" "00328852" "00000" "Familial, autosomal recessive" "21y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247057" "04214" "00328853" "00000" "Familial, autosomal recessive" "50y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247058" "04214" "00328854" "00000" "Familial, autosomal recessive" "47y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247059" "04214" "00328855" "00000" "Familial, autosomal recessive" "27y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247060" "04214" "00328856" "00000" "Familial, autosomal recessive" "36y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247061" "04214" "00328857" "00000" "Familial, autosomal recessive" "27y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247062" "04214" "00328858" "00000" "Familial, autosomal recessive" "8y" "see paper; ..., poor vision, nystagmus, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247063" "04214" "00328859" "00000" "Familial, autosomal recessive" "38y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247064" "04214" "00328860" "00000" "Familial, autosomal recessive" "22y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247065" "04214" "00328861" "00000" "Familial, autosomal recessive" "7y" "see paper; ..., poor vision, nystagmus, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247066" "04214" "00328862" "00000" "Familial, autosomal recessive" "9y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247067" "04214" "00328863" "00000" "Familial, autosomal recessive" "41y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247068" "04214" "00328864" "00000" "Familial, autosomal recessive" "23y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247069" "04214" "00328865" "00000" "Familial, autosomal recessive" "17y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247070" "04214" "00328866" "00000" "Familial, autosomal recessive" "30y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247071" "04214" "00328867" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "0000247072" "04214" "00328868" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "0000247073" "04214" "00328869" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "0000247074" "04214" "00328870" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "0000247075" "04214" "00328871" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "0000247076" "04214" "00328872" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "0000247077" "04214" "00328873" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "0000247078" "04214" "00328874" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247079" "04214" "00328875" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247080" "04214" "00328876" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247081" "04214" "00328877" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247082" "04214" "00328878" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247083" "04214" "00328879" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247084" "04214" "00328880" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "early-onset retinal degeneration" "" "0000247085" "04214" "00328881" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "early-onset retinal degeneration" "" "0000247086" "04214" "00328882" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "early-onset retinal degeneration" "" "0000247087" "04214" "00328883" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "early-onset retinal degeneration" "" "0000247088" "04214" "00328884" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "early-onset retinal degeneration" "" "0000247089" "04214" "00328885" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high hyperopia" "" "0000247091" "04214" "00328887" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247092" "04214" "00328888" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247093" "04214" "00328889" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247094" "04214" "00328890" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247095" "04214" "00328891" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247096" "04214" "00328892" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247097" "04214" "00328893" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247098" "04214" "00328894" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247099" "04214" "00328895" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247100" "04214" "00328896" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247101" "04214" "00328897" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247102" "04214" "00328898" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247103" "04214" "00328899" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247104" "04214" "00328900" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247105" "04214" "00328901" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247106" "04214" "00328902" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247107" "04214" "00328903" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247108" "04214" "00328904" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247109" "04214" "00328905" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247110" "04214" "00328906" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247111" "04214" "00328907" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247112" "04214" "00328908" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247113" "04214" "00328909" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247114" "04214" "00328910" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247115" "04214" "00328911" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247116" "04214" "00328912" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247117" "04214" "00328913" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247118" "04214" "00328914" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247119" "04214" "00328915" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247120" "04214" "00328916" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247121" "04214" "00328917" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247122" "04214" "00328918" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247123" "04214" "00328919" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247124" "04214" "00328920" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247125" "04214" "00328921" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247126" "04214" "00328922" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247127" "04214" "00328923" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247128" "04214" "00328924" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247129" "04214" "00328925" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247130" "04214" "00328926" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247131" "04214" "00328927" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247132" "04214" "00328928" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247133" "04214" "00328929" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247134" "04214" "00328930" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247135" "04214" "00328931" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247136" "04214" "00328932" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247137" "04214" "00328933" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247138" "04214" "00328934" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247139" "04214" "00328935" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247140" "04214" "00328936" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247141" "04214" "00328937" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247142" "04214" "00328938" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247143" "04214" "00328939" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247144" "04214" "00328940" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247145" "04214" "00328941" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247146" "04214" "00328942" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247147" "04214" "00328943" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247148" "04214" "00328944" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247149" "04214" "00328945" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247150" "04214" "00328946" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247151" "04214" "00328947" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247152" "04214" "00328948" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247153" "04214" "00328949" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247154" "04214" "00328950" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247155" "04214" "00328951" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247156" "04214" "00328952" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247157" "04214" "00328953" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247158" "04214" "00328954" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247159" "04214" "00328955" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247160" "04214" "00328956" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247161" "04214" "00328957" "00000" "Familial, autosomal recessive" "" "see paper; ..., unusual, late presentation" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247162" "04214" "00328958" "00000" "Familial, autosomal recessive" "" "see paper; ..., unusual, late presentation" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247163" "04214" "00328959" "00000" "Familial, autosomal recessive" "" "see paper; ..., unusual, late presentation" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247164" "04214" "00328960" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247165" "04214" "00328961" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000247166" "04214" "00328962" "00000" "Unknown" "57y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247167" "04214" "00328963" "00000" "Familial, autosomal recessive" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247168" "04214" "00328964" "00000" "Familial, autosomal recessive" "37y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247169" "04214" "00328965" "00000" "Familial, autosomal recessive" "38y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247170" "04214" "00328966" "00000" "Familial, autosomal recessive" "43y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247171" "04214" "00328967" "00000" "Familial, autosomal recessive" "26y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247172" "04214" "00328968" "00000" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247173" "04214" "00328969" "00000" "Familial, autosomal recessive" "18y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247174" "04214" "00328970" "00000" "Familial, autosomal recessive" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247175" "04214" "00328971" "00000" "Familial, autosomal recessive" "7y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247176" "04214" "00328972" "00000" "Familial, autosomal recessive" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247177" "04214" "00328973" "00000" "Familial, autosomal recessive" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247178" "04214" "00328974" "00000" "Familial, autosomal recessive" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247179" "04214" "00328975" "00000" "Familial, autosomal recessive" "7y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247180" "04214" "00328976" "00000" "Familial, autosomal recessive" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247181" "04214" "00328977" "00000" "Familial, autosomal recessive" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247182" "04214" "00328978" "00000" "Familial, autosomal recessive" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247183" "04214" "00328979" "00000" "Familial, autosomal recessive" "41y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247184" "04214" "00328980" "00000" "Familial, autosomal recessive" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247185" "04214" "00328981" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247186" "04214" "00328982" "00000" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247187" "04214" "00328983" "00000" "Familial, autosomal recessive" "48y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247188" "04214" "00328984" "00000" "Familial, autosomal recessive" "29y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247189" "04214" "00328985" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247190" "04214" "00328986" "00000" "Familial, autosomal recessive" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247191" "04214" "00328987" "00000" "Familial, autosomal recessive" "5y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247192" "04214" "00328988" "00000" "Familial, autosomal recessive" "0y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247193" "04214" "00328989" "00000" "Familial, autosomal recessive" "29y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247194" "04214" "00328990" "00000" "Familial, autosomal recessive" "30y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247195" "04214" "00328991" "00000" "Familial, autosomal recessive" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247196" "04214" "00328992" "00000" "Familial, autosomal recessive" "31y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247197" "04214" "00328993" "00000" "Familial, autosomal recessive" "14y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247198" "04214" "00328994" "00000" "Familial, autosomal recessive" "38y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247199" "04214" "00328995" "00000" "Familial, autosomal recessive" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247200" "04214" "00328996" "00000" "Familial, autosomal recessive" "18y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247201" "04214" "00328997" "00000" "Familial, autosomal recessive" "7y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247202" "04214" "00328998" "00000" "Familial, autosomal recessive" "19y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247203" "04214" "00328999" "00000" "Familial, autosomal recessive" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247204" "04214" "00329000" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247205" "04214" "00329001" "00000" "Familial, autosomal recessive" "30y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247206" "04214" "00329002" "00000" "Familial, autosomal recessive" "32y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247207" "04214" "00329003" "00000" "Familial, autosomal recessive" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247208" "04214" "00329004" "00000" "Familial, autosomal recessive" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247209" "04214" "00329005" "00000" "Familial, autosomal recessive" "16y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247210" "04214" "00329006" "00000" "Familial, autosomal recessive" "9y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247211" "04214" "00329007" "00000" "Familial, autosomal recessive" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247212" "04214" "00329008" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "0000249483" "04214" "00331289" "00000" "Familial, autosomal recessive" "42y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250401" "04214" "00332214" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250402" "04214" "00332215" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250447" "04214" "00332260" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000250448" "04214" "00332261" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000250449" "04214" "00332262" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000250545" "04214" "00332359" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250546" "04214" "00332360" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000251534" "04214" "00333348" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000251598" "04214" "00333411" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP/LCA" "" "0000251654" "04214" "00333469" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000251655" "04214" "00333470" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000251662" "04214" "00333477" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000252147" "04214" "00333962" "00000" "Familial, autosomal recessive" "16y" "clinical category IA2b" "" "" "" "" "" "" "" "" "" "severe early childhood onset retinal dystrophy" "" "0000252148" "04214" "00333963" "00000" "Familial, autosomal recessive" "24y" "clinical category IA2b" "" "" "" "" "" "" "" "" "" "severe early childhood onset retinal dystrophy" "" "0000252166" "04214" "00333981" "00000" "Familial, autosomal recessive" "9y" "clinical category IA2c" "" "" "" "" "" "" "" "" "" "early childhood onset retinal dystrophy" "" "0000252554" "04214" "00334465" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252555" "04214" "00334466" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "early-onset retinal degeneration" "" "0000252556" "04214" "00334467" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252673" "04214" "00334887" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252674" "04214" "00334888" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252675" "04214" "00334889" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252676" "04214" "00334890" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252677" "04214" "00334891" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252871" "00198" "00335156" "00000" "Familial, autosomal recessive" "" "3y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252872" "00198" "00335157" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252873" "00198" "00335158" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000252874" "00198" "00335159" "00000" "Unknown" "" "0y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000252958" "04214" "00335243" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253344" "04214" "00335398" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253359" "04214" "00335413" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253398" "04214" "00335453" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000253400" "04214" "00335455" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000253440" "04214" "00335495" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253441" "04214" "00335496" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253442" "04214" "00335497" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000253906" "04214" "00335991" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254181" "04214" "00358921" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000254350" "04214" "00359053" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254367" "04214" "00359070" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254373" "04214" "00359076" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254384" "04214" "00359087" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254474" "04214" "00359177" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000258809" "04214" "00363448" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258925" "04214" "00363575" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000258965" "04214" "00363615" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000258980" "04214" "00363630" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000258981" "04214" "00363631" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinal dystrophy, unspecfied" "" "0000259017" "04214" "00363667" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259026" "04214" "00363676" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259103" "04214" "00363753" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259227" "04214" "00363888" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259228" "04214" "00363889" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267396" "04214" "00372067" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267402" "04214" "00372073" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267723" "04214" "00372408" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267761" "04214" "00372446" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267802" "04214" "00372487" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267803" "04214" "00372488" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267805" "04214" "00372490" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267813" "04214" "00372498" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267927" "04214" "00372648" "00000" "Familial, autosomal dominant" "65y" "see paper; ..." "64y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268640" "04214" "00373364" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268686" "04214" "00373410" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268687" "04214" "00373411" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269104" "04214" "00373895" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000270108" "04214" "00374898" "00000" "Isolated (sporadic)" "20y" "best corrected visual acuity 0.12/0.12" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270165" "04214" "00374955" "00000" "Isolated (sporadic)" "7y" "best corrected visual acuity 0.4/0.5" "5y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000270502" "04214" "00375288" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270556" "04214" "00375342" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271993" "04214" "00376782" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272036" "04214" "00376826" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272419" "04214" "00377261" "00000" "Familial, autosomal recessive" "67y" "see paper" "0y" "1y6m" "" "" "" "" "" "" "retinitis pigmentosa, type 20 (RP20)" "retinal disease" "" "0000272427" "04214" "00377269" "00000" "Familial, autosomal recessive" "28y" "see paper" "0y" "15y" "" "" "" "" "" "" "Leber congenital amaurosis, type 2 (LCA-2)" "retinal disease" "" "0000272428" "04214" "00377270" "00000" "Familial, autosomal recessive" "" "see paper" "0y" "17y" "" "" "" "" "" "" "Leber congenital amaurosis, type 2 (LCA-2)" "retinal disease" "" "0000272971" "04214" "00377825" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Juvenile Retinitis pigmentaria" "" "0000273041" "04214" "00377895" "00000" "Familial" "6y" "" "<1y" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000273050" "04214" "00377904" "00000" "Isolated (sporadic)" "11m" "nystagmus, poor vision" "<1y" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000273052" "04214" "00377906" "00000" "Isolated (sporadic)" "3y2m" "poor vision; photophobia; NYS" "<1y" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000273056" "04214" "00377910" "00000" "Isolated (sporadic)" "1y6m" "poor vision; roving nystagmus" "<1y" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000273175" "04210" "00378029" "03508" "Familial, autosomal recessive" "" "HP:0000662, HP:0001129, HP:0000007, HP:0000639, HP:0001141, HP:0001483" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000273399" "04214" "00379526" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "0000273614" "04210" "00379760" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000639,\tHP:0000510,\tHP:0007401,\tHP:0001129" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000273734" "04214" "00379880" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274167" "04214" "00380316" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" "0000274168" "04214" "00380317" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274876" "04214" "00381025" "00000" "Isolated (sporadic)" "<1y" "poor vision, roving nystagmus" "1y2m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274886" "04214" "00381035" "00000" "Isolated (sporadic)" "<1y" "poor vision, nystagmus" "2y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274921" "04214" "00381070" "00000" "Familial, autosomal recessive" "41y" "+0.75DS+1.75DCX90; +1.50DS+1.00DCX90; photophobia for 2 years" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000274994" "04214" "00381143" "00000" "Unknown" "" "" "3y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274995" "04214" "00381144" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274998" "04214" "00381147" "00000" "Unknown" "" "" "4y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275000" "04214" "00381149" "00000" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275001" "04214" "00381150" "00000" "Unknown" "" "" "4y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275047" "04214" "00381196" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275447" "04214" "00381605" "00000" "Isolated (sporadic)" "" "" "38y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" "" "0000275457" "04214" "00381615" "00000" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275491" "04214" "00381649" "00000" "Familial, autosomal recessive" "" "" "28y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275542" "04214" "00381700" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275785" "04214" "00381943" "00000" "Familial, autosomal recessive" "36y" "BCVA OD-OS:1/50-1/35; nystagmus; ; cataract" "3y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000275786" "04214" "00381944" "00000" "Familial, autosomal recessive" "48y" "BCVA OD-OS:hand movement-1/50; nystagmus; strabismus" "7y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000275978" "01647" "00382136" "00000" "Familial, autosomal recessive" "" "retinal dystrophy; MIM, 204100 or 613794" "" "" "" "" "" "" "" "" "" "MIM, 204100 or 613794" "" "0000275979" "03440" "00382137" "00000" "Familial, autosomal recessive" "" "retinal dystrophy; MIM, 613801 or 163500" "" "" "" "" "" "" "" "" "" "MIM, 613801 or 163500" "" "0000276267" "04214" "00382418" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276268" "04214" "00382419" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276448" "04214" "00382599" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276449" "04214" "00382600" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277239" "04214" "00383454" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000277240" "04214" "00383455" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000277560" "04214" "00383775" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277912" "04214" "00384127" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277983" "04214" "00384198" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277985" "04214" "00384200" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277986" "04214" "00384201" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277994" "04214" "00384209" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278196" "04214" "00384411" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278237" "04214" "00384452" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278258" "04214" "00384473" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278285" "04214" "00384500" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Early onset retinitis pigmentosa" "" "0000278532" "04214" "00384749" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278560" "04214" "00384777" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278561" "04214" "00384778" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278787" "04214" "00385003" "00000" "Isolated (sporadic)" "25y" "nystagmus, best corrected visual acuity right/left eye: 0.07/0.07" "" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278788" "04214" "00385004" "00000" "Isolated (sporadic)" "5y" "nyctalopia, no nystagmus, best corrected visual acuity right/left eye: NA" "4y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278789" "04214" "00385005" "00000" "Isolated (sporadic)" "37y" "photophobia, no nystagmus, best corrected visual acuity right/left eye: 0.1/0.1" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278790" "04214" "00385006" "00000" "Isolated (sporadic)" "5y" "nyctalopia, no nystagmus, no oculodigital sign, ERG severely declined, best corrected visual acuity right/left eye: 0.6/0.4" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278794" "04214" "00385010" "00000" "Isolated (sporadic)" "29y" "nyctalopia, no nystagmus, best corrected visual acuity right/left eye: 0.12/0.1" "3y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278805" "04214" "00385021" "00000" "Isolated (sporadic)" "2y" "nyctalopia, no nystagmus, ERG extinguished, best corrected visual acuity right/left eye: 0.04/0.04" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278807" "04214" "00385023" "00000" "Isolated (sporadic)" "4y" "nyctalopia, no nystagmus, best corrected visual acuity right/left eye: 0.3/0.3" "2y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278816" "04214" "00385032" "00000" "Isolated (sporadic)" "27y" "nyctalopia, nystagmus, ERG extinguished, best corrected visual acuity right/left eye: 0.05/0.05" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278827" "04214" "00385043" "00000" "Isolated (sporadic)" "2y" "nyctalopia, no nystagmus, ERG extinguished, best corrected visual acuity right/left eye: NA" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278829" "04214" "00385045" "00000" "Isolated (sporadic)" "16y" "nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.1/0.1" "4y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278839" "04214" "00385055" "00000" "Isolated (sporadic)" "12y" "nyctalopia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.05/0.05" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278858" "04214" "00385074" "00000" "Isolated (sporadic)" "5y" "nyctalopia/photophobia, no nystagmus, no oculodigital sign, best corrected visual acuity right/left eye: 0.5/0.5" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278869" "04214" "00385085" "00000" "Isolated (sporadic)" "8y" "nyctalopia, no nystagmus, no oculodigital sign, ERG severely declined, best corrected visual acuity right/left eye: 0.4/0.3" "3y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278876" "04214" "00385092" "00000" "Isolated (sporadic)" "26y" "nyctalopia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.03/0.01" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000279531" "04214" "00385718" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279542" "04214" "00385729" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279547" "04214" "00385734" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000280062" "04214" "00386259" "00000" "Familial, autosomal recessive" "31y" "" "" "6y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000280090" "04214" "00386287" "00000" "Familial, autosomal dominant" "54y" "" "" "33y" "" "" "" "" "" "" "retinitis pigmentosa" "autosomal recessive retinitis pigmentosa" "" "0000280394" "04214" "00386594" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280525" "04214" "00386725" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281767" "04214" "00388174" "00000" "Unknown" "26y1m" "Nystagmus: 1-2Hz pendular , best corrected visual acuity right eye/left eye: LP+/FC20, fundus: Granular macular, ERG: Extinguished" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000282028" "04214" "00388476" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000282351" "04214" "00388810" "00000" "Familial, autosomal recessive" "38y" "age at genetic diagnosis mentioned" "" "29y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282359" "04214" "00388818" "00000" "Isolated (sporadic)" "58y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000282557" "04214" "00389016" "00000" "Familial, autosomal recessive" "21y" "age at genetic diagnosis mentioned" "" "16y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282558" "04214" "00389017" "00000" "Familial, autosomal recessive" "24y" "age at genetic diagnosis mentioned" "" "18y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282559" "04214" "00389018" "00000" "Familial, autosomal recessive" "16y" "age at genetic diagnosis mentioned" "" "10y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282597" "04214" "00389056" "00000" "Familial, autosomal recessive" "25y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000283928" "04214" "00390390" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283929" "04214" "00390391" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000284002" "05611" "00390464" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Neurological and Developmental Disorders" "" "0000284233" "04214" "00390745" "00000" "Familial, autosomal recessive" "39y" "Visual acuity right eye/left eye: light perception_light perception, vessel attenuation RPE mottling and spicule deposits from the midretina to the periphery" "0m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000284786" "04214" "00391346" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis 2 (204100)" "Leber congenital amaurosis 2 (204100)" "" "0000284889" "04214" "00391553" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "" "0000284890" "04214" "00391554" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000284891" "04214" "00391555" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "" "0000285004" "04214" "00391679" "00000" "Unknown" "" "" "<1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285005" "04214" "00391680" "00000" "Unknown" "" "" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285006" "04214" "00391681" "00000" "Unknown" "" "" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285007" "04214" "00391682" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/400;20/400" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285008" "04214" "00391683" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/125;20/125" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285009" "04214" "00391684" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/400;20/400" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285010" "04214" "00391685" "00000" "Unknown" "" "" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285011" "04214" "00391686" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/200;20/200" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285012" "04214" "00391687" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/400;counting fingers" "3m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285013" "04214" "00391688" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/1600;20/800" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285014" "04214" "00391689" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/200;20/200" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285015" "04214" "00391690" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/400;20/200" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285016" "04214" "00391691" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/40;20/40" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285017" "04214" "00391692" "00000" "Unknown" "" "best corrected visual acuity right/left eye: hand movement" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285018" "04214" "00391693" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/1600;20/1600" "<1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285019" "04214" "00391694" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/800:20/800" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285020" "04214" "00391695" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/100;20/200" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285021" "04214" "00391696" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception" "<1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285022" "04214" "00391697" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/800;20/1600" "<1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285023" "04214" "00391698" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/800;20/800" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285024" "04214" "00391699" "00000" "Unknown" "" "" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000285061" "04214" "00391736" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/40;20/30" "<7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285062" "04214" "00391737" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/200;20/400" "<7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285063" "04214" "00391738" "00000" "Unknown" "" "" "<7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285064" "04214" "00391739" "00000" "Unknown" "" "best corrected visual acuity right/left eye: Countingfingers" "<7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285065" "04214" "00391740" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/400;20/400" "<7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285066" "04214" "00391741" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/800;20/500" "<7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285067" "04214" "00391742" "00000" "Unknown" "" "best corrected visual acuity right/left eye: hand movement" "7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285068" "04214" "00391743" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/500;20/500" "7y" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "" "0000285540" "04214" "00392262" "00000" "Familial, autosomal recessive" "13y" "blue dot cataract type cataract, retinal dystrophy, nystagmus" "" "12y5m" "" "" "" "" "" "" "Leber congenital amaurosis 2" "" "" "0000285581" "04214" "00392305" "00000" "Familial, autosomal dominant" "82y" "impaired night vision, 50y - presumed Stargardt disease due to central vision loss, 66y her condition was re-labelled as adRD" "" "19y" "" "" "" "" "" "" "retinal dystrophy" "retinitis pigmentosa" "" "0000285582" "04214" "00392306" "00000" "Familial, autosomal dominant" "61y" "impaired night vision, retinitis pigmentosa diagnosis at 12y changed to Best at 20y, 39 years and underwent photorefractive keratectomy to correct left hypermetropic astigmatism" "" "20y" "" "" "" "" "" "" "Best disease" "retinitis pigmentosa" "" "0000285583" "04214" "00392307" "00000" "Familial, autosomal dominant" "60y" "clinical signs of RP without symptoms, electroretinography: responses reduced and delayed" "" "58y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000286690" "04214" "00393484" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286949" "04214" "00393743" "00000" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287113" "04214" "00393907" "00000" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287206" "04214" "00394000" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Inherited Retinal Dystrophies" "" "0000287213" "04214" "00394007" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Inherited Retinal Dystrophies" "" "0000287539" "04214" "00394335" "00000" "Unknown" "" "" "" "20y" "" "" "" "" "" "" "retinits pigmentosa" "" "" "0000287836" "04214" "00394633" "00000" "Familial, autosomal recessive" "61y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287837" "04214" "00394634" "00000" "Familial, autosomal recessive" "30y" "" "7y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000288939" "04214" "00395777" "00000" "Unknown" "13y7m" "" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289029" "04214" "00395867" "00000" "Unknown" "29y1m" "" "10y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289030" "04214" "00395868" "00000" "Unknown" "6y1m" "" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000289071" "04214" "00395909" "00000" "Unknown" "63y5m" "" "3y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289082" "04214" "00395920" "00000" "Unknown" "7y6m" "" "8y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000289375" "04214" "00396213" "00000" "Familial, autosomal recessive" "28y" "Childhood: night blindness" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289379" "04214" "00396217" "00000" "Familial, autosomal recessive" "6y" "1 year: convergent strabismus" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289382" "04214" "00396220" "00000" "Familial, autosomal recessive" "20y" "2 year: nystagmus" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289671" "04214" "00396510" "00000" "Isolated (sporadic)" "8y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000298499" "04214" "00406000" "00000" "Familial, autosomal recessive" "9m" "Nystagmus, photophobia" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298500" "04214" "00406001" "00000" "Familial, autosomal recessive" "" "visual acuity was 20/80 (6/24) in the right eye and 20/200 (6/60) in the left eye." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298501" "04214" "00406002" "00000" "Familial, autosomal recessive" "" "3y: severe visual impairment with nonrecordable electroretinogram in both eyes, normal anterior segment, and abnormal pigmentation in all four quadrants of the fundus with mild temporal pallor of the discs in both eyes" "4m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298878" "04214" "00406391" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298879" "04214" "00406392" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298880" "04214" "00406393" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: light perception, non-recordable electroretinogram, sandy diffuse peripheral pigmentary granularity and clumping, optic nerve atrophy" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298888" "04214" "00406401" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299060" "04214" "00406585" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000299061" "04214" "00406586" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "early-onset rod-cone dystrophy" "" "" "0000299062" "04214" "00406587" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "early-onset rod-cone dystrophy" "" "" "0000299063" "04214" "00406588" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000299064" "04214" "00406589" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "early-onset rod-cone dystrophy" "" "" "0000299065" "04214" "00406590" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299066" "04214" "00406591" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299067" "04214" "00406592" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000299071" "04214" "00406596" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000299072" "04214" "00406597" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000300182" "04214" "00408053" "00000" "Familial, autosomal recessive" "" "onset: 1st decade of life; no photophobia; nystagmus; decline in visual acuity: 1st decade; myopia; keratoconus; cataract; papillary pallor: moderate: 16 eyes, severe: 4 eyes; peripapillary atrophy; white flecks: 4 patients; pigment mottling: 8 patients; vessel attenuation; bone spicules; diffuse chorioretinal atrophy; optical coherence tomography: macular atrophy with an average thickness of 96 um (from 89 to 104 um) in 24 eyes; visual field: limited to a central island: 2 patients" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000300183" "04214" "00408054" "00000" "Familial, autosomal recessive" "" "onset: 1st decade of life; no photophobia; nystagmus; decline in visual acuity: 1st decade; myopia; keratoconus; cataract; papillary pallor: moderate: 16 eyes, severe: 4 eyes; peripapillary atrophy; white flecks: 4 patients; pigment mottling: 8 patients; vessel attenuation; bone spicules; diffuse chorioretinal atrophy; optical coherence tomography: macular atrophy with an average thickness of 96 um (from 89 to 104 um) in 24 eyes; visual field: limited to a central island: 2 patients" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000300184" "04214" "00408055" "00000" "Familial, autosomal recessive" "" "onset: 1st decade of life; no photophobia; nystagmus; decline in visual acuity: 1st decade; myopia; keratoconus; cataract; papillary pallor: moderate: 16 eyes, severe: 4 eyes; peripapillary atrophy; white flecks: 4 patients; pigment mottling: 8 patients; vessel attenuation; bone spicules; diffuse chorioretinal atrophy; optical coherence tomography: macular atrophy with an average thickness of 96 um (from 89 to 104 um) in 24 eyes; visual field: limited to a central island: 2 patients" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301996" "04214" "00409882" "00000" "Familial, autosomal recessive" "11y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 40.5/19; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 12/4; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye:0.31/1.6" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301997" "04214" "00409883" "00000" "Familial, autosomal recessive" "30y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 64/51; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 5.3/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 145/76; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye:no/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301999" "04214" "00409885" "00000" "Familial, autosomal recessive" "37y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 13.5/22; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 6.8/5.5; baseline Goldmann visual field, retinal area (mm2) right/left eye: 339/339; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/0.32" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302001" "04214" "00409887" "00000" "Familial, autosomal recessive" "29y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 63.5/59; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 204/195; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302002" "04214" "00409888" "00000" "Familial, autosomal recessive" "36y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 11.5/11.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 30/39; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302003" "04214" "00409889" "00000" "Familial, autosomal recessive" "28y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 0/0; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 1.0c/2.5 c; baseline Goldmann visual field, retinal area (mm2) right/left eye: 3/3; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302004" "04214" "00409890" "00000" "Familial, autosomal recessive" "30y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 39/10.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/14.6; baseline Goldmann visual field, retinal area (mm2) right/left eye: 12/59; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302005" "04214" "00409891" "00000" "Familial, autosomal recessive" "21y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 23/50; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/8; baseline Goldmann visual field, retinal area (mm2) right/left eye: 25/26; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: 0.62/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302006" "04214" "00409892" "00000" "Familial, autosomal recessive" "40y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 11/3; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 126/74; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/0.59" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302007" "04214" "00409893" "00000" "Familial, autosomal recessive" "24y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 33/29.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 145/35; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: 0.38/0.54" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302008" "04214" "00409894" "00000" "Familial, autosomal recessive" "26y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 3/45; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 6/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 191/135; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302009" "04214" "00409895" "00000" "Familial, autosomal recessive" "21y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 8/16.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/9.3; baseline Goldmann visual field, retinal area (mm2) right/left eye: 100/174; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: 0.81/0.51" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302010" "04214" "00409896" "00000" "Familial, autosomal recessive" "23y" "baseline visual acuity (ETDRS Letter Score) right/left eye: 17/61.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 11.7/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 68/54; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305928" "04214" "00414019" "00000" "Familial, autosomal recessive" "3y" "best corrected visual acuity right/left eye: No data; fundus: white or white-yellow dots in the periphery of the retina; without macular involvement; optical coherence tomography: no data; infrared reflectance/fundus autofluorescence: no data; fundus fluorescein angiography/indocyanine green angiography: no data; visual field: no data" "" "" "" "" "" "" "" "" "fundus albipunctatus" "" "" "0000311718" "04214" "00420470" "00000" "Familial, autosomal recessive" "13y7m" "" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311741" "04214" "00420493" "00000" "Familial, autosomal recessive" "63y5m" "" "3y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311745" "04214" "00420497" "00000" "Familial, autosomal recessive" "7y6m" "" "8y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000311791" "04214" "00420543" "00000" "Familial, autosomal recessive" "29y1m" "" "10y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311820" "04214" "00420572" "00000" "Familial, autosomal recessive" "6y1m" "" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000312649" "00112" "00421410" "04364" "Familial, autosomal recessive" "37y" "" "12y" "37y" "" "" "" "" "" "" "RP" "RP" "" "0000318061" "04214" "00426923" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000318062" "04214" "00426924" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000320373" "00112" "00429501" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320396" "00112" "00429524" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320581" "00112" "00429709" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320734" "00112" "00429862" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320812" "04210" "00429940" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320848" "00112" "00429976" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321019" "04210" "00430147" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336335" "00198" "00447136" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000336336" "00198" "00447137" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000336338" "00198" "00447139" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000336340" "00198" "00447141" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000336455" "00198" "00447256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336460" "00198" "00447261" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336470" "00198" "00447271" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336511" "00198" "00447312" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336768" "00198" "00447569" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336808" "00198" "00447609" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336891" "00198" "00447692" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336900" "00198" "00447701" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000347622" "00381" "00459546" "00006" "Familial, autosomal recessive" "14y" "see paper; ... early childhood severe visual loss; visual acuity 3/60 OD, counting fingers OS, nystagmus, fundus appearance of bilateral generalized retinal atrophy, mild arteriolar attenuation" "" "" "" "" "" "" "" "" "LCA2" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1075 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001589" "00001786" "1" "00102" "00102" "2013-08-08 18:23:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000024944" "00024941" "1" "01153" "01153" "2014-11-25 10:12:46" "" "" "SEQ" "DNA" "blood" "" "0000033176" "00033108" "1" "00229" "00229" "2012-02-04 16:10:11" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033197" "00033129" "1" "00229" "00229" "2012-02-04 16:10:11" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033427" "00033359" "1" "00039" "00039" "2012-09-19 09:14:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000033432" "00033364" "1" "00039" "00039" "2012-09-19 11:20:35" "" "" "SEQ" "DNA" "" "" "0000033748" "00033680" "1" "00239" "00239" "2014-12-01 05:54:36" "" "" "SEQ" "DNA" "" "" "0000033788" "00033720" "1" "00243" "00243" "2015-02-24 08:20:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000033789" "00033721" "1" "00243" "00243" "2015-02-24 10:07:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000038295" "00038064" "1" "01251" "01251" "2015-05-01 22:00:00" "" "" "arraySEQ" "DNA" "" "" "0000052359" "00052411" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052360" "00052412" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052361" "00052413" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052362" "00052414" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052363" "00052415" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052364" "00052416" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052365" "00052417" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052366" "00052418" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052367" "00052419" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052368" "00052420" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052369" "00052421" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052370" "00052422" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052371" "00052423" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052372" "00052424" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052373" "00052425" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052374" "00052426" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052375" "00052427" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052376" "00052428" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052377" "00052429" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052378" "00052430" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052379" "00052431" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052380" "00052432" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052381" "00052433" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052382" "00052434" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052383" "00052435" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052384" "00052436" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052385" "00052437" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052386" "00052438" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052387" "00052439" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052388" "00052440" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052389" "00052441" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052390" "00052442" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052391" "00052443" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052392" "00052444" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052393" "00052445" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052394" "00052446" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052395" "00052447" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052396" "00052448" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052397" "00052449" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052398" "00052450" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052399" "00052451" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052400" "00052452" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052401" "00052453" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052402" "00052454" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052403" "00052455" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052404" "00052456" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052405" "00052457" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052406" "00052458" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052407" "00052459" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052408" "00052460" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052409" "00052461" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052410" "00052462" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052411" "00052463" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052412" "00052464" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052413" "00052465" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052414" "00052466" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052415" "00052467" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052416" "00052468" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052417" "00052469" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052418" "00052470" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052419" "00052471" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052420" "00052472" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052421" "00052473" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052422" "00052474" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052423" "00052475" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052424" "00052476" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052425" "00052477" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052426" "00052478" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052427" "00052479" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052428" "00052480" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052429" "00052481" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052430" "00052482" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052431" "00052483" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052432" "00052484" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052433" "00052485" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052434" "00052486" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052435" "00052487" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052436" "00052488" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052437" "00052489" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052438" "00052490" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052439" "00052491" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052440" "00052492" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052441" "00052493" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052442" "00052494" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052443" "00052495" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052444" "00052496" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052445" "00052497" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052446" "00052498" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052447" "00052499" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052448" "00052500" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052449" "00052501" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052450" "00052502" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052451" "00052503" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052452" "00052504" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052453" "00052505" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052454" "00052506" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052455" "00052507" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052456" "00052508" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052457" "00052509" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052458" "00052510" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052459" "00052511" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000052460" "00052512" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052461" "00052513" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052462" "00052514" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052463" "00052515" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052464" "00052516" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052465" "00052517" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052466" "00052518" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052467" "00052519" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052468" "00052520" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052469" "00052521" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052470" "00052522" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052471" "00052523" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052472" "00052524" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052473" "00052525" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052474" "00052526" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052475" "00052527" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR" "DNA" "" "" "0000052476" "00052528" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000052477" "00052529" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052478" "00052530" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052479" "00052531" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052480" "00052532" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052481" "00052533" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052482" "00052534" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052483" "00052535" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052484" "00052536" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052485" "00052537" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052486" "00052538" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052487" "00052539" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052488" "00052540" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052489" "00052541" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052490" "00052542" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052491" "00052543" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052492" "00052544" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052493" "00052545" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052494" "00052546" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052495" "00052547" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052496" "00052548" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052497" "00052549" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052498" "00052550" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052499" "00052551" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052500" "00052552" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052501" "00052553" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052502" "00052554" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052503" "00052555" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052504" "00052556" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052505" "00052557" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052506" "00052558" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052507" "00052559" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052508" "00052560" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySNP;PCR;SEQ" "DNA" "" "" "0000052509" "00052561" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052510" "00052562" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052511" "00052563" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052512" "00052564" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052513" "00052565" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052514" "00052566" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052515" "00052567" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052516" "00052568" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052517" "00052569" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052518" "00052570" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052519" "00052571" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052520" "00052572" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052521" "00052573" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052522" "00052574" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052523" "00052575" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052524" "00052576" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000052525" "00052577" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052526" "00052578" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052527" "00052579" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052528" "00052580" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052529" "00052581" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052530" "00052582" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052531" "00052583" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052532" "00052584" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052533" "00052585" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052534" "00052586" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052535" "00052587" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052536" "00052588" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052537" "00052589" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052538" "00052590" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052539" "00052591" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052540" "00052592" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052541" "00052593" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052542" "00052594" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052543" "00052595" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052544" "00052596" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052545" "00052597" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052546" "00052598" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052547" "00052599" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052548" "00052600" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052549" "00052601" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052550" "00052602" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052551" "00052603" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052552" "00052604" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052553" "00052605" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052554" "00052606" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052555" "00052607" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052556" "00052608" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052557" "00052609" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052558" "00052610" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052559" "00052611" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052560" "00052612" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052561" "00052613" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052562" "00052614" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052563" "00052615" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052564" "00052616" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052565" "00052617" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052566" "00052618" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052567" "00052619" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052568" "00052620" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052569" "00052621" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052570" "00052622" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052571" "00052623" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052572" "00052624" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052573" "00052625" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052574" "00052626" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052575" "00052627" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052576" "00052628" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052577" "00052629" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052578" "00052630" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052579" "00052631" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052580" "00052632" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052581" "00052633" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052582" "00052634" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;PAGE;SEQ" "DNA" "" "" "0000052583" "00052635" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;PAGE;SEQ" "DNA" "" "" "0000052584" "00052636" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052585" "00052637" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052586" "00052638" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052587" "00052639" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052588" "00052640" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052589" "00052641" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052590" "00052642" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052591" "00052643" "1" "01424" "01424" "2015-10-26 17:05:36" "00006" "2015-10-26 17:32:53" "arraySEQ" "DNA" "" "" "0000052592" "00052644" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052593" "00052645" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052594" "00052646" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052595" "00052647" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052596" "00052648" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052597" "00052649" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052598" "00052650" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052599" "00052651" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052600" "00052652" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052601" "00052653" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052602" "00052654" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052603" "00052655" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052604" "00052656" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052605" "00052657" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052606" "00052658" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052607" "00052659" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052608" "00052660" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ;PCR;DHPLC" "DNA" "" "" "0000052609" "00052661" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052610" "00052662" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052611" "00052663" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052612" "00052664" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052613" "00052665" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA;protein" "" "" "0000052614" "00052666" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA;protein" "" "" "0000052615" "00052667" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052616" "00052668" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052617" "00052669" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052618" "00052670" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052619" "00052671" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052620" "00052672" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052621" "00052673" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052622" "00052674" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052623" "00052675" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052624" "00052676" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052625" "00052677" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;SEQ" "DNA" "" "" "0000052626" "00052678" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052627" "00052679" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052628" "00052680" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;DHPLC" "DNA;protein" "" "" "0000052629" "00052681" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;DHPLC" "DNA;protein" "" "" "0000052630" "00052682" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052631" "00052683" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052632" "00052684" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052633" "00052685" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052634" "00052686" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052635" "00052687" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052636" "00052688" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052637" "00052689" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052638" "00052690" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052639" "00052691" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052640" "00052692" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052641" "00052693" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCRm;SEQ" "DNA" "" "" "0000052642" "00052694" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052643" "00052695" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052644" "00052696" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052645" "00052697" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052646" "00052698" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052647" "00052699" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052648" "00052700" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052649" "00052701" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052650" "00052702" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052651" "00052703" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052652" "00052704" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052653" "00052705" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052654" "00052706" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052655" "00052707" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052656" "00052708" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052657" "00052709" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052658" "00052710" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052659" "00052711" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052660" "00052712" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052661" "00052713" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052662" "00052714" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052663" "00052715" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052664" "00052716" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052665" "00052717" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052666" "00052718" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052667" "00052719" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052668" "00052720" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ" "DNA" "" "" "0000052669" "00052721" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ" "DNA" "" "" "0000052670" "00052722" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052671" "00052723" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052672" "00052724" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052673" "00052725" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052674" "00052726" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052675" "00052727" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052676" "00052728" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052677" "00052729" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000052678" "00052730" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052679" "00052731" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052680" "00052732" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052681" "00052733" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052682" "00052734" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052683" "00052735" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052684" "00052736" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052685" "00052737" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052686" "00052738" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052687" "00052739" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052688" "00052740" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052689" "00052741" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052690" "00052742" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052691" "00052743" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052692" "00052744" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052693" "00052745" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052694" "00052746" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052695" "00052747" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052696" "00052748" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052697" "00052749" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052698" "00052750" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052699" "00052751" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052700" "00052752" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052701" "00052753" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052702" "00052754" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052703" "00052755" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052704" "00052756" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052705" "00052757" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052706" "00052758" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052707" "00052759" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052708" "00052760" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052709" "00052761" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052710" "00052762" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052711" "00052763" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052712" "00052764" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052713" "00052765" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052714" "00052766" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052715" "00052767" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052716" "00052768" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052717" "00052769" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052718" "00052770" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052719" "00052771" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052720" "00052772" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052722" "00052774" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052723" "00052775" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052724" "00052776" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052725" "00052777" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052726" "00052778" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052727" "00052779" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052728" "00052780" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052729" "00052781" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052730" "00052782" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052731" "00052783" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052732" "00052784" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052733" "00052785" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052734" "00052786" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052735" "00052787" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052736" "00052788" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052737" "00052789" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052738" "00052790" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052739" "00052791" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052740" "00052792" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052741" "00052793" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052742" "00052794" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052743" "00052795" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052744" "00052796" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052745" "00052797" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052746" "00052798" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052747" "00052799" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052748" "00052800" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052749" "00052801" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052750" "00052802" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052751" "00052803" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000052752" "00052804" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SSCA" "DNA" "" "" "0000052753" "00052805" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052754" "00052806" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052755" "00052807" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052756" "00052808" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052757" "00052809" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052758" "00052810" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052759" "00052811" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052760" "00052812" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052761" "00052813" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052762" "00052814" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052763" "00052815" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052764" "00052816" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052765" "00052817" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052766" "00052818" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCRdig" "DNA" "" "" "0000052767" "00052819" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCRdig" "DNA" "" "" "0000052768" "00052820" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052769" "00052821" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052770" "00052822" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052771" "00052823" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052772" "00052824" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052773" "00052825" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052774" "00052826" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052775" "00052827" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052776" "00052828" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052777" "00052829" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052778" "00052830" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052779" "00052831" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052780" "00052832" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000052783" "00052835" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000052784" "00052836" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000052785" "00052837" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000052786" "00052838" "1" "01424" "01424" "2015-10-26 17:05:36" "00006" "2015-10-26 17:47:10" "PCR;SEQ;SEQ-NG-S" "DNA" "" "" "0000052787" "00052839" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG-S;PCR;SEQ" "DNA" "" "" "0000052788" "00052840" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000052789" "00052841" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052790" "00052842" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052791" "00052843" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000052792" "00052844" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000052793" "00052845" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000052794" "00052846" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052795" "00052847" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052796" "00052848" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000052799" "00052851" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052800" "00052852" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052801" "00052853" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052802" "00052854" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052803" "00052855" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052804" "00052856" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052805" "00052857" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052806" "00052858" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052807" "00052859" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052808" "00052860" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052809" "00052861" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052810" "00052862" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052811" "00052863" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052812" "00052864" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052813" "00052865" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052814" "00052866" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052815" "00052867" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052816" "00052868" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052817" "00052869" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052818" "00052870" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052819" "00052871" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052820" "00052872" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052821" "00052873" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052822" "00052874" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052823" "00052875" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052824" "00052876" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052825" "00052877" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052826" "00052878" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052827" "00052879" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052828" "00052880" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052829" "00052881" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052830" "00052882" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052831" "00052883" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052832" "00052884" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052833" "00052885" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052834" "00052886" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052835" "00052887" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052836" "00052888" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052837" "00052889" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052838" "00052890" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052839" "00052891" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052840" "00052892" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052841" "00052893" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052842" "00052894" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052843" "00052895" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052844" "00052896" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052845" "00052897" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052846" "00052898" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052847" "00052899" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052848" "00052900" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052849" "00052901" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052850" "00052902" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052851" "00052903" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052852" "00052904" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052853" "00052905" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052854" "00052906" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052855" "00052907" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052856" "00052908" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052857" "00052909" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052858" "00052910" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052859" "00052911" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052860" "00052912" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052861" "00052913" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052862" "00052914" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052863" "00052915" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052864" "00052916" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052865" "00052917" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052866" "00052918" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052867" "00052919" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000052868" "00052920" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052869" "00052921" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052870" "00052922" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "PCR;SEQ" "DNA" "" "" "0000052871" "00052923" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052872" "00052924" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052873" "00052925" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052874" "00052926" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052875" "00052927" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052876" "00052928" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052877" "00052929" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052878" "00052930" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052879" "00052931" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052880" "00052932" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052881" "00052933" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052882" "00052934" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052883" "00052935" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052884" "00052936" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052885" "00052937" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052886" "00052938" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052887" "00052939" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052888" "00052940" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052889" "00052941" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052890" "00052942" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052891" "00052943" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052892" "00052944" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052893" "00052945" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "?" "DNA" "" "" "0000052894" "00052946" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000052895" "00052947" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000052896" "00052948" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000052897" "00052949" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000052898" "00052950" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "RT-PCR;HPLC;PAGE" "DNA" "" "" "0000096330" "00095927" "1" "01769" "01769" "2017-01-25 20:40:12" "" "" "SEQ" "DNA" "WBC" "" "0000100482" "00100078" "1" "01769" "01769" "2017-01-30 16:06:50" "" "" "SEQ" "DNA" "WBC" "" "0000100495" "00100092" "1" "01769" "01769" "2017-01-30 18:22:35" "" "" "SEQ" "DNA" "WBC" "" "0000100514" "00100110" "1" "01769" "01769" "2017-01-30 20:33:29" "" "" "SEQ" "DNA" "WBC" "" "0000100515" "00100111" "1" "01769" "01769" "2017-01-30 20:38:15" "" "" "SEQ" "DNA" "WBC" "" "0000100521" "00100117" "1" "01769" "01769" "2017-01-30 21:13:32" "" "" "SEQ" "DNA" "WBC" "" "0000144774" "00143915" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000156409" "00155544" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156410" "00155545" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156411" "00155546" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156412" "00155547" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000208733" "00207692" "1" "01244" "01244" "2018-11-28 15:00:16" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000209881" "00208832" "1" "02959" "02959" "2018-12-17 17:37:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000209882" "00208833" "1" "02959" "02959" "2018-12-17 19:21:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000209897" "00208834" "1" "02959" "02959" "2018-12-18 20:51:48" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209898" "00208834" "1" "02959" "02959" "2018-12-18 21:14:14" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209899" "00208835" "1" "02959" "02959" "2018-12-18 21:21:21" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209900" "00208836" "1" "02959" "02959" "2018-12-18 21:39:24" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209901" "00208852" "1" "02959" "02959" "2018-12-18 22:35:48" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209902" "00208853" "1" "02959" "02959" "2018-12-18 22:52:54" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209903" "00208854" "1" "02959" "02959" "2018-12-18 23:19:46" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209904" "00208855" "1" "02959" "02959" "2018-12-18 23:31:20" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209905" "00208856" "1" "02959" "02959" "2018-12-18 23:39:40" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209906" "00208857" "1" "02959" "02959" "2018-12-18 23:50:59" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209907" "00208858" "1" "02959" "02959" "2018-12-19 00:07:50" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209908" "00208859" "1" "02959" "02959" "2018-12-19 00:24:27" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209909" "00208860" "1" "02959" "02959" "2018-12-19 00:34:13" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209910" "00208861" "1" "02959" "02959" "2018-12-19 00:43:13" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209911" "00208862" "1" "02959" "02959" "2018-12-19 00:52:34" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209912" "00208863" "1" "02959" "02959" "2018-12-19 00:59:07" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209913" "00208864" "1" "02959" "02959" "2018-12-19 01:08:48" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209914" "00208864" "1" "02959" "02959" "2018-12-19 01:23:37" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209915" "00208865" "1" "02959" "02959" "2018-12-19 01:44:00" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209916" "00208866" "1" "02959" "02959" "2018-12-19 01:51:55" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209917" "00208867" "1" "02959" "02959" "2018-12-19 01:57:50" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209918" "00208868" "1" "02959" "02959" "2018-12-19 02:16:28" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209919" "00208869" "1" "02959" "02959" "2018-12-19 02:26:07" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209920" "00208870" "1" "02959" "02959" "2018-12-19 02:31:03" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209921" "00208871" "1" "02959" "02959" "2018-12-19 02:37:55" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209922" "00208872" "1" "02959" "02959" "2018-12-19 02:43:31" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000209923" "00208873" "1" "02959" "02959" "2018-12-19 02:48:30" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000232995" "00231896" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000232996" "00231897" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000232997" "00231898" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000232998" "00231899" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000232999" "00231900" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233000" "00231901" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233001" "00231902" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233002" "00231903" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233003" "00231904" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233004" "00231905" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233005" "00231906" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233006" "00231907" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234692" "00233593" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000241565" "00240455" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000241566" "00240456" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000241567" "00240457" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000241568" "00240458" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000270739" "00269582" "1" "03508" "03508" "2019-12-01 06:39:16" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000291081" "00289913" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291082" "00289914" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291083" "00289915" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309700" "00308555" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309701" "00308556" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309780" "00308635" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310525" "00309380" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310526" "00309381" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310527" "00309382" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310528" "00309383" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326658" "00325447" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326664" "00325453" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326680" "00325469" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326687" "00325476" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326695" "00325484" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326713" "00325502" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000327911" "00326698" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "arraySEQ" "DNA" "blood" "" "0000328605" "00327393" "1" "03980" "03980" "2021-01-20 18:46:43" "" "" "SEQ-NG" "DNA" "Immortalized Lymphoblast" "" "0000329536" "00328321" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000330023" "00328807" "1" "00006" "00006" "2021-01-29 19:18:38" "" "" "SEQ" "DNA" "" "" "0000330024" "00328808" "1" "00006" "00006" "2021-01-29 19:31:44" "" "" "SEQ" "DNA" "" "" "0000330025" "00328809" "1" "00006" "00006" "2021-01-30 18:44:20" "" "" "SEQ" "DNA" "" "" "0000330026" "00328810" "1" "00006" "00006" "2021-01-30 19:04:33" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "blood, IPSC" "0000330049" "00328833" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330050" "00328834" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330051" "00328835" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330052" "00328836" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330053" "00328837" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330054" "00328838" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330055" "00328839" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330056" "00328840" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330057" "00328841" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330058" "00328842" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330059" "00328843" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330060" "00328844" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330061" "00328845" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330062" "00328846" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330063" "00328847" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330064" "00328848" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330065" "00328849" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330066" "00328850" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330067" "00328851" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330068" "00328852" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330069" "00328853" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330070" "00328854" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330071" "00328855" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330072" "00328856" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330073" "00328857" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330074" "00328858" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330075" "00328859" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330076" "00328860" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330077" "00328861" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330078" "00328862" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330079" "00328863" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330080" "00328864" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330081" "00328865" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330082" "00328866" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330083" "00328867" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330084" "00328868" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330085" "00328869" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330086" "00328870" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330087" "00328871" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330088" "00328872" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" "" "0000330089" "00328873" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000330090" "00328874" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330091" "00328875" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330092" "00328876" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330093" "00328877" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330094" "00328878" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330095" "00328879" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000330096" "00328880" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330097" "00328881" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000330098" "00328882" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000330099" "00328883" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000330100" "00328884" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000330101" "00328885" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330104" "00328887" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330105" "00328888" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330106" "00328889" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330107" "00328890" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330108" "00328891" "1" "00000" 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"2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330219" "00329002" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330220" "00329003" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330221" "00329004" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330222" "00329005" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330223" "00329006" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330224" "00329007" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000330225" "00329008" "1" "00000" "00006" "2021-02-02 11:56:07" "" "" "SEQ" "DNA" "" "" "0000332509" "00331289" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000333434" "00332214" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333435" "00332215" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333480" 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"1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335189" "00333963" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335207" "00333981" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335694" "00334465" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000335695" "00334466" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000335696" "00334467" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336116" "00334887" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336117" "00334888" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336118" "00334889" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336119" "00334890" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336120" "00334891" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336385" "00335156" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336386" "00335157" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336387" "00335158" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336388" "00335159" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336472" "00335243" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000336627" "00335398" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336642" "00335413" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336682" "00335453" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000336684" "00335455" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000336724" "00335495" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel" "0000336725" "00335496" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel" "0000336726" "00335497" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel" "0000336834" "00335606" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000336835" "00335607" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000337221" "00335991" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360154" "00358921" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360291" "00359053" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360308" "00359070" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360314" "00359076" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360325" "00359087" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360415" "00359177" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000364676" "00363448" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000364803" "00363575" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364843" "00363615" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364858" "00363630" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364859" "00363631" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364895" "00363667" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364904" "00363676" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364981" "00363753" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365116" "00363888" "1" "00006" "00006" "2021-04-30 16:33:59" "" "" "SEQ" "DNA" "" "" "0000365117" "00363889" "1" "00006" "00006" "2021-04-30 16:35:49" "" "" "SEQ" "DNA" "" "" "0000373295" "00372067" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "arraySNP;SEQ" "DNA" "" "" "0000373301" "00372073" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "arraySNP;SEQ" "DNA" "" "" "0000373641" "00372408" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373679" "00372446" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373720" "00372487" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373721" "00372488" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373723" "00372490" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373731" "00372498" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373880" "00372648" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374599" "00373364" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX" "0000374645" "00373410" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "arraySNP;SEQ" "DNA" "" "" "0000374646" "00373411" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "arraySNP;SEQ" "DNA" "" "" "0000375127" "00373895" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376092" "00374898" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376149" "00374955" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376485" "00375288" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376539" "00375342" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000377988" "00376782" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378031" "00376826" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378466" "00377261" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378474" "00377269" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378475" "00377270" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000379029" "00377825" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379099" "00377895" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379108" "00377904" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379110" "00377906" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379114" "00377910" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379230" "00378029" "1" "03508" "03508" "2021-08-03 09:14:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000380726" "00379526" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "?" "DNA" "blood" "" "0000380961" "00379760" "1" "03508" "03508" "2021-08-09 05:09:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000381082" "00379880" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381530" "00380316" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381531" "00380317" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000382239" "00381025" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382249" "00381035" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382284" "00381070" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000382358" "00381143" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "" "0000382359" "00381144" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "" "0000382362" "00381147" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "" "0000382364" "00381149" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "" "0000382365" "00381150" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "" "0000382411" "00381196" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382821" "00381605" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382831" "00381615" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382865" "00381649" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382916" "00381700" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383159" "00381943" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383160" "00381944" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383352" "00382136" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383353" "00382137" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383632" "00382418" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383633" "00382419" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383813" "00382599" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383814" "00382600" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384679" "00383454" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384680" "00383455" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000385000" "00383775" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385352" "00384127" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385423" "00384198" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385425" "00384200" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385426" "00384201" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385434" "00384209" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385636" "00384411" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385677" "00384452" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385698" "00384473" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385725" "00384500" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385975" "00384749" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000386003" "00384777" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000386004" "00384778" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000386232" "00385003" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386233" "00385004" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386234" "00385005" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386235" "00385006" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386239" "00385010" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386250" "00385021" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386252" "00385023" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386261" "00385032" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386272" "00385043" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386274" "00385045" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386284" "00385055" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386303" "00385074" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386314" "00385085" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ" "DNA" "" "Sanger sequencing" "0000386321" "00385092" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386946" "00385718" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 1 containing 70 genes" "0000386957" "00385729" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Whole exome sequencing" "0000386962" "00385734" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 6 containing 386 genes" "0000387488" "00386259" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387516" "00386287" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387822" "00386594" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387953" "00386725" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000389413" "00388174" "1" "00000" "03840" "2021-11-02 11:59:44" "" "" "SEQ-NG" "DNA" "blood" "targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing" "0000389717" "00388476" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000390053" "00388810" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390061" "00388818" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390259" "00389016" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390260" "00389017" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390261" "00389018" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390299" "00389056" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391631" "00390390" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391632" "00390391" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391705" "00390464" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391986" "00390745" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "arraySNP" "0000392588" "00391346" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392795" "00391553" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392796" "00391554" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392797" "00391555" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392920" "00391679" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392921" "00391680" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392922" "00391681" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392923" "00391682" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392924" "00391683" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392925" "00391684" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392926" "00391685" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392927" "00391686" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392928" "00391687" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392929" "00391688" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392930" "00391689" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392931" "00391690" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392932" "00391691" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392933" "00391692" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392934" "00391693" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392935" "00391694" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392936" "00391695" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392937" "00391696" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392938" "00391697" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392939" "00391698" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392940" "00391699" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392977" "00391736" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392978" "00391737" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392979" "00391738" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392980" "00391739" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392981" "00391740" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392982" "00391741" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392983" "00391742" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392984" "00391743" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000393504" "00392262" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000393547" "00392305" "1" "00000" "03840" "2021-11-22 13:18:51" "" "" "SEQ-NG" "DNA" "blood" "MVL Vision Panel v2 incorporating copy number variation analysis" "0000393548" "00392306" "1" "00000" "03840" "2021-11-22 13:18:51" "" "" "SEQ-NG" "DNA" "blood" "MVL Vision Panel v2 incorporating copy number variation analysis" "0000393549" "00392307" "1" "00000" "03840" "2021-11-22 13:18:51" "" "" "SEQ-NG" "DNA" "blood" "MVL Vision Panel v2 incorporating copy number variation analysis" "0000394732" "00393484" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000394991" "00393743" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395155" "00393907" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395248" "00394000" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;arraySNP;PCR;SEQ" "DNA" "blood" "WES" "0000395255" "00394007" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;arraySNP;PCR;SEQ" "DNA" "blood" "WES" "0000395582" "00394335" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395880" "00394633" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395881" "00394634" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397016" "00395777" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397106" "00395867" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397107" "00395868" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397148" "00395909" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397159" "00395920" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397454" "00396213" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397458" "00396217" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397461" "00396220" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397753" "00396510" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407241" "00406000" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "?" "DNA" "" "microarray chip" "0000407242" "00406001" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "SEQ" "DNA" "blood" "allele-specific ligation assay and bidirectional sequencing" "0000407243" "00406002" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "SEQ" "DNA" "blood" "allele-specific ligation assay and bidirectional sequencing" "0000407633" "00406391" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407634" "00406392" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407635" "00406393" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407643" "00406401" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407828" "00406585" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407829" "00406586" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407830" "00406587" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407831" "00406588" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407832" "00406589" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407833" "00406590" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407834" "00406591" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407835" "00406592" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407839" "00406596" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000407840" "00406597" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000409308" "00408053" "1" "00000" "03840" "2022-04-13 12:09:21" "" "" "arraySNP;SEQ" "DNA" "" "" "0000409309" "00408054" "1" "00000" "03840" "2022-04-13 12:09:21" "" "" "arraySNP;SEQ" "DNA" "" "" "0000409310" "00408055" "1" "00000" "03840" "2022-04-13 12:09:21" "" "" "arraySNP;SEQ" "DNA" "" "" "0000411145" "00409882" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411146" "00409883" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411148" "00409885" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411150" "00409887" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411151" "00409888" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411152" "00409889" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411153" "00409890" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411154" "00409891" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411155" "00409892" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411156" "00409893" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411157" "00409894" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411158" "00409895" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000411159" "00409896" "1" "00000" "03840" "2022-05-13 13:40:26" "" "" "?" "DNA" "" "patients already genotyped for clinical trials" "0000415297" "00414019" "1" "00000" "03840" "2022-07-26 17:22:02" "" "" "SEQ" "DNA" "blood" "" "0000421779" "00420470" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421802" "00420493" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421806" "00420497" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421852" "00420543" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421881" "00420572" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000422721" "00421410" "1" "04364" "04364" "2022-11-05 10:31:31" "" "" "SEQ-NG" "DNA" "" "" "0000428243" "00426923" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428244" "00426924" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000430914" "00429501" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430937" "00429524" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431122" "00429709" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431275" "00429862" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431353" "00429940" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431389" "00429976" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431560" "00430147" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000448713" "00447136" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448714" "00447137" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448716" "00447139" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448718" "00447141" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448833" "00447256" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448838" "00447261" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448848" "00447271" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448889" "00447312" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449146" "00447569" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449186" "00447609" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449269" "00447692" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449278" "00447701" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000461172" "00459546" "1" "00006" "00006" "2025-01-09 16:10:04" "" "" "arraySEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1015 "{{screeningid}}" "{{geneid}}" "0000024944" "RPE65" "0000033176" "GUCA1B" "0000033176" "RPE65" "0000033197" "RPE65" "0000033197" "TOPORS" "0000033427" "RPE65" "0000033432" "RPE65" "0000033748" "RPE65" "0000033788" "RPE65" "0000033789" "RPE65" "0000038295" "CRB1" "0000052359" "RPE65" "0000052360" "RPE65" "0000052361" "RPE65" "0000052362" "RPE65" "0000052363" "RPE65" "0000052364" "RPE65" "0000052365" "RPE65" "0000052366" "RPE65" "0000052367" "RPE65" "0000052368" "RPE65" "0000052369" "RPE65" "0000052370" "RPE65" "0000052371" "RPE65" "0000052372" "RPE65" "0000052373" "RPE65" "0000052374" "RPE65" "0000052375" "RPE65" "0000052376" "RPE65" "0000052377" "RPE65" "0000052378" "RPE65" "0000052379" "RPE65" 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"RPE65" "0000330199" "RPE65" "0000330200" "RPE65" "0000330201" "RPE65" "0000330202" "RPE65" "0000330203" "RPE65" "0000330204" "RPE65" "0000330205" "RPE65" "0000330206" "RPE65" "0000330207" "RPE65" "0000330208" "RPE65" "0000330209" "RPE65" "0000330210" "RPE65" "0000330211" "RPE65" "0000330212" "RPE65" "0000330213" "RPE65" "0000330214" "RPE65" "0000330215" "RPE65" "0000330216" "RPE65" "0000330217" "RPE65" "0000330218" "RPE65" "0000330219" "RPE65" "0000330220" "RPE65" "0000330221" "RPE65" "0000330222" "RPE65" "0000330223" "RPE65" "0000330224" "RPE65" "0000330225" "RPE65" "0000332509" "RPE65" "0000333480" "RPE65" "0000333481" "RPE65" "0000333482" "RPE65" "0000333582" "RPE65" "0000333583" "RPE65" "0000334573" "RPE65" "0000334636" "RPE65" "0000334694" "RPE65" "0000334695" "RPE65" "0000334702" "RPE65" "0000335188" "RPE65" "0000335189" "RPE65" "0000335207" "RPE65" "0000335694" "RPE65" "0000335695" "RPE65" "0000335696" "RPE65" "0000336116" "RPE65" "0000336117" "RPE65" "0000336118" "RPE65" "0000336119" "RPE65" "0000336120" "RPE65" "0000336385" "RPE65" "0000336386" "RPE65" "0000336387" "RPE65" "0000336388" "RPE65" "0000336472" "RPE65" "0000336627" "RPE65" "0000336642" "RPE65" "0000336682" "ABCA4" "0000336684" "RPE65" "0000336724" "RPE65" "0000336725" "RPE65" "0000336726" "RPE65" "0000336834" "RPE65" "0000336835" "RPE65" "0000337221" "RPE65" "0000360154" "RPE65" "0000364676" "RPE65" "0000364803" "RPE65" "0000364843" "RPE65" "0000364858" "RPE65" "0000364859" "RPE65" "0000364895" "RPE65" "0000364904" "RPE65" "0000364981" "RPE65" "0000365116" "RPE65" "0000365117" "RPE65" "0000373295" "RPE65" "0000373301" "RPE65" "0000373641" "RPE65" "0000373679" "RPE65" "0000373720" "RPE65" "0000373721" "RPE65" "0000373723" "RPE65" "0000373731" "RPE65" "0000374645" "RPE65" "0000374646" "RPE65" "0000375127" "RPE65" "0000376485" "RPE65" "0000376539" "RPE65" "0000378466" "RPE65" "0000378474" "RPE65" "0000378475" "RPE65" "0000379029" "RPE65" "0000379099" "RPE65" "0000379108" "GUCY2D" "0000379110" "GUCY2D" "0000379114" "RPGRIP1" "0000380726" "RPE65" "0000381082" "RPE65" "0000381530" "RPE65" "0000381531" "RPE65" "0000382239" "CEP290" "0000382249" "RPE65" "0000382284" "RPE65" "0000382358" "RPE65" "0000382359" "RPE65" "0000382362" "RPE65" "0000382364" "RPE65" "0000382365" "RPE65" "0000382411" "RPE65" "0000382821" "PRPF31" "0000382831" "RPGRIP1" "0000382865" "RPE65" "0000382916" "RPE65" "0000383352" "RPE65" "0000383353" "PDE6B" "0000383632" "RPE65" "0000383633" "EYS" "0000383813" "RPE65" "0000383814" "RPE65" "0000384679" "RPE65" "0000384680" "RPE65" "0000385000" "RPE65" "0000385352" "RPE65" "0000385423" "RPE65" "0000385425" "RPE65" "0000385426" "RPE65" "0000385434" "RPE65" "0000385636" "RPE65" "0000385677" "RPE65" "0000385698" "RPE65" "0000385725" "RPE65" "0000385975" "RPE65" "0000386003" "RPE65" "0000386004" "RPE65" "0000386232" "RPE65" "0000386233" "RPE65" "0000386234" "RPE65" "0000386235" "RPE65" "0000386239" "RPE65" "0000386250" "RPE65" "0000386252" "RPE65" "0000386261" "RPE65" "0000386272" "RPE65" "0000386274" "RPE65" "0000386284" "RPE65" "0000386303" "RPE65" "0000386314" "RPE65" "0000386321" "RPE65" "0000386946" "RPE65" "0000386957" "RPE65" "0000386962" "RPE65" "0000387488" "RPE65" "0000387516" "ROM1" "0000387822" "RPE65" "0000387953" "RPE65" "0000389413" "RPE65" "0000389717" "RPE65" "0000390053" "RPE65" "0000390061" "RPE65" "0000390259" "RPE65" "0000390260" "RPE65" "0000390261" "RPE65" "0000390299" "RPE65" "0000391631" "RPE65" "0000391632" "RPE65" "0000391705" "RPE65" "0000391986" "RPE65" "0000392588" "RPE65" "0000392795" "RPE65" "0000392796" "RPE65" "0000392797" "RPE65" "0000392920" "RPE65" "0000392921" "RPE65" "0000392922" "RPE65" "0000392923" "RPE65" "0000392924" "RPE65" "0000392925" "RPE65" "0000392926" "RPE65" "0000392927" "RPE65" "0000392928" "RPE65" "0000392929" "RPE65" "0000392930" "RPE65" "0000392931" "RPE65" "0000392932" "RPE65" "0000392933" "RPE65" "0000392934" "RPE65" "0000392935" "RPE65" "0000392936" "RPE65" "0000392937" "RPE65" "0000392938" "RPE65" "0000392939" "RPE65" "0000392940" "RPE65" "0000392977" "RPE65" "0000392978" "RPE65" "0000392979" "RPE65" "0000392980" "RPE65" "0000392981" "RPE65" "0000392982" "RPE65" "0000392983" "RPE65" "0000392984" "RPE65" "0000393504" "RPE65" "0000393547" "RPE65" "0000393548" "RPE65" "0000393549" "RPE65" "0000394732" "RPE65" "0000394991" "RPE65" "0000395155" "RPE65" "0000395248" "RPE65" "0000395255" "RPE65" "0000395582" "RPE65" "0000395880" "RPE65" "0000395881" "RPE65" "0000397016" "RPE65" "0000397106" "RPE65" "0000397107" "RPE65" "0000397148" "RPE65" "0000397159" "RPE65" "0000397454" "RPE65" "0000397458" "RPE65" "0000397461" "RPE65" "0000397753" "PDE6B" "0000407241" "RPE65" "0000407242" "RPE65" "0000407243" "RPE65" "0000407633" "RPE65" "0000407634" "RPE65" "0000407635" "RPE65" "0000407643" "AIPL1" "0000407828" "RPE65" "0000407829" "RPE65" "0000407830" "RPE65" "0000407831" "RPE65" "0000407832" "RPE65" "0000407833" "RPE65" "0000407834" "RPE65" "0000407835" "RPE65" "0000407839" "RPE65" "0000407840" "RPE65" "0000409308" "RPE65" "0000409309" "RPE65" "0000409310" "RPE65" "0000411145" "RPE65" "0000411146" "RPE65" "0000411148" "RPE65" "0000411150" "RPE65" "0000411151" "RPE65" "0000411152" "RPE65" "0000411153" "RPE65" "0000411154" "RPE65" "0000411155" "RPE65" "0000411156" "RPE65" "0000411157" "RPE65" "0000411158" "RPE65" "0000411159" "RPE65" "0000415297" "RPE65" "0000421779" "RPE65" "0000421802" "RPE65" "0000421806" "RPE65" "0000421852" "RPE65" "0000421881" "RPE65" "0000422721" "RPE65" "0000428243" "RPE65" "0000428244" "RPE65" "0000430914" "RPE65" "0000430937" "RPE65" "0000431122" "RPE65" "0000431275" "RPE65" "0000431353" "RPE65" "0000431389" "RPE65" "0000431560" "RPE65" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 1537 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000019484" "0" "90" "1" "68904734" "68904734" "del" "0" "00102" "RPE65_000008" "g.68904734del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.68439051del" "" "pathogenic (recessive)" "" "0000047750" "3" "70" "1" "68904631" "68904631" "subst" "8.12506E-6" "01153" "RPE65_000010" "g.68904631C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68438948C>T" "" "likely pathogenic (recessive)" "" "0000047751" "3" "70" "1" "68910339" "68910339" "subst" "3.65649E-5" "01153" "RPE65_000011" "g.68910339G>A" "" "" "" "" "" "Germline" "yes" "rs61752877" "0" "" "" "g.68444656G>A" "" "likely pathogenic (recessive)" "" "0000060420" "2" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00229" "RPE65_000001" "g.68903896A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000060421" "1" "70" "1" "68912430" "68912430" "subst" "0" "00229" "RPE65_000002" "g.68912430A>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.68446747A>C" "" "likely pathogenic (recessive)" "" "0000060422" "1" "70" "1" "68910541" "68910541" "subst" "5.28498E-5" "00229" "RPE65_000003" "g.68910541G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000060423" "2" "70" "1" "68905254" "68905254" "subst" "4.06279E-6" "00229" "RPE65_000004" "g.68905254A>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000060424" "3" "90" "1" "68910502" "68910502" "subst" "0" "00039" "RPE65_000005" "g.68910502C>G" "" "{PMID:Abu-Safieh-2013:23105016}" "BanI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444819C>G" "" "pathogenic (recessive)" "" "0000060426" "3" "99" "1" "68895602" "68895603" "del" "0" "00039" "RPE65_000006" "g.68895602_68895603del" "" "{PMID:Abu-Safieh-2013:23105016}" "BspCNI-" "" "" "Germline" "yes" "" "0" "" "" "g.68429919_68429920del" "" "pathogenic (recessive)" "" "0000060428" "10" "70" "1" "68905323" "68905323" "subst" "0" "00239" "RPE65_000007" "g.68905323T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68439640T>A" "" "likely pathogenic (recessive)" "" "0000060429" "20" "70" "1" "68905323" "68905323" "subst" "0" "00239" "RPE65_000007" "g.68905323T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68439640T>A" "" "likely pathogenic (recessive)" "" "0000060430" "10" "70" "1" "68895547" "68895547" "subst" "0" "00243" "RPE65_000012" "g.68895547A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68429864A>C" "" "likely pathogenic (recessive)" "" "0000060431" "20" "70" "1" "68895547" "68895547" "subst" "0" "00243" "RPE65_000012" "g.68895547A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68429864A>C" "" "likely pathogenic (recessive)" "" "0000060432" "3" "70" "1" "68914354" "68914357" "del" "0" "00243" "RPE65_000009" "g.68914354_68914357del" "" "" "" "46_49delTTTG" "" "Germline" "" "" "0" "" "" "g.68448671_68448674del" "" "likely pathogenic (recessive)" "" "0000081809" "0" "55" "1" "68915592" "68915592" "subst" "0" "01424" "RPE65_000137" "g.68915592C>T" "1/100 cases" "{PMID:Dharmaraj 2000:11035546}" "-" "IVS1(-4) G>A" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68449909C>T" "" "VUS" "" "0000081810" "11" "99" "1" "68896964" "68897060" "del" "0" "01424" "RPE65_000000" "g.(68896860_68896964)_(68897060_68897153)del" "" "{PMID:Philpa 2009:19431183}" "HinfI-;Hpy188III-;LpnPI (2)-;MluCI-;NdeI-;TfiI-;XcmI-" "Ex 12 del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000081811" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "LpnPI +;BsiWI-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081812" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "LpnPI +;BsiWI-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081813" "3" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081814" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081815" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081816" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "1/91 cases" "{PMID:Coppieters 2010:20683928}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081817" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Weleber 2011:20811047}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081818" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081819" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081820" "3" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081821" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2008:18539930}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081822" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2008:18539930}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081823" "3" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2005:15837919}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081824" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Morimura 1998:9501220}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081825" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Morimura 1998:9501220}" "-" "GCC to ACC" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081826" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Morimura 1998:9501220}" "-" "GCC to ACC" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081827" "3" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Morimura 1998:9501220}" "-" "GCC to ACC" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081828" "21" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Morimura 1998:9501220}" "-" "GCC to ACC" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081829" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Wang 2013:23847139}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081830" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081831" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081832" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081833" "0" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081834" "3" "77" "1" "68903976" "68903976" "subst" "0" "01424" "RPE65_000015" "g.68903976A>G" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "" "0000081835" "0" "99" "1" "68903970" "68903970" "subst" "0" "01424" "RPE65_000103" "g.68903970A>T" "" "{PMID:Jacobson 2005:15837919}" "MseI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438287A>T" "" "pathogenic (recessive)" "" "0000081836" "0" "99" "1" "68903939" "68903939" "dup" "0" "01424" "RPE65_000048" "g.68903939dup" "" "{PMID:Jacobson 2012:21911650}" "HphI-" "K354ins1bp" "" "Germline" "yes" "" "0" "" "" "g.68438256dup" "" "pathogenic (recessive)" "" "0000081837" "0" "99" "1" "68903939" "68903939" "dup" "0" "01424" "RPE65_000048" "g.68903939dup" "1/87 cases" "{PMID:Li 2011:21602930}, {PMID:Li 2029:31273949}" "HphI-" "" "not in 96 controls" "Germline" "yes" "" "0" "" "" "g.68438256dup" "" "pathogenic (recessive)" "" "0000081838" "0" "99" "1" "68903939" "68903939" "dup" "0" "01424" "RPE65_000048" "g.68903939dup" "" "{PMID:Pasadhika 2010:19959640}" "HphI-" "1059insG" "" "Germline" "yes" "" "0" "" "" "g.68438256dup" "" "pathogenic (recessive)" "" "0000081839" "0" "99" "1" "68903939" "68903939" "dup" "0" "01424" "RPE65_000048" "g.68903939dup" "" "{PMID:Pasadhika 2010:19959640}" "HphI-" "1059insG" "" "Germline" "yes" "" "0" "" "" "g.68438256dup" "" "pathogenic (recessive)" "" "0000081840" "0" "99" "1" "68903939" "68903939" "dup" "0" "01424" "RPE65_000048" "g.68903939dup" "" "{PMID:Jacobson 2008:18539930}" "HphI-" "" "" "Germline" "" "" "0" "" "" "g.68438256dup" "" "pathogenic (recessive)" "" "0000081841" "0" "99" "1" "68903939" "68903939" "dup" "0" "01424" "RPE65_000048" "g.68903939dup" "" "{PMID:Jacobson 2007:17197551}" "HphI-" "1059insG" "" "Germline" "yes" "" "0" "" "" "g.68438256dup" "" "pathogenic (recessive)" "" "0000081842" "0" "99" "1" "68903939" "68903939" "dup" "0" "01424" "RPE65_000048" "g.68903939dup" "" "{PMID:Jacobson 2007:17848510}" "" "1059_1050ins1bp" "" "Germline" "" "" "0" "" "" "g.68438256dup" "" "pathogenic (recessive)" "" "0000081843" "3" "99" "1" "68912525" "68912533" "del" "0" "01424" "RPE65_000114" "g.68912525_68912533del" "" "{PMID:Sitorus 2003:14611946}" "HphI-;MnlI-" "(106del9bp)" "" "Germline" "yes" "" "0" "" "" "g.68446842_68446850del" "" "pathogenic (recessive)" "" "0000081844" "21" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Hamel 2001:11264131}, {PMID:Lorenz 2004:15288992}" "-" "1121delA" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081845" "21" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Hamel 2001:11264131}, {PMID:Lorenz 2004:15288992}" "-" "1121delA" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081846" "3" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Singh 2009:19339744}" "-" "1060delA" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081847" "3" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Singh 2009:19339744}" "-" "1060delA" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081848" "0" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Hanein 2004:15024725}" "-" "p.Lys354fsX372" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081849" "21" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Perrault 1999:10090910}" "-" "1114DelA" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081850" "21" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Perrault 1999:10090910}" "-" "1114delA" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081851" "21" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Marlhens 1997:9326927}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081852" "21" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Marlhens 1997:9326927}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081853" "1" "77" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Thompson 2000:11095629}" "MluCI+" "1114delA" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438255del" "" "likely pathogenic (recessive)" "" "0000081854" "11" "99" "1" "68903938" "68903938" "del" "0" "01424" "RPE65_000040" "g.68903938del" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "MluCI+" "1114delA" "" "Germline" "yes" "" "0" "" "" "g.68438255del" "" "pathogenic (recessive)" "" "0000081855" "0" "99" "1" "68903938" "68903938" "dup" "0" "01424" "RPE65_000044" "g.68903938dup" "1/46 chromosomes" "{PMID:Khan 2014:24997176}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000081856" "0" "99" "1" "68903938" "68903938" "dup" "0" "01424" "RPE65_000044" "g.68903938dup" "" "{PMID:Jacobson 2012:21911650}" "-" "V353ins1bp" "DNA change not mentioned" "Germline" "yes" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000081857" "0" "99" "1" "68903938" "68903938" "dup" "0" "01424" "RPE65_000044" "g.68903938dup" "2/110 cases" "{PMID:Galvin 2005:16205573}" "-" "1 bp ins 354-56" "" "Germline" "yes" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000081858" "0" "99" "1" "68903938" "68903938" "dup" "0" "01424" "RPE65_000044" "g.68903938dup" "2/110 cases" "{PMID:Galvin 2005:16205573}" "-" "1 bp ins 354-56" "" "Germline" "yes" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000081859" "0" "99" "1" "68903938" "68903938" "dup" "0" "01424" "RPE65_000044" "g.68903938dup" "" "{PMID:Jacobson 2009:19117922}" "-" "1059_1060ins1bp" "" "Germline" "" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000081860" "0" "99" "1" "68903938" "68903938" "dup" "0" "01424" "RPE65_000044" "g.68903938dup" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000081861" "0" "99" "1" "68903938" "68903938" "dup" "0" "01424" "RPE65_000044" "g.68903938dup" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000081862" "0" "99" "1" "68903928" "68903929" "ins" "0" "01424" "RPE65_000037" "g.68903928_68903929insA" "" "{PMID:Lotery 2000:10766140}" "Hpy188III+;BglI-;MwoI-" "1-bp Ins (t) codon 357" "" "Germline" "yes" "" "0" "" "" "g.68438245_68438246insA" "" "pathogenic (recessive)" "" "0000081863" "0" "99" "1" "68903928" "68903929" "ins" "0" "01424" "RPE65_000037" "g.68903928_68903929insA" "" "{PMID:Lotery 2000:10766140}" "Hpy188III+;BglI-;MwoI-" "1-bp Ins (t) codon 357" "" "Germline" "yes" "" "0" "" "" "g.68438245_68438246insA" "" "pathogenic (recessive)" "" "0000081864" "21" "77" "1" "68903920" "68903920" "subst" "0" "01424" "RPE65_000034" "g.68903920C>G" "" "{PMID:Philpa 2009:19431183}" "MnlI+;BglI-;MwoI-;NlaIV-" "" "" "Germline" "yes" "" "0" "" "" "g.68438237C>G" "" "likely pathogenic (recessive)" "" "0000081865" "3" "77" "1" "68903920" "68903920" "subst" "0" "01424" "RPE65_000034" "g.68903920C>G" "" "{PMID:Wang 2014:25097241}" "MnlI+" "" "" "Germline" "" "" "0" "" "" "g.68438237C>G" "" "likely pathogenic (recessive)" "" "0000081866" "3" "99" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Chen 2006:16828753}" "-" "" "" "Unknown" "yes" "" "0" "" "" "g.68438228G>T" "" "pathogenic (recessive)" "" "0000081867" "3" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Thompson 2000:11095629}" "BspMI-" "1141C->A" "" "Germline" "yes" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081868" "11" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Perrault 1999:10090910}" "-" "C1141A" "" "Germline" "yes" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081869" "3" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Gu 1997:9326941}" "BspMI-" "1141C->A" "" "Germline" "yes" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081870" "3" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Gu 1997:9326941}" "BspMI-" "1141C->A" "" "Germline" "yes" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081871" "3" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Gu 1997:9326941}" "BspMI-" "1141C->A" "" "Germline" "yes" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081872" "3" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Gu 1997:9326941}" "BspMI-" "1141C->A" "" "Germline" "yes" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081873" "3" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Henderson 2007:18055820}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081874" "0" "77" "1" "68903911" "68903911" "subst" "1.62541E-5" "01424" "RPE65_000099" "g.68903911G>T" "" "{PMID:Hanein 2004:15024725}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic (recessive)" "" "0000081875" "3" "99" "1" "68915577" "68915577" "subst" "0" "01424" "RPE65_000135" "g.68915577C>A" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449894C>A" "" "pathogenic (recessive)" "" "0000081876" "0" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "2/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081877" "0" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "2/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081878" "0" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081879" "11" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "2/8 chromosomes" "{PMID:Schatz 2011:21211845}" "?" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081880" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "2/91 cases" "{PMID:Coppieters 2010:20683928}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081881" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "2/91 cases" "{PMID:Coppieters 2010:20683928}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081882" "3" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Pasadhika 2010:19959640}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081883" "3" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Pasadhika 2010:19959640}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081884" "3" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "2/110 cases" "{PMID:Galvin 2005:16205573}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081885" "3" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "2/110 cases" "{PMID:Galvin 2005:16205573}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081886" "11" "99" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2002:11727200}" "-" "" "no second chromosome; uniparental isodisomy" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "" "0000081887" "11" "99" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2002:11727200}" "-" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "" "0000081888" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Weleber 2011:20811047}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081889" "0" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081890" "3" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081891" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Booij 2005:16272259}" "?" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081892" "3" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Jacobson 2005:15837919}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081893" "3" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Hanein 2004:15024725}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081894" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Yzer 2003:12960219}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081895" "11" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Felius 2002:11786058}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081896" "11" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Felius 2002:11786058}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081897" "3" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Simovich 2001:11462243}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081898" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2000:11095629}" "-" "IVS1+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081899" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2000:11095629}" "-" "IVS1+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081900" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2000:11095629}" "-" "IVS1+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081901" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2000:11095629}" "-" "IVS1+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081902" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2000:11095629}" "-" "IVS1+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081903" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Thompson 2000:11095629}" "-" "IVS1+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081904" "11" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "-" "IVS1+5G->A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081905" "21" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "-" "IVS1+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081906" "3" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Lotery 2000:10766140}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081907" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Lotery 2000:10766140}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081908" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Lotery 2000:10766140}" "-" "65 + 5g>a" "" "Unknown" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081909" "3" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Perrault 1999:10090910}" "-" "65+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081910" "3" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Perrault 1999:10090910}" "-" "65+5G>A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081911" "3" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Gu 1997:9326941}" "-" "65+5G->A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081912" "11" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Gu 1997:9326941}" "-" "65+5G->A" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081913" "0" "77" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Henderson 2007:18055820}" "" "12+4G>A, SPLICE" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic (recessive)" "" "0000081914" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Henderson 2007:18055820}" "" "12+4G>A, SPLICE" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081915" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081916" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081917" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081918" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081919" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081920" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081921" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081922" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081923" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081924" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081925" "0" "55" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000081926" "0" "99" "1" "68915573" "68915573" "subst" "8.12466E-5" "01424" "RPE65_000058" "g.68915573C>T" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "" "0000081927" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "7/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081928" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "7/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081929" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "7/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081930" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "7/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081931" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2012:21911650}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081932" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2012:21911650}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081933" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "1/3 cases" "{PMID:Hauswirth 2008:18774912}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081934" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Sundaresan 2009:19753312}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081935" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Sundaresan 2009:19753312}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081936" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2009:19117922}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081937" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2009:19117922}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081938" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2009:19117922}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081939" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Booij 2005:16272259}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081940" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Booij 2005:16272259}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081941" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2005:15837919}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081942" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2005:15837919}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081943" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081944" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081945" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081946" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081947" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081948" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081949" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081950" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081951" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081952" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081953" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081954" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081955" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081956" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Yzer 2003:12960219}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081957" "21" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Felius 2002:11786058}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T->C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081958" "21" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Felius 2002:11786058}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T->C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081959" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Thompson 2000:11095629}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T->C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081960" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Thompson 2000:11095629}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T->C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081961" "21" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081962" "21" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+" "1156T>C" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081963" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Henderson 2007:18055820}" "BsmAI+" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081964" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Henderson 2007:18055820}" "BsmAI+" "" "" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081966" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Stone 2007:17964524}" "NspI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081967" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Stone 2007:17964524}" "NspI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081968" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Stone 2007:17964524}" "NspI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081969" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Stone 2007:17964524}" "NspI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081970" "3" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2007:17848510}" "NspI+" "" "" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081971" "0" "77" "1" "68903896" "68903896" "subst" "6.90793E-5" "01424" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jacobson 2007:17848510}" "NspI+" "" "" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000081972" "0" "77" "1" "68903895" "68903895" "subst" "0" "01424" "RPE65_000138" "g.68903895T>C" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "Hpy166II+" "" "" "Germline" "yes" "" "0" "" "" "g.68438212T>C" "" "likely pathogenic (recessive)" "" "0000081973" "0" "77" "1" "68903895" "68903895" "subst" "0" "01424" "RPE65_000138" "g.68903895T>C" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "Hpy166II+" "" "" "Germline" "yes" "" "0" "" "" "g.68438212T>C" "" "likely pathogenic (recessive)" "" "0000081974" "11" "77" "1" "68903895" "68903895" "subst" "0" "01424" "RPE65_000138" "g.68903895T>C" "1/100" "{PMID:Xu 2012:22509104}" "Hpy166II+" "" "" "Germline" "yes" "" "0" "" "" "g.68438212T>C" "" "likely pathogenic (recessive)" "" "0000081975" "11" "77" "1" "68903895" "68903895" "subst" "0" "01424" "RPE65_000138" "g.68903895T>C" "1/100" "{PMID:Xu 2012:22509104}" "Hpy166II+" "" "" "Germline" "yes" "" "0" "" "" "g.68438212T>C" "" "likely pathogenic (recessive)" "" "0000081976" "0" "77" "1" "68897219" "68897219" "subst" "0" "01424" "RPE65_000111" "g.68897219G>T" "" "{PMID:Pasadhika 2010:19959640}" "ApoI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431536G>T" "" "likely pathogenic (recessive)" "" "0000081977" "0" "77" "1" "68897219" "68897219" "subst" "0" "01424" "RPE65_000111" "g.68897219G>T" "" "{PMID:Pasadhika 2010:19959640}" "ApoI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431536G>T" "" "likely pathogenic (recessive)" "" "0000081978" "0" "77" "1" "68897219" "68897219" "subst" "0" "01424" "RPE65_000111" "g.68897219G>T" "2/110 cases" "{PMID:Galvin 2005:16205573}" "ApoI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431536G>T" "" "likely pathogenic (recessive)" "" "0000081979" "0" "77" "1" "68897219" "68897219" "subst" "0" "01424" "RPE65_000111" "g.68897219G>T" "2/110 cases" "{PMID:Galvin 2005:16205573}" "ApoI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431536G>T" "" "likely pathogenic (recessive)" "" "0000081980" "0" "77" "1" "68897219" "68897219" "subst" "0" "01424" "RPE65_000111" "g.68897219G>T" "" "{PMID:Lotery 2000:10766140}" "ApoI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431536G>T" "" "likely pathogenic (recessive)" "" "0000081981" "0" "77" "1" "68897219" "68897219" "subst" "0" "01424" "RPE65_000111" "g.68897219G>T" "" "{PMID:Lotery 2000:10766140}" "ApoI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431536G>T" "" "likely pathogenic (recessive)" "" "0000081982" "0" "77" "1" "68897219" "68897219" "subst" "0" "01424" "RPE65_000111" "g.68897219G>T" "" "{PMID:Stone 2007:17964524}" "ApoI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431536G>T" "" "likely pathogenic (recessive)" "" "0000081983" "3" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "2/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081984" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Jacobson 2012:21911650}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081985" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Pasadhika 2010:19959640}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081986" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "2/110 cases" "{PMID:Galvin 2005:16205573}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081987" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "2/110 cases" "{PMID:Galvin 2005:16205573}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081988" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Philpa 2009:19431183}" "BsrFI-;HpaII-;MspI-" "" "not in 400 controls; unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081989" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Jacobson 2009:19117922}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081990" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Jacobson 2009:19117922}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081991" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Jacobson 2009:19117922}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081992" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Jacobson 2008:18539930}" "MspI-" "" "" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081993" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Jacobson 2007:17197551}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081994" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Simovich 2001:11462243}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081995" "11" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Morimura 1998:9501220}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081996" "11" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Morimura 1998:9501220}" "BsrFI-;HpaII-;MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081997" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Henderson 2007:18055820}" "BsrFI-;HpaII-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081998" "3" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Oishi 2014:25324289}" "MspI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000081999" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Stone 2007:17964524}" "MspI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000082000" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Stone 2007:17964524}" "MspI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000082001" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Stone 2007:17964524}" "MspI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000082002" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Stone 2007:17964524}" "MspI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000082003" "0" "77" "1" "68912520" "68912520" "subst" "2.03049E-5" "01424" "RPE65_000049" "g.68912520C>T" "" "{PMID:Jacobson 2007:17848510}" "MspI-" "" "" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic (recessive)" "" "0000082004" "0" "99" "1" "68914391" "68914391" "subst" "0" "01424" "RPE65_000134" "g.68914391T>C" "1/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68448708T>C" "" "pathogenic (recessive)" "" "0000082005" "0" "99" "1" "68897192" "68897192" "subst" "1.62916E-5" "01424" "RPE65_000109" "g.68897192C>T" "" "{PMID:Stone 2007:17964524}" "AluI+;BfaI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431509C>T" "" "pathogenic (recessive)" "" "0000082006" "0" "99" "1" "68897192" "68897192" "subst" "1.62916E-5" "01424" "RPE65_000109" "g.68897192C>T" "" "{PMID:Wang 2013:23847139}" "AluI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431509C>T" "" "pathogenic (recessive)" "" "0000082007" "0" "99" "1" "68897191" "68897194" "dup" "0" "01424" "RPE65_000107" "g.68897191_68897194dup" "" "{PMID:Morimura 1998:9501220}" "Cac8I+" "GAG to GCTGGAG" "" "Germline" "yes" "" "0" "" "" "g.68431508_68431511dup" "" "pathogenic (recessive)" "" "0000082008" "0" "99" "1" "68897191" "68897194" "dup" "0" "01424" "RPE65_000107" "g.68897191_68897194dup" "" "{PMID:Morimura 1998:9501220}" "Cac8I+" "GAG to GCTGGAG" "" "Germline" "yes" "" "0" "" "" "g.68431508_68431511dup" "" "pathogenic (recessive)" "" "0000082009" "0" "99" "1" "68897191" "68897194" "dup" "0" "01424" "RPE65_000107" "g.68897191_68897194dup" "" "{PMID:Morimura 1998:9501220}" "Cac8I+" "GAG to GCTGGAG" "" "Germline" "yes" "" "0" "" "" "g.68431508_68431511dup" "" "pathogenic (recessive)" "" "0000082010" "11" "99" "1" "68897191" "68897194" "dup" "0" "01424" "RPE65_000107" "g.68897191_68897194dup" "" "{PMID:Morimura 1998:9501220}" "Cac8I+" "GAG to GCTGGAG" "" "Germline" "yes" "" "0" "" "" "g.68431508_68431511dup" "" "pathogenic (recessive)" "" "0000082011" "0" "55" "1" "68897177" "68897177" "subst" "8.14346E-6" "01424" "RPE65_000106" "g.68897177A>G" "" "{PMID:Morimura 1998:9501220}" "AluI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431494A>G" "" "VUS" "" "0000082012" "3" "77" "1" "68897174" "68897174" "subst" "0" "01424" "RPE65_000102" "g.68897174A>G" "" "{PMID:Philpa 2009:19431183}" "BslI+" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68431491A>G" "" "likely pathogenic (recessive)" "" "0000082013" "3" "77" "1" "68897174" "68897174" "subst" "0" "01424" "RPE65_000102" "g.68897174A>G" "" "{PMID:Jacobson 2009:19117922}" "BslI+" "" "" "Germline" "" "" "0" "" "" "g.68431491A>G" "" "likely pathogenic (recessive)" "" "0000082014" "3" "77" "1" "68897174" "68897174" "subst" "0" "01424" "RPE65_000102" "g.68897174A>G" "" "{PMID:Jacobson 2008:18539930}" "BslI+" "" "" "Germline" "" "" "0" "" "" "g.68431491A>G" "" "likely pathogenic (recessive)" "" "0000082015" "0" "77" "1" "68897174" "68897174" "subst" "0" "01424" "RPE65_000102" "g.68897174A>G" "" "{PMID:Stone 2007:17964524}" "BslI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431491A>G" "" "likely pathogenic (recessive)" "" "0000082016" "0" "77" "1" "68897174" "68897174" "subst" "0" "01424" "RPE65_000102" "g.68897174A>G" "" "{PMID:Stone 2007:17964524}" "BslI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431491A>G" "" "likely pathogenic (recessive)" "" "0000082017" "3" "77" "1" "68897174" "68897174" "subst" "0" "01424" "RPE65_000102" "g.68897174A>G" "" "{PMID:Jacobson 2007:17848510}" "BslI+" "" "" "Germline" "" "" "0" "" "" "g.68431491A>G" "" "likely pathogenic (recessive)" "" "0000082018" "21" "99" "1" "68897152" "68897152" "subst" "0" "01424" "RPE65_000101" "g.68897152A>T" "2/6 chromosomes" "{PMID:Mo 2014:25383945}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431469A>T" "" "pathogenic (recessive)" "" "0000082019" "3" "77" "1" "68897054" "68897054" "subst" "4.07246E-6" "01424" "RPE65_000100" "g.68897054C>G" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431371C>G" "" "likely pathogenic (recessive)" "" "0000082020" "3" "77" "1" "68897054" "68897054" "subst" "4.07246E-6" "01424" "RPE65_000100" "g.68897054C>G" "1/3 cases" "{PMID:Hauswirth 2008:18774912}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431371C>G" "" "likely pathogenic (recessive)" "" "0000082021" "3" "77" "1" "68897054" "68897054" "subst" "4.07246E-6" "01424" "RPE65_000100" "g.68897054C>G" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68431371C>G" "" "likely pathogenic (recessive)" "" "0000082022" "3" "77" "1" "68897054" "68897054" "subst" "4.07246E-6" "01424" "RPE65_000100" "g.68897054C>G" "" "{PMID:Jacobson 2005:15837919}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431371C>G" "" "likely pathogenic (recessive)" "" "0000082023" "3" "77" "1" "68897054" "68897054" "subst" "4.07246E-6" "01424" "RPE65_000100" "g.68897054C>G" "" "{PMID:Simovich 2001:11462243}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431371C>G" "" "likely pathogenic (recessive)" "" "0000082024" "3" "77" "1" "68897054" "68897054" "subst" "4.07246E-6" "01424" "RPE65_000100" "g.68897054C>G" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68431371C>G" "" "likely pathogenic (recessive)" "" "0000082025" "0" "77" "1" "68897011" "68897011" "subst" "4.071E-6" "01424" "RPE65_000090" "g.68897011T>C" "" "{PMID:Jacobson 2009:19117922}" "HpyCH4V+" "" "" "Germline" "" "" "0" "" "" "g.68431328T>C" "" "likely pathogenic (recessive)" "" "0000082026" "0" "77" "1" "68897011" "68897011" "subst" "4.071E-6" "01424" "RPE65_000090" "g.68897011T>C" "" "{PMID:Jacobson 2005:15837919}" "HpyCH4V+" "1346A>G" "" "Germline" "yes" "" "0" "" "" "g.68431328T>C" "" "likely pathogenic (recessive)" "" "0000082027" "0" "77" "1" "68897011" "68897011" "subst" "4.071E-6" "01424" "RPE65_000090" "g.68897011T>C" "" "{PMID:Al-Khayer 2004:14962443}" "HpyCH4V+" "1346A>G" "" "Germline" "yes" "" "0" "" "" "g.68431328T>C" "" "likely pathogenic (recessive)" "" "0000082028" "0" "77" "1" "68897011" "68897011" "subst" "4.071E-6" "01424" "RPE65_000090" "g.68897011T>C" "" "{PMID:Stone 2007:17964524}" "HpyCH4V+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431328T>C" "" "likely pathogenic (recessive)" "" "0000082029" "0" "77" "1" "68897011" "68897011" "subst" "4.071E-6" "01424" "RPE65_000090" "g.68897011T>C" "" "{PMID:Jacobson 2007:17848510}" "HpyCH4V+" "" "" "Germline" "" "" "0" "" "" "g.68431328T>C" "" "likely pathogenic (recessive)" "" "0000082030" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Philpa 2009:19431183}" "AleI+;MslI+" "" "not pathogenic, not in 400 controls; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082031" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Philpa 2009:19431183}" "AleI+;MslI+" "" "not pathogenic, not in 400 controls; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082032" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Philpa 2009:19431183}" "AleI+;MslI+" "" "not pathogenic; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082033" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Bereta 2008:18722466}" "AleI+;MslI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082034" "0" "33" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Hanein 2004:15024725}" "AleI+;MslI+" "" "unlikely pathogenic; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "likely benign" "" "0000082035" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Lotery 2000:10766140}" "AleI+;MslI+" "" "unlikely pathogenic; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082036" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Lotery 2000:10766140}" "AleI+;MslI+" "" "unlikely pathogenic; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082037" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Lotery 2000:10766140}" "AleI+;MslI+" "" "unlikely pathogenic; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082038" "11" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Perrault 1999:10090910}" "AleI+;MslI+" "C1355T" "classification updated, unlikely pathogenic; unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.68431319G>A" "" "likely benign (!)" "" "0000082039" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Morimura 1998:9501220}" "AleI+;MslI+" "" "unlikely pathogenic; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082040" "0" "11" "1" "68897002" "68897002" "subst" "0.00562296" "01424" "RPE65_000089" "g.68897002G>A" "" "{PMID:Henderson 2007:18055820}" "AleI+;MslI+" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68431319G>A" "" "benign" "" "0000082041" "0" "77" "1" "68896999" "68896999" "subst" "0" "01424" "RPE65_000088" "g.68896999T>C" "" "{PMID:Sitorus 2003:14611946}" "Hpy166II+;MslI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431316T>C" "" "likely pathogenic (recessive)" "" "0000082042" "0" "77" "1" "68896996" "68896996" "subst" "0" "01424" "RPE65_000087" "g.68896996C>A" "" "{PMID:Henderson 2007:18055820}" "CviQI+;RsaI+" "1307A>T" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431313C>A" "" "likely pathogenic (recessive)" "" "0000082043" "0" "77" "1" "68896996" "68896996" "subst" "0" "01424" "RPE65_000087" "g.68896996C>A" "" "{PMID:Thompson 2000:11095629}" "CviQI+;RsaI+" "1361G->T" "" "Germline" "yes" "" "0" "" "" "g.68431313C>A" "" "likely pathogenic (recessive)" "" "0000082044" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2012:21911650}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082045" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "1/91 cases" "{PMID:Coppieters 2010:20683928}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082046" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "1/3 cases" "{PMID:Hauswirth 2008:18774912}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082047" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Philpa 2009:19431183}" "TaqI-" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082048" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Philpa 2009:19431183}" "TaqI-" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082049" "11" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Philpa 2009:19431183}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082050" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2009:19117922}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082051" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2009:19117922}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082052" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2009:19117922}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082053" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2008:18539930}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082054" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2008:18539930}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082055" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2005:15837919}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082056" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Hanein 2004:15024725}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082057" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Simovich 2001:11462243}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082058" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Stone 2007:17964524}" "TaqI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082059" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Stone 2007:17964524}" "TaqI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082060" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Stone 2007:17964524}" "TaqI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082061" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2007:17848510}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082062" "3" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2007:17848510}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082063" "0" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Jacobson 2007:17848510}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082064" "11" "77" "1" "68912507" "68912507" "subst" "4.06088E-5" "01424" "RPE65_000036" "g.68912507C>T" "" "{PMID:Philpa 2009:19431183}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic (recessive)" "" "0000082065" "0" "77" "1" "68896975" "68896975" "subst" "0" "01424" "RPE65_000086" "g.68896975A>G" "" "{PMID:Weleber 2011:20811047}" "BpmI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431292A>G" "" "likely pathogenic (recessive)" "" "0000082066" "0" "77" "1" "68896975" "68896975" "subst" "0" "01424" "RPE65_000086" "g.68896975A>G" "" "{PMID:Weleber 2011:20811047}" "BpmI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431292A>G" "" "likely pathogenic (recessive)" "" "0000082067" "0" "77" "1" "68896975" "68896975" "subst" "0" "01424" "RPE65_000086" "g.68896975A>G" "" "{PMID:Stone 2007:17964524}" "BpmI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431292A>G" "" "likely pathogenic (recessive)" "" "0000082068" "0" "99" "1" "68896967" "68896967" "dup" "0" "01424" "RPE65_000085" "g.68896967dup" "" "{PMID:Wang 2014:25097241}" "-" "1336dupA" "" "Germline" "" "" "0" "" "" "g.68431284dup" "" "pathogenic" "" "0000082069" "0" "55" "1" "68912505" "68912505" "subst" "0" "01424" "RPE65_000112" "g.68912505A>G" "" "{PMID:Oishi 2014:25324289}" "BmgBI+" "" "" "Germline" "yes" "" "0" "" "" "g.68446822A>G" "" "VUS" "" "0000082070" "21" "77" "1" "68896843" "68896843" "subst" "8.1473E-6" "01424" "RPE65_000084" "g.68896843A>C" "" "{PMID:Morimura 1998:9501220}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431160A>C" "" "likely pathogenic (recessive)" "" "0000082071" "1" "77" "1" "68896828" "68896828" "subst" "0" "01424" "RPE65_000083" "g.68896828G>T" "" "{PMID:Thompson 2000:11095629}" "MluCI+" "1424C->A" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431145G>T" "" "likely pathogenic (recessive)" "" "0000082072" "3" "11" "1" "68896828" "68896828" "subst" "0" "01424" "RPE65_000083" "g.68896828G>T" "" "{PMID:Thompson 2000:11095629}" "MluCI+" "1424C->A" "" "Germline" "yes" "" "0" "" "" "g.68431145G>T" "" "benign" "" "0000082073" "11" "99" "1" "68896828" "68896828" "subst" "0" "01424" "RPE65_000083" "g.68896828G>T" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "MluCI+" "T457N" "" "Germline" "yes" "" "0" "" "" "g.68431145G>T" "" "pathogenic (recessive)" "" "0000082074" "0" "99" "1" "68896819" "68896819" "subst" "0" "01424" "RPE65_000082" "g.68896819C>T" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68431136C>T" "" "pathogenic (recessive)" "" "0000082075" "0" "99" "1" "68896818" "68896818" "subst" "0" "01424" "RPE65_000130" "g.68896818C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68431135C>T" "" "pathogenic (recessive)" "" "0000082076" "0" "77" "1" "68896818" "68896818" "subst" "0" "01424" "RPE65_000131" "g.68896818C>G" "" "{PMID:Weleber 2011:20811047}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431135C>G" "" "likely pathogenic (recessive)" "" "0000082077" "3" "99" "1" "68896814" "68896814" "subst" "0" "01424" "RPE65_000129" "g.68896814C>A" "" "{PMID:Lotery 2000:10766140}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68431131C>A" "" "pathogenic (recessive)" "" "0000082078" "3" "99" "1" "68896814" "68896814" "subst" "0" "01424" "RPE65_000129" "g.68896814C>A" "" "{PMID:Stone 2007:17964524}" "-" "" "" "Germline" "" "" "0" "" "" "g.68431131C>A" "" "pathogenic (recessive)" "" "0000082079" "0" "99" "1" "68912502" "68912502" "del" "0" "01424" "RPE65_000047" "g.68912502del" "" "{PMID:Pasadhika 2010:19959640}" "EaeI+;MscI+;Sau96I-" "Gly46 del1tgtG" "" "Germline" "yes" "" "0" "" "" "g.68446819del" "" "pathogenic (recessive)" "" "0000082080" "0" "99" "1" "68912502" "68912502" "del" "0" "01424" "RPE65_000047" "g.68912502del" "1/110 cases" "{PMID:Galvin 2005:16205573}" "EaeI+;MscI+;Sau96I-" "1 bp del 46" "" "Germline" "yes" "" "0" "" "" "g.68446819del" "" "pathogenic (recessive)" "" "0000082081" "0" "99" "1" "68912502" "68912502" "del" "0" "01424" "RPE65_000047" "g.68912502del" "" "{PMID:Lotery 2000:10766140}" "EaeI+;MscI+;Sau96I-" "1-bp del of (g) codon 46" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446819del" "" "pathogenic (recessive)" "" "0000082082" "0" "99" "1" "68912502" "68912502" "del" "0" "01424" "RPE65_000047" "g.68912502del" "" "{PMID:Stone 2007:17964524}" "Sau96I-" "Gly46 del1, tgtG" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68446819del" "" "pathogenic (recessive)" "" "0000082083" "3" "77" "1" "68896789" "68896789" "subst" "4.07279E-6" "01424" "RPE65_000128" "g.68896789G>A" "" "{PMID:Mamatha 2008:18484312}" "-" "(C/T) at codon 470" "" "Germline" "yes" "" "0" "" "" "g.68431106G>A" "" "likely pathogenic (recessive)" "" "0000082084" "0" "77" "1" "68896780" "68896780" "subst" "0" "01424" "RPE65_000018" "g.68896780A>T" "1/110 cases" "{PMID:Galvin 2005:16205573}" "HinfI+;TfiI+" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68431097A>T" "" "likely pathogenic (recessive)" "" "0000082085" "21" "77" "1" "68896780" "68896780" "subst" "0" "01424" "RPE65_000018" "g.68896780A>T" "" "{PMID:Perrault 1999:10090910}" "HinfI+;TfiI+" "T1472A" "" "Germline" "yes" "" "0" "" "" "g.68431097A>T" "" "likely pathogenic (recessive)" "" "0000082086" "3" "77" "1" "68896780" "68896780" "subst" "0" "01424" "RPE65_000018" "g.68896780A>T" "" "{PMID:Morimura 1998:9501220}" "HinfI+;TfiI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431097A>T" "" "likely pathogenic (recessive)" "" "0000082087" "0" "77" "1" "68896780" "68896780" "subst" "0" "01424" "RPE65_000018" "g.68896780A>T" "" "{PMID:Hanein 2004:15024725}" "HinfI+;TfiI+" "" "" "Germline" "" "" "0" "" "" "g.68431097A>T" "" "likely pathogenic (recessive)" "" "0000082088" "10" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082089" "10" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082090" "10" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082091" "10" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082092" "10" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082093" "11" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082094" "11" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082095" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082096" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082097" "10" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082098" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082099" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082100" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082101" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082102" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082103" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082104" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082105" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082106" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082107" "21" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082108" "0" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082109" "11" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082110" "11" "77" "1" "68896768" "68896768" "subst" "0" "01424" "RPE65_000017" "g.68896768T>C" "" "{PMID:Bowne 2011:21654732}" "BstNI+;NlaIV+;PspGI+" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic (recessive)" "" "0000082111" "21" "99" "1" "68912493" "68912494" "ins" "0" "01424" "RPE65_000046" "g.68912493_68912494insA" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "HinfI-;MlyI-;PleI-" "Ins144T" "" "Germline" "yes" "" "0" "" "" "g.68446810_68446811insA" "" "pathogenic (recessive)" "" "0000082112" "0" "77" "1" "68895610" "68895610" "subst" "8.22132E-6" "01424" "RPE65_000124" "g.68895610C>T" "" "{PMID:Weleber 2011:20811047}" "BccI-" "" "" "Germline" "yes" "" "0" "" "" "g.68429927C>T" "" "likely pathogenic (recessive)" "" "0000082114" "0" "99" "1" "68895558" "68895562" "del" "0" "01424" "RPE65_000123" "g.68895558_68895562del" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68429875_68429879del" "" "pathogenic (recessive)" "" "0000082115" "3" "99" "1" "68895558" "68895562" "del" "0" "01424" "RPE65_000123" "g.68895558_68895562del" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68429875_68429879del" "" "pathogenic (recessive)" "" "0000082116" "3" "99" "1" "68895558" "68895562" "del" "0" "01424" "RPE65_000123" "g.68895558_68895562del" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68429875_68429879del" "" "pathogenic (recessive)" "" "0000082117" "3" "77" "1" "68895518" "68895518" "subst" "8.21052E-6" "01424" "RPE65_000121" "g.68895518G>A" "4/14 chromosomes" "{PMID:Katagiri 2014:25495949}" "BstNI+;HpaII-;MspI-;NciI-;SmaI-;;XmaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000082118" "3" "77" "1" "68895518" "68895518" "subst" "8.21052E-6" "01424" "RPE65_000121" "g.68895518G>A" "" "{PMID:Kondo 2004:15557452}" "BstNI+;HpaII-;MspI-;NciI-;SmaI-;;XmaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000082119" "3" "77" "1" "68895518" "68895518" "subst" "8.21052E-6" "01424" "RPE65_000121" "g.68895518G>A" "" "{PMID:Oishi 2014:25324289}" "BstNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000082120" "0" "77" "1" "68895518" "68895518" "subst" "8.21052E-6" "01424" "RPE65_000121" "g.68895518G>A" "" "{PMID:Oishi 2014:25324289}" "BstNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000082121" "0" "77" "1" "68895518" "68895518" "subst" "8.21052E-6" "01424" "RPE65_000121" "g.68895518G>A" "" "{PMID:Stone 2007:17964524}" "MspI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000082122" "0" "77" "1" "68895478" "68895478" "subst" "0" "01424" "RPE65_000120" "g.68895478C>A" "" "{PMID:Thompson 2000:11095629}" "RsaI+" "1637G->T" "" "Germline" "yes" "" "0" "" "" "g.68429795C>A" "" "likely pathogenic (recessive)" "" "0000082123" "0" "77" "1" "68895471" "68895471" "subst" "0" "01424" "RPE65_000118" "g.68895471G>T" "1/6 chromosomes" "{PMID:Mo 2014:25383945}" "MseI+" "" "" "De novo" "yes" "" "0" "" "" "g.68429788G>T" "" "likely pathogenic (recessive)" "" "0000082124" "0" "99" "1" "68895471" "68895471" "del" "0" "01424" "RPE65_000119" "g.68895471del" "1/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "MseI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429788del" "" "pathogenic (recessive)" "" "0000082125" "3" "99" "1" "68895471" "68895471" "del" "0" "01424" "RPE65_000119" "g.68895471del" "3/91 cases" "{PMID:Coppieters 2010:20683928}" "MseI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429788del" "" "pathogenic (recessive)" "" "0000082126" "0" "99" "1" "68895471" "68895471" "del" "0" "01424" "RPE65_000119" "g.68895471del" "3/91 cases" "{PMID:Coppieters 2010:20683928}" "MseI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429788del" "" "pathogenic (recessive)" "" "0000082127" "0" "99" "1" "68895471" "68895471" "del" "0" "01424" "RPE65_000119" "g.68895471del" "3/91 cases" "{PMID:Coppieters 2010:20683928}" "MseI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429788del" "" "pathogenic (recessive)" "" "0000082128" "0" "99" "1" "68895471" "68895471" "del" "0" "01424" "RPE65_000119" "g.68895471del" "1/58 cases" "{PMID:Yzer 2006:16505055}" "MseI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429788del" "" "pathogenic (recessive)" "" "0000082129" "0" "99" "1" "68895471" "68895471" "del" "0" "01424" "RPE65_000119" "g.68895471del" "" "{PMID:Yzer 2006:16505055}" "MseI+" "" "" "Germline" "yes" "" "0" "" "" "g.68429788del" "" "pathogenic (recessive)" "" "0000082130" "0" "77" "1" "68895464" "68895464" "subst" "1.22354E-5" "01424" "RPE65_000155" "g.68895464A>T" "" "{PMID:Stone 2007:17964524}" "Hpy188III-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68429781A>T" "" "likely pathogenic (recessive)" "" "0000082131" "0" "11" "1" "68895464" "68895464" "subst" "1.22354E-5" "01424" "RPE65_000155" "g.68895464A>T" "" "{PMID:Wang 2014:25097241}" "Hpy188III-" "" "" "Germline" "yes" "" "0" "" "" "g.68429781A>T" "" "benign" "" "0000082132" "0" "99" "1" "68914385" "68914385" "subst" "0" "01424" "RPE65_000133" "g.68914385C>A" "1/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68448702C>A" "" "pathogenic (recessive)" "" "0000082133" "0" "99" "1" "68914385" "68914385" "subst" "0" "01424" "RPE65_000133" "g.68914385C>A" "" "{PMID:Henderson 2007:18055820}" "-" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68448702C>A" "" "pathogenic (recessive)" "" "0000082134" "21" "77" "1" "68912461" "68912461" "subst" "0" "01424" "RPE65_000045" "g.68912461G>C" "2/14 chromosomes" "{PMID:Katagiri 2014:25495949}" "AluI+;MspA1I+;PvuII+" "" "" "Germline" "yes" "" "0" "" "" "g.68446778G>C" "" "likely pathogenic (recessive)" "" "0000082135" "3" "77" "1" "68912459" "68912459" "subst" "4.06108E-6" "01424" "RPE65_000043" "g.68912459A>G" "9/440 chromosomes" "{PMID:Kabir 2013:23878505}" "BslI+;LpnPI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446776A>G" "" "likely pathogenic (recessive)" "" "0000082136" "3" "77" "1" "68912459" "68912459" "subst" "4.06108E-6" "01424" "RPE65_000043" "g.68912459A>G" "9/440 chromosomes" "{PMID:Kabir 2013:23878505}" "BslI+;LpnPI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446776A>G" "" "likely pathogenic (recessive)" "" "0000082137" "3" "77" "1" "68912459" "68912459" "subst" "4.06108E-6" "01424" "RPE65_000043" "g.68912459A>G" "9/440 chromosomes" "{PMID:Kabir 2013:23878505}" "BslI+;LpnPI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446776A>G" "" "likely pathogenic (recessive)" "" "0000082138" "3" "77" "1" "68912459" "68912459" "subst" "4.06108E-6" "01424" "RPE65_000043" "g.68912459A>G" "9/440 chromosomes" "{PMID:Kabir 2013:23878505}" "BslI+;LpnPI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446776A>G" "" "likely pathogenic (recessive)" "" "0000082139" "3" "77" "1" "68912459" "68912459" "subst" "4.06108E-6" "01424" "RPE65_000043" "g.68912459A>G" "" "{PMID:Henderson 2007:18055820}" "BslI+;LpnPI-" "" "" "Germline" "yes" "" "0" "" "" "g.68446776A>G" "" "likely pathogenic (recessive)" "" "0000082140" "11" "99" "1" "68912457" "68912457" "dup" "0" "01424" "RPE65_000042" "g.68912457dup" "3/14 chromosomes" "{PMID:Katagiri 2014:25495949}" "CspCI+;XcmI-" "183_184insT" "" "Germline" "yes" "" "0" "" "" "g.68446774dup" "" "pathogenic (recessive)" "" "0000082141" "3" "77" "1" "68912448" "68912448" "subst" "0" "01424" "RPE65_000041" "g.68912448G>A" "" "{PMID:Perrault 1999:10090910}" "Cac8I-" "244C>T" "" "Germline" "yes" "" "0" "" "" "g.68446765G>A" "" "likely pathogenic (recessive)" "" "0000082142" "3" "99" "1" "68912448" "68912448" "subst" "0" "01424" "RPE65_000041" "g.68912448G>A" "" "{PMID:Hanein 2004:15024725}" "Cac8I-" "" "" "Germline" "" "" "0" "" "" "g.68446765G>A" "" "pathogenic (recessive)" "" "0000082143" "0" "77" "1" "68912438" "68912438" "subst" "4.06111E-6" "01424" "RPE65_000039" "g.68912438A>C" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "HpaII+;MspI+;BsgI-;HpyCH4V-" "" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic (recessive)" "" "0000082144" "0" "77" "1" "68912438" "68912438" "subst" "4.06111E-6" "01424" "RPE65_000039" "g.68912438A>C" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "HpaII+;MspI+;BsgI-;HpyCH4V-" "" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic (recessive)" "" "0000082145" "21" "77" "1" "68912438" "68912438" "subst" "4.06111E-6" "01424" "RPE65_000039" "g.68912438A>C" "" "{PMID:Chen 2013:23661368}, {PMID:Li 2029:31273949}, {PMID:Li 2020:31572124}" "HpaII+;MspI+;BsgI-;HpyCH4V-" "" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic (recessive)" "" "0000082146" "21" "77" "1" "68912438" "68912438" "subst" "4.06111E-6" "01424" "RPE65_000039" "g.68912438A>C" "1/100" "{PMID:Xu 2012:22509104}" "HpaII+;MspI+;BsgI-;HpyCH4V-" "" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic (recessive)" "" "0000082147" "21" "77" "1" "68912438" "68912438" "subst" "4.06111E-6" "01424" "RPE65_000039" "g.68912438A>C" "1/100" "{PMID:Xu 2012:22509104}" "HpaII+;MspI+;BsgI-;HpyCH4V-" "" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic (recessive)" "" "0000082148" "21" "77" "1" "68912438" "68912438" "subst" "4.06111E-6" "01424" "RPE65_000039" "g.68912438A>C" "" "{PMID:Fu 2013:23661369}" "HpaII+" "" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic (recessive)" "" "0000082149" "21" "77" "1" "68912438" "68912438" "subst" "4.06111E-6" "01424" "RPE65_000039" "g.68912438A>C" "" "{PMID:Fu 2013:23661369}" "HpaII+" "" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic (recessive)" "" "0000082150" "21" "77" "1" "68912436" "68912437" "delins" "0" "01424" "RPE65_000038" "g.68912436_68912437delinsAA" "1/184" "{PMID:Marlhens 1998:9801879}, {PMID:Hamel 2001:11264131}" "BsgI-;HpyCH4V-" "255 and 256 G to T and C to T" "" "Germline" "yes" "" "0" "" "" "g.68446753_68446754delinsAA" "" "likely pathogenic (recessive)" "" "0000082151" "0" "77" "1" "68912430" "68912430" "subst" "0" "01424" "RPE65_000002" "g.68912430A>C" "" "{PMID:Simonelli 2007:17724218}" "BslI+;EcoNI+;HincII+;Hpy166II+" "" "" "Germline" "yes" "" "0" "" "" "g.68446747A>C" "" "likely pathogenic (recessive)" "" "0000082153" "3" "99" "1" "68912421" "68912421" "dup" "0" "01424" "RPE65_000035" "g.68912421dup" "" "{PMID:Lorenz 2004:15288992}" "-" "271insA" "" "Germline" "yes" "" "0" "" "" "g.68446738dup" "" "pathogenic (recessive)" "" "0000082154" "3" "99" "1" "68912421" "68912421" "dup" "0" "01424" "RPE65_000035" "g.68912421dup" "" "{PMID:Lorenz 2004:15288992}" "-" "271insA" "" "Germline" "yes" "" "0" "" "" "g.68446738dup" "" "pathogenic (recessive)" "" "0000082155" "3" "99" "1" "68912421" "68912421" "dup" "0" "01424" "RPE65_000035" "g.68912421dup" "" "{PMID:Lorenz 2004:15288992}" "-" "271insA" "" "Germline" "yes" "" "0" "" "" "g.68446738dup" "" "pathogenic (recessive)" "" "0000082156" "0" "77" "1" "68912403" "68912403" "subst" "0" "01424" "RPE65_000034" "g.68912403A>G" "" "{PMID:Thompson 2000:11095629}" "-" "289T->C" "" "Germline" "yes" "" "0" "" "" "g.68446720A>G" "" "likely pathogenic (recessive)" "" "0000082157" "3" "77" "1" "68910563" "68910563" "subst" "0" "01424" "RPE65_000033" "g.68910563G>C" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "DpnI+;DpnII+;MboI+;BtsCI-;FokI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444880G>C" "" "likely pathogenic (recessive)" "" "0000082158" "0" "77" "1" "68910559" "68910559" "subst" "8.54353E-5" "01424" "RPE65_000154" "g.68910559G>A" "" "{PMID:Stone 2007:17964524}" "BsgI+;HpyCH4V+;AciI-;BtsCI-;FokI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444876G>A" "" "likely pathogenic (recessive)" "" "0000082159" "0" "77" "1" "68910558" "68910558" "subst" "4.47431E-5" "01424" "RPE65_000153" "g.68910558C>T" "" "{PMID:Thompson 2000:11095629}" "MslI+" "308G->A" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444875C>T" "" "likely pathogenic (recessive)" "" "0000082160" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "2/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082161" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "4/46 chromosomes" "{PMID:Khan 2014:24997176}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082162" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "4/46 chromosomes" "{PMID:Khan 2014:24997176}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082163" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2012:21911650}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082164" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2012:21911650}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082165" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2012:21911650}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082166" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2012:21911650}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082167" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "3/117 cases" "{PMID:Li 2009:18936139}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082168" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "3/117 cases" "{PMID:Li 2009:18936139}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082169" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "3/117 cases" "{PMID:Li 2009:18936139}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082170" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "1/20 cases" "{PMID:Seong 2008:18682808}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082171" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "1/3 cases" "{PMID:Hauswirth 2008:18774912}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082172" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "1/110 cases" "{PMID:Galvin 2005:16205573}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082173" "21" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Philpa 2009:19431183}" "BsiWI-;CviQI-;RsaI-" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082174" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2009:19117922}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082175" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2009:19117922}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082176" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2009:19117922}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082177" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2009:19117922}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082178" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2009:19117922}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082179" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Bereta 2008:18722466}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082180" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Bereta 2008:18722466}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082181" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Bereta 2008:18722466}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082182" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2008:18539930}" "BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082183" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2008:18539930}" "BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082184" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2008:18539930}" "BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082185" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17197551}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082186" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17197551}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082187" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082188" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082189" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082190" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082191" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082192" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082193" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082194" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082195" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082196" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:El Matri 2006:16518657}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082197" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2005:15837919}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082198" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Thompson 2000:11095629}" "BsiWI-;CviQI-;RsaI-" "325C->T" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082199" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Thompson 2000:11095629}" "BsiWI-;CviQI-;RsaI-" "325C->T" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082200" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Thompson 2000:11095629}" "BsiWI-;CviQI-;RsaI-" "325C->T" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082201" "11" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "BsiWI-;CviQI-;RsaI-" "325C>T" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082202" "11" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Lorenz 2000:10937591}, {PMID:Lorenz 2004:1528892}" "BsiWI-;CviQI-;RsaI-" "325C>T" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082203" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Lotery 2000:10766140}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082204" "11" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Morimura 1998:9501220}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082205" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Morimura 1998:9501220}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082206" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Morimura 1998:9501220}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082207" "10" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Morimura 1998:9501220}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082208" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Eisenberger 2013:24265693}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "yes" "rs61752871" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082210" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082211" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082212" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082213" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082214" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082215" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082216" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082217" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082218" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082219" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082220" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Stone 2007:17964524}" "BsiWI-;CviQI-;RsaI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082221" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17848510}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082222" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17848510}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082223" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17848510}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082224" "3" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17848510}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082225" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17848510}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082226" "0" "77" "1" "68910541" "68910541" "subst" "5.28498E-5" "01424" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jacobson 2007:17848510}" "BsiWI-;CviQI-;RsaI-" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic (recessive)" "" "0000082227" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "LpnPI +;BsiWI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082228" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "LpnPI +;BsiWI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082229" "3" "11" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Philpa 2009:19431183}" "LpnPI+;BsiWI-" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "benign" "" "0000082230" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2009:19117922}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082231" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2009:19117922}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082232" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2009:19117922}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082233" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2009:19117922}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082234" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2008:18539930}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082235" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2007:17197551}" "LpnPI+;BsiWI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082236" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Simovich 2001:11462243}" "LpnPI+;BsiWI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082237" "0" "11" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Thompson 2000:11095629}" "SunI+" "326G->A" "" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "benign" "" "0000082238" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Stone 2007:17964524}" "LpnPI+;BsiWI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082239" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Stone 2007:17964524}" "LpnPI+;BsiWI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082240" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2007:17848510}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082241" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2007:17848510}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082242" "0" "77" "1" "68910540" "68910540" "subst" "4.06504E-5" "01424" "RPE65_000081" "g.68910540C>T" "" "{PMID:Jacobson 2007:17848510}" "LpnPI+;BsiWI-" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic (recessive)" "" "0000082243" "0" "77" "1" "68910540" "68910540" "subst" "0" "01424" "RPE65_000152" "g.68910540C>G" "" "{PMID:Simonelli 2007:17724218}" "BsrFI+;HpaII+;LpnPI+;MspI+;BsiWI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444857C>G" "" "likely pathogenic (recessive)" "" "0000082244" "3" "99" "1" "68910503" "68910523" "del" "0" "01424" "RPE65_000029" "g.68910503_68910523del" "" "{PMID:Jacobson 2007:17197551}" "ApoI-;MluCI-" "20 bp del codon 97" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444840del" "" "pathogenic (recessive)" "" "0000082245" "3" "99" "1" "68910503" "68910523" "del" "0" "01424" "RPE65_000029" "g.68910503_68910523del" "" "{PMID:Jacobson 2005:15837919}" "ApoI-;MluCI-" "97del20bp" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444840del" "" "pathogenic (recessive)" "" "0000082246" "3" "99" "1" "68910503" "68910523" "del" "0" "01424" "RPE65_000029" "g.68910503_68910523del" "" "{PMID:Lotery 2000:10766140}" "ApoI-;MluCI-" "20 bp del codon 97" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444840del" "" "pathogenic (recessive)" "" "0000082247" "3" "99" "1" "68910526" "68910526" "dup" "0" "01424" "RPE65_000080" "g.68910526dup" "" "{PMID:den Hollander 2007:18055821}" "-" "289_290dupA" "" "Germline" "yes" "" "0" "" "" "g.68444843dup" "" "pathogenic (recessive)" "" "0000082248" "0" "77" "1" "68910526" "68910526" "dup" "0" "01424" "RPE65_000080" "g.68910526dup" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444843dup" "" "likely pathogenic (recessive)" "" "0000082249" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Jacobson 2012:21911650}" "ApoI-;MluCI-" "97del20bp" "DNA change not mentioned" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082250" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Poehner 2000:11062306}" "ApoI-;MluCI-" "20 bp deletion in exon 4 nt 344 to 363" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082251" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Poehner 2000:11062306}" "ApoI-;MluCI-" "20 bp deletion in exon 4 nt 344 to 363" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082252" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Poehner 2000:11062306}" "ApoI-;MluCI-" "20 bp deletion in exon 4 nt 344 to 363" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082253" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Jacobson 2008:18539930}" "ApoI-" "97del20bp" "" "Germline" "" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082254" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Simovich 2001:11462243}" "ApoI-;MluCI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082255" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Thompson 2000:11095629}" "ApoI-;MluCI-" "344del20" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082256" "0" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Stone 2007:17964524}" "ApoI-" "Arg97 del20, aGGATCGTCATAACAGAATTT" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082257" "0" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Stone 2007:17964524}" "ApoI-" "Arg97 del20, aGGATCGTCATAACAGAATTT" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082258" "0" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Stone 2007:17964524}" "ApoI-" "Arg97 del20, aGGATCGTCATAACAGAATTT" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082259" "0" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Stone 2007:17964524}" "ApoI-" "Arg97 del20, aGGATCGTCATAACAGAATTT" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082260" "3" "99" "1" "68910503" "68910522" "del" "0" "01424" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Jacobson 2007:17848510}" "ApoI-" "" "" "Germline" "" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic (recessive)" "" "0000082261" "0" "11" "1" "68910517" "68910517" "subst" "0.000251957" "01424" "RPE65_000079" "g.68910517C>T" "4/87 cases" "{PMID:Li 2011:21602930}" "-" "" "unknown variant 2ndchromosome; not in 96 controls" "Germline" "" "" "0" "" "" "g.68444834C>T" "" "benign" "" "0000082262" "0" "11" "1" "68910517" "68910517" "subst" "0.000251957" "01424" "RPE65_000079" "g.68910517C>T" "4/87 cases" "{PMID:Li 2011:21602930}" "-" "" "reported as digenic with GUCY2D variant; unknown variant 2ndchromosome; not in 96 controls" "Germline" "" "" "0" "" "" "g.68444834C>T" "" "benign" "" "0000082263" "0" "99" "1" "68910505" "68910516" "del" "0" "01424" "RPE65_000030" "g.68910505_68910516del" "" "{PMID:Jacobson 2009:19117922}" "ApoI-;MluCI-" "297del1bp" "" "Germline" "" "" "0" "" "" "g.68444822_68444833del" "" "pathogenic (recessive)" "" "0000082264" "0" "99" "1" "68910515" "68910515" "del" "0" "01424" "RPE65_000078" "g.68910515del" "" "{PMID:Jacobson 2005:15837919}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444832del" "" "pathogenic (recessive)" "" "0000082265" "0" "55" "1" "68915587" "68915587" "subst" "0" "01424" "RPE65_000136" "g.68915587A>G" "" "{PMID:Thompson 2000:11095629}" "HpyCH4IV+" "56T->c, M1T" "" "Germline" "yes" "" "0" "" "" "g.68449904A>G" "" "VUS" "" "0000082266" "3" "55" "1" "68915587" "68915587" "subst" "0" "01424" "RPE65_000136" "g.68915587A>G" "" "{PMID:Morimura 1998:9501220}" "HpyCH4IV+" "" "" "Germline" "yes" "" "0" "" "" "g.68449904A>G" "" "VUS" "" "0000082267" "3" "55" "1" "68915587" "68915587" "subst" "0" "01424" "RPE65_000136" "g.68915587A>G" "" "{PMID:Morimura 1998:9501220}" "HpyCH4IV+" "" "" "Germline" "yes" "" "0" "" "" "g.68449904A>G" "" "VUS" "" "0000082268" "3" "77" "1" "68910510" "68910510" "subst" "4.06312E-6" "01424" "RPE65_000077" "g.68910510G>A" "" "{PMID:Philpa 2009:19431183}" "-" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68444827G>A" "" "likely pathogenic (recessive)" "" "0000082269" "0" "77" "1" "68910510" "68910510" "subst" "4.06312E-6" "01424" "RPE65_000077" "g.68910510G>A" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444827G>A" "" "likely pathogenic (recessive)" "" "0000082270" "3" "77" "1" "68910508" "68910508" "subst" "0" "01424" "RPE65_000031" "g.68910508C>T" "" "{PMID:Simonelli 2007:17724218}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>T" "" "likely pathogenic (recessive)" "" "0000082271" "20" "77" "1" "68910508" "68910508" "subst" "0" "01424" "RPE65_000031" "g.68910508C>T" "" "{PMID:Morimura 1998:9501220}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>T" "" "likely pathogenic (recessive)" "" "0000082272" "0" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Pasadhika 2010:19959640}" "ApoI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082273" "0" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "1/110 cases" "{PMID:Galvin 2005:16205573}" "ApoI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082274" "3" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Silva 2004:15512997}" "ApoI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082275" "3" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Silva 2004:15512997}" "ApoI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082276" "3" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "1/100 cases" "{PMID:Dharmaraj 2000:11035546}" "ApoI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082277" "3" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Zernant 2005:16123401}" "ApoI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082278" "3" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Zernant 2005:16123401}" "ApoI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082279" "0" "77" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Thompson 2000:11095629}" "ApoI-" "358G->T" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "likely pathogenic (recessive)" "" "0000082280" "3" "77" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Thompson 2000:11095629}" "ApoI-" "358G->T" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "likely pathogenic (recessive)" "" "0000082281" "0" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Thompson 2000:11095629}" "ApoI-" "358G->T" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082282" "3" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Zernant 2005:16123401}" "ApoI-" "" "not in 200 controls" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082283" "3" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Zernant 2005:16123401}" "ApoI-" "" "not in 200 controls" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082284" "0" "99" "1" "68910508" "68910508" "subst" "3.65672E-5" "01424" "RPE65_000032" "g.68910508C>A" "" "{PMID:Stone 2007:17964524}" "ApoI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "" "0000082286" "0" "77" "1" "68910501" "68910501" "subst" "0" "01424" "RPE65_000027" "g.68910501C>T" "" "{PMID:Jacobson 2009:19117922}" "BanI-;NlaIV-" "" "" "Germline" "" "" "0" "" "" "g.68444818C>T" "" "likely pathogenic (recessive)" "" "0000082287" "0" "77" "1" "68910483" "68910483" "subst" "0" "01424" "RPE65_000076" "g.68910483T>A" "" "{PMID:Henderson 2007:18055820}" "BmrI+;BsrI+;DpnI-;DpnII-;MboI-;Sau3AI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444800T>A" "" "likely pathogenic (recessive)" "" "0000082288" "21" "77" "1" "68910468" "68910468" "subst" "0" "01424" "RPE65_000075" "g.68910468A>G" "3/8 chromosomes" "{PMID:Schatz 2011:21211845}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444785A>G" "" "likely pathogenic (recessive)" "" "0000082289" "0" "77" "1" "68910355" "68910355" "subst" "0" "01424" "RPE65_000074" "g.68910355C>A" "" "{PMID:Weleber 2011:20811047}" "BsrI+;BssKI-;BstNI-;PspGI-;ScrFI-;StyD4I-" "" "" "Germline" "yes" "" "0" "" "" "g.68444672C>A" "" "likely pathogenic (recessive)" "" "0000082290" "0" "77" "1" "68910355" "68910355" "subst" "0" "01424" "RPE65_000074" "g.68910355C>A" "" "{PMID:Weleber 2011:20811047}" "BsrI+;BssKI-;BstNI-;PspGI-;ScrFI-;StyD4I-" "" "" "Germline" "yes" "" "0" "" "" "g.68444672C>A" "" "likely pathogenic (recessive)" "" "0000082291" "0" "77" "1" "68910355" "68910355" "subst" "0" "01424" "RPE65_000074" "g.68910355C>A" "" "{PMID:Stone 2007:17964524}" "BsrI+;ApeKI-;BbvI-;Fnu4HI-;TseI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444672C>A" "" "likely pathogenic (recessive)" "" "0000082292" "3" "99" "1" "68910354" "68910354" "del" "0" "01424" "RPE65_000072" "g.68910354del" "4/222 chromosomes" "{PMID:Verma 2013:24066033}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000082293" "3" "99" "1" "68910354" "68910354" "del" "0" "01424" "RPE65_000072" "g.68910354del" "4/222 chromosomes" "{PMID:Verma 2013:24066033}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000082294" "3" "99" "1" "68910354" "68910354" "del" "0" "01424" "RPE65_000072" "g.68910354del" "8/440 chromosomes" "{PMID:Kabir 2013:23878505}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000082295" "3" "99" "1" "68910354" "68910354" "del" "0" "01424" "RPE65_000072" "g.68910354del" "8/440 chromosomes" "{PMID:Kabir 2013:23878505}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000082296" "3" "99" "1" "68910354" "68910354" "del" "0" "01424" "RPE65_000072" "g.68910354del" "8/440 chromosomes" "{PMID:Kabir 2013:23878505}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000082297" "0" "99" "1" "68910354" "68910354" "del" "0" "01424" "RPE65_000072" "g.68910354del" "1/91 cases" "{PMID:Coppieters 2010:20683928}" "-" "" "" "De novo" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000082298" "0" "99" "1" "68910354" "68910354" "del" "0" "01424" "RPE65_000072" "g.68910354del" "" "{PMID:Wang 2014:25097241}" "-" "361delT" "" "Germline" "" "" "0" "" "" "g.68444671del" "" "pathogenic" "" "0000082299" "3" "99" "1" "68910354" "68910354" "dup" "0" "01424" "RPE65_000073" "g.68910354dup" "2/222 chromosomes" "{PMID:Verma 2013:24066033}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444671dup" "" "pathogenic (recessive)" "" "0000082300" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "1/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082301" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "1/91 cases" "{PMID:Coppieters 2010:20683928}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082302" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "" "{PMID:Pasadhika 2010:19959640}" "TaqI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082303" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "1/58 cases" "{PMID:Yzer 2006:16505055}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082304" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "1/110 cases" "{PMID:Galvin 2005:16205573}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082305" "3" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "" "{PMID:Simonelli 2007:17724218}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082306" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "" "{PMID:Yzer 2006:16505055}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082307" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "" "{PMID:Thompson 2000:11095629}" "TaqI-" "424C->T" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082308" "11" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "" "{PMID:Morimura 1998:9501220}" "TaqI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082309" "0" "99" "1" "68910339" "68910339" "subst" "3.65649E-5" "01424" "RPE65_000011" "g.68910339G>A" "" "{PMID:Stone 2007:17964524}" "TaqI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000082310" "0" "11" "1" "68910327" "68910327" "subst" "0" "01424" "RPE65_000066" "g.68910327C>G" "" "{PMID:Thompson 2000:11095629}" "HinfI+" "337G->C" "" "Germline" "yes" "" "0" "" "" "g.68444644C>G" "" "benign" "" "0000082311" "0" "30" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "1/222 chromosomes" "{PMID:Verma 2013:24066033}, {PMID:Lek 2016:27535533}" "-" "" "variant re-classified based on Lek 2016; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "likely benign (!)" "" "0000082312" "3" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Bonilha 2011:21931134}" "-" "" "unlikely pathogenic, present in EVS relatively high frequency" "Germline" "yes" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082313" "0" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Bereta 2008:18722466}" "-" "" "unlikely pathogenic, present in EVS relatively high frequency; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082314" "0" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Bereta 2008:18722466}" "-" "" "unlikely pathogenic, present in EVS relatively high frequency; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082315" "0" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Thompson 2000:11095629}" "-" "448G->A" "present in exome variant server; unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082316" "3" "30" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Morimura 1998:9501220}, {PMID:Lek 2016:27535533}" "-" "" "unlikely pathogenic, re-classified based on Lek 2016" "Germline" "yes" "" "0" "" "" "g.68444632C>T" "" "likely benign (!)" "" "0000082317" "3" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Morimura 1998:9501220}" "-" "" "unlikely pathogenic, present in EVS relatively high frequency" "Germline" "yes" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082318" "0" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082319" "0" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082320" "0" "11" "1" "68910315" "68910315" "subst" "0.00294476" "01424" "RPE65_000064" "g.68910315C>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000082321" "3" "30" "1" "68910314" "68910314" "subst" "0" "01424" "RPE65_000127" "g.68910314G>T" "" "{PMID:Jacobson 2009:19117922}, {PMID:Lek 2016:27535533}" "-" "" "variant re-classified based on Lek 2016" "Germline" "" "" "0" "" "" "g.68444631G>T" "" "likely benign (!)" "" "0000082322" "0" "11" "1" "68910303" "68910303" "subst" "8.12321E-6" "01424" "RPE65_000126" "g.68910303C>A" "" "{PMID:Weleber 2011:20811047}" "MluCI+;AccI-;Hpy166II-" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68444620C>A" "" "benign" "" "0000082323" "3" "77" "1" "68910282" "68910282" "subst" "0" "01424" "RPE65_000125" "g.68910282A>C" "" "{PMID:Sundaresan 2009:19753312}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444599A>C" "" "likely pathogenic (recessive)" "" "0000082324" "11" "77" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000098" "g.68910279A>G" "" "{PMID:Chen 2013:23661368}, {PMID:Li 2029:31273949}, {PMID:Li 2020:31572124}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68444596A>G" "" "likely pathogenic (recessive)" "" "0000082325" "3" "77" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000122" "g.68910279A>C" "" "{PMID:Jacobson 2009:19117922}" "HgaI-;Hpy99I-" "" "" "Germline" "" "" "0" "" "" "g.68444596A>C" "" "likely pathogenic (recessive)" "" "0000082326" "0" "77" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000122" "g.68910279A>C" "" "{PMID:Simonelli 2007:17724218}" "HgaI+;Hpy99I+" "" "" "Germline" "yes" "" "0" "" "" "g.68444596A>C" "" "likely pathogenic (recessive)" "" "0000082327" "3" "99" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000122" "g.68910279A>C" "" "{PMID:Chen 2006:16828753}" "HgaI+;Hpy99I+" "" "" "Unknown" "yes" "" "0" "" "" "g.68444596A>C" "" "pathogenic (recessive)" "" "0000082328" "3" "77" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000122" "g.68910279A>C" "" "{PMID:Jacobson 2005:15837919}" "HgaI+;Hpy99I+" "" "" "Germline" "yes" "" "0" "" "" "g.68444596A>C" "" "likely pathogenic (recessive)" "" "0000082329" "3" "77" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000122" "g.68910279A>C" "" "{PMID:Simovich 2001:11462243}" "HgaI+;Hpy99I+" "" "" "Germline" "yes" "" "0" "" "" "g.68444596A>C" "" "likely pathogenic (recessive)" "" "0000082330" "3" "77" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000122" "g.68910279A>C" "" "{PMID:Stone 2007:17964524}" "HgaI+" "" "" "Germline" "" "" "0" "" "" "g.68444596A>C" "" "likely pathogenic (recessive)" "" "0000082331" "3" "77" "1" "68910279" "68910279" "subst" "0" "01424" "RPE65_000122" "g.68910279A>C" "" "{PMID:Jacobson 2007:17848510}" "HgaI+" "" "" "Germline" "" "" "0" "" "" "g.68444596A>C" "" "likely pathogenic (recessive)" "" "0000082332" "11" "77" "1" "68910275" "68910275" "subst" "0" "01424" "RPE65_000097" "g.68910275G>T" "" "{PMID:Fu 2013:23661369}" "Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.68444592G>T" "" "likely pathogenic (recessive)" "" "0000082333" "11" "77" "1" "68910275" "68910275" "subst" "0" "01424" "RPE65_000097" "g.68910275G>T" "" "{PMID:Fu 2013:23661369}" "Cac8I-" "" "" "Germline" "yes" "" "0" "" "" "g.68444592G>T" "" "likely pathogenic (recessive)" "" "0000082334" "3" "99" "1" "68910270" "68910271" "del" "0" "01424" "RPE65_000096" "g.68910270_68910271del" "" "{PMID:Simonelli 2007:17724218}" "-" "438-439delCA" "" "Germline" "yes" "" "0" "" "" "g.68444587_68444588del" "" "pathogenic (recessive)" "" "0000082335" "0" "77" "1" "68910265" "68910265" "subst" "0" "01424" "RPE65_000095" "g.68910265C>A" "" "{PMID:Hanein 2004:15024725}" "BcoDI-;BsaI-;BsmAI-" "" "" "Germline" "yes" "" "0" "" "" "g.68444582C>A" "" "likely pathogenic (recessive)" "" "0000082336" "0" "77" "1" "68910225" "68910225" "subst" "8.12282E-6" "01424" "RPE65_000094" "g.68910225T>G" "" "{PMID:Stone 2007:17964524}" "CviKI_1+;MwoI+;NlaIV+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68444542T>G" "" "likely pathogenic (recessive)" "" "0000082337" "0" "77" "1" "68906680" "68906680" "subst" "1.22059E-5" "01424" "RPE65_000071" "g.68906680C>A" "1/18 chromosomes" "{PMID:Ripamonti 2014:25257057}" "BfuCI-;DpnI-;DpnII-;MboI-;Sau3AI-" "" "" "Germline" "yes" "" "0" "" "" "g.68440997C>A" "" "likely pathogenic (recessive)" "" "0000082338" "0" "77" "1" "68906680" "68906680" "subst" "1.22059E-5" "01424" "RPE65_000071" "g.68906680C>A" "" "{PMID:Lorenz 2004:15288992}" "BfuCI-;DpnI-;DpnII-;MboI-;Sau3AI-" "" "" "Germline" "yes" "" "0" "" "" "g.68440997C>A" "" "likely pathogenic (recessive)" "" "0000082339" "0" "77" "1" "68906680" "68906680" "subst" "1.22059E-5" "01424" "RPE65_000071" "g.68906680C>A" "" "{PMID:Simonelli 2007:17724218}" "BfuCI-;DpnI-;DpnII-;MboI-;Sau3AI-" "" "" "Germline" "yes" "" "0" "" "" "g.68440997C>A" "" "likely pathogenic (recessive)" "" "0000082340" "0" "77" "1" "68906680" "68906680" "subst" "1.22059E-5" "01424" "RPE65_000071" "g.68906680C>A" "" "{PMID:Thompson 2000:11095629}" "MboI-" "553G->T" "" "Germline" "yes" "" "0" "" "" "g.68440997C>A" "" "likely pathogenic (recessive)" "" "0000082341" "0" "77" "1" "68906680" "68906680" "subst" "1.22059E-5" "01424" "RPE65_000071" "g.68906680C>A" "" "{PMID:Henderson 2007:18055820}" "BfuCI-" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68440997C>A" "" "likely pathogenic (recessive)" "" "0000082342" "0" "77" "1" "68906680" "68906680" "subst" "1.22059E-5" "01424" "RPE65_000071" "g.68906680C>A" "" "{PMID:Stone 2007:17964524}" "Sau3AI-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68440997C>A" "" "likely pathogenic (recessive)" "" "0000082343" "3" "99" "1" "68906679" "68906679" "del" "0" "01424" "RPE65_000070" "g.68906679del" "" "{PMID:Jacobson 2009:19117922}" "BfuCI-;DpnI-;DpnII-;MboI-;Sau3AI-" "A500del5bp" "" "Germline" "" "" "0" "" "" "g.68440996del" "" "pathogenic (recessive)" "" "0000082344" "3" "99" "1" "68906679" "68906679" "del" "0" "01424" "RPE65_000070" "g.68906679del" "" "{PMID:Jacobson 2009:19117922}" "BfuCI-;DpnI-;DpnII-;MboI-;Sau3AI-" "A500del5bp" "" "Germline" "" "" "0" "" "" "g.68440996del" "" "pathogenic (recessive)" "" "0000082345" "0" "77" "1" "68906639" "68906639" "subst" "0" "01424" "RPE65_000069" "g.68906639G>T" "1/46 chromosomes" "{PMID:Khan 2014:24997176}" "HphI-" "" "" "Germline" "yes" "" "0" "" "" "g.68440956G>T" "" "likely pathogenic (recessive)" "" "0000082346" "3" "77" "1" "68906637" "68906637" "subst" "0" "01424" "RPE65_000068" "g.68906637G>A" "1/91 cases" "{PMID:Coppieters 2010:20683928}" "MnlI+" "" "" "Germline" "yes" "" "0" "" "" "g.68440954G>A" "" "likely pathogenic (recessive)" "" "0000082347" "0" "77" "1" "68906635" "68906635" "subst" "0" "01424" "RPE65_000025" "g.68906635G>T" "" "{PMID:Hanein 2004:15024725}" "-" "" "" "Germline" "" "" "0" "" "" "g.68440952G>T" "" "likely pathogenic (recessive)" "" "0000082348" "0" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082349" "0" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "" "{PMID:Pasadhika 2010:19959640}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082350" "0" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "2/110 cases" "{PMID:Galvin 2005:16205573}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082351" "0" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "2/110 cases" "{PMID:Galvin 2005:16205573}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082352" "0" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082353" "0" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "" "{PMID:Simovich 2001:11462243}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082354" "21" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "" "{PMID:Morimura 1998:9501220}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082355" "21" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "" "{PMID:Morimura 1998:9501220}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082356" "0" "77" "1" "68906635" "68906635" "subst" "4.06626E-6" "01424" "RPE65_000026" "g.68906635G>A" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68440952G>A" "" "likely pathogenic (recessive)" "" "0000082357" "3" "77" "1" "68906634" "68906634" "subst" "4.06607E-6" "01424" "RPE65_000024" "g.68906634T>C" "" "{PMID:Jacobson 2009:19117922}" "AciI+;FauI+" "" "" "Germline" "" "" "0" "" "" "g.68440951T>C" "" "likely pathogenic (recessive)" "" "0000082358" "3" "77" "1" "68906634" "68906634" "subst" "4.06607E-6" "01424" "RPE65_000024" "g.68906634T>C" "" "{PMID:Bereta 2008:18722466}" "AciI+;FauI+" "" "" "Germline" "yes" "" "0" "" "" "g.68440951T>C" "" "likely pathogenic (recessive)" "" "0000082359" "3" "77" "1" "68906634" "68906634" "subst" "4.06607E-6" "01424" "RPE65_000024" "g.68906634T>C" "" "{PMID:Jacobson 2005:15837919}" "AciI+;FauI+" "" "" "Germline" "yes" "" "0" "" "" "g.68440951T>C" "" "likely pathogenic (recessive)" "" "0000082360" "3" "77" "1" "68906634" "68906634" "subst" "4.06607E-6" "01424" "RPE65_000024" "g.68906634T>C" "" "{PMID:Jacobson 2007:17848510}" "AciI+;FauI+" "" "" "Germline" "" "" "0" "" "" "g.68440951T>C" "" "likely pathogenic (recessive)" "" "0000082361" "0" "55" "1" "68906614" "68906614" "subst" "9.76173E-5" "01424" "RPE65_000023" "g.68906614C>T" "" "{PMID:Bereta 2008:18722466}" "Hpy166II-;HpyCH4III-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68440931C>T" "" "VUS" "" "0000082362" "3" "99" "1" "68914343" "68914344" "del" "0" "01424" "RPE65_000132" "g.68914343_68914344del" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "SfcI+;BsaXI (2)-" "p.(Val19Valfs*31)" "" "Germline" "yes" "" "0" "" "" "g.68448660_68448661del" "" "pathogenic (recessive)" "" "0000082363" "3" "99" "1" "68914343" "68914344" "del" "0" "01424" "RPE65_000132" "g.68914343_68914344del" "1/100 cases" "{PMID:Dharmaraj 2000:11035546}" "SfcI+;BsaXI (2) -" "V19del2bp" "" "Germline" "yes" "" "0" "" "" "g.68448660_68448661del" "" "pathogenic (recessive)" "" "0000082364" "0" "99" "1" "68906564" "68906565" "del" "0" "01424" "RPE65_000022" "g.68906564_68906565del" "" "{PMID:Hanein 2004:15024725}" "-" "p.Asn205fsX233" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68440881_68440882del" "" "pathogenic (recessive)" "" "0000082365" "0" "99" "1" "68906564" "68906565" "del" "0" "01424" "RPE65_000022" "g.68906564_68906565del" "" "{PMID:Thompson 2000:11095629}" "MunI+" "669delCA" "" "Germline" "yes" "" "0" "" "" "g.68440881_68440882del" "" "pathogenic (recessive)" "" "0000082366" "3" "99" "1" "68906535" "68906535" "subst" "0" "01424" "RPE65_000021" "g.68906535C>G" "5/117 cases" "{PMID:Li 2009:18936139}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440852C>G" "" "pathogenic (recessive)" "" "0000082367" "3" "99" "1" "68906535" "68906535" "subst" "0" "01424" "RPE65_000021" "g.68906535C>G" "5/117 cases" "{PMID:Li 2009:18936139}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440852C>G" "" "pathogenic (recessive)" "" "0000082368" "3" "99" "1" "68906535" "68906535" "subst" "0" "01424" "RPE65_000021" "g.68906535C>G" "5/117 cases" "{PMID:Li 2009:18936139}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440852C>G" "" "pathogenic (recessive)" "" "0000082369" "3" "99" "1" "68906535" "68906535" "subst" "0" "01424" "RPE65_000021" "g.68906535C>G" "5/117 cases" "{PMID:Li 2009:18936139}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440852C>G" "" "pathogenic (recessive)" "" "0000082370" "3" "99" "1" "68906535" "68906535" "subst" "0" "01424" "RPE65_000021" "g.68906535C>G" "5/117 cases" "{PMID:Li 2009:18936139}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68440852C>G" "" "pathogenic (recessive)" "" "0000082371" "0" "77" "1" "68906532" "68906532" "subst" "0" "01424" "RPE65_000020" "g.68906532T>C" "" "{PMID:Thompson 2000:11095629}" "AluI+" "IVS7+4A>G" "" "Germline" "yes" "" "0" "" "" "g.68440849T>C" "" "likely pathogenic (recessive)" "" "0000082372" "0" "99" "1" "68905327" "68905327" "subst" "0" "01424" "RPE65_000019" "g.68905327T>A" "" "{PMID:Hanein 2004:15024725}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439644T>A" "" "pathogenic (recessive)" "" "0000082373" "3" "99" "1" "68905327" "68905327" "subst" "0" "01424" "RPE65_000019" "g.68905327T>A" "" "{PMID:Morimura 1998:9501220}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439644T>A" "" "pathogenic (recessive)" "" "0000082374" "0" "77" "1" "68914336" "68914336" "subst" "2.84403E-5" "01424" "RPE65_000151" "g.68914336A>G" "" "{PMID:Simonelli 2007:17724218}" "NlaIV+" "" "" "Germline" "yes" "" "0" "" "" "g.68448653A>G" "" "likely pathogenic (recessive)" "" "0000082375" "11" "77" "1" "68914336" "68914336" "subst" "2.84403E-5" "01424" "RPE65_000151" "g.68914336A>G" "1/184" "{PMID:Marlhens 1998:9801879}, {PMID:Hamel 2001:11264131}" "NlaIV+" "119T>C" "" "Germline" "yes" "" "0" "" "" "g.68448653A>G" "" "likely pathogenic (recessive)" "" "0000082376" "0" "77" "1" "68905300" "68905301" "del" "0" "01424" "RPE65_000067" "g.68905300_68905301del" "" "{PMID:Thompson 2000:11095629}" "MunI+" "669delCA" "" "Germline" "yes" "" "0" "" "" "g.68439617_68439618del" "" "likely pathogenic (recessive)" "" "0000082377" "0" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "1/91 cases" "{PMID:Coppieters 2010:20683928}" "AlwNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082378" "11" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Hamel 2001:11264131}, {PMID:Lorenz 2004:15288992}" "AlwNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082379" "11" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Hamel 2001:11264131}, {PMID:Lorenz 2004:15288992}" "AlwNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082380" "3" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Simonelli 2007:17724218}" "AlwNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082381" "0" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Hanein 2004:15024725}" "AlwNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082382" "0" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Thompson 2000:11095629}" "AlwNI+" "754C->T" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082383" "11" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Perrault 1999:10090910}" "AlwNI++" "C754T" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082384" "11" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Perrault 1999:10090910}" "AlwNI++" "C754T" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082385" "11" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Marlhens 1997:9326927}" "AlwNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082386" "11" "99" "1" "68905269" "68905269" "subst" "3.25013E-5" "01424" "RPE65_000065" "g.68905269G>A" "" "{PMID:Marlhens 1997:9326927}" "AlwNI+" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000082387" "0" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082388" "0" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Pasadhika 2010:19959640}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082389" "0" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "1/110 cases" "{PMID:Galvin 2005:16205573}" "-" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082390" "3" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Philpa 2009:19431183}" "-" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082391" "0" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082392" "3" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Booij 2011:20801516}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082394" "0" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082395" "0" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082396" "0" "77" "1" "68905254" "68905254" "subst" "4.06279E-6" "01424" "RPE65_000004" "g.68905254A>C" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439571A>C" "" "likely pathogenic (recessive)" "" "0000082397" "0" "77" "1" "68905240" "68905240" "subst" "0" "01424" "RPE65_000063" "g.68905240T>C" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439557T>C" "" "likely pathogenic (recessive)" "" "0000082398" "0" "77" "1" "68905240" "68905240" "subst" "0" "01424" "RPE65_000063" "g.68905240T>C" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439557T>C" "" "likely pathogenic (recessive)" "" "0000082399" "0" "55" "1" "68905240" "68905240" "subst" "0" "01424" "RPE65_000063" "g.68905240T>C" "" "{PMID:Simovich 2001:11462243}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439557T>C" "" "VUS" "" "0000082400" "0" "77" "1" "68905240" "68905240" "subst" "0" "01424" "RPE65_000063" "g.68905240T>C" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439557T>C" "" "likely pathogenic (recessive)" "" "0000082401" "0" "99" "1" "68905240" "68905240" "subst" "0" "01424" "RPE65_000063" "g.68905240T>C" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439557T>C" "" "pathogenic (recessive)" "" "0000082402" "0" "77" "1" "68905009" "68905009" "subst" "3.27509E-5" "01424" "RPE65_000062" "g.68905009G>T" "" "{PMID:González-del Pozo 2011:22164218}" "" "" "unknown variant 2ndchromosome; not in100 controls" "Germline" "yes" "" "0" "" "" "g.68439326G>T" "" "likely pathogenic (recessive)" "" "0000082403" "3" "77" "1" "68905001" "68905001" "subst" "0" "01424" "RPE65_000061" "g.68905001C>A" "" "{PMID:Bereta 2008:18722466}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439318C>A" "" "likely pathogenic (recessive)" "" "0000082404" "3" "77" "1" "68904986" "68904986" "subst" "2.03781E-5" "01424" "RPE65_000060" "g.68904986T>C" "" "{PMID:Henderson 2007:18055820}, {PMID:Hull 2016:26906952}" "HpyCH4III" "" "" "Germline" "yes" "" "0" "" "" "g.68439303T>C" "" "likely pathogenic (recessive)" "" "0000082405" "3" "77" "1" "68914327" "68914327" "subst" "1.219E-5" "01424" "RPE65_000150" "g.68914327G>A" "" "{PMID:Lorenz 2008:18599565}" "ApeKI+;BbvI+;TseI+;AciI-;BsrBI-" "n.128C>T" "" "Germline" "yes" "" "0" "" "" "g.68448644G>A" "" "likely pathogenic (recessive)" "" "0000082406" "3" "77" "1" "68904981" "68904981" "subst" "0" "01424" "RPE65_000059" "g.68904981C>A" "" "{PMID:Mckibbin 2010:20065226}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439298C>A" "" "likely pathogenic (recessive)" "" "0000082407" "0" "99" "1" "68904949" "68904956" "del" "0" "01424" "RPE65_000093" "g.68904949_68904956del" "" "{PMID:Lorenz 2004:15288992}" "ApoI+;MseI-" "777-784del8" "" "Germline" "yes" "" "0" "" "" "g.68439266_68439273del" "" "pathogenic (recessive)" "" "0000082408" "0" "99" "1" "68904949" "68904956" "del" "0" "01424" "RPE65_000093" "g.68904949_68904956del" "" "{PMID:Thompson 2000:11095629}" "ApoI+" "831del8" "" "Germline" "yes" "" "0" "" "" "g.68439266_68439273del" "" "pathogenic (recessive)" "" "0000082409" "10" "99" "1" "68904949" "68904956" "del" "0" "01424" "RPE65_000093" "g.68904949_68904956del" "" "{PMID:Gu 1997:9326941}" "ApoI+;MseI-" "831del8" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439266_68439273del" "" "pathogenic (recessive)" "" "0000082410" "10" "99" "1" "68904949" "68904956" "del" "0" "01424" "RPE65_000093" "g.68904949_68904956del" "" "{PMID:Gu 1997:9326941}" "ApoI+;MseI-" "831del8" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439266_68439273del" "" "pathogenic (recessive)" "" "0000082411" "0" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000091" "g.68904873C>T" "" "{PMID:Hanein 2004:15024725}" "-" "" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68439190C>T" "" "pathogenic (recessive)" "" "0000082412" "21" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000091" "g.68904873C>T" "" "{PMID:Perrault 1999:10090910}" "-" "912+1G/A" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68439190C>T" "" "pathogenic (recessive)" "" "0000082413" "21" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000091" "g.68904873C>T" "" "{PMID:Perrault 1999:10090910}" "-" "912+1G/A" "unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.68439190C>T" "" "pathogenic (recessive)" "" "0000082414" "21" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000091" "g.68904873C>T" "" "{PMID:Perrault 1999:10090910}" "-" "912+1G/A" "unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.68439190C>T" "" "pathogenic (recessive)" "" "0000082415" "0" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000092" "g.68904873C>A" "1/20 cases" "{PMID:Seong 2008:18682808}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439190C>A" "" "pathogenic (recessive)" "" "0000082416" "3" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000092" "g.68904873C>A" "" "{PMID:Gu 1997:9326941}" "MseI+" "912+1G->T" "" "Germline" "yes" "" "0" "" "" "g.68439190C>A" "" "pathogenic (recessive)" "" "0000082417" "3" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000092" "g.68904873C>A" "" "{PMID:Gu 1997:9326941}" "MseI+" "912+1G->T" "" "Germline" "yes" "" "0" "" "" "g.68439190C>A" "" "pathogenic (recessive)" "" "0000082418" "11" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000092" "g.68904873C>A" "" "{PMID:Gu 1997:9326941}" "MseI+" "912+1G->T" "unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68439190C>A" "" "pathogenic (recessive)" "" "0000082419" "3" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000092" "g.68904873C>A" "" "{PMID:Gu 1997:9326941}" "MseI+" "912+1G->T" "" "Germline" "yes" "" "0" "" "" "g.68439190C>A" "" "pathogenic (recessive)" "" "0000082420" "3" "99" "1" "68904873" "68904873" "subst" "0" "01424" "RPE65_000092" "g.68904873C>A" "" "{PMID:Gu 1997:9326941}" "MseI+" "912+1G->T" "" "Germline" "yes" "" "0" "" "" "g.68439190C>A" "" "pathogenic (recessive)" "" "0000082421" "3" "77" "1" "68904764" "68904764" "subst" "0" "01424" "RPE65_000117" "g.68904764C>A" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439081C>A" "" "likely pathogenic (recessive)" "" "0000082422" "3" "77" "1" "68904764" "68904764" "subst" "0" "01424" "RPE65_000117" "g.68904764C>A" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439081C>A" "" "likely pathogenic (recessive)" "" "0000082423" "3" "77" "1" "68904764" "68904764" "subst" "0" "01424" "RPE65_000117" "g.68904764C>A" "" "{PMID:Bereta 2008:18722466}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439081C>A" "" "likely pathogenic (recessive)" "" "0000082424" "3" "77" "1" "68904764" "68904764" "subst" "0" "01424" "RPE65_000117" "g.68904764C>A" "" "{PMID:Jacobson 2008:18539930}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439081C>A" "" "likely pathogenic (recessive)" "" "0000082425" "3" "77" "1" "68904764" "68904764" "subst" "0" "01424" "RPE65_000117" "g.68904764C>A" "" "{PMID:Lotery 2000:10766140}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439081C>A" "" "likely pathogenic (recessive)" "" "0000082426" "3" "77" "1" "68904764" "68904764" "subst" "0" "01424" "RPE65_000117" "g.68904764C>A" "" "{PMID:Stone 2007:17964524}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439081C>A" "" "likely pathogenic (recessive)" "" "0000082427" "3" "77" "1" "68904764" "68904764" "subst" "0" "01424" "RPE65_000117" "g.68904764C>A" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439081C>A" "" "likely pathogenic (recessive)" "" "0000082428" "0" "77" "1" "68904759" "68904759" "subst" "0" "01424" "RPE65_000145" "g.68904759C>A" "" "{PMID:Bereta 2008:18722466}" "BbsI+;MboII+;CviKI_1-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439076C>A" "" "likely pathogenic (recessive)" "" "0000082429" "0" "77" "1" "68904755" "68904755" "subst" "0" "01424" "RPE65_000143" "g.68904755G>A" "3/30 cases" "{PMID:Verma 2013:24066033}" "-" "" "digenic (RPGRIP1 mutation, c.3560_3566 Del 7bp)" "Germline" "" "" "0" "" "" "g.68439072G>A" "" "likely pathogenic (recessive)" "" "0000082430" "0" "77" "1" "68904755" "68904755" "subst" "0" "01424" "RPE65_000143" "g.68904755G>A" "3/30 cases" "{PMID:Verma 2013:24066033}" "-" "" "digenic (RPGRIP1 mutation, c.3560_3566 Del 7bp)" "Germline" "" "" "0" "" "" "g.68439072G>A" "" "likely pathogenic (recessive)" "" "0000082431" "0" "77" "1" "68904755" "68904755" "subst" "0" "01424" "RPE65_000143" "g.68904755G>A" "3/30 cases" "{PMID:Verma 2013:24066033}" "-" "" "digenic (RPGRIP1 mutation, c.3560_3566 Del 7bp)" "Germline" "" "" "0" "" "" "g.68439072G>A" "" "likely pathogenic (recessive)" "" "0000082432" "0" "11" "1" "68904752" "68904752" "subst" "2.4398E-5" "01424" "RPE65_000142" "g.68904752T>C" "" "{PMID:Bereta 2008:18722466}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439069T>C" "" "benign" "" "0000082433" "11" "99" "1" "68904742" "68904742" "subst" "0.00525229" "01424" "RPE65_000014" "g.68904742T>G" "" "{PMID:Philpa 2009:19431183}" "HinfI-;Hpy188III-;LpnPI (2)-;MluCI-;NdeI-;TfiI-;XcmI-" "p.Lys294Thr" "" "Germline" "yes" "" "0" "" "" "g.68439059T>G" "" "pathogenic (recessive)" "" "0000082434" "0" "11" "1" "68904742" "68904742" "subst" "0.00525229" "01424" "RPE65_000014" "g.68904742T>G" "" "{PMID:Thompson 2000:11095629}" "-" "935A->C" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439059T>G" "" "benign" "" "0000082435" "0" "11" "1" "68904742" "68904742" "subst" "0.00525229" "01424" "RPE65_000014" "g.68904742T>G" "" "{PMID:Thompson 2000:11095629}" "-" "935A->C" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439059T>G" "" "benign" "" "0000082436" "0" "11" "1" "68904742" "68904742" "subst" "0.00525229" "01424" "RPE65_000014" "g.68904742T>G" "" "{PMID:Thompson 2000:11095629}" "-" "935A->C" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439059T>G" "" "benign" "" "0000082437" "1" "11" "1" "68904742" "68904742" "subst" "0.00525229" "01424" "RPE65_000014" "g.68904742T>G" "" "{PMID:Glockle 2013:23591405}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439059T>G" "" "benign" "" "0000082438" "0" "99" "1" "68904743" "68904743" "dup" "0" "01424" "RPE65_000140" "g.68904743dup" "1/91 cases" "{PMID:Coppieters 2010:20683928}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439060dup" "" "pathogenic (recessive)" "" "0000082439" "0" "99" "1" "68904734" "68904734" "del" "0" "01424" "RPE65_000057" "g.68904734del" "" "{PMID:Henderson 2007:18055820}" "-" "889delA" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439051del" "" "pathogenic (recessive)" "" "0000082440" "0" "99" "1" "68904734" "68904734" "del" "0" "01424" "RPE65_000057" "g.68904734del" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439051del" "" "pathogenic (recessive)" "" "0000082441" "0" "99" "1" "68904734" "68904734" "del" "0" "01424" "RPE65_000057" "g.68904734del" "" "{PMID:Simovich 2001:11462243}" "-" "889delA" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439051del" "" "pathogenic (recessive)" "" "0000082442" "0" "99" "1" "68904734" "68904734" "del" "0" "01424" "RPE65_000057" "g.68904734del" "" "{PMID:Lotery 2000:10766140}" "-" "1-bp del (a) codon 298" "" "Unknown" "yes" "" "0" "" "" "g.68439051del" "" "pathogenic (recessive)" "" "0000082443" "3" "99" "1" "68904734" "68904734" "del" "0" "01424" "RPE65_000057" "g.68904734del" "" "{PMID:Wang 2014:24154662}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68439051del" "" "pathogenic (recessive)" "" "0000082444" "0" "99" "1" "68904734" "68904734" "del" "0" "01424" "RPE65_000057" "g.68904734del" "" "{PMID:Jacobson 2007:17848510}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439051del" "" "pathogenic (recessive)" "" "0000082445" "21" "99" "1" "68914312" "68914312" "dup" "0" "01424" "RPE65_000148" "g.68914312dup" "" "{PMID:Gu 1997:9326941}" "HincII+;HpaI+;Hpy166II+;MseI+" "Ins144T" "" "Germline" "yes" "" "0" "" "" "g.68448629dup" "" "pathogenic (recessive)" "" "0000082446" "0" "55" "1" "68914312" "68914312" "subst" "4.06379E-6" "01424" "RPE65_000149" "g.68914312A>G" "" "{PMID:Wang 2014:25097241}" "HpyCH4V+" "" "" "Germline" "yes" "" "0" "" "" "g.68448629A>G" "" "VUS" "" "0000082447" "0" "99" "1" "68914310" "68914311" "ins" "0" "01424" "RPE65_000147" "g.68914310_68914311insA" "" "{PMID:Thompson 2000:11095629}" "MseI+" "144insT" "" "Germline" "yes" "" "0" "" "" "g.68448627_68448628insA" "" "pathogenic (recessive)" "" "0000082448" "0" "99" "1" "68904716" "68904716" "subst" "0" "01424" "RPE65_000056" "g.68904716T>A" "" "{PMID:Jacobson 2009:19117922}" "AseI+;MluCI+;MseI+" "" "" "Germline" "" "" "0" "" "" "g.68439033T>A" "" "pathogenic (recessive)" "" "0000082449" "0" "99" "1" "68904716" "68904716" "subst" "0" "01424" "RPE65_000056" "g.68904716T>A" "" "{PMID:Jacobson 2005:15837919}" "AseI+" "961A>T" "" "Germline" "yes" "" "0" "" "" "g.68439033T>A" "" "pathogenic (recessive)" "" "0000082450" "0" "99" "1" "68904716" "68904716" "subst" "0" "01424" "RPE65_000056" "g.68904716T>A" "" "{PMID:Al-Khayer 2004:14962443}" "AseI+" "961A>T" "" "Germline" "yes" "" "0" "" "" "g.68439033T>A" "" "pathogenic (recessive)" "" "0000082451" "0" "99" "1" "68904716" "68904716" "subst" "0" "01424" "RPE65_000056" "g.68904716T>A" "" "{PMID:Stone 2007:17964524}" "MluCI+" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68439033T>A" "" "pathogenic (recessive)" "" "0000082452" "0" "99" "1" "68904716" "68904716" "subst" "0" "01424" "RPE65_000056" "g.68904716T>A" "" "{PMID:Jacobson 2007:17848510}" "AseI+" "" "" "Germline" "" "" "0" "" "" "g.68439033T>A" "" "pathogenic (recessive)" "" "0000082453" "0" "99" "1" "68904711" "68904711" "subst" "0" "01424" "RPE65_000055" "g.68904711G>T" "" "{PMID:Huang 2014:25356976}" "-" "" "" "Germline" "" "" "0" "" "" "g.68439028G>T" "" "pathogenic (recessive)" "" "0000082454" "0" "55" "1" "68904706" "68904706" "subst" "0" "01424" "RPE65_000054" "g.68904706G>A" "" "{PMID:Huang 2014:25356976}" "ApoI+" "" "" "Germline" "" "" "0" "" "" "g.68439023G>A" "" "VUS" "" "0000082455" "0" "77" "1" "68904685" "68904685" "subst" "0" "01424" "RPE65_000053" "g.68904685T>C" "" "{PMID:Simonelli 2007:17724218}" "Tsp45I+;BccI-" "" "" "Germline" "yes" "" "0" "" "" "g.68439002T>C" "" "likely pathogenic (recessive)" "" "0000082456" "3" "77" "1" "68904684" "68904684" "subst" "4.06233E-6" "01424" "RPE65_000052" "g.68904684A>T" "2/222 chromosomes" "{PMID:Verma 2013:24066033}" "MmeI+;BccI-" "" "" "Germline" "yes" "" "0" "" "" "g.68439001A>T" "" "likely pathogenic (recessive)" "" "0000082457" "0" "55" "1" "68914297" "68914297" "subst" "0" "01424" "RPE65_000146" "g.68914297T>C" "" "{PMID:Henderson 2007:18055820}" "-" "" "intronic variant, uncertain pathogenicity; unknown variant 2ndchromosome\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.68448614T>C" "" "VUS" "" "0000082458" "3" "99" "1" "68912544" "68912544" "subst" "0" "01424" "RPE65_000116" "g.68912544C>T" "16/440 chromosomes" "{PMID:Kabir 2013:23878505}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446861C>T" "" "pathogenic (recessive)" "" "0000082459" "3" "99" "1" "68912544" "68912544" "subst" "0" "01424" "RPE65_000116" "g.68912544C>T" "16/440 chromosomes" "{PMID:Kabir 2013:23878505}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446861C>T" "" "pathogenic (recessive)" "" "0000082460" "3" "99" "1" "68912544" "68912544" "subst" "0" "01424" "RPE65_000116" "g.68912544C>T" "16/440 chromosomes" "{PMID:Kabir 2013:23878505}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446861C>T" "" "pathogenic (recessive)" "" "0000082461" "3" "99" "1" "68912544" "68912544" "subst" "0" "01424" "RPE65_000116" "g.68912544C>T" "16/440 chromosomes" "{PMID:Kabir 2013:23878505}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446861C>T" "" "pathogenic (recessive)" "" "0000082462" "0" "99" "1" "68912545" "68912545" "subst" "0" "01424" "RPE65_000139" "g.68912545T>G" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68446862T>G" "" "pathogenic (recessive)" "" "0000082463" "0" "99" "1" "68912545" "68912545" "subst" "0" "01424" "RPE65_000139" "g.68912545T>G" "" "{PMID:Jacobson 2009:19117922}" "-" "" "" "Germline" "" "" "0" "" "" "g.68446862T>G" "" "pathogenic (recessive)" "" "0000082464" "0" "99" "1" "68912545" "68912545" "subst" "0" "01424" "RPE65_000139" "g.68912545T>G" "" "{PMID:Jacobson 2008:18539930}" "-" "" "" "Germline" "" "" "0" "" "" "g.68446862T>G" "" "pathogenic (recessive)" "" "0000082465" "0" "99" "1" "68912545" "68912545" "subst" "0" "01424" "RPE65_000139" "g.68912545T>G" "" "{PMID:Jacobson 2008:18539930}" "-" "" "" "Germline" "" "" "0" "" "" "g.68446862T>G" "" "pathogenic (recessive)" "" "0000082466" "0" "99" "1" "68912545" "68912545" "subst" "2.43698E-5" "01424" "RPE65_000141" "g.68912545T>A" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446862T>A" "" "pathogenic (recessive)" "" "0000082467" "0" "99" "1" "68912545" "68912545" "subst" "2.43698E-5" "01424" "RPE65_000141" "g.68912545T>A" "" "{PMID:Jacobson 2012:21911650}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446862T>A" "" "pathogenic (recessive)" "" "0000082468" "3" "99" "1" "68912545" "68912545" "subst" "2.43698E-5" "01424" "RPE65_000141" "g.68912545T>A" "" "{PMID:Simonelli 2007:17724218}" "?" "" "" "Germline" "yes" "" "0" "" "" "g.68446862T>A" "" "pathogenic (recessive)" "" "0000082469" "3" "99" "1" "68912545" "68912545" "subst" "2.43698E-5" "01424" "RPE65_000141" "g.68912545T>A" "" "{PMID:Hanein 2004:15024725}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446862T>A" "" "pathogenic (recessive)" "" "0000082470" "3" "77" "1" "68912546" "68912546" "subst" "0" "01424" "RPE65_000144" "g.68912546G>C" "8/362 chromosomes" "{PMID:Jakobsson 2014:24771178}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446863G>C" "" "likely pathogenic (recessive)" "" "0000082471" "3" "77" "1" "68912546" "68912546" "subst" "0" "01424" "RPE65_000144" "g.68912546G>C" "8/362 chromosomes" "{PMID:Jakobsson 2014:24771178}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446863G>C" "" "likely pathogenic (recessive)" "" "0000082472" "3" "77" "1" "68912546" "68912546" "subst" "0" "01424" "RPE65_000144" "g.68912546G>C" "8/362 chromosomes" "{PMID:Jakobsson 2014:24771178}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68446863G>C" "" "likely pathogenic (recessive)" "" "0000082473" "3" "77" "1" "68904671" "68904671" "subst" "4.06303E-6" "01424" "RPE65_000051" "g.68904671A>T" "" "{PMID:Philpa 2009:19431183}" "-" "" "not in 400 controls" "Germline" "yes" "" "0" "" "" "g.68438988A>T" "" "likely pathogenic (recessive)" "" "0000082474" "0" "77" "1" "68904671" "68904671" "subst" "4.06303E-6" "01424" "RPE65_000051" "g.68904671A>T" "" "{PMID:Stone 2007:17964524}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438988A>T" "" "likely pathogenic (recessive)" "" "0000082475" "0" "77" "1" "68912543" "68912543" "subst" "0" "01424" "RPE65_000115" "g.68912543C>A" "" "{PMID:Sitorus 2003:14611946}" "Hpy188III+;HpyCH4III+" "" "" "Germline" "yes" "" "0" "" "" "g.68446860C>A" "" "likely pathogenic (recessive)" "" "0000082476" "21" "99" "1" "68904662" "68904662" "dup" "0" "01424" "RPE65_000050" "g.68904662dup" "" "{PMID:Morimura 1998:9501220}" "-" "AAT to AAAT" "" "Germline" "yes" "" "0" "" "" "g.68438979dup" "" "pathogenic (recessive)" "" "0000082477" "0" "99" "1" "68904659" "68904660" "ins" "0" "01424" "RPE65_000110" "g.68904659_68904660insT" "1/110 cases" "{PMID:Galvin 2005:16205573}" "-" "1 bp ins 321" "" "Germline" "yes" "" "0" "" "" "g.68438976_68438977insT" "" "pathogenic (recessive)" "" "0000082478" "0" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Philpa 2009:19431183}" "-" "" "unknown variant 2ndchromosome" "Germline" "" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082479" "0" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Bereta 2008:18722466}" "-" "" "unlikely pathogenic; unknown variant 2ndchromosome" "Germline" "yes" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082480" "3" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:den Hollander 2007:18055821}" "-" "" "unlikely pathogenic" "Germline" "yes" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082481" "0" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Vallespin 2007:18055816}" "-" "" "unlikely pathogenic; unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082482" "3" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Joseph 2002:12357075}" "-" "Nucleotide 1017 (AAT->AAG)" "unlikely pathogenic" "De novo" "yes" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082483" "0" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Simovich 2001:11462243}" "-" "" "unlikely pathogenic" "Germline" "yes" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082484" "0" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Thompson 2000:11095629}" "-" "1017T->G" "unlikely pathogenic; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082485" "3" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Henderson 2007:18055820}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082486" "1" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "" "{PMID:Wang 2014:25097241}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082487" "0" "11" "1" "68904660" "68904660" "subst" "0.0052857" "01424" "RPE65_000013" "g.68904660A>C" "1/400 controls" "{PMID:Philpa 2009:19431183}" "-" "" "" "Germline" "" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000082488" "3" "99" "1" "68912523" "68912542" "del" "0" "01424" "RPE65_000113" "g.68912523_68912542del" "" "{PMID:Jacobson 2009:19117922}" ";DpnII-;HphI-;MboI-;MnlI-;NlaIV-;Sau3AI-" "97del20bp" "" "Germline" "" "" "0" "" "" "g.68446840_68446859del" "" "pathogenic (recessive)" "" "0000082489" "3" "77" "1" "68904634" "68904634" "subst" "4.06246E-6" "01424" "RPE65_000108" "g.68904634C>T" "" "{PMID:Perrault 1999:10090910}, {PMID:Porto 2002:12124981}, {PMID:Koenekoop 2003:12789577}" "BsrI+;ApeKI-;BbvI-;Fnu4HI-;TseI-" "G1043A" "" "Germline" "" "" "0" "" "" "g.68438951C>T" "" "likely pathogenic (recessive)" "" "0000082490" "3" "77" "1" "68904634" "68904634" "subst" "4.06246E-6" "01424" "RPE65_000108" "g.68904634C>T" "" "{PMID:Perrault 1999:10090910}" "BsrI+;ApeKI-;BbvI-;Fnu4HI-;TseI-" "1043G>A" "" "Germline" "yes" "" "0" "" "" "g.68438951C>T" "" "likely pathogenic (recessive)" "" "0000082492" "3" "77" "1" "68904634" "68904634" "subst" "4.06246E-6" "01424" "RPE65_000108" "g.68904634C>T" "" "{PMID:Hanein 2004:15024725}" "BsrI+;ApeKI-;BbvI-;Fnu4HI-;TseI-" "" "" "Germline" "" "" "0" "" "" "g.68438951C>T" "" "likely pathogenic (recessive)" "" "0000082493" "0" "77" "1" "68904630" "68904632" "dup" "0" "01424" "RPE65_000105" "g.68904630_68904632dup" "2/91 cases" "{PMID:Coppieters 2010:20683928}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438947_68438949dup" "" "likely pathogenic (recessive)" "" "0000082494" "3" "77" "1" "68904630" "68904632" "dup" "0" "01424" "RPE65_000105" "g.68904630_68904632dup" "2/91 cases" "{PMID:Coppieters 2010:20683928}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438947_68438949dup" "" "likely pathogenic (recessive)" "" "0000082495" "3" "77" "1" "68904630" "68904632" "dup" "0" "01424" "RPE65_000105" "g.68904630_68904632dup" "" "{PMID:Coppieters 2012:22261762}" "-" "" "" "Germline" "yes" "" "0" "" "" "g.68438947_68438949dup" "" "likely pathogenic (recessive)" "" "0000082496" "3" "99" "1" "68904630" "68904630" "subst" "0" "01424" "RPE65_000104" "g.68904630C>T" "2/14 chromosomes" "{PMID:Koenekoop 2014:25030840}" "LpnPI-" "" "" "Germline" "yes" "" "0" "" "" "g.68438947C>T" "" "pathogenic (recessive)" "" "0000082497" "0" "77" "1" "68904626" "68904626" "subst" "0" "01424" "RPE65_000016" "g.68904626C>G" "1/87 cases" "{PMID:Li 2011:21602930}, {PMID:Li 2029:31273949}" "-" "" "not in 96 controls" "Germline" "yes" "" "0" "" "" "g.68438943C>G" "" "likely pathogenic (recessive)" "" "0000158323" "3" "90" "1" "68912544" "68912544" "subst" "0" "01769" "RPE65_000116" "g.68912544C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68446861C>T" "" "pathogenic (recessive)" "" "0000162780" "1" "90" "1" "68904660" "68904660" "subst" "0.0052857" "01769" "RPE65_000013" "g.68904660A>C" "" "{PMID:Li 2017:28418496}" "" "963T>G;782T>C" "" "Germline" "yes" "" "0" "" "" "g.68438977A>C" "" "pathogenic (recessive)" "" "0000162781" "2" "90" "1" "68904950" "68904950" "subst" "4.06597E-6" "01769" "RPE65_000158" "g.68904950A>G" "" "{PMID:Li 2017:28418496}" "" "963T>G;782T>C" "" "Germline" "yes" "" "0" "" "" "g.68439267A>G" "" "pathogenic (recessive)" "" "0000162794" "3" "90" "1" "68912459" "68912459" "subst" "4.06108E-6" "01769" "RPE65_000043" "g.68912459A>G" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68446776A>G" "" "pathogenic (recessive)" "" "0000162813" "3" "90" "1" "68912519" "68912519" "subst" "0" "01769" "RPE65_000156" "g.68912519C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68446836C>T" "" "pathogenic (recessive)" "" "0000162814" "3" "90" "1" "68910354" "68910354" "del" "0" "01769" "RPE65_000157" "g.68910354del" "" "{PMID:Li 2017:28418496}" "" "361delT" "" "Germline" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000162820" "3" "90" "1" "68903911" "68903911" "subst" "1.62541E-5" "01769" "RPE65_000099" "g.68903911G>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "rs121917744" "0" "" "" "g.68438228G>T" "" "pathogenic (recessive)" "" "0000245402" "0" "10" "1" "68904660" "68904660" "subst" "0.0052857" "02330" "RPE65_000013" "g.68904660A>C" "" "" "" "RPE65(NM_000329.2):c.963T>G (p.N321K, p.(Asn321Lys)), RPE65(NM_000329.3):c.963T>G (p.N321K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68438977A>C" "" "benign" "" "0000254161" "0" "30" "1" "68904660" "68904660" "subst" "0.0052857" "01943" "RPE65_000013" "g.68904660A>C" "" "" "" "RPE65(NM_000329.2):c.963T>G (p.N321K, p.(Asn321Lys)), RPE65(NM_000329.3):c.963T>G (p.N321K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68438977A>C" "" "likely benign" "" "0000294992" "0" "10" "1" "68897242" "68897242" "subst" "0.00197427" "02330" "RPE65_000161" "g.68897242C>T" "" "" "" "RPE65(NM_000329.2):c.1155G>A (p.T385=), RPE65(NM_000329.3):c.1155G>A (p.T385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68431559C>T" "" "benign" "" "0000294993" "0" "50" "1" "68896844" "68896844" "subst" "0" "02330" "RPE65_000159" "g.68896844C>T" "" "" "" "RPE65(NM_000329.3):c.1354G>A (p.V452I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68431161C>T" "" "VUS" "" "0000294994" "0" "50" "1" "68910537" "68910537" "subst" "0" "02330" "RPE65_000164" "g.68910537G>T" "" "" "" "RPE65(NM_000329.3):c.275C>A (p.A92E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444854G>T" "" "VUS" "" "0000294995" "0" "10" "1" "68910315" "68910315" "subst" "0.00294476" "02330" "RPE65_000064" "g.68910315C>T" "" "" "" "RPE65(NM_000329.3):c.394G>A (p.A132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444632C>T" "" "benign" "" "0000294996" "0" "50" "1" "68910276" "68910276" "subst" "0.000113719" "02330" "RPE65_000163" "g.68910276C>T" "" "" "" "RPE65(NM_000329.3):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444593C>T" "" "VUS" "" "0000294997" "0" "10" "1" "68910268" "68910268" "subst" "0.0005239" "02330" "RPE65_000162" "g.68910268T>C" "" "" "" "RPE65(NM_000329.3):c.441A>G (p.T147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444585T>C" "" "benign" "" "0000307308" "0" "30" "1" "68897242" "68897242" "subst" "0.00197427" "01943" "RPE65_000161" "g.68897242C>T" "" "" "" "RPE65(NM_000329.2):c.1155G>A (p.T385=), RPE65(NM_000329.3):c.1155G>A (p.T385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68431559C>T" "" "likely benign" "" "0000307309" "0" "30" "1" "68897001" "68897001" "subst" "0.00214578" "01943" "RPE65_000160" "g.68897001C>G" "" "" "" "RPE65(NM_000329.2):c.1302G>C (p.A434=), RPE65(NM_000329.3):c.1302G>C (p.A434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68431318C>G" "" "likely benign" "" "0000307310" "0" "50" "1" "68912414" "68912414" "subst" "5.28035E-5" "01943" "RPE65_000165" "g.68912414C>T" "" "" "" "RPE65(NM_000329.2):c.224G>A (p.G75E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68446731C>T" "" "VUS" "" "0000307311" "0" "50" "1" "68910517" "68910517" "subst" "0.000251957" "01943" "RPE65_000079" "g.68910517C>T" "" "" "" "RPE65(NM_000329.2):c.295G>A (p.V99I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444834C>T" "" "VUS" "" "0000338636" "0" "90" "1" "68896964" "68896964" "subst" "1.63014E-5" "02327" "RPE65_000167" "g.68896964C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68431281C>A" "" "pathogenic" "" "0000341174" "0" "70" "1" "68910276" "68910276" "subst" "0" "02327" "RPE65_000170" "g.68910276C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444593C>G" "" "likely pathogenic" "" "0000341175" "0" "50" "1" "68910276" "68910276" "subst" "0.000113719" "02327" "RPE65_000163" "g.68910276C>T" "" "" "" "RPE65(NM_000329.3):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444593C>T" "" "VUS" "" "0000343482" "0" "90" "1" "68910541" "68910541" "subst" "5.28498E-5" "02327" "RPE65_000003" "g.68910541G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444858G>A" "" "pathogenic" "" "0000345375" "0" "10" "1" "68903942" "68903942" "subst" "0.153297" "02327" "RPE65_000168" "g.68903942C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68438259C>T" "" "benign" "" "0000349289" "0" "50" "1" "68910263" "68910263" "subst" "0" "02327" "RPE65_000169" "g.68910263G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68444580G>T" "" "VUS" "" "0000350059" "0" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "02327" "RPE65_000001" "g.68903896A>G" "" "" "" "RPE65(NM_000329.3):c.1102T>C (p.Y368H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "" "0000351346" "0" "10" "1" "68896945" "68896945" "subst" "0.065799" "02327" "RPE65_000166" "g.68896945T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68431262T>G" "" "benign" "" "0000351347" "0" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "02327" "RPE65_000058" "g.68915573C>T" "" "" "" "RPE65(NM_000329.3):c.11+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic" "" "0000358331" "0" "70" "1" "68897002" "68897002" "subst" "0" "01243" "RPE65_000171" "g.68897002G>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.68431319G>T" "" "likely pathogenic (recessive)" "" "0000358332" "3" "70" "1" "68905247" "68905247" "subst" "0" "01243" "RPE65_000172" "g.68905247T>A" "" "{PMID:Kimchi 2018:29276052}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.68439564T>A" "" "likely pathogenic (recessive)" "" "0000358333" "3" "70" "1" "68912411" "68912411" "subst" "0" "01243" "RPE65_000173" "g.68912411T>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.68446728T>G" "" "likely pathogenic (recessive)" "" "0000358334" "3" "90" "1" "68912545" "68912545" "subst" "2.43698E-5" "01243" "RPE65_000141" "g.68912545T>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.68446862T>A" "" "pathogenic (recessive)" "" "0000358452" "0" "90" "1" "68912545" "68912545" "subst" "2.43698E-5" "01243" "RPE65_000141" "g.68912545T>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.68446862T>A" "" "pathogenic (recessive)" "" "0000438680" "1" "90" "1" "68910480" "68910480" "subst" "0" "01244" "RPE65_000175" "g.68910480G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68444797G>T" "" "pathogenic (recessive)" "" "0000438681" "2" "90" "1" "68895612" "68895612" "del" "0" "01244" "RPE65_000174" "g.68895612del" "" "" "" "1451-2delA" "" "Germline" "" "" "0" "" "" "g.68429929del" "" "pathogenic (recessive)" "" "0000440117" "0" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440118" "0" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440119" "21" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440120" "0" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440842" "21" "70" "1" "68905251" "68905251" "subst" "3.65672E-5" "02959" "RPE65_000178" "g.68905251C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68439568C>A" "000803383" "likely pathogenic (recessive)" "" "0000440843" "11" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440844" "11" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440845" "21" "70" "1" "68905251" "68905251" "subst" "3.65672E-5" "02959" "RPE65_000178" "g.68905251C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68439568C>A" "000803383" "likely pathogenic (recessive)" "" "0000440846" "3" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440847" "0" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440848" "0" "90" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "pathogenic (recessive)" "" "0000440849" "0" "70" "1" "68910290" "68910290" "subst" "1.62456E-5" "02959" "RPE65_000179" "g.68910290C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444607C>T" "000803384" "likely pathogenic (recessive)" "" "0000440850" "0" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440851" "21" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440852" "21" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440853" "3" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440854" "21" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440855" "0" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440856" "21" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440857" "0" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68446713C>A" "000803387" "likely pathogenic" "" "0000440858" "0" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440859" "0" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440860" "3" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440861" "21" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440862" "0" "70" "1" "68910290" "68910290" "subst" "1.62456E-5" "02959" "RPE65_000179" "g.68910290C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444607C>T" "000803384" "likely pathogenic (recessive)" "" "0000440863" "3" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440864" "3" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431282C>A" "000803382" "likely pathogenic" "" "0000440865" "3" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440866" "21" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440867" "11" "70" "1" "68910354" "68910354" "dup" "0" "02959" "RPE65_000073" "g.68910354dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444671dup" "000803385" "likely pathogenic (recessive)" "" "0000440868" "21" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440869" "11" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440870" "21" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440871" "11" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440872" "0" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440873" "0" "90" "1" "68910290" "68910290" "subst" "1.62456E-5" "02959" "RPE65_000179" "g.68910290C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444607C>T" "000803384" "pathogenic (recessive)" "" "0000440874" "21" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440875" "0" "70" "1" "68910503" "68910522" "del" "0" "02959" "RPE65_000028" "g.68910503_68910522del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444820_68444839del" "000803386" "likely pathogenic (recessive)" "" "0000440876" "3" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440877" "3" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "02959" "RPE65_000176" "g.68896965C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68431282C>A" "000803382" "likely pathogenic (recessive)" "" "0000440878" "3" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440879" "3" "70" "1" "68912396" "68912396" "subst" "4.87464E-5" "02959" "RPE65_000177" "g.68912396C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68446713C>A" "000803387" "likely pathogenic (recessive)" "" "0000440880" "3" "70" "1" "68910290" "68910290" "subst" "1.62456E-5" "02959" "RPE65_000179" "g.68910290C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.68444607C>T" "000803384" "likely pathogenic (recessive)" "" "0000475703" "0" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "02591" "RPE65_000121" "g.68895518G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs121917745" "0" "" "" "g.68429835G>A" "" "pathogenic" "" "0000475704" "0" "50" "1" "68896778" "68896778" "subst" "0" "02591" "RPE65_000180" "g.68896778A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.68431095A>C" "" "VUS" "" "0000475705" "0" "50" "1" "68896790" "68896790" "subst" "0" "02591" "RPE65_000181" "g.68896790G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.68431107G>A" "" "VUS" "" "0000475706" "0" "50" "1" "68897159" "68897159" "subst" "8.95889E-5" "02591" "RPE65_000182" "g.68897159C>T" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200950327" "0" "" "" "g.68431476C>T" "" "VUS" "" "0000475707" "0" "50" "1" "68897243" "68897243" "subst" "0.000240693" "02591" "RPE65_000183" "g.68897243G>A" "11/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201379753" "0" "" "" "g.68431560G>A" "" "VUS" "" "0000475708" "0" "50" "1" "68905244" "68905244" "subst" "0" "02591" "RPE65_000184" "g.68905244C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs868562244" "0" "" "" "g.68439561C>T" "" "VUS" "" "0000475709" "0" "50" "1" "68905260" "68905260" "subst" "0" "02591" "RPE65_000185" "g.68905260G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.68439577G>A" "" "VUS" "" "0000475710" "0" "50" "1" "68905286" "68905286" "subst" "0" "02591" "RPE65_000186" "g.68905286T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.68439603T>G" "" "VUS" "" "0000475711" "0" "50" "1" "68910332" "68910332" "subst" "0" "02591" "RPE65_000187" "g.68910332A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.68444649A>G" "" "VUS" "" "0000475712" "0" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "02591" "RPE65_000011" "g.68910339G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61752877" "0" "" "" "g.68444656G>A" "" "pathogenic" "" "0000475713" "0" "50" "1" "68910495" "68910495" "subst" "4.06306E-6" "02591" "RPE65_000188" "g.68910495C>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs142052358" "0" "" "" "g.68444812C>T" "" "VUS" "" "0000475714" "0" "50" "1" "68912414" "68912414" "subst" "5.28035E-5" "02591" "RPE65_000165" "g.68912414C>T" "17/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201062742" "0" "" "" "g.68446731C>T" "" "VUS" "" "0000477400" "3" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "02591" "RPE65_000121" "g.68895518G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs121917745" "0" "" "" "g.68429835G>A" "" "pathogenic" "" "0000487575" "3" "70" "1" "68910304" "68910304" "subst" "0" "03335" "RPE65_000189" "g.68910304A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68444621A>T" "" "likely pathogenic (recessive)" "" "0000487576" "21" "90" "1" "68914341" "68914341" "del" "0" "03335" "RPE65_000192" "g.68914341del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68448658del" "" "pathogenic (recessive)" "" "0000487577" "11" "70" "1" "68910323" "68910323" "subst" "4.06177E-6" "03335" "RPE65_000190" "g.68910323G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68444640G>A" "" "likely pathogenic (recessive)" "" "0000487578" "0" "90" "1" "68912448" "68912448" "del" "0" "03335" "RPE65_000191" "g.68912448del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68446765del" "" "pathogenic (recessive)" "" "0000508273" "0" "30" "1" "68896803" "68896803" "subst" "0" "01943" "RPE65_000193" "g.68896803T>C" "" "" "" "RPE65(NM_000329.2):c.1395A>G (p.S465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68431120T>C" "" "likely benign" "" "0000508274" "0" "50" "1" "68896967" "68896967" "subst" "4.07395E-6" "02330" "RPE65_000194" "g.68896967T>C" "" "" "" "RPE65(NM_000329.3):c.1336A>G (p.R446G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68431284T>C" "" "VUS" "" "0000508275" "0" "50" "1" "68897177" "68897177" "subst" "8.14346E-6" "02330" "RPE65_000106" "g.68897177A>G" "" "" "" "RPE65(NM_000329.3):c.1220T>C (p.V407A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68431494A>G" "" "VUS" "" "0000508276" "0" "90" "1" "68905254" "68905254" "subst" "4.06279E-6" "02327" "RPE65_000004" "g.68905254A>C" "" "" "" "RPE65(NM_000329.3):c.715T>G (p.Y239D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68439571A>C" "" "pathogenic" "" "0000508277" "0" "30" "1" "68905293" "68905293" "subst" "4.06237E-5" "01804" "RPE65_000195" "g.68905293C>T" "" "" "" "RPE65(NM_000329.2):c.676G>A (p.(Val226Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68439610C>T" "" "likely benign" "" "0000508278" "0" "30" "1" "68905311" "68905311" "subst" "0.000105627" "01943" "RPE65_000196" "g.68905311T>C" "" "" "" "RPE65(NM_000329.2):c.658A>G (p.I220V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68439628T>C" "" "likely benign" "" "0000508279" "0" "50" "1" "68910303" "68910303" "subst" "8.12321E-6" "01943" "RPE65_000126" "g.68910303C>A" "" "" "" "RPE65(NM_000329.2):c.406G>T (p.V136F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68444620C>A" "" "VUS" "" "0000508280" "0" "30" "1" "68912536" "68912536" "subst" "0.000304593" "01943" "RPE65_000197" "g.68912536G>T" "" "" "" "RPE65(NM_000329.2):c.102C>A (p.I34=), RPE65(NM_000329.3):c.102C>A (p.I34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68446853G>T" "" "likely benign" "" "0000508281" "0" "30" "1" "68912553" "68912553" "subst" "7.71856E-5" "01943" "RPE65_000198" "g.68912553A>T" "" "" "" "RPE65(NM_000329.2):c.95-10T>A, RPE65(NM_000329.3):c.95-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68446870A>T" "" "likely benign" "" "0000508282" "0" "10" "1" "68914353" "68914353" "subst" "0.000422689" "02330" "RPE65_000199" "g.68914353A>G" "" "" "" "RPE65(NM_000329.2):c.48T>C (p.F16=), RPE65(NM_000329.3):c.48T>C (p.F16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68448670A>G" "" "benign" "" "0000508283" "0" "30" "1" "68914353" "68914353" "subst" "0.000422689" "01943" "RPE65_000199" "g.68914353A>G" "" "" "" "RPE65(NM_000329.2):c.48T>C (p.F16=), RPE65(NM_000329.3):c.48T>C (p.F16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68448670A>G" "" "likely benign" "" "0000604550" "11" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "03508" "RPE65_000121" "g.68895518G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000604551" "21" "70" "1" "68903938" "68903938" "dup" "0" "03508" "RPE65_000044" "g.68903938dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000605917" "0" "10" "1" "68910277" "68910277" "subst" "0.000905694" "02330" "RPE65_000200" "g.68910277G>A" "" "" "" "RPE65(NM_000329.3):c.432C>T (p.Y144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68444594G>A" "" "benign" "" "0000605918" "0" "10" "1" "68910310" "68910310" "subst" "0.00162065" "02330" "RPE65_000201" "g.68910310A>G" "" "" "" "RPE65(NM_000329.3):c.399T>C (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68444627A>G" "" "benign" "" "0000605919" "0" "50" "1" "68912430" "68912430" "subst" "0" "02327" "RPE65_000002" "g.68912430A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68446747A>C" "" "VUS" "" "0000647770" "1" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "03575" "RPE65_000121" "g.68895518G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121917745}" "Germline" "" "rs121917745" "0" "" "" "g.68429835G>A" "" "likely pathogenic" "" "0000647771" "1" "90" "1" "68897011" "68897011" "subst" "4.071E-6" "03575" "RPE65_000090" "g.68897011T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs62636300}" "Germline" "" "rs62636300" "0" "" "" "g.68431328T>C" "" "pathogenic" "" "0000647772" "1" "90" "1" "68910541" "68910541" "subst" "5.28498E-5" "03575" "RPE65_000003" "g.68910541G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs61752871}" "Germline" "" "rs61752871" "0" "" "" "g.68444858G>A" "" "pathogenic" "" "0000654104" "0" "10" "1" "68897001" "68897001" "subst" "0.00214578" "02330" "RPE65_000160" "g.68897001C>G" "" "" "" "RPE65(NM_000329.2):c.1302G>C (p.A434=), RPE65(NM_000329.3):c.1302G>C (p.A434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68431318C>G" "" "benign" "" "0000675921" "0" "30" "1" "68912521" "68912521" "subst" "0.000121832" "01943" "RPE65_000202" "g.68912521G>A" "" "" "" "RPE65(NM_000329.2):c.117C>T (p.T39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684573" "1" "70" "1" "68915579" "68915579" "del" "2.03117E-5" "00004" "RPE65_000205" "g.68915579del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.10delC" "" "Germline" "" "" "0" "" "" "g.68449896del" "" "likely pathogenic" "" "0000684574" "1" "70" "1" "68905253" "68905253" "dup" "0" "00004" "RPE65_000203" "g.68905253dup" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.68439570dup" "" "likely pathogenic" "" "0000684653" "3" "70" "1" "68915576" "68915576" "subst" "8.12473E-6" "00004" "RPE65_000204" "g.68915576A>C" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.68449893A>C" "" "likely pathogenic (recessive)" "" "0000685436" "0" "90" "1" "68905247" "68905247" "subst" "0" "00004" "RPE65_000172" "g.68905247T>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685437" "0" "90" "1" "68912411" "68912411" "subst" "0" "00004" "RPE65_000173" "g.68912411T>G" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685438" "0" "90" "1" "68912545" "68912545" "subst" "2.43698E-5" "00004" "RPE65_000141" "g.68912545T>A" "14/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685439" "0" "90" "1" "68912545" "68912545" "subst" "2.43698E-5" "00004" "RPE65_000141" "g.68912545T>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000688236" "0" "30" "1" "68897203" "68897203" "subst" "0.000236268" "01943" "RPE65_000206" "g.68897203G>A" "" "" "" "RPE65(NM_000329.2):c.1194C>T (p.D398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710250" "1" "90" "1" "68912448" "68912448" "del" "0" "00006" "RPE65_000191" "g.68912448del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "190delC" "ACMG PVS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.68446765del" "" "pathogenic" "ACMG" "0000710256" "1" "70" "1" "68910323" "68910323" "subst" "4.06177E-6" "00006" "RPE65_000190" "g.68910323G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM2, PM3, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.68444640G>A" "" "likely pathogenic" "ACMG" "0000710272" "3" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00006" "RPE65_000011" "g.68910339G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.68444656G>A" "" "pathogenic" "" "0000710279" "3" "90" "1" "68912545" "68912545" "subst" "2.43698E-5" "00006" "RPE65_000141" "g.68912545T>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.68446862T>A" "" "pathogenic" "" "0000710287" "3" "70" "1" "68910304" "68910304" "subst" "0" "00006" "RPE65_000189" "g.68910304A>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM2, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.68444621A>T" "" "likely pathogenic" "ACMG" "0000710305" "1" "90" "1" "68912507" "68912507" "subst" "4.06088E-5" "00006" "RPE65_000036" "g.68912507C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "pathogenic" "" "0000710343" "2" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00006" "RPE65_000058" "g.68915573C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic" "" "0000710345" "2" "90" "1" "68903938" "68903938" "dup" "0" "00006" "RPE65_000044" "g.68903938dup" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "1067dupA" "" "Germline" "" "" "0" "" "" "g.68438255dup" "" "pathogenic" "" "0000710360" "2" "90" "1" "68914341" "68914341" "del" "0" "00006" "RPE65_000192" "g.68914341del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "61delG" "ACMG PVS1, PM2, PM3, PP2, PP4" "Germline" "" "" "0" "" "" "g.68448658del" "" "pathogenic" "ACMG" "0000711704" "1" "70" "1" "68904660" "68904660" "subst" "0.0052857" "00008" "RPE65_000013" "g.68904660A>C" "" "{PMID:Mandal 2005:16123440}" "" "T963G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000712556" "0" "90" "1" "68896768" "68896768" "subst" "0" "03980" "RPE65_000017" "g.68896768T>C" "" "Doucette 2021, submitted" "" "" "" "Germline" "?" "rs1571158279" "0" "" "" "" "{CV:750796}" "pathogenic (dominant)" "" "0000713659" "0" "90" "1" "68914327" "68914327" "subst" "1.219E-5" "00000" "RPE65_000150" "g.68914327G>A" "" "{PMID:Carss 2017:28041643}" "" "1:68914327G>A ENST00000262340.5:c.74C>T (Pro25Leu)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713897" "0" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Carss 2017:28041643}" "" "1:68915573C>T ENST00000262340.5:c.11+5G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714414" "3" "90" "1" "68910246" "68910249" "del" "0" "00006" "RPE65_000207" "g.(68910246_68910249del)" "" "{PMID:Aguirre 1998:9808841}, {PMID:Veske 1999:10191083}" "" "delAAGA" "" "animal model" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714415" "3" "70" "1" "68896850" "68896850" "subst" "0" "00006" "RPE65_000208" "g.68896850G>T" "" "{PMID:Wenzel 2001:11150319}, {PMID:Nusinowitz 2003:14550405}" "" "" "" "animal model" "yes" "" "0" "" "" "" "" "association" "" "0000714416" "0" "90" "1" "68906640" "68906641" "delins" "0" "00000" "RPE65_000223" "g.(68906640_68906641delinsGC)" "" "{PMID:Redmond 2005:16150724}" "" "H180A" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68440957_68440958delinsGC)" "" "NA" "" "0000714417" "0" "90" "1" "68905247" "68905248" "delins" "0" "00000" "RPE65_000219" "g.(68905247_68905248delinsGC)" "" "{PMID:Redmond 2005:16150724}" "" "H241A" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68439564_68439565delinsGC)" "" "NA" "" "0000714418" "0" "90" "1" "68904685" "68904686" "delins" "0" "00000" "RPE65_000218" "g.(68904685_68904686delinsGC)" "" "{PMID:Redmond 2005:16150724}" "" "H313A" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68439002_68439003delinsGC)" "" "NA" "" "0000714419" "0" "90" "1" "68895480" "68895481" "delins" "0" "00000" "RPE65_000210" "g.(68895480_68895481delinsGCg.(68895481_68895482delinsGC)" "" "{PMID:Redmond 2005:16150724}" "" "H527A" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68429798_68429799delinsGC)" "" "NA" "" "0000714420" "0" "90" "1" "68897053" "68897053" "subst" "0" "00000" "RPE65_000211" "g.(68897053T>G)" "" "{PMID:Redmond 2005:16150724}" "" "E417A" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68431370T>G)" "" "NA" "" "0000714421" "0" "70" "1" "68905278" "68905278" "subst" "0" "00000" "RPE65_000221" "g.(68905278A>T)" "" "{PMID:Redmond 2005:16150724}" "" "C231S" "expression cloning activity 0.55" "In vitro (cloned)" "" "" "0" "" "" "g.(68439595A>T)" "" "NA" "" "0000714422" "0" "90" "1" "68904638" "68904638" "subst" "0" "00000" "RPE65_000217" "g.(68904638A>T)" "" "{PMID:Redmond 2005:16150724}" "" "C329S" "expression cloning activity 0.26" "In vitro (cloned)" "" "" "0" "" "" "g.(68438955A>T)" "" "NA" "" "0000714423" "0" "90" "1" "68905277" "68905277" "subst" "0" "00000" "RPE65_000220" "g.(68905277C>G)" "" "{PMID:Redmond 2005:16150724}" "" "C231S" "expression cloning activity 0.55" "In vitro (cloned)" "" "" "0" "" "" "g.(68439594C>G)" "" "NA" "" "0000714424" "0" "70" "1" "68904637" "68904637" "subst" "0" "00000" "RPE65_000216" "g.(68904637C>G)" "" "{PMID:Redmond 2005:16150724}" "" "C329S" "expression cloning activity 0.26" "In vitro (cloned)" "" "" "0" "" "" "g.(68438954C>G)" "" "NA" "" "0000714425" "0" "50" "1" "68904634" "68904635" "delins" "0" "00000" "RPE65_000213" "g.(68904634_68904635delinsGT)" "" "{PMID:Redmond 2005:16150724}" "" "C330T" "expression cloning activity 0.83" "In vitro (cloned)" "" "" "0" "" "" "g.(68438951_68438952delinsGT)" "" "NA" "" "0000714426" "0" "90" "1" "68904634" "68904638" "delins" "0" "00000" "RPE65_000214" "g.(68904634_68904638delinsCTGCT)" "" "{PMID:Redmond 2005:16150724}" "" "CC329-230SS" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68438951_68438955delinsCTGCT)" "" "NA" "" "0000714427" "0" "90" "1" "68904635" "68904637" "delins" "0" "00000" "RPE65_000215" "g.(68904635_68904637delinsTTG)" "" "{PMID:Redmond 2005:16150724}" "" "CC329-230SS" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68438952_68438954delinsTTG)" "" "NA" "" "0000714428" "0" "90" "1" "68912520" "68912520" "subst" "0" "00000" "RPE65_000049" "g.(68912520C>T)" "" "{PMID:Redmond 2005:16150724}" "" "G40S" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68446837C>T)" "" "NA" "" "0000714429" "0" "90" "1" "68912507" "68912507" "subst" "0" "00000" "RPE65_000036" "g.(68912507C>T)" "" "{PMID:Redmond 2005:16150724}" "" "R44Q" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68446824C>T)" "" "NA" "" "0000714430" "0" "90" "1" "68912436" "68912436" "subst" "0" "00000" "RPE65_000225" "g.(68912436G>A)" "" "{PMID:Redmond 2005:16150724}" "" "H68Y" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68446753G>A)" "" "NA" "" "0000714431" "0" "90" "1" "68912435" "68912436" "delins" "0" "00000" "RPE65_000224" "g.(68912435_68912436delinsGC)" "" "{PMID:Redmond 2005:16150724}" "" "H68A" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68446752_68446753delinsGC)" "" "NA" "" "0000714432" "0" "70" "1" "68910315" "68910315" "subst" "0" "00000" "RPE65_000064" "g.(68910315C>T)" "" "{PMID:Redmond 2005:16150724}" "" "A132T" "expression cloning activity 0.50" "In vitro (cloned)" "" "" "0" "" "" "g.(68444632C>T)" "" "NA" "" "0000714433" "0" "90" "1" "68906635" "68906635" "subst" "0" "00000" "RPE65_000026" "g.(68906635G>A)" "" "{PMID:Redmond 2005:16150724}" "" "H182Y" "expression cloning activity 0.10" "In vitro (cloned)" "" "" "0" "" "" "g.(68440952G>A)" "" "NA" "" "0000714434" "0" "90" "1" "68906634" "68906635" "delins" "0" "00000" "RPE65_000222" "g.(68906634_68906635delinsGC)" "" "{PMID:Redmond 2005:16150724}" "" "H182A" "expression cloning activity 0.10" "In vitro (cloned)" "" "" "0" "" "" "g.(68440951_68440952delinsGC)" "" "NA" "" "0000714435" "0" "90" "1" "68903896" "68903896" "subst" "0" "00000" "RPE65_000001" "g.(68903896A>G)" "" "{PMID:Redmond 2005:16150724}" "" "Y368H" "expression cloning activity <0.03" "In vitro (cloned)" "" "" "0" "" "" "g.(68438213A>G)" "" "NA" "" "0000714436" "0" "90" "1" "68897054" "68897054" "subst" "0" "00000" "RPE65_000100" "g.(68897054C>G)" "" "{PMID:Redmond 2005:16150724}" "" "E417Q" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68431371C>G)" "" "NA" "" "0000714437" "0" "90" "1" "68895478" "68895478" "subst" "0" "00000" "RPE65_000120" "g.(68895478C>A)" "" "{PMID:Redmond 2005:16150724}" "" "G528V" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68429795C>A)" "" "NA" "" "0000714438" "0" "90" "1" "68904742" "68904742" "subst" "0" "00000" "RPE65_000014" "g.(68904742T>G)" "" "{PMID:Redmond 2005:16150724}" "" "K294T" "expression cloning activity 0.16" "In vitro (cloned)" "" "" "0" "" "" "g.(68439059T>G)" "" "NA" "" "0000714439" "0" "90" "1" "68904634" "68904634" "subst" "0" "00000" "RPE65_000108" "g.(68904634C>T)" "" "{PMID:Redmond 2005:16150724}" "" "C330Y" "expression cloning activity <0.02" "In vitro (cloned)" "" "" "0" "" "" "g.(68438951C>T)" "" "NA" "" "0000714440" "0" "70" "1" "68897002" "68897002" "subst" "0" "00000" "RPE65_000089" "g.(68897002G>A)" "" "{PMID:Redmond 2005:16150724}" "" "A434V" "expression cloning activity 0.55" "In vitro (cloned)" "" "" "0" "" "" "g.(68431319G>A)" "" "NA" "" "0000714441" "0" "70" "1" "68903895" "68903895" "subst" "0" "00000" "RPE65_000212" "g.(68903895T>A)" "" "{PMID:Redmond 2005:16150724}" "" "Y368F" "expression cloning activity 0.56" "In vitro (cloned)" "" "" "0" "" "" "g.(68438212T>A)" "" "NA" "" "0000714442" "0" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Takahashi 2006:16754667}" "" "Y368H" "expression cloning abolished isomerohydrolase activity, reduced protein level, descreased protein stability, probably disrupted membrane association" "In vitro (cloned)" "" "" "0" "" "" "g.68438213A>G" "" "NA" "" "0000714443" "0" "90" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Takahashi 2006:16754667}" "" "R01W" "expression cloning abolished isomerohydrolase activity, reduced protein level, descreased protein stability, probably disrupted membrane association" "In vitro (cloned)" "" "" "0" "" "" "g.68444858G>A" "" "NA" "" "0000714444" "3" "90" "1" "68910541" "68910541" "subst" "0" "00006" "RPE65_000003" "g.(68910541G>A)" "" "{PMID:Samardzija 2008:17933883}" "" "" "knock-in mouse model" "animal model" "" "" "0" "" "" "g.(68444858G>A)" "" "pathogenic (recessive)" "" "0000714445" "11" "50" "1" "68912461" "68912461" "subst" "0" "00006" "RPE65_000045" "g.68912461G>C" "" "{PMID:Katagiri 2014:25495949}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000714446" "10" "90" "1" "68897174" "68897174" "subst" "0" "00006" "RPE65_000102" "g.68897174A>G" "" "{PMID:Tucker 2015:26364624}" "" "L408P" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714447" "21" "90" "1" "68910577" "68910577" "subst" "4.07262E-6" "00006" "RPE65_000209" "g.68910577T>C" "" "{PMID:Tucker 2015:26364624}" "" "IVS3-11A>G" "effect RNA analysed using IPS cells, RNA expression reduced" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714479" "1" "10" "1" "68905358" "68905358" "subst" "0.525508" "00000" "RPE65_000253" "g.68905358G>C" "" "{PMID:Marcos 2001:11295838}" "" "IVS6-33C>G" "" "Germline" "" "" "0" "" "" "g.68439675G>C" "" "benign" "" "0000714480" "1" "30" "1" "68905367" "68905367" "del" "0.000307362" "00000" "RPE65_000254" "g.68905367del" "" "{PMID:Marcos 2001:11295838}" "" "IVS6-42delT" "" "Germline" "" "" "0" "" "" "g.68439684del" "" "likely benign" "" "0000714481" "1" "30" "1" "68905377" "68905377" "del" "0" "00000" "RPE65_000255" "g.68905377del" "" "{PMID:Marcos 2001:11295838}" "" "IVS6-43delA" "" "Germline" "" "" "0" "" "" "g.68439694del" "" "likely benign" "" "0000714482" "1" "90" "1" "68903938" "68903938" "dup" "0" "00000" "RPE65_000044" "g.68903938dup" "" "{PMID:Hull 2016:26906952}" "" "1067dupA" "" "Germline" "" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000714483" "1" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Hull 2016:26906952}" "" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "" "0000714484" "1" "90" "1" "68910276" "68910276" "subst" "0.000113719" "00000" "RPE65_000163" "g.68910276C>T" "" "{PMID:Hull 2016:26906952}" "" "" "" "Germline" "" "" "0" "" "" "g.68444593C>T" "" "pathogenic (recessive)" "" "0000714485" "2" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Hull 2016:26906952}" "" "" "" "Germline" "" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000714486" "2" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Hull 2016:26906952}" "" "" "" "Germline" "" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "" "0000714487" "2" "90" "1" "68904743" "68904743" "dup" "0" "00000" "RPE65_000140" "g.68904743dup" "" "{PMID:Hull 2016:26906952}" "" "886dupA" "" "Germline" "" "" "0" "" "" "g.68439060dup" "" "pathogenic (recessive)" "" "0000714488" "1" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Hull 2016:27307694}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic (dominant)" "" "0000714489" "21" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Hull 2016:27307694}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic (dominant)" "" "0000714490" "11" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Hull 2016:27307694}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic (dominant)" "" "0000714491" "21" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Hull 2016:27307694}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic (dominant)" "" "0000714492" "11" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Hull 2016:27307694}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic (dominant)" "" "0000714493" "1" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.(68896768T>C)" "" "{PMID:Shin 2017:28041994}, {PMID:Choi 2018:29681726}" "" "" "knock-in mouse model" "animal model" "yes" "" "0" "" "" "g.(68431085T>C)" "" "pathogenic (dominant)" "" "0000714494" "3" "90" "1" "68897223" "68897223" "subst" "0" "00000" "RPE65_000241" "g.68897223T>G" "" "{PMID:Liu 2017:29133760}" "" "" "" "Germline" "" "" "0" "" "" "g.68431540T>G" "" "pathogenic (recessive)" "" "0000714495" "1" "90" "1" "68903938" "68903938" "dup" "0" "00000" "RPE65_000044" "g.68903938dup" "" "{PMID:Sanchez-Ramos 2017:29414951}" "" "1067insA" "" "Germline" "" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "" "0000714496" "2" "90" "1" "68905269" "68905269" "subst" "3.25013E-5" "00000" "RPE65_000065" "g.68905269G>A" "" "{PMID:Sanchez-Ramos 2017:29414951}" "" "" "" "Germline" "" "" "0" "" "" "g.68439586G>A" "" "pathogenic (recessive)" "" "0000714497" "1" "90" "1" "68906541" "68906541" "subst" "0" "00000" "RPE65_000256" "g.68906541T>G" "" "{PMID:Katagiri 2017:29681726}" "" "" "" "Germline" "" "rs886046510" "0" "" "" "g.68440858T>G" "" "pathogenic (recessive)" "" "0000714498" "1" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Katagiri 2017:29681726}" "" "" "" "Germline" "" "rs121917745" "0" "" "" "g.68429835G>A" "" "pathogenic (recessive)" "" "0000714499" "2" "90" "1" "68903970" "68903970" "subst" "0" "00000" "RPE65_000103" "g.68903970A>T" "" "{PMID:Katagiri 2017:29681726}" "" "" "" "Germline" "" "" "0" "" "" "g.68438287A>T" "" "pathogenic (recessive)" "" "0000714500" "2" "90" "1" "68906541" "68906541" "subst" "0" "00000" "RPE65_000256" "g.68906541T>G" "" "{PMID:Katagiri 2017:29681726}" "" "" "" "Germline" "" "rs886046510" "0" "" "" "g.68440858T>G" "" "pathogenic (recessive)" "" "0000714501" "1" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Jauregui 2019:29947567}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic (dominant)" "" "0000714502" "1" "90" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Zhong 2019:30996589}" "" "R91Q" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "pathogenic (recessive)" "" "0000714503" "3" "90" "1" "68910216" "68910216" "subst" "0" "00000" "RPE65_000259" "g.68910216G>A" "" "{PMID:Zhong 2019:30996589}" "" "Q165X" "" "Germline" "" "" "0" "" "" "g.68444533G>A" "" "pathogenic (recessive)" "" "0000714504" "3" "90" "1" "68910216" "68910216" "subst" "0" "00000" "RPE65_000259" "g.68910216G>A" "" "{PMID:Zhong 2019:30996589}" "" "Q165X" "" "Germline" "" "" "0" "" "" "g.68444533G>A" "" "pathogenic (recessive)" "" "0000714505" "3" "90" "1" "68914307" "68914307" "subst" "4.06405E-6" "00000" "RPE65_000227" "g.68914307C>A" "" "{PMID:Zhong 2019:30996589}" "" "G32C" "" "Germline" "" "" "0" "" "" "g.68448624C>A" "" "pathogenic (recessive)" "" "0000714506" "1" "90" "1" "68914307" "68914307" "subst" "4.06405E-6" "00000" "RPE65_000227" "g.68914307C>A" "" "{PMID:Zhong 2019:30996589}" "" "G32C" "" "Germline" "" "" "0" "" "" "g.68448624C>A" "" "pathogenic (recessive)" "" "0000714507" "1" "90" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Zhong 2019:30996589}" "" "R91Q" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "pathogenic (recessive)" "" "0000714508" "1" "90" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Zhong 2019:30996589}" "" "R91Q" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "pathogenic (recessive)" "" "0000714509" "1" "90" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Zhong 2019:30996589}" "" "L67R" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68446755A>C" "" "pathogenic (recessive)" "" "0000714510" "3" "90" "1" "68896965" "68896965" "subst" "1.22257E-5" "00000" "RPE65_000176" "g.68896965C>A" "" "{PMID:Zhong 2019:30996589}" "" "R446S" "effect on RNA predicted from expression cloning mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.68431282C>A" "" "pathogenic (recessive)" "" "0000714511" "1" "90" "1" "68912514" "68912514" "subst" "1.62435E-5" "00000" "RPE65_000271" "g.68912514G>A" "" "{PMID:Zhong 2019:30996589}" "" "L42F" "" "Germline" "" "" "0" "" "" "g.68446831G>A" "" "pathogenic (recessive)" "" "0000714512" "3" "90" "1" "68912489" "68912489" "subst" "0" "00000" "RPE65_000269" "g.68912489A>G" "" "{PMID:Zhong 2019:30996589}" "" "F50S" "" "Germline" "" "" "0" "" "" "g.68446806A>G" "" "pathogenic (recessive)" "" "0000714513" "3" "90" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Zhong 2019:30996589}" "" "R44X" "" "Germline" "" "" "0" "" "" "g.68446825G>A" "" "pathogenic (recessive)" "" "0000714514" "1" "90" "1" "68910472" "68910472" "subst" "0" "00000" "RPE65_000263" "g.68910472T>G" "" "{PMID:Zhong 2019:30996589}" "" "N14H" "" "Germline" "" "" "0" "" "" "g.68444789T>G" "" "pathogenic (recessive)" "" "0000714515" "1" "90" "1" "68896789" "68896789" "subst" "4.07279E-6" "00000" "RPE65_000128" "g.68896789G>A" "" "{PMID:Zhong 2019:30996589}" "" "P470L" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68431106G>A" "" "pathogenic (recessive)" "" "0000714516" "3" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Zhong 2019:30996589}" "" "R124X" "" "Germline" "" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000714517" "3" "90" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Zhong 2019:30996589}" "" "R44X" "" "Germline" "" "" "0" "" "" "g.68446825G>A" "" "pathogenic (recessive)" "" "0000714518" "1" "90" "1" "68896799" "68896799" "subst" "8.14385E-6" "00000" "RPE65_000236" "g.68896799G>C" "" "{PMID:Zhong 2019:30996589}" "" "P467A" "" "Germline" "" "" "0" "" "" "g.68431116G>C" "" "pathogenic (recessive)" "" "0000714519" "2" "90" "1" "68897216" "68897216" "dup" "0" "00000" "RPE65_000226" "g.68897216dup" "" "{PMID:Zhong 2019:30996589}" "" "1181_1182insT" "" "Germline" "" "" "0" "" "" "g.68431533dup" "" "pathogenic (recessive)" "" "0000714523" "2" "90" "1" "68904877" "68904877" "del" "0" "00000" "RPE65_000228" "g.68904877del" "" "{PMID:Zhong 2019:30996589}" "" "858+1delG" "effect on RNA predicted from expression cloning mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.68439194del" "" "pathogenic (recessive)" "" "0000714526" "2" "90" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Zhong 2019:30996589}" "" "R44X" "" "Germline" "" "" "0" "" "" "g.68446825G>A" "" "pathogenic (recessive)" "" "0000714527" "1" "90" "1" "68897002" "68897002" "subst" "0" "00000" "RPE65_000171" "g.68897002G>T" "" "{PMID:Li 2019:31273949}" "" "" "" "Germline" "" "" "0" "" "" "g.68431319G>T" "" "pathogenic (recessive)" "" "0000714528" "1" "90" "1" "68897002" "68897002" "subst" "0" "00000" "RPE65_000171" "g.68897002G>T" "" "{PMID:Li 2019:31273949}" "" "" "" "Germline" "" "" "0" "" "" "g.68431319G>T" "" "pathogenic (recessive)" "" "0000714529" "1" "90" "1" "68910275" "68910275" "subst" "0" "00000" "RPE65_000097" "g.68910275G>T" "" "{PMID:Li 2019:31273949}" "" "" "" "Germline" "" "" "0" "" "" "g.68444592G>T" "" "pathogenic 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"" "0000714750" "2" "90" "1" "68906680" "68906680" "subst" "1.22059E-5" "00000" "RPE65_000071" "g.68906680C>A" "" "{PMID:Pierrache 2020:32032261}" "" "" "" "Germline" "" "" "0" "" "" "g.68440997C>A" "" "pathogenic (recessive)" "" "0000714751" "2" "90" "1" "68904630" "68904632" "dup" "0" "00000" "RPE65_000105" "g.68904630_68904632dup" "" "{PMID:Pierrache 2020:32032261}" "" "" "" "Germline" "" "" "0" "" "" "g.68438947_68438949dup" "" "pathogenic (recessive)" "" "0000714752" "2" "90" "1" "68896964" "68896964" "subst" "0" "00000" "RPE65_000239" "g.68896964C>T" "" "{PMID:Owczarek-Lipska 2020:32367544}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431281C>T" "" "pathogenic (recessive)" "" "0000717683" "0" "30" "1" "68897004" "68897004" "subst" "8.14279E-6" "01943" "RPE65_000273" "g.68897004A>G" "" "" "" "RPE65(NM_000329.2):c.1299T>C (p.Y433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729764" "1" "70" "1" "68912461" "68912461" "subst" "0" "00000" "RPE65_000045" "g.68912461G>C" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "" "0" "" "" "g.68446778G>C" "" "likely pathogenic" "" "0000729789" "2" "70" "1" "68912520" "68912520" "subst" "2.03049E-5" "00000" "RPE65_000049" "g.68912520C>T" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs61751281" "0" "" "" "g.68446837C>T" "" "likely pathogenic" "" "0000731009" "3" "70" "1" "68903938" "68903938" "dup" "0" "00000" "RPE65_000044" "g.68903938dup" "" "{PMID:Bryant 2018:29343940}" "" "1067_1068insA" "" "Germline" "" "rs766074572" "0" "" "" "g.68438255dup" "" "likely pathogenic (recessive)" "" "0000731010" "1" "70" "1" "68897054" "68897054" "subst" "4.07246E-6" "00000" "RPE65_000100" "g.68897054C>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs62636299" "0" "" "" "g.68431371C>G" "" "likely pathogenic (recessive)" "" "0000731082" "2" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs62653011" "0" "" "" "g.68438213A>G" "" "likely pathogenic (recessive)" "" "0000731134" "3" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731135" "1" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731136" "3" "90" "1" "68906619" "68906619" "subst" "8.13359E-6" "00000" "RPE65_000287" "g.68906619C>T" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731164" "2" "90" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731258" "21" "70" "1" "68904667" "68904672" "del" "0" "00000" "RPE65_000275" "g.68904667_68904672del" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.68438984_68438989del" "" "likely pathogenic (recessive)" "" "0000731259" "2" "70" "1" "68903958" "68903958" "subst" "0" "00000" "RPE65_000274" "g.68903958C>G" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.68438275C>G" "" "likely pathogenic (recessive)" "" "0000731281" "11" "70" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.68446825G>A" "" "likely pathogenic (recessive)" "" "0000731282" "1" "70" "1" "68905007" "68905007" "subst" "0" "00000" "RPE65_000276" "g.68905007C>T" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.68439324C>T" "" "likely pathogenic (recessive)" "" "0000732426" "1" "90" "1" "68910501" "68910501" "subst" "0" "00000" "RPE65_000280" "g.68910501C>A" "" "{PMID:Villanueva 2018:28945494}" "" "" "" "Germline" "" "" "0" "" "" "g.68444818C>A" "" "pathogenic (recessive)" "" "0000732430" "2" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Villanueva 2018:28945494}" "" "" "" "Germline" "" "" "0" "" "" "g.68444656G>A" "" "pathogenic (recessive)" "" "0000732568" "3" "50" "1" "68904743" "68904743" "dup" "0" "00000" "RPE65_000140" "g.68904743dup" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.68439060dup" "" "VUS" "" "0000732674" "1" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "00000" "RPE65_000176" "g.68896965C>A" "" "{PMID:Soens 2017:28714225}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.68431282C>A" "" "likely pathogenic" "" "0000732675" "3" "70" "1" "68896965" "68896965" "subst" "1.22257E-5" "00000" "RPE65_000176" "g.68896965C>A" "" "{PMID:Soens 2017:28714225}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.68431282C>A" "" "likely pathogenic" "" "0000732682" "1" "70" "1" "68903897" "68903897" "subst" "0" "00000" "RPE65_000278" "g.68903897T>C" "" "{PMID:Soens 2017:28714225}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.68438214T>C" "" "likely pathogenic" "" "0000732700" "2" "70" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic" "" "0000732701" "2" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "" "0000733197" "1" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS1+5G>A" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000733198" "3" "70" "1" "68896814" "68896814" "subst" "0" "00000" "RPE65_000129" "g.68896814C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.68431131C>A" "" "likely pathogenic" "" "0000733216" "1" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS1+5G>A" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000733629" "2" "70" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.68444656G>A" "" "likely pathogenic" "" "0000733640" "2" "70" "1" "68904734" "68904734" "del" "0" "00000" "RPE65_000008" "g.68904734del" "" "{PMID:Stone 2017:28559085}" "" "889delA" "" "Germline" "" "" "0" "" "" "g.68439051del" "" "likely pathogenic" "" "0000734412" "3" "90" "1" "68906635" "68906635" "subst" "4.06626E-6" "00000" "RPE65_000026" "g.68906635G>A" "" "{PMID:Habibi 2016:27874104}" "" "" "" "Germline" "" "" "0" "" "" "g.68440952G>A" "" "pathogenic (recessive)" "" "0000734413" "3" "90" "1" "68897270" "68897270" "subst" "0" "00000" "RPE65_000277" "g.68897270T>C" "" "{PMID:Habibi 2016:27874104}" "" "" "" "Germline" "" "" "0" "" "" "g.68431587T>C" "" "pathogenic (recessive)" "" "0000734414" "1" "90" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Habibi 2016:27874104}, {PMID:Habibi 2017:28471455}" "" "325C>T" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "pathogenic (recessive)" "" "0000734423" "2" "90" "1" "68906664" "68906664" "subst" "0" "00000" "RPE65_000279" "g.68906664A>T" "" "{PMID:Habibi 2016:27874104}, {PMID:Habibi 2017:28471455}" "" "569T>A" "" "Germline" "" "" "0" "" "" "g.68440981A>T" "" "pathogenic (recessive)" "" "0000735167" "3" "70" "1" "68903911" "68903911" "subst" "1.62541E-5" "00000" "RPE65_000099" "g.68903911G>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "" "rs121917744" "0" "" "" "g.68438228G>T" "" "likely pathogenic" "" "0000735168" "3" "70" "1" "68903911" "68903911" "subst" "1.62541E-5" "00000" "RPE65_000099" "g.68903911G>T" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "" "" "Germline" "" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic" "" "0000735169" "3" "70" "1" "68903911" "68903911" "subst" "1.62541E-5" "00000" "RPE65_000099" "g.68903911G>T" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "" "" "Germline" "" "" "0" "" "" "g.68438228G>T" "" "likely pathogenic" "" "0000735170" "3" "70" "1" "68903911" "68903911" "subst" "1.62541E-5" "00000" "RPE65_000099" "g.68903911G>T" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "" "" "Germline" "" "rs121917744" "0" "" "" "g.68438228G>T" "" "likely pathogenic" "" "0000735171" "3" "70" "1" "68903911" "68903911" "subst" "1.62541E-5" "00000" "RPE65_000099" "g.68903911G>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "" "rs121917744" "0" "" "" "g.68438228G>T" "" "likely pathogenic" "" "0000735660" "1" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "pathogenic" "" "0000735661" "0" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "" "0000735662" "0" "70" "1" "68910276" "68910276" "subst" "0" "00000" "RPE65_000170" "g.68910276C>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68444593C>G" "" "likely pathogenic" "" "0000735663" "0" "90" "1" "68905254" "68905254" "subst" "4.06279E-6" "00000" "RPE65_000004" "g.68905254A>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68439571A>C" "" "pathogenic" "" "0000735765" "2" "90" "1" "68906680" "68906680" "subst" "1.22059E-5" "00000" "RPE65_000071" "g.68906680C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68440997C>A" "" "pathogenic" "" "0000735766" "0" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "" "0000735767" "0" "70" "1" "68910276" "68910276" "subst" "0" "00000" "RPE65_000170" "g.68910276C>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68444593C>G" "" "likely pathogenic" "" "0000735768" "0" "90" "1" "68896799" "68896799" "subst" "0" "00000" "RPE65_000281" "g.68896799G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68431116G>A" "" "pathogenic" "" "0000735847" "1" "70" "1" "68910503" "68910522" "del" "0" "00000" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444820_68444839del" "" "likely pathogenic" "" "0000735867" "2" "70" "1" "68910290" "68910290" "subst" "1.62456E-5" "00000" "RPE65_000179" "g.68910290C>T" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444607C>T" "" "likely pathogenic" "" "0000736072" "1" "70" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic" "" "0000736087" "3" "70" "1" "68897223" "68897223" "subst" "0" "00000" "RPE65_000241" "g.68897223T>G" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.68431540T>G" "" "likely pathogenic" "" "0000736122" "2" "70" "1" "68904717" "68904718" "del" "0" "00000" "RPE65_000283" "g.68904717_68904718del" "" "{PMID:Huang 2018:29641573}" "" "c.906_907delTA" "" "Germline" "" "" "0" "" "" "g.68439034_68439035del" "" "likely pathogenic" "" "0000736174" "1" "90" "1" "68904977" "68904977" "subst" "0" "00000" "RPE65_000284" "g.68904977A>G" "" "{PMID:Biswas 2017:28130426}" "" "" "" "Germline" "" "" "0" "" "" "g.68439294A>G" "" "pathogenic" "" "0000736214" "3" "90" "1" "68914336" "68914336" "subst" "2.84403E-5" "00000" "RPE65_000151" "g.68914336A>G" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.68448653A>G" "" "pathogenic" "" "0000736215" "1" "90" "1" "68914336" "68914336" "subst" "2.84403E-5" "00000" "RPE65_000151" "g.68914336A>G" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.68448653A>G" "" "pathogenic" "" "0000736216" "3" "90" "1" "68910279" "68910279" "subst" "0" "00000" "RPE65_000122" "g.68910279A>C" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.68444596A>C" "" "pathogenic" "" "0000736233" "2" "90" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000124" "g.68895610C>T" "" "{PMID:Biswas 2017:28130426}" "" "" "" "Germline" "" "rs62653015" "0" "" "" "g.68429927C>T" "" "pathogenic" "" "0000736234" "1" "90" "1" "68904986" "68904986" "subst" "2.03781E-5" "00000" "RPE65_000060" "g.68904986T>C" "" "{PMID:Biswas 2017:28130426}" "" "" "" "Germline" "" "rs373652862" "0" "" "" "g.68439303T>C" "" "pathogenic" "" "0000736236" "2" "90" "1" "68896841" "68896841" "del" "0" "00000" "RPE65_000282" "g.68896841del" "" "{PMID:Biswas 2017:28130426}" "" "c.1360delA" "" "Germline" "" "" "0" "" "" "g.68431158del" "" "pathogenic" "" "0000736260" "2" "90" "1" "68904734" "68904734" "del" "0" "00000" "RPE65_000008" "g.68904734del" "" "{PMID:Bernardis 2016:28127548}" "" "c.893delA" "" "Germline" "" "" "0" "" "" "g.68439051del" "" "pathogenic" "" "0000736370" "1" "10" "1" "0" "0" "" "0" "00008" "NPHS2_000000" "g.?" "" "{PMID:Morimura 1998:9501220}; {PMID:Booij 2005:16272259}" "" "gi3077820:IVS12+20A>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000736371" "1" "10" "1" "0" "0" "" "0" "00008" "NPHS2_000000" "g.?" "" "{PMID:Morimura 1998:9501220}; {PMID:Booij 2005:16272259}" "" "gi3077820:1056G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000736851" "1" "70" "1" "68896758" "68896760" "del" "0" "00000" "RPE65_000285" "g.68896758_68896760del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.68431075_68431077del" "" "likely pathogenic" "" "0000759852" "1" "70" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Wang 2016:27422788}" "" "c.C271T p.R91W" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "" "0000759880" "2" "70" "1" "68906541" "68906541" "dup" "0" "00000" "RPE65_000257" "g.68906541dup" "" "{PMID:Wang 2016:27422788}" "" "c.639dupA p.A214fs" "" "Germline" "" "" "0" "" "" "g.68440858dup" "" "likely pathogenic" "" "0000760183" "3" "50" "1" "68905008" "68905008" "subst" "0" "00000" "RPE65_000286" "g.68905008T>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.68439325T>G" "" "VUS" "" "0000760200" "3" "70" "1" "68906634" "68906634" "subst" "4.06607E-6" "00000" "RPE65_000024" "g.68906634T>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.68440951T>C" "" "likely pathogenic" "" "0000760206" "3" "70" "1" "68910508" "68910508" "subst" "3.65672E-5" "00000" "RPE65_000032" "g.68910508C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.68444825C>A" "" "likely pathogenic" "" "0000760217" "3" "70" "1" "68912507" "68912507" "subst" "4.06088E-5" "00000" "RPE65_000036" "g.68912507C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic" "" "0000760307" "3" "70" "1" "68912520" "68912520" "subst" "2.03049E-5" "00000" "RPE65_000049" "g.68912520C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.68446837C>T" "" "likely pathogenic" "" "0000765551" "1" "90" "1" "68910502" "68910502" "subst" "4.06306E-6" "00000" "RPE65_000265" "g.68910502C>T" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.68444819C>T" "" "pathogenic" "" "0000765591" "2" "90" "1" "68910277" "68910277" "subst" "4.06141E-6" "00000" "RPE65_000289" "g.68910277G>C" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.68444594G>C" "" "pathogenic" "" "0000765745" "0" "70" "1" "68912507" "68912507" "subst" "4.06088E-5" "00000" "RPE65_000036" "g.68912507C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic" "" "0000765785" "0" "70" "1" "68910315" "68910315" "subst" "0.00294476" "00000" "RPE65_000064" "g.68910315C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68444632C>T" "" "likely pathogenic" "" "0000765800" "0" "70" "1" "68912507" "68912507" "subst" "4.06088E-5" "00000" "RPE65_000036" "g.68912507C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic" "" "0000765801" "0" "70" "1" "68904660" "68904660" "subst" "0.0052857" "00000" "RPE65_000013" "g.68904660A>C" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68438977A>C" "" "likely pathogenic" "" "0000765837" "0" "70" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "" "0000765846" "0" "70" "1" "68896832" "68896832" "del" "0" "00000" "RPE65_000288" "g.68896832del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68431149del" "" "likely pathogenic" "" "0000765923" "0" "70" "1" "68910502" "68910502" "subst" "0" "00000" "RPE65_000005" "g.68910502C>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68444819C>G" "" "likely pathogenic" "" "0000766072" "3" "70" "1" "68912411" "68912411" "subst" "0" "00006" "RPE65_000173" "g.68912411T>G" "" "{PMID:Beryozkin 2015:26306921}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000766073" "3" "70" "1" "68910483" "68910483" "subst" "0" "00006" "RPE65_000264" "g.68910483T>C" "" "{PMID:Beryozkin 2015:26306921}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000783267" "3" "90" "1" "68904873" "68904873" "subst" "0" "00000" "RPE65_000092" "g.68904873C>A" "" "{PMID:Srilekha 2015:26147992}" "" "" "" "Germline" "" "" "0" "" "" "g.68439190C>A" "" "pathogenic (recessive)" "" "0000783273" "3" "90" "1" "68896789" "68896789" "subst" "4.07279E-6" "00000" "RPE65_000128" "g.68896789G>A" "" "{PMID:Srilekha 2015:26147992}" "" "" "" "Germline" "" "" "0" "" "" "g.68431106G>A" "" "pathogenic (recessive)" "" "0000783789" "1" "90" "1" "68903895" "68903895" "subst" "0" "00000" "RPE65_000138" "g.68903895T>C" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68438212T>C" "" "pathogenic" "" "0000783827" "1" "90" "1" "68904631" "68904631" "subst" "8.12506E-6" "00000" "RPE65_000010" "g.68904631C>T" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68438948C>T" "" "pathogenic" "" "0000783868" "1" "50" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68446755A>C" "" "VUS" "" "0000783869" "1" "50" "1" "68897000" "68897000" "subst" "0" "00000" "RPE65_000290" "g.68897000A>G" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68431317A>G" "" "VUS" "" "0000783871" "2" "50" "1" "68896965" "68896965" "subst" "1.22257E-5" "00000" "RPE65_000176" "g.68896965C>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68431282C>A" "" "VUS" "" "0000783879" "3" "50" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68429835G>A" "" "VUS" "" "0000783901" "2" "90" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68446755A>C" "" "pathogenic" "" "0000783924" "2" "90" "1" "68904717" "68904718" "del" "0" "00000" "RPE65_000283" "g.68904717_68904718del" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68439034_68439035del" "" "pathogenic" "" "0000783961" "2" "50" "1" "68895471" "68895471" "subst" "0" "00000" "RPE65_000118" "g.68895471G>T" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68429788G>T" "" "VUS" "" "0000783962" "2" "50" "1" "68910216" "68910216" "subst" "0" "00000" "RPE65_000259" "g.68910216G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68444533G>A" "" "VUS" "" "0000783963" "1" "50" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.68446755A>C" "" "VUS" "" "0000784552" "0" "50" "1" "68910517" "68910517" "subst" "0.000251957" "00000" "RPE65_000079" "g.68910517C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs143056561" "0" "" "" "g.68444834C>T" "" "VUS" "" "0000785391" "1" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "" "0000785458" "3" "90" "1" "68912507" "68912507" "subst" "4.06088E-5" "00000" "RPE65_000036" "g.68912507C>T" "" "{PMID:Maria 2015:25775262}" "" "" "" "Germline" "" "" "0" "" "" "g.68446824C>T" "" "pathogenic (recessive)" "" "0000785459" "3" "90" "1" "68910354" "68910354" "del" "0" "00000" "RPE65_000072" "g.68910354del" "" "{PMID:Maria 2015:25775262}" "" "" "" "Germline" "" "" "0" "" "" "g.68444671del" "" "pathogenic (recessive)" "" "0000786422" "3" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "pathogenic (recessive)" "" "0000787625" "1" "70" "1" "68910501" "68910501" "subst" "0" "00000" "RPE65_000027" "g.68910501C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444818C>T" "" "likely pathogenic" "" "0000787682" "1" "70" "1" "68904706" "68904706" "subst" "0" "00000" "RPE65_000054" "g.68904706G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68439023G>A" "" "likely pathogenic" "" "0000787700" "2" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "0" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "" "0000787726" "2" "70" "1" "68904711" "68904711" "subst" "0" "00000" "RPE65_000055" "g.68904711G>T" "" "0" "" "" "" "Germline" "yes" "" "0" "" "" "g.68439028G>T" "" "likely pathogenic" "" "0000788093" "3" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.68429835G>A" "" "pathogenic" "" "0000788147" "1" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic" "" "0000788174" "2" "70" "1" "68912505" "68912505" "subst" "0" "00000" "RPE65_000112" "g.68912505A>G" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.68446822A>G" "" "likely pathogenic" "" "0000788311" "0" "50" "1" "68910495" "68910495" "subst" "4.06306E-6" "00000" "RPE65_000188" "g.68910495C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G317A" "" "Germline" "" "" "0" "" "" "g.68444812C>T" "" "VUS" "" "0000790316" "0" "50" "1" "68904660" "68904660" "subst" "0.0052857" "00000" "RPE65_000013" "g.68904660A>C" "" "{PMID:Vallespin 2007:18055816}" "" "c.963T>G (p.Asn321Lys)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790438" "1" "70" "1" "68895464" "68895464" "subst" "1.22354E-5" "00000" "RPE65_000155" "g.68895464A>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.68429781A>T" "" "likely pathogenic" "" "0000790596" "2" "50" "1" "68914312" "68914312" "subst" "4.06379E-6" "00000" "RPE65_000149" "g.68914312A>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.68448629A>G" "" "VUS" "" "0000790691" "1" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Daiger 2014:24664689}" "" "Asp477Gly" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791221" "2" "70" "1" "68910508" "68910508" "subst" "3.65672E-5" "00000" "RPE65_000032" "g.68910508C>A" "0,00041 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "likely pathogenic" "ACMG" "0000791229" "21" "70" "1" "68896862" "68896862" "subst" "0" "00000" "RPE65_000291" "g.68896862G>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431179G>C" "" "likely pathogenic" "ACMG" "0000791230" "21" "70" "1" "68896862" "68896862" "subst" "0" "00000" "RPE65_000291" "g.68896862G>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.68431179G>C" "" "likely pathogenic" "ACMG" "0000791259" "1" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "0,0002 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "ACMG" "0000791262" "11" "90" "1" "68905269" "68905269" "subst" "3.25013E-5" "00000" "RPE65_000065" "g.68905269G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic" "ACMG" "0000791263" "11" "90" "1" "68905269" "68905269" "subst" "3.25013E-5" "00000" "RPE65_000065" "g.68905269G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.68439586G>A" "" "pathogenic" "ACMG" "0000792062" "3" "90" "1" "68912545" "68912545" "subst" "2.43698E-5" "00000" "RPE65_000141" "g.68912545T>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.95-2A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792063" "3" "90" "1" "68910252" "68910252" "subst" "4.06138E-6" "00000" "RPE65_000292" "g.68910252T>C" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.457A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792169" "0" "90" "1" "68910517" "68910517" "subst" "0.000251957" "00000" "RPE65_000079" "g.68910517C>T" "4/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "295G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792182" "0" "10" "1" "68910517" "68910517" "subst" "0.000251957" "00000" "RPE65_000079" "g.68910517C>T" "4/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "295G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792186" "0" "10" "1" "68910517" "68910517" "subst" "0.000251957" "00000" "RPE65_000079" "g.68910517C>T" "4/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "295G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792196" "0" "10" "1" "68910517" "68910517" "subst" "0.000251957" "00000" "RPE65_000079" "g.68910517C>T" "4/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "295G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792351" "0" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "03508" "RPE65_000121" "g.68895518G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000792352" "0" "70" "1" "68903938" "68903938" "dup" "0" "03508" "RPE65_000044" "g.68903938dup" "" "" "" "1067dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68438255dup" "" "pathogenic" "ACMG" "0000793897" "0" "50" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000124" "g.68895610C>T" "" "{PMID:Foote-2019:10480356}" "" "c.1451G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000793898" "0" "50" "1" "68904986" "68904986" "subst" "2.03781E-5" "00000" "RPE65_000060" "g.68904986T>C" "" "{PMID:Foote-2019:10480356}" "" "c.746A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794212" "0" "70" "1" "68910477" "68910477" "subst" "4.06237E-6" "03508" "RPE65_000293" "g.68910477C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794213" "0" "70" "1" "68910354" "68910354" "dup" "0" "03508" "RPE65_000073" "g.68910354dup" "" "" "" "361dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68444671dup" "" "pathogenic" "ACMG" "0000794380" "3" "70" "1" "68912450" "68912450" "subst" "0" "00000" "RPE65_000294" "g.68912450C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_000329.2:c.188G>A, NP_000320.1:p.(Gly63Glu), NC_000001.10:g.68912450C>T" "" "Germline" "?" "" "0" "" "" "g.68446767C>T" "" "likely pathogenic" "ACMG" "0000794991" "3" "50" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.271C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794992" "3" "50" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.271C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795957" "0" "30" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "" "{PMID:Chen-2013:23661368}" "" "c.1154C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000795974" "0" "70" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "0/384 controls" "{PMID:Chen-2013:23661368}" "" "c.[200T>G];[430T>C]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796030" "0" "90" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Fu-2013:23661369}" "" "c.200T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796031" "0" "90" "1" "68910275" "68910275" "subst" "0" "00000" "RPE65_000097" "g.68910275G>T" "" "{PMID:Fu-2013:23661369}" "" "c.434C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796135" "3" "90" "1" "68910347" "68910348" "ins" "0" "00000" "RPE65_000295" "g.68910347_68910348insA" "" "{PMID:Verma-2013:24066033}" "" "c.361insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796136" "3" "90" "1" "68910348" "68910348" "del" "4.06326E-6" "00000" "RPE65_000072" "g.68910348del" "" "{PMID:Verma-2013:24066033}" "" "c.361delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796140" "0" "70" "1" "68910315" "68910315" "subst" "0.00294476" "00000" "RPE65_000064" "g.68910315C>T" "" "{PMID:Verma-2013:24066033}" "" "c.394G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000796142" "3" "90" "1" "68910348" "68910348" "del" "4.06326E-6" "00000" "RPE65_000072" "g.68910348del" "" "{PMID:Verma-2013:24066033}" "" "c.361delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796143" "3" "90" "1" "68904684" "68904684" "subst" "4.06233E-6" "00000" "RPE65_000052" "g.68904684A>T" "" "{PMID:Verma-2013:24066033}" "" "c.939T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796213" "0" "90" "1" "68897192" "68897192" "subst" "1.62916E-5" "00000" "RPE65_000109" "g.68897192C>T" "" "{PMID:Wang-2013:23847139}" "" "c.1205G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796214" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Wang-2013:23847139}" "" "c.1022T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796692" "0" "70" "1" "68904660" "68904660" "subst" "0.0052857" "00000" "RPE65_000013" "g.68904660A>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.963T>G" "" "Germline" "" "rs149916178" "0" "" "" "" "" "likely pathogenic" "" "0000796711" "0" "70" "1" "68910315" "68910315" "subst" "0.00294476" "00000" "RPE65_000064" "g.68910315C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.394G>A" "" "Germline" "" "rs61752878" "0" "" "" "" "" "likely pathogenic" "" "0000796793" "3" "90" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.271C>T" "" "Germline" "" "rs61752871" "0" "" "" "" "" "pathogenic" "" "0000796876" "3" "90" "1" "68904730" "68904730" "del" "2.43837E-5" "00000" "RPE65_000008" "g.68904730del" "" "{PMID:Wang-2014:24154662}" "" "c.893delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797182" "0" "50" "1" "68912528" "68912528" "subst" "0" "00000" "RPE65_000298" "g.68912528C>G" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.110G>C/p.W37S, allele 2: c.722A>G/p.H241R" "heterozygous" "Germline" "?" "" "0" "" "" "g.68446845C>G" "" "VUS" "ACMG" "0000797183" "0" "50" "1" "68912435" "68912435" "subst" "0" "00000" "RPE65_000297" "g.68912435T>G" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.203A>C/p.H68P, allele 2: c.825C>G/p.Y275*" "heterozygous" "Germline" "?" "" "0" "" "" "g.68446752T>G" "" "VUS" "ACMG" "0000797205" "0" "50" "1" "68905247" "68905247" "subst" "0" "00000" "RPE65_000249" "g.68905247T>C" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.110G>C/p.W37S, allele 2: c.722A>G/p.H241R" "heterozygous" "Germline" "?" "" "0" "" "" "g.68439564T>C" "" "VUS" "ACMG" "0000797206" "0" "70" "1" "68904907" "68904907" "subst" "0" "00000" "RPE65_000296" "g.68904907G>C" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.203A>C/p.H68P, allele 2: c.825C>G/p.Y275*" "heterozygous" "Germline" "?" "" "0" "" "" "g.68439224G>C" "" "likely pathogenic" "ACMG" "0000797413" "21" "70" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000124" "g.68895610C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1451G-->A, c.746A-->G; p.Gly484Asp, p.Tyr249Cys" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68429927C>T" "" "likely pathogenic" "" "0000797454" "11" "70" "1" "68904986" "68904986" "subst" "2.03781E-5" "00000" "RPE65_000060" "g.68904986T>C" "" "{PMID:Patel 2019:30653986}" "" "c.1451G-->A, c.746A-->G; p.Gly484Asp, p.Tyr249Cys" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68439303T>C" "" "likely pathogenic" "" "0000797455" "21" "70" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000124" "g.68895610C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1451G-->A, c.746A-->G; p.Gly484Asp, p.Tyr249Cys" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68429927C>T" "" "likely pathogenic" "" "0000797816" "0" "90" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPE65 c.271C>T, p.(Arg91Trp), c.271C>T, p.(Arg91Trp)" "" "Germline" "?" "" "0" "" "" "g.68444858G>A" "" "pathogenic" "ACMG" "0000797818" "3" "70" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPE65 c.271C>Tp.(Arg91Trp), c.271C>T, p.(Arg91Trp), EYS c.8429C>T, p.(The2810Ile)" "homozygous" "Germline" "?" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "ACMG" "0000798075" "0" "50" "1" "68910483" "68910483" "subst" "0" "00000" "RPE65_000264" "g.68910483T>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPE65 c.329A>G, p.(Asp110Gly), c.1102T>C, p.(Tyr368His)" "" "Germline" "?" "" "0" "" "" "g.68444800T>C" "" "VUS" "ACMG" "0000798076" "0" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPE65 c.329A>G, p.(Asp110Gly), c.1102T>C, p.(Tyr368His)" "" "Germline" "?" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "ACMG" "0000798077" "0" "70" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPE65 c.130C>T, p.(Arg44*), BBS1 c.1169T>G, p.(Met390Arg)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.68446825G>A" "" "likely pathogenic" "ACMG" "0000799505" "0" "50" "1" "68895506" "68895506" "subst" "8.20311E-6" "01943" "RPE65_000299" "g.68895506C>T" "" "" "" "RPE65(NM_000329.2):c.1555G>A (p.E519K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799506" "0" "90" "1" "68904638" "68904638" "del" "0" "01943" "RPE65_000300" "g.68904638del" "" "" "" "RPE65(NM_000329.2):c.985delT (p.C329Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000811440" "3" "70" "1" "68904630" "68904630" "subst" "0" "00000" "RPE65_000104" "g.68904630C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.993G>A (p.Trp331*), Allele 2 c.993G>A (p.Trp331*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68438947C>T" "" "likely pathogenic" "" "0000811441" "3" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.(?_-1)_(1128+1_1129���������1)del, Allele 2 c" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000811841" "0" "70" "1" "68905247" "68905247" "subst" "0" "00000" "RPE65_000172" "g.68905247T>A" "" "{PMID:Gao 2019:31054281}" "" "c.722A>T, p.His241Leu" "heterozygous" "Germline" "?" "" "0" "" "" "g.68439564T>A" "" "likely pathogenic" "" "0000812364" "0" "70" "1" "68904706" "68904706" "subst" "0" "00000" "RPE65_000054" "g.68904706G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "RPE65 Ex.9 c.917C>T p.(Thr306Ile), Ex.10 c.1022T>C p.(Leu341Ser)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68439023G>A" "" "likely pathogenic" "" "0000812365" "0" "70" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RPE65 Ex.9 c.917C>T p.(Thr306Ile), Ex.10 c.1022T>C p.(Leu341Ser)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic" "" "0000812471" "3" "70" "1" "68897004" "68897004" "subst" "0" "00000" "RPE65_000301" "g.68897004A>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.1299T>A, p.(Tyr433*)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68431321A>T" "" "likely pathogenic" "" "0000812473" "3" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Tayebi 2019:30820146}" "" "c.1102T>C, p.(Tyr368His)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic" "" "0000812474" "3" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Tayebi 2019:30820146}" "" "c.1102T>C, p.(Tyr368His)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic" "" "0000812482" "3" "70" "1" "68910356" "68910356" "subst" "0" "00000" "RPE65_000302" "g.68910356C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.354–1G>A, p" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68444673C>T" "" "likely pathogenic" "" "0000812733" "0" "90" "1" "68904624" "68904624" "subst" "0" "00000" "RPE65_000245" "g.68904624C>T" "" "{PMID:Wang 2019:31106028}" "" "c.998+1C>T, p.?" "error in annotation: c.998+1C>T instead of G>A, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68438941C>T" "" "pathogenic" "" "0000812780" "0" "90" "12" "68904711" "68904711" "subst" "0" "00000" "RPE65_000055" "g.68904711G>T" "" "{PMID:Wang 2019:31106028}" "" "c.912C>A, p.(Tyr304*)" "error in gene: transcript and variant match RPE65 and not CEP290,error in gene" "Germline" "?" "" "0" "" "" "g.68439028G>T" "" "pathogenic" "" "0000812806" "0" "70" "1" "68896799" "68896799" "subst" "8.14385E-6" "00000" "RPE65_000236" "g.68896799G>C" "" "{PMID:Wang 2019:31106028}" "" "c.1399G>C, p.(Pro467Ala)" "error in annotation: c.1399G>C instead of C>G, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68431116G>C" "" "likely pathogenic" "" "0000812837" "0" "70" "1" "68912507" "68912507" "subst" "4.06088E-5" "00000" "RPE65_000036" "g.68912507C>T" "" "{PMID:Wang 2019:31106028}" "" "c.131C>T, p.(Arg44Gln)" "error in annotation: c.131C>T instead of G>A, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic" "" "0000812838" "0" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1543C>T, p.(Arg515Trp)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic" "" "0000813192" "0" "70" "1" "68905009" "68905009" "subst" "3.27509E-5" "00000" "RPE65_000062" "g.68905009G>T" "0/200 controls" "{PMID:González-del Pozo-2011:22164218}" "" "c.726-3C.A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813220" "0" "30" "1" "68897109" "68897109" "subst" "0" "00000" "RPE65_000308" "g.68897109A>C" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.1243+45T>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813221" "0" "30" "1" "68896907" "68896907" "subst" "0.00176736" "00000" "RPE65_000304" "g.68896907T>C" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.1339-48A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813639" "0" "70" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.3205T>G, c.200T>G, p.L67R" "" "Unknown" "?" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic" "ACMG" "0000813640" "1" "70" "1" "68912438" "68912438" "subst" "4.06111E-6" "00000" "RPE65_000039" "g.68912438A>C" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.3205T>G, c.200T>G, p.L67R" "" "Germline" "yes" "" "0" "" "" "g.68446755A>C" "" "likely pathogenic" "ACMG" "0000813641" "3" "90" "1" "68897025" "68897025" "subst" "0" "00000" "RPE65_000305" "g.68897025A>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.18618T>A, c.1278T>A, p.Y426X" "" "Germline" "yes" "" "0" "" "" "g.68431342A>T" "" "pathogenic" "ACMG" "0000813642" "0" "70" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.18400C>T, c.1154C>T, p.T385M" "" "Unknown" "?" "" "0" "" "" "g.68431560G>A" "" "likely pathogenic" "ACMG" "0000813646" "0" "70" "1" "68912519" "68912519" "subst" "0" "00000" "RPE65_000156" "g.68912519C>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.3124G>A, c.119G>A, p.G40D" "" "Unknown" "?" "" "0" "" "" "g.68446836C>T" "" "likely pathogenic" "ACMG" "0000813657" "1" "90" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.3135C>T, c.130C>T, p.R44X" "" "Germline" "yes" "" "0" "" "" "g.68446825G>A" "" "pathogenic" "ACMG" "0000813659" "1" "70" "1" "68896754" "68896754" "subst" "0" "00000" "RPE65_000303" "g.68896754C>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.18889G>A, c.1444G>A, p.D482N" "" "Germline" "yes" "" "0" "" "" "g.68431071C>T" "" "likely pathogenic" "ACMG" "0000813668" "0" "70" "1" "68912507" "68912507" "subst" "4.06088E-5" "00000" "RPE65_000036" "g.68912507C>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.3136G>A, c.131G>A, p.R44Q" "single heterozygous" "Unknown" "?" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic" "ACMG" "0000813679" "1" "70" "1" "68914354" "68914354" "subst" "0" "00000" "RPE65_000316" "g.68914354A>G" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.1289T>C, c.47T>C, p.F16S" "" "Germline" "yes" "" "0" "" "" "g.68448671A>G" "" "likely pathogenic" "ACMG" "0000813681" "1" "70" "1" "68897169" "68897169" "subst" "0" "00000" "RPE65_000309" "g.68897169A>G" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.18474T>C, c.1228T>C, p.S410P" "" "Germline" "yes" "" "0" "" "" "g.68431486A>G" "" "likely pathogenic" "ACMG" "0000813691" "3" "70" "1" "68897053" "68897053" "subst" "0" "00000" "RPE65_000306" "g.68897053T>A" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.18590A>T, c.1250A>T, p.E417V" "" "Germline" "yes" "" "0" "" "" "g.68431370T>A" "" "likely pathogenic" "ACMG" "0000813710" "1" "70" "1" "68904641" "68904641" "subst" "4.06246E-6" "00000" "RPE65_000313" "g.68904641G>A" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.11002C>T, c.982C>T, p.L328F" "" "Germline" "yes" "" "0" "" "" "g.68438958G>A" "" "likely pathogenic" "ACMG" "0000813721" "1" "70" "1" "68903958" "68903958" "subst" "4.06788E-6" "00000" "RPE65_000312" "g.68903958C>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.11685G>A, c.1040G>A, p.R347H" "" "Germline" "yes" "" "0" "" "" "g.68438275C>T" "" "likely pathogenic" "ACMG" "0000813728" "3" "70" "1" "68903940" "68903940" "subst" "0" "00000" "RPE65_000311" "g.68903940A>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.11703T>A, c.1058T>A, p.V353E" "" "Germline" "yes" "" "0" "" "" "g.68438257A>T" "" "likely pathogenic" "ACMG" "0000813738" "0" "90" "1" "68904964" "68904964" "del" "0" "00000" "RPE65_000315" "g.68904964del" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.10679delA, c.768delA, p.V257Sfs68" "" "Unknown" "?" "" "0" "" "" "g.68439281del" "" "pathogenic" "ACMG" "0000813739" "2" "90" "1" "68904729" "68904729" "del" "4.06342E-6" "00000" "RPE65_000314" "g.68904729del" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.109144delG, c.894delG, p.K298Nfs27" "" "Germline" "yes" "" "0" "" "" "g.68439046del" "" "pathogenic" "ACMG" "0000813740" "0" "70" "1" "68904706" "68904706" "subst" "0" "00000" "RPE65_000054" "g.68904706G>A" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.10937C>T, c.917C>T, p.T306I" "" "Unknown" "?" "" "0" "" "" "g.68439023G>A" "" "likely pathogenic" "ACMG" "0000813743" "0" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.5304C>T, c.370C>T, p.R124X" "" "Unknown" "?" "" "0" "" "" "g.68444656G>A" "" "pathogenic" "ACMG" "0000813751" "2" "70" "1" "68897053" "68897053" "subst" "0" "00000" "RPE65_000307" "g.68897053T>C" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.18590A>G, c.1250A>G, p.E417G" "" "Germline" "yes" "" "0" "" "" "g.68431370T>C" "" "likely pathogenic" "ACMG" "0000813752" "2" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.20125C>T, c.1543C>T, p.R515W" "" "Germline" "yes" "" "0" "" "" "g.68429835G>A" "" "pathogenic" "ACMG" "0000813762" "2" "90" "1" "68910354" "68910354" "del" "0" "00000" "RPE65_000072" "g.68910354del" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.5295delT, c.361delT, p.S121Lfs6" "" "Germline" "yes" "" "0" "" "" "g.68444671del" "" "pathogenic" "ACMG" "0000813764" "2" "90" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.5103G>A, c.272G>A, p.R91Q" "" "Germline" "yes" "" "0" "" "" "g.68444857C>T" "" "pathogenic" "ACMG" "0000813779" "2" "90" "1" "68904907" "68904907" "subst" "0" "00000" "RPE65_000247" "g.68904907G>T" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.10736C>A, c.825C>A, p.Y275X" "" "Germline" "yes" "" "0" "" "" "g.68439224G>T" "" "pathogenic" "ACMG" "0000813785" "2" "90" "1" "68903919" "68903930" "del" "0" "00000" "RPE65_000310" "g.68903919_68903930del" "" "{PMID:Xu 2020:31630094}" "" "RPE65 NM_000329: g.11714_11725delGCCAGAAAG GCT, c.1069_1080delGCCAGAAAGGCT, p.357_360delARKA" "" "Germline" "yes" "" "0" "" "" "g.68438236_68438247del" "" "pathogenic" "ACMG" "0000814769" "3" "70" "1" "68912507" "68912507" "subst" "4.06088E-5" "00000" "RPE65_000036" "g.68912507C>T" "" "{PMID:Dan 2020:31960602}" "" "RPE65 c.131G>A, p.(Arg44Gln)" "homozygous" "Germline" "yes" "" "0" "" "" "g.68446824C>T" "" "likely pathogenic" "ACMG" "0000814780" "3" "70" "1" "68905242" "68905242" "subst" "0" "00000" "RPE65_000248" "g.68905242A>T" "" "{PMID:Dan 2020:31960602}" "" "RPE65 c.725+2T>A, -" "homozygous" "Germline" "yes" "" "0" "" "" "g.68439559A>T" "" "likely pathogenic" "ACMG" "0000814785" "0" "70" "1" "68896819" "68896819" "subst" "0" "00000" "RPE65_000082" "g.68896819C>T" "" "{PMID:Dan 2020:31960602}" "" "RPE65 c.1379G>A, p.(Trp460*)" "heterozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.68431136C>T" "" "likely pathogenic" "ACMG" "0000814815" "21" "50" "1" "68896795" "68896795" "subst" "0" "00000" "RPE65_000317" "g.68896795G>A" "" "{PMID:Dan 2020:31960602}" "" "RPE65 c.1403C>T, p.(Ser468Leu)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68431112G>A" "" "VUS" "ACMG" "0000815372" "3" "70" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPE65:NM_000329 c.T1022C, p.L341S" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic" "ACMG" "0000815441" "0" "50" "1" "68910315" "68910315" "subst" "0.00294476" "00000" "RPE65_000064" "g.68910315C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPE65:NM_000329 c.G394A, p.A132T" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.68444632C>T" "" "VUS" "ACMG" "0000815980" "0" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "RPE65 c.1102T>C, p.Tyr368His" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "" "0000816111" "3" "70" "1" "68903618" "68915918" "del" "0" "00000" "RPE65_000318" "g.68903618_68915918del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPE65 chr1:68903619_68915919del" "start loss, range 11717-92433 bp in various techniques, homozygous" "Unknown" "?" "" "0" "" "" "g.68437935_68450235del" "" "likely pathogenic" "" "0000816325" "0" "70" "1" "68906562" "68906562" "subst" "1.22003E-5" "00000" "RPE65_000319" "g.68906562A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.617T>C, p.Ile206Thr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68440879A>G" "" "likely pathogenic" "" "0000818456" "11" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Surl 2020:32165824}" "" "c.1543C>T:p.(Arg515Trp)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic (recessive)" "ACMG" "0000818457" "21" "90" "1" "68903938" "68903938" "dup" "0" "00000" "RPE65_000044" "g.68903938dup" "" "{PMID:Surl 2020:32165824}" "" "c.1067dup:p.(Asp356Lysfs*9)" "error in annotation: 1067dup causes p.(Asn356Lysfs*9) and not p.(Asp356Lysfs*9), compound heterozygous" "Germline" "?" "" "0" "" "" "g.68438255dup" "" "pathogenic (recessive)" "ACMG" "0000818939" "11" "70" "1" "68895454" "68915593" "del" "0" "00000" "RPE65_000320" "g.(?_68895454)_(68915593_?)del" "" "{PMID:Ellingsford 2018:29074561}" "" "c.(?_-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818940" "21" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Ellingsford 2018:29074561}" "" "c.1102T>C p.(Tyr368His)" "variant originally described as homozygous" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000819398" "1" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.725+2T>A/p.?" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000819406" "1" "70" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.130C>T/p.R44*, variant 2: c.1102T>C/p.Y368H" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.68446825G>A" "" "likely pathogenic" "" "0000819604" "1" "70" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000321" "g.68895610C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.1451G>T/p.G484V, variant 2: c.1451G>T/p.G484V" "possibly solved, homozygous" "Germline" "yes" "" "0" "" "" "g.68429927C>A" "" "likely pathogenic" "" "0000819605" "1" "70" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000321" "g.68895610C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.1451G>T/p.G484V, variant 2: c.1451G>T/p.G484V" "possibly solved, homozygous" "Germline" "yes" "" "0" "" "" "g.68429927C>A" "" "likely pathogenic" "" "0000819606" "1" "70" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000321" "g.68895610C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.1451G>T/p.G484V, variant 2: c.1451G>T/p.G484V" "possibly solved, homozygous" "Germline" "yes" "" "0" "" "" "g.68429927C>A" "" "likely pathogenic" "" "0000819644" "1" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.130C>T/p.R44*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000820634" "1" "70" "1" "68905242" "68905242" "subst" "0" "00000" "RPE65_000248" "g.68905242A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.725+2T>A/p.?" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68439559A>T" "" "likely pathogenic" "" "0000820636" "1" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.130C>T/p.R44*, variant 2: c.1102T>C/p.Y368H" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic" "" "0000820686" "1" "70" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.130C>T/p.R44*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.68446825G>A" "" "likely pathogenic" "" "0000821381" "0" "70" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Turro 2020:32581362}" "" "RPE65 c.1430A>G, p.Asp477Gly" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68431085T>C" "" "likely pathogenic" "" "0000821382" "0" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Turro 2020:32581362}" "" "RPE65 c.11+5G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000821455" "3" "90" "1" "68903914" "68903914" "subst" "0" "00000" "RPE65_000322" "g.68903914G>A" "" "{PMID:Turro 2020:32581362}" "" "RPE65 c.1084C>T, p.Gln362Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68438231G>A" "" "pathogenic" "" "0000821601" "0" "70" "1" "68914327" "68914327" "subst" "1.219E-5" "00000" "RPE65_000150" "g.68914327G>A" "" "{PMID:Turro 2020:32581362}" "" "RPE65 c.74C>T, p.Pro25Leu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68448644G>A" "" "likely pathogenic" "" "0000822059" "3" "70" "1" "68905269" "68905269" "subst" "3.25013E-5" "00000" "RPE65_000065" "g.68905269G>A" "" "{PMID:Habibi 2020:32641690}" "" "RPE65 c.[700C > T];[700C > T], p.[R234*];[R234*]" "homozygous" "Germline" "?" "" "0" "" "" "g.68439586G>A" "" "likely pathogenic" "" "0000822931" "3" "70" "1" "68895612" "68895612" "subst" "0" "00000" "RPE65_000323" "g.68895612T>G" "" "{PMID:Méjécase 2020:32783370}" "" "RPE65 c.1451-2A>C" "homozygous" "Unknown" "?" "" "0" "" "" "g.68429929T>G" "" "likely pathogenic" "" "0000823230" "3" "50" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Hull 2020:32856788}" "" "RPE65 nucleotide 1, protein 1:c.11+5G>A, p.?" "homozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.68449890C>T" "" "VUS" "" "0000823231" "0" "50" "1" "68912459" "68912459" "subst" "1.22059E-5" "00000" "RPE65_000043" "g.68912459A>G" "" "{PMID:Hull 2020:32856788}" "" "RPE65 nucleotide 1, protein 1:c.179T>C, p.Leu60Pro nucleotide 2, protein 2:c.499G>T, p.Asp167Tyr" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "yes" "" "0" "" "" "g.68446776A>G" "" "VUS" "" "0000823232" "3" "50" "1" "68903911" "68903911" "subst" "1.62541E-5" "00000" "RPE65_000099" "g.68903911G>T" "" "{PMID:Hull 2020:32856788}" "" "RPE65 nucleotide 1, protein 1:c.1087C>A, p.Pro363Thr" "homozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.68438228G>T" "" "VUS" "" "0000823276" "0" "50" "1" "68906680" "68906680" "subst" "1.22059E-5" "00000" "RPE65_000071" "g.68906680C>A" "" "{PMID:Hull 2020:32856788}" "" "RPE65 nucleotide 1, protein 1:c.179T>C, p.Leu60Pro nucleotide 2, protein 2:c.499G>T, p.Asp167Tyr" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "yes" "" "0" "" "" "g.68440997C>A" "" "VUS" "" "0000823389" "0" "70" "1" "68910565" "68910565" "subst" "0" "00000" "RPE65_000266" "g.68910565A>G" "" "{PMID:Sallum 2020:32865313}" "" "SS c.247T>C; p.Phe83Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444882A>G" "" "likely pathogenic" "ACMG" "0000823390" "0" "70" "1" "68906619" "68906619" "subst" "8.13359E-6" "00000" "RPE65_000287" "g.68906619C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.560G>A; p.GIy187GIu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68440936C>T" "" "likely pathogenic" "ACMG" "0000823391" "0" "70" "1" "68906619" "68906619" "subst" "8.13359E-6" "00000" "RPE65_000287" "g.68906619C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.560G>A; p.GIy187GIu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68440936C>T" "" "likely pathogenic" "ACMG" "0000823392" "0" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>A; p.Arg91GIn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "ACMG" "0000823393" "0" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>A; p.Arg91GIn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "ACMG" "0000823394" "0" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>A; p.Arg91GIn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "ACMG" "0000823395" "0" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>A; p.Arg91GIn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "ACMG" "0000823396" "0" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.370C>T; p.Arg124Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444656G>A" "" "pathogenic" "ACMG" "0000823397" "0" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.370C>T; p.Arg124Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444656G>A" "" "pathogenic" "ACMG" "0000823398" "0" "70" "1" "68910565" "68910565" "subst" "0" "00000" "RPE65_000266" "g.68910565A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.247T>C; p.Phe83Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444882A>G" "" "likely pathogenic" "ACMG" "0000823399" "0" "70" "1" "68910565" "68910565" "subst" "0" "00000" "RPE65_000266" "g.68910565A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.247T>C; p.Phe83Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444882A>G" "" "likely pathogenic" "ACMG" "0000823400" "0" "50" "1" "68895478" "68895478" "subst" "0" "00000" "RPE65_000120" "g.68895478C>A" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1583G>T; p.GIy528VaI" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68429795C>A" "" "VUS" "ACMG" "0000823401" "0" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.370C>T; p.Arg124Ter" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444656G>A" "" "pathogenic" "ACMG" "0000823402" "0" "90" "1" "68914340" "68914340" "subst" "0" "00000" "RPE65_000272" "g.68914340C>A" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.61G>T; p.GIu21Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68448657C>A" "" "pathogenic" "ACMG" "0000823403" "0" "90" "1" "68910503" "68910522" "del" "0" "00000" "RPE65_000028" "g.68910503_68910522del" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.292_311deI p.IIe98HisfsTer26" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444820_68444839del" "" "pathogenic" "ACMG" "0000823404" "0" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>A; p.Arg91GIn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "ACMG" "0000823405" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1022T>C; p.Leu341Ser" "homozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "pathogenic" "ACMG" "0000823406" "0" "70" "1" "68910565" "68910565" "subst" "0" "00000" "RPE65_000266" "g.68910565A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.247T>C; p.Phe83Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444882A>G" "" "likely pathogenic" "ACMG" "0000823407" "0" "70" "1" "68910565" "68910565" "subst" "0" "00000" "RPE65_000266" "g.68910565A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.247T>C; p.Phe83Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444882A>G" "" "likely pathogenic" "ACMG" "0000823408" "0" "90" "1" "68896967" "68896967" "dup" "0" "00000" "RPE65_000085" "g.68896967dup" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1336dupA; p.Arg446LysfsTer4" "homozygous" "Unknown" "?" "" "0" "" "" "g.68431284dup" "" "pathogenic" "ACMG" "0000823409" "0" "90" "1" "68897192" "68897192" "subst" "1.62916E-5" "00000" "RPE65_000109" "g.68897192C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.120SG>A; p.Trp402Ter" "homozygous" "Unknown" "?" "" "0" "" "" "g.68431509C>T" "" "pathogenic" "ACMG" "0000823447" "0" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>A; p.Arg91GIn" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "ACMG" "0000823448" "0" "50" "1" "68914336" "68914336" "subst" "2.84403E-5" "00000" "RPE65_000151" "g.68914336A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.65T>C; p.Leu22Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68448653A>G" "" "VUS" "ACMG" "0000823449" "0" "90" "1" "68897192" "68897192" "subst" "1.62916E-5" "00000" "RPE65_000109" "g.68897192C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1205G>A; p.Trp402Ter" "homozygous" "Unknown" "?" "" "0" "" "" "g.68431509C>T" "" "pathogenic" "ACMG" "0000823450" "0" "70" "1" "68910540" "68910540" "subst" "4.06504E-5" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>A; p.Arg91GIn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "likely pathogenic" "ACMG" "0000823451" "0" "70" "1" "68906619" "68906619" "subst" "8.13359E-6" "00000" "RPE65_000287" "g.68906619C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.560G>A; p.GIy187GIu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68440936C>T" "" "likely pathogenic" "ACMG" "0000823452" "0" "70" "1" "68906619" "68906619" "subst" "8.13359E-6" "00000" "RPE65_000287" "g.68906619C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.560G>A; p.GIy187GIu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68440936C>T" "" "likely pathogenic" "ACMG" "0000823453" "0" "70" "1" "68906619" "68906619" "subst" "8.13359E-6" "00000" "RPE65_000287" "g.68906619C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.S60G>A; p.GIy187GIu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68440936C>T" "" "likely pathogenic" "ACMG" "0000823454" "0" "70" "1" "68906619" "68906619" "subst" "8.13359E-6" "00000" "RPE65_000287" "g.68906619C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.560G>A; p.GIy187GIu" "homozygous" "Unknown" "?" "" "0" "" "" "g.68440936C>T" "" "likely pathogenic" "ACMG" "0000823515" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1022T>C; p.Leu341Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "pathogenic" "ACMG" "0000823516" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1022T>C; p.Leu341Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "pathogenic" "ACMG" "0000823517" "0" "50" "1" "68912501" "68912501" "subst" "0" "00000" "RPE65_000270" "g.68912501C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.137G>A; p.GIy46GIu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68446818C>T" "" "VUS" "ACMG" "0000823518" "0" "50" "1" "68912501" "68912501" "subst" "0" "00000" "RPE65_000270" "g.68912501C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.137G>A; p.GIy46GIu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68446818C>T" "" "VUS" "ACMG" "0000823519" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1022T>C; p.Leu341Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "pathogenic" "ACMG" "0000823520" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1022T>C; p.Leu341Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "pathogenic" "ACMG" "0000823521" "0" "50" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.11+SG>A; p.?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68449890C>T" "" "VUS" "ACMG" "0000823522" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1022T>C; p.Leu341Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "pathogenic" "ACMG" "0000823523" "0" "50" "1" "68912454" "68912454" "subst" "0" "00000" "RPE65_000324" "g.68912454C>T" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.184G>A p.Asp62Asn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68446771C>T" "" "VUS" "ACMG" "0000823524" "0" "50" "1" "68903897" "68903897" "subst" "0" "00000" "RPE65_000278" "g.68903897T>C" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1101A>G; p.Arg367=" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438214T>C" "" "VUS" "ACMG" "0000823547" "0" "50" "1" "68910540" "68910540" "subst" "0" "00000" "RPE65_000152" "g.68910540C>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.272G>C; p.Arg91Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>G" "" "VUS" "ACMG" "0000823548" "0" "90" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Sallum 2020:32865313}" "" "RPE65 c.1022T>C; p.Leu341Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "pathogenic" "ACMG" "0000824266" "0" "50" "1" "68903938" "68903938" "dup" "0" "00000" "RPE65_000044" "g.68903938dup" "" "{PMID:Bell 2021:33494148}" "" "RPE65 c.1067du, p.Asn356LysfsTer9" "homozygous" "Germline" "yes" "" "0" "" "" "g.68438255dup" "" "VUS" "" "0000824317" "0" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Pappalardo 2021:33512609}" "" "RPE65 c.1430A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic" "" "0000824318" "0" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Pappalardo 2021:33512609}" "" "RPE65 c.1430A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic" "" "0000824319" "0" "90" "1" "68896768" "68896768" "subst" "0" "00000" "RPE65_000017" "g.68896768T>C" "" "{PMID:Pappalardo 2021:33512609}" "" "RPE65 c.1430A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68431085T>C" "" "pathogenic" "" "0000825730" "3" "70" "1" "68912450" "68912450" "subst" "0" "00000" "RPE65_000294" "g.68912450C>T" "" "{PMID:Liu-2020:33090715}" "" "c.188G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826131" "3" "70" "1" "68910477" "68910477" "subst" "4.06237E-6" "00000" "RPE65_000293" "g.68910477C>T" "" "{PMID:Liu-2020:33090715}" "" "c.335G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826384" "3" "70" "1" "68910502" "68910502" "subst" "4.06306E-6" "00000" "RPE65_000265" "g.68910502C>T" "" "{PMID:Liu-2020:33090715}" "" "c.310G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826507" "3" "90" "1" "68903910" "68903910" "subst" "0" "00000" "RPE65_000243" "g.68903910G>C" "" "{PMID:Salmaninejad-202:33173045}" "" "c.1088C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000826514" "3" "90" "1" "68912534" "68912534" "subst" "0" "00000" "RPE65_000327" "g.68912534G>A" "" "{PMID:Salmaninejad-202:33173045}" "" "c.104C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000826956" "0" "70" "1" "68896789" "68896789" "subst" "0" "00000" "RPE65_000325" "g.68896789G>C" "" "{PMID:Thorsteinsson 2021:33851411}" "" "RPE65 c.1409C>G, p.Pro470Arg" "heterozygous, causality unknown" "Unknown" "?" "" "0" "" "" "g.68431106G>C" "" "likely pathogenic" "" "0000827330" "0" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.370C>T" "" "Germline" "yes" "rs61752877" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827331" "0" "90" "1" "68905269" "68905269" "subst" "3.25013E-5" "00000" "RPE65_000065" "g.68905269G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.700C>T" "" "Germline" "" "rs61752895" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827332" "0" "70" "1" "68903886" "68903886" "subst" "2.03198E-5" "00000" "RPE65_000326" "g.68903886G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.1112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827333" "0" "50" "1" "68910559" "68910559" "subst" "8.54353E-5" "00000" "RPE65_000154" "g.68910559G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.253C>T" "" "Germline" "" "rs763317722" "0" "" "" "" "" "VUS" "" "0000828762" "0" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Chen 2021:43360855}" "" "RPE65 c.259G>A(;)1543C>T, V1: c.1543C>T, (p.Arg515Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic" "ACMG" "0000828852" "0" "70" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "" "{PMID:Chen 2021:43360855}" "" "RPE65 c.[1154C>T];[?], V1: c.1154C>T, (p.Thr385Met)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.68431560G>A" "" "likely pathogenic" "ACMG" "0000828853" "3" "90" "1" "68912520" "68912520" "subst" "2.03049E-5" "00000" "RPE65_000049" "g.68912520C>T" "" "{PMID:Chen 2021:43360855}" "" "RPE65 c.[118G>A];[118G>A], V1: c.118G>A, (p.Gly40Ser)" "homozygous" "Unknown" "?" "" "0" "" "" "g.68446837C>T" "" "pathogenic" "ACMG" "0000828894" "0" "70" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "" "{PMID:Chen 2021:43360855}" "" "RPE65 c.[1154C>T];[?], V1: c.1154C>T, (p.Thr385Met)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.68431560G>A" "" "likely pathogenic" "ACMG" "0000828905" "0" "70" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "" "{PMID:Chen 2021:43360855}" "" "RPE65 c.[1154C>T];[?], V1: c.1154C>T, (p.Thr385Met)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.68431560G>A" "" "likely pathogenic" "ACMG" "0000828967" "0" "50" "1" "68910553" "68910553" "subst" "0" "00000" "RPE65_000328" "g.68910553C>T" "" "{PMID:Chen 2021:43360855}" "" "RPE65 c.259G>A(;)1543C>T, V2: c.259G>A, (p.Asp87Asn)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.68444870C>T" "" "VUS" "ACMG" "0000829454" "3" "70" "1" "68895610" "68895610" "subst" "8.22132E-6" "00000" "RPE65_000321" "g.68895610C>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.1451G>T (p.(Gly484Val))" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829455" "3" "70" "1" "68910508" "68910508" "subst" "3.65672E-5" "00000" "RPE65_000032" "g.68910508C>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.304G>T (p.Glu102*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829456" "0" "70" "1" "68912532" "68912532" "del" "4.06098E-6" "00000" "RPE65_000329" "g.68912532del" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.106del (p.(Leu36Serfs*58))" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829833" "3" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "" "{PMID:Numa-2020:33247286}" "" "c.1543C>T:p.R515W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843774" "1" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "00000" "RPE65_000011" "g.68910339G>A" "" "{PMID:Yzer-2005:16505055}" "" "c.370C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000843775" "2" "90" "1" "68895471" "68895471" "del" "0" "00000" "RPE65_000119" "g.68895471del" "" "{PMID:Yzer-2005:16505055}" "" "c.1590de>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000843776" "3" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Sundaresan-2009:19753312}" "" "(Tyr368His TAT>CAT)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843777" "3" "90" "1" "68910282" "68910282" "subst" "0" "00000" "RPE65_000125" "g.68910282A>C" "" "{PMID:Sundaresan-2009:19753312}" "" "Tyr143Asp TAC>GAC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000844317" "0" "70" "1" "68910528" "68910528" "subst" "0" "00000" "RPE65_000331" "g.68910528T>C" "" "{PMID:Wiszniewski 2011:21153841}" "" "RPE65 c.284A>G, p.E95G" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444845T>C" "" "likely pathogenic" "" "0000844318" "0" "70" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Wiszniewski 2011:21153841}" "" "RPE65 c.271C>T, p.R91W" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "" "0000844319" "0" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Wiszniewski 2011:21153841}" "" "RPE65 c.1102T>C, p.Y368H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic" "" "0000844320" "0" "70" "1" "68903976" "68903976" "subst" "0" "00000" "RPE65_000015" "g.68903976A>G" "" "{PMID:Wiszniewski 2011:21153841}" "" "RPE65 c.1022T>C, p.L341S" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic" "" "0000844329" "0" "70" "1" "68910354" "68910354" "del" "0" "00000" "RPE65_000072" "g.68910354del" "" "{PMID:Wiszniewski 2011:21153841}" "" "RPE65 c.355delT, p.S121LfsX6" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444671del" "" "likely pathogenic" "" "0000844624" "21" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Preising 2007:17525851}" "" "RPE65 IVS1+5g>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000844625" "11" "70" "1" "68910541" "68910541" "subst" "5.28498E-5" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.R91 W (c.271C>T)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "" "0000844626" "11" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Preising 2007:17525851}" "" "RPE65 IVS1+5g>a" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000844627" "3" "70" "1" "68910540" "68910541" "ins" "0" "00000" "RPE65_000333" "g.68910540_68910541insT" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.R91TfsX5 (c.271insA)" "typing error in annotation: p.I374LfsX9 is caused by c.1120del and not c.1160del; heterozygous" "Germline" "yes" "" "0" "" "" "g.68444857_68444858insT" "" "likely pathogenic" "" "0000844628" "11" "70" "1" "68905319" "68905319" "del" "0" "00000" "RPE65_000252" "g.68905319del" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.D217IfsX3 (c.651delA)" "error in annotation: should be p.D218IfsX3 and not p.D217IfsX3, heterozygous" "Germline" "yes" "" "0" "" "" "g.68439636del" "" "likely pathogenic" "" "0000844629" "21" "70" "1" "68915573" "68915573" "subst" "8.12466E-5" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Preising 2007:17525851}" "" "RPE65 IVS1+5g>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68449890C>T" "" "likely pathogenic" "" "0000844630" "3" "70" "1" "68910508" "68910508" "subst" "3.65672E-5" "00000" "RPE65_000032" "g.68910508C>A" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.E102X (c.304G>T)" "homozygous" "Germline" "yes" "" "0" "" "" "g.68444825C>A" "" "likely pathogenic" "" "0000844631" "21" "70" "1" "68912403" "68912403" "subst" "0" "00000" "RPE65_000034" "g.68912403A>G" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.Y79H (c.235T>C)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68446720A>G" "" "likely pathogenic" "" "0000844635" "3" "70" "1" "68910540" "68910541" "ins" "0" "00000" "RPE65_000333" "g.68910540_68910541insT" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.R91TfsX5 (c.271insA)" "error in annotation: should be c.271_272insA and not c.271insA, p.R91QfsX5 and not p.R91TfsX5, homozygous" "Germline" "yes" "" "0" "" "" "g.68444857_68444858insT" "" "likely pathogenic" "" "0000844636" "3" "70" "1" "68910540" "68910541" "ins" "0" "00000" "RPE65_000333" "g.68910540_68910541insT" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.R91TfsX5 (c.271insA)" "error in annotation: should be c.271_272insA and not c.271insA, homozygous" "Germline" "yes" "" "0" "" "" "g.68444857_68444858insT" "" "likely pathogenic" "" "0000844640" "11" "70" "1" "68903878" "68903878" "del" "0" "00000" "RPE65_000242" "g.68903878del" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.I374LfsX9 (c.1160delA)" "typing error in annotation: p.I374LfsX9 is caused by c.1120del and not c.1160del; heterozygous" "Unknown" "?" "" "0" "" "" "g.68438195del" "" "likely pathogenic" "" "0000844641" "21" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.Y368H (c.1102T>C)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic" "" "0000844642" "21" "70" "1" "68914310" "68914311" "ins" "0" "00000" "RPE65_000147" "g.68914310_68914311insA" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.T31NfsX21 (c.90insT)" "error in annotation: should be c.90_91insT and not c.90insT, p.T31YfsX21 and not p.T31NfsX21, heterozygous" "Germline" "yes" "" "0" "" "" "g.68448627_68448628insA" "" "likely pathogenic" "" "0000844643" "11" "70" "1" "68895481" "68895481" "subst" "4.08267E-6" "00000" "RPE65_000330" "g.68895481T>C" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.H527R (c.1580A>G)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68429798T>C" "" "likely pathogenic" "" "0000844644" "11" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.Y368H (c.1102T>C)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68438213A>G" "" "likely pathogenic" "" "0000844645" "11" "70" "1" "68910529" "68910529" "subst" "0" "00000" "RPE65_000332" "g.68910529C>G" "" "{PMID:Preising 2007:17525851}" "" "RPE65 p.E95Q (c.283G>C)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68444846C>G" "" "likely pathogenic" "" "0000846452" "0" "70" "14" "68910541" "68910541" "subst" "0" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Chebil 2016:26868535}" "" "RPE65 c.271C>T, R91W" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "" "0000846453" "0" "70" "14" "68910541" "68910541" "subst" "0" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Chebil 2016:26868535}" "" "RPE65 c.271C>T, R91W" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "" "0000846454" "0" "70" "14" "68910541" "68910541" "subst" "0" "00000" "RPE65_000003" "g.68910541G>A" "" "{PMID:Chebil 2016:26868535}" "" "RPE65 c.271C>T, R91W" "heterozygous; no second allele found" "Unknown" "?" "" "0" "" "" "g.68444858G>A" "" "likely pathogenic" "" "0000848828" "0" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "02330" "RPE65_000001" "g.68903896A>G" "" "" "" "RPE65(NM_000329.3):c.1102T>C (p.Y368H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848829" "0" "70" "1" "68905294" "68905294" "subst" "0" "02327" "RPE65_000334" "g.68905294G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848830" "0" "50" "1" "68906614" "68906614" "subst" "9.76173E-5" "01943" "RPE65_000023" "g.68906614C>T" "" "" "" "RPE65(NM_000329.2):c.565G>A (p.V189I), RPE65(NM_000329.3):c.565G>A (p.(Val189Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848831" "0" "50" "1" "68906637" "68906637" "subst" "0" "01943" "RPE65_000336" "g.68906637G>T" "" "" "" "RPE65(NM_000329.2):c.542C>A (p.P181H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848832" "0" "30" "1" "68912553" "68912553" "subst" "7.71856E-5" "02330" "RPE65_000198" "g.68912553A>T" "" "" "" "RPE65(NM_000329.2):c.95-10T>A, RPE65(NM_000329.3):c.95-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857593" "0" "30" "1" "68905294" "68905294" "subst" "0.000475324" "02330" "RPE65_000335" "g.68905294G>C" "" "" "" "RPE65(NM_000329.3):c.675C>G (p.I225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857594" "0" "30" "1" "68906651" "68906651" "subst" "0" "02330" "RPE65_000337" "g.68906651C>T" "" "" "" "RPE65(NM_000329.3):c.528G>A (p.G176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868177" "3" "90" "4" "68904735" "68904736" "ins" "0" "00000" "RPE65_000005" "g.68904735_68904736insT" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.887InsA, p.Arg296LysfsX6" "homozygous" "Unknown" "?" "" "0" "" "" "g.68439052_68439053insT" "" "pathogenic" "" "0000868178" "3" "90" "4" "68903896" "68903896" "subst" "0" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.1102T>C, p.Tyr368His" "homozygous" "Unknown" "?" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "" "0000868180" "3" "90" "4" "68912459" "68912459" "subst" "0" "00000" "RPE65_000043" "g.68912459A>G" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.179T>C, p.Leu60Pro" "homozygous" "Unknown" "?" "" "0" "" "" "g.68446776A>G" "" "pathogenic" "" "0000868182" "3" "90" "4" "68912459" "68912459" "subst" "0" "00000" "RPE65_000043" "g.68912459A>G" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.179T>C, p.Leu60Pro" "homozygous" "Unknown" "?" "" "0" "" "" "g.68446776A>G" "" "pathogenic" "" "0000868183" "3" "90" "4" "68912459" "68912459" "subst" "0" "00000" "RPE65_000043" "g.68912459A>G" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.179T>C, p.Leu60Pro" "homozygous" "Unknown" "?" "" "0" "" "" "g.68446776A>G" "" "pathogenic" "" "0000868184" "3" "90" "4" "68910508" "68910508" "subst" "0" "00000" "RPE65_000032" "g.68910508C>A" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.304G>T, p.Glu102X" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444825C>A" "" "pathogenic" "" "0000868185" "1" "90" "4" "68915573" "68915573" "subst" "0" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.11+5G>A, [splice]" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68449890C>T" "" "pathogenic" "" "0000868186" "1" "90" "4" "68915573" "68915573" "subst" "0" "00000" "RPE65_000058" "g.68915573C>T" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.11+5G>A, [splice]" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68449890C>T" "" "pathogenic" "" "0000868187" "3" "90" "4" "68910214" "68910214" "dup" "0" "00000" "RPE65_000249" "g.68910214dup" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.495+1insG, p.Gln165fsX2" "homozygous" "Unknown" "?" "" "0" "" "" "g.68444531dup" "" "pathogenic" "" "0000868188" "1" "90" "4" "68912520" "68912520" "subst" "0" "00000" "RPE65_000049" "g.68912520C>T" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.118G>A, p.Gly40Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68446837C>T" "" "pathogenic" "" "0000868189" "1" "90" "4" "68896752" "68896754" "del" "0" "00000" "RPE65_000001" "g.68896752_68896754del" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.1444delGAT, p.Asp482del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68431069_68431071del" "" "pathogenic" "" "0000868190" "1" "90" "4" "68904637" "68904637" "subst" "0" "00000" "RPE65_000004" "g.68904637C>T" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.986G>A, p.Cys329Tyr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438954C>T" "" "pathogenic" "" "0000868191" "1" "90" "4" "68903930" "68903930" "dup" "0" "00000" "RPE65_000003" "g.68903930dup" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.1067insT, p.Asn356LysfsX8" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438247dup" "" "pathogenic" "" "0000868192" "2" "90" "4" "68905242" "68905242" "subst" "0" "00000" "RPE65_000248" "g.68905242A>T" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.725+2T>A, [splice]" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68439559A>T" "" "pathogenic" "" "0000868193" "2" "90" "4" "68903896" "68903896" "subst" "0" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.1102T>C, [p.Tyr368His]" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "" "0000868194" "2" "90" "4" "68910540" "68910540" "subst" "0" "00000" "RPE65_000081" "g.68910540C>T" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.272G>A, p.Arg91Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444857C>T" "" "pathogenic" "" "0000868195" "2" "90" "4" "68910562" "68910562" "subst" "0" "00000" "RPE65_000250" "g.68910562T>A" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.250A>T, p.Ile84Phe" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68444879T>A" "" "pathogenic" "" "0000868196" "2" "90" "4" "68903896" "68903896" "subst" "0" "00000" "RPE65_000001" "g.68903896A>G" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.1102T>C, p.Tyr368His" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438213A>G" "" "pathogenic" "" "0000868197" "2" "90" "4" "68897219" "68897219" "subst" "0" "00000" "RPE65_000002" "g.68897219G>C" "" "{PMID:Scholl 2015:26656277}" "" "RPE65 c.1178C>G, p.Ala393Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68431536G>C" "" "pathogenic" "" "0000873059" "1" "70" "1" "68906541" "68906541" "dup" "0" "00000" "RPE65_000257" "g.68906541dup" "" "{PMID:Yang 2017:28393863}" "" "RPE65 c.639_640insA" "c.639_640insA automapped to NM_000329.2:c.639dupA; heterozygous" "Germline" "yes" "" "0" "" "" "g.68440858dup" "" "likely pathogenic (recessive)" "" "0000873062" "2" "70" "1" "68904641" "68904641" "subst" "4.06246E-6" "00000" "RPE65_000313" "g.68904641G>A" "" "{PMID:Yang 2017:28393863}" "" "RPE65 c.982C>T (L328F)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68438958G>A" "" "likely pathogenic (recessive)" "" "0000883564" "0" "90" "1" "68895518" "68895518" "subst" "8.21052E-6" "02330" "RPE65_000121" "g.68895518G>A" "" "" "" "RPE65(NM_000329.3):c.1543C>T (p.R515W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883565" "0" "90" "1" "68914336" "68914336" "subst" "2.84403E-5" "02330" "RPE65_000151" "g.68914336A>G" "" "" "" "RPE65(NM_000329.3):c.65T>C (p.L22P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883566" "0" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "02330" "RPE65_000058" "g.68915573C>T" "" "" "" "RPE65(NM_000329.3):c.11+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896571" "0" "70" "1" "68895518" "68895518" "subst" "8.21052E-6" "00000" "RPE65_000121" "g.68895518G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000804" "{PMID:Chen 2021:33608557}" "" "RPE65 c.259G>A(;)1543C>T; p.(Arg515Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68429835G>A" "" "likely pathogenic" "" "0000896572" "0" "50" "1" "68910553" "68910553" "subst" "0" "00000" "RPE65_000328" "g.68910553C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPE65 c.259G>A(;)1543C>T; p.(Asp87Asn)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68444870C>T" "" "VUS" "" "0000896602" "0" "70" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00299; GnomAD_All: 0.000244" "{PMID:Chen 2021:33608557}" "" "RPE65 c.[1154C>T];[?]; p.(Thr385Met)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.68431560G>A" "" "likely pathogenic" "" "0000896607" "0" "70" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00299; GnomAD_All: 0.000244" "{PMID:Chen 2021:33608557}" "" "RPE65 c.[1154C>T];[?]; p.(Thr385Met)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.68431560G>A" "" "likely pathogenic" "" "0000896670" "0" "70" "1" "68897243" "68897243" "subst" "0.000240693" "00000" "RPE65_000183" "g.68897243G>A" "Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00299; GnomAD_All: 0.000244" "{PMID:Chen 2021:33608557}" "" "RPE65 c.[1154C>T];[?]; p.(Thr385Met)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.68431560G>A" "" "likely pathogenic" "" "0000896712" "3" "90" "1" "68912520" "68912520" "subst" "2.03049E-5" "00000" "RPE65_000049" "g.68912520C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000239" "{PMID:Chen 2021:33608557}" "" "RPE65 c.[118G>A];[118G>A]; p.(Gly40Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.68446837C>T" "" "pathogenic" "" "0000897876" "1" "70" "1" "68906653" "68906653" "del" "0" "04364" "RPE65_000338" "g.68906653del" "" "" "" "526del" "" "Germline" "yes" "" "0" "" "" "g.68440970del" "" "pathogenic (recessive)" "ACMG" "0000905915" "0" "90" "1" "68904743" "68904743" "dup" "0" "00000" "RPE65_000140" "g.68904743dup" "" "{PMID:Zhu 2022:35456422}" "" "RPE65 c.886dup, p.Arg296Lysfs*7" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68439060dup" "" "pathogenic" "ACMG" "0000905916" "0" "90" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Zhu 2022:35456422}" "" "RPE65 c.130C>T, p.Arg44*" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68446825G>A" "" "pathogenic" "ACMG" "0000905917" "0" "90" "1" "68904743" "68904743" "dup" "0" "00000" "RPE65_000140" "g.68904743dup" "" "{PMID:Zhu 2022:35456422}" "" "RPE65 c.886dup, p.Arg296Lysfs*7" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68439060dup" "" "pathogenic" "ACMG" "0000905918" "0" "90" "1" "68912508" "68912508" "subst" "2.43649E-5" "00000" "RPE65_000229" "g.68912508G>A" "" "{PMID:Zhu 2022:35456422}" "" "RPE65 c.130C>T, p.Arg44*" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68446825G>A" "" "pathogenic" "ACMG" "0000911122" "0" "30" "1" "68912536" "68912536" "subst" "0.000304593" "02330" "RPE65_000197" "g.68912536G>T" "" "" "" "RPE65(NM_000329.2):c.102C>A (p.I34=), RPE65(NM_000329.3):c.102C>A (p.I34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915805" "3" "90" "1" "68906635" "68906635" "subst" "4.06626E-6" "04436" "RPE65_000026" "g.68906635G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.544C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915838" "3" "90" "1" "68906635" "68906635" "subst" "4.06626E-6" "04436" "RPE65_000026" "g.68906635G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.544C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916090" "1" "50" "1" "68910498" "68910498" "subst" "0" "04436" "RPE65_000341" "g.68910498G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.314C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916091" "2" "90" "1" "68904873" "68904873" "subst" "0" "04436" "RPE65_000091" "g.68904873C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.858+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916343" "1" "70" "1" "68910295" "68910295" "del" "0" "04436" "RPE65_000340" "g.68910295del" "" "{PMID:Panneman 2023:36819107}" "" "c.414del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916344" "2" "50" "1" "68903988" "68903988" "subst" "0" "04436" "RPE65_000339" "g.68903988A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.1010T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916459" "1" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "04436" "RPE65_000058" "g.68915573C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.11+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916460" "2" "90" "1" "68903896" "68903896" "subst" "6.90793E-5" "04436" "RPE65_000001" "g.68903896A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.1102T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916516" "1" "90" "1" "68910501" "68910520" "del" "4.46944E-5" "04436" "RPE65_000028" "g.68910501_68910520del" "" "{PMID:Panneman 2023:36819107}" "" "c.292_311del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916517" "2" "90" "1" "68904685" "68904685" "subst" "0" "04436" "RPE65_000053" "g.68904685T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.938A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916768" "1" "90" "1" "68905294" "68905294" "subst" "0" "04436" "RPE65_000334" "g.68905294G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.675C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916769" "2" "90" "1" "68904737" "68904737" "dup" "0" "04436" "RPE65_000140" "g.68904737dup" "" "{PMID:Panneman 2023:36819107}" "" "c.886dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000928209" "0" "10" "1" "68910315" "68910315" "subst" "0.00294476" "02327" "RPE65_000064" "g.68910315C>T" "" "" "" "RPE65(NM_000329.3):c.394G>A (p.A132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947292" "0" "90" "1" "68910339" "68910339" "subst" "3.65649E-5" "02330" "RPE65_000011" "g.68910339G>A" "" "" "" "RPE65(NM_000329.3):c.370C>T (p.R124*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000955421" "0" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00006" "RPE65_000058" "g.68915573C>T" "" "{PMID:Vazquez-Domínguez 2022:36429068}" "" "" "midigene in vitro splicing assay; cell line analysis show overall decreased expression levels" "In vitro (cloned)" "" "" "0" "" "" "g.68449890C>T" "" "NA" "" "0000958199" "0" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00006" "RPE65_000058" "g.68915573C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.68449890C>T" "98825" "pathogenic (recessive)" "ACMG" "0000958200" "0" "90" "1" "68904907" "68904907" "subst" "0" "00006" "RPE65_000296" "g.68904907G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.68439224G>C" "" "pathogenic (recessive)" "ACMG" "0000958202" "3" "90" "1" "68910508" "68910508" "subst" "3.65672E-5" "00006" "RPE65_000032" "g.68910508C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.68444825C>A" "98863" "pathogenic (recessive)" "ACMG" "0000958204" "3" "90" "1" "68912429" "68912429" "subst" "0" "00006" "RPE65_000267" "g.68912429A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.68446746A>G" "" "pathogenic (recessive)" "ACMG" "0000958319" "3" "70" "1" "68910529" "68910529" "subst" "0" "00006" "RPE65_000332" "g.68910529C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1, PP2, PP5" "Germline" "" "" "0" "" "" "g.68444846C>G" "" "likely pathogenic (recessive)" "ACMG" "0000958375" "0" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00006" "RPE65_000058" "g.68915573C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "ACMG" "0000958544" "0" "90" "1" "68896996" "68896996" "subst" "0" "00006" "RPE65_000087" "g.68896996C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.68431313C>A" "" "pathogenic (recessive)" "ACMG" "0000958547" "0" "90" "1" "68910540" "68910540" "subst" "4.06504E-5" "00006" "RPE65_000081" "g.68910540C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.68444857C>T" "" "pathogenic (recessive)" "ACMG" "0000958611" "0" "70" "1" "68903976" "68903976" "subst" "0" "00006" "RPE65_000015" "g.68903976A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.68438293A>G" "" "likely pathogenic (recessive)" "ACMG" "0000958622" "0" "70" "1" "68915579" "68915579" "subst" "0" "00006" "RPE65_000347" "g.68915579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.68449896G>A" "" "likely pathogenic (recessive)" "ACMG" "0000958623" "0" "50" "1" "68910300" "68910300" "subst" "0" "00006" "RPE65_000344" "g.68910300A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.68444617A>G" "" "VUS" "ACMG" "0000958657" "0" "70" "1" "68903896" "68903896" "subst" "6.90793E-5" "00006" "RPE65_000001" "g.68903896A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.68438213A>G" "29870" "likely pathogenic (recessive)" "ACMG" "0000958913" "0" "90" "1" "68910508" "68910508" "subst" "3.65672E-5" "00006" "RPE65_000032" "g.68910508C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.68444825C>A" "" "pathogenic (recessive)" "ACMG" "0000958953" "0" "50" "1" "68903994" "68903994" "subst" "0" "00006" "RPE65_000343" "g.68903994T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM5, PP2" "Germline" "" "" "0" "" "" "g.68438311T>C" "" "VUS" "ACMG" "0000959036" "0" "50" "1" "68897202" "68897202" "subst" "5.70279E-5" "00006" "RPE65_000342" "g.68897202C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68431519C>T" "" "VUS" "ACMG" "0000959045" "0" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00006" "RPE65_000058" "g.68915573C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "ACMG" "0000959349" "0" "50" "1" "68914381" "68914381" "subst" "0" "00006" "RPE65_000346" "g.68914381T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.68448698T>C" "" "VUS" "ACMG" "0000959390" "0" "70" "1" "68912438" "68912438" "subst" "0" "00006" "RPE65_000345" "g.68912438A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2" "Germline" "" "" "0" "" "" "g.68446755A>T" "" "likely pathogenic (recessive)" "ACMG" "0000961140" "0" "70" "1" "68895610" "68895610" "subst" "8.22132E-6" "02327" "RPE65_000321" "g.68895610C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974090" "0" "30" "1" "68897144" "68897144" "subst" "2.03658E-5" "01804" "RPE65_000348" "g.68897144A>G" "" "" "" "RPE65(NM_000329.3):c.1243+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974091" "0" "90" "1" "68905254" "68905254" "subst" "4.06279E-6" "02330" "RPE65_000004" "g.68905254A>C" "" "" "" "RPE65(NM_000329.3):c.715T>G (p.Y239D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991402" "0" "30" "1" "68904660" "68904660" "subst" "0.0052857" "01804" "RPE65_000013" "g.68904660A>C" "" "" "" "RPE65(NM_000329.2):c.963T>G (p.N321K, p.(Asn321Lys)), RPE65(NM_000329.3):c.963T>G (p.N321K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991403" "0" "50" "1" "68906632" "68906632" "subst" "1.21973E-5" "01804" "RPE65_000349" "g.68906632T>C" "" "" "" "RPE65(NM_000329.2):c.547A>G (p.(Ile183Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991404" "0" "90" "1" "68906680" "68906680" "subst" "1.22059E-5" "02327" "RPE65_000071" "g.68906680C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001020304" "3" "90" "1" "68915573" "68915573" "subst" "8.12466E-5" "00006" "RPE65_000058" "g.68915573C>T" "" "{PMID:Pradhan 2009:19788668}" "" "" "" "Germline" "" "" "0" "" "" "g.68449890C>T" "" "pathogenic (recessive)" "" "0001032164" "0" "90" "1" "68905254" "68905254" "subst" "4.06279E-6" "02325" "RPE65_000004" "g.68905254A>C" "" "" "" "RPE65(NM_000329.3):c.715T>G (p.Y239D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032165" "0" "50" "1" "68906614" "68906614" "subst" "9.76173E-5" "01804" "RPE65_000023" "g.68906614C>T" "" "" "" "RPE65(NM_000329.2):c.565G>A (p.V189I), RPE65(NM_000329.3):c.565G>A (p.(Val189Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RPE65 ## Count = 1537 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000019484" "00018066" "90" "893" "0" "893" "0" "c.893del" "r.(?)" "p.(Lys298Serfs*27)" "9" "0000047750" "00018066" "70" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Trp331*)" "9" "0000047751" "00018066" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "5" "0000060420" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "10" "0000060421" "00018066" "70" "208" "0" "208" "0" "c.208T>G" "r.(?)" "p.(Phe70Val)" "3" "0000060422" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "4" "0000060423" "00018066" "70" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "7" "0000060424" "00018066" "97" "310" "0" "310" "0" "c.310G>C" "r.(?)" "p.(Gly104Arg)" "4" "0000060426" "00018066" "99" "1459" "0" "1460" "0" "c.1459_1460del" "r.(?)" "p.(Leu487Glufs*25)" "14" "0000060428" "00018066" "70" "646" "0" "646" "0" "c.646A>T" "r.(?)" "p.(Lys216*)" "7" "0000060429" "00018066" "70" "646" "0" "646" "0" "c.646A>T" "r.(?)" "p.(Lys216*)" "7" "0000060430" "00018066" "70" "1514" "0" "1514" "0" "c.1514T>G" "r.(?)" "p.(Leu505Arg)" "14" "0000060431" "00018066" "70" "1514" "0" "1514" "0" "c.1514T>G" "r.(?)" "p.(Leu505Arg)" "14" "0000060432" "00018066" "70" "46" "0" "49" "0" "c.46_49del" "r.(?)" "p.(Phe16Lysfs*14)" "2" "0000081809" "00018066" "55" "-4" "0" "-4" "0" "c.-4G>A" "r.(?)" "p.(?)" "1" "0000081810" "00018066" "99" "1244" "-1" "1338" "1" "c.(1243+1_1244-1)_(1338+1_1339-1)del" "r.(?)" "p.(Phe416Leufs*2)" "11i_12i" "0000081811" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081812" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081813" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081814" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081815" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081816" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081817" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081818" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081819" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081820" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081821" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081822" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081823" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081824" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081825" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081826" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081827" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081828" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081829" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081830" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081831" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081832" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081833" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081834" "00018066" "77" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000081835" "00018066" "99" "1028" "0" "1028" "0" "c.1028T>A" "r.(?)" "p.(Leu343*)" "10" "0000081836" "00018066" "99" "1059" "0" "1059" "0" "c.1059dup" "r.(?)" "p.(Lys354Glufs*11)" "10" "0000081837" "00018066" "99" "1059" "0" "1059" "0" "c.1059dup" "r.(?)" "p.(Lys354Glufs*11)" "10" "0000081838" "00018066" "99" "1059" "0" "1059" "0" "c.1059dup" "r.(?)" "p.(Lys354Glufs*11)" "10" "0000081839" "00018066" "99" "1059" "0" "1059" "0" "c.1059dup" "r.(?)" "p.(Lys354Glufs*11)" "10" "0000081840" "00018066" "99" "1059" "0" "1059" "0" "c.1059dup" "r.(?)" 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"p.(Thr31Tyrfs*21)" "2" "0000082448" "00018066" "99" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Lys303*)" "9" "0000082449" "00018066" "99" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Lys303*)" "9" "0000082450" "00018066" "99" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Lys303*)" "9" "0000082451" "00018066" "99" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Lys303*)" "9" "0000082452" "00018066" "99" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Lys303*)" "9" "0000082453" "00018066" "99" "912" "0" "912" "0" "c.912C>A" "r.(?)" "p.(Tyr304*)" "9" "0000082454" "00018066" "55" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Thr306Ile)" "9" "0000082455" "00018066" "77" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(His313Arg)" "9" "0000082456" "00018066" "77" "939" "0" "939" "0" "c.939T>A" "r.(?)" "p.(His313Gln)" "9" "0000082457" "00018066" "55" "94" "10" "94" "10" "c.94+10A>G" "r.spl?" "p.(?)" "2i" "0000082458" "00018066" "99" "95" "-1" "95" "-1" "c.95-1G>A" "r.spl" "p.?" 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"p.(Pro363Thr)" "10" "0000245402" "00018066" "10" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Asn321Lys)" "" "0000254161" "00018066" "30" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Asn321Lys)" "" "0000294992" "00018066" "10" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Thr385=)" "" "0000294993" "00018066" "50" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Val452Ile)" "" "0000294994" "00018066" "50" "275" "0" "275" "0" "c.275C>A" "r.(?)" "p.(Ala92Glu)" "" "0000294995" "00018066" "10" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "" "0000294996" "00018066" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0000294997" "00018066" "10" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Thr147=)" "" "0000307308" "00018066" "30" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Thr385=)" "" "0000307309" "00018066" "30" "1302" "0" "1302" "0" "c.1302G>C" "r.(?)" "p.(Ala434=)" "" "0000307310" "00018066" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Gly75Glu)" "" "0000307311" "00018066" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "" "0000338636" "00018066" "90" "1338" "1" "1338" "1" "c.1338+1G>T" "r.spl?" "p.?" "" "0000341174" "00018066" "70" "433" "0" "433" "0" "c.433G>C" "r.(?)" "p.(Ala145Pro)" "" "0000341175" "00018066" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0000343482" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000345375" "00018066" "10" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Glu352=)" "" "0000349289" "00018066" "50" "446" "0" "446" "0" "c.446C>A" "r.(?)" "p.(Thr149Asn)" "" "0000350059" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000351346" "00018066" "10" "1338" "20" "1338" "20" "c.1338+20A>C" "r.(=)" "p.(=)" "" "0000351347" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.?" "" "0000358331" "00018066" "70" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Glu)" "12" "0000358332" "00018066" "70" "722" "0" "722" "0" "c.722A>T" "r.(?)" "p.(His241Leu)" "7" "0000358333" "00018066" "70" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(His76Pro)" "3" "0000358334" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl" "p.?" "2i" "0000358452" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl" "p.?" "2i" "0000438680" "00018066" "90" "332" "0" "332" "0" "c.332C>A" "r.(?)" "p.(Pro111His)" "4-5" "0000438681" "00018066" "90" "1451" "-2" "1451" "-2" "c.1451-2del" "r.spl" "p.?" "14" "0000440117" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440118" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440119" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440120" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440842" "00018066" "70" "718" "0" "718" "0" "c.718G>T" "r.(718g>u)" "p.(Val240Phe)" "" "0000440843" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440844" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440845" "00018066" "70" "718" "0" "718" "0" "c.718G>T" "r.(718g>u)" "p.(Val240Phe)" "" "0000440846" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440847" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440848" "00018066" "90" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440849" "00018066" "70" "419" "0" "419" "0" "c.419G>A" "r.(419g>a)" "p.(Gly140Glu)" "" "0000440850" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.242g>u" "p.(Arg81Ile)" "" "0000440851" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440852" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440853" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440854" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440855" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440856" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440857" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440858" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440859" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440860" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440861" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440862" "00018066" "70" "419" "0" "419" "0" "c.419G>A" "r.(419g>a)" "p.(Gly140Glu)" "" "0000440863" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440864" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440865" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440866" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440867" "00018066" "70" "361" "0" "361" "0" "c.361dup" "r.(?)" "p.(Ser121Phefs*10)" "" "0000440868" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440869" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440870" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440871" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440872" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440873" "00018066" "90" "419" "0" "419" "0" "c.419G>A" "r.(419g>a)" "p.(Gly140Glu)" "" "0000440874" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440875" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000440876" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440877" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.[(1338g>u),spl]" "p.[(Arg446Ser),(?)]" "" "0000440878" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440879" "00018066" "70" "242" "0" "242" "0" "c.242G>T" "r.(242g>u)" "p.(Arg81Ile)" "" "0000440880" "00018066" "70" "419" "0" "419" "0" "c.419G>A" "r.(419g>a)" "p.(Gly140Glu)" "" "0000475703" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000475704" "00018066" "50" "1420" "0" "1420" "0" "c.1420T>G" "r.(?)" "p.(Ser474Ala)" "" "0000475705" "00018066" "50" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Pro470Ser)" "" "0000475706" "00018066" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413His)" "" "0000475707" "00018066" "50" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000475708" "00018066" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Ser242Asn)" "" "0000475709" "00018066" "50" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Pro237Ser)" "" "0000475710" "00018066" "50" "683" "0" "683" "0" "c.683A>C" "r.(?)" "p.(Gln228Pro)" "" "0000475711" "00018066" "50" "377" "0" "377" "0" "c.377T>C" "r.(?)" "p.(Val126Ala)" "" "0000475712" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000475713" "00018066" "50" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Cys106Tyr)" "" "0000475714" "00018066" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Gly75Glu)" "" "0000477400" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000487575" "00018066" "70" "405" "0" "405" "0" "c.405T>A" "r.(?)" "p.(Asn135Lys)" "5" "0000487576" "00018066" "90" "61" "0" "61" "0" "c.61del" "r.(?)" "p.(Glu21Asnfs*10)" "2" "0000487577" "00018066" "70" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Thr129Ile)" "5" "0000487578" "00018066" "90" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Gln64Lysfs*30)" "3" "0000508273" "00018066" "30" "1395" "0" "1395" "0" "c.1395A>G" "r.(?)" "p.(Ser465=)" "" "0000508274" "00018066" "50" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Arg446Gly)" "" "0000508275" "00018066" "50" "1220" "0" "1220" "0" "c.1220T>C" "r.(?)" "p.(Val407Ala)" "" "0000508276" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0000508277" "00018066" "30" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Val226Ile)" "" "0000508278" "00018066" "30" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Ile220Val)" "" "0000508279" "00018066" "50" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Val136Phe)" "" "0000508280" "00018066" "30" "102" "0" "102" "0" "c.102C>A" "r.(?)" "p.(Ile34=)" "" "0000508281" "00018066" "30" "95" "-10" "95" "-10" "c.95-10T>A" "r.(=)" "p.(=)" "" "0000508282" "00018066" "10" "48" "0" "48" "0" "c.48T>C" "r.(?)" "p.(Phe16=)" "" "0000508283" "00018066" "30" "48" "0" "48" "0" "c.48T>C" "r.(?)" "p.(Phe16=)" "" "0000604550" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "14" "0000604551" "00018066" "70" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "10" "0000605917" "00018066" "10" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Tyr144=)" "" "0000605918" "00018066" "10" "399" "0" "399" "0" "c.399T>C" "r.(?)" "p.(Leu133=)" "" "0000605919" "00018066" "50" "208" "0" "208" "0" "c.208T>G" "r.(?)" "p.(Phe70Val)" "" "0000647770" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000647771" "00018066" "90" "1292" "0" "1292" "0" "c.1292A>G" "r.(?)" "p.(Tyr431Cys)" "" "0000647772" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000654104" "00018066" "10" "1302" "0" "1302" "0" "c.1302G>C" "r.(?)" "p.(Ala434=)" "" "0000675921" "00018066" "30" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Thr39=)" "" "0000684573" "00018066" "70" "10" "0" "10" "0" "c.10del" "r.(?)" "p.(Gln4Argfs*27)" "" "0000684574" "00018066" "70" "716" "0" "716" "0" "c.716dup" "r.(?)" "p.(Tyr239*)" "" "0000684653" "00018066" "70" "11" "2" "11" "2" "c.11+2T>G" "r.spl" "p.?" "" "0000685436" "00018066" "90" "722" "0" "722" "0" "c.722A>T" "r.(?)" "p.(His241Leu)" "" "0000685437" "00018066" "90" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(His76Pro)" "" "0000685438" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl" "p.?" "" "0000685439" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl" "p.?" "" "0000688236" "00018066" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Asp398=)" "" "0000710250" "00018066" "90" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Gln64Lysfs*30)" "" "0000710256" "00018066" "70" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Thr129Ile)" "" "0000710272" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000710279" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl" "p.?" "" "0000710287" "00018066" "70" "405" "0" "405" "0" "c.405T>A" "r.(?)" "p.(Asn135Lys)" "" "0000710305" "00018066" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000710343" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000710345" "00018066" "90" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000710360" "00018066" "90" "61" "0" "61" "0" "c.61del" "r.(?)" "p.(Glu21Asnfs*10)" "" "0000711704" "00018066" "70" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Asn321Lys)" "9" "0000712556" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000713659" "00018066" "90" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000713897" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.?" "" "0000714414" "00018066" "90" "460" "0" "463" "0" "c.(460_463del)" "r.(?)" "p.(Lys154Leufs*53)" "" "0000714415" "00018066" "70" "1348" "0" "1348" "0" "c.(1348C>A)" "r.(?)" "p.(Leu450Met)" "" "0000714416" "00018066" "90" "538" "0" "539" "0" "c.(538_539delinsGC)" "-" "p.His180Ala" "" "0000714417" "00018066" "90" "721" "0" "722" "0" "c.(721_722delinsGC)" "-" "p.His241Ala" "" "0000714418" "00018066" "90" "937" "0" "938" "0" "c.(937_938delinsGC)" "-" "p.His313Ala" "" "0000714419" "00018066" "90" "1579" "0" "1580" "0" "c.(1579_1580delinsGC)" "-" "p.His527Ala" "" "0000714420" "00018066" "90" "1250" "0" "1250" "0" "c.(1250A>C)" "-" "p.Glu417Ala" "" "0000714421" "00018066" "70" "691" "0" "691" "0" "c.(691T>A)" "-" "p.Cys231Ser" "" "0000714422" "00018066" "90" "985" "0" "985" "0" "c.(985T>A)" "-" "p.Cys329Ser" "" "0000714423" "00018066" "90" "692" "0" "692" "0" "c.(692G>C)" "-" "p.Cys231Ser" "" "0000714424" "00018066" "70" "986" "0" "986" "0" "c.(986G>C)" "-" "p.Cys329Ser" "" "0000714425" "00018066" "50" "988" "0" "989" "0" "c.(988_989delinsAC)" "-" "p.Cys330Thr" "" "0000714426" "00018066" "90" "985" "0" "989" "0" "c.(985_989delinsAGCAG)" "-" "p.Cys329_Cys330delinsSerSer" "" "0000714427" "00018066" "90" "986" "0" "988" "0" "c.(986_988delinsCAA)" "-" "p.Cys329_Cys330delinsSerSer" "" "0000714428" "00018066" "90" "118" "0" "118" "0" "c.(118G>A)" "-" "p.Gly40Ser" "" "0000714429" "00018066" "90" "131" "0" "131" "0" "c.(131G>A)" "-" "p.Arg44Gln" "" "0000714430" "00018066" "90" "202" "0" "202" "0" "c.(202C>T)" "-" "p.His68Tyr" "" "0000714431" "00018066" "90" "202" "0" "203" "0" "c.(202_203delinsGC)" "-" "p.His68Ala" "" "0000714432" "00018066" "70" "394" "0" "394" "0" "c.(394G>A)" "-" "p.Ala132Thr" "" "0000714433" "00018066" "90" "544" "0" "544" "0" "c.(544C>T)" "-" "p.His182Tyr" "" "0000714434" "00018066" "90" "544" "0" "545" "0" "c.(544_545delinsGC)" "-" "p.His182Ala" "" "0000714435" "00018066" "90" "1102" "0" "1102" "0" "c.(1102T>C)" "-" "p.Tyr368His" "" "0000714436" "00018066" "90" "1249" "0" "1249" "0" "c.(1249G>C)" "-" "p.Glu417Gln" "" "0000714437" "00018066" "90" "1583" "0" "1583" "0" "c.(1583G>T)" "-" "p.Gly528Val" "" "0000714438" "00018066" "90" "881" "0" "881" "0" "c.(881A>C)" "-" "p.Lys294Thr" "" "0000714439" "00018066" "90" "989" "0" "989" "0" "c.(989G>A)" "-" "p.Cys330Tyr" "" "0000714440" "00018066" "70" "1301" "0" "1301" "0" "c.(1301C>T)" "-" "p.Ala434Val" "" "0000714441" "00018066" "70" "1103" "0" "1103" "0" "c.(1103A>T)" "-" "p.Tyr368Phe" "" "0000714442" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "-" "p.Tyr368His" "" "0000714443" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "-" "p.Arg91Trp" "" "0000714444" "00018066" "90" "271" "0" "271" "0" "c.(271C>T)" "r.271c>u" "p.Arg91Trp" "" "0000714445" "00018066" "50" "177" "0" "177" "0" "c.177C>G" "r.(?)" "p.(His59Gln)" "" "0000714446" "00018066" "90" "1223" "0" "1223" "0" "c.1223T>C" "r.1223u>c" "p.Leu408Pro" "" "0000714447" "00018066" "90" "246" "-11" "246" "-11" "c.246-11A>G" "r.245_246ins246-10_246-1" "p.Arg82fs" "3i" "0000714479" "00018066" "10" "644" "-33" "644" "-33" "c.644-33C>G" "r.(?)" "p.(=)" "" "0000714480" "00018066" "30" "644" "-42" "644" "-42" "c.644-42del" "r.(?)" "p.(=)" "" "0000714481" "00018066" "30" "644" "-43" "644" "-43" "c.644-43del" "r.(?)" "p.(=)" "" "0000714482" "00018066" "90" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000714483" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714484" "00018066" "90" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0000714485" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714486" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714487" "00018066" "90" "886" "0" "886" "0" "c.886dup" "r.(?)" "p.(Arg296Lysfs*7)" "" "0000714488" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000714489" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000714490" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000714491" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000714492" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000714493" "00018066" "90" "1430" "0" "1430" "0" "c.(1430A>G)" "r.(?)" "p.(Asp477Gly)" "" "0000714494" "00018066" "90" "1174" "0" "1174" "0" "c.1174A>C" "r.(?)" "p.(Thr392Pro)" "" "0000714495" "00018066" "90" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000714496" "00018066" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234*)" "" "0000714497" "00018066" "90" "638" "0" "638" "0" "c.638A>C" "r.(?)" "p.(Gln213Pro)" "" "0000714498" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714499" "00018066" "90" "1028" "0" "1028" "0" "c.1028T>A" "r.(?)" "p.(Leu343*)" "" "0000714500" "00018066" "90" "638" "0" "638" "0" "c.638A>C" "r.(?)" "p.(Gln213Pro)" "" "0000714501" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000714502" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gly)" "" "0000714503" "00018066" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165*)" "" "0000714504" "00018066" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165*)" "" "0000714505" "00018066" "90" "94" "0" "94" "0" "c.94G>T" "r.spl?" "p.(Gly32Cys)" "" "0000714506" "00018066" "90" "94" "0" "94" "0" "c.94G>T" "r.spl?" "p.(Gly32Cys)" "" "0000714507" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000714508" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000714509" "00018066" "90" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000714510" "00018066" "90" "1338" "0" "1338" "0" "c.1338G>T" "r.(1244_1338del)" "p.?" "" "0000714511" "00018066" "90" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Leu42Phe)" "" "0000714512" "00018066" "90" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Phe50Ser)" "" "0000714513" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714514" "00018066" "90" "340" "0" "340" "0" "c.340A>C" "r.(?)" "p.(Asn114His)" "" "0000714515" "00018066" "90" "1409" "0" "1409" "0" "c.1409C>T" "r.(?)" "p.(Pro470Leu)" "" "0000714516" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000714517" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714518" "00018066" "90" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000714519" "00018066" "90" "1182" "0" "1182" "0" "c.1182dup" "r.(?)" "p.(Leu395Serfs*4)" "" "0000714523" "00018066" "90" "858" "1" "858" "1" "c.858+1del" "r.(858del)" "p.(Val287Phefs*38)" "" "0000714526" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714527" "00018066" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Glu)" "" "0000714528" "00018066" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Glu)" "" "0000714529" "00018066" "90" "434" "0" "434" "0" "c.434C>A" "r.(?)" "p.(Ala145Asp)" "" "0000714530" "00018066" "90" "434" "0" "434" "0" "c.434C>A" "r.(?)" "p.(Ala145Asp)" "" "0000714531" "00018066" "90" "713" "0" "713" "0" "c.713C>G" "r.(?)" "p.(Ser238Cys)" "" "0000714532" "00018066" "90" "713" "0" "713" "0" "c.713C>G" "r.(?)" "p.(Ser238Cys)" "" "0000714533" "00018066" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000714534" "00018066" "90" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(His241Arg)" "" "0000714535" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714536" "00018066" "90" "1059" "0" "1059" "0" "c.1059dup" "r.(?)" "p.(Lys354Glufs*11)" "" "0000714537" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714538" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714539" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714540" "00018066" "90" "94" "0" "94" "0" "c.94G>T" "r.(?)" "p.(Gly32Cys)" "" "0000714541" "00018066" "90" "998" "1" "998" "1" "c.998+1G>A" "r.spl" "p.?" "" "0000714542" "00018066" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165*)" "" "0000714543" "00018066" "90" "825" "0" "825" "0" "c.825C>A" "r.(?)" "p.(Tyr275*)" "" "0000714544" "00018066" "90" "639" "0" "639" "0" "c.639dup" "r.(?)" "p.(Ala214Serfs*20)" "" "0000714545" "00018066" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "" "0000714546" "00018066" "90" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000714547" "00018066" "90" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000714548" "00018066" "90" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000714549" "00018066" "90" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000714550" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714551" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714552" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714553" "00018066" "90" "1067" "0" "1067" "0" "c.1067del" "r.(?)" "p.(Asn356Metfs*17)" "" "0000714554" "00018066" "90" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(His182Arg)" "" "0000714555" "00018066" "90" "1451" "-1" "1451" "-1" "c.1451-1G>A" "r.spl" "p.?" "" "0000714556" "00018066" "90" "1374" "0" "1374" "0" "c.1374G>A" "r.(?)" "p.(Trp458*)" "" "0000714557" "00018066" "90" "1450" "1" "1450" "1" "c.1450+1del" "r.spl" "p.?" "" "0000714558" "00018066" "90" "190" "0" "190" "0" "c.190C>G" "r.(?)" "p.(Gln64Glu)" "" "0000714559" "00018066" "90" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000714560" "00018066" "90" "999" "-1" "999" "-1" "c.999-1G>T" "r.spl" "p.?" "" "0000714561" "00018066" "90" "1503" "0" "1503" "0" "c.1503T>G" "r.(?)" "p.(Tyr501*)" "" "0000714562" "00018066" "90" "1374" "0" "1374" "0" "c.1374G>A" "r.(?)" "p.(Trp458*)" "" "0000714563" "00018066" "90" "364" "0" "364" "0" "c.364T>C" "r.(?)" "p.(Tyr122His)" "" "0000714565" "00018066" "90" "1182" "0" "1182" "0" "c.1182dup" "r.(?)" "p.(Leu395Serfs*4)" "" "0000714566" "00018066" "90" "858" "1" "858" "1" "c.858+1del" "r.(858del)" "p.(Val287Phefs*38)" "" "0000714567" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714568" "00018066" "90" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Asp142Gly)" "" "0000714576" "00018066" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000714577" "00018066" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000714578" "00018066" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000714579" "00018066" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000714580" "00018066" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000714581" "00018066" "90" "138" "0" "138" "0" "c.138del" "r.(?)" "p.(Pro47Glnfs*47)" "" "0000714582" "00018066" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "" "0000714583" "00018066" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "" "0000714584" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714585" "00018066" "90" "354" "0" "354" "0" "c.354G>T" "r.(?)" "p.(Arg118Ser)" "" "0000714586" "00018066" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234*)" "" "0000714587" "00018066" "90" "138" "0" "138" "0" "c.138del" "r.(?)" "p.(Pro47Glnfs*47)" "" "0000714588" "00018066" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "" "0000714589" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714590" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714591" "00018066" "90" "354" "0" "354" "0" "c.354G>T" "r.(?)" "p.(Arg118Ser)" "" "0000714592" "00018066" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234*)" "" "0000714593" "00018066" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000714594" "00018066" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000714595" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714596" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714597" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714598" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714599" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714600" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714601" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714602" "00018066" "90" "651" "0" "651" "0" "c.651del" "r.(?)" "p.(Asp218Ilefs*3)" "" "0000714603" "00018066" "90" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000714604" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714605" "00018066" "90" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000714606" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714607" "00018066" "90" "405" "0" "405" "0" "c.405T>A" "r.(?)" "p.(Asn135Lys)" "" "0000714608" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000714609" "00018066" "90" "495" "1" "495" "1" "c.495+1dup" "r.spl" "p.?" "" "0000714610" "00018066" "90" "715" "0" "715" "0" "c.715T>A" "r.(?)" "p.(Tyr239Asn)" "" "0000714611" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714612" "00018066" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000714613" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714614" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714615" "00018066" "90" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000714616" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714617" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714618" "00018066" "90" "94" "0" "94" "0" "c.94G>T" "r.(?)" "p.(Gly32Cys)" "" "0000714619" "00018066" "90" "1328" "0" "1328" "0" "c.1328T>C" "r.(?)" "p.(Val443Ala)" "" "0000714620" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714621" "00018066" "90" "11" "2" "11" "2" "c.11+2T>V" "r.spl" "p.?" "" "0000714622" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000714623" "00018066" "90" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(His182Arg)" "" "0000714624" "00018066" "90" "879" "0" "887" "0" "c.(879_887)?" "r.(?)" "p.(Lys294ins?)" "" "0000714625" "00018066" "90" "429" "0" "429" "0" "c.429C>G" "r.(?)" "p.(Tyr143*)" "" "0000714626" "00018066" "90" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Val136Phe)" "" "0000714627" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714628" "00018066" "90" "1336" "0" "1336" "0" "c.1336dup" "r.(?)" "p.(Arg446Lysfs*4)" "" "0000714629" "00018066" "90" "208" "0" "208" "0" "c.208T>G" "r.(?)" "p.(Phe70Val)" "" "0000714630" "00018066" "90" "289" "0" "289" "0" "c.289dup" "r.(?)" "p.(Arg97Lysfs*34)" "" "0000714631" "00018066" "90" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Trp460*)" "" "0000714632" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000714633" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714634" "00018066" "90" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Tyr79His)" "" "0000714635" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714636" "00018066" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "0000714637" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000714638" "00018066" "90" "61" "0" "61" "0" "c.61G>T" "r.(?)" "p.(Glu21*)" "" "0000714639" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000714640" "00018066" "90" "1336" "0" "1336" "0" "c.1336dup" "r.(?)" "p.(Arg446Lysfs*4)" "" "0000714641" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000714642" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl" "p.?" "" "0000714643" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl" "p.?" "" "0000714644" "00018066" "90" "843" "0" "858" "7" "c.843_858+7del" "r.spl" "p.?" "" "0000714645" "00018066" "90" "444" "0" "444" "0" "c.444G>C" "r.(?)" "p.(Glu148Asp)" "" "0000714646" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714647" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714648" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714649" "00018066" "90" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000714650" "00018066" "90" "1451" "-1" "1451" "-1" "c.1451-1G>A" "r.(?)" "p.?" "" "0000714651" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000714652" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714653" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714654" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714655" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714656" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714657" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0000714658" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714659" "00018066" "90" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Cys330Thr)" "" "0000714660" "00018066" "90" "138" "0" "138" "0" "c.138del" "r.(?)" "p.(Pro47Glnfs*47)" "" "0000714661" "00018066" "90" "138" "0" "138" "0" "c.138del" "r.(?)" "p.(Pro47Glnfs*47)" "" "0000714662" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0000714663" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714664" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714665" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714666" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714667" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714668" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714669" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714670" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714671" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714672" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714673" "00018066" "90" "859" "0" "859" "0" "c.859G>T" "r.(?)" "p.(Val287Phe)" "" "0000714674" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714675" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714676" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714677" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714678" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714679" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714680" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714681" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714682" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714683" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714684" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714685" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714686" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714687" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714688" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714689" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714690" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714691" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714692" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714693" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0000714694" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714695" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714696" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714697" "00018066" "90" "1207" "0" "1210" "0" "c.1207_1210dup" "r.(?)" "p.(Glu404Alafs*4)" "" "0000714698" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000714699" "00018066" "90" "1328" "0" "1328" "0" "c.1328T>C" "r.(?)" "p.(Val443Ala)" "" "0000714700" "00018066" "90" "1120" "0" "1120" "0" "c.1120del" "r.(?)" "p.(Ile374Leufs*10)" "" "0000714701" "00018066" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "" "0000714702" "00018066" "90" "1328" "0" "1328" "0" "c.1328T>C" "r.(?)" "p.(Val443Ala)" "" "0000714703" "00018066" "90" "1120" "0" "1120" "0" "c.1120del" "r.(?)" "p.(Ile374Leufs*10)" "" "0000714704" "00018066" "90" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Gly104Ser)" "" "0000714705" "00018066" "90" "1590" "0" "1590" "0" "c.1590del" "r.(?)" "p.(Phe530Leufs*40)" "" "0000714706" "00018066" "90" "1370" "0" "1370" "0" "c.1370C>A" "r.(?)" "p.(Thr457Asn)" "" "0000714707" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714708" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714709" "00018066" "90" "144" "0" "145" "0" "c.144_145insT" "r.(?)" "p.(Leu49Serfs*3)" "" "0000714710" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714711" "00018066" "90" "1580" "0" "1580" "0" "c.1580A>C" "r.(?)" "p.(His527Pro)" "" "0000714712" "00018066" "90" "725" "2" "725" "2" "c.725+2T>A" "r.spl" "p.?" "" "0000714713" "00018066" "90" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Tyr79His)" "" "0000714714" "00018066" "90" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" "0000714715" "00018066" "90" "209" "0" "209" "0" "c.209T>C" "r.(?)" "p.(Phe70Ser)" "" "0000714716" "00018066" "90" "1374" "0" "1374" "0" "c.1374G>A" "r.(?)" "p.(Trp458*)" "" "0000714717" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714718" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714719" "00018066" "90" "1088" "0" "1088" "0" "c.1088C>G" "r.(?)" "p.(Pro363Arg)" "" "0000714720" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714721" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714722" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714723" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000714724" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714725" "00018066" "90" "495" "1" "495" "1" "c.495+1dup" "r.spl" "p.?" "" "0000714726" "00018066" "90" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000714727" "00018066" "90" "952" "0" "952" "0" "c.952T>A" "r.(?)" "p.Tyr318Asn" "" "0000714728" "00018066" "90" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Ala415Val)" "" "0000714729" "00018066" "90" "1351" "0" "1351" "0" "c.1351A>T" "r.(?)" "p.(Asn451Tyr)" "" "0000714730" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714731" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000714732" "00018066" "90" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000714733" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000714734" "00018066" "90" "1292" "0" "1292" "0" "c.1292A>G" "r.(?)" "p.(Tyr431Cys)" "" "0000714735" "00018066" "90" "1445" "0" "1445" "0" "c.1445A>G" "r.(?)" "p.(Asp482Gly)" "" "0000714736" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000714737" "00018066" "90" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Glu)" "" "0000714738" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000714739" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000714740" "00018066" "90" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000714741" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714742" "00018066" "90" "208" "0" "208" "0" "c.208T>G" "r.(?)" "p.(Phe70Val)" "" "0000714743" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0000714744" "00018066" "90" "361" "0" "361" "0" "c.361del" "r.(?)" "p.(Ser121Leufs*6)" "" "0000714745" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714746" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000714747" "00018066" "90" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000714748" "00018066" "90" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000714749" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000714750" "00018066" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Asp167Tyr)" "" "0000714751" "00018066" "90" "991" "0" "993" "0" "c.991_993dup" "r.(?)" "p.(Trp331dup)" "" "0000714752" "00018066" "90" "1338" "1" "1338" "1" "c.1338+1G>A" "r.spl" "p.?" "" "0000717683" "00018066" "30" "1299" "0" "1299" "0" "c.1299T>C" "r.(?)" "p.(Tyr433=)" "" "0000729764" "00018066" "70" "177" "0" "177" "0" "c.177C>G" "r.(?)" "p.(His59Gln)" "" "0000729789" "00018066" "70" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Ser)" "" "0000731009" "00018066" "70" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000731010" "00018066" "70" "1249" "0" "1249" "0" "c.1249G>C" "r.(?)" "p.(Glu417Gln)" "" "0000731082" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000731134" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000731135" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000731136" "00018066" "90" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "" "0000731164" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000731258" "00018066" "70" "951" "0" "956" "0" "c.951_956del" "r.(?)" "p.(Tyr318_Glu319del)" "" "0000731259" "00018066" "70" "1040" "0" "1040" "0" "c.1040G>C" "r.(?)" "p.(Arg347Pro)" "" "0000731281" "00018066" "70" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000731282" "00018066" "70" "726" "-1" "726" "-1" "c.726-1G>A" "r.spl" "p.?" "" "0000732426" "00018066" "90" "311" "0" "311" "0" "c.311G>T" "r.(?)" "p.(Gly104Val)" "" "0000732430" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000732568" "00018066" "50" "886" "0" "886" "0" "c.886dup" "r.(?)" "p.(Arg296Lysfs*7)" "" "0000732674" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.(del-exon)" "p.?" "" "0000732675" "00018066" "70" "1338" "0" "1338" "0" "c.1338G>T" "r.(del-exon)" "p.?" "" "0000732682" "00018066" "70" "1101" "0" "1101" "0" "c.1101A>G" "r.(1101_1128del)" "p.?" "" "0000732700" "00018066" "70" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000732701" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000733197" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000733198" "00018066" "70" "1384" "0" "1384" "0" "c.1384G>T" "r.(?)" "p.(Glu462*)" "" "0000733216" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000733629" "00018066" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000733640" "00018066" "70" "893" "0" "893" "0" "c.893del" "r.(?)" "p.(Lys298Serfs*27)" "" "0000734412" "00018066" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(His182Tyr)" "" "0000734413" "00018066" "90" "1129" "-2" "1129" "-2" "c.1129-2A>G" "r.spl" "p.?" "" "0000734414" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000734423" "00018066" "90" "515" "0" "515" "0" "c.515T>A" "r.(?)" "p.(Val172Asp)" "" "0000735167" "00018066" "70" "1087" "0" "1087" "0" "c.1087C>A" "r.(?)" "p.(Pro363Thr)" "" "0000735168" "00018066" "70" "1087" "0" "1087" "0" "c.1087C>A" "r.(?)" "p.(Pro363Thr)" "" "0000735169" "00018066" "70" "1087" "0" "1087" "0" "c.1087C>A" "r.(?)" "p.(Pro363Thr)" "" "0000735170" "00018066" "70" "1087" "0" "1087" "0" "c.1087C>A" "r.(?)" "p.(Pro363Thr)" "" "0000735171" "00018066" "70" "1087" "0" "1087" "0" "c.1087C>A" "r.(?)" "p.(Pro363Thr)" "" "0000735660" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.?" "" "0000735661" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000735662" "00018066" "70" "433" "0" "433" "0" "c.433G>C" "r.(?)" "p.(Ala145Pro)" "" "0000735663" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0000735765" "00018066" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Asp167Tyr)" "" "0000735766" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000735767" "00018066" "70" "433" "0" "433" "0" "c.433G>C" "r.(?)" "p.(Ala145Pro)" "" "0000735768" "00018066" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Pro467Ser)" "" "0000735847" "00018066" "70" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98HisfsTer26)" "" "0000735867" "00018066" "70" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Gly140Glu)" "" "0000736072" "00018066" "70" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000736087" "00018066" "70" "1174" "0" "1174" "0" "c.1174A>C" "r.(?)" "p.(Thr392Pro)" "" "0000736122" "00018066" "70" "906" "0" "907" "0" "c.906_907del" "r.(?)" "p.(Asn302Lysfs*17)" "" "0000736174" "00018066" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Phe252Ser)" "" "0000736214" "00018066" "90" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "2" "0000736215" "00018066" "90" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "2" "0000736216" "00018066" "90" "430" "0" "430" "0" "c.430T>G" "r.(?)" "p.(Tyr144Asp)" "5" "0000736233" "00018066" "90" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000736234" "00018066" "90" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Tyr249Cys)" "" "0000736236" "00018066" "90" "1360" "0" "1360" "0" "c.1360delA" "r.(?)" "p.(Thr454Leufs*32)" "" "0000736260" "00018066" "90" "893" "0" "893" "0" "c.893delA" "r.(?)" "p.(Lys298Serfs*27)" "9" "0000736370" "00018066" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000736371" "00018066" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000736851" "00018066" "70" "1443" "0" "1445" "0" "c.1443_1445del" "r.(?)" "p.(Glu481del)" "" "0000759852" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000759880" "00018066" "70" "639" "0" "639" "0" "c.639dup" "r.(?)" "p.(Ala214SerfsTer20)" "" "0000760183" "00018066" "50" "726" "-2" "726" "-2" "c.726-2A>C" "r.spl" "p.?" "" "0000760200" "00018066" "70" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(His182Arg)" "" "0000760206" "00018066" "70" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "" "0000760217" "00018066" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000760307" "00018066" "70" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Ser)" "" "0000765551" "00018066" "90" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Gly104Ser)" "" "0000765591" "00018066" "90" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Tyr144*)" "" "0000765745" "00018066" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000765785" "00018066" "70" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "" "0000765800" "00018066" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000765801" "00018066" "70" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Asn321Lys)" "" "0000765837" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000765846" "00018066" "70" "1366" "0" "1366" "0" "c.1366del" "r.(?)" "p.(Glu456LysfsTer30)" "" "0000765923" "00018066" "70" "310" "0" "310" "0" "c.310G>C" "r.(?)" "p.(Gly104Arg)" "" "0000766072" "00018066" "70" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(His76Pro)" "" "0000766073" "00018066" "70" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000783267" "00018066" "90" "858" "1" "858" "1" "c.858+1G>T" "r.spl" "p.?" "8i" "0000783273" "00018066" "90" "1409" "0" "1409" "0" "c.1409C>T" "r.(?)" "p.(Pro470Leu)" "§3" "0000783789" "00018066" "90" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Tyr368Cys)" "" "0000783827" "00018066" "90" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Trp331Ter)" "" "0000783868" "00018066" "50" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000783869" "00018066" "50" "1303" "0" "1303" "0" "c.1303T>C" "r.(?)" "p.(Tyr435His)" "" "0000783871" "00018066" "50" "1338" "0" "1338" "0" "c.1338G>T" "r.(?)" "p.(Arg446Ser)" "" "0000783879" "00018066" "50" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000783901" "00018066" "90" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000783924" "00018066" "90" "906" "0" "907" "0" "c.906_907del" "r.(?)" "p.(Asn302LysfsTer17)" "" "0000783961" "00018066" "50" "1590" "0" "1590" "0" "c.1590C>A" "r.(?)" "p.(Phe530Leu)" "" "0000783962" "00018066" "50" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165Ter)" "" "0000783963" "00018066" "50" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000784552" "00018066" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "" "0000785391" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000785458" "00018066" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000785459" "00018066" "90" "361" "0" "361" "0" "c.361del" "r.(?)" "p.(Ser121LeufsTer6)" "" "0000786422" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000787625" "00018066" "70" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Gly104Asp)" "" "0000787682" "00018066" "70" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Thr306Ile)" "" "0000787700" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000787726" "00018066" "70" "912" "0" "912" "0" "c.912C>A" "r.(?)" "p.(Tyr304Ter)" "" "0000788093" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000788147" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000788174" "00018066" "70" "133" "0" "133" "0" "c.133T>C" "r.(?)" "p.(Cys45Arg)" "" "0000788311" "00018066" "50" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Cys106Tyr)" "4" "0000790316" "00018066" "50" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Asn321Lys)" "9" "0000790438" "00018066" "70" "1597" "0" "1597" "0" "c.1597T>A" "r.(?)" "p.(Ser533Thr)" "" "0000790596" "00018066" "50" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Val30Ala)" "" "0000790691" "00018066" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791221" "00018066" "70" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "4" "0000791229" "00018066" "70" "1339" "-3" "1339" "-3" "c.1339-3C>G" "r.spl?" "p.(?)" "12i" "0000791230" "00018066" "70" "1339" "-3" "1339" "-3" "c.1339-3C>G" "r.spl?" "p.(?)" "12i" "0000791259" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.(?)" "1i" "0000791262" "00018066" "90" "700" "0" "700" "0" "c.700C>T" "r.spl?" "p.(Arg234*)" "7" "0000791263" "00018066" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234*)" "7" "0000792062" "00018066" "90" "95" "-2" "95" "-2" "c.95-2A>T" "r.spl?" "p.?" "2i" "0000792063" "00018066" "90" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Thr153Ala)" "5" "0000792169" "00018066" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "4" "0000792182" "00018066" "10" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "4" "0000792186" "00018066" "10" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "4" "0000792196" "00018066" "10" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "4" "0000792351" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000792352" "00018066" "70" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000793897" "00018066" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "14" "0000793898" "00018066" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Tyr249Cys)" "8" "0000794212" "00018066" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Cys112Tyr)" "" "0000794213" "00018066" "70" "361" "0" "361" "0" "c.361dupT" "r.(?)" "p.(Ser121Phefs*10)" "" "0000794380" "00018066" "70" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Gly63Glu)" "3" "0000794991" "00018066" "50" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "4" "0000794992" "00018066" "50" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "4" "0000795957" "00018066" "30" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "11" "0000795974" "00018066" "70" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "3" "0000796030" "00018066" "90" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "3" "0000796031" "00018066" "90" "434" "0" "434" "0" "c.434C>A" "r.(?)" "p.(Ala145Asp)" "5" "0000796135" "00018066" "90" "361" "0" "362" "0" "c.361_362insT" "r.(?)" "p.(Ser121Phefs*10)" "5" "0000796136" "00018066" "90" "361" "0" "361" "0" "c.361del" "r.(?)" "p.(Ser121Leufs*6)" "5" "0000796140" "00018066" "70" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "5" "0000796142" "00018066" "90" "361" "0" "361" "0" "c.361del" "r.(?)" "p.(Ser121Leufs*6)" "5" "0000796143" "00018066" "90" "939" "0" "939" "0" "c.939T>A" "r.(?)" "p.(His313Gln)" "9" "0000796213" "00018066" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "11" "0000796214" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000796692" "00018066" "70" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Asn321Lys)" "9" "0000796711" "00018066" "70" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "5" "0000796793" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "4" "0000796876" "00018066" "90" "893" "0" "893" "0" "c.893del" "r.(?)" "p.(Lys298Serfs*27)" "9" "0000797182" "00018066" "50" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Trp37Ser)" "" "0000797183" "00018066" "50" "203" "0" "203" "0" "c.203A>C" "r.(?)" "p.(His68Pro)" "" "0000797205" "00018066" "50" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(His241Arg)" "" "0000797206" "00018066" "70" "825" "0" "825" "0" "c.825C>G" "r.(?)" "p.(Tyr275*)" "" "0000797413" "00018066" "70" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000797454" "00018066" "70" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Tyr249Cys)" "" "0000797455" "00018066" "70" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Asp)" "" "0000797816" "00018066" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000797818" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000798075" "00018066" "50" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asp110Gly)" "" "0000798076" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000798077" "00018066" "70" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000799505" "00018066" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "" "0000799506" "00018066" "90" "985" "0" "985" "0" "c.985del" "r.(?)" "p.(Cys329Alafs*15)" "" "0000811440" "00018066" "70" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Trp331*)" "" "0000811441" "00018066" "70" "" "0" "" "0" "c.(?_-1)_1128+1_1129-1)del" "r.spl" "p.(?)" "" "0000811841" "00018066" "70" "722" "0" "722" "0" "c.722A>T" "r.(?)" "p.(His241Leu)" "" "0000812364" "00018066" "70" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Thr306Ile)" "9" "0000812365" "00018066" "70" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "10" "0000812471" "00018066" "70" "1299" "0" "1299" "0" "c.1299T>A" "r.(?)" "p.(Tyr433*)" "12" "0000812473" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "10" "0000812474" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "10" "0000812482" "00018066" "70" "354" "-1" "354" "-1" "c.354-1G>A" "r.spl" "p.(?)" "4i" "0000812733" "00018066" "90" "998" "1" "998" "1" "c.998+1G>A" "r.spl" "p.(?)" "" "0000812780" "00018066" "90" "912" "0" "912" "0" "c.912C>A" "r.(?)" "p.(Tyr304*)" "" "0000812806" "00018066" "70" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000812837" "00018066" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000812838" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000813192" "00018066" "70" "726" "-3" "726" "-3" "c.726-3C>A" "r.spl?" "p.?" "7i" "0000813220" "00018066" "30" "1243" "45" "1243" "45" "c.1243+45T>G" "r.(=)" "p.(=)" "11i" "0000813221" "00018066" "30" "1339" "-48" "1339" "-48" "c.1339-48A>G" "r.(=)" "p.(=)" "12i" "0000813639" "00018066" "70" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000813640" "00018066" "70" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "" "0000813641" "00018066" "90" "1278" "0" "1278" "0" "c.1278T>A" "r.(?)" "p.(Tyr426*)" "" "0000813642" "00018066" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000813646" "00018066" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Gly40Asp)" "" "0000813657" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000813659" "00018066" "70" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Asp482Asn)" "" "0000813668" "00018066" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000813679" "00018066" "70" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Phe16Ser)" "" "0000813681" "00018066" "70" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Ser410Pro)" "" "0000813691" "00018066" "70" "1250" "0" "1250" "0" "c.1250A>T" "r.(?)" "p.(Glu417Val)" "" "0000813710" "00018066" "70" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Leu328Phe)" "" "0000813721" "00018066" "70" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0000813728" "00018066" "70" "1058" "0" "1058" "0" "c.1058T>A" "r.(?)" "p.(Val353Glu)" "" "0000813738" "00018066" "90" "768" "0" "768" "0" "c.768delA" "r.(?)" "p.(Val257Serfs*68)" "" "0000813739" "00018066" "90" "894" "0" "894" "0" "c.894delG" "r.(?)" "p.(Lys298Asnfs*27)" "" "0000813740" "00018066" "70" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Thr306Ile)" "" "0000813743" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000813751" "00018066" "70" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Glu417Gly)" "" "0000813752" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000813762" "00018066" "90" "361" "0" "361" "0" "c.361delT" "r.(?)" "p.(Ser121Leufs*6)" "" "0000813764" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000813779" "00018066" "90" "825" "0" "825" "0" "c.825C>A" "r.(?)" "p.(Tyr275*)" "" "0000813785" "00018066" "90" "1069" "0" "1080" "0" "c.1069_1080delGCCAGAAAGGCT" "r.(?)" "p.(Ala357_Ala360del)" "" "0000814769" "00018066" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "3" "0000814780" "00018066" "70" "725" "2" "725" "2" "c.725+2T>A" "r.spl" "p.(?)" "7i" "0000814785" "00018066" "70" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Trp460*)" "13" "0000814815" "00018066" "50" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ser468Leu)" "13" "0000815372" "00018066" "70" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000815441" "00018066" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "" "0000815980" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000816111" "00018066" "70" "-330" "0" "1128" "252" "c.-330_1128+252del" "r.spl" "p.(?)" "" "0000816325" "00018066" "70" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Ile206Thr)" "" "0000818456" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000818457" "00018066" "90" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000818939" "00018066" "70" "0" "0" "0" "0" "c.-54_*952{0}" "r.?" "p.?" "_1_14_" "0000818940" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "10" "0000819398" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "" "0000819406" "00018066" "70" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000819604" "00018066" "70" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Gly484Val)" "" "0000819605" "00018066" "70" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Gly484Val)" "" "0000819606" "00018066" "70" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Gly484Val)" "" "0000819644" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "" "0000820634" "00018066" "70" "725" "2" "725" "2" "c.725+2T>A" "r.spl" "p.(?)" "" "0000820636" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000820686" "00018066" "70" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000821381" "00018066" "70" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000821382" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "" "0000821455" "00018066" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362Ter)" "" "0000821601" "00018066" "70" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000822059" "00018066" "70" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234*)" "" "0000822931" "00018066" "70" "1451" "-2" "1451" "-2" "c.1451-2A>C" "r.spl" "p.(?)" "" "0000823230" "00018066" "50" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.(?)" "" "0000823231" "00018066" "50" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "" "0000823232" "00018066" "50" "1087" "0" "1087" "0" "c.1087C>A" "r.(?)" "p.(Pro363Thr)" "" "0000823276" "00018066" "50" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Asp167Tyr)" "" "0000823389" "00018066" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "0000823390" "00018066" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "" "0000823391" "00018066" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "" "0000823392" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000823393" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000823394" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000823395" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000823396" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000823397" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000823398" "00018066" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "0000823399" "00018066" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "0000823400" "00018066" "50" "1583" "0" "1583" "0" "c.1583G>T" "r.(?)" "p.(Gly528Val)" "" "0000823401" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000823402" "00018066" "90" "61" "0" "61" "0" "c.61G>T" "r.(?)" "p.(Glu21*)" "" "0000823403" "00018066" "90" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "" "0000823404" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000823405" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000823406" "00018066" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "0000823407" "00018066" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "0000823408" "00018066" "90" "1336" "0" "1336" "0" "c.1336dup" "r.(?)" "p.(Arg446Lysfs*4)" "" "0000823409" "00018066" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "0000823447" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000823448" "00018066" "50" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "" "0000823449" "00018066" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "0000823450" "00018066" "70" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000823451" "00018066" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "" "0000823452" "00018066" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "" "0000823453" "00018066" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "" "0000823454" "00018066" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "" "0000823515" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000823516" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000823517" "00018066" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Glu)" "" "0000823518" "00018066" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Glu)" "" "0000823519" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000823520" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000823521" "00018066" "50" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "" "0000823522" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000823523" "00018066" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Asp62Asn)" "" "0000823524" "00018066" "50" "1101" "0" "1101" "0" "c.1101A>G" "r.(?)" "p.(Arg367=)" "" "0000823547" "00018066" "50" "272" "0" "272" "0" "c.272G>C" "r.(?)" "p.(Arg91Pro)" "" "0000823548" "00018066" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000824266" "00018066" "50" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Asn356Lysfs*9)" "" "0000824317" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000824318" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000824319" "00018066" "90" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000825730" "00018066" "70" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Gly63Glu)" "3" "0000826131" "00018066" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Cys112Tyr)" "4" "0000826384" "00018066" "70" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Gly104Ser)" "4" "0000826507" "00018066" "90" "1088" "0" "1088" "0" "c.1088C>G" "r.(?)" "p.(Pro363Arg)" "10" "0000826514" "00018066" "90" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Pro35Leu)" "3" "0000826956" "00018066" "70" "1409" "0" "1409" "0" "c.1409C>G" "r.(?)" "p.(Pro470Arg)" "" "0000827330" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "5" "0000827331" "00018066" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234*)" "7" "0000827332" "00018066" "70" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Pro371Leu)" "10" "0000827333" "00018066" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "4" "0000828762" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000828852" "00018066" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000828853" "00018066" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Ser)" "" "0000828894" "00018066" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000828905" "00018066" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000828967" "00018066" "50" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Asp87Asn)" "" "0000829454" "00018066" "70" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Gly484Val)" "14" "0000829455" "00018066" "70" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "4" "0000829456" "00018066" "70" "106" "0" "106" "0" "c.106del" "r.(?)" "p.(Leu36Serfs*58)" "3" "0000829833" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "14" "0000843774" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "5" "0000843775" "00018066" "90" "1590" "0" "1590" "0" "c.1590del" "r.(?)" "p.(Phe530Leufs*40)" "14" "0000843776" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "10" "0000843777" "00018066" "90" "427" "0" "427" "0" "c.427T>G" "r.(?)" "p.(Tyr143Asp)" "5" "0000844317" "00018066" "70" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Glu95Gly)" "" "0000844318" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000844319" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000844320" "00018066" "70" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000844329" "00018066" "70" "361" "0" "361" "0" "c.361del" "r.(?)" "p.(Ser121Leufs*6)" "" "0000844624" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "" "0000844625" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000844626" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "" "0000844627" "00018066" "70" "271" "0" "272" "0" "c.271_272insA" "r.(?)" "p.(Arg91GlnfsTer5)" "" "0000844628" "00018066" "70" "651" "0" "651" "0" "c.651delA" "r.(?)" "p.(Asp218IlefsTer3)" "" "0000844629" "00018066" "70" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "" "0000844630" "00018066" "70" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102Ter)" "" "0000844631" "00018066" "70" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Tyr79His)" "" "0000844635" "00018066" "70" "271" "0" "272" "0" "c.271_272insA" "r.(?)" "p.(Arg91GlnfsTer5)" "" "0000844636" "00018066" "70" "271" "0" "272" "0" "c.271_272insA" "r.(?)" "p.(Arg91GlnfsTer5)" "" "0000844640" "00018066" "70" "1120" "0" "1120" "0" "c.1120del" "r.(?)" "p.(Ile374LeufsTer10)" "" "0000844641" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000844642" "00018066" "70" "90" "0" "91" "0" "c.90_91insT" "r.(?)" "p.(Thr31TyrfsTer21)" "" "0000844643" "00018066" "70" "1580" "0" "1580" "0" "c.1580A>G" "r.(?)" "p.(His527Arg)" "" "0000844644" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000844645" "00018066" "70" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Glu95Gln)" "" "0000846452" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000846453" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000846454" "00018066" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Trp)" "" "0000848828" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000848829" "00018066" "70" "675" "0" "675" "0" "c.675C>A" "r.(?)" "p.(Ile225=)" "" "0000848830" "00018066" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Val189Ile)" "" "0000848831" "00018066" "50" "542" "0" "542" "0" "c.542C>A" "r.(?)" "p.(Pro181His)" "" "0000848832" "00018066" "30" "95" "-10" "95" "-10" "c.95-10T>A" "r.(=)" "p.(=)" "" "0000857593" "00018066" "30" "675" "0" "675" "0" "c.675C>G" "r.(?)" "p.(Ile225Met)" "" "0000857594" "00018066" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Gly176=)" "" "0000868177" "00018066" "90" "887" "0" "888" "0" "c.887_888insA" "r.(?)" "p.(Lys297Glufs*6)" "" "0000868178" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000868180" "00018066" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "" "0000868182" "00018066" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "" "0000868183" "00018066" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "" "0000868184" "00018066" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102*)" "" "0000868185" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000868186" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0000868187" "00018066" "90" "495" "1" "495" "2" "c.495+1_495+2insG" "r.spl" "p.?" "" "0000868188" "00018066" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Ser)" "" "0000868189" "00018066" "90" "1444" "0" "1444" "0" "c.1444delGAT" "r.(?)" "p.(Asp483del)" "" "0000868190" "00018066" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Cys329Tyr)" "" "0000868191" "00018066" "90" "1067" "0" "1068" "0" "c.1067_1068insT" "r.(?)" "p.(Ala357Cysfs*8)" "" "0000868192" "00018066" "90" "725" "2" "725" "2" "c.725+2T>A" "r.spl" "p.?" "" "0000868193" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000868194" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000868195" "00018066" "90" "250" "0" "250" "0" "c.250A>T" "r.(?)" "p.(Ile84Phe)" "" "0000868196" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000868197" "00018066" "90" "1178" "0" "1178" "0" "c.1178C>G" "r.(?)" "p.(Ala393Gly)" "" "0000873059" "00018066" "70" "639" "0" "639" "0" "c.639dup" "r.(?)" "p.(Ala214Serfs*20)" "" "0000873062" "00018066" "70" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Leu328Phe)" "" "0000883564" "00018066" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000883565" "00018066" "90" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "" "0000883566" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.?" "" "0000896571" "00018066" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "" "0000896572" "00018066" "50" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Asp87Asn)" "" "0000896602" "00018066" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000896607" "00018066" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000896670" "00018066" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000896712" "00018066" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Ser)" "" "0000897876" "00018066" "70" "529" "0" "529" "0" "c.529del" "r.(?)" "p.(Ala177Profs*31)" "6" "0000905915" "00018066" "90" "886" "0" "886" "0" "c.886dup" "r.(?)" "p.(Arg296Lysfs*7)" "" "0000905916" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000905917" "00018066" "90" "886" "0" "886" "0" "c.886dup" "r.(?)" "p.(Arg296Lysfs*7)" "" "0000905918" "00018066" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000911122" "00018066" "30" "102" "0" "102" "0" "c.102C>A" "r.(?)" "p.(Ile34=)" "" "0000915805" "00018066" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(His182Tyr)" "6" "0000915838" "00018066" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(His182Tyr)" "6" "0000916090" "00018066" "50" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Thr105Asn)" "4" "0000916091" "00018066" "90" "858" "1" "858" "1" "c.858+1G>A" "r.spl?" "p.(?)" "8i" "0000916343" "00018066" "70" "414" "0" "414" "0" "c.414del" "r.(?)" "p.(Val139Trpfs*69)" "5" "0000916344" "00018066" "50" "1010" "0" "1010" "0" "c.1010T>C" "r.(?)" "p.(Val337Ala)" "10" "0000916459" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.(?)" "1i" "0000916460" "00018066" "90" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "10" "0000916516" "00018066" "90" "292" "0" "311" "0" "c.292_311del" "r.(?)" "p.(Ile98Hisfs*26)" "4" "0000916517" "00018066" "90" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(His313Arg)" "9" "0000916768" "00018066" "90" "675" "0" "675" "0" "c.675C>A" "r.(=)" "p.(Asp215Valfs*4)" "7" "0000916769" "00018066" "90" "886" "0" "886" "0" "c.886dup" "r.(?)" "p.(Arg296Lysfs*7)" "9" "0000928209" "00018066" "10" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "" "0000947292" "00018066" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000955421" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.[=|red,11_12ins[guaaa;11+6_11+124]]" "p.?" "1i" "0000958199" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.?" "" "0000958200" "00018066" "90" "825" "0" "825" "0" "c.825C>G" "r.(?)" "p.(Tyr275Ter)" "" "0000958202" "00018066" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102Ter)" "" "0000958204" "00018066" "90" "209" "0" "209" "0" "c.209T>C" "r.(?)" "p.(Phe70Ser)" "" "0000958319" "00018066" "70" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Glu95Gln)" "" "0000958375" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.?" "" "0000958544" "00018066" "90" "1307" "0" "1307" "0" "c.1307G>T" "r.(?)" "p.(Gly436Val)" "" "0000958547" "00018066" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000958611" "00018066" "70" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Ser)" "" "0000958622" "00018066" "70" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Gln4Ter)" "" "0000958623" "00018066" "50" "409" "0" "409" "0" "c.409T>C" "r.(?)" "p.(Tyr137His)" "" "0000958657" "00018066" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Tyr368His)" "" "0000958913" "00018066" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102Ter)" "" "0000958953" "00018066" "50" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(Glu335Gly)" "" "0000959036" "00018066" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Glu399Lys)" "" "0000959045" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl?" "p.?" "" "0000959349" "00018066" "50" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(His7Arg)" "" "0000959390" "00018066" "70" "200" "0" "200" "0" "c.200T>A" "r.(?)" "p.(Leu67Gln)" "" "0000961140" "00018066" "70" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Gly484Val)" "" "0000974090" "00018066" "30" "1243" "10" "1243" "10" "c.1243+10T>C" "r.(=)" "p.(=)" "" "0000974091" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0000991402" "00018066" "30" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Asn321Lys)" "" "0000991403" "00018066" "50" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Ile183Val)" "" "0000991404" "00018066" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Asp167Tyr)" "" "0001020304" "00018066" "90" "11" "5" "11" "5" "c.11+5G>A" "r.spl" "p.?" "" "0001032164" "00018066" "90" "715" "0" "715" "0" "c.715T>G" "r.(?)" "p.(Tyr239Asp)" "" "0001032165" "00018066" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Val189Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1446 "{{screeningid}}" "{{variantid}}" "0000001589" "0000019484" "0000024944" "0000047750" "0000024944" "0000047751" "0000033176" "0000060420" "0000033176" "0000060421" "0000033197" "0000060422" "0000033197" "0000060423" "0000033427" "0000060424" "0000033432" "0000060426" "0000033748" "0000060428" "0000033748" "0000060429" "0000033788" "0000060430" "0000033788" "0000060431" "0000033789" "0000060432" "0000038295" "0000790316" "0000052359" "0000082134" "0000052359" "0000082140" "0000052359" "0000714445" "0000052360" "0000082117" "0000052361" "0000082018" "0000052361" "0000082123" "0000052362" "0000081927" "0000052363" "0000082132" "0000052363" "0000082337" "0000052364" "0000081928" "0000052365" "0000081929" "0000052366" "0000081876" "0000052366" "0000082004" "0000052367" "0000082160" "0000052368" "0000081877" "0000052368" "0000081930" "0000052369" "0000082124" "0000052369" "0000082300" "0000052370" "0000081983" "0000052371" "0000082496" "0000052372" "0000081972" "0000052372" "0000082143" "0000052373" "0000081973" "0000052373" "0000082144" "0000052374" "0000082362" "0000052375" "0000081811" "0000052375" "0000082227" "0000052376" "0000081812" "0000052376" "0000082228" "0000052377" "0000082157" "0000052378" "0000082161" "0000052379" "0000082162" "0000052380" "0000081855" "0000052380" "0000082345" "0000052381" "0000082470" "0000052382" "0000082471" "0000052383" "0000082472" "0000052384" "0000082299" "0000052385" "0000082456" "0000052386" "0000082292" "0000052387" "0000082293" "0000052388" "0000082311" "0000052389" "0000082458" "0000052390" "0000082459" "0000052391" "0000082460" "0000052392" "0000082461" "0000052393" "0000082135" "0000052394" "0000082136" "0000052395" "0000082137" "0000052396" "0000082138" "0000052397" "0000082294" "0000052398" "0000082295" "0000052399" "0000082296" "0000052400" "0000082019" "0000052401" "0000082044" "0000052401" "0000082163" "0000052402" 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