### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GUCY2D)
# 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}}"
"GUCY2D"	"guanylate cyclase 2D, membrane (retina-specific)"	"17"	"p13.1"	"unknown"	"NG_009092.1"	"UD_132084440650"	""	"https://www.LOVD.nl/GUCY2D"	""	"1"	"4689"	"3000"	"600179"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>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/GUCY2D_NM_000180.3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00000"	"2012-02-13 00:00:00"	"00006"	"2020-01-14 12:13:34"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00001248"	"GUCY2D"	"guanylate cyclase 2D, membrane (retina-specific)"	"001"	"NM_000180.3"	""	"NP_000171.1"	""	""	""	"-74"	"3549"	"3312"	"7905988"	"7923658"	"00000"	"2012-09-13 13:21:26"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 17
"{{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"
"00128"	"CF"	"cystic fibrosis (CF)"	"AR"	"219700"	""	""	""	"00006"	"2013-05-14 09:22:43"	"00006"	"2021-12-10 21:51:32"
"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"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01646"	"LCA1"	"Leber congenital amaurosis, type 1 (LCA-1)"	"AR"	"204000"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"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"
"02389"	"CORD6"	"dystrophy, cone-rod, type 6 (CORD-6)"	"AD;AR"	"601777"	""	""	""	"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"	""	""
"04213"	"COD"	"dystrophy, cone (COD)"	""	""	""	""	""	"00006"	"2015-02-27 19:22:18"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04215"	"STGD"	"Stargardt disease (STGD)"	""	""	""	""	""	"00006"	"2015-02-27 20:01:12"	""	""
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"
"06327"	"CACD1"	"?Choroidal dystrophy, central areolar 1"	"AD"	"215500"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""
"06381"	"CSNB1I"	"Night blindness, congenital stationary, type 1I"	"AR"	"618555"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{geneid}}"	"{{diseaseid}}"
"GUCY2D"	"00058"
"GUCY2D"	"01646"
"GUCY2D"	"02389"
"GUCY2D"	"04210"
"GUCY2D"	"06327"
"GUCY2D"	"06381"


## Individuals ## Do not remove or alter this header ##
## Count = 824
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00016609"	""	""	""	"1"	""	"00552"	""	""	""	""	""	""	"0"	""	""	""	""
"00033098"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033104"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033123"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033130"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033132"	""	""	""	"1"	""	"00229"	"{PMID:Neveling 2012:22334370}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00033138"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033139"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033141"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033150"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033151"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033152"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033154"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033160"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033163"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033167"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033169"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033616"	""	""	""	"2"	""	"00243"	""	""	"M"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033637"	""	""	""	"13"	""	"01244"	"{PMID:de Castro-Miró 2014:24516651}"	""	""	"-"	"Spain"	""	"0"	""	""	""	""
"00033694"	""	""	""	"1"	""	"00243"	""	""	"M"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033695"	""	""	""	"1"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033696"	""	""	""	"1"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033697"	""	""	""	"1"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033698"	""	""	""	"1"	""	"00243"	""	""	"M"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033699"	""	""	""	"1"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033700"	""	""	""	"2"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033701"	""	""	""	"1"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00033702"	""	""	""	"1"	""	"00243"	""	""	"M"	"no"	"India"	""	"0"	""	""	"India, south"	""
"00038052"	""	""	""	"2"	""	"01251"	"{PMID:Vallespin 2007:18055816}"	""	"M"	"?"	"Spain"	""	"0"	""	""	"Spanish"	""
"00038053"	""	""	""	"2"	""	"01251"	"{PMID:Vallespin 2007:18055816}"	""	"M"	"?"	"Spain"	""	"0"	""	""	"Spanish"	""
"00038054"	""	""	""	"2"	""	"01251"	"{PMID:Vallespin 2007:18055816}"	""	"?"	"?"	"Spain"	""	"0"	""	""	"Spanish"	""
"00038069"	""	""	""	"4"	""	"01251"	"{PMID:Vallespin 2007:18055816}"	""	"?"	"?"	"Spain"	""	"0"	""	""	"Spanish"	""
"00038305"	""	""	""	"1"	""	"01251"	"{PMID:Jinda 2014:24618324}"	""	"F"	"no"	"Thailand"	""	"0"	""	""	"Thai"	""
"00052513"	""	""	""	"1"	""	"01424"	"{PMID:Silva 2004:15512997}"	""	"F"	"yes"	"Greece"	""	"0"	""	""	"Greek"	""
"00052946"	""	""	""	"1"	""	"01424"	"{PMID:Wang 2014:25097241}"	""	"?"	"?"	"United States"	""	"0"	""	""	""	"CaseV"
"00078524"	""	""	""	"1"	""	"00105"	""	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin"	""
"00100069"	""	""	""	"1"	""	"01769"	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"PKRD077;61077"
"00100073"	""	""	""	"1"	""	"01769"	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"PKRD103;61103"
"00104989"	""	""	""	"1"	""	"01244"	"{PMID:de Castro-Miró 2014:28005958}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"58ORG1"
"00155475"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"African-N;Jewish"	""
"00155476"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Beduin"	""
"00155477"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Jewish-Oriental"	""
"00155478"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00155479"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00207590"	""	""	""	"3"	""	"01244"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00207662"	""	""	""	"1"	""	"01244"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00207680"	""	""	""	"1"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00207685"	""	""	""	"1"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00240438"	""	""	""	"1"	""	"03335"	""	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00240439"	""	""	""	"1"	""	"03335"	""	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00240440"	""	""	""	"1"	""	"03335"	""	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00240441"	""	""	""	"1"	""	"03335"	""	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00269474"	""	""	""	"1"	""	"03508"	""	""	""	""	""	""	"0"	""	""	""	""
"00269541"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269542"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269543"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269567"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269568"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269569"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269570"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269571"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269591"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00275683"	""	""	""	"1"	""	"03552"	"affected mother and child"	""	"F"	"no"	"Poland"	">10y"	"0"	"yes"	""	"slavic"	""
"00291891"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291892"	""	""	""	"7"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00303622"	""	""	""	"2"	""	"00006"	"{PMID:Makrythanasis 2014:25044680}"	"family, 2 affected"	""	"yes"	"Jordan"	""	"0"	""	""	""	"Family_29"
"00304612"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308381"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC00324"
"00308382"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC03249"
"00308383"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC04347"
"00308384"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC04918"
"00308385"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC00597"
"00308512"	""	""	""	"5"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"5 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308634"	""	""	""	"2"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"2 homozygous patients"	""	""	"Norway"	""	"0"	""	""	""	""
"00308658"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}"	""	""	""	"Korea"	""	"0"	""	""	""	""
"00308659"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}"	""	""	""	"Korea"	""	"0"	""	""	""	""
"00308752"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00309175"	""	""	""	"9"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"9 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309176"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309177"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309178"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309179"	""	""	""	"5"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"5 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309180"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309181"	""	""	""	"6"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"6 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309182"	""	""	""	"4"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"4 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309183"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309184"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309185"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309186"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309187"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309188"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309673"	""	""	""	"7"	""	"00004"	"{PMID:Lazar 2015:25515582}"	"3-generation family, 7 affected (5F, 2M)"	"F;M"	""	"Turkey"	""	"0"	""	""	"Jewish"	"MOL0490"
"00309674"	""	""	""	"2"	""	"00004"	"{PMID:Lazar 2015:25515582}"	"3-generation family, 2 affected (F, M)"	"F;M"	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0859"
"00309675"	""	""	""	"3"	""	"00004"	"{PMID:Lazar 2015:25515582}"	"2-generation family, 3 affected (3M)"	"M"	""	"Israel"	""	"0"	""	""	"Arab Muslim"	"MOL1103"
"00309676"	""	""	""	"6"	""	"00004"	"{PMID:Lazar 2015:25515582}"	"4-generation family, 6 affected (3F, 3M)"	"F;M"	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0083"
"00309677"	""	""	""	"1"	""	"00004"	"{PMID:Lazar 2015:25515582}"	"2-generation family, 1 affected"	"M"	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0248"
"00309678"	""	""	""	"1"	""	"00004"	"{PMID:Lazar 2015:25515582}"	"family, 1 affected"	"M"	""	""	""	"0"	""	""	"Africa-N;Jewish"	"MOL0430"
"00309679"	""	""	""	"2"	""	"00004"	"{PMID:Lazar 2015:25515582}"	"4-generation family, 2 affected (F, M)"	"F;M"	"yes"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0508"
"00325431"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"1985"
"00325433"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"2257"
"00325435"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"2566"
"00325477"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"3525"
"00325512"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"3961"
"00327937"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240067"
"00328005"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Africa"	"G001042"
"00328043"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G001409"
"00328075"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G004991"
"00328461"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"family history retinal disease"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15016089"
"00328490"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15014189"
"00331279"	""	""	""	"1"	""	"00000"	"{PMID:Maeda 2018:29785639}"	"family"	"M"	""	"Japan"	""	"0"	""	""	""	"Pat33"
"00331933"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat71"
"00332028"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat166"
"00332029"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat167"
"00332030"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat168"
"00332031"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat169"
"00332032"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat170"
"00332033"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat171"
"00332199"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB282"
"00332225"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB40"
"00332263"	""	""	""	"1"	""	"00000"	"{PMID:Porto 2017:29186038}"	"proband"	""	""	"Brazil"	""	"0"	""	""	""	"Fam6PatFBP_4"
"00332361"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam535"
"00332362"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam1836"
"00332363"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam2019"
"00332364"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam2123"
"00332365"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam2599"
"00332380"	""	""	""	"1"	""	"00000"	"{PMID:Rim 2017:29145603}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat1"
"00332381"	""	""	""	"1"	""	"00000"	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat3;Pat2;Pat2"
"00332382"	""	""	""	"1"	""	"00000"	"{PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat3"
"00332383"	""	""	""	"1"	""	"00000"	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat2;Pat4;Pat4"
"00332384"	""	""	""	"1"	""	"00000"	"{PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat5"
"00332462"	""	""	""	"1"	""	"00000"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat25"
"00332472"	""	""	""	"1"	""	"00000"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat42"
"00332496"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2018:29068140}"	""	""	""	"Finland"	""	"0"	""	""	""	"Pat21"
"00332497"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2018:29068140}"	""	""	""	"Finland"	""	"0"	""	""	""	"Pat22"
"00333359"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat10"
"00333365"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat7"
"00333390"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD14–08"
"00333403"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD13–05"
"00333422"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD11–06"
"00333585"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"294"
"00333631"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"386"
"00333632"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"387"
"00333925"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"348"
"00334561"	""	""	""	"1"	""	"00000"	"{PMID:Jinda 2017:28453600}"	"patient"	""	""	"Thailand"	""	"0"	""	""	""	"RP022"
"00335117"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"yes"	"Netherlands"	""	"0"	""	""	""	"7260"
"00335118"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"9630"
"00335119"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"8432"
"00335120"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"8129"
"00335121"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"1132"
"00335122"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"6297"
"00335214"	""	""	""	"2"	""	"00000"	"{PMID:Riera 2017:28181551}"	"family, several affected"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/01"
"00335215"	""	""	""	"2"	""	"00000"	"{PMID:Riera 2017:28181551}"	"family, several affected"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/02"
"00335276"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"family"	""	""	"Spain"	""	"0"	""	""	""	"Pat12"
"00335304"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Pat39"
"00335305"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Pat83"
"00335592"	""	""	""	"1"	""	"00008"	"{PMID:Booij 2005:16272259}"	"unknown variant 2nd chromosome; not in 60 controls"	""	""	""	""	"0"	""	""	""	""
"00335595"	""	""	""	"1"	""	"00008"	"{PMID:Booij 2005:16272259}"	"unknown variant 2nd chromosome; not in 60 controls"	""	""	""	""	"0"	""	""	""	""
"00335596"	""	""	""	"1"	""	"00008"	"{PMID:Booij 2005:16272259}"	"unknown variant 2nd chromosome; not in 60 controls"	""	""	""	""	"0"	""	""	""	""
"00335597"	""	""	""	"1"	""	"00008"	"{PMID:Booij 2005:16272259}"	"unknown variant 2nd chromosome; not in 60 controls"	""	""	""	""	"0"	""	""	""	""
"00335598"	""	""	""	"1"	""	"00008"	"{PMID:Booij 2005:16272259}"	""	""	""	""	""	"0"	""	""	""	""
"00335599"	""	""	""	"1"	""	"00008"	"{PMID:Yamanoshita 2005:22008105}"	""	""	""	""	""	"0"	""	""	""	""
"00335600"	""	""	""	"1"	""	"00008"	"{PMID:Yamanoshita 2005:22008105}"	""	""	""	""	""	"0"	""	""	""	""
"00335601"	""	""	""	"1"	""	"00008"	"{PMID:Booij 2005:16272259}"	""	""	""	""	""	"0"	""	""	""	""
"00335602"	""	""	""	"1"	""	"00008"	"Perrault 1996"	""	""	""	""	""	"0"	""	""	""	""
"00335611"	""	""	""	"1"	""	"00008"	"{PMID:Yamanoshita 2005:22008105}"	""	""	""	""	""	"0"	""	""	""	""
"00335612"	""	""	""	"1"	""	"00008"	"{PMID:Loyer 1998:9580558}"	""	""	""	""	""	"0"	""	""	""	""
"00335613"	""	""	""	"1"	""	"00008"	"{PMID:Yamanoshita 2005:22008105}"	""	""	""	""	""	"0"	""	""	""	""
"00335623"	""	""	""	"1"	""	"00008"	"{PMID:Yzer 2006:16505055}"	""	""	""	""	""	"0"	""	""	"white (dutch, belgian or german)"	""
"00335624"	""	""	""	"1"	""	"00008"	"{PMID:Yzer 2006:16505055}"	""	""	"yes"	""	""	"0"	""	""	"white (dutch, belgian or german)"	""
"00335625"	""	""	""	"1"	""	"00008"	"{PMID:Yzer 2006:16505055}"	""	""	""	""	""	"0"	""	""	"white (dutch, belgian or german)"	""
"00335626"	""	""	""	"1"	""	"00008"	"{PMID:Yzer 2006:16505055}"	""	""	""	""	""	"0"	""	""	"white (dutch, belgian or german)"	""
"00335627"	""	""	""	"1"	""	"00008"	"{PMID:Yzer 2006:16505055}"	""	""	""	""	""	"0"	""	""	"white (dutch, belgian or german)"	""
"00335628"	""	""	""	"1"	""	"00008"	"{PMID:Yzer 2006:16505055}"	""	""	"yes"	""	""	"0"	""	""	"white (dutch, belgian or german)"	""
"00335976"	""	""	""	"2"	""	"00000"	"{PMID:Sergouniotis 2016:27628848}"	"analysis 486 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00358898"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	"yes"	"China"	""	"0"	""	""	"Han"	"Fam10"
"00358899"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam11"
"00358900"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam12"
"00358901"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam13"
"00358902"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam14"
"00358903"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam15"
"00359001"	""	""	""	"5"	""	"00006"	"{PMID:Abdulridha-Aboud 2016:27212874}"	"4-generation family, 5 affected (4F, 1M)"	"F"	""	"Sweden"	""	"0"	""	""	""	"FamBPatII1"
"00359008"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13010246"
"00359009"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13011432"
"00359015"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13017391"
"00359054"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"83830"
"00359057"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13017541"
"00359062"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13015209"
"00359072"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13005787"
"00359088"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13002684"
"00359100"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13002649"
"00359101"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13005797"
"00359184"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"11006503"
"00362068"	""	""	""	"8"	""	"00006"	"{PMID:Xiao 2011:22194653}, {PMID:Huang 2016:26992781}"	"3-generation family, 8 affected (4F, 4M)"	"F;M"	""	"China"	""	"0"	""	""	""	"QT241"
"00362069"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2013:23563732}, {PMID:Huang 2016:26992781}"	"2-generation family, 1 affected"	"M"	""	"China"	""	"0"	""	""	""	"Fam2;QT789"
"00362070"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT1158"
"00362071"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT1192"
"00362072"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2013:23563732}, {PMID:Huang 2016:26992781}"	"2-generation family, 3 affected (F, 2M)"	"F;M"	""	"China"	""	"0"	""	""	""	"Fam1;RP239F"
"00362160"	""	""	""	"8"	""	"00000"	"{PMID:Oishi 2016:26957898}"	"4-generation family, 8 affected (4F, 4M)"	"F;M"	""	"Japan"	""	"0"	""	""	""	"K3341"
"00362187"	""	""	""	"1"	""	"00000"	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-1142"
"00362904"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"ZD396"
"00363347"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM852"
"00363574"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"08DG00275"
"00363644"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG0880"
"00363719"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG2474"
"00363733"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"13DG0637"
"00372069"	""	""	""	"1"	""	"00000"	"{PMID:Srilekha 2015:26147992}"	"family"	""	"yes"	"India"	""	"0"	""	""	"India-S"	"FamLCA-3"
"00372412"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"163"
"00372413"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"764"
"00372434"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"157"
"00372435"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"691"
"00372436"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"1686901"
"00372437"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"1625818"
"00372471"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"1686493"
"00372472"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"xh14070"
"00372473"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"xh19814"
"00372474"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"1558659"
"00372475"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"477"
"00372476"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"596"
"00372477"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"623"
"00372489"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"212"
"00373362"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373407"	""	""	""	"2"	""	"00000"	"{PMID:Maria 2015:25775262}"	"family"	""	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam03"
"00374987"	""	""	""	"1"	""	"00006"	"{PMID:Duncker 2015:25283059}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	"Pat23"
"00375440"	""	""	""	"1"	""	"00000"	"{PMID:Watson 2014:25133751}"	"family"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"MA9"
"00375460"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:24997176}"	""	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat3"
"00375462"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:24997176}"	""	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat5"
"00375463"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:24997176}"	""	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat9"
"00375466"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:24997176}"	""	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat12"
"00375471"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:24997176}"	""	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat17"
"00375506"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"CRDPat1, dominant"
"00375507"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"CRDPat2, dominant"
"00375508"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"CRDPat3, dominant"
"00375509"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"CRDPat4, dominant"
"00375510"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"CRDPat5, dominant"
"00375511"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"CRDPat27, dominant"
"00376278"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376279"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376280"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376281"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376282"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376283"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376284"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376465"	""	""	""	"1"	""	"00000"	"{PMID:Li-2009:18936139}"	""	""	""	""	""	"0"	""	""	"Saudi Arabian"	""
"00376466"	""	""	""	"1"	""	"00000"	"{PMID:Li-2009:18936139}"	""	""	""	""	""	"0"	""	""	"Saudi Arabian"	""
"00376467"	""	""	""	"1"	""	"00000"	"{PMID:Li-2009:18936139}"	""	""	""	""	""	"0"	""	""	"Saudi Arabian"	""
"00376470"	""	""	""	"1"	""	"00000"	"{PMID:Li-2009:18936139}"	""	""	""	""	""	"0"	""	""	"Saudi Arabian"	""
"00376474"	""	""	""	"1"	""	"00000"	"{PMID:Li-2009:18936139}"	""	""	""	""	""	"0"	""	""	"Saudi Arabian"	""
"00376717"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376718"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376719"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376723"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376724"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376725"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376726"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376727"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2007:18055816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00376763"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"25"
"00376811"	""	""	""	"1"	""	"00000"	"{PMID:Daiger 2014:24664689}"	""	""	""	"United States"	""	"0"	""	""	""	"VCH012"
"00376818"	""	""	""	"1"	""	"00000"	"{PMID:Daiger 2014:24664689}"	""	""	""	"United States"	""	"0"	""	""	""	"RFS066"
"00377178"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"244"
"00377182"	""	""	""	"5"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"256"
"00377183"	""	""	"00377182"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"father\'s brother\'s daugther"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"489"
"00377184"	""	""	"00377182"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"father\'s brother"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"561"
"00377185"	""	""	"00377182"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"father"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"562"
"00377186"	""	""	"00377182"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"paternal grandmother"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"769"
"00377239"	""	""	""	"2"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"346"
"00377240"	""	""	"00377239"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"mother"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"699"
"00377522"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE63"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE63"
"00377531"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE139"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE139"
"00377542"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family LCA1Ha"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"Twin 1"
"00377543"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"twin sister of Twin 1"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"Twin 2"
"00377721"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2011:20861475}"	""	""	"no"	""	""	"0"	""	""	"white"	""
"00377874"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"yes"	"China"	""	"0"	""	""	"Chinese"	""
"00377875"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377876"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377877"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377878"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377879"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377880"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377888"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377889"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377904"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"Galvin et al., 2005"	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377905"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377906"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377909"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377910"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377955"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00377956"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	"false positive, not found by Sanger"	""	""	""	""	"0"	""	""	""	""
"00379680"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0071"
"00379841"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016061403"
"00381006"	""	""	""	"1"	""	"00000"	"{PMID:Schorderet-2013:23484092}"	""	""	""	"Switzerland"	""	"0"	""	""	"Swiss, Algerian or Tunisian"	""
"00381026"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381028"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381029"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381040"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381041"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381044"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381050"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381084"	""	""	""	"1"	""	"00000"	"{PMID:Jonsson-2013:23443024}"	""	"F"	""	"Sweden"	""	"0"	""	""	"Swedish"	""
"00381146"	""	""	""	"1"	""	"00008"	"{PMID:Verma-2013:24066033}"	""	"M"	"yes"	"India"	""	"0"	""	""	"South Indian"	""
"00381152"	""	""	""	"1"	""	"00008"	"{PMID:Verma-2013:24066033}"	""	"M"	"no"	"India"	""	"0"	""	""	"South Indian"	""
"00381153"	""	""	""	"1"	""	"00008"	"{PMID:Verma-2013:24066033}"	""	"F"	"yes"	"India"	""	"0"	""	""	"South Indian"	""
"00381187"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381188"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381189"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381208"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381221"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel missense mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381222"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel missense mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381223"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel missense mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381224"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel missense mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381625"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381628"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00381633"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"?"	"Saudi Arabia"	""	"0"	""	""	""	""
"00381634"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00381665"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381670"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Morocco"	""	"0"	""	""	""	""
"00381672"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00382135"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2019:30653986}"	""	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"90"
"00382313"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"142"
"00382314"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"143"
"00382315"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"144"
"00382551"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"413"
"00382799"	""	""	""	"1"	""	"00000"	"{PMID:Song-2011:22025579}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383504"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00383505"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00383853"	""	""	""	"1"	""	"00000"	"{PMID:Nasser 2019:30945053}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"4"
"00383854"	""	""	""	"1"	""	"00000"	"{PMID:Nasser 2019:30945053}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"5"
"00384191"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066607"
"00384196"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066858"
"00384237"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"12942"
"00384402"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14309"
"00384564"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop A"	"M"	""	""	""	"0"	""	""	""	"DL1A-III1"
"00384565"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop A"	"M"	""	""	""	"0"	""	""	""	"DL1A-III2"
"00384566"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop B"	"F"	""	""	""	"0"	""	""	""	"DL1B-II3"
"00384567"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop B"	"M"	""	""	""	"0"	""	""	""	"DL1B-II4"
"00384568"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband, loop C"	"M"	""	""	""	"0"	""	""	""	"DL1C-II2"
"00384569"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband"	"F"	""	""	""	"0"	""	""	""	"DL2-III1"
"00384570"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband"	"M"	""	""	""	"0"	""	""	""	"DL3-II1"
"00384571"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s brother"	"M"	""	""	""	"0"	""	""	""	"DL3-II5"
"00384633"	""	""	""	"1"	""	"00000"	"{PMID:Ehrenberg 2019:31814694}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	""	"Family 11 patient 1"
"00384994"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"10251"
"00385042"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19683"
"00385059"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19992"
"00385064"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67040"
"00385071"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67170"
"00385072"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"yes"	"China"	""	"0"	""	""	""	"67180"
"00385077"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67250"
"00385079"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67290"
"00385627"	""	""	""	"1"	""	"00000"	"{PMID:de Castro-Miró-2014:24516651}"	""	""	""	""	""	"0"	""	""	""	"9RE"
"00385848"	""	""	""	"1"	""	"00000"	"{PMID:Cho 2020:32000842}"	""	"F"	""	"(United States)"	""	"0"	""	""	""	"25"
"00385962"	""	""	""	"1"	""	"00000"	"{PMID:Shanks-2013:22968130}"	"Affected daughter"	""	""	""	""	"0"	""	""	""	""
"00386170"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-125, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-282"
"00386298"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-49"
"00387657"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"45"
"00388156"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"13"
"00388157"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"14"
"00388158"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"M"	""	"Korea"	""	"0"	""	""	""	"15"
"00388159"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"F"	""	"Korea"	""	"0"	""	""	""	"16"
"00388160"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"F"	""	"Korea"	""	"0"	""	""	""	"17"
"00388161"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"M"	""	"Korea"	""	"0"	""	""	""	"18"
"00388162"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"F"	""	"Korea"	""	"0"	""	""	""	"19"
"00388163"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"20;Pat51"
"00388164"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"21;Pat52"
"00388183"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"40"
"00388912"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"196"
"00388913"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"197"
"00388914"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"198"
"00388915"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"199"
"00388916"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"200"
"00389070"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 119, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"354"
"00389071"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 119, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"355"
"00389072"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 119, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"356"
"00389236"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 174, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"520"
"00389615"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 378, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"899"
"00389616"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 378, cone dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"900"
"00389698"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 446, cone dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"982"
"00390278"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001042"
"00390279"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001409"
"00390737"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2020:32641690}"	"Family F2, patient II.2"	"M"	""	"Tunisia"	""	"0"	""	""	""	"F2_II.2"
"00390764"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390807"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390839"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	""
"00390971"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	""
"00391165"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"127"
"00391166"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"128"
"00391167"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"129"
"00391168"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"130"
"00391169"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"131"
"00391170"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"132"
"00391345"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"1"
"00391576"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"73"
"00391641"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"39"
"00391642"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"40"
"00391643"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"40"
"00391644"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"41"
"00391645"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"42"
"00391646"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"43"
"00391647"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"44"
"00391648"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"45"
"00391649"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"46"
"00391650"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"47"
"00391651"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"48"
"00391728"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"115"
"00392561"	""	""	""	"1"	""	"00000"	"{PMID:Verdina 2021:33688152}"	"family S, daughter of P13"	"F"	""	"Italy"	""	"0"	""	""	""	"P14"
"00392566"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"4"
"00393481"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393630"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00395886"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F195"
"00395914"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F255"
"00395938"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F290"
"00396215"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00396219"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"M"	""	""	""	"0"	""	""	"Polish"	""
"00396222"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"M"	""	""	""	"0"	""	""	"Polish"	""
"00396225"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00396554"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00405994"	""	""	""	"1"	""	"00000"	"{PMID:Yzer-2005:16505055}"	""	""	""	""	""	"0"	""	""	""	"13"
"00405995"	""	""	""	"1"	""	"00000"	"{PMID:Yzer-2005:16505055}"	""	""	""	""	""	"0"	""	""	""	"14"
"00405996"	""	""	""	"1"	""	"00000"	"{PMID:Yzer-2005:16505055}"	""	""	""	""	""	"0"	""	""	""	"15"
"00405997"	""	""	""	"1"	""	"00000"	"{PMID:Yzer-2005:16505055}"	""	""	""	""	""	"0"	""	""	""	"16"
"00405998"	""	""	""	"1"	""	"00000"	"{PMID:Yzer-2005:16505055}"	""	""	""	""	""	"0"	""	""	""	"17"
"00405999"	""	""	""	"1"	""	"00000"	"{PMID:Yzer-2005:16505055}"	""	""	""	""	""	"0"	""	""	""	"18"
"00406237"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 1 (MU01), 1-II:2 (Patient 1)"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"1-II:2 (Patient 1)"
"00406238"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 2 (TMC01), 2-II:2 (Patient 2)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"2-II:2 (Patient 2)"
"00406239"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 3 (NU01), 3-II:7 (Patient 3)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"3-II:7 (Patient 3)"
"00406240"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 4 (KDU01), 4-III:1 (Patient 4)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"4-III:1 (Patient 4)"
"00406241"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 4 (KDU01), 4-II:2 (Patient 5)"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"4-II:2 (Patient 5)"
"00406242"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 5 (GU01), 5-III:5 (Patient 6)"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"5-III:5 (Patient 6)"
"00406243"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 6 (TMC02), 6-III:1 (Patient 7)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"6-III:1 (Patient 7)"
"00406244"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 7 (JU01), 7-II:5 (Patient 8)"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"7-II:5 (Patient 8)"
"00406245"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 7 (JU01), 7-II:3 (Patient 9)"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"7-II:3 (Patient 9)"
"00406246"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 7 (JU01), 7-I:2 (Patient 10)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"7-I:2 (Patient 10)"
"00406247"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 8 (JU02), 8-II:2 (Patient 11)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"8-II:2 (Patient 11)"
"00406248"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 9 (KDU02), 9-III:3 (Patient 12)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"9-III:3 (Patient 12)"
"00406249"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 10 (TMC03), 10-II:2 (Patient 13)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"10-II:2 (Patient 13)"
"00406250"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 11 (NU02)  11-II:2 (Patient 14)"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"11-II:2 (Patient 14)"
"00406251"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32821499}"	"family 12 (MU02) 12-II:5 (Patient 15)"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"12-II:5 (Patient 15)"
"00406252"	""	""	""	"1"	""	"00000"	"{PMID:Feng 2020:32255808}"	"family 1, III:1 (proband\'s older sister)"	"F"	""	""	""	"0"	""	""	""	"III:1"
"00406253"	""	""	""	"1"	""	"00000"	"{PMID:Feng 2020:32255808}"	"family 1, III:2 (proband)"	"F"	""	""	""	"0"	""	""	""	"III:2"
"00406254"	""	""	""	"1"	""	"00000"	"{PMID:Feng 2020:32255808}"	"family 1, III:3 (proband\'s paternal IIIrd degree cousin)"	"M"	""	""	""	"0"	""	""	""	"III:3"
"00406255"	""	""	""	"1"	""	"00000"	"{PMID:Salehi 2019:31844802}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	"II-1"
"00406256"	""	""	""	"1"	""	"00000"	"{PMID:Tsokolas 2018:30588428}"	"Family 1, father of proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"II:1"
"00406257"	""	""	""	"1"	""	"00000"	"{PMID:Tsokolas 2018:30588428}"	"Family 1, proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"III:1"
"00406258"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"cell line from family MOL0064 (seven patients)"	"M"	""	"Israel"	""	"0"	""	""	""	"MOL0064 II:1"
"00406259"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"cell line from family MOL0064 (seven patients)"	"M"	""	"Israel"	""	"0"	""	""	""	"MOL0064 III:2"
"00406260"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"cell line from family MOL0064 (seven patients)"	"F"	""	"Israel"	""	"0"	""	""	""	"MOL0064 III:3"
"00406261"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"cell line from family MOL0064 (seven patients)"	"F"	""	"Israel"	""	"0"	""	""	""	"MOL0064 IV:1"
"00406262"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"cell line from family MOL0308"	"M"	""	"Israel"	""	"0"	""	""	""	"MOL0308 II:1"
"00406263"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"cell line from family MOL0430 (one patient)"	"M"	""	"Israel"	""	"0"	""	""	""	"MOL0430-1"
"00406264"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"family already reported in Lazar et al.. 2014; cell line from family MOL0508 (two patients)"	"F"	""	"Israel"	""	"0"	""	""	""	"MOL0508-1"
"00406265"	""	""	""	"1"	""	"00000"	"{PMID:Wimberg 2018:30319355}"	"cell line unknown source"	""	""	"Israel"	""	"0"	""	""	""	"?"
"00406266"	""	""	""	"1"	""	"00000"	"{PMID:Aguirre 2016:28403437}"	""	"F"	""	""	""	"0"	""	""	""	"P5"
"00406267"	""	""	""	"1"	""	"00000"	"{PMID:Aguirre 2016:28403437}"	""	"F"	""	""	""	"0"	""	""	""	"P6"
"00406268"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 33"	"F"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"33"
"00406269"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 34"	"F"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"34"
"00406270"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 32"	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"32"
"00406271"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 40"	"F"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"40"
"00406272"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 11"	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"11"
"00406273"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 12"	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"12"
"00406274"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 20"	"F"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"20"
"00406275"	""	""	""	"1"	""	"00000"	"{PMID:Gradstein 2016:27475985}"	"Family 1, individual 19"	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin-Israeli"	"19"
"00406276"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10069, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"10069_II:1"
"00406277"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10125, individual III:1"	"F"	""	"China"	""	"0"	""	""	""	"10125_III:1"
"00406278"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10125, individual III:4"	"F"	""	"China"	""	"0"	""	""	""	"10125_III:4"
"00406279"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 010043, individual"	"F"	""	"China"	""	"0"	""	""	""	"010043*_"
"00406280"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10147, individual III:1"	"M"	""	"China"	""	"0"	""	""	""	"10147_III:1"
"00406281"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10176, individual III:8"	"M"	""	"China"	""	"0"	""	""	""	"10176_III:8"
"00406282"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 77065, individual II:3"	"F"	""	"China"	""	"0"	""	""	""	"77065_II:3"
"00406283"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 77065, individual II:4"	"M"	""	"China"	""	"0"	""	""	""	"77065_II:4"
"00406284"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 77065, individual II:5"	"M"	""	"China"	""	"0"	""	""	""	"77065_II:5"
"00406285"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 010097, individual"	"F"	""	"China"	""	"0"	""	""	""	"010097*_"
"00406286"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10153, individual III:3"	"M"	""	"China"	""	"0"	""	""	""	"10153_III:3"
"00406287"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10153, individual III:1"	"F"	""	"China"	""	"0"	""	""	""	"10153_III:1"
"00406288"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10153, individual IV:1"	"F"	""	"China"	""	"0"	""	""	""	"10153_IV:1"
"00406289"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 10153, individual IV:2"	"F"	""	"China"	""	"0"	""	""	""	"10153_IV:2"
"00406290"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 87, individual II:1"	"F"	""	"China"	""	"0"	""	""	""	"87_II:1"
"00406291"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 87, individual II:4"	"M"	""	"China"	""	"0"	""	""	""	"87_II:4"
"00406292"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2015:26298565}"	"family 87, individual III:2"	"M"	""	"China"	""	"0"	""	""	""	"87_III:2"
"00406293"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:25189253}"	"family 1, indiviual IV:1"	"F"	""	"Pakistan"	""	"0"	""	""	""	"IV:1"
"00406294"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:25189253}"	"family 1, indiviual IV:10"	"M"	""	"Pakistan"	""	"0"	""	""	""	"IV:10"
"00406295"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:25189253}"	"family 1, indiviual IV:12"	"F"	""	"Pakistan"	""	"0"	""	""	""	"IV:12"
"00406296"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2014:25189253}"	"family 1, indiviual IV:16"	"M"	""	"Pakistan"	""	"0"	""	""	""	"IV:16"
"00406301"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD1, individual V:6"	"M"	""	"Germany"	""	"0"	""	""	""	"ZD1_V:6"
"00406302"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD111, individual III:1"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD111_III:1"
"00406303"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD131, individual II:2"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD131_II:2"
"00406304"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD131, individual II:4"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD131_II:4"
"00406305"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD131, individual III:1"	"M"	""	"Germany"	""	"0"	""	""	""	"ZD131_III:1"
"00406306"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD73, individual I:2"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD73_I:2"
"00406307"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD73, individual II:2"	"M"	""	"Germany"	""	"0"	""	""	""	"ZD73_II:2"
"00406308"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD73, individual III:2"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD73_III:2"
"00406309"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family RCD62, individual II:1"	"F"	""	"Germany"	""	"0"	""	""	""	"RCD62_II:1"
"00406310"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family RCD62, individual II:2"	"M"	""	"Germany"	""	"0"	""	""	""	"RCD62_II:2"
"00406313"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"M"	""	"United States"	""	"0"	""	""	"Greek"	"1"
"00406314"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"M"	""	"United States"	""	"0"	""	""	"British/Irish/European/French Canadian"	"2"
"00406315"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"M"	""	"United States"	""	"0"	""	""	"British/Irish/German"	"3"
"00406316"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"F"	""	"United States"	""	"0"	""	""	"British/Irish/German"	"4"
"00406317"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"M"	""	"United States"	""	"0"	""	""	"Lebanese"	"5"
"00406318"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"F"	""	"United States"	""	"0"	""	""	"Scandinavian/European"	"6"
"00406319"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"F"	""	"United States"	""	"0"	""	""	"European"	"7"
"00406320"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"F"	""	"United States"	""	"0"	""	""	"Polish/Scandinavian"	"8"
"00406321"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"M"	""	"United States"	""	"0"	""	""	"Scandinavian"	"9"
"00406322"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"F"	""	"United States"	""	"0"	""	""	"German"	"10"
"00406323"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2012:23035049}"	""	"F"	""	"United States"	""	"0"	""	""	"Scandinavian"	"11"
"00406337"	""	""	""	"1"	""	"00000"	"{PMID:Mukherjee 2014:24480840}"	"Family 1, proband\'s daughter"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"IV:1"
"00406338"	""	""	""	"1"	""	"00000"	"{PMID:Mukherjee 2014:24480840}"	"Family 1, proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"III:2"
"00406339"	""	""	""	"1"	""	"00000"	"{PMID:Mukherjee 2014:24480840}"	"Family 1, proband\'s twin monozygotic sister"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"III:3"
"00406340"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2013:23734073}"	"Family 1, proband"	"M"	""	"China"	""	"0"	""	""	""	"III:6"
"00406341"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2013:23734073}"	"Family 1, proband\'s father"	"M"	""	"China"	""	"0"	""	""	""	"II:1"
"00406342"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2013:23734073}"	"Family 1, proband\'s paternal aunt"	"F"	""	"China"	""	"0"	""	""	""	"II:4"
"00406343"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2013:23686677}"	"Family 1, proband"	"F"	""	"China"	""	"0"	""	""	""	"III:1"
"00406344"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2013:23686677}"	"Family 1, proband\'s paternal aunt"	"F"	""	"China"	""	"0"	""	""	""	"II:3"
"00406345"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2013:23686677}"	"Family 1, proband\'s paternal uncle"	"M"	""	"China"	""	"0"	""	""	""	"II:2"
"00406346"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2013:23686677}"	"Family 1, proband\'s father"	"M"	""	"China"	""	"0"	""	""	""	"II:1"
"00406347"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2013:23686677}"	"Family 1, proband\'s paternal grandmother"	"F"	""	"China"	""	"0"	""	""	""	"I:1"
"00406348"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2013:23686677}"	"Family 1, proband cousin (son of II:2)"	"M"	""	"China"	""	"0"	""	""	""	"III:2"
"00406349"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2013:23686677}"	"Family 1, proband\'s cousin (son of II:3)"	"M"	""	"China"	""	"0"	""	""	""	"III:3"
"00406350"	""	""	""	"1"	""	"00000"	"{PMID:Hughes 2012:22695961}"	"mutation confirmed in further four unspecified family members"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"II6"
"00406351"	""	""	""	"1"	""	"00000"	"{PMID:Hughes 2012:22695961}"	"mutation confirmed in further four unspecified family members"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"III3"
"00406364"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406365"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406366"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406367"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406368"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406369"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406370"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406371"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406372"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406373"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406374"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406375"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406377"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"II:1"
"00406378"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"II:3"
"00406379"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"II:4"
"00406380"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"III:2"
"00406381"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"III:5"
"00406382"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"IV:1"
"00406383"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"IV:2"
"00406384"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-039"	"?"	""	"United States"	""	"0"	""	""	""	"Ar-39-04"
"00406385"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-085"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406386"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-695"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406387"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-712"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406388"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-098"	"?"	""	"United States"	""	"0"	""	""	""	"Ar-98-11"
"00406389"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-666"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406390"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-785"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406428"	""	""	""	"1"	""	"00000"	"{PMID:Ugur Iseri 2010:20517349}"	"IV:5"	"F"	""	"Turkey"	""	"0"	""	""	""	"409"
"00406429"	""	""	""	"1"	""	"00000"	"{PMID:Ugur Iseri 2010:20517349}"	"V:2"	"M"	""	"Turkey"	""	"0"	""	""	""	"507"
"00406430"	""	""	""	"1"	""	"00000"	"{PMID:Ugur Iseri 2010:20517349}"	"V:3"	"F"	""	"Turkey"	""	"0"	""	""	""	"508"
"00406431"	""	""	""	"1"	""	"00000"	"{PMID:Ugur Iseri 2010:20517349}"	"V:4"	"M"	""	"Turkey"	""	"0"	""	""	""	"509"
"00406432"	""	""	""	"1"	""	"00000"	"{PMID:Ugur Iseri 2010:20517349}"	"V:6"	"M"	""	"Turkey"	""	"0"	""	""	""	"512"
"00406433"	""	""	""	"1"	""	"00000"	"{PMID:Ugur Iseri 2010:20517349}"	"V:8"	"M"	""	"Turkey"	""	"0"	""	""	""	"514"
"00406437"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2011:21218126}"	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00406439"	""	""	""	"1"	""	"00000"	"{PMID:Peshenko 2010:20050595}"	""	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406440"	""	""	""	"1"	""	"00000"	"{PMID:Peshenko 2010:20050595}"	""	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406441"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"1"
"00406442"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"2"
"00406443"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"3"
"00406462"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD111, individual 7301, index patient"	"F"	""	""	""	"0"	""	""	""	"III:1"
"00406463"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD131, individual 8570, index patient"	"M"	""	""	""	"0"	""	""	""	"III:1"
"00406464"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD138, individual 9058, index patient"	"M"	""	""	""	"0"	""	""	""	"III:1"
"00406465"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD181, individual 5003, index patient"	"M"	""	""	""	"0"	""	""	""	"III:5"
"00406466"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD204, individual 13670, index patient"	"M"	""	""	""	"0"	""	""	""	"III:1"
"00406467"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD249, individual 15965,  relative (index patient unavailable for testing), does not match pedigree - probably numbers switched, should be ZD294"	"M"	""	""	""	"0"	""	""	""	"IV:10"
"00406468"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family RCD260, individual 14324, index patient"	"M"	""	""	""	"0"	""	""	""	"I:1"
"00406469"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family RCD260, individual 14324, relative"	"M"	""	""	""	"0"	""	""	""	"II:1"
"00406470"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family RCD260, individual 14326, relative"	"F"	""	""	""	"0"	""	""	""	"II:2"
"00406471"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD73, individual 2132, index patient"	"F"	""	""	""	"0"	""	""	""	"II:5"
"00406472"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD73, individual 2135, relative"	"F"	""	""	""	"0"	""	""	""	"III:4"
"00406473"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD73, individual 3792, relative"	"M"	""	""	""	"0"	""	""	""	"II:2"
"00406474"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD73, individual 3790, relative"	"F"	""	""	""	"0"	""	""	""	"III:2"
"00406475"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD174, individual 11824, index patient"	"F"	""	""	""	"0"	""	""	""	"I:2"
"00406476"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD197, individual 13045,  index patient"	"F"	""	""	""	"0"	""	""	""	"I:1"
"00406477"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family ZD197, individual 13047, relative"	"F"	""	""	""	"0"	""	""	""	"II:1"
"00406478"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family RCD62, individual 5127,  index patient"	"F"	""	""	""	"0"	""	""	""	"II:2"
"00406479"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family RCD62, individual 5128, relative"	"F"	""	""	""	"0"	""	""	""	"II:1"
"00406480"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2008:18487367}"	"family RCD62, individual 9149, relative"	"F"	""	""	""	"0"	""	""	""	"I:2"
"00406481"	""	""	""	"1"	""	"00000"	"{PMID:Mavrogiannis 2009:19320033}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"?"
"00406495"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 1, individual 1"	"?"	""	""	""	"0"	""	""	""	"1_1"
"00406496"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 1, individual 2"	"?"	""	""	""	"0"	""	""	""	"1_2"
"00406497"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 2, individual 1"	"?"	""	""	""	"0"	""	""	""	"2_1"
"00406498"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 2, individual 2"	"?"	""	""	""	"0"	""	""	""	"2_2"
"00406499"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 3, individual 1"	"?"	""	""	""	"0"	""	""	""	"3_1"
"00406500"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 3, individual 2"	"?"	""	""	""	"0"	""	""	""	"3_2"
"00406501"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 3, individual 3"	"?"	""	""	""	"0"	""	""	""	"3_3"
"00406502"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 3, individual 4"	"?"	""	""	""	"0"	""	""	""	"3_4"
"00406503"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 4, individual 1"	"?"	""	""	""	"0"	""	""	""	"4_1"
"00406504"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 5, individual 1"	"?"	""	""	""	"0"	""	""	""	"5_1"
"00406505"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 6, individual 1"	"?"	""	""	""	"0"	""	""	""	"6_1"
"00406506"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family 7, individual 1"	"?"	""	""	""	"0"	""	""	""	"7_1"
"00406507"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family A, individual 1"	"?"	""	""	""	"0"	""	""	""	"A_1"
"00406508"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family A, individual 2"	"?"	""	""	""	"0"	""	""	""	"A_2"
"00406509"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family A, individual 3"	"?"	""	""	""	"0"	""	""	""	"A_3"
"00406510"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family A, individual 4"	"?"	""	""	""	"0"	""	""	""	"A_4"
"00406511"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family B, individual 1"	"?"	""	""	""	"0"	""	""	""	"B_1"
"00406512"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family B, individual 2"	"?"	""	""	""	"0"	""	""	""	"B_2"
"00406513"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family B, individual 3"	"?"	""	""	""	"0"	""	""	""	"B_3"
"00406514"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family C, individual 1"	"?"	""	""	""	"0"	""	""	""	"C_1"
"00406515"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family C, individual 2"	"?"	""	""	""	"0"	""	""	""	"C_2"
"00406516"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family C, individual 3"	"?"	""	""	""	"0"	""	""	""	"C_3"
"00406517"	""	""	""	"1"	""	"00000"	"{PMID:Hanei 2008:17684531}"	"family D, individual 1"	"?"	""	""	""	"0"	""	""	""	"D_1"
"00406518"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"M"	""	""	""	"0"	""	""	""	"V:12"
"00406519"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"M"	""	""	""	"0"	""	""	""	"VI:1"
"00406520"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"F"	""	""	""	"0"	""	""	""	"VI:3"
"00406521"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"F"	""	""	""	"0"	""	""	""	"VI:7"
"00406522"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"M"	""	""	""	"0"	""	""	""	"VI:10"
"00406523"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"F"	""	""	""	"0"	""	""	""	"VI:11"
"00406524"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"M"	""	""	""	"0"	""	""	""	"VI:12"
"00406525"	""	""	""	"1"	""	"00000"	"{PMID:Rezaie 2007:18161624}"	""	"F"	""	""	""	"0"	""	""	""	"VI:14"
"00406526"	""	""	""	"1"	""	"00000"	"{PMID:Arbustini 2007:17879450}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00406578"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 1584, individual 1"	"?"	""	""	""	"0"	""	""	""	"1584_1"
"00406579"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 1584, individual 2"	"?"	""	""	""	"0"	""	""	""	"1584_2"
"00406580"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 1584, individual 3"	"?"	""	""	""	"0"	""	""	""	"1584_3"
"00406581"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 559, individual 1"	"?"	"yes"	""	""	"0"	""	""	""	"559_1"
"00406582"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 922, individual 1"	"?"	""	""	""	"0"	""	""	""	"922_1"
"00406583"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 1212, individual 1"	"?"	""	""	""	"0"	""	""	""	"1212_1"
"00406584"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 1386, individual 1"	"?"	""	""	""	"0"	""	""	""	"1386_1"
"00406607"	""	""	""	"1"	""	"00000"	"{PMID:Yoshida 2006:17200655}"	"family 1, proband"	""	""	"Japan"	""	"0"	""	""	"Asian"	"III:1"
"00406612"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2004:15643614}"	"family 1, proband\'s father"	"M"	""	"Mali"	""	"0"	""	""	""	"II3"
"00406613"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2004:15643614}"	"family 1, proband\'s mother"	"F"	""	"France"	""	"0"	""	""	"white"	"II4"
"00406614"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2004:15643614}"	"family 1, proband"	"M"	"yes"	"France"	""	"0"	""	""	""	"III1"
"00406615"	""	""	""	"1"	""	"00000"	"{PMID:Yoshida 2006:17200655}"	"family 1, proband\'s father"	""	""	"Japan"	""	"0"	""	""	"Asian"	"II:1"
"00406617"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15175914}"	"family 183, proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"II:3"
"00406618"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15175914}"	"family 183, proband\'s son"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"III:3"
"00406619"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15175914}"	"family 234, proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"III:7"
"00406620"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15175914}"	"family 234, proband\'s son"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"IV:1"
"00406630"	""	""	""	"1"	""	"00000"	"{PMID:Tucker 2004:15123990}"	"cell line research, original patient from biallelic segregating germline"	"?"	""	""	""	"0"	""	""	""	"patient 1"
"00406631"	""	""	""	"1"	""	"00000"	"{PMID:Tucker 2004:15123990}"	"cell line research, original patient from biallelic segregating germline"	"?"	""	""	""	"0"	""	""	""	"patient 2"
"00406632"	""	""	""	"1"	""	"00000"	"{PMID:Tucker 2004:15123990}"	"cell line research, original patient from biallelic segregating germline"	"?"	""	""	""	"0"	""	""	""	"patient 3"
"00406633"	""	""	""	"1"	""	"00000"	"{PMID:Tucker 2004:15123990}"	"cell line research, original patient from monoallelic germline (no second variant found)"	"?"	""	""	""	"0"	""	""	""	"patient 4"
"00406634"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15111605}"	"family 65, proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"IV:7"
"00406635"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15111605}"	"family 65, proband\'s father"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"III-10"
"00406636"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15111605}"	"family 65, proband\'s paternal grandmother"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"II-4"
"00406637"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15111605}"	"family 65, proband\'s paternal grandmother\'s brother\'s granddaughter"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"IV-2"
"00406638"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15111605}"	"family 65, proband\'s paternal grandmother\'s brother\'s son, father of IV-2"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"III-2"
"00406639"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15111605}"	""	"?"	""	"Japan"	""	"0"	""	""	"Asian"	"?"
"00406640"	""	""	""	"1"	""	"00000"	"{PMID:Ito 2004:15111605}"	""	"?"	""	"Japan"	""	"0"	""	""	"Asian"	"?"
"00406656"	""	""	""	"1"	""	"00000"	"{PMID:Milam 2003:12623820}"	"post-mortem eye analysis"	"F"	""	""	"11y6m"	"0"	""	""	""	"II-2"
"00406657"	""	""	""	"1"	""	"00000"	"{PMID:Milam 2003:12623820}"	""	"F"	""	""	""	"0"	""	""	""	"II-3"
"00406658"	""	""	""	"1"	""	"00000"	"{PMID:Hanein 2002:12325031}"	"Family 1, individual III:1 (sister of III:2)"	"F"	""	"Finland"	""	"0"	""	""	""	"1_III:1"
"00406659"	""	""	""	"1"	""	"00000"	"{PMID:Hanein 2002:12325031}"	"Family 1, individual III:2 (sister of III:1)"	"F"	""	"Finland"	""	"0"	""	""	""	"1_III:2"
"00406660"	""	""	""	"1"	""	"00000"	"{PMID:Hanein 2002:12325031}"	"Family 2, individual III:1"	"M"	""	"Finland"	""	"0"	""	""	""	"2_III:1"
"00406661"	""	""	""	"1"	""	"00000"	"{PMID:Hanein 2002:12325031}"	"Family 3, individual II:1"	"M"	""	"Finland"	""	"0"	""	""	""	"3_II:1"
"00406662"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 8, individual II:1"	"M"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406663"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 8, individual II:2"	"M"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406664"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 8, individual II:3"	"M"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406665"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 8, individual II:5"	"F"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406666"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 11, individual II:1"	"F"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406667"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 11, individual II:2"	"M"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406668"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 11, individual II:3"	"M"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406669"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 11, individual II:4"	"F"	"yes"	"Algeria"	""	"0"	""	""	"Arab"	"?"
"00406670"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 3, individual II:1"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Sefardi Jewish"	"?"
"00406671"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 3, individual II:2"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Sefardi Jewish"	"?"
"00406672"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 12, individual II:1"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Arab"	"?"
"00406673"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1996:8944027}"	"Family 12, individual II:2"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Arab"	"?"
"00406674"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1998:9683616}"	""	"M"	"yes"	""	""	"0"	""	""	""	"I-1"
"00406675"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1998:9683616}"	""	"F"	"yes"	""	""	"0"	""	""	""	"II-2"
"00406676"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1998:9683616}"	""	"M"	"yes"	""	""	"0"	""	""	""	"II-4"
"00406677"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1998:9683616}"	""	"M"	"yes"	""	""	"0"	""	""	""	"II-8"
"00406678"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1998:9683616}"	""	"F"	"yes"	""	""	"0"	""	""	""	"III-2"
"00406679"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 1998:9683616}"	""	"F"	"yes"	""	""	"0"	""	""	""	"III-3"
"00406681"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Tunisia"	""	"0"	""	""	""	"85"
"00406682"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	""	""	"0"	""	""	""	"110"
"00406683"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Morocco"	""	"0"	""	""	""	"3"
"00406684"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Tunisia"	""	"0"	""	""	""	"90"
"00406685"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Tunisia"	""	"0"	""	""	""	"91"
"00406686"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Israel"	""	"0"	""	""	""	"118"
"00406687"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Tunisia"	""	"0"	""	""	""	"23"
"00406688"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Tunisia"	""	"0"	""	""	""	"34"
"00406689"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Morocco"	""	"0"	""	""	""	"70"
"00406690"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Mali"	""	"0"	""	""	""	"20"
"00406691"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Algeria"	""	"0"	""	""	""	"33"
"00406692"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Benin"	""	"0"	""	""	""	"11"
"00406693"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Algeria"	""	"0"	""	""	""	"7"
"00406694"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Algeria"	""	"0"	""	""	""	"17"
"00406695"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Algeria"	""	"0"	""	""	""	"36"
"00406696"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Turkey"	""	"0"	""	""	""	"31"
"00406697"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Pakistan"	""	"0"	""	""	""	"56"
"00406698"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"France"	""	"0"	""	""	""	"51"
"00406699"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Italy"	""	"0"	""	""	""	"82"
"00406700"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Italy"	""	"0"	""	""	""	"52"
"00406701"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Belgium"	""	"0"	""	""	"Algerian"	"88"
"00406702"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Tunisia"	""	"0"	""	""	""	"89"
"00406703"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"Netherlands"	""	"0"	""	""	""	"117"
"00406704"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2000:10951519}"	"mutation refering to the whole family, segregation not specified"	"?"	""	"France"	""	"0"	""	""	""	"72"
"00406705"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_II:7"
"00406706"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_II:11"
"00406707"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_II:16"
"00406708"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_II:22"
"00406709"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_II:31"
"00406710"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_III:3"
"00406711"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_III:8"
"00406712"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_III:13"
"00406713"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_III:20"
"00406714"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_III:24"
"00406715"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_IV:2"
"00406716"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_IV:6"
"00406717"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 1"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1_IV:9"
"00406718"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 2"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"2_II:4"
"00406719"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 2"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"2_II:7"
"00406720"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 2"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"2_III:1"
"00406721"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 2"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"2_III:5"
"00406722"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 3"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"3_II:1"
"00406723"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 3"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"3_II:3"
"00406724"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 3"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"3_III:2"
"00406725"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 3"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"3_III:5"
"00406726"	""	""	""	"1"	""	"00000"	"{PMID:Kelsell 1998:9618177}, {PMID:Payne 2001:11565546}"	"Family 4"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"4_III:5"
"00406727"	""	""	""	"1"	""	"00000"	"{PMID:Payne 2001:11565546}"	"Proband 5"	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"5"
"00406728"	""	""	""	"1"	""	"00000"	"{PMID:Payne 2001:11565546}"	"Proband 6"	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"6"
"00406729"	""	""	""	"1"	""	"00000"	"{PMID:Payne 2001:11565546}"	"Proband 8"	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"8"
"00406741"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175, proband"	"F"	""	"United States"	""	"0"	""	""	""	"1"
"00406742"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"103"
"00406743"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"104"
"00406744"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"105"
"00406745"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"111"
"00406746"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"108"
"00406747"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"114"
"00406748"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"115"
"00406749"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"116"
"00406750"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"125"
"00406751"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"124"
"00406752"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"132"
"00406753"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"123"
"00406754"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"126"
"00406755"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1000"
"00406756"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1004"
"00406757"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1006"
"00406758"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1007"
"00406759"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"1010"
"00406760"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"1058"
"00406761"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1016"
"00406762"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1015"
"00406763"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"1013"
"00406764"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"1037"
"00406765"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"1029"
"00406766"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1033"
"00406767"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1032"
"00406768"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1031"
"00406769"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1048"
"00406770"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"1044"
"00406771"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1041"
"00406772"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"1042"
"00406773"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"2000"
"00406774"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"2004"
"00406775"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"2006"
"00406776"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"2003"
"00406777"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"2024"
"00406778"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"2023"
"00406779"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"2015"
"00406780"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"F"	""	"United States"	""	"0"	""	""	""	"2017"
"00406781"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"117"
"00406782"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1175"	"M"	""	"United States"	""	"0"	""	""	""	"1047"
"00406783"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1177"	"M"	""	"United States"	""	"0"	""	""	""	"102"
"00406784"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1177"	"F"	""	"United States"	""	"0"	""	""	""	"104"
"00406785"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1177"	"F"	""	"United States"	""	"0"	""	""	""	"100"
"00406786"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1177"	"M"	""	"United States"	""	"0"	""	""	""	"9000"
"00406787"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1177"	"F"	""	"United States"	""	"0"	""	""	""	"9002"
"00406788"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1177"	"F"	""	"United States"	""	"0"	""	""	""	"9004"
"00406789"	""	""	""	"1"	""	"00000"	"{PMID:Udar 2003:12552567}"	"Family 1177"	"M"	""	"United States"	""	"0"	""	""	""	"8000"
"00406790"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"M"	"yes"	""	""	"0"	""	""	""	"III:1"
"00406791"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"M"	"yes"	""	""	"0"	""	""	""	"III:3"
"00406792"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"M"	"yes"	""	""	"0"	""	""	""	"III:5"
"00406793"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"M"	"yes"	""	""	"0"	""	""	""	"IV:1"
"00406794"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"F"	"yes"	""	""	"0"	""	""	""	"IV:12"
"00406795"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"F"	"yes"	""	""	"0"	""	""	""	"IV:14"
"00406796"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"M"	"yes"	""	""	"0"	""	""	""	"IV:17"
"00406797"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"F"	"yes"	""	""	"0"	""	""	""	"IV:4"
"00406798"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"M"	"yes"	""	""	"0"	""	""	""	"IV:7"
"00406799"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"F"	"yes"	""	""	"0"	""	""	""	"V:4"
"00406800"	""	""	""	"1"	""	"00000"	"{PMID:Van Ghelue 2000:11135490}"	""	"M"	"yes"	""	""	"0"	""	""	""	"V:7"
"00406823"	""	""	""	"1"	""	"00000"	"{PMID:Dharmaraj 2000:11035546}"	""	"?"	"yes"	"Canada"	""	"0"	""	""	"Afghan"	"1"
"00406824"	""	""	""	"1"	""	"00000"	"{PMID:Dharmaraj 2000:11035546}"	""	"?"	"no"	"Canada"	""	"0"	""	""	"Egyptian"	"2"
"00406825"	""	""	""	"1"	""	"00000"	"{PMID:Dharmaraj 2000:11035546}"	""	"?"	"no"	"Canada"	""	"0"	""	""	"Egyptian"	"3"
"00406826"	""	""	""	"1"	""	"00000"	"{PMID:Dharmaraj 2000:11035546}"	""	"?"	"no"	"Canada"	""	"0"	""	""	"Greek"	"4"
"00406827"	""	""	""	"1"	""	"00000"	"{PMID:Dharmaraj 2000:11035546}"	""	"?"	"no"	"Canada"	""	"0"	""	""	"American"	"5"
"00406828"	""	""	""	"1"	""	"00000"	"{PMID:Dharmaraj 2000:11035546}"	""	"?"	"yes"	"Canada"	""	"0"	""	""	"Egyptian"	"6"
"00408405"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	"Family 1, invidivual a"	"?"	""	"Finland"	""	"0"	""	""	""	"1a"
"00408406"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	"Family 1, invidivual b"	"?"	""	"Finland"	""	"0"	""	""	""	"1b"
"00408407"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	""	"?"	""	"Finland"	""	"0"	""	""	""	"2"
"00408408"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	"Family 3, invidivual a"	"?"	""	"Finland"	""	"0"	""	""	""	"3a"
"00408409"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	"Family 3, invidivual b"	"?"	""	"Finland"	""	"0"	""	""	""	"3b"
"00408410"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	""	"?"	""	"Finland"	""	"0"	""	""	""	"4"
"00408411"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	""	"?"	""	"Finland"	""	"0"	""	""	""	"5"
"00414477"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP144"
"00418596"	""	""	""	"1"	""	"00006"	"{PMID:Bertoli-Avella 2022:34952832}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Bahrain"	""	"0"	""	""	"Syria"	"Fam2PatIII1"
"00419565"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"F"	""	"Greece"	""	"0"	""	""	""	"8139"
"00420508"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F195"
"00420551"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F255"
"00420577"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F290"
"00429695"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429818"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429863"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429872"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429957"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430090"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00444290"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat49"
"00447055"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"CD-619"
"00447067"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"CHM-111"
"00447086"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"CRD-772"
"00447088"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"CRD-776"
"00447261"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1067"
"00447320"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1264"
"00447342"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"STGD-324"
"00447385"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"STGD-441"
"00447393"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"STGD-457"
"00447472"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"XRP-241"
"00447518"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-35"
"00447554"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"LCA-155"
"00447577"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"OAK-717"
"00447679"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"MDS-436"
"00448007"	""	""	""	"2"	""	"00006"	"{PMID:Zeitz 2024:38293907}"	"2-generation family, 2 affected sisters, unaffected parents"	"F"	"yes"	"France"	""	"0"	""	""	"Tunisia"	"F5326PatCIC09282"
"00450851"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"066750"
"00450852"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"066776"
"00450853"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"067213"
"00450854"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"071847"
"00450855"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"072092"
"00450856"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"072199"
"00450857"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"072849"
"00450858"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"072967"
"00450859"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"073192"
"00450860"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"073556"
"00450861"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"073559"
"00450862"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"073791"
"00450931"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"079868"
"00461067"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"M"	""	"South Africa"	""	"0"	""	""	"mixed"	"Pat2"
"00461086"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"F"	""	"South Africa"	""	"0"	""	""	"mixed"	"Pat21"
"00469988"	""	""	""	"9"	""	"00006"	"{PMID:Rashid 2020:32976546}"	"6-generation family, 9 affected (6F, 3M)"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"GCUF4"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 823
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00033098"	"04214"
"00033104"	"04214"
"00033123"	"04214"
"00033130"	"04214"
"00033132"	"04214"
"00033138"	"04214"
"00033139"	"04214"
"00033141"	"04214"
"00033150"	"04214"
"00033151"	"04214"
"00033152"	"04214"
"00033154"	"04214"
"00033160"	"04214"
"00033163"	"04214"
"00033167"	"04214"
"00033169"	"04214"
"00033616"	"04210"
"00033637"	"04213"
"00033694"	"04210"
"00033695"	"04210"
"00033696"	"04210"
"00033697"	"04210"
"00033698"	"04210"
"00033699"	"04210"
"00033700"	"04210"
"00033701"	"04210"
"00033702"	"04210"
"00038052"	"04210"
"00038053"	"04210"
"00038054"	"04210"
"00038069"	"04214"
"00038305"	"04214"
"00052513"	"04210"
"00052946"	"04214"
"00078524"	"04210"
"00100069"	"00381"
"00100073"	"00381"
"00104989"	"04210"
"00155475"	"04210"
"00155476"	"04210"
"00155477"	"04210"
"00155478"	"04214"
"00155479"	"04214"
"00207590"	"04210"
"00207662"	"00058"
"00207680"	"04210"
"00207685"	"04210"
"00240438"	"00381"
"00240439"	"00381"
"00240440"	"00381"
"00240441"	"00381"
"00269474"	"04210"
"00269541"	"04210"
"00269542"	"04210"
"00269543"	"04210"
"00269567"	"04210"
"00269568"	"04210"
"00269569"	"04210"
"00269570"	"04210"
"00269571"	"04210"
"00269591"	"04210"
"00275683"	"04215"
"00291891"	"00198"
"00291892"	"00198"
"00303622"	"00198"
"00304612"	"00198"
"00308381"	"04214"
"00308382"	"04214"
"00308383"	"04214"
"00308384"	"04214"
"00308385"	"04214"
"00308512"	"04214"
"00308634"	"04214"
"00308658"	"04214"
"00308659"	"04214"
"00308752"	"00000"
"00309175"	"04214"
"00309176"	"04214"
"00309177"	"04214"
"00309178"	"04214"
"00309179"	"04214"
"00309180"	"04214"
"00309181"	"04214"
"00309182"	"04214"
"00309183"	"04214"
"00309184"	"04214"
"00309185"	"04214"
"00309186"	"04214"
"00309187"	"04214"
"00309188"	"04214"
"00309673"	"04214"
"00309674"	"04214"
"00309675"	"04214"
"00309676"	"04214"
"00309677"	"04214"
"00309678"	"04214"
"00309679"	"04214"
"00325431"	"04214"
"00325433"	"04214"
"00325435"	"04214"
"00325477"	"04214"
"00325512"	"04214"
"00327937"	"04214"
"00328005"	"04214"
"00328043"	"04214"
"00328075"	"04214"
"00328461"	"04214"
"00328490"	"04214"
"00331279"	"04214"
"00331933"	"04214"
"00332028"	"04214"
"00332029"	"04214"
"00332030"	"04214"
"00332031"	"04214"
"00332032"	"04214"
"00332033"	"04214"
"00332199"	"04214"
"00332225"	"04214"
"00332263"	"04214"
"00332361"	"04214"
"00332362"	"04214"
"00332363"	"04214"
"00332364"	"04214"
"00332365"	"04214"
"00332380"	"04214"
"00332381"	"04214"
"00332382"	"04214"
"00332383"	"04214"
"00332384"	"04214"
"00332462"	"04214"
"00332472"	"04214"
"00332496"	"04214"
"00332497"	"04214"
"00333359"	"04214"
"00333365"	"04214"
"00333390"	"04214"
"00333403"	"04214"
"00333422"	"04214"
"00333585"	"04214"
"00333631"	"04214"
"00333632"	"04214"
"00333925"	"04214"
"00334561"	"04214"
"00335117"	"00198"
"00335118"	"00198"
"00335119"	"00198"
"00335120"	"00198"
"00335121"	"00198"
"00335122"	"00198"
"00335214"	"04214"
"00335215"	"04214"
"00335276"	"04214"
"00335304"	"04214"
"00335305"	"04214"
"00335592"	"04214"
"00335595"	"04214"
"00335596"	"04214"
"00335597"	"04214"
"00335598"	"04214"
"00335599"	"04214"
"00335600"	"04214"
"00335601"	"04214"
"00335602"	"04214"
"00335611"	"04214"
"00335612"	"04214"
"00335613"	"04214"
"00335623"	"04214"
"00335624"	"04214"
"00335625"	"04214"
"00335626"	"04214"
"00335627"	"04214"
"00335628"	"04214"
"00335976"	"04214"
"00358898"	"04214"
"00358899"	"04214"
"00358900"	"04214"
"00358901"	"04214"
"00358902"	"04214"
"00358903"	"04214"
"00359001"	"04214"
"00359008"	"04214"
"00359009"	"04214"
"00359015"	"04214"
"00359054"	"04214"
"00359057"	"04214"
"00359062"	"04214"
"00359072"	"04214"
"00359088"	"04214"
"00359100"	"04214"
"00359101"	"04214"
"00359184"	"04214"
"00362068"	"04214"
"00362069"	"04214"
"00362070"	"04214"
"00362071"	"04214"
"00362072"	"04214"
"00362160"	"04214"
"00362187"	"04214"
"00362904"	"04214"
"00363347"	"04214"
"00363574"	"04214"
"00363644"	"04214"
"00363719"	"04214"
"00363733"	"04214"
"00372069"	"04214"
"00372412"	"04214"
"00372413"	"04214"
"00372434"	"04214"
"00372435"	"04214"
"00372436"	"04214"
"00372437"	"04214"
"00372471"	"04214"
"00372472"	"04214"
"00372473"	"04214"
"00372474"	"04214"
"00372475"	"04214"
"00372476"	"04214"
"00372477"	"04214"
"00372489"	"04214"
"00373362"	"04214"
"00373407"	"04214"
"00374987"	"04214"
"00375440"	"04214"
"00375460"	"04214"
"00375462"	"04214"
"00375463"	"04214"
"00375466"	"04214"
"00375471"	"04214"
"00375506"	"04214"
"00375507"	"04214"
"00375508"	"04214"
"00375509"	"04214"
"00375510"	"04214"
"00375511"	"04214"
"00376278"	"04214"
"00376279"	"04214"
"00376280"	"04214"
"00376281"	"04214"
"00376282"	"04214"
"00376283"	"04214"
"00376284"	"04214"
"00376465"	"04214"
"00376466"	"04214"
"00376467"	"04214"
"00376470"	"04214"
"00376474"	"04214"
"00376717"	"04214"
"00376718"	"04214"
"00376719"	"04214"
"00376723"	"04214"
"00376724"	"04214"
"00376725"	"04214"
"00376726"	"04214"
"00376727"	"04214"
"00376763"	"04214"
"00376811"	"04214"
"00376818"	"04214"
"00377178"	"04214"
"00377182"	"04214"
"00377183"	"04214"
"00377184"	"04214"
"00377185"	"04214"
"00377186"	"04214"
"00377239"	"04214"
"00377240"	"04214"
"00377522"	"04214"
"00377531"	"04214"
"00377542"	"04214"
"00377543"	"04214"
"00377721"	"04214"
"00377874"	"04214"
"00377875"	"04214"
"00377876"	"04214"
"00377877"	"04214"
"00377878"	"04214"
"00377879"	"04214"
"00377880"	"04214"
"00377888"	"04214"
"00377889"	"04214"
"00377904"	"04214"
"00377905"	"04214"
"00377906"	"04214"
"00377909"	"04214"
"00377910"	"04214"
"00377955"	"04214"
"00377956"	"04214"
"00379680"	"04210"
"00379841"	"04214"
"00381006"	"04214"
"00381026"	"04214"
"00381028"	"04214"
"00381029"	"04214"
"00381040"	"04214"
"00381041"	"04214"
"00381044"	"04214"
"00381050"	"04214"
"00381084"	"04214"
"00381146"	"04214"
"00381152"	"04214"
"00381153"	"04214"
"00381187"	"04214"
"00381188"	"04214"
"00381189"	"04214"
"00381208"	"04214"
"00381221"	"04214"
"00381222"	"04214"
"00381223"	"04214"
"00381224"	"04214"
"00381625"	"04214"
"00381628"	"04214"
"00381633"	"04214"
"00381634"	"04214"
"00381665"	"04214"
"00381670"	"04214"
"00381672"	"04214"
"00382135"	"01647"
"00382313"	"04214"
"00382314"	"04214"
"00382315"	"04214"
"00382551"	"04214"
"00382799"	"04214"
"00383504"	"04214"
"00383505"	"04214"
"00383853"	"04214"
"00383854"	"04214"
"00384191"	"04214"
"00384196"	"04214"
"00384237"	"04214"
"00384402"	"04214"
"00384564"	"04214"
"00384565"	"04214"
"00384566"	"04214"
"00384567"	"04214"
"00384568"	"04214"
"00384569"	"04214"
"00384570"	"04214"
"00384571"	"04214"
"00384633"	"00198"
"00384994"	"04214"
"00385042"	"04214"
"00385059"	"04214"
"00385064"	"04214"
"00385071"	"04214"
"00385072"	"04214"
"00385077"	"04214"
"00385079"	"04214"
"00385627"	"04214"
"00385848"	"04214"
"00385962"	"04214"
"00386170"	"04214"
"00386298"	"04214"
"00387657"	"04214"
"00388156"	"04214"
"00388157"	"04214"
"00388158"	"04214"
"00388159"	"04214"
"00388160"	"04214"
"00388161"	"04214"
"00388162"	"04214"
"00388163"	"04214"
"00388164"	"04214"
"00388183"	"04214"
"00388912"	"04214"
"00388913"	"04214"
"00388914"	"04214"
"00388915"	"04214"
"00388916"	"04214"
"00389070"	"04214"
"00389071"	"04214"
"00389072"	"04214"
"00389236"	"04214"
"00389615"	"04214"
"00389616"	"04214"
"00389698"	"04214"
"00390278"	"04214"
"00390279"	"04214"
"00390737"	"04214"
"00390764"	"04214"
"00390807"	"04214"
"00390839"	"04214"
"00390971"	"04214"
"00391165"	"04214"
"00391166"	"04214"
"00391167"	"04214"
"00391168"	"04214"
"00391169"	"04214"
"00391170"	"04214"
"00391345"	"04214"
"00391576"	"04214"
"00391641"	"04214"
"00391642"	"04214"
"00391643"	"04214"
"00391644"	"04214"
"00391645"	"04214"
"00391646"	"04214"
"00391647"	"04214"
"00391648"	"04214"
"00391649"	"04214"
"00391650"	"04214"
"00391651"	"04214"
"00391728"	"04214"
"00392561"	"04214"
"00392566"	"04214"
"00393481"	"04214"
"00393630"	"04214"
"00395886"	"04214"
"00395914"	"04214"
"00395938"	"04214"
"00396215"	"04214"
"00396219"	"04214"
"00396222"	"04214"
"00396225"	"04214"
"00396554"	"04214"
"00405994"	"04214"
"00405995"	"04214"
"00405996"	"04214"
"00405997"	"04214"
"00405998"	"04214"
"00405999"	"04214"
"00406237"	"04214"
"00406238"	"04214"
"00406239"	"04214"
"00406240"	"04214"
"00406241"	"04214"
"00406242"	"04214"
"00406243"	"04214"
"00406244"	"04214"
"00406245"	"04214"
"00406246"	"04214"
"00406247"	"04214"
"00406248"	"04214"
"00406249"	"04214"
"00406250"	"04214"
"00406251"	"04214"
"00406252"	"04214"
"00406253"	"04214"
"00406254"	"04214"
"00406255"	"04214"
"00406256"	"04214"
"00406257"	"04214"
"00406258"	"04214"
"00406259"	"04214"
"00406260"	"04214"
"00406261"	"04214"
"00406262"	"04214"
"00406263"	"04214"
"00406264"	"04214"
"00406265"	"04214"
"00406266"	"04214"
"00406267"	"04214"
"00406268"	"04214"
"00406269"	"04214"
"00406270"	"04214"
"00406271"	"04214"
"00406272"	"04214"
"00406273"	"04214"
"00406274"	"04214"
"00406275"	"04214"
"00406276"	"04214"
"00406277"	"04214"
"00406278"	"04214"
"00406279"	"04214"
"00406280"	"04214"
"00406281"	"04214"
"00406282"	"04214"
"00406283"	"04214"
"00406284"	"04214"
"00406285"	"04214"
"00406286"	"04214"
"00406287"	"04214"
"00406288"	"04214"
"00406289"	"04214"
"00406290"	"04214"
"00406291"	"04214"
"00406292"	"04214"
"00406293"	"04214"
"00406294"	"04214"
"00406295"	"04214"
"00406296"	"04214"
"00406301"	"04214"
"00406302"	"04214"
"00406303"	"04214"
"00406304"	"04214"
"00406305"	"04214"
"00406306"	"04214"
"00406307"	"04214"
"00406308"	"04214"
"00406309"	"04214"
"00406310"	"04214"
"00406313"	"04214"
"00406314"	"04214"
"00406315"	"04214"
"00406316"	"04214"
"00406317"	"04214"
"00406318"	"04214"
"00406319"	"04214"
"00406320"	"04214"
"00406321"	"04214"
"00406322"	"04214"
"00406323"	"04214"
"00406337"	"04214"
"00406338"	"04214"
"00406339"	"04214"
"00406340"	"04214"
"00406341"	"04214"
"00406342"	"04214"
"00406343"	"04214"
"00406344"	"04214"
"00406345"	"04214"
"00406346"	"04214"
"00406347"	"04214"
"00406348"	"04214"
"00406349"	"04214"
"00406350"	"04214"
"00406351"	"04214"
"00406364"	"04214"
"00406365"	"04214"
"00406366"	"04214"
"00406367"	"04214"
"00406368"	"04214"
"00406369"	"04214"
"00406370"	"04214"
"00406371"	"04214"
"00406372"	"04214"
"00406373"	"04214"
"00406374"	"04214"
"00406375"	"04214"
"00406377"	"04214"
"00406378"	"04214"
"00406379"	"04214"
"00406380"	"04214"
"00406381"	"04214"
"00406382"	"04214"
"00406383"	"04214"
"00406384"	"04214"
"00406385"	"04214"
"00406386"	"04214"
"00406387"	"04214"
"00406388"	"04214"
"00406389"	"04214"
"00406390"	"04214"
"00406428"	"04214"
"00406429"	"04214"
"00406430"	"04214"
"00406431"	"04214"
"00406432"	"04214"
"00406433"	"04214"
"00406437"	"04214"
"00406439"	"04214"
"00406440"	"04214"
"00406441"	"04214"
"00406442"	"04214"
"00406443"	"04214"
"00406462"	"04214"
"00406463"	"04214"
"00406464"	"04214"
"00406465"	"04214"
"00406466"	"04214"
"00406467"	"04214"
"00406468"	"04214"
"00406469"	"04214"
"00406470"	"04214"
"00406471"	"04214"
"00406472"	"04214"
"00406473"	"04214"
"00406474"	"04214"
"00406475"	"04214"
"00406476"	"04214"
"00406477"	"04214"
"00406478"	"04214"
"00406479"	"04214"
"00406480"	"04214"
"00406481"	"04214"
"00406495"	"04214"
"00406496"	"04214"
"00406497"	"04214"
"00406498"	"04214"
"00406499"	"04214"
"00406500"	"04214"
"00406501"	"04214"
"00406502"	"04214"
"00406503"	"04214"
"00406504"	"04214"
"00406505"	"04214"
"00406506"	"04214"
"00406507"	"04214"
"00406508"	"04214"
"00406509"	"04214"
"00406510"	"04214"
"00406511"	"04214"
"00406512"	"04214"
"00406513"	"04214"
"00406514"	"04214"
"00406515"	"04214"
"00406516"	"04214"
"00406517"	"04214"
"00406518"	"04214"
"00406519"	"04214"
"00406520"	"04214"
"00406521"	"04214"
"00406522"	"04214"
"00406523"	"04214"
"00406524"	"04214"
"00406525"	"04214"
"00406526"	"04214"
"00406578"	"04214"
"00406579"	"04214"
"00406580"	"04214"
"00406581"	"04214"
"00406582"	"04214"
"00406583"	"04214"
"00406584"	"04214"
"00406607"	"04214"
"00406612"	"04214"
"00406613"	"04214"
"00406614"	"04214"
"00406615"	"04214"
"00406617"	"04214"
"00406618"	"04214"
"00406619"	"04214"
"00406620"	"04214"
"00406630"	"04214"
"00406631"	"04214"
"00406632"	"04214"
"00406633"	"04214"
"00406634"	"04214"
"00406635"	"04214"
"00406636"	"04214"
"00406637"	"04214"
"00406638"	"04214"
"00406639"	"04214"
"00406640"	"04215"
"00406656"	"04214"
"00406657"	"04214"
"00406658"	"04214"
"00406659"	"04214"
"00406660"	"04214"
"00406661"	"04214"
"00406662"	"04214"
"00406663"	"04214"
"00406664"	"04214"
"00406665"	"04214"
"00406666"	"04214"
"00406667"	"04214"
"00406668"	"04214"
"00406669"	"04214"
"00406670"	"04214"
"00406671"	"04214"
"00406672"	"04214"
"00406673"	"04214"
"00406674"	"04214"
"00406675"	"04214"
"00406676"	"04214"
"00406677"	"04214"
"00406678"	"04214"
"00406679"	"04214"
"00406681"	"04214"
"00406682"	"04214"
"00406683"	"04214"
"00406684"	"04214"
"00406685"	"04214"
"00406686"	"04214"
"00406687"	"04214"
"00406688"	"04214"
"00406689"	"04214"
"00406690"	"04214"
"00406691"	"04214"
"00406692"	"04214"
"00406693"	"04214"
"00406694"	"04214"
"00406695"	"04214"
"00406696"	"04214"
"00406697"	"04214"
"00406698"	"04214"
"00406699"	"04214"
"00406700"	"04214"
"00406701"	"04214"
"00406702"	"04214"
"00406703"	"04214"
"00406704"	"04214"
"00406705"	"04214"
"00406706"	"04214"
"00406707"	"04214"
"00406708"	"04214"
"00406709"	"04214"
"00406710"	"04214"
"00406711"	"04214"
"00406712"	"04214"
"00406713"	"04214"
"00406714"	"04214"
"00406715"	"04214"
"00406716"	"04214"
"00406717"	"04214"
"00406718"	"04214"
"00406719"	"04214"
"00406720"	"04214"
"00406721"	"04214"
"00406722"	"04214"
"00406723"	"04214"
"00406724"	"04214"
"00406725"	"04214"
"00406726"	"04214"
"00406727"	"04214"
"00406728"	"04214"
"00406729"	"04214"
"00406741"	"04214"
"00406742"	"04214"
"00406743"	"04214"
"00406744"	"04214"
"00406745"	"04214"
"00406746"	"04214"
"00406747"	"04214"
"00406748"	"04214"
"00406749"	"04214"
"00406750"	"04214"
"00406751"	"04214"
"00406752"	"04214"
"00406753"	"04214"
"00406754"	"04214"
"00406755"	"04214"
"00406756"	"04214"
"00406757"	"04214"
"00406758"	"04214"
"00406759"	"04214"
"00406760"	"04214"
"00406761"	"04214"
"00406762"	"04214"
"00406763"	"04214"
"00406764"	"04214"
"00406765"	"04214"
"00406766"	"04214"
"00406767"	"04214"
"00406768"	"04214"
"00406769"	"04214"
"00406770"	"04214"
"00406771"	"04214"
"00406772"	"04214"
"00406773"	"04214"
"00406774"	"04214"
"00406775"	"04214"
"00406776"	"04214"
"00406777"	"04214"
"00406778"	"04214"
"00406779"	"04214"
"00406780"	"04214"
"00406781"	"04214"
"00406782"	"04214"
"00406783"	"04214"
"00406784"	"04214"
"00406785"	"04214"
"00406786"	"04214"
"00406787"	"04214"
"00406788"	"04214"
"00406789"	"04214"
"00406790"	"04214"
"00406791"	"04214"
"00406792"	"04214"
"00406793"	"04214"
"00406794"	"04214"
"00406795"	"04214"
"00406796"	"04214"
"00406797"	"04214"
"00406798"	"04214"
"00406799"	"04214"
"00406800"	"04214"
"00406823"	"04214"
"00406824"	"04214"
"00406825"	"04214"
"00406826"	"04214"
"00406827"	"04214"
"00406828"	"04214"
"00408405"	"04214"
"00408406"	"04214"
"00408407"	"04214"
"00408408"	"04214"
"00408409"	"04214"
"00408410"	"04214"
"00408411"	"04214"
"00414477"	"00198"
"00418596"	"00128"
"00419565"	"00198"
"00420508"	"04214"
"00420551"	"04214"
"00420577"	"04214"
"00429695"	"04210"
"00429818"	"04214"
"00429863"	"04210"
"00429872"	"04214"
"00429957"	"00112"
"00430090"	"04210"
"00444290"	"04214"
"00447055"	"00198"
"00447067"	"00198"
"00447086"	"00198"
"00447088"	"00198"
"00447261"	"00198"
"00447320"	"00198"
"00447342"	"00198"
"00447385"	"00198"
"00447393"	"00198"
"00447472"	"00198"
"00447518"	"00198"
"00447554"	"00198"
"00447577"	"00198"
"00447679"	"00198"
"00448007"	"04214"
"00450851"	"04249"
"00450852"	"04249"
"00450853"	"04249"
"00450854"	"04249"
"00450855"	"04249"
"00450856"	"04249"
"00450857"	"04249"
"00450858"	"04249"
"00450859"	"04249"
"00450860"	"04249"
"00450861"	"04249"
"00450862"	"04249"
"00450931"	"04249"
"00461067"	"04214"
"00461086"	"04214"
"00469988"	"04210"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00128, 00198, 00381, 01157, 01646, 01647, 02389, 04210, 04213, 04214, 04215, 04249, 06327, 06381
## Count = 798
"{{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}}"
"0000026527"	"04214"	"00033098"	"00229"	"Unknown"	"35y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026533"	"04214"	"00033104"	"00229"	"Unknown"	"37y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026552"	"04214"	"00033123"	"00229"	"Unknown"	"16y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026559"	"04214"	"00033130"	"00229"	"Unknown"	"4y"	"Wilm\'s tumor"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026561"	"04214"	"00033132"	"00229"	"Unknown"	"06y"	"retinal degeneration, severe, early onset (EOSRD)"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026567"	"04214"	"00033138"	"00229"	"Unknown"	""	"hypertension"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026568"	"04214"	"00033139"	"00229"	"Unknown"	"15y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026570"	"04214"	"00033141"	"00229"	"Unknown"	"16y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026579"	"04214"	"00033150"	"00229"	"Unknown"	"58y"	"malignant hypertension with renal failure, followed by transplant"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026580"	"04214"	"00033151"	"00229"	"Unknown"	"18y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026581"	"04214"	"00033152"	"00229"	"Unknown"	"45y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026583"	"04214"	"00033154"	"00229"	"Unknown"	"34y"	"epilepsy"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026589"	"04214"	"00033160"	"00229"	"Unknown"	"58y"	"diabetes mellitus type 1"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026592"	"04214"	"00033163"	"00229"	"Unknown"	"28y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026596"	"04214"	"00033167"	"00229"	"Unknown"	""	"hyperornithemia"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026598"	"04214"	"00033169"	"00229"	"Unknown"	"18y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000027045"	"04210"	"00033616"	"00243"	"Familial, autosomal recessive"	"0d"	""	""	""	""	""	""	""	""	""	""	""	""
"0000027066"	"04213"	"00033637"	"01244"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027123"	"04210"	"00033694"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027124"	"04210"	"00033695"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027125"	"04210"	"00033696"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027126"	"04210"	"00033697"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027127"	"04210"	"00033698"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027128"	"04210"	"00033699"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027129"	"04210"	"00033700"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027130"	"04210"	"00033701"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000027131"	"04210"	"00033702"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000028595"	"04210"	"00038052"	"01251"	"Familial, autosomal recessive"	""	"?"	""	""	"?"	""	""	""	""	""	""	""	""
"0000028596"	"04210"	"00038053"	"01251"	"Familial, autosomal recessive"	""	"?"	""	""	"?"	""	""	""	""	""	""	""	""
"0000028597"	"04210"	"00038054"	"01251"	"Familial, autosomal recessive"	""	"?"	""	""	"?"	""	""	""	""	""	""	""	""
"0000028612"	"04214"	"00038069"	"01251"	"Familial, autosomal recessive"	""	"?"	""	""	"?"	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000028848"	"04214"	"00038305"	"01251"	"Familial, autosomal recessive"	""	"Blurred vision since birth, photophobia, poor night vision, pale optic disc, heavy bone spicules 360 degree, macular RPE changes, non-recordable ERG"	"11y"	""	"?"	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	"3w"	""	""	""	""	""	""	""	""	""
"0000039090"	"04210"	"00052513"	"01424"	"Familial, autosomal recessive"	""	"Leber congenital amaurosis; congenital blindness, nystagmus, nonrecordable ERG"	"0d"	""	""	""	""	""	""	""	""	""	""
"0000039523"	"04214"	"00052946"	"01424"	"Unknown"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058299"	"04210"	"00078524"	"00105"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000078310"	"00381"	"00100069"	"01769"	"Familial, autosomal recessive"	""	"early onset RD"	""	""	""	""	""	""	""	""	""	""	""
"0000078314"	"00381"	"00100073"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082879"	"04210"	"00104989"	"01244"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000127975"	"04210"	"00155475"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127976"	"04210"	"00155476"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127977"	"04210"	"00155477"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127978"	"04214"	"00155478"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127979"	"04214"	"00155479"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000155401"	"04210"	"00207590"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155451"	"00058"	"00207662"	"01244"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155470"	"04210"	"00207680"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155475"	"04210"	"00207685"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207299"	"04210"	"00269474"	"03508"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000210288"	"04215"	"00275683"	"03552"	"Familial"	"10y?"	"HP:0007663 , HP:0000608, HP:0030500, HP:0000006"	""	"10y"	""	""	""	""	""	""	"STGD"	"genetic-based macular degeneration"	""
"0000230686"	"00198"	"00303622"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., visual impairment"	""	""	""	""	""	""	""	""	""	"visual impairment"	""
"0000233808"	"04214"	"00308381"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233809"	"04214"	"00308382"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233810"	"04214"	"00308383"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233811"	"04214"	"00308384"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233812"	"04214"	"00308385"	"00004"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233940"	"04214"	"00308512"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234062"	"04214"	"00308634"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234086"	"04214"	"00308658"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234087"	"04214"	"00308659"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234495"	"04214"	"00309175"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234496"	"04214"	"00309176"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234497"	"04214"	"00309177"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234498"	"04214"	"00309178"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234499"	"04214"	"00309179"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234500"	"04214"	"00309180"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234501"	"04214"	"00309181"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234502"	"04214"	"00309182"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234503"	"04214"	"00309183"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000234504"	"04214"	"00309184"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"maculopathy"	""
"0000234505"	"04214"	"00309185"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"maculopathy"	""
"0000234506"	"04214"	"00309186"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000234507"	"04214"	"00309187"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000234508"	"04214"	"00309188"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000234992"	"04214"	"00309673"	"00004"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone/cone-rod dystrophy"	""
"0000234993"	"04214"	"00309674"	"00004"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234994"	"04214"	"00309675"	"00004"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone/cone-rod dystrophy"	""
"0000234995"	"04214"	"00309676"	"00004"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234996"	"04214"	"00309677"	"00004"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234997"	"04214"	"00309678"	"00004"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234998"	"04214"	"00309679"	"00004"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone dystrophy, maculopathy"	""
"0000243918"	"04214"	"00325431"	"00006"	"Unknown"	""	"Leber congenital amaurosis"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243920"	"04214"	"00325433"	"00006"	"Familial, autosomal recessive"	""	"Leber congenital amaurosis"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243922"	"04214"	"00325435"	"00006"	"Familial, autosomal recessive"	""	"Leber congenital amaurosis"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243964"	"04214"	"00325477"	"00006"	"Unknown"	""	"cone-rod dystrophy"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243999"	"04214"	"00325512"	"00006"	"Familial, autosomal recessive"	""	"Leber congenital amaurosis"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246164"	"04214"	"00327937"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246232"	"04214"	"00328005"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246270"	"04214"	"00328043"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000246302"	"04214"	"00328075"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000246687"	"04214"	"00328461"	"00000"	"Unknown"	"14y"	"cone/cone-rod dystrophy (HP:0000548)"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246716"	"04214"	"00328490"	"00000"	"Familial, autosomal recessive"	"1y"	"retinal dystrophy (HP:0000556)"	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000249473"	"04214"	"00331279"	"00000"	"Familial, autosomal dominant"	"57y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250124"	"04214"	"00331933"	"00000"	"Familial, autosomal dominant"	"55y"	"metamorphopsia, photophobia; scotopic ERG normal; photopic ERG borderline"	"52y"	""	"metamorphopsia, photophobia"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250219"	"04214"	"00332028"	"00000"	"Familial, autosomal dominant"	"45y"	"photophobia; scotopic ERG normalreduced; photopic ERG borderline"	"40y"	""	"photophobia"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250220"	"04214"	"00332029"	"00000"	"Familial, autosomal dominant"	"26y"	"reduced visual acuity; scotopic ERG borderline; photopic ERG borderline"	"23y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250221"	"04214"	"00332030"	"00000"	"Familial, autosomal dominant"	"71y"	"reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline"	"50y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250222"	"04214"	"00332031"	"00000"	"Familial, autosomal dominant"	"46y"	"reduced visual acuity, scotoma; scotopic ERG normalreduced; photopic ERG borderline"	"25y"	""	"reduced visual acuity, scotoma"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250223"	"04214"	"00332032"	"00000"	"Familial, autosomal dominant"	"35y"	"reduced visual acuity; scotopic ERG not analyzable; photopic ERG not analyzable"	"17y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250224"	"04214"	"00332033"	"00000"	"Familial, autosomal dominant"	"61y"	"reduced visual acuity; scotopic ERG normal; photopic ERG borderline"	"53y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250386"	"04214"	"00332199"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250412"	"04214"	"00332225"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiplex retinitis pigmentosa"	""
"0000250450"	"04214"	"00332263"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000250547"	"04214"	"00332361"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250548"	"04214"	"00332362"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250549"	"04214"	"00332363"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250550"	"04214"	"00332364"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250551"	"04214"	"00332365"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250566"	"04214"	"00332380"	"00000"	"Familial, autosomal recessive"	"2y"	"Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250567"	"04214"	"00332381"	"00000"	"Familial, autosomal recessive"	"1y7m"	"Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250568"	"04214"	"00332382"	"00000"	"Familial, autosomal recessive"	"1y"	"Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250569"	"04214"	"00332383"	"00000"	"Familial, autosomal recessive"	"1y7m"	"horizontal pendular nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250570"	"04214"	"00332384"	"00000"	"Familial, autosomal recessive"	"21y6m"	"horizontal pendular nystagmus; yellowish fovea; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250646"	"04214"	"00332462"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000250656"	"04214"	"00332472"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000250680"	"04214"	"00332496"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000250681"	"04214"	"00332497"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000251546"	"04214"	"00333359"	"00000"	"Familial, autosomal dominant"	"37y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251552"	"04214"	"00333365"	"00000"	"Unknown"	"59y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251577"	"04214"	"00333390"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"RP"	""
"0000251590"	"04214"	"00333403"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"CRD"	""
"0000251609"	"04214"	"00333422"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"RP"	""
"0000251769"	"04214"	"00333585"	"00000"	"Familial, autosomal dominant"	"42y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251815"	"04214"	"00333631"	"00000"	"Familial, autosomal dominant"	"54y"	"clinical category IA1bii"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000251816"	"04214"	"00333632"	"00000"	"Familial, autosomal dominant"	"53y"	"clinical category IA1bii"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252110"	"04214"	"00333925"	"00000"	"Isolated (sporadic)"	"30y"	"clinical category IA1b"	""	""	""	""	""	""	""	""	""	"cone rod dystrophy"	""
"0000252601"	"04214"	"00334561"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252832"	"00198"	"00335117"	"00000"	"Unknown"	""	"0y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252833"	"00198"	"00335118"	"00000"	"Familial, autosomal recessive"	""	"8y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252834"	"00198"	"00335119"	"00000"	"Unknown"	""	"2y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252835"	"00198"	"00335120"	"00000"	"Familial, autosomal dominant"	""	"15y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252836"	"00198"	"00335121"	"00000"	"Familial, autosomal dominant"	""	"27y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252837"	"00198"	"00335122"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000252929"	"04214"	"00335214"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252930"	"04214"	"00335215"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252991"	"04214"	"00335276"	"02485"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253019"	"04214"	"00335304"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253020"	"04214"	"00335305"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253537"	"04214"	"00335592"	"00008"	"Familial, autosomal recessive"	"67y"	""	"<20y"	""	""	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa (ARRP)"	""
"0000253540"	"04214"	"00335595"	"00008"	"Isolated (sporadic)"	"13y"	""	"1y5m"	""	""	""	""	""	""	""	""	"isolated retinitis pigmentosa (IRP)"	""
"0000253541"	"04214"	"00335596"	"00008"	"Familial, autosomal recessive"	"67y"	""	"20y"	""	""	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa (arRP)"	""
"0000253542"	"04214"	"00335597"	"00008"	"Familial, autosomal recessive"	"3y"	""	"0y"	""	""	""	""	""	""	""	""	"Leber’s congenital amaurosis (LCA)"	""
"0000253543"	"04214"	"00335623"	"00008"	"Familial, autosomal recessive"	"1y3m"	"Night Blind; Nystagmus"	"3m"	""	""	""	""	""	""	""	""	"Leber’s congenital amaurosis (LCA)"	""
"0000253544"	"04214"	"00335624"	"00008"	"Familial, autosomal recessive"	"24y"	"Photophobia; Nystagmus; Pale-pink optic disc with drusen; severe narrowing of arterioles; macula is shiny and foveal area shows hypopigmentation with pigment alterations; periphery is hypopigmented with RPE alterations"	"3y"	""	""	""	""	""	""	""	""	"Leber’s congenital amaurosis (LCA)"	""
"0000253545"	"04214"	"00335625"	"00008"	"Familial, autosomal recessive"	"23y"	"Nystagmus; Keratoconus; Pink optic disc; narrowing of arterioles; foveal reflex normal; minimal mottling of RPE in the mid- and far periphery ()"	"5y"	""	""	""	""	""	""	""	""	"Leber’s congenital amaurosis (LCA)"	""
"0000253546"	"04214"	"00335626"	"00008"	"Familial, autosomal recessive"	""	"Nystagmus; Keratoconus"	""	""	""	""	""	""	""	""	""	"Leber’s congenital amaurosis (LCA)"	""
"0000253547"	"04214"	"00335627"	"00008"	"Familial, autosomal recessive"	"3y"	"Nystagmus; Gray optic disc"	"2m"	""	""	""	""	""	""	""	""	"Leber’s congenital amaurosis (LCA)"	""
"0000253548"	"04214"	"00335628"	"00008"	"Familial, autosomal recessive"	"25y"	"Nystagmus; Keratoconus; Relatively normal; Normal optic discs; attenuated vessels; no pigment alterations of the periphery"	""	""	""	""	""	""	""	""	""	"Leber’s congenital amaurosis (LCA)"	""
"0000253891"	"04214"	"00335976"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000254158"	"04214"	"00358898"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254159"	"04214"	"00358899"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254160"	"04214"	"00358900"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254161"	"04214"	"00358901"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254162"	"04214"	"00358902"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254163"	"04214"	"00358903"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254299"	"04214"	"00359001"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254305"	"04214"	"00359008"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000254306"	"04214"	"00359009"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000254312"	"04214"	"00359015"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000254351"	"04214"	"00359054"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254354"	"04214"	"00359057"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254359"	"04214"	"00359062"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254369"	"04214"	"00359072"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254385"	"04214"	"00359088"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254397"	"04214"	"00359100"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254398"	"04214"	"00359101"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254481"	"04214"	"00359184"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000257482"	"04214"	"00362068"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257483"	"04214"	"00362069"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257484"	"04214"	"00362070"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257485"	"04214"	"00362071"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257486"	"04214"	"00362072"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257574"	"04214"	"00362160"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000257601"	"04214"	"00362187"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258270"	"04214"	"00362904"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000258712"	"04214"	"00363347"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000258924"	"04214"	"00363574"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000258994"	"04214"	"00363644"	"00000"	"Familial"	""	"syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, neuroregression, global developmental delay, intractable seizures"	""
"0000259069"	"04214"	"00363719"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000259083"	"04214"	"00363733"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267398"	"04214"	"00372069"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267727"	"04214"	"00372412"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267728"	"04214"	"00372413"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267749"	"04214"	"00372434"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267750"	"04214"	"00372435"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267751"	"04214"	"00372436"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267752"	"04214"	"00372437"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267786"	"04214"	"00372471"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267787"	"04214"	"00372472"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267788"	"04214"	"00372473"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267789"	"04214"	"00372474"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267790"	"04214"	"00372475"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267791"	"04214"	"00372476"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267792"	"04214"	"00372477"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267804"	"04214"	"00372489"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000268638"	"04214"	"00373362"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268683"	"04214"	"00373407"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270197"	"04214"	"00374987"	"00006"	"Unknown"	"16y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"bull\'s-eye maculopathy"	""
"0000270654"	"04214"	"00375440"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MD"	""
"0000270674"	"04214"	"00375460"	"00000"	"Familial, autosomal recessive"	"5y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270676"	"04214"	"00375462"	"00000"	"Familial, autosomal recessive"	"6y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270677"	"04214"	"00375463"	"00000"	"Familial, autosomal recessive"	"4y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270680"	"04214"	"00375466"	"00000"	"Familial, autosomal recessive"	"3y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270685"	"04214"	"00375471"	"00000"	"Familial, autosomal recessive"	"2y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270720"	"04214"	"00375506"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000270721"	"04214"	"00375507"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000270722"	"04214"	"00375508"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000270723"	"04214"	"00375509"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000270724"	"04214"	"00375510"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000270725"	"04214"	"00375511"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000271486"	"04214"	"00376278"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271487"	"04214"	"00376279"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271488"	"04214"	"00376280"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271489"	"04214"	"00376281"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271490"	"04214"	"00376282"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271491"	"04214"	"00376283"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271492"	"04214"	"00376284"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271672"	"04214"	"00376465"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271673"	"04214"	"00376466"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271674"	"04214"	"00376467"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271677"	"04214"	"00376470"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271681"	"04214"	"00376474"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000271928"	"04214"	"00376717"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271929"	"04214"	"00376718"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271930"	"04214"	"00376719"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271934"	"04214"	"00376723"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271935"	"04214"	"00376724"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271936"	"04214"	"00376725"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271937"	"04214"	"00376726"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271938"	"04214"	"00376727"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271974"	"04214"	"00376763"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272021"	"04214"	"00376811"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272028"	"04214"	"00376818"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272336"	"04214"	"00377178"	"00000"	"Familial, autosomal dominant"	"39y"	"see paper"	"30y"	"33y"	""	""	""	""	""	""	"dystrophy, cone-rod, type 6 (CORD-6)"	"retinal disease"	""
"0000272340"	"04214"	"00377182"	"00000"	"Familial, autosomal dominant"	"13y"	"see paper"	"9y"	"12y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272341"	"04214"	"00377183"	"00000"	"Familial, autosomal dominant"	""	"see paper"	"8y"	"9y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272342"	"04214"	"00377184"	"00000"	"Familial, autosomal dominant"	""	"see paper"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000272343"	"04214"	"00377185"	"00000"	"Familial, autosomal dominant"	""	"see paper"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000272344"	"04214"	"00377186"	"00000"	"Familial, autosomal dominant"	""	"see paper"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000272397"	"04214"	"00377239"	"00000"	"Familial, autosomal dominant"	"23y"	"see paper"	"7y"	"22y"	""	""	""	""	""	""	"dystrophy, cone-rod, type 6 (CORD-6)"	"retinal disease"	""
"0000272398"	"04214"	"00377240"	"00000"	"Familial, autosomal dominant"	""	"see paper"	""	""	""	""	""	""	""	""	"dystrophy, cone-rod, type 6 (CORD-6)"	"retinal disease"	""
"0000272672"	"04214"	"00377522"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272681"	"04214"	"00377531"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272692"	"04214"	"00377542"	"00000"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272693"	"04214"	"00377543"	"00000"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272872"	"04214"	"00377721"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa, Other retinal degeneration"	""
"0000273020"	"04214"	"00377874"	"00000"	"Familial, autosomal recessive"	"25y"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273021"	"04214"	"00377875"	"00000"	"Isolated (sporadic)"	"1y5m"	""	"6m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273022"	"04214"	"00377876"	"00000"	"Isolated (sporadic)"	"5y2m"	""	"4m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273023"	"04214"	"00377877"	"00000"	"Unknown"	"7y8m"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273024"	"04214"	"00377878"	"00000"	"Isolated (sporadic)"	"9m"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273025"	"04214"	"00377879"	"00000"	"Isolated (sporadic)"	"8m"	""	"4m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273026"	"04214"	"00377880"	"00000"	"Isolated (sporadic)"	"5y6m"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273034"	"04214"	"00377888"	"00000"	"Unknown"	"3m"	""	"3m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273035"	"04214"	"00377889"	"00000"	"Unknown"	"5y"	""	"4m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273050"	"04214"	"00377904"	"00000"	"Isolated (sporadic)"	"11m"	"nystagmus, poor vision"	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273051"	"04214"	"00377905"	"00000"	"Isolated (sporadic)"	"2y"	"nystagmus, poor vision"	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273052"	"04214"	"00377906"	"00000"	"Isolated (sporadic)"	"3y2m"	"poor vision; photophobia; NYS"	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273055"	"04214"	"00377909"	"00000"	"Isolated (sporadic)"	"4y7m"	"nystagmus, poor vision"	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273056"	"04214"	"00377910"	"00000"	"Isolated (sporadic)"	"1y6m"	"poor vision; roving nystagmus"	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273101"	"04214"	"00377955"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Cone Distrophy"	""
"0000273102"	"04214"	"00377956"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273524"	"04210"	"00379680"	"03508"	"Familial, autosomal recessive"	""	"HP:0032122,\tHP:0000662,\tHP:0000613,\tHP:0001123,\tHP:0000639"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273695"	"04214"	"00379841"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000274857"	"04214"	"00381006"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274877"	"04214"	"00381026"	"00000"	"Isolated (sporadic)"	"<1y"	"poor vision, nystagmus"	"6y10m"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274879"	"04214"	"00381028"	"00000"	"Isolated (sporadic)"	"2m"	"poor vision, oculodigital sign, nystagmus"	"5m"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274880"	"04214"	"00381029"	"00000"	"Isolated (sporadic)"	"<1y"	"poor vision, oculodigital sign, photoaversion"	"6m"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274891"	"04214"	"00381040"	"00000"	"Di-genic"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274892"	"04214"	"00381041"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274895"	"04214"	"00381044"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274901"	"04214"	"00381050"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274935"	"04214"	"00381084"	"00000"	"Familial"	"43y"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000274997"	"04214"	"00381146"	"00000"	"Unknown"	""	""	"4y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275003"	"04214"	"00381152"	"00000"	"Unknown"	""	""	"2y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275004"	"04214"	"00381153"	"00000"	"Unknown"	""	""	"11y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275038"	"04214"	"00381187"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275039"	"04214"	"00381188"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275040"	"04214"	"00381189"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275059"	"04214"	"00381208"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275072"	"04214"	"00381221"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275073"	"04214"	"00381222"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275074"	"04214"	"00381223"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275075"	"04214"	"00381224"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275467"	"04214"	"00381625"	"00000"	"Familial, autosomal recessive"	""	""	"12y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275470"	"04214"	"00381628"	"00000"	"Familial, autosomal recessive"	""	""	"4y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275475"	"04214"	"00381633"	"00000"	"Familial, autosomal recessive"	""	""	"5y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275476"	"04214"	"00381634"	"00000"	"Familial, autosomal recessive"	""	""	"18y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275507"	"04214"	"00381665"	"00000"	"Familial, autosomal recessive"	""	""	"5y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275512"	"04214"	"00381670"	"00000"	"Familial, autosomal recessive"	""	""	"1y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275514"	"04214"	"00381672"	"00000"	"Familial, autosomal recessive"	""	""	"5y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275977"	"01647"	"00382135"	"00000"	"Familial, autosomal recessive"	""	"retinal dystrophy; MIM, 204000"	""	""	""	""	""	""	""	""	""	"MIM, 204000"	""
"0000276162"	"04214"	"00382313"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000276163"	"04214"	"00382314"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000276164"	"04214"	"00382315"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	""
"0000276400"	"04214"	"00382551"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	""
"0000276655"	"04214"	"00382799"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000277289"	"04214"	"00383504"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	""
"0000277290"	"04214"	"00383505"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	""
"0000277638"	"04214"	"00383853"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Cone-rod dystrophy"	""
"0000277639"	"04214"	"00383854"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	""
"0000277976"	"04214"	"00384191"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000277981"	"04214"	"00384196"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000278022"	"04214"	"00384237"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000278187"	"04214"	"00384402"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"high myopia+family exudative vitreoretinopathy?"	""
"0000278351"	"04214"	"00384564"	"00000"	"Familial, autosomal recessive"	"25y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278352"	"04214"	"00384565"	"00000"	"Familial, autosomal recessive"	"14y"	"counting fingers"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278353"	"04214"	"00384566"	"00000"	"Familial, autosomal recessive"	"28y"	"light perception"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278354"	"04214"	"00384567"	"00000"	"Familial, autosomal recessive"	"45y"	"counting fingers"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278355"	"04214"	"00384568"	"00000"	"Familial, autosomal recessive"	"42y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278356"	"04214"	"00384569"	"00000"	"Familial, autosomal recessive"	"5y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278357"	"04214"	"00384570"	"00000"	"Familial, autosomal recessive"	"40y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278358"	"04214"	"00384571"	"00000"	"Familial, autosomal recessive"	"22y"	"light perception"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278423"	"00198"	"00384633"	"00000"	"Unknown"	""	"Juvenile retinitis pigmentosa (AR) and primary ciliary dyskinesia"	""	""	""	""	""	""	""	""	"Mixed"	"Ciliopathy"	""
"0000278778"	"04214"	"00384994"	"00000"	"Familial, autosomal recessive"	"31y"	"photophobia, nystagmus, no oculodigital sign, ERG severely declined, best corrected visual acuity right/left eye: 0.05/0.05"	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278826"	"04214"	"00385042"	"00000"	"Isolated (sporadic)"	"6y"	"nyctalopia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.1/0.2"	"3y"	""	""	""	""	""	""	""	"early onset severe retinal dystrophy"	"early onset severe retinal dystrophy"	""
"0000278843"	"04214"	"00385059"	"00000"	"Isolated (sporadic)"	"1y"	"photophobia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA"	"2m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278848"	"04214"	"00385064"	"00000"	"Isolated (sporadic)"	"1y"	"nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NA"	"6m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278855"	"04214"	"00385071"	"00000"	"Isolated (sporadic)"	"4y"	"no nyctalopia/photophobia, nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NA"	"2m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278856"	"04214"	"00385072"	"00000"	"Isolated (sporadic)"	"24y"	"photophobia, nystagmus, oculodigital sign, best corrected visual acuity right/left eye: 0.1/0.1"	"6m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278861"	"04214"	"00385077"	"00000"	"Familial, autosomal recessive"	"5m"	"nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NA"	"3m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278863"	"04214"	"00385079"	"00000"	"Isolated (sporadic)"	"3y"	"photophobia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA"	"7m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000279422"	"04214"	"00385627"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Cone Dystrophies (CD)"	""
"0000279652"	"04214"	"00385848"	"00000"	"Familial, autosomal recessive"	"6y"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000279763"	"04214"	"00385962"	"00000"	"Familial, autosomal dominant"	""	""	"15y"	""	""	""	""	""	""	""	""	"cone rode dystrophy"	""
"0000279973"	"04214"	"00386170"	"00000"	"Familial, autosomal dominant"	"33y"	""	""	"33y"	""	""	""	""	""	""	"cone-rod dystrophy"	"Best macular dystrophy"	""
"0000280101"	"04214"	"00386298"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000281220"	"04214"	"00387657"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Childhood retinal disease"	""
"0000281749"	"04214"	"00388156"	"00000"	"Unknown"	"7m"	"Nystagmus: 2Hz vertical bilateral, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281750"	"04214"	"00388157"	"00000"	"Unknown"	"5m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281751"	"04214"	"00388158"	"00000"	"Unknown"	"2y0m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281752"	"04214"	"00388159"	"00000"	"Unknown"	"6m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281753"	"04214"	"00388160"	"00000"	"Unknown"	"7m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281754"	"04214"	"00388161"	"00000"	"Unknown"	"7m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281755"	"04214"	"00388162"	"00000"	"Unknown"	"20y4m"	"Nystagmus: Multidirectional bilateral symmetric, best corrected visual acuity right eye/left eye: 0.05/0.05, fundus: Macular dystrophy, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281756"	"04214"	"00388163"	"00000"	"Unknown"	"6m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: NA, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281757"	"04214"	"00388164"	"00000"	"Unknown"	"1y11m"	"Nystagmus: 2-3Hz LBJ bilateral symmetric, best corrected visual acuity right eye/left eye: CSM/CSM, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281776"	"04214"	"00388183"	"00000"	"Unknown"	"11y7m"	"Nystagmus: 3Hz pendular bilateral symmetric, best corrected visual acuity right eye/left eye: 0.05/0.05, fundus: Normal, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000282453"	"04214"	"00388912"	"00000"	"Familial, autosomal dominant"	"42y"	"age at genetic diagnosis mentioned"	""	"40y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000282454"	"04214"	"00388913"	"00000"	"Familial, autosomal dominant"	"61y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000282455"	"04214"	"00388914"	"00000"	"Familial, autosomal dominant"	"35y"	"age at genetic diagnosis mentioned"	""	"33y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000282456"	"04214"	"00388915"	"00000"	"Familial, autosomal dominant"	"88y"	"age at genetic diagnosis mentioned"	""	"86y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000282457"	"04214"	"00388916"	"00000"	"Familial, autosomal dominant"	"63y"	"age at genetic diagnosis mentioned"	""	"62y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000282611"	"04214"	"00389070"	"00000"	"Familial, autosomal recessive"	"18y"	"age at genetic diagnosis mentioned"	""	"15y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282612"	"04214"	"00389071"	"00000"	"Familial, autosomal recessive"	"20y"	"age at genetic diagnosis mentioned"	""	"17y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282613"	"04214"	"00389072"	"00000"	"Familial, autosomal recessive"	"8y"	"age at genetic diagnosis mentioned"	""	"5y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282777"	"04214"	"00389236"	"00000"	"Familial, autosomal dominant"	"37y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283156"	"04214"	"00389615"	"00000"	"Familial, autosomal dominant"	"13y"	"age at genetic diagnosis mentioned"	""	"8y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000283157"	"04214"	"00389616"	"00000"	"Familial, autosomal dominant"	"51y"	"age at genetic diagnosis mentioned"	""	"45y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000283239"	"04214"	"00389698"	"00000"	"Familial, autosomal dominant"	"41y"	"age at genetic diagnosis mentioned"	""	"34y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000283816"	"04214"	"00390278"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283817"	"04214"	"00390279"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284225"	"04214"	"00390737"	"00000"	"Familial, autosomal recessive"	"4y"	"Visual acuity right eye/left eye: 1/20_1/20_, normal fundus appearance, normal macula, ERG: extinct response"	"0m"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000284252"	"04214"	"00390764"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000284295"	"04214"	"00390807"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000284327"	"04214"	"00390839"	"00000"	"Unknown"	"21y-25y"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000284459"	"04214"	"00390971"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt’s disease (STGD)"	""
"0000284607"	"04214"	"00391165"	"00000"	"Unknown"	"18y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284608"	"04214"	"00391166"	"00000"	"Unknown"	"27y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284609"	"04214"	"00391167"	"00000"	"Unknown"	"36y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284610"	"04214"	"00391168"	"00000"	"Unknown"	"37y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284611"	"04214"	"00391169"	"00000"	"Unknown"	"46y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284612"	"04214"	"00391170"	"00000"	"Unknown"	"63y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284785"	"04214"	"00391345"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis 1(204000)"	"Leber congenital amaurosis 1(204000)"	""
"0000284912"	"04214"	"00391576"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000284966"	"04214"	"00391641"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/125;20/125"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284967"	"04214"	"00391642"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"3m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284968"	"04214"	"00391643"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284969"	"04214"	"00391644"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284970"	"04214"	"00391645"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284971"	"04214"	"00391646"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284972"	"04214"	"00391647"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284973"	"04214"	"00391648"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"2m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284974"	"04214"	"00391649"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: hand movement"	"2m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284975"	"04214"	"00391650"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: hand movement:light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284976"	"04214"	"00391651"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000285053"	"04214"	"00391728"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/80;20/70"	"7y"	""	""	""	""	""	""	""	"early-onset retinal dystrophy"	""	""
"0000285808"	"04214"	"00392561"	"00000"	"Familial, autosomal dominant"	"29y"	"best corrected visual acuity right_left eye: 20/20_20/20, affected sector: inferior_inferior"	"28y"	""	""	""	""	""	""	""	""	"sector retinitis pigmentosa"	""
"0000285813"	"04214"	"00392566"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	"cone-rod dystrophy"	""
"0000286687"	"04214"	"00393481"	"00000"	"Isolated (sporadic)"	"28y"	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis (LCA)"	""
"0000286836"	"04214"	"00393630"	"00000"	"Isolated (sporadic)"	"8y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000289048"	"04214"	"00395886"	"00000"	"Unknown"	"47y4m"	""	"6y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000289076"	"04214"	"00395914"	"00000"	"Unknown"	"46y6m"	""	"35y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000289100"	"04214"	"00395938"	"00000"	"Unknown"	"34y10m"	""	"22y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000289377"	"04214"	"00396215"	"00000"	"Familial, autosomal recessive"	"6y"	"2 month: nystagmus, sluggish, then absent pupillary responses, no fixation"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289381"	"04214"	"00396219"	"00000"	"Familial, autosomal recessive"	"7y"	"2 months: nystagmus, profound oculo-digital sign, no fixation, no pacing, no eye contact"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289384"	"04214"	"00396222"	"00000"	"Familial, autosomal recessive"	"8y"	"3 months: no fixation, no pacing, no eye contact"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289387"	"04214"	"00396225"	"00000"	"Familial, autosomal recessive"	"42y"	"3 months: nystagmus, no light perception"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289715"	"04214"	"00396554"	"00000"	"Familial, autosomal recessive"	"60y"	"night blindness"	"54y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000298493"	"04214"	"00405994"	"00000"	"Familial, autosomal recessive"	"3m"	"night blindness, nystagmus"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000298494"	"04214"	"00405995"	"00000"	"Familial, autosomal recessive"	"5y"	"-"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000298495"	"04214"	"00405996"	"00000"	"Familial, autosomal recessive"	"3y"	"Nystagmus, photophobia"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000298496"	"04214"	"00405997"	"00000"	"Familial, autosomal recessive"	""	"Nystagmus, photophobia"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000298497"	"04214"	"00405998"	"00000"	"Familial, autosomal recessive"	"2m"	"-"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000298498"	"04214"	"00405999"	"00000"	"Familial, autosomal recessive"	""	"Nystagmus, photophobia"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000298735"	"04214"	"00406237"	"00000"	"Familial, autosomal recessive"	"1y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: nystagmus, phenotype subgroup: Leber congenital amaurosis"	"0y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298736"	"04214"	"00406238"	"00000"	"Familial, autosomal recessive"	"12y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: night blindness, refraction right/left eye: -1 / -1, best corrected visual acuity right/left eye: 0.22 / 0.22, phenotype subgroup: cone-rod dystrophy (moderate)"	"3y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298737"	"04214"	"00406239"	"00000"	"Familial, autosomal dominant"	"73y"	"chief complaint: night blindness, refraction right/left eye: +1.5 / +3.5, best corrected visual acuity right/left eye: 1 / 1.52, phenotype subgroup: cone-rod dystrophy (severe)"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298738"	"04214"	"00406240"	"00000"	"Familial, autosomal dominant"	"30y"	"chief complaint: reduced visual acuity/ poor visual acuity, refraction right/left eye: -2.5 / 2.5, best corrected visual acuity right/left eye: 0.82 / 0.82, phenotype subgroup: cone-rod dystrophy (moderate)"	"23y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298739"	"04214"	"00406241"	"00000"	"Familial, autosomal dominant"	"61y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: photophobia, refraction right/left eye: -1.5 / -1.5, best corrected visual acuity right/left eye: 1.05 / 1.05, phenotype subgroup: cone-rod dystrophy (moderate)"	"21y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298740"	"04214"	"00406242"	"00000"	"Familial, autosomal dominant"	"31y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: photophobia, refraction right/left eye: -7 / -7, best corrected visual acuity right/left eye: 0 / 0.1, phenotype subgroup: cone-rod dystrophy (mild)"	"18y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298741"	"04214"	"00406243"	"00000"	"Familial, autosomal dominant"	"38y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: photophobia, refraction right/left eye: -5 / -5, best corrected visual acuity right/left eye: 1.52 / 1.52, phenotype subgroup: cone-rod dystrophy (severe)"	"7y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298742"	"04214"	"00406244"	"00000"	"Familial, autosomal dominant"	"36y"	"chief complaint: reduced visual acuity/ poor visual acuity, refraction right/left eye: -6 / -6.5, best corrected visual acuity right/left eye: 0.22 / 0.52, phenotype subgroup: cone-rod dystrophy (mild)"	"35y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298743"	"04214"	"00406245"	"00000"	"Familial, autosomal dominant"	"43y"	"chief complaint: reduced visual acuity/ poor visual acuity, refraction right/left eye: -6 / -6.5, best corrected visual acuity right/left eye: 0.7 / 0.7, phenotype subgroup: cone-rod dystrophy (moderate)"	"30y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298744"	"04214"	"00406246"	"00000"	"Familial, autosomal dominant"	"68y"	"refraction right/left eye: +1 / -2, best corrected visual acuity right/left eye: 0.82 / 1, phenotype subgroup: cone-rod dystrophy"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298745"	"04214"	"00406247"	"00000"	"Isolated (sporadic)"	"23y"	"chief complaint: photophobia, other ocular symptoms: color vision, refraction right/left eye: -11.5 / -11.5, best corrected visual acuity right/left eye: 0.15 / 0.15, phenotype subgroup: cone-rod dystrophy (mild)"	"23y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298746"	"04214"	"00406248"	"00000"	"Isolated (sporadic)"	"64y"	"chief complaint: reduced visual acuity/ poor visual acuity, phenotype subgroup: cone-rod dystrophy"	"41y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298747"	"04214"	"00406249"	"00000"	"Isolated (sporadic)"	"10y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: photophobia, refraction right/left eye: +1.5 / +1.5, best corrected visual acuity right/left eye: 1 / 1, phenotype subgroup: cone-rod dystrophy"	"0y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298748"	"04214"	"00406250"	"00000"	"Isolated (sporadic)"	"43y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: central visual field loss, refraction right/left eye: -10 / -12, best corrected visual acuity right/left eye: 0.8 / 0.6, phenotype subgroup: cone-rod dystrophy (moderate)"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298749"	"04214"	"00406251"	"00000"	"Isolated (sporadic)"	"71y"	"chief complaint: reduced visual acuity/ poor visual acuity, other ocular symptoms: photophobia, refraction right/left eye: 0 / 0, best corrected visual acuity right/left eye: 0.52 / 0.52, phenotype subgroup: macular dystrophy"	"55y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000298750"	"04214"	"00406252"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	"normal protein expression levels and subcellular localization, but significantly reduced the catalytic activity of ROS-GC1"	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298751"	"04214"	"00406253"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	"normal protein expression levels and subcellular localization, but significantly reduced the catalytic activity of ROS-GC1"	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298752"	"04214"	"00406254"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	"normal protein expression levels and subcellular localization, but significantly reduced the catalytic activity of ROS-GC1"	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298753"	"04214"	"00406255"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity: no light perception (NLP); keratoconus, oculo-digital sign, hyperopic refractive errors, and retinal degeneration; funduscopy: macular atrophy; . electroretinography: flat response"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298754"	"04214"	"00406256"	"00000"	"Familial, autosomal dominant"	"59y"	"left eye amblyopia due to squint, best corrected visual acuity right, left eye: 6/36, hand movements, Ishihara plates right, left eye 1/17, 0/17; fundus: bilateral bull’s eye maculopathy and temporal disc pallor; visual field: progressive central scotoma; electroretinography and visual evoked potentials: impaired cone function, preserved rod function, degraded and attenuated visual evoked potentia"	""	""	"Photophobia since adolescence"	""	""	""	""	""	"cone dystrophy"	""	""
"0000298755"	"04214"	"00406257"	"00000"	"Familial, autosomal dominant"	"28y"	"bilateral astigmatism, left eye amblyopia; best corrected visual acuity right, left eye: 6/15, 6/48 Ishihara plates right, left eye: 5/17, 1/17; fundus: bilateral retinal pigment epithelium changes; visual field: progressive central scotoma; electroretinography and visual evoked potentials: impaired cone function, preserved rod function, degraded and attenuated visual evoked potentials"	""	""	"Photophobia in early adolescence"	""	""	""	""	""	"cone dystrophy"	""	""
"0000298756"	"04214"	"00406258"	"00000"	"Familial, autosomal dominant"	"53y"	"53y: full-field electroretinography: cone flicker - 30Hz, IT in msec: extinguished, mixed cone-rod response (uV): extinguished; nystagmus"	""	""	""	"No activity; localisation: endoplasmic reticulum"	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298757"	"04214"	"00406259"	"00000"	"Familial, autosomal dominant"	"22y"	"22y: full-field electroretinography: cone flicker - 30Hz, IT in msec: extinguished, mixed cone-rod response (uV): extinguished; nystagmus; abnormal color vision"	""	""	""	"No activity; localisation: endoplasmic reticulum"	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298758"	"04214"	"00406260"	"00000"	"Familial, autosomal dominant"	"31y"	"31y: best corrected visual acuity: 0.33, full-field electroretinography: cone flicker - 30Hz, IT in msec: 7 (42), mixed cone-rod response (uV): 55, rod response - blue light (b, uV): 125; nystagmus; 34y: best corrected visual acuity: 0.25"	""	""	""	"No activity; localisation: endoplasmic reticulum"	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298759"	"04214"	"00406261"	"00000"	"Familial, autosomal dominant"	"8y"	"8y: best corrected visual acuity: 0.1"	""	""	""	"No activity; localisation: endoplasmic reticulum"	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298760"	"04214"	"00406262"	"00000"	"Isolated (sporadic)"	"1y"	"1y: best corrected visual acuity: 0.07, full-field electroretinography: cone flicker - 30Hz, IT in msec: extinguished, mixed cone-rod response (uV): extinguished; congenital nystagmus, photophobia scotopic lines; 4y: best corrected visual acuity: 0.1, full-field electroretinography: cone flicker - 30Hz, IT in msec: extinguished, mixed cone-rod response (uV): very low; 7y: full-field electroretinography: cone flicker - 30Hz, IT in msec: extinguished, mixed cone-rod response (uV): very low; 11y: full-field electroretinography: cone flicker - 30Hz, IT in msec: extinguished, mixed cone-rod response (uV): extinguished"	""	""	""	"activity increased: GC-E in a GCAP independent, permanently active form"	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298761"	"04214"	"00406263"	"00000"	"Isolated (sporadic)"	"24y"	"24y: full-field electroretinography: cone flicker - 30Hz, IT in msec: 34 (39.3), mixed cone-rod response (uV): a=230, b=229, rod response - blue light (b, uV): 232; 29y: full-field electroretinography: cone flicker - 30Hz, IT in msec: 21 (38.5), mixed cone-rod response (uV): a=174, b=241, rod response - blue light (b, uV): 152; tritanopia"	""	""	""	"activity decreased; inhibition by RD3: less effective; localisation: endoplasmic reticulum"	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298762"	"04214"	"00406264"	"00000"	"Familial, autosomal dominant"	"25y"	"25y: full-field electroretinography: cone flicker - 30Hz, IT in msec: 46 (32.9), mixed cone-rod response (uV)a=217, b=389, rod response - blue light (b, uV): 191; severe tritanopia, maculopathy"	""	""	""	"activity decreased; inhibition by RD3: less effective; localisation: endoplasmic reticulum"	""	""	""	""	"maculopathy"	""	""
"0000298763"	"04214"	"00406265"	"00000"	"Familial, autosomal recessive"	""	"extinct electroretinography responses and nystagmus; poor vision and nyctalopia before 1 year of age"	""	""	""	"No activity; localisation: endoplasmic reticulum"	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298764"	"04214"	"00406266"	"00000"	"Familial, autosomal recessive"	"44y"	"best corrected visual acuity right/left eye: hand motion / light perception"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298765"	"04214"	"00406267"	"00000"	"Familial, autosomal recessive"	"46y"	"best corrected visual acuity right/left eye: 20/320 / 20/250"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298766"	"04214"	"00406268"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity both eyes:  light perception, electroretinogram: extinguished, fundus both eyes: reduced foveal reflex, nystagmus both eyes, cataract both eyes"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298767"	"04214"	"00406269"	"00000"	"Familial, autosomal recessive"	"9y"	"best corrected visual acuity right/left eye: FC 0.15 m / FC 0.2 m, electroretinogram: extinguished, fundus both eyes: pigmentary changes, nystagmus both eyes, cataract left eye"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298768"	"04214"	"00406270"	"00000"	"Familial, autosomal recessive"	"4y"	"best corrected visual acuity both eyes:  uncertain light perception, electroretinogram: not available, fundus both eyes: reduced foveal reflex"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298769"	"04214"	"00406271"	"00000"	"Familial, autosomal recessive"	"3y"	"best corrected visual acuity both eyes:  uncertain light perception, electroretinogram: extinguished, fundus both eyes: normal, nystagmus both eyes"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298770"	"04214"	"00406272"	"00000"	"Familial, autosomal recessive"	"44y"	"best corrected visual acuity both eyes:  hand motion, electroretinogram: not available, fundus both eyes: normal, keratoconus both eyes, cataract both eyes"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298771"	"04214"	"00406273"	"00000"	"Familial, autosomal recessive"	"40y"	"best corrected visual acuity both eyes:  uncertain light perception, electroretinogram: extinguished, fundus both eyes: normal, nystagmus both eyes, keratoconus both eyes"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298772"	"04214"	"00406274"	"00000"	"Familial, autosomal recessive"	"10y6m"	"best corrected visual acuity both eyes:  uncertain light perception, electroretinogram: extinguished, fundus both eyes: pale, ghost vessels, nystagmus both eyes, keratoconus both eyes"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298773"	"04214"	"00406275"	"00000"	"Familial, autosomal recessive"	"12y"	"best corrected visual acuity both eyes:  light perception, electroretinogram: not available, fundus both eyes: pigmentary changes"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298774"	"04214"	"00406276"	"00000"	"Familial, autosomal dominant"	"29y"	"best corrected visual acuity right/left eye: 0.2/0.2, spherical refraction right/left eye: -4.0D/-3.0D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 96/83, electroretinography: dominantly cone reduction"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298775"	"04214"	"00406277"	"00000"	"Familial, autosomal dominant"	"32y"	"best corrected visual acuity right/left eye: 0.04/0.04, spherical refraction right/left eye: -4.75D/-5.25D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 58/50"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298776"	"04214"	"00406278"	"00000"	"Familial, autosomal dominant"	"7y"	"best corrected visual acuity right/left eye: 0.7/0.6, spherical refraction right/left eye: -6.75D/-7.0D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 158/154, color vision: yellow–blue defect, electroretinography: dominantly cone reducti"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298777"	"04214"	"00406279"	"00000"	"Isolated (sporadic)"	"28y"	"best corrected visual acuity right/left eye: 0.3/0/1, spherical refraction right/left eye: -5.0D/-8.75D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 120/139, electroretinography: dominantly cone reduction"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298778"	"04214"	"00406280"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right/left eye: 0.1/0.04, night blindness, spherical refraction right/left eye: -2.0D/-10.5D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 20/30, electroretinography: reduction in cone and rod responses"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298779"	"04214"	"00406281"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity right/left eye: 0.4/0.1, spherical refraction right/left eye: -1.75D/-2.75D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 120/120, color vision: no specific, electroretinography: dominantly cone reducti"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298780"	"04214"	"00406282"	"00000"	"Familial, autosomal dominant"	"20y"	"best corrected visual acuity right/left eye: 0.1/0.2, spherical refraction right/left eye: -6.5D/-7.5D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 136/142, electroretinography: dominantly cone reduction"	"6y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298781"	"04214"	"00406283"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right/left eye: 0.07/, spherical refraction right/left eye: -15.0D/-12.5D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 94/91"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298782"	"04214"	"00406284"	"00000"	"Familial, autosomal dominant"	"7y"	"best corrected visual acuity right/left eye: 0.3/0.3, spherical refraction right/left eye: -11.5D/-11.5D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 158/155"	"7y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298783"	"04214"	"00406285"	"00000"	"Isolated (sporadic)"	"4y"	"best corrected visual acuity right/left eye: 0.05/0.1, spherical refraction right/left eye: -2.5D/-3.0D, fundus: pronounced macular atrophy, optical coherence tomography  total retinal thickness right/left eye: 65/55, color vision: no specific abnormality, electroretinography: reduction in cone and rod respons"	"2y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298784"	"04214"	"00406286"	"00000"	"Familial, autosomal dominant"	"31y"	"best corrected visual acuity right/left eye: 31/01, nystagmus, spherical refraction right/left eye: NA, fundus: pronounced macular atrophy, optical coherence tomography  total retinal thickness right/left eye: 50/50, color vision: achromatopsia, electroretinography: loss of cone and reduction in rod responses"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298785"	"04214"	"00406287"	"00000"	"Familial, autosomal dominant"	"37y"	"best corrected visual acuity right/left eye: 0.02/0.02, nystagmus, spherical refraction right/left eye: N/A, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 166/175, color vision: achromatopsia, electroretinography: loss of cone and reduction in rod responses"	"15y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298786"	"04214"	"00406288"	"00000"	"Familial, autosomal dominant"	"4y"	"best corrected visual acuity right/left eye: N/A, nystagmus, spherical refraction right/left eye: N/A, fundus: almost normal, optical coherence tomography  total retinal thickness right/left eye: 210/200"	"2y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298787"	"04214"	"00406289"	"00000"	"Familial, autosomal dominant"	"9y"	"best corrected visual acuity right/left eye: 0.2/0.1, nystagmus, spherical refraction right/left eye: N/A, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 220/230, color vision: normal and blue defect"	"2y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298788"	"04214"	"00406290"	"00000"	"Familial, autosomal dominant"	"56y"	"best corrected visual acuity right/left eye: 0.1/0.2, spherical refraction right/left eye: -3.75D/-3.0D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: NA, color vision: red–green defe"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298789"	"04214"	"00406291"	"00000"	"Familial, autosomal dominant"	"53y"	"best corrected visual acuity right/left eye: 0.1/01, spherical refraction right/left eye: -6.25D/-6.0D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: NA, color vision: red–green defe"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298790"	"04214"	"00406292"	"00000"	"Familial, autosomal dominant"	"28y"	"best corrected visual acuity right/left eye: 0.5/0.5, spherical refraction right/left eye: -0.5D/-0.5D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography  total retinal thickness right/left eye: 151/151, color vision: red–green defect, electroretinography: dominantly cone reducti"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298791"	"04214"	"00406293"	"00000"	"Familial, autosomal recessive"	""	"blind since birth; congenital cataract, keratoconus, nystagmus, oculo-digital sign, no pupillary response to light; mydriasis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298792"	"04214"	"00406294"	"00000"	"Familial, autosomal recessive"	""	"blind since birth; congenital cataract, keratoconus, nystagmus, oculo-digital sign, no pupillary response to light"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298793"	"04214"	"00406295"	"00000"	"Familial, autosomal recessive"	""	"blind since birth; congenital cataract, keratoconus, nystagmus, oculo-digital sign, no pupillary response to light"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298794"	"04214"	"00406296"	"00000"	"Familial, autosomal recessive"	""	"blind since birth; congenital cataract, keratoconus, nystagmus, oculo-digital sign, no pupillary response to light; mydriasis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298799"	"04214"	"00406301"	"00000"	"Familial, autosomal recessive"	"32y"	"best corrected visual acuity right/left eye: 0.4; 0.5, refraction: sc; 0.0 sph -0,5 cyl 180deg Y, mild progression, tritan defect, granular corneal dystrophy"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298800"	"04214"	"00406302"	"00000"	"Familial, autosomal recessive"	"45y"	"best corrected visual acuity right/left eye: 0.1; 0.1, refraction: -2.25 sph; -1.5 sph -0.75 cyl 77deg, progressive, severe color confusions"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298801"	"04214"	"00406303"	"00000"	"Familial, autosomal recessive"	"59y"	"best corrected visual acuity right/left eye: 0.08; 0.08, refraction: -12.0 sph; -11.75 sph, progressive, severe color confusions"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298802"	"04214"	"00406304"	"00000"	"Familial, autosomal recessive"	"66y"	"best corrected visual acuity right/left eye: 0.04; 0.06, refraction: -7.75 sph -2.25 cyl 22deg -8.0 sph -2.5 cyl 126deg, progressive, severe color confusions"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298803"	"04214"	"00406305"	"00000"	"Familial, autosomal recessive"	"34y"	"negative electroretinogram, best corrected visual acuity right/left eye: 0.5; 0.4, refraction: -2.50 sph -1.25 cyl 10deg -3.0 sph -1.0 cyl 0deg, progressive, night blindness, tritan-tetartan defect, Strabismus"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298804"	"04214"	"00406306"	"00000"	"Familial, autosomal recessive"	"79y"	"negative electroretinogram, best corrected visual acuity right/left eye: 0.1; 0.05, refraction: -0.25 sph -1.0 cyl 90deg* -0.25 sph -1.0 cyl 90deg*, progressive, severe color confusions, pseudophakia, high myopia before operation"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298805"	"04214"	"00406307"	"00000"	"Familial, autosomal recessive"	"55y"	"negative electroretinogram, best corrected visual acuity right/left eye: 0.1; 0.1, refraction: -3.0 sph -1.0 cyl 18deg -4.5 sph, progressive, tritan-tetartan defect"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298806"	"04214"	"00406308"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right/left eye: 0.05; 0.16, refraction: -8.0 sph; -7.0 sph -4.0 cyl 160deg, progressive, tritan-tetartan defect, strabismus; Horner syndrome"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298807"	"04214"	"00406309"	"00000"	"Familial, autosomal recessive"	"42y"	"best corrected visual acuity right/left eye: CF (0.014);/ SF, refraction: -12.0 sph -3.5 cyl 15deg -12.5 sph -2.5 cyl 160deg, progressive, night blindness, na, strabismus"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298808"	"04214"	"00406310"	"00000"	"Familial, autosomal recessive"	"39y"	"best corrected visual acuity right/left eye: CF (0.014);/ SF, refraction: not available, progressive, night blindness, na, nystagmus"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298810"	"04214"	"00406313"	"00000"	"Familial, autosomal recessive"	"6m"	"best corrected visual acuity right/left eye: no fix and follow / no fix and follow, refractive error right/left eye: +8.25 / 7.5, electroretinogram: non-detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298811"	"04214"	"00406314"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right/left eye: light perception / light perception, refractive error right/left eye: 6 / 6, electroretinogram: non-detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298812"	"04214"	"00406315"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right/left eye: 20/160 / 20/200, refractive error right/left eye: 2.25 / 2.25, electroretinogram: rod electroretinogram detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298813"	"04214"	"00406316"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right/left eye: 20/125 / 20/100, refractive error right/left eye: 4.25 / 3.75, electroretinogram: rod electroretinogram detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298814"	"04214"	"00406317"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right/left eye: light perception / light perception, refractive error right/left eye: 3.5 / 3.5, electroretinogram: not performed"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298815"	"04214"	"00406318"	"00000"	"Familial, autosomal recessive"	"13y"	"best corrected visual acuity right/left eye: light perception / light perception, refractive error right/left eye: 3 / UP, electroretinogram: non-detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298816"	"04214"	"00406319"	"00000"	"Familial, autosomal recessive"	"19y"	"best corrected visual acuity right/left eye: 20/240 / 20/400, refractive error right/left eye: 23 / 23, electroretinogram: non-detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298817"	"04214"	"00406320"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity right/left eye: 20/160 / 20/200, refractive error right/left eye: plano / 1, electroretinogram: non-detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298818"	"04214"	"00406321"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity right/left eye: hand motion / counting fingers, refractive error right/left eye: 23.00 / 20.75, electroretinogram: rod electroretinogram detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298819"	"04214"	"00406322"	"00000"	"Familial, autosomal recessive"	"36y"	"best corrected visual acuity right/left eye: bare light perception / hand motion, refractive error right/left eye: +2.00 / +2.00, electroretinogram: non-detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298820"	"04214"	"00406323"	"00000"	"Familial, autosomal recessive"	"37y"	"best corrected visual acuity right/left eye: hand motion / hand motion, refractive error right/left eye: 22.00 / 22.00, electroretinogram: rod electroretinogram detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298824"	"04214"	"00406337"	"00000"	"Familial, autosomal dominant"	"21y"	"photoaversion, best corrected visual acuity right, left eye: 6/18, 6/18, refractive error: myopia, colour vision - Ishihara: 0/17, fundus: mild macular mottling"	"11y"	""	"reduced central vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000298825"	"04214"	"00406338"	"00000"	"Familial, autosomal dominant"	"44y"	"photoaversion, best corrected visual acuity right, left eye: 2/60, 3/60, refractive error: none, colour vision - Ishihara: 0/17, fundus: perifoveal retinal thinning"	"23y"	""	"reduced central vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000298826"	"04214"	"00406339"	"00000"	"Familial, autosomal dominant"	"44y"	"loss of colour and central vision, photoaversion, best corrected visual acuity right, left eye: 3/60, 1/60, refractive error: myopia, colour vision - Ishihara: 0/17, fundus: perifoveal retinal thinning"	"12y"	""	"reduced central vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000298827"	"04214"	"00406340"	"00000"	"Familial, autosomal dominant"	"28y"	"onset of photophobia: early childhood, no night blindness, best corrected visual acuity right / left eye: 0.5/0.5, refraction (diopters): -0.5x180,-0.5x175, fundus: retinal pigment epithelium granular abnormalities at the fovea, color vision: red- green defect, electroretinography: reduction in cone responses and normal rod responses"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298828"	"04214"	"00406341"	"00000"	"Familial, autosomal dominant"	"56y"	"onset of photophobia: early childhood, no night blindness, best corrected visual acuity right / left eye: 0.1/0.2, refraction (diopters): -2.75-1.0x180, -2.25-0.75x180, fundus: retinal pigment epithelium granular abnormalities at the fovea, color vision: red- green defect, electroretinography: not avail"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298829"	"04214"	"00406342"	"00000"	"Familial, autosomal dominant"	"53y"	"onset of photophobia: early childhood, no night blindness, best corrected visual acuity right / left eye: 0.1/01, refraction (diopters): -5.0-1.25x175,-4.5-1.50x180, fundus: retinal pigment epithelium granular abnormalities at the fovea, color vision: red- green defect, electroretinography: not avail"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298830"	"04214"	"00406343"	"00000"	"Familial, autosomal dominant"	""	"progressively reduced visual acuity from early childhood, reduced visual acuity, nystagmus, color vision defects, photophobia; no nyctalopia; full field electroretinography: dark-adapted were markedly reduced for both rod responses and combined cone and rod responses; photopic ERG amplitudes were reduced to a greater degree with significant delayed implicit time; 3y follow-up: severe decrease in visual acuity from 0.1 to 0.02 both eyes and increased photophobia; optical coherence tomography: slightly increased thinning of the macula"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298831"	"04214"	"00406344"	"00000"	"Familial, autosomal dominant"	""	"progressively reduced visual acuity from early childhood, reduced visual acuity, nystagmus, color vision defects, photophobia; no nyctalopia; full field electroretinography: dark-adapted were markedly reduced for both rod responses and combined cone and rod responses; photopic ERG amplitudes were reduced to a greater degree with significant delayed implicit time; 3y follow-up: severe decrease in visual acuity from 0.3 to 0.1 both eyes; 3y follow-up: fundus: no significantly enlarged area of maculopathy; optical coherence tomography: slightly increased thinning of the macula; fundus autofluorescence: large areas of hypofluorescence, extending beyond macular and across optic disc, surrounded by a hyperfluorescence ring"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298832"	"04214"	"00406345"	"00000"	"Familial, autosomal dominant"	""	"progressively reduced visual acuity from early childhood, reduced visual acuity, nystagmus, color vision defects, photophobia; no nyctalopia; full field electroretinography: dark-adapted were markedly reduced for both rod responses and combined cone and rod responses; photopic ERG amplitudes were reduced to a greater degree with significant delayed implicit time"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298833"	"04214"	"00406346"	"00000"	"Familial, autosomal dominant"	""	"progressively reduced visual acuity from early childhood, reduced visual acuity, nystagmus, color vision defects, photophobia; no nyctalopia; full field electroretinography: dark-adapted were markedly reduced for both rod responses and combined cone and rod responses; photopic ERG amplitudes were reduced to a greater degree with significant delayed implicit time"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298834"	"04214"	"00406347"	"00000"	"Familial, autosomal dominant"	""	"progressively reduced visual acuity from early childhood, reduced visual acuity, nystagmus, color vision defects, photophobia; no nyctalopia; full field electroretinography: dark-adapted were markedly reduced for both rod responses and combined cone and rod responses; photopic ERG amplitudes were reduced to a greater degree with significant delayed implicit time"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298835"	"04214"	"00406348"	"00000"	"Familial, autosomal dominant"	""	"progressively reduced visual acuity from early childhood, reduced visual acuity, nystagmus, color vision defects, photophobia; no nyctalopia; full field electroretinography: dark-adapted were markedly reduced for both rod responses and combined cone and rod responses; photopic ERG amplitudes were reduced to a greater degree with significant delayed implicit time"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298836"	"04214"	"00406349"	"00000"	"Familial, autosomal dominant"	""	"progressively reduced visual acuity from early childhood, reduced visual acuity, nystagmus, color vision defects, photophobia; no nyctalopia; full field electroretinography: dark-adapted were markedly reduced for both rod responses and combined cone and rod responses; photopic ERG amplitudes were reduced to a greater degree with significant delayed implicit time"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298837"	"04214"	"00406350"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000298838"	"04214"	"00406351"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000298851"	"04214"	"00406364"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298852"	"04214"	"00406365"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298853"	"04214"	"00406366"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298854"	"04214"	"00406367"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298855"	"04214"	"00406368"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298856"	"04214"	"00406369"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298857"	"04214"	"00406370"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298858"	"04214"	"00406371"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298859"	"04214"	"00406372"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298860"	"04214"	"00406373"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298861"	"04214"	"00406374"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298862"	"04214"	"00406375"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298864"	"04214"	"00406377"	"00000"	"Familial, autosomal dominant"	"70y"	"best corrected visual acuity right, left eye: 0.01/0.01, fundus: macular degeneration, central scotoma: severe, color vision: normal, nystagmus"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298865"	"04214"	"00406378"	"00000"	"Familial, autosomal dominant"	"61y"	"best corrected visual acuity right, left eye: 0.3/0.2, fundus: macular degeneration, central scotoma: N/A, color vision: normal, nystagmus"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298866"	"04214"	"00406379"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right, left eye: 0.01/0.01, fundus: macular degeneration salt-and-pepper fundus appearance in the posterior pole, central scotoma: moderate, color vision: normal, nystagmus"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298867"	"04214"	"00406380"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right, left eye: 0.2/0.2, fundus: tapetoretinal degeneration salt-and-pepper fundus appearance, central scotoma: moderate, color vision: normal, nystagmus"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298868"	"04214"	"00406381"	"00000"	"Familial, autosomal dominant"	"28y"	"best corrected visual acuity right, left eye: 0.3/0.1, fundus: discreet salt-and-pepper fundus appearance, central scotoma: moderate, color vision: normal, nystagmus"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298869"	"04214"	"00406382"	"00000"	"Familial, autosomal dominant"	"21y"	"best corrected visual acuity right, left eye: N/A, fundus: salt-and-pepper fundus appearance, central scotoma: moderate, color vision: normal, nystagmus"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298870"	"04214"	"00406383"	"00000"	"Familial, autosomal dominant"	"15y"	"best corrected visual acuity right, left eye: 0.1/0.1, fundus: poorly distinguishable macula, central scotoma: mild, color vision: normal, nystagmus"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298871"	"04214"	"00406384"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity: N/A, non-recordable electroretinogram, nystagmus, keratoconus in early teens, hyperopia (+7.50 spherical equivalent), retinitis pigmentosa-like retinal dystrophy"	"<3m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298872"	"04214"	"00406385"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298873"	"04214"	"00406386"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298874"	"04214"	"00406387"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298875"	"04214"	"00406388"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: 5/160, non-recordable electroretinogram, optic atrophy, diffuse vascular attenuation and retinal atrophy with midperiheral bone spicules"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298876"	"04214"	"00406389"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298877"	"04214"	"00406390"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298915"	"04214"	"00406428"	"00000"	"Familial, autosomal recessive"	"70y"	"best corrected visual acuity right, left eye: 0.01 / hand motions, nyctalopia, dyschromatopsia, electroretinography: subnormal, electrooculography Arden ratio right/left eye: 3.09 / 2.35, retinal pigment epithelium alterations (atrophy and hypertrophy) at the macula, chorioretinal atrophy: peripapillary: severe, peripheral: severe"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298916"	"04214"	"00406429"	"00000"	"Familial, autosomal recessive"	"43y"	"best corrected visual acuity right, left eye: 0.3 / 0.2, nyctalopia, dyschromatopsia, photophobia, electroretinography: subnormal, electrooculography Arden ratio right/left eye: 1.56 / 1.44, macular atrophy, chorioretinal atrophy: peripapillary: mild; peripheral:mild"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298917"	"04214"	"00406430"	"00000"	"Familial, autosomal recessive"	"46y"	"best corrected visual acuity right, left eye: 0.02 / 0.02, nyctalopia, dyschromatopsia, photophobia, electroretinography: subnormal, electrooculography Arden ratio right/left eye: 1.39 / 2.35, macular atrophy, chorioretinal atrophy: peripapillary: mild; peripheral:mild, bone spicule formation:mild"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298918"	"04214"	"00406431"	"00000"	"Familial, autosomal recessive"	"42y"	"best corrected visual acuity right, left eye: 0.2 / 0.2, nyctalopia, dyschromatopsia, electroretinography: subnormal, electrooculography Arden ratio right/left eye: 1.49 / 1.46, macular atrophy, chorioretinal atrophy: peripapillary: none; peripheral:severe, bone spicule formation:rare; paving-stone peripheral retinal degeneration"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298919"	"04214"	"00406432"	"00000"	"Familial, autosomal recessive"	"37y"	"best corrected visual acuity right, left eye: 0.01 / 0.01, nyctalopia, dyschromatopsia, photophobia, electroretinography: subnormal, electrooculography Arden ratio right/left eye: 1.69 / 4.34, macular atrophy, chorioretinal atrophy: peripapillary: severe; peripheral:severe, bone spicule formation:severe; retinal vessel attenuation"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298920"	"04214"	"00406433"	"00000"	"Familial, autosomal recessive"	"31y"	"best corrected visual acuity right, left eye: hand motions / hand motions, nyctalopia, dyschromatopsia, photophobia, electroretinography: subnormal, electrooculography Arden ratio right/left eye: 1.96 / 1.81, macular atrophy, chorioretinal atrophy: peripapillary: mild; peripheral:normal, bone spicule formation:"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298924"	"04214"	"00406437"	"00000"	"Familial, autosomal dominant"	"13y"	"best corrected visual acuity right, left eye: 20/40 (without pinhole improvement),  20/63 (with pinhole improvement to 20/40); anterior segment: intraocular pressure: 17 mmHg bilaterally; fundus: mild, granular appearance of the perifoveal retinal pigment epithelium both eyes; optic nerves: normal, no vascular attenuation, no yellow flecks suggestive of Stargardt disease, no pigment changes in the periphery; fluorescein angiography: granular perifoveal appearance with hyperfluorescence from a few window defects, no dark choroid; color vision: normal hue discrimination in both eyes with a suggestion of errors along the tritan axis; visual field: patchy loss of sensitivity within the central 10deg of each eye; spectral domain optical coherence tomography: focal reflectivity abnormalities at the photoreceptor layer in each eye starting at the inner/outer segment junction including the OS layer; central subfield thickness right / left eye: 199 / 201 mm; time-domain optical coherence tomography: central subfield measurements 134 / 143 mm (abnormally thin retina at the fovea); autofluorescence: mild, perifoveal ring of hyperfluorescence in each eye; centrally no hyperfluorescence, which correlated with more pronounced abnormalities and thinning of the retinal pigment epithelium; electroretinography: compromised cone-mediated inner retinal responses with below normal amplitudes and normal latencies; rod responses: normal"	"10y"	""	"progressive loss of vision"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298926"	"04214"	"00406439"	"00000"	"Unknown"	""	""	""	""	""	"failed to show any activation with wild-type GCAP1; cannot bind GCAP1, but does not influence wild type protein (no dominant effect)"	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298927"	"04214"	"00406440"	"00000"	"Unknown"	""	""	""	""	""	"failed to show any activation with wild-type GCAP1; cannot bind GCAP1, but does not influence wild type protein (no dominant effect)"	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298928"	"04214"	"00406441"	"00000"	"Familial, autosomal recessive"	"20y"	"best corrected visual acuity better eye: light perception"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298929"	"04214"	"00406442"	"00000"	"Familial, autosomal recessive"	"33y"	"best corrected visual acuity better eye: light perception"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298930"	"04214"	"00406443"	"00000"	"Familial, autosomal recessive"	"53y"	"best corrected visual acuity better eye: 20/400"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298948"	"04214"	"00406462"	"00000"	"Familial, autosomal dominant"	"32y"	"best corrected visual acuity right, left eye: 0.8/0.8, spherical refraction: , color vision: PD15 sat; protan/ deutan defect, dark adaptation: normal, night vision: abnormal"	"19y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298949"	"04214"	"00406463"	"00000"	"Familial, autosomal dominant"	"30y"	"best corrected visual acuity right, left eye: 0.8/0.6, spherical refraction: 2.5/-3.0"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298950"	"04214"	"00406464"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right, left eye: 0.2/0.1, spherical refraction: -5.75/-2.5, color vision: PD15 sat: right eye protan/deutan defect  left eye chaotic  nagel anomaloscope: right eye/left eye no color discrimination, glare sensitivity: increased, dark adaptation: normal, night vision: normal"	"<1y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298951"	"04214"	"00406465"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right, left eye: 0.4/0.5, spherical refraction: -2.5/-3.5, color vision: PD15 sat: only minor errors, glare sensitivity: increased, dark adaptation: normal, night vision: normal"	"<1y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298952"	"04214"	"00406466"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity right, left eye: 0.4/0.3, spherical refraction: 0.5/0.5, color vision: many errors, glare sensitivity: normal, dark adaptation: normal, night vision: normal"	"<18y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298953"	"04214"	"00406467"	"00000"	"Familial, autosomal dominant"	"6y"	"best corrected visual acuity right, left eye: 0.5/0.5, spherical refraction: , color vision: normal, dark adaptation: threshold, night vision: normal"	"<1y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298954"	"04214"	"00406468"	"00000"	"Familial, autosomal dominant"	"53y"	"best corrected visual acuity right, left eye: 0.02/0.04, spherical refraction: 1/4, color vision: subjectively poor, glare sensitivity: increased, amblyopia right eye"	"<18y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298955"	"04214"	"00406469"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right, left eye: 0.1/0.1, spherical refraction: 3.5/3, color vision: subjectively poor, glare sensitivity: increased"	"<18y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298956"	"04214"	"00406470"	"00000"	"Familial, autosomal dominant"	"20y"	"best corrected visual acuity right, left eye: 0.05/0.05, spherical refraction: 2/2.5, color vision: subjectively poor, glare sensitivity: increased"	"<18y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298957"	"04214"	"00406471"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right, left eye: 0.3/0.05, spherical refraction: 0.5/0.5, color vision: PD15 rat; unable to discriminate colors; nagel anomaloscope; protan defect, glare sensitivity: increased, night vision: normal"	"<18y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298958"	"04214"	"00406472"	"00000"	"Familial, autosomal dominant"	"16y"	"best corrected visual acuity right, left eye: 0.8/0.8, spherical refraction: 4.0/4.24, color vision: PD15 desat: normal, glare sensitivity: increased"	"15y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298959"	"04214"	"00406473"	"00000"	"Familial, autosomal dominant"	"40y"	"best corrected visual acuity right, left eye: 0.5/0.4, spherical refraction: -3.0/-4.75, color vision: PD15 sat: unable to discriminate colors, glare sensitivity: increased, night vision: normal"	"10y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298960"	"04214"	"00406474"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right, left eye: 0.05/0.02, spherical refraction: -8.0/7.75, color vision: PD15 sat: tritan defect, glare sensitivity: increased, night vision: normal"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298961"	"04214"	"00406475"	"00000"	"Familial, autosomal dominant"	"48y"	"best corrected visual acuity right, left eye: HM/LP, spherical refraction: , color vision: no color discrimination"	"<18y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298962"	"04214"	"00406476"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right, left eye: 0.1/0.05, spherical refraction: 0.75/0.75, color vision: no color discrimination, glare sensitivity: increased, dark adaptation: normal, night vision: normal"	"<30y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298963"	"04214"	"00406477"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right, left eye: 0.4/0.4, spherical refraction: -7.75/-7.75, color vision: no color discrimination, glare sensitivity: increased, dark adaptation: normal, night vision: normal"	"17y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298964"	"04214"	"00406478"	"00000"	"Familial, autosomal dominant"	"32y"	"best corrected visual acuity right, left eye: 0.03/HM, spherical refraction: 2.0/2.0, color vision: PD15 sat: unable to discriminate colors, glare sensitivity: increased, dark adaptation: threshold greatly elevated (2.5 log units), night vision: normal"	"<1y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298965"	"04214"	"00406479"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right, left eye: 0.03/0.04, spherical refraction: -6.5/-8.25, color vision: PD15 sat: unable to discriminate colors, glare sensitivity: increased, dark adaptation: threshold slightly elevated (1 log unit), night vision: normal"	"<1y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298966"	"04214"	"00406480"	"00000"	"Familial, autosomal dominant"	"54y"	"best corrected visual acuity right, left eye: 0.03/0.03, spherical refraction: -3.25/-4.75, color vision: PD15 sat: unable to discriminate colors, glare sensitivity: increased, dark adaptation: threshold greatly elevated by (2.5 log units), night vision: normal"	"<18y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000298967"	"04214"	"00406481"	"00000"	"Unknown"	""	"best corrected visual acuity right, left eye: 0.8/0.8, spherical refraction: , color vision: PD15 sat; protan/ deutan defect, dark adaptation: normal, night vision: abnormal"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298968"	"04214"	"00406495"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298969"	"04214"	"00406496"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298970"	"04214"	"00406497"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298971"	"04214"	"00406498"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298972"	"04214"	"00406499"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298973"	"04214"	"00406500"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298974"	"04214"	"00406501"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298975"	"04214"	"00406502"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298976"	"04214"	"00406503"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298977"	"04214"	"00406504"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298978"	"04214"	"00406505"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298979"	"04214"	"00406506"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298980"	"04214"	"00406507"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298981"	"04214"	"00406508"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298982"	"04214"	"00406509"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298983"	"04214"	"00406510"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298984"	"04214"	"00406511"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298985"	"04214"	"00406512"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298986"	"04214"	"00406513"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298987"	"04214"	"00406514"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298988"	"04214"	"00406515"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298989"	"04214"	"00406516"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298990"	"04214"	"00406517"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298991"	"04214"	"00406518"	"00000"	"Familial, autosomal recessive"	"20y"	"vision: counting fingers, bilateral nystagmus, fundus: retinal vessel narrowing"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298992"	"04214"	"00406519"	"00000"	"Familial, autosomal recessive"	"21y"	"vision: hand motion, fundus: retinal vessel narrowing, hyperpigmentation"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298993"	"04214"	"00406520"	"00000"	"Familial, autosomal recessive"	"13y"	"vision: counting fingers, fundus: retinal vessel narrowing, hyperpigmentation"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298994"	"04214"	"00406521"	"00000"	"Familial, autosomal recessive"	"11y"	"vision: light perception, bilateral nystagmus, fundus: retinal vessel narrowing"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298995"	"04214"	"00406522"	"00000"	"Familial, autosomal recessive"	"23y"	"vision: hand motion, bilateral nystagmus, fundus: retinal vessel narrowing"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298996"	"04214"	"00406523"	"00000"	"Familial, autosomal recessive"	"24y"	"vision: light perception, bilateral nystagmus, fundus: retinal vessel narrowing, hyperpigmentation, cataract"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298997"	"04214"	"00406524"	"00000"	"Familial, autosomal recessive"	"18y"	"vision: counting fingers, bilateral nystagmus, fundus: retinal vessel narrowing"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298998"	"04214"	"00406525"	"00000"	"Familial, autosomal recessive"	"25y"	"vision: light perception/no light perception, bilateral nystagmus, keratoconus, fundus: retinal vessel narrowing, cataract"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299000"	"04214"	"00406526"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"early-onset retinitis pigmentosa"	""	""
"0000299053"	"04214"	"00406578"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early-onset cone-rod dystrophy"	""	""
"0000299054"	"04214"	"00406579"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early-onset cone-rod dystrophy"	""	""
"0000299055"	"04214"	"00406580"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early-onset cone-rod dystrophy"	""	""
"0000299056"	"04214"	"00406581"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299057"	"04214"	"00406582"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299058"	"04214"	"00406583"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299059"	"04214"	"00406584"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299081"	"04214"	"00406607"	"00000"	"Familial, autosomal dominant"	"50y"	"best-corrected visual acuity: 0.4; mild myopia, anterior segment: mild cataracts in both eyes; fundus: bull’s eye maculopathy similar to macular degeneration both eyes; periphery: no apparent abnormalities; no pendular nystagmus; fluorescein angiography: granular hyperfluorescence corresponding to the macular degeneration; failed Ishihara color plates and panel D-15 test with a tritan axis; Goldmann kinetic perimetry: central scotoma of about 10-20deg; The full-field photopic electroretinogram and the 30 Hz flicker electroretinogram: almost unrecordable, amplitude of the scotopic b-wave: significantly reduced, the a- and b-waves of the bright-flash mixed rod-cone electroretinograms and the oscillatory potentials: reduc"	"40y"	""	"reduced vision"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299088"	"04214"	"00406612"	"00000"	"Familial, autosomal recessive"	"20y"	"17y: refraction: myopia (-15 and -10 dioptries); peripheral reduction of the visual field with preservation of the macular area, night blindness; visual acuity right, left eye: 2/20, 1/20, correct near vision; colour vision: normal; electroretinogram: severely reduced amplitudes of all components"	""	""	""	""	""	""	""	""	"early-onset severe retinitis pigmentosa"	""	""
"0000299089"	"04214"	"00406613"	"00000"	"Familial, autosomal recessive"	"20y"	"13m: ophthalmoscopic and electrophysiologic examinations: fundus appearance, hypermetropia of +8, non recordable electroretinogram (ERG) and visual evoked potentials (VEP); 13y: concentric reduction of the visual field and a central scotoma; 17y of visual acuity was reduced to 1/15 and 1/17, severe photophobia"	"1y1m"	""	"congenital nystagmus, roving eye movements and inability to follow lights or objects"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299090"	"04214"	"00406614"	"00000"	"Familial, autosomal recessive"	"2m"	"2m: hypermetropia of +3; fundus: a normal, but for a loss of macular reflex; electroretinogram: responses flat for both rods and cones"	"2m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299091"	"04214"	"00406615"	"00000"	"Familial, autosomal dominant"	"76y"	"best-corrected visual acuity right/left eye: 0.01/0.02, chorioretinal atrophy in the macular region with a central scotoma in both eyes; fluorescein angiography: hypofluorescence around the macula, reflecting the retinochoroidal atrophy; no color testing due to poor visual acuity; electroretinogram similar to those of the proband (full-field photopic electroretinogram and the 30 Hz flicker electroretinogram: almost unrecordable, amplitude of the scotopic b-wave: significantly reduced, the a- and b-waves of the bright-flash mixed rod-cone electroretinograms and the oscillatory potentials: reduced) although they were more severely reduced"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299092"	"04214"	"00406617"	"00000"	"Familial, autosomal dominant"	"42y"	"best-corrected visual acuity right, left eye: 0.4/0.6 with high myopic refractive errors of -7.50 -0.75 x 15deg / -6.00 -1.00 x 175deg in the left eye; ophthalmoscopy: myopic fundus changes - chorioretinal atrophy around the optic disc, no significant abnormality in maculae; fluorescein angiography: minimum hyperfluorescence pigmentary changes in both maculae, color visual tests revealed severe color visual defects with a scotopic axis; 45y: best-corrected visual acuity reduced to 0.08 / 0.1 in the 50y: 0.03 / 0.02 with enlargement of the blind spot of Mariotte; full-field scotopic electroretinograms: low end of normal, photopic ERGs: nonrecordable, 30-Hz flicker ERGs: significantly reduced in both cases; a- and b-waves of the bright-flash rod-cone mixed ERGs: mildly reduced; a and b-waves and oscillatory potentials of the photopic focal macular ERGs: significantly reduced; light- and dark-adapted two-color perimetry: sensitivity level for the light-adapted test at least 15dB at all test points, with higher levels near the center of the visual field; light-adapted sensitivity - significant reduction of cone sensitivity within 20deg to 30deg of the macula"	"40y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299093"	"04214"	"00406618"	"00000"	"Familial, autosomal dominant"	"27y"	"25y: decline in visual acuity; best-corrected visual acuity: 0.1 both eyes; ophthalmoscopy: high myopia (-12.00 -1.00 x 80deg in the right eye and -11.00 -2.50 x 135deg in the left eye) and light pigmentary atrophy in both maculae more apparent by fluorescein fundus angiography; Goldmann kinetic perimetry using the I-4e isopter: a central scotoma of about 10deg in both eyes; color vision tests: severe color vision defects with a red-green or scotopic axis; 27y: best-corrected visual acuity right, left eye: 0.03 / 0.06; full-field scotopic electroretinograms: low end of normal, photopic ERGs: nonrecordable, 30-Hz flicker ERGs: significantly reduced in both cases; a- and b-waves of the bright-flash rod-cone mixed ERGs: mildly reduced; a and b-waves and oscillatory potentials of the photopic focal macular ERGs: significantly reduced; light- and dark-adapted two-color perimetry: sensitivity level for the light-adapted test at least 15dB at all test points, with higher levels near the center of the visual field; light-adapted sensitivity: significant reduction of cone sensitivity within 20deg to 30deg of the macula"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299094"	"04214"	"00406619"	"00000"	"Familial, autosomal dominant"	"34y"	"best-corrected visual acuity right, left eye: 0.3 / 0.15, high myopic refractive errors of -11.00 -1.00 x 180deg in the right eye and -12.00 -1.50 x 175deg in the left eye; ophthalmoscopy: chorioretinal atrophy in the superior fundus of both eyes, no apparent abnormality in either macula; fluorescein angiography: hyperfluorescent window defect corresponding to the superior chorioretinal atrophy, small hyperfluorescent window defect in the fovea of both eyes; visual field: not recognized the I-4e isopter throughout the visual fields, central or paracentral scotoma of about 10deg to 20deg III-4e isopter; panel-D15 color vision test: tritan abnormality; scotopic b-wave of the full-field electroretinogram: mildly reduced, photopic and 30-Hz flicker electroretinogram: not recordable, bright-flash rod-cone mixed electroretinogram, both the a- and b-waves mildly reduced, oscillatory potentials not present; a- and b-waves and oscillatory potentials of the focal macular ERGs: very reduced"	""	""	"reduced vision"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299095"	"04214"	"00406620"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299096"	"04214"	"00406630"	"00000"	"Familial, autosomal recessive"	""	"poor fixation noted during the first six months of life, sensory nystagmus, poor pupillary light reflex, essentially normal retinal appearance, with mild vascular attenuation, hyperopic refractions, abolished electroretinograms (performed early in the disease process)"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299097"	"04214"	"00406631"	"00000"	"Familial, autosomal recessive"	""	"poor fixation noted during the first six months of life, sensory nystagmus, poor pupillary light reflex, essentially normal retinal appearance, with mild vascular attenuation, hyperopic refractions, abolished electroretinograms (performed early in the disease process)"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299098"	"04214"	"00406632"	"00000"	"Familial, autosomal recessive"	""	"poor fixation noted during the first six months of life, sensory nystagmus, poor pupillary light reflex, essentially normal retinal appearance, with mild vascular attenuation, hyperopic refractions, abolished electroretinograms (performed early in the disease process)"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299099"	"04214"	"00406633"	"00000"	"Familial, autosomal recessive"	""	"poor fixation noted during the first six months of life, sensory nystagmus, poor pupillary light reflex, essentially normal retinal appearance, with mild vascular attenuation, hyperopic refractions, abolished electroretinograms (performed early in the disease process)"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299100"	"04214"	"00406634"	"00000"	"Familial, autosomal dominant"	"25y"	"best-corrected visual acuity right / left eye: 0.1 / 0.09, severe myopic refractive errors of approximately -10 diopters in each eye, failed all of the Ishihara color plates, panel D-15 test: tritanomaly; fundus: only minimal disruption with tiny yellow deposits in the fovea, fluorescein angiography: no apparent abnormality, Goldmann kinetic perimetry: no visual field defect; full-field electroretinograms (ERG): photopic and 30 Hz flicker ERGs: almost nonrecordable, the amplitude of scotopic b-wave subnormal, bright-flash mixed rod-cone ERG, the a- and b-waves as well as the oscillatory potentials (OPs): normal; focal macular cone ERGs: a- and b-waves and osciliatory potentials: very reduced"	"20y"	""	"reduction of visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299101"	"04214"	"00406635"	"00000"	"Familial, autosomal dominant"	"57y"	"best-corrected visual acuity: 0.09 each eye, macular degeneration in both eyes with bilateral paracentral scotoma, failed all of the Ishihara color plates, failed the panel D-15 test without any axis"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299102"	"04214"	"00406636"	"00000"	"Familial, autosomal dominant"	"83y"	"best-corrected visual acuity best corrected visual acuity right / left eye: 0.05 / 0.01,  central atrophic retinal lesions and the central scotoma (larger than that of her son), barely able to perform the Ishihara color vision and panel D-15 tests because of poor vision"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299103"	"04214"	"00406637"	"00000"	"Familial, autosomal dominant"	"29y"	"best corrected visual acuity: 0.2 in each eye, only mild fundus changes with almost normal visual field, similar to those of the proband, failed the panel D-15 test without any axis"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299104"	"04214"	"00406638"	"00000"	"Familial, autosomal dominant"	"29y"	"best corrected visual acuity: 0.2 in each eye, only mild fundus changes with almost normal visual field, similar to those of the proband, failed the panel D-15 test without any axis"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299105"	"04214"	"00406639"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299106"	"04215"	"00406640"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299107"	"04214"	"00406656"	"00000"	"Unknown"	""	"6y: nystagmus and exotropia; visual acuities: 1/200; cycloplegic retinoscopy: 4.00 both eyes; ophthalmoscopy: attenuated retinal vessels and a granular appearance to the fundus, most obvious in the midperiphery; visual field: limited to a central island of function electroretinogram: no detectable rod b-waves to a dim blue flash, dark adapted, but there were abnormally reduced waveforms to a maximal mixed cone-rod stimulus and to cone stimuli at 1 Hz and 29 Hz; 9y and 10y visual acuities decline to light perception, no measurable visual field; ophthalmoscopic appearance unchanged, except for faint bone spicule pigment in the midperiphery; macula did not seem to be atrophic; optical coherence tomography at extrafoveal locations, retinal thickness; 11,5 y: died from complications after tonsillectomy"	"<1y"	""	"as an infant had abnormal eye movements and visual disturbances"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299108"	"04214"	"00406657"	"00000"	"Unknown"	""	"6y: no nystagmus or strabismus; visual acuities: 20/200; cycloplegic retinoscopy: was +3.00 - 1.50 x 180 both eyes; ophthalmoscopy: attenuated retinal vessels, some granularity to the fundus appearance; visual field: slight generalized constriction but full in peripheral extent; response to a I-4e target was mainly in the peripheral field with a relative central and midperipheral scotomas; electroretinogram: no detectable rod b-waves; responses to a mixed cone-rod stimulus and to cone stimuli: abnormally reduced; optical coherence tomography – fovea: relatively normal contour retinal thinni"	"4y"	""	"visual inattention and night vision disturbances"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299109"	"04214"	"00406658"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299110"	"04214"	"00406659"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299111"	"04214"	"00406660"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299112"	"04214"	"00406661"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299113"	"04214"	"00406662"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299114"	"04214"	"00406663"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299115"	"04214"	"00406664"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299116"	"04214"	"00406665"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299117"	"04214"	"00406666"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299118"	"04214"	"00406667"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299119"	"04214"	"00406668"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299120"	"04214"	"00406669"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299121"	"04214"	"00406670"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299122"	"04214"	"00406671"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299123"	"04214"	"00406672"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299124"	"04214"	"00406673"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299125"	"04214"	"00406674"	"00000"	"Familial, autosomal dominant"	""	"decreased vision acuity, with severe color dyschromatopsia and photophobia during the 1st decade of life; at this stage ophthalmoscopical examinations not specific; electrophysiological testing: marked loss of photopic function, with scotopic function relatively well preserved; visual field: consistent central scotoma; during the 2d and 3d decades visual acuity decreased dramatically, color-vision defect confined to achromatopsia"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299126"	"04214"	"00406675"	"00000"	"Familial, autosomal dominant"	""	"decreased vision acuity, with severe color dyschromatopsia and photophobia during the 1st decade of life; at this stage ophthalmoscopical examinations not specific; electrophysiological testing: marked loss of photopic function, with scotopic function relatively well preserved; visual field: consistent central scotoma; during the 2d and 3d decades visual acuity decreased dramatically, color-vision defect confined to achromatopsia"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299127"	"04214"	"00406676"	"00000"	"Familial, autosomal dominant"	""	"decreased vision acuity, with severe color dyschromatopsia and photophobia during the 1st decade of life; at this stage ophthalmoscopical examinations not specific; electrophysiological testing: marked loss of photopic function, with scotopic function relatively well preserved; visual field: consistent central scotoma; during the 2d and 3d decades visual acuity decreased dramatically, color-vision defect confined to achromatopsia"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299128"	"04214"	"00406677"	"00000"	"Familial, autosomal dominant"	""	"decreased vision acuity, with severe color dyschromatopsia and photophobia during the 1st decade of life; at this stage ophthalmoscopical examinations not specific; electrophysiological testing: marked loss of photopic function, with scotopic function relatively well preserved; visual field: consistent central scotoma; during the 2d and 3d decades visual acuity decreased dramatically, color-vision defect confined to achromatopsia"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299129"	"04214"	"00406678"	"00000"	"Familial, autosomal dominant"	""	"decreased vision acuity, with severe color dyschromatopsia and photophobia during the 1st decade of life; at this stage ophthalmoscopical examinations not specific; electrophysiological testing: marked loss of photopic function, with scotopic function relatively well preserved; visual field: consistent central scotoma; during the 2d and 3d decades visual acuity decreased dramatically, color-vision defect confined to achromatopsia"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299130"	"04214"	"00406679"	"00000"	"Familial, autosomal dominant"	""	"decreased vision acuity, with severe color dyschromatopsia and photophobia during the 1st decade of life; at this stage ophthalmoscopical examinations not specific; electrophysiological testing: marked loss of photopic function, with scotopic function relatively well preserved; visual field: consistent central scotoma; during the 2d and 3d decades visual acuity decreased dramatically, color-vision defect confined to achromatopsia"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299132"	"04214"	"00406681"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299133"	"04214"	"00406682"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299134"	"04214"	"00406683"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299135"	"04214"	"00406684"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299136"	"04214"	"00406685"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299137"	"04214"	"00406686"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299138"	"04214"	"00406687"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299139"	"04214"	"00406688"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299140"	"04214"	"00406689"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299141"	"04214"	"00406690"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299142"	"04214"	"00406691"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299143"	"04214"	"00406692"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299144"	"04214"	"00406693"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299145"	"04214"	"00406694"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299146"	"04214"	"00406695"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299147"	"04214"	"00406696"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299148"	"04214"	"00406697"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299149"	"04214"	"00406698"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299150"	"04214"	"00406699"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299151"	"04214"	"00406700"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299152"	"04214"	"00406701"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299153"	"04214"	"00406702"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299154"	"04214"	"00406703"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299155"	"04214"	"00406704"	"00000"	"Familial, autosomal recessive"	""	"onset at birth, inability to follow light or objects, roving eye movements, pendular nystagmus, normal fundus at birth followed by salt-and-pepper aspect of the retina and typical aspect of retinitis pigmentosa, non-recordable electroretinograms, severe hyperopia and severe photophobia, non-recordable visual field and non-evolutive congenital blindness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299156"	"04214"	"00406705"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299157"	"04214"	"00406706"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299158"	"04214"	"00406707"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299159"	"04214"	"00406708"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299160"	"04214"	"00406709"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299161"	"04214"	"00406710"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299162"	"04214"	"00406711"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299163"	"04214"	"00406712"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299164"	"04214"	"00406713"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299165"	"04214"	"00406714"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299166"	"04214"	"00406715"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299167"	"04214"	"00406716"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299168"	"04214"	"00406717"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299169"	"04214"	"00406718"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299170"	"04214"	"00406719"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299171"	"04214"	"00406720"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299172"	"04214"	"00406721"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299173"	"04214"	"00406722"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299174"	"04214"	"00406723"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299175"	"04214"	"00406724"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299176"	"04214"	"00406725"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299177"	"04214"	"00406726"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299178"	"04214"	"00406727"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299179"	"04214"	"00406728"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299180"	"04214"	"00406729"	"00000"	"Familial, autosomal dominant"	""	"early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299191"	"04214"	"00406741"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299192"	"04214"	"00406742"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299193"	"04214"	"00406743"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299194"	"04214"	"00406744"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299195"	"04214"	"00406745"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299196"	"04214"	"00406746"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299197"	"04214"	"00406747"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299198"	"04214"	"00406748"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299199"	"04214"	"00406749"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299200"	"04214"	"00406750"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299201"	"04214"	"00406751"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299202"	"04214"	"00406752"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299203"	"04214"	"00406753"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299204"	"04214"	"00406754"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299205"	"04214"	"00406755"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299206"	"04214"	"00406756"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299207"	"04214"	"00406757"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299208"	"04214"	"00406758"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299209"	"04214"	"00406759"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299210"	"04214"	"00406760"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299211"	"04214"	"00406761"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299212"	"04214"	"00406762"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299213"	"04214"	"00406763"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299214"	"04214"	"00406764"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299215"	"04214"	"00406765"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299216"	"04214"	"00406766"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299217"	"04214"	"00406767"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299218"	"04214"	"00406768"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299219"	"04214"	"00406769"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299220"	"04214"	"00406770"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299221"	"04214"	"00406771"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299222"	"04214"	"00406772"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299223"	"04214"	"00406773"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299224"	"04214"	"00406774"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299225"	"04214"	"00406775"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299226"	"04214"	"00406776"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299227"	"04214"	"00406777"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299228"	"04214"	"00406778"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299229"	"04214"	"00406779"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299230"	"04214"	"00406780"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299231"	"04214"	"00406781"	"00000"	"Familial, autosomal dominant"	""	"almost asymptomatic, initially missed"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299232"	"04214"	"00406782"	"00000"	"Familial, autosomal dominant"	""	"almost asymptomatic, initially missed"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299233"	"04214"	"00406783"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299234"	"04214"	"00406784"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299235"	"04214"	"00406785"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299236"	"04214"	"00406786"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299237"	"04214"	"00406787"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299238"	"04214"	"00406788"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299239"	"04214"	"00406789"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299240"	"04214"	"00406790"	"00000"	"Familial, autosomal dominant"	"73y"	"best corrected visual acuity right/left eye: 1/60 / 1/60, electroretinography right/left eye: blue single flash amplitude (uV): 60 / 50, red single flash amplitude (uV): 0 / 0, white single flash amplitude (uV): 90 / 70, 30 Hz flicker white amplitude (uV): 0 / 0"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299241"	"04214"	"00406791"	"00000"	"Familial, autosomal dominant"	"66y"	"best corrected visual acuity right/left eye: 1/60 / 1/60, electroretinography right/left eye: blue single flash amplitude (uV): 60 / 40, red single flash amplitude (uV): 0 / 0, white single flash amplitude (uV): 80 / 60, 30 Hz flicker white amplitude (uV): 4 / 2"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299242"	"04214"	"00406792"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right/left eye: 3/60 / 4/60, electroretinography right/left eye: blue single flash amplitude (uV): 110 / 100, red single flash amplitude (uV): 0 / 0, white single flash amplitude (uV): 140 / 160, 30 Hz flicker white amplitude (uV): 9 / 11"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299243"	"04214"	"00406793"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right/left eye: 6/60 / 6/60, electroretinography right/left eye: blue single flash amplitude (uV): 50 / 40, red single flash amplitude (uV): 10 / 0, white single flash amplitude (uV): 90 / 90, 30 Hz flicker white amplitude (uV): 0 / 0"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299244"	"04214"	"00406794"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right/left eye: 2/60 / 6/60, electroretinography right/left eye: blue single flash amplitude (uV): 200 / 140, red single flash amplitude (uV): 90 / 100, white single flash amplitude (uV): 240 / 380, 30 Hz flicker white amplitude (uV): 39 / 38"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299245"	"04214"	"00406795"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right/left eye: 6/60 / 6/60, electroretinography right/left eye: blue single flash amplitude (uV): 110 / 160, red single flash amplitude (uV): 0 / 90, white single flash amplitude (uV): 160 / 230, 30 Hz flicker white amplitude (uV): 10 / 13"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299246"	"04214"	"00406796"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right/left eye: 6/6 / 6/6, electroretinography right/left eye: blue single flash amplitude (uV): 80 / 90, red single flash amplitude (uV): 30 / 0, white single flash amplitude (uV): 120 / 160, 30 Hz flicker white amplitude (uV): 12 / 13"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299247"	"04214"	"00406797"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right/left eye: 6/60 / 6/60, electroretinography right/left eye: blue single flash amplitude (uV): 30 / 70, red single flash amplitude (uV): 0 / 0, white single flash amplitude (uV): 100 / 90, 30 Hz flicker white amplitude (uV): 5 / 6"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299248"	"04214"	"00406798"	"00000"	"Familial, autosomal dominant"	"43y"	"best corrected visual acuity right/left eye: 6/60 / 2/60, electroretinography right/left eye: blue single flash amplitude (uV): 30 / 30, red single flash amplitude (uV): 0 / 0, white single flash amplitude (uV): 40 / 50, 30 Hz flicker white amplitude (uV): 0 / 0"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299249"	"04214"	"00406799"	"00000"	"Familial, autosomal dominant"	"21y"	"best corrected visual acuity right/left eye: 6/20 / 6/15, electroretinography right/left eye: blue single flash amplitude (uV): 120 / 160, red single flash amplitude (uV): 0 / 0, white single flash amplitude (uV): 230 / 270, 30 Hz flicker white amplitude (uV): 25 / 14"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299250"	"04214"	"00406800"	"00000"	"Familial, autosomal dominant"	"11y"	"best corrected visual acuity right eye (left not obtained): 6/30, electroretinography right/left eye: blue single flash amplitude (uV): 70, red single flash amplitude (uV): 20, white single flash amplitude (uV): 120, 30 Hz flicker white amplitude (uV): 23"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000299273"	"04214"	"00406823"	"00000"	"Familial, autosomal recessive"	"11y"	"no photophobia, night blindness , visual acuity: 20/150, refraction in DS.: 1, electroretinogram: flat, non-progressive, minimal nystagmus, pallor of disc, distinct bull�s-eye-like lesion in macula; mottling of retinal architecture"	"5y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299274"	"04214"	"00406824"	"00000"	"Familial, autosomal recessive"	"3y"	"no photophobia, no night blindness, visual acuity: fixation, refraction in DS.: 1, non-progressive, , normal disc and macula; pigmentary mottling of retina"	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299275"	"04214"	"00406825"	"00000"	"Familial, autosomal recessive"	"3y"	"no photophobia, no night blindness, visual acuity: fixation, refraction in DS.: 2, normal retina, disc, and macula"	"3m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299276"	"04214"	"00406826"	"00000"	"Familial, autosomal recessive"	"12y"	"no photophobia, no night blindness, visual acuity: 20/400, refraction in DS.: 1, electroretinogram: flat, non-progressive, exotropia, dissociated vertical deviation, normal disc and macula; attenuated blood vessels and mild pigmentary stippling of retina"	"2m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299277"	"04214"	"00406827"	"00000"	"Familial, autosomal recessive"	"25y"	"no photophobia, no night blindness, visual acuity: light perception, refraction in DS.: 5,5, electroretinogram: flat, non-progressive, esotropia, normal disc and macula and attenuated blood vessels"	"1y6m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299278"	"04214"	"00406828"	"00000"	"Familial, autosomal recessive"	"3y"	"no photophobia, no night blindness, visual acuity: fixation, refraction in DS.: 5, normal retina, disc, and macula"	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300521"	"04214"	"00408405"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300522"	"04214"	"00408406"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300523"	"04214"	"00408407"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300524"	"04214"	"00408408"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300525"	"04214"	"00408409"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300526"	"04214"	"00408410"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300527"	"04214"	"00408411"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000306312"	"00198"	"00414477"	"00000"	"Unknown"	"51y"	"Choroideremia;Cone-Rod Dystrophy 6"	""	""	""	""	""	""	""	""	""	""	""
"0000309932"	"00128"	"00418596"	"00006"	"Familial, autosomal recessive"	""	"failure to thrive; prominent forehead, upslanting palpebral fissures, thin upper lips; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, pneumonia, hyperactive airway disease; no immunological abnormalities; acute gastroenteritis , vomiting, severe gastroesophag eal reflux, chronic diarrhea; no cardiovascular abnormalities"	"1d"	""	""	""	""	""	""	""	""	"cystic fibrosis"	""
"0000310846"	"00198"	"00419565"	"02300"	"Familial, autosomal recessive"	"23y"	""	""	""	""	""	""	""	""	""	""	"ocular/auditory abnormality"	""
"0000311756"	"04214"	"00420508"	"00000"	"Familial, autosomal dominant"	"47y4m"	""	"6y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000311799"	"04214"	"00420551"	"00000"	"Familial, autosomal dominant"	"46y6m"	""	"35y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000311825"	"04214"	"00420577"	"00000"	"Familial, autosomal dominant"	"34y10m"	""	"22y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000320567"	"04210"	"00429695"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320690"	"04214"	"00429818"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320735"	"04210"	"00429863"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320744"	"04214"	"00429872"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320829"	"00112"	"00429957"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320962"	"04210"	"00430090"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000333543"	"04214"	"00444290"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis,"	""
"0000336254"	"00198"	"00447055"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000336266"	"00198"	"00447067"	"00006"	"Familial, X-linked dominant"	""	""	""	""	""	""	""	""	""	""	""	"choroideraemia"	""
"0000336285"	"00198"	"00447086"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000336287"	"00198"	"00447088"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000336460"	"00198"	"00447261"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336519"	"00198"	"00447320"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336541"	"00198"	"00447342"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000336584"	"00198"	"00447385"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000336592"	"00198"	"00447393"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000336671"	"00198"	"00447472"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, X-linked"	""
"0000336717"	"00198"	"00447518"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336753"	"00198"	"00447554"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000336776"	"00198"	"00447577"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"optic atrophy"	""
"0000336878"	"00198"	"00447679"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000337196"	"04214"	"00448007"	"00006"	"Familial, autosomal recessive"	"55y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339906"	"04249"	"00450851"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339907"	"04249"	"00450852"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339908"	"04249"	"00450853"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339909"	"04249"	"00450854"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339910"	"04249"	"00450855"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy (AD)"	""
"0000339911"	"04249"	"00450856"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339912"	"04249"	"00450857"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339913"	"04249"	"00450858"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339914"	"04249"	"00450859"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000339915"	"04249"	"00450860"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339916"	"04249"	"00450861"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339917"	"04249"	"00450862"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339986"	"04249"	"00450931"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000348567"	"04214"	"00461067"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000348586"	"04214"	"00461086"	"00006"	"Familial, autosomal recessive"	""	""	"0y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000355133"	"04210"	"00469988"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., Leber congenital amaurosis, no vision in light"	""	""	""	""	""	""	""	""	"LCA1"	"Leber congenital amaurosis"	""


## Screenings ## Do not remove or alter this header ##
## Count = 824
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000016562"	"00016609"	"1"	"00552"	"00552"	"2014-05-23 13:34:45"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033166"	"00033098"	"1"	"00229"	"00229"	"2012-02-04 16:03:38"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033172"	"00033104"	"1"	"00229"	"00229"	"2012-02-13 21:46:30"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033191"	"00033123"	"1"	"00229"	"00229"	"2012-02-13 09:17:22"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033198"	"00033130"	"1"	"00229"	"00229"	"2012-02-04 14:23:49"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033200"	"00033132"	"1"	"00229"	"00229"	"2012-02-04 14:23:49"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033206"	"00033138"	"1"	"00229"	"00229"	"2012-02-04 15:20:01"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033207"	"00033139"	"1"	"00229"	"00229"	"2012-02-28 21:32:07"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033209"	"00033141"	"1"	"00229"	"00229"	"2012-02-04 15:42:15"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033218"	"00033150"	"1"	"00229"	"00229"	"2012-02-28 21:32:07"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033219"	"00033151"	"1"	"00229"	"00229"	"2012-02-28 21:32:07"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033220"	"00033152"	"1"	"00229"	"00229"	"2012-02-04 14:23:49"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033222"	"00033154"	"1"	"00229"	"00229"	"2012-02-13 09:10:17"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033228"	"00033160"	"1"	"00229"	"00229"	"2012-02-28 21:32:07"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033231"	"00033163"	"1"	"00229"	"00229"	"2012-02-28 21:32:07"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033235"	"00033167"	"1"	"00229"	"00229"	"2012-02-04 16:03:38"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033237"	"00033169"	"1"	"00229"	"00229"	"2012-02-04 16:03:38"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033684"	"00033616"	"1"	"00243"	"00243"	"2014-01-25 11:19:48"	"00006"	"2014-01-25 14:30:33"	"SEQ"	"DNA"	""	""
"0000033705"	"00033637"	"1"	"01244"	"01244"	"2014-09-05 14:18:24"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033762"	"00033694"	"1"	"00243"	"00243"	"2015-02-18 09:21:51"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033763"	"00033695"	"1"	"00243"	"00243"	"2015-02-18 09:44:01"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033764"	"00033696"	"1"	"00243"	"00243"	"2015-02-18 10:06:17"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033765"	"00033697"	"1"	"00243"	"00243"	"2015-02-18 10:40:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033766"	"00033698"	"1"	"00243"	"00243"	"2015-02-18 10:47:56"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033767"	"00033699"	"1"	"00243"	"00243"	"2015-02-18 11:52:19"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033768"	"00033700"	"1"	"00243"	"00243"	"2015-02-18 12:56:29"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033769"	"00033701"	"1"	"00243"	"00243"	"2015-02-18 13:02:50"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033770"	"00033702"	"1"	"00243"	"00243"	"2015-02-19 06:01:56"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000038283"	"00038052"	"1"	"01251"	"01251"	"2015-05-01 22:00:00"	""	""	"arraySEQ"	"DNA"	""	""
"0000038284"	"00038053"	"1"	"01251"	"01251"	"2015-05-01 22:00:00"	""	""	"arraySEQ"	"DNA"	""	""
"0000038285"	"00038054"	"1"	"01251"	"01251"	"2015-05-01 22:00:00"	""	""	"arraySEQ"	"DNA"	""	""
"0000038300"	"00038069"	"1"	"01251"	"01251"	"2015-05-01 22:00:00"	""	""	"arraySEQ"	"DNA"	""	""
"0000038536"	"00038305"	"1"	"01251"	"01251"	"2015-05-01 22:00:00"	""	""	"SEQ-NG-I;PCR;SEQ"	"DNA"	""	""
"0000052461"	"00052513"	"1"	"01424"	"01424"	"2015-10-26 17:05:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000052894"	"00052946"	"1"	"01424"	"01424"	"2015-10-26 17:05:36"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000078699"	"00078524"	"1"	"00105"	"00105"	"2016-07-17 07:01:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000100472"	"00100069"	"1"	"01769"	"01769"	"2017-01-30 15:24:52"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100476"	"00100073"	"1"	"01769"	"01769"	"2017-01-30 15:43:39"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000105462"	"00104989"	"1"	"01244"	"01244"	"2017-06-14 14:39:54"	""	""	"SEQ-NG-I"	"DNA"	"Whole Blood"	""
"0000156340"	"00155475"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156341"	"00155476"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156342"	"00155477"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156343"	"00155478"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156344"	"00155479"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000208627"	"00207590"	"1"	"01244"	"01244"	"2018-11-26 11:10:16"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208703"	"00207662"	"1"	"01244"	"01244"	"2018-11-27 13:47:50"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208721"	"00207680"	"1"	"01244"	"01244"	"2018-11-27 16:23:40"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208726"	"00207685"	"1"	"01244"	"01244"	"2018-11-28 10:04:05"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000241548"	"00240438"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000241549"	"00240439"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000241550"	"00240440"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000241551"	"00240441"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000270620"	"00269474"	"1"	"03508"	"03508"	"2019-11-28 14:24:21"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270695"	"00269541"	"1"	"03508"	"03508"	"2019-11-29 12:51:33"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270696"	"00269542"	"1"	"03508"	"03508"	"2019-11-29 13:05:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270697"	"00269543"	"1"	"03508"	"03508"	"2019-11-29 13:11:10"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270723"	"00269567"	"1"	"03508"	"03508"	"2019-11-30 07:44:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270724"	"00269568"	"1"	"03508"	"03508"	"2019-11-30 08:29:08"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270725"	"00269569"	"1"	"03508"	"03508"	"2019-11-30 08:39:35"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270726"	"00269570"	"1"	"03508"	"03508"	"2019-11-30 08:43:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270727"	"00269571"	"1"	"03508"	"03508"	"2019-11-30 10:04:14"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270748"	"00269591"	"1"	"03508"	"03508"	"2019-12-01 08:07:47"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000276841"	"00275683"	"1"	"03552"	"03552"	"2020-01-14 09:47:12"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WGS"
"0000293059"	"00291891"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293060"	"00291892"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000304750"	"00303622"	"1"	"00006"	"00006"	"2020-06-17 11:20:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000305741"	"00304612"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309525"	"00308381"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309526"	"00308382"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309527"	"00308383"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309528"	"00308384"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309529"	"00308385"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309657"	"00308512"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309779"	"00308634"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309803"	"00308658"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000309804"	"00308659"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000309897"	"00308752"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000310320"	"00309175"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310321"	"00309176"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310322"	"00309177"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310323"	"00309178"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310324"	"00309179"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310325"	"00309180"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310326"	"00309181"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310327"	"00309182"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310328"	"00309183"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310329"	"00309184"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310330"	"00309185"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310331"	"00309186"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310332"	"00309187"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310333"	"00309188"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310818"	"00309673"	"1"	"00004"	"00006"	"2020-08-31 19:33:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310819"	"00309674"	"1"	"00004"	"00006"	"2020-08-31 19:33:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310820"	"00309675"	"1"	"00004"	"00006"	"2020-08-31 19:33:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310821"	"00309676"	"1"	"00004"	"00006"	"2020-08-31 19:33:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310822"	"00309677"	"1"	"00004"	"00006"	"2020-08-31 19:33:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310823"	"00309678"	"1"	"00004"	"00006"	"2020-08-31 19:33:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310824"	"00309679"	"1"	"00004"	"00006"	"2020-08-31 19:33:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000326642"	"00325431"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326644"	"00325433"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326646"	"00325435"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326688"	"00325477"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326723"	"00325512"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329152"	"00327937"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329220"	"00328005"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329258"	"00328043"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329290"	"00328075"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329676"	"00328461"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000329705"	"00328490"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000332499"	"00331279"	"1"	"00000"	"00006"	"2021-02-11 10:36:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000333152"	"00331933"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333247"	"00332028"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333248"	"00332029"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333249"	"00332030"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333250"	"00332031"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333251"	"00332032"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333252"	"00332033"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333419"	"00332199"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333445"	"00332225"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333483"	"00332263"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000333584"	"00332361"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333585"	"00332362"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333586"	"00332363"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333587"	"00332364"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333588"	"00332365"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333604"	"00332380"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333605"	"00332381"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333606"	"00332382"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333607"	"00332383"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333608"	"00332384"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333686"	"00332462"	"1"	"00000"	"00006"	"2021-02-19 15:15:03"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000333696"	"00332472"	"1"	"00000"	"00006"	"2021-02-19 15:15:03"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000333720"	"00332496"	"1"	"00000"	"00006"	"2021-02-19 16:33:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333721"	"00332497"	"1"	"00000"	"00006"	"2021-02-19 16:33:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334584"	"00333359"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334590"	"00333365"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334615"	"00333390"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334628"	"00333403"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334647"	"00333422"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334811"	"00333585"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334857"	"00333631"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334858"	"00333632"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335151"	"00333925"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335790"	"00334561"	"1"	"00000"	"00006"	"2021-03-01 15:50:09"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336346"	"00335117"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336347"	"00335118"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336348"	"00335119"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336349"	"00335120"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336350"	"00335121"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336351"	"00335122"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336443"	"00335214"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000336444"	"00335215"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000336505"	"00335276"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336533"	"00335304"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336534"	"00335305"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336820"	"00335592"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	"blood"	""
"0000336823"	"00335595"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	"blood"	""
"0000336824"	"00335596"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	"blood"	""
"0000336825"	"00335597"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	"blood"	""
"0000336826"	"00335598"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336827"	"00335599"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336828"	"00335600"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336829"	"00335601"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336830"	"00335602"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336839"	"00335611"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336840"	"00335612"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336841"	"00335613"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000336851"	"00335623"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	""	""
"0000336852"	"00335624"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	""	""
"0000336853"	"00335625"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	""	""
"0000336854"	"00335626"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	""	""
"0000336855"	"00335627"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	""	""
"0000336856"	"00335628"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	""	""
"0000337206"	"00335976"	"1"	"00000"	"00006"	"2021-03-10 17:05:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360131"	"00358898"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360132"	"00358899"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360133"	"00358900"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360134"	"00358901"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360135"	"00358902"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360136"	"00358903"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360238"	"00359001"	"1"	"00006"	"00006"	"2021-03-18 13:35:02"	""	""	"arraySEQ;SEQ"	"DNA"	""	""
"0000360246"	"00359008"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360247"	"00359009"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360253"	"00359015"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360292"	"00359054"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360295"	"00359057"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360300"	"00359062"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360310"	"00359072"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360326"	"00359088"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360338"	"00359100"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360339"	"00359101"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360422"	"00359184"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363297"	"00362068"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000363298"	"00362069"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ"	"DNA"	""	""
"0000363299"	"00362070"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363300"	"00362071"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363301"	"00362072"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ"	"DNA"	""	""
"0000363389"	"00362160"	"1"	"00000"	"00006"	"2021-04-15 15:27:01"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000363416"	"00362187"	"1"	"00000"	"00006"	"2021-04-15 17:02:42"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364132"	"00362904"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364575"	"00363347"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364802"	"00363574"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364872"	"00363644"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364947"	"00363719"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364961"	"00363733"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373297"	"00372069"	"1"	"00000"	"00006"	"2021-05-06 19:05:11"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000373645"	"00372412"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373646"	"00372413"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373667"	"00372434"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373668"	"00372435"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373669"	"00372436"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373670"	"00372437"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373704"	"00372471"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373705"	"00372472"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373706"	"00372473"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373707"	"00372474"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373708"	"00372475"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373709"	"00372476"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373710"	"00372477"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373722"	"00372489"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374597"	"00373362"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000374642"	"00373407"	"1"	"00000"	"00006"	"2021-05-14 15:17:31"	""	""	"SEQ"	"DNA"	""	""
"0000376181"	"00374987"	"1"	"00006"	"00006"	"2021-05-27 18:31:08"	""	""	"SEQ"	"DNA"	""	""
"0000376637"	"00375440"	"1"	"00000"	"00006"	"2021-06-04 11:16:10"	""	""	"SEQ-NG"	"DNA"	""	"162-gene panel"
"0000376657"	"00375460"	"1"	"00000"	"00006"	"2021-06-04 12:05:48"	""	""	"SEQ-NG"	"DNA"	""	"14-gene panel"
"0000376659"	"00375462"	"1"	"00000"	"00006"	"2021-06-04 12:05:48"	""	""	"SEQ-NG"	"DNA"	""	"14-gene panel"
"0000376660"	"00375463"	"1"	"00000"	"00006"	"2021-06-04 12:05:48"	""	""	"SEQ-NG"	"DNA"	""	"14-gene panel"
"0000376663"	"00375466"	"1"	"00000"	"00006"	"2021-06-04 12:05:48"	""	""	"SEQ-NG"	"DNA"	""	"14-gene panel"
"0000376668"	"00375471"	"1"	"00000"	"00006"	"2021-06-04 12:05:48"	""	""	"SEQ-NG"	"DNA"	""	"14-gene panel"
"0000376703"	"00375506"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376704"	"00375507"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376705"	"00375508"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376706"	"00375509"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376707"	"00375510"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376708"	"00375511"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000377474"	"00376278"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377475"	"00376279"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377476"	"00376280"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377477"	"00376281"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377478"	"00376282"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377479"	"00376283"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377480"	"00376284"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377670"	"00376465"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000377671"	"00376466"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000377672"	"00376467"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000377675"	"00376470"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000377679"	"00376474"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000377923"	"00376717"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377924"	"00376718"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377925"	"00376719"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377929"	"00376723"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377930"	"00376724"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377931"	"00376725"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377932"	"00376726"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377933"	"00376727"	"1"	"00000"	"00008"	"2021-06-25 10:31:56"	""	""	"arraySEQ"	"DNA"	""	""
"0000377969"	"00376763"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378016"	"00376811"	"1"	"00000"	"00006"	"2021-06-25 15:49:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378023"	"00376818"	"1"	"00000"	"00006"	"2021-06-25 15:49:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378383"	"00377178"	"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"
"0000378387"	"00377182"	"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"
"0000378388"	"00377183"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378389"	"00377184"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378390"	"00377185"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378391"	"00377186"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378444"	"00377239"	"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"
"0000378445"	"00377240"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378725"	"00377522"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ;MLPA"	"DNA"	"blood"	"Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencingmultiplex ligation-dependent probe amplification analysis"
"0000378734"	"00377531"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378745"	"00377542"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378746"	"00377543"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378925"	"00377721"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"Lymphoblast"	""
"0000379078"	"00377874"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379079"	"00377875"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379080"	"00377876"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379081"	"00377877"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379082"	"00377878"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379083"	"00377879"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379084"	"00377880"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379092"	"00377888"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379093"	"00377889"	"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"	""
"0000379109"	"00377905"	"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"	""
"0000379113"	"00377909"	"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"	""
"0000379159"	"00377955"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000379160"	"00377956"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000380881"	"00379680"	"1"	"03508"	"03508"	"2021-08-06 10:02:54"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381043"	"00379841"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"exome sequencing"
"0000382220"	"00381006"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ-NG;SEQp"	"DNA"	"blood"	"targeted exon capture/IROme assay"
"0000382240"	"00381026"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382242"	"00381028"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382243"	"00381029"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382254"	"00381040"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382255"	"00381041"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382258"	"00381044"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382264"	"00381050"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382298"	"00381084"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"arraySNP;SEQ;PCR"	"DNA"	"blood"	""
"0000382361"	"00381146"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	"Asper chip analysis"
"0000382367"	"00381152"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	"Asper chip analysis"
"0000382368"	"00381153"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	"Asper chip analysis"
"0000382402"	"00381187"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382403"	"00381188"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382404"	"00381189"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382423"	"00381208"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382436"	"00381221"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382437"	"00381222"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382438"	"00381223"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382439"	"00381224"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382841"	"00381625"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382844"	"00381628"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382849"	"00381633"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382850"	"00381634"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382881"	"00381665"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382886"	"00381670"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382888"	"00381672"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383351"	"00382135"	"1"	"00000"	"03840"	"2021-09-07 10:12:12"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000383527"	"00382313"	"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"
"0000383528"	"00382314"	"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"
"0000383529"	"00382315"	"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"
"0000383765"	"00382551"	"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"
"0000384015"	"00382799"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"arraySEQ;PCR"	"DNA"	"blood"	""
"0000384729"	"00383504"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000384730"	"00383505"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000385078"	"00383853"	"1"	"00000"	"03840"	"2021-09-29 12:47:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"105 retinal dystrophy-associated genes"
"0000385079"	"00383854"	"1"	"00000"	"03840"	"2021-09-29 12:47:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"105 retinal dystrophy-associated genes"
"0000385416"	"00384191"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385421"	"00384196"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385462"	"00384237"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385627"	"00384402"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385789"	"00384564"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385790"	"00384565"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385791"	"00384566"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385792"	"00384567"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385793"	"00384568"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000385794"	"00384569"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000385795"	"00384570"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000385796"	"00384571"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385861"	"00384633"	"1"	"00000"	"03840"	"2021-10-04 12:47:36"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000386223"	"00384994"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386271"	"00385042"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386288"	"00385059"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386293"	"00385064"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted next-generation sequencing/Sanger sequencing"
"0000386300"	"00385071"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ"	"DNA"	""	"Sanger sequencing"
"0000386301"	"00385072"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386306"	"00385077"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386308"	"00385079"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386856"	"00385627"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000387076"	"00385848"	"1"	"00000"	"03840"	"2021-10-15 23:06:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"after negative whole exome sequencing whole genome sequencing"
"0000387190"	"00385962"	"1"	"00000"	"00008"	"2021-10-19 12:24:34"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000387399"	"00386170"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387527"	"00386298"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000388883"	"00387657"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000389395"	"00388156"	"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"
"0000389396"	"00388157"	"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"
"0000389397"	"00388158"	"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"
"0000389398"	"00388159"	"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"
"0000389399"	"00388160"	"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"
"0000389400"	"00388161"	"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"
"0000389401"	"00388162"	"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"
"0000389402"	"00388163"	"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"
"0000389403"	"00388164"	"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"
"0000389422"	"00388183"	"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"
"0000390155"	"00388912"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390156"	"00388913"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390157"	"00388914"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390158"	"00388915"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390159"	"00388916"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390313"	"00389070"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390314"	"00389071"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390315"	"00389072"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390479"	"00389236"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000390858"	"00389615"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390859"	"00389616"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390941"	"00389698"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000391519"	"00390278"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391520"	"00390279"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391978"	"00390737"	"1"	"00000"	"03840"	"2021-11-11 19:27:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"targeted (panel) next generation sequencing - IROme"
"0000392005"	"00390764"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392048"	"00390807"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392080"	"00390839"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392212"	"00390971"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392407"	"00391165"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392408"	"00391166"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392409"	"00391167"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392410"	"00391168"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392411"	"00391169"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392412"	"00391170"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392587"	"00391345"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000392818"	"00391576"	"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"
"0000392882"	"00391641"	"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"
"0000392883"	"00391642"	"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"
"0000392884"	"00391643"	"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"
"0000392885"	"00391644"	"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"
"0000392886"	"00391645"	"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"
"0000392887"	"00391646"	"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"
"0000392888"	"00391647"	"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"
"0000392889"	"00391648"	"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"
"0000392890"	"00391649"	"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"
"0000392891"	"00391650"	"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"
"0000392892"	"00391651"	"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"
"0000392969"	"00391728"	"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"
"0000393808"	"00392561"	"1"	"00000"	"03840"	"2021-11-23 11:29:41"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 137 genes associated with retinal dystrophies"
"0000393813"	"00392566"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000394729"	"00393481"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000394878"	"00393630"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000397125"	"00395886"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397153"	"00395914"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397177"	"00395938"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397456"	"00396215"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000397460"	"00396219"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397463"	"00396222"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397466"	"00396225"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397797"	"00396554"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000407235"	"00405994"	"1"	"00000"	"00008"	"2022-03-25 07:05:25"	""	""	"?"	"DNA"	""	"microarray chip"
"0000407236"	"00405995"	"1"	"00000"	"00008"	"2022-03-25 07:05:25"	""	""	"?"	"DNA"	""	"microarray chip"
"0000407237"	"00405996"	"1"	"00000"	"00008"	"2022-03-25 07:05:25"	""	""	"?"	"DNA"	""	"microarray chip"
"0000407238"	"00405997"	"1"	"00000"	"00008"	"2022-03-25 07:05:25"	""	""	"?"	"DNA"	""	"microarray chip"
"0000407239"	"00405998"	"1"	"00000"	"00008"	"2022-03-25 07:05:25"	""	""	"?"	"DNA"	""	"microarray chip"
"0000407240"	"00405999"	"1"	"00000"	"00008"	"2022-03-25 07:05:25"	""	""	"?"	"DNA"	""	"microarray chip"
"0000407478"	"00406237"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407479"	"00406238"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407480"	"00406239"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407481"	"00406240"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407482"	"00406241"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407483"	"00406242"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407484"	"00406243"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407485"	"00406244"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407486"	"00406245"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407487"	"00406246"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407488"	"00406247"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407489"	"00406248"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407490"	"00406249"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407491"	"00406250"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407492"	"00406251"	"1"	"00000"	"03840"	"2022-03-26 15:11:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407493"	"00406252"	"1"	"00000"	"03840"	"2022-03-26 16:10:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407494"	"00406253"	"1"	"00000"	"03840"	"2022-03-26 16:10:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407495"	"00406254"	"1"	"00000"	"03840"	"2022-03-26 16:10:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407496"	"00406255"	"1"	"00000"	"03840"	"2022-03-26 17:32:36"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"APEX and Sanger"
"0000407497"	"00406256"	"1"	"00000"	"03840"	"2022-03-26 19:01:18"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407498"	"00406257"	"1"	"00000"	"03840"	"2022-03-26 19:01:18"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000407499"	"00406258"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407500"	"00406259"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407501"	"00406260"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407502"	"00406261"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407503"	"00406262"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407504"	"00406263"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407505"	"00406264"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407506"	"00406265"	"1"	"00000"	"03840"	"2022-03-27 08:58:08"	""	""	"SEQ"	"DNA"	"?"	"whole-exome sequencing"
"0000407507"	"00406266"	"1"	"00000"	"03840"	"2022-03-27 12:14:13"	""	""	"?"	"DNA"	""	""
"0000407508"	"00406267"	"1"	"00000"	"03840"	"2022-03-27 12:14:13"	""	""	"?"	"DNA"	""	""
"0000407509"	"00406268"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407510"	"00406269"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407511"	"00406270"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407512"	"00406271"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407513"	"00406272"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407514"	"00406273"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407515"	"00406274"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407516"	"00406275"	"1"	"00000"	"03840"	"2022-03-27 12:42:32"	""	""	"?"	"DNA"	""	""
"0000407517"	"00406276"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407518"	"00406277"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407519"	"00406278"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407520"	"00406279"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407521"	"00406280"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407522"	"00406281"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407523"	"00406282"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407524"	"00406283"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407525"	"00406284"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407526"	"00406285"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407527"	"00406286"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407528"	"00406287"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407529"	"00406288"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407530"	"00406289"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407531"	"00406290"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407532"	"00406291"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407533"	"00406292"	"1"	"00000"	"03840"	"2022-03-27 15:44:55"	""	""	"?"	"DNA"	""	""
"0000407534"	"00406293"	"1"	"00000"	"03840"	"2022-03-27 17:09:16"	""	""	"arraySNP;STR;SEQ"	"DNA"	""	""
"0000407535"	"00406294"	"1"	"00000"	"03840"	"2022-03-27 17:09:16"	""	""	"arraySNP;STR;SEQ"	"DNA"	""	""
"0000407536"	"00406295"	"1"	"00000"	"03840"	"2022-03-27 17:09:16"	""	""	"arraySNP;STR;SEQ"	"DNA"	""	""
"0000407537"	"00406296"	"1"	"00000"	"03840"	"2022-03-27 17:09:16"	""	""	"arraySNP;STR;SEQ"	"DNA"	""	""
"0000407542"	"00406301"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407543"	"00406302"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407544"	"00406303"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407545"	"00406304"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407546"	"00406305"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407547"	"00406306"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407548"	"00406307"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407549"	"00406308"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407550"	"00406309"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407551"	"00406310"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407554"	"00406313"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407555"	"00406314"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407556"	"00406315"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407557"	"00406316"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407558"	"00406317"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407559"	"00406318"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407560"	"00406319"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407561"	"00406320"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407562"	"00406321"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407563"	"00406322"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407564"	"00406323"	"1"	"00000"	"03840"	"2022-03-28 12:26:21"	""	""	"?"	"DNA"	""	""
"0000407579"	"00406337"	"1"	"00000"	"03840"	"2022-03-28 19:16:38"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407580"	"00406338"	"1"	"00000"	"03840"	"2022-03-28 19:16:38"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407581"	"00406339"	"1"	"00000"	"03840"	"2022-03-28 19:16:38"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407582"	"00406340"	"1"	"00000"	"03840"	"2022-03-28 19:44:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407583"	"00406341"	"1"	"00000"	"03840"	"2022-03-28 19:44:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407584"	"00406342"	"1"	"00000"	"03840"	"2022-03-28 19:44:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407585"	"00406343"	"1"	"00000"	"03840"	"2022-03-28 20:09:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407586"	"00406344"	"1"	"00000"	"03840"	"2022-03-28 20:09:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407587"	"00406345"	"1"	"00000"	"03840"	"2022-03-28 20:09:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407588"	"00406346"	"1"	"00000"	"03840"	"2022-03-28 20:09:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407589"	"00406347"	"1"	"00000"	"03840"	"2022-03-28 20:09:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407590"	"00406348"	"1"	"00000"	"03840"	"2022-03-28 20:09:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407591"	"00406349"	"1"	"00000"	"03840"	"2022-03-28 20:09:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407592"	"00406350"	"1"	"00000"	"03840"	"2022-03-28 22:18:51"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing of linkage region"
"0000407593"	"00406351"	"1"	"00000"	"03840"	"2022-03-28 22:18:51"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing of linkage region"
"0000407606"	"00406364"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407607"	"00406365"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407608"	"00406366"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407609"	"00406367"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407610"	"00406368"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407611"	"00406369"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407612"	"00406370"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407613"	"00406371"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407614"	"00406372"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407615"	"00406373"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407616"	"00406374"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407617"	"00406375"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407619"	"00406377"	"1"	"00000"	"03840"	"2022-03-29 15:17:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407620"	"00406378"	"1"	"00000"	"03840"	"2022-03-29 15:17:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407621"	"00406379"	"1"	"00000"	"03840"	"2022-03-29 15:17:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407622"	"00406380"	"1"	"00000"	"03840"	"2022-03-29 15:17:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407623"	"00406381"	"1"	"00000"	"03840"	"2022-03-29 15:17:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407624"	"00406382"	"1"	"00000"	"03840"	"2022-03-29 15:17:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407625"	"00406383"	"1"	"00000"	"03840"	"2022-03-29 15:17:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407626"	"00406384"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407627"	"00406385"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407628"	"00406386"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407629"	"00406387"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407630"	"00406388"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407631"	"00406389"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407632"	"00406390"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407670"	"00406428"	"1"	"00000"	"03840"	"2022-03-29 21:24:07"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000407671"	"00406429"	"1"	"00000"	"03840"	"2022-03-29 21:24:07"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000407672"	"00406430"	"1"	"00000"	"03840"	"2022-03-29 21:24:07"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000407673"	"00406431"	"1"	"00000"	"03840"	"2022-03-29 21:24:07"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000407674"	"00406432"	"1"	"00000"	"03840"	"2022-03-29 21:24:07"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000407675"	"00406433"	"1"	"00000"	"03840"	"2022-03-29 21:24:07"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000407679"	"00406437"	"1"	"00000"	"03840"	"2022-03-30 13:25:49"	""	""	"?"	"DNA"	""	""
"0000407681"	"00406439"	"1"	"00000"	"03840"	"2022-03-30 14:10:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407682"	"00406440"	"1"	"00000"	"03840"	"2022-03-30 14:10:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407683"	"00406441"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407684"	"00406442"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407685"	"00406443"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407705"	"00406462"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407706"	"00406463"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407707"	"00406464"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407708"	"00406465"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407709"	"00406466"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407710"	"00406467"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407711"	"00406468"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407712"	"00406469"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407713"	"00406470"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407714"	"00406471"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407715"	"00406472"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407716"	"00406473"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407717"	"00406474"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407718"	"00406475"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407719"	"00406476"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407720"	"00406477"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407721"	"00406478"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407722"	"00406479"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407723"	"00406480"	"1"	"00000"	"03840"	"2022-03-31 09:55:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407724"	"00406481"	"1"	"00000"	"03840"	"2022-03-31 10:08:02"	""	""	"?"	"DNA"	""	""
"0000407738"	"00406495"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407739"	"00406496"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407740"	"00406497"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407741"	"00406498"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407742"	"00406499"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407743"	"00406500"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407744"	"00406501"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407745"	"00406502"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407746"	"00406503"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407747"	"00406504"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407748"	"00406505"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407749"	"00406506"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407750"	"00406507"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407751"	"00406508"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407752"	"00406509"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407753"	"00406510"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407754"	"00406511"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407755"	"00406512"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407756"	"00406513"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407757"	"00406514"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407758"	"00406515"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407759"	"00406516"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407760"	"00406517"	"1"	"00000"	"03840"	"2022-03-31 13:21:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407761"	"00406518"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407762"	"00406519"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407763"	"00406520"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407764"	"00406521"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407765"	"00406522"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407766"	"00406523"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407767"	"00406524"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407768"	"00406525"	"1"	"00000"	"03840"	"2022-03-31 18:15:32"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407769"	"00406526"	"1"	"00000"	"03840"	"2022-03-31 19:17:06"	""	""	"?"	"DNA"	""	""
"0000407821"	"00406578"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407822"	"00406579"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407823"	"00406580"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407824"	"00406581"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407825"	"00406582"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407826"	"00406583"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407827"	"00406584"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000407850"	"00406607"	"1"	"00000"	"03840"	"2022-04-01 19:40:46"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"APEX-based genotyping microarrays"
"0000407855"	"00406612"	"1"	"00000"	"03840"	"2022-04-01 23:44:58"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000407856"	"00406613"	"1"	"00000"	"03840"	"2022-04-01 23:44:58"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000407857"	"00406614"	"1"	"00000"	"03840"	"2022-04-01 23:44:58"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000407858"	"00406615"	"1"	"00000"	"03840"	"2022-04-01 23:46:35"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"APEX-based genotyping microarrays"
"0000407860"	"00406617"	"1"	"00000"	"03840"	"2022-04-02 19:20:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407861"	"00406618"	"1"	"00000"	"03840"	"2022-04-02 19:20:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407862"	"00406619"	"1"	"00000"	"03840"	"2022-04-02 19:20:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407863"	"00406620"	"1"	"00000"	"03840"	"2022-04-02 19:20:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407877"	"00406630"	"1"	"00000"	"03840"	"2022-04-03 11:33:46"	""	""	"?"	"DNA"	""	"dominant negative behavior"
"0000407878"	"00406631"	"1"	"00000"	"03840"	"2022-04-03 11:33:46"	""	""	"?"	"DNA"	""	"reduced RetGC-1 acivity by 50%"
"0000407879"	"00406632"	"1"	"00000"	"03840"	"2022-04-03 11:33:46"	""	""	"?"	"DNA"	""	"no alteration in cyclase activity, but expected to reduce RNA levels, which in this setup could not be replicated (strong promoter)"
"0000407880"	"00406633"	"1"	"00000"	"03840"	"2022-04-03 11:33:46"	""	""	"?"	"DNA"	""	"dominant negative behavior"
"0000407881"	"00406634"	"1"	"00000"	"03840"	"2022-04-03 12:39:30"	""	""	"SEQ;SSCA"	"DNA"	"blood"	""
"0000407882"	"00406635"	"1"	"00000"	"03840"	"2022-04-03 12:39:30"	""	""	"SSCA"	"DNA"	"blood"	""
"0000407883"	"00406636"	"1"	"00000"	"03840"	"2022-04-03 12:39:30"	""	""	"SSCA"	"DNA"	"blood"	""
"0000407884"	"00406637"	"1"	"00000"	"03840"	"2022-04-03 12:39:30"	""	""	"SSCA"	"DNA"	"blood"	""
"0000407885"	"00406638"	"1"	"00000"	"03840"	"2022-04-03 12:39:30"	""	""	"SSCA"	"DNA"	"blood"	""
"0000407886"	"00406639"	"1"	"00000"	"03840"	"2022-04-03 12:39:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407887"	"00406640"	"1"	"00000"	"03840"	"2022-04-03 12:39:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407903"	"00406656"	"1"	"00000"	"03840"	"2022-04-03 23:32:15"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407904"	"00406657"	"1"	"00000"	"03840"	"2022-04-03 23:32:15"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407905"	"00406658"	"1"	"00000"	"03840"	"2022-04-04 11:01:17"	""	""	"STR;DHPLC;SEQ"	"DNA"	""	""
"0000407906"	"00406659"	"1"	"00000"	"03840"	"2022-04-04 11:01:17"	""	""	"STR;DHPLC;SEQ"	"DNA"	""	""
"0000407907"	"00406660"	"1"	"00000"	"03840"	"2022-04-04 11:01:17"	""	""	"STR;DHPLC;SEQ"	"DNA"	""	""
"0000407908"	"00406661"	"1"	"00000"	"03840"	"2022-04-04 11:01:17"	""	""	"STR;DHPLC;SEQ"	"DNA"	""	""
"0000407909"	"00406662"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407910"	"00406663"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407911"	"00406664"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407912"	"00406665"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407913"	"00406666"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407914"	"00406667"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407915"	"00406668"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407916"	"00406669"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407917"	"00406670"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407918"	"00406671"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407919"	"00406672"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407920"	"00406673"	"1"	"00000"	"03840"	"2022-04-04 12:07:33"	""	""	"STR;SEQ"	"DNA"	""	""
"0000407921"	"00406674"	"1"	"00000"	"03840"	"2022-04-04 12:35:34"	""	""	"SEQ"	"DNA"	""	""
"0000407922"	"00406675"	"1"	"00000"	"03840"	"2022-04-04 12:35:34"	""	""	"SEQ"	"DNA"	""	""
"0000407923"	"00406676"	"1"	"00000"	"03840"	"2022-04-04 12:35:34"	""	""	"SEQ"	"DNA"	""	""
"0000407924"	"00406677"	"1"	"00000"	"03840"	"2022-04-04 12:35:34"	""	""	"SEQ"	"DNA"	""	""
"0000407925"	"00406678"	"1"	"00000"	"03840"	"2022-04-04 12:35:34"	""	""	"SEQ"	"DNA"	""	""
"0000407926"	"00406679"	"1"	"00000"	"03840"	"2022-04-04 12:35:34"	""	""	"SEQ"	"DNA"	""	""
"0000407928"	"00406681"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407929"	"00406682"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407930"	"00406683"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407931"	"00406684"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407932"	"00406685"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407933"	"00406686"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407934"	"00406687"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407935"	"00406688"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407936"	"00406689"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407937"	"00406690"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407938"	"00406691"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407939"	"00406692"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407940"	"00406693"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407941"	"00406694"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407942"	"00406695"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407943"	"00406696"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407944"	"00406697"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407945"	"00406698"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407946"	"00406699"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407947"	"00406700"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407948"	"00406701"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407949"	"00406702"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407950"	"00406703"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407951"	"00406704"	"1"	"00000"	"03840"	"2022-04-04 13:35:01"	""	""	"SEQ"	"DNA"	""	""
"0000407952"	"00406705"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407953"	"00406706"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407954"	"00406707"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407955"	"00406708"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407956"	"00406709"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407957"	"00406710"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407958"	"00406711"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407959"	"00406712"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407960"	"00406713"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407961"	"00406714"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407962"	"00406715"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407963"	"00406716"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407964"	"00406717"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407965"	"00406718"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407966"	"00406719"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407967"	"00406720"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407968"	"00406721"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407969"	"00406722"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407970"	"00406723"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407971"	"00406724"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407972"	"00406725"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407973"	"00406726"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407974"	"00406727"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407975"	"00406728"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407976"	"00406729"	"1"	"00000"	"03840"	"2022-04-04 14:34:26"	""	""	"SEQ"	"DNA"	""	""
"0000407988"	"00406741"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;SEQ"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407989"	"00406742"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407990"	"00406743"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407991"	"00406744"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407992"	"00406745"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407993"	"00406746"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407994"	"00406747"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407995"	"00406748"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407996"	"00406749"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407997"	"00406750"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407998"	"00406751"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000407999"	"00406752"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408000"	"00406753"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408001"	"00406754"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408002"	"00406755"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408003"	"00406756"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408004"	"00406757"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408005"	"00406758"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408006"	"00406759"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408007"	"00406760"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408008"	"00406761"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408009"	"00406762"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408010"	"00406763"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408011"	"00406764"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408012"	"00406765"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408013"	"00406766"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408014"	"00406767"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408015"	"00406768"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408016"	"00406769"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408017"	"00406770"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408018"	"00406771"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408019"	"00406772"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408020"	"00406773"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408021"	"00406774"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408022"	"00406775"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408023"	"00406776"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408024"	"00406777"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408025"	"00406778"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408026"	"00406779"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408027"	"00406780"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408028"	"00406781"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408029"	"00406782"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408030"	"00406783"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408031"	"00406784"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408032"	"00406785"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408033"	"00406786"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408034"	"00406787"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408035"	"00406788"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408036"	"00406789"	"1"	"00000"	"03840"	"2022-04-05 10:49:49"	""	""	"STR;RFLP"	"DNA"	"blood"	"HhaI restriction enzyme"
"0000408037"	"00406790"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408038"	"00406791"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408039"	"00406792"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408040"	"00406793"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408041"	"00406794"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408042"	"00406795"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408043"	"00406796"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408044"	"00406797"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408045"	"00406798"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408046"	"00406799"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408047"	"00406800"	"1"	"00000"	"03840"	"2022-04-05 11:28:05"	""	""	"SEQ"	"DNA"	""	""
"0000408070"	"00406823"	"1"	"00000"	"03840"	"2022-04-05 14:08:57"	""	""	"SEQ"	"DNA"	""	""
"0000408071"	"00406824"	"1"	"00000"	"03840"	"2022-04-05 14:08:57"	""	""	"SEQ"	"DNA"	""	""
"0000408072"	"00406825"	"1"	"00000"	"03840"	"2022-04-05 14:08:57"	""	""	"SEQ"	"DNA"	""	""
"0000408073"	"00406826"	"1"	"00000"	"03840"	"2022-04-05 14:08:57"	""	""	"SEQ"	"DNA"	""	""
"0000408074"	"00406827"	"1"	"00000"	"03840"	"2022-04-05 14:08:57"	""	""	"SEQ"	"DNA"	""	""
"0000408075"	"00406828"	"1"	"00000"	"03840"	"2022-04-05 14:08:57"	""	""	"SEQ"	"DNA"	""	""
"0000409662"	"00408405"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409663"	"00408406"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409664"	"00408407"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409665"	"00408408"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409666"	"00408409"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409667"	"00408410"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409668"	"00408411"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000415757"	"00414477"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000419891"	"00418596"	"1"	"00006"	"00006"	"2022-10-01 10:38:21"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420869"	"00419565"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000421817"	"00420508"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421860"	"00420551"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421886"	"00420577"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000431108"	"00429695"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431231"	"00429818"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431276"	"00429863"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431285"	"00429872"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431370"	"00429957"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431503"	"00430090"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000445864"	"00444290"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000448632"	"00447055"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448644"	"00447067"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448663"	"00447086"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448665"	"00447088"	"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"
"0000448897"	"00447320"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448919"	"00447342"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448962"	"00447385"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448970"	"00447393"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449049"	"00447472"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449095"	"00447518"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449131"	"00447554"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449154"	"00447577"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449256"	"00447679"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449580"	"00448007"	"1"	"00006"	"00006"	"2024-02-09 14:35:24"	""	""	"SEQ"	"DNA"	""	""
"0000452449"	"00450851"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452450"	"00450852"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452451"	"00450853"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452452"	"00450854"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452453"	"00450855"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452454"	"00450856"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452455"	"00450857"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452456"	"00450858"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452457"	"00450859"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452458"	"00450860"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452459"	"00450861"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452460"	"00450862"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452529"	"00450931"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000462699"	"00461067"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000462718"	"00461086"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000471656"	"00469988"	"1"	"00006"	"00006"	"2025-11-24 13:17:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"we"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 831
"{{screeningid}}"	"{{geneid}}"
"0000033166"	"GUCY2D"
"0000033166"	"RP1"
"0000033172"	"GUCY2D"
"0000033172"	"RPGR"
"0000033191"	"GUCY2D"
"0000033191"	"SNRNP200"
"0000033198"	"ABCA4"
"0000033198"	"GUCY2D"
"0000033198"	"NPHP3"
"0000033198"	"PDE6B"
"0000033198"	"RP9"
"0000033200"	"ABCA4"
"0000033200"	"EYS"
"0000033200"	"GUCY2D"
"0000033206"	"GUCY2D"
"0000033206"	"PDE6B"
"0000033206"	"RP1"
"0000033206"	"SEMA4A"
"0000033207"	"GUCY2D"
"0000033209"	"GUCY2D"
"0000033209"	"PROM1"
"0000033209"	"RPGR"
"0000033209"	"TOPORS"
"0000033218"	"GUCY2D"
"0000033219"	"GUCY2D"
"0000033220"	"ABCA4"
"0000033220"	"AIPL1"
"0000033220"	"GUCY2D"
"0000033220"	"NR2E3"
"0000033222"	"GUCA1B"
"0000033222"	"GUCY2D"
"0000033222"	"NYX"
"0000033228"	"GUCY2D"
"0000033231"	"GUCY2D"
"0000033235"	"GUCY2D"
"0000033235"	"RP1"
"0000033237"	"GUCY2D"
"0000033237"	"RP1"
"0000033684"	"GUCY2D"
"0000033705"	"GUCY2D"
"0000033762"	"GUCY2D"
"0000033763"	"GUCY2D"
"0000033764"	"GUCY2D"
"0000033765"	"GUCY2D"
"0000033766"	"GUCY2D"
"0000033767"	"GUCY2D"
"0000033768"	"GUCY2D"
"0000033769"	"GUCY2D"
"0000033770"	"GUCY2D"
"0000038283"	"CRB1"
"0000038284"	"CRB1"
"0000038285"	"CRB1"
"0000038300"	"CRB1"
"0000038536"	"CRB1"
"0000052461"	"RPE65"
"0000052894"	"RPE65"
"0000078699"	"GUCY2D"
"0000100472"	"GUCY2D"
"0000100476"	"GUCY2D"
"0000156340"	"GUCY2D"
"0000156341"	"GUCY2D"
"0000156342"	"GUCY2D"
"0000156343"	"HGSNAT"
"0000156344"	"IDH3A"
"0000208703"	"A2LD1"
"0000241548"	"GUCY2D"
"0000241549"	"GUCY2D"
"0000241550"	"GUCY2D"
"0000241551"	"GUCY2D"
"0000276841"	"GUCY2D"
"0000304750"	"GUCY2D"
"0000309525"	"GUCY2D"
"0000309526"	"GUCY2D"
"0000309527"	"GUCY2D"
"0000309528"	"GUCY2D"
"0000309529"	"GUCY2D"
"0000309657"	"GUCY2D"
"0000309779"	"GUCY2D"
"0000309803"	"GUCY2D"
"0000309804"	"GUCY2D"
"0000309897"	"GUCY2D"
"0000310320"	"GUCY2D"
"0000310321"	"GUCY2D"
"0000310322"	"GUCY2D"
"0000310323"	"GUCY2D"
"0000310324"	"GUCY2D"
"0000310325"	"GUCY2D"
"0000310326"	"GUCY2D"
"0000310327"	"GUCY2D"
"0000310328"	"GUCY2D"
"0000310329"	"GUCY2D"
"0000310330"	"GUCY2D"
"0000310331"	"GUCY2D"
"0000310332"	"GUCY2D"
"0000310333"	"GUCY2D"
"0000310818"	"GUCY2D"
"0000310819"	"GUCY2D"
"0000310820"	"GUCY2D"
"0000310821"	"GUCY2D"
"0000310822"	"GUCY2D"
"0000310823"	"GUCY2D"
"0000310824"	"GUCY2D"
"0000326642"	"GUCY2D"
"0000326644"	"GUCY2D"
"0000326646"	"GUCY2D"
"0000326688"	"GUCY2D"
"0000326723"	"GUCY2D"
"0000329152"	"GUCY2D"
"0000329220"	"GUCY2D"
"0000329258"	"GUCY2D"
"0000329290"	"GUCY2D"
"0000329676"	"GUCY2D"
"0000329705"	"GUCY2D"
"0000332499"	"GUCY2D"
"0000333152"	"ABCA4"
"0000333152"	"GUCY2D"
"0000333247"	"GUCY2D"
"0000333248"	"GUCY2D"
"0000333249"	"GUCY2D"
"0000333250"	"GUCY2D"
"0000333251"	"GUCY2D"
"0000333252"	"GUCY2D"
"0000333483"	"GUCY2D"
"0000333584"	"GUCY2D"
"0000333585"	"GUCY2D"
"0000333586"	"GUCY2D"
"0000333587"	"GUCY2D"
"0000333588"	"GUCY2D"
"0000333604"	"GUCY2D"
"0000333605"	"GUCY2D"
"0000333606"	"GUCY2D"
"0000333607"	"GUCY2D"
"0000333608"	"GUCY2D"
"0000333686"	"GUCY2D"
"0000333696"	"GUCY2D"
"0000333720"	"GUCY2D"
"0000333721"	"GUCY2D"
"0000334584"	"RHO"
"0000334615"	"USH2A"
"0000334628"	"GUCY2D"
"0000334811"	"GUCY2D"
"0000334857"	"GUCY2D"
"0000334858"	"GUCY2D"
"0000335151"	"GUCY2D"
"0000335790"	"CRB1"
"0000335790"	"GUCY2D"
"0000336346"	"GUCY2D"
"0000336347"	"GUCY2D"
"0000336348"	"GUCY2D"
"0000336349"	"GUCY2D"
"0000336350"	"GUCY2D"
"0000336351"	"GUCY2D"
"0000336443"	"GUCY2D"
"0000336444"	"GUCY2D"
"0000336505"	"GUCY2D"
"0000336533"	"GUCY2D"
"0000336534"	"GUCY2D"
"0000336820"	"GUCY2D"
"0000336823"	"GUCY2D"
"0000336824"	"GUCY2D"
"0000336825"	"GUCY2D"
"0000336826"	"GUCY2D"
"0000336827"	"GUCY2D"
"0000336828"	"GUCY2D"
"0000336829"	"GUCY2D"
"0000336830"	"GUCY2D"
"0000336839"	"GUCY2D"
"0000336840"	"GUCY2D"
"0000336841"	"GUCY2D"
"0000336851"	"GUCY2D"
"0000336852"	"GUCY2D"
"0000336853"	"GUCY2D"
"0000336854"	"GUCY2D"
"0000336855"	"GUCY2D"
"0000336856"	"GUCY2D"
"0000337206"	"GUCY2D"
"0000360131"	"GUCY2D"
"0000360132"	"GUCY2D"
"0000360133"	"GUCY2D"
"0000360134"	"GUCY2D"
"0000360135"	"GUCY2D"
"0000360136"	"GUCY2D"
"0000363297"	"GUCY2D"
"0000363298"	"GUCY2D"
"0000363299"	"GUCY2D"
"0000363300"	"GUCY2D"
"0000363301"	"GUCY2D"
"0000363389"	"GUCY2D"
"0000363416"	"GUCY2D"
"0000364132"	"GUCY2D"
"0000364575"	"GUCY2D"
"0000364802"	"GUCY2D"
"0000364872"	"GUCY2D"
"0000364947"	"GUCY2D"
"0000364961"	"GUCY2D"
"0000373297"	"GUCY2D"
"0000373645"	"GUCY2D"
"0000373646"	"GUCY2D"
"0000373667"	"GUCY2D"
"0000373668"	"GUCY2D"
"0000373669"	"GUCY2D"
"0000373670"	"GUCY2D"
"0000373704"	"GUCY2D"
"0000373705"	"GUCY2D"
"0000373706"	"GUCY2D"
"0000373707"	"GUCY2D"
"0000373708"	"GUCY2D"
"0000373709"	"GUCY2D"
"0000373710"	"GUCY2D"
"0000373722"	"GUCY2D"
"0000374642"	"GUCY2D"
"0000376181"	"GUCY2D"
"0000376637"	"GUCY2D"
"0000376657"	"GUCY2D"
"0000376659"	"GUCY2D"
"0000376660"	"GUCY2D"
"0000376663"	"GUCY2D"
"0000376668"	"GUCY2D"
"0000376703"	"GUCY2D"
"0000376704"	"GUCY2D"
"0000376705"	"GUCY2D"
"0000376706"	"GUCY2D"
"0000376707"	"CRX"
"0000376707"	"GUCY2D"
"0000376708"	"GUCY2D"
"0000377474"	"GUCY2D"
"0000377475"	"GUCY2D"
"0000377476"	"GUCY2D"
"0000377477"	"GUCY2D"
"0000377478"	"GUCY2D"
"0000377479"	"GUCY2D"
"0000377480"	"GUCY2D"
"0000377670"	"GUCY2D"
"0000377671"	"GUCY2D"
"0000377672"	"GUCY2D"
"0000377675"	"GUCY2D"
"0000377679"	"GUCY2D"
"0000377923"	"AIPL1"
"0000377923"	"CRB1"
"0000377923"	"CRX"
"0000377923"	"GUCY2D"
"0000377923"	"LRAT"
"0000377923"	"MERTK"
"0000377923"	"RPE65"
"0000377923"	"RPGRIP1"
"0000377924"	"AIPL1"
"0000377924"	"CRB1"
"0000377924"	"CRX"
"0000377924"	"GUCY2D"
"0000377924"	"LRAT"
"0000377924"	"MERTK"
"0000377924"	"RPE65"
"0000377924"	"RPGRIP1"
"0000377925"	"AIPL1"
"0000377925"	"CRB1"
"0000377925"	"CRX"
"0000377925"	"GUCY2D"
"0000377925"	"LRAT"
"0000377925"	"MERTK"
"0000377925"	"RPE65"
"0000377925"	"RPGRIP1"
"0000377929"	"AIPL1"
"0000377929"	"CRB1"
"0000377929"	"CRX"
"0000377929"	"GUCY2D"
"0000377929"	"LRAT"
"0000377929"	"MERTK"
"0000377929"	"RPE65"
"0000377929"	"RPGRIP1"
"0000377930"	"AIPL1"
"0000377930"	"CRB1"
"0000377930"	"CRX"
"0000377930"	"GUCY2D"
"0000377930"	"LRAT"
"0000377930"	"MERTK"
"0000377930"	"RPE65"
"0000377930"	"RPGRIP1"
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"0000408039"	"GUCY2D"
"0000408040"	"GUCY2D"
"0000408041"	"GUCY2D"
"0000408042"	"GUCY2D"
"0000408043"	"GUCY2D"
"0000408044"	"GUCY2D"
"0000408045"	"GUCY2D"
"0000408046"	"GUCY2D"
"0000408047"	"GUCY2D"
"0000408070"	"GUCY2D"
"0000408071"	"GUCY2D"
"0000408072"	"GUCY2D"
"0000408073"	"GUCY2D"
"0000408074"	"GUCY2D"
"0000408075"	"GUCY2D"
"0000409662"	"GUCY2D"
"0000409663"	"GUCY2D"
"0000409664"	"GUCY2D"
"0000409665"	"GUCY2D"
"0000409666"	"GUCY2D"
"0000409667"	"GUCY2D"
"0000409668"	"GUCY2D"
"0000415757"	"CHM"
"0000421817"	"GUCY2D"
"0000421860"	"GUCY2D"
"0000421886"	"GUCY2D"
"0000431108"	"GUCY2D"
"0000431231"	"GUCY2D"
"0000431276"	"GUCY2D"
"0000431285"	"GUCY2D"
"0000431370"	"GUCY2D"
"0000431503"	"GUCY2D"
"0000449580"	"UBAP1L"


## 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 = 1116
"{{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}}"
"0000005665"	"0"	"30"	"17"	"7918490"	"7918490"	"subst"	"0"	"00037"	"GUCY2D_000010"	"g.7918490T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015172T>C"	""	"likely benign"	""
"0000036430"	"0"	"50"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00552"	"GUCY2D_000009"	"g.7918018C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"VUS"	""
"0000059901"	"1"	"30"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted unknown effect on function, present at significant fraction in Exome Variant Server"	"Germline"	""	""	"0"	""	""	"g.8003201G>T"	""	"likely benign"	""
"0000059902"	"2"	"30"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted unknown effect on function, present at significant fraction in Exome Variant Server"	"Germline"	""	""	"0"	""	""	"g.8003201G>T"	""	"likely benign"	""
"0000059903"	"1"	"50"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted unknown effect on function, present at significant fraction in Exome Variant Server"	"Germline"	"yes"	""	"0"	""	""	"g.8003201G>T"	""	"VUS"	""
"0000059904"	"2"	"50"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted unknown effect on function, present at significant fraction in Exome Variant Server"	"Germline"	"yes"	""	"0"	""	""	"g.8003201G>T"	""	"VUS"	""
"0000059905"	"1"	"50"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"disease-related variants in other gene; not segregating with disease in other family"	"Germline"	""	""	"0"	""	""	"g.8003201G>T"	""	"VUS"	""
"0000059906"	"1"	"50"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.8003201G>T"	""	"VUS"	""
"0000059907"	"1"	"50"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"not segregating with disease in other family"	"Germline"	""	""	"0"	""	""	"g.8003201G>T"	""	"VUS"	""
"0000059908"	"1"	"50"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"00229"	"GUCY2D_000001"	"g.7906519G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"not segregating with disease in other family"	"Germline"	""	""	"0"	""	""	"g.8003201G>T"	""	"VUS"	""
"0000059909"	"1"	"10"	"17"	"7911253"	"7911253"	"subst"	"0"	"00229"	"GUCY2D_000002"	"g.7911253C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	""	""	"0"	""	""	"g.8007935C>T"	""	"benign"	""
"0000059910"	"1"	"70"	"17"	"7912879"	"7912879"	"subst"	"0.00390235"	"00229"	"GUCY2D_000003"	"g.7912879C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function but present at significant fraction in Exome Variant Server; segregates in family"	"Germline"	""	""	"0"	""	""	"g.8009561C>T"	""	"likely pathogenic"	""
"0000059911"	"1"	"10"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00229"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	""	""	"0"	""	""	"g.8012594C>T"	""	"benign"	""
"0000059912"	"1"	"50"	"17"	"7916472"	"7916472"	"subst"	"2.84998E-5"	"00229"	"GUCY2D_000005"	"g.7916472G>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.8013154G>A"	""	"VUS"	""
"0000059913"	"1"	"10"	"17"	"7919754"	"7919754"	"subst"	"0.0204928"	"00229"	"GUCY2D_000006"	"g.7919754C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign; not segregating with disease in other family"	"Germline"	""	""	"0"	""	""	"g.8016436C>T"	""	"benign"	""
"0000059914"	"1"	"10"	"17"	"7919754"	"7919754"	"subst"	"0.0204928"	"00229"	"GUCY2D_000006"	"g.7919754C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign; not segregating with disease in other families"	"Germline"	"no"	""	"0"	""	""	"g.8016436C>T"	""	"benign"	""
"0000059915"	"1"	"10"	"17"	"7919754"	"7919754"	"subst"	"0.0204928"	"00229"	"GUCY2D_000006"	"g.7919754C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	"no"	""	"0"	""	""	"g.8016436C>T"	""	"benign"	""
"0000059916"	"1"	"10"	"17"	"7919754"	"7919754"	"subst"	"0.0204928"	"00229"	"GUCY2D_000006"	"g.7919754C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign; not segregating with disease in other families"	"Germline"	"no"	""	"0"	""	""	"g.8016436C>T"	""	"benign"	""
"0000059917"	"1"	"10"	"17"	"7919754"	"7919754"	"subst"	"0.0204928"	"00229"	"GUCY2D_000006"	"g.7919754C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign; not segregating with disease in other family"	"Germline"	""	""	"0"	""	""	"g.8016436C>T"	""	"benign"	""
"0000059918"	"1"	"10"	"17"	"7906426"	"7906426"	"subst"	"0.0486711"	"00229"	"GUCY2D_000007"	"g.7906426T>C"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	"no"	""	"0"	""	""	"g.8003108T>C"	""	"benign"	""
"0000059919"	"10"	"90"	"17"	"7907442"	"7907442"	"del"	"0"	"00243"	"GUCY2D_000008"	"g.7907442del"	"7/210"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8004124del"	""	"pathogenic"	""
"0000059920"	"20"	"90"	"17"	"7907442"	"7907442"	"del"	"0"	"00243"	"GUCY2D_000008"	"g.7907442del"	"7/210"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8004124del"	""	"pathogenic"	""
"0000059921"	"0"	"90"	"17"	"7918347"	"7918347"	"subst"	"0"	"01244"	"GUCY2D_000019"	"g.7918347T>C"	""	"{PMID:De Castro-Miró 2014:24516651}"	"BccI+, BsrI+"	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8015029T>C"	""	"pathogenic"	""
"0000059922"	"3"	"70"	"17"	"7918263"	"7918263"	"del"	"0"	"00243"	"GUCY2D_000020"	"g.7918263del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014945del"	""	"likely pathogenic"	""
"0000059924"	"3"	"70"	"17"	"7918761"	"7918761"	"del"	"0"	"00243"	"GUCY2D_000011"	"g.7918761del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8015443del"	""	"likely pathogenic"	""
"0000059926"	"3"	"70"	"17"	"7919266"	"7919266"	"subst"	"0"	"00243"	"GUCY2D_000012"	"g.7919266T>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8015948T>A"	""	"likely pathogenic"	""
"0000059928"	"3"	"70"	"17"	"7906889"	"7906889"	"subst"	"0"	"00243"	"GUCY2D_000013"	"g.7906889T>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8003571T>G"	""	"likely pathogenic"	""
"0000059930"	"3"	"70"	"17"	"7915502"	"7915502"	"subst"	"0"	"00243"	"GUCY2D_000014"	"g.7915502G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8012184G>A"	""	"likely pathogenic"	""
"0000059933"	"3"	"70"	"17"	"7919153"	"7919153"	"subst"	"0"	"00243"	"GUCY2D_000015"	"g.7919153G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8015835G>A"	""	"likely pathogenic"	""
"0000059935"	"3"	"70"	"17"	"7907287"	"7907287"	"subst"	"0"	"00243"	"GUCY2D_000016"	"g.7907287C>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8003969C>G"	""	"likely pathogenic"	""
"0000059937"	"3"	"70"	"17"	"7916489"	"7916489"	"subst"	"8.13213E-6"	"00243"	"GUCY2D_000017"	"g.7916489G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8013171G>A"	""	"likely pathogenic"	""
"0000059938"	"21"	"70"	"17"	"7906524"	"7906524"	"del"	"0"	"00243"	"GUCY2D_000018"	"g.7906524del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8003206del"	""	"likely pathogenic"	""
"0000119968"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00105"	"GUCY2D_000021"	"g.7916436C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000162771"	"3"	"90"	"17"	"7917318"	"7917318"	"subst"	"0"	"01769"	"GUCY2D_000023"	"g.7917318G>A"	""	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	"rs61750171"	"0"	""	""	"g.8014000G>A"	""	"pathogenic"	""
"0000162775"	"3"	"90"	"17"	"7916496"	"7916496"	"subst"	"0"	"01769"	"GUCY2D_000022"	"g.7916496T>C"	""	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8013178T>C"	""	"pathogenic"	""
"0000170876"	"3"	"90"	"17"	"7907362"	"7907362"	"del"	"0"	"01244"	"GUCY2D_000024"	"g.7907362del"	""	"{PMID:de Castro-Miró 2016:28005958}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8004044del"	""	"pathogenic"	"ACMG"
"0000277525"	"0"	"30"	"17"	"7906486"	"7906486"	"subst"	"0.000114229"	"02330"	"GUCY2D_000026"	"g.7906486C>T"	""	""	""	"GUCY2D(NM_000180.4):c.121C>T (p.L41F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003168C>T"	""	"likely benign"	""
"0000277526"	"0"	"10"	"17"	"7909890"	"7909890"	"subst"	"0.000730487"	"02330"	"GUCY2D_000033"	"g.7909890C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1236C>T (p.D412=), GUCY2D(NM_000180.4):c.1236C>T (p.D412=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8006572C>T"	""	"benign"	""
"0000277527"	"0"	"50"	"17"	"7906494"	"7906499"	"del"	"0"	"02330"	"GUCY2D_000027"	"g.7906494_7906499del"	""	""	""	"GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003176_8003181del"	""	"VUS"	""
"0000277528"	"0"	"30"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"02330"	"GUCY2D_000028"	"g.7906529C>T"	""	""	""	"GUCY2D(NM_000180.3):c.164C>T (p.T55M), GUCY2D(NM_000180.4):c.164C>T (p.T55M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003211C>T"	""	"likely benign"	""
"0000277529"	"0"	"10"	"17"	"7915650"	"7915650"	"subst"	"0.000187103"	"02330"	"GUCY2D_000035"	"g.7915650C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1938C>T (p.L646=), GUCY2D(NM_000180.4):c.1938C>T (p.L646=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8012332C>T"	""	"benign"	""
"0000277530"	"0"	"50"	"17"	"7916472"	"7916472"	"subst"	"2.84998E-5"	"02330"	"GUCY2D_000005"	"g.7916472G>A"	""	""	""	"GUCY2D(NM_000180.4):c.2165G>A (p.R722Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013154G>A"	""	"VUS"	""
"0000277531"	"0"	"10"	"17"	"7916488"	"7916488"	"subst"	"0.000666938"	"02330"	"GUCY2D_000037"	"g.7916488C>A"	""	""	""	"GUCY2D(NM_000180.4):c.2181C>A (p.G727=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013170C>A"	""	"benign"	""
"0000277532"	"0"	"10"	"17"	"7916566"	"7916566"	"subst"	"8.13848E-6"	"02330"	"GUCY2D_000038"	"g.7916566C>T"	""	""	""	"GUCY2D(NM_000180.4):c.2259C>T (p.P753=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013248C>T"	""	"benign"	""
"0000277533"	"0"	"10"	"17"	"7917997"	"7917997"	"subst"	"0.000101529"	"02330"	"GUCY2D_000039"	"g.7917997C>T"	""	""	""	"GUCY2D(NM_000180.4):c.2491C>T (p.L831=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014679C>T"	""	"benign"	""
"0000277534"	"0"	"10"	"17"	"7918282"	"7918282"	"subst"	"8.1215E-6"	"02330"	"GUCY2D_000042"	"g.7918282C>T"	""	""	""	"GUCY2D(NM_000180.4):c.2682C>T (p.A894=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014964C>T"	""	"benign"	""
"0000277535"	"0"	"10"	"17"	"7918837"	"7918837"	"subst"	"4.26374E-6"	"02330"	"GUCY2D_000043"	"g.7918837C>G"	""	""	""	"GUCY2D(NM_000180.4):c.2944+17C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8015519C>G"	""	"benign"	""
"0000277536"	"0"	"10"	"17"	"7906734"	"7906734"	"subst"	"0.000977488"	"02330"	"GUCY2D_000029"	"g.7906734C>T"	""	""	""	"GUCY2D(NM_000180.3):c.369C>T (p.G123=), GUCY2D(NM_000180.4):c.369C>T (p.G123=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003416C>T"	""	"benign"	""
"0000277537"	"0"	"10"	"17"	"7906773"	"7906773"	"subst"	"0"	"02330"	"GUCY2D_000030"	"g.7906773C>T"	""	""	""	"GUCY2D(NM_000180.4):c.408C>T (p.A136=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003455C>T"	""	"benign"	""
"0000277538"	"0"	"50"	"17"	"7906847"	"7906847"	"subst"	"3.68422E-5"	"02330"	"GUCY2D_000031"	"g.7906847C>T"	""	""	""	"GUCY2D(NM_000180.4):c.482C>T (p.T161M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003529C>T"	""	"VUS"	""
"0000277539"	"0"	"50"	"17"	"7906439"	"7906439"	"subst"	"0.00220204"	"02330"	"GUCY2D_000025"	"g.7906439C>T"	""	""	""	"GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003121C>T"	""	"VUS"	""
"0000281201"	"0"	"10"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"02325"	"GUCY2D_000001"	"g.7906519G>T"	""	""	""	"GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003201G>T"	""	"benign"	""
"0000288893"	"0"	"10"	"17"	"7909773"	"7909773"	"subst"	"0.0199281"	"01943"	"GUCY2D_000032"	"g.7909773G>A"	""	""	""	"GUCY2D(NM_000180.3):c.1119G>A (p.V373=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8006455G>A"	""	"benign"	""
"0000288894"	"0"	"50"	"17"	"7909911"	"7909911"	"subst"	"8.27993E-5"	"01943"	"GUCY2D_000034"	"g.7909911G>A"	""	""	""	"GUCY2D(NM_000180.3):c.1257G>A (p.M419I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8006593G>A"	""	"VUS"	""
"0000288895"	"0"	"50"	"17"	"7906494"	"7906499"	"del"	"0"	"01943"	"GUCY2D_000027"	"g.7906494_7906499del"	""	""	""	"GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003176_8003181del"	""	"VUS"	""
"0000288896"	"0"	"10"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"01943"	"GUCY2D_000001"	"g.7906519G>T"	""	""	""	"GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003201G>T"	""	"benign"	""
"0000288897"	"0"	"50"	"17"	"7916486"	"7916486"	"subst"	"0.000349815"	"01943"	"GUCY2D_000036"	"g.7916486G>A"	""	""	""	"GUCY2D(NM_000180.3):c.2179G>A (p.G727S), GUCY2D(NM_000180.4):c.2179G>A (p.G727S, p.(Gly727Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013168G>A"	""	"VUS"	""
"0000288898"	"0"	"50"	"17"	"7918022"	"7918022"	"subst"	"4.06134E-6"	"01943"	"GUCY2D_000040"	"g.7918022C>T"	""	""	""	"GUCY2D(NM_000180.3):c.2516C>T (p.T839M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014704C>T"	""	"VUS"	""
"0000288899"	"0"	"50"	"17"	"7918229"	"7918229"	"subst"	"0"	"01943"	"GUCY2D_000041"	"g.7918229G>C"	""	""	""	"GUCY2D(NM_000180.3):c.2629G>C (p.E877Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014911G>C"	""	"VUS"	""
"0000288900"	"0"	"10"	"17"	"7919754"	"7919754"	"subst"	"0.0204928"	"01943"	"GUCY2D_000006"	"g.7919754C>T"	""	""	""	"GUCY2D(NM_000180.3):c.3225-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8016436C>T"	""	"benign"	""
"0000288901"	"0"	"10"	"17"	"7906426"	"7906426"	"subst"	"0.0486711"	"01943"	"GUCY2D_000007"	"g.7906426T>C"	""	""	""	"GUCY2D(NM_000180.3):c.61T>C (p.W21R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003108T>C"	""	"benign"	""
"0000288902"	"0"	"30"	"17"	"7906439"	"7906439"	"subst"	"0.00220204"	"01943"	"GUCY2D_000025"	"g.7906439C>T"	""	""	""	"GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003121C>T"	""	"likely benign"	""
"0000338771"	"0"	"10"	"17"	"7906057"	"7906057"	"subst"	"0"	"02327"	"GUCY2D_000044"	"g.7906057A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8002739A>G"	""	"benign"	""
"0000338772"	"0"	"30"	"17"	"7923432"	"7923432"	"subst"	"0"	"02327"	"GUCY2D_000064"	"g.7923432G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8020114G>A"	""	"likely benign"	""
"0000338773"	"0"	"10"	"17"	"7923564"	"7923564"	"subst"	"0"	"02327"	"GUCY2D_000065"	"g.7923564T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8020246T>C"	""	"benign"	""
"0000340463"	"0"	"10"	"17"	"7907189"	"7907189"	"subst"	"0.117811"	"02327"	"GUCY2D_000046"	"g.7907189C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003871C>T"	""	"benign"	""
"0000340464"	"0"	"30"	"17"	"7910025"	"7910025"	"subst"	"0.00955946"	"02327"	"GUCY2D_000050"	"g.7910025C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8006707C>T"	""	"likely benign"	""
"0000340465"	"0"	"10"	"17"	"7915920"	"7915920"	"subst"	"0.0754722"	"02327"	"GUCY2D_000053"	"g.7915920G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8012602G>A"	""	"benign"	""
"0000340466"	"0"	"10"	"17"	"7918023"	"7918023"	"subst"	"0.00354158"	"02327"	"GUCY2D_000059"	"g.7918023G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014705G>A"	""	"benign"	""
"0000341487"	"0"	"10"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"02327"	"GUCY2D_000001"	"g.7906519G>T"	""	""	""	"GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8003201G>T"	""	"benign"	""
"0000342738"	"0"	"30"	"17"	"7909747"	"7909747"	"subst"	"0.000825541"	"02327"	"GUCY2D_000048"	"g.7909747C>T"	""	""	""	"GUCY2D(NM_000180.4):c.1093C>T (p.R365W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8006429C>T"	""	"likely benign"	""
"0000343326"	"0"	"50"	"17"	"7916531"	"7916531"	"subst"	"2.43809E-5"	"02327"	"GUCY2D_000054"	"g.7916531C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013213C>T"	""	"VUS"	""
"0000343347"	"0"	"70"	"17"	"7917237"	"7917237"	"subst"	"8.12678E-6"	"02327"	"GUCY2D_000056"	"g.7917237G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013919G>A"	""	"likely pathogenic"	""
"0000343348"	"0"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"02327"	"GUCY2D_000055"	"g.7917236C>T"	""	""	""	"GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013918C>T"	""	"pathogenic"	""
"0000343409"	"0"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"02327"	"GUCY2D_000009"	"g.7918018C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000343410"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"02327"	"GUCY2D_000058"	"g.7918019G>A"	""	""	""	"GUCY2D(NM_000180.3):c.2513G>A (p.R838H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000344445"	"0"	"70"	"17"	"7915826"	"7915826"	"subst"	"0"	"02327"	"GUCY2D_000052"	"g.7915826G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8012508G>A"	""	"likely pathogenic"	""
"0000345578"	"0"	"50"	"17"	"7918220"	"7918220"	"subst"	"0"	"02327"	"GUCY2D_000060"	"g.7918220G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014902G>A"	""	"VUS"	""
"0000346241"	"0"	"50"	"17"	"7916486"	"7916486"	"subst"	"0.000349815"	"02327"	"GUCY2D_000036"	"g.7916486G>A"	""	""	""	"GUCY2D(NM_000180.3):c.2179G>A (p.G727S), GUCY2D(NM_000180.4):c.2179G>A (p.G727S, p.(Gly727Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013168G>A"	""	"VUS"	""
"0000346538"	"0"	"50"	"17"	"7918815"	"7918815"	"subst"	"0"	"02327"	"GUCY2D_000062"	"g.7918815A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8015497A>C"	""	"VUS"	""
"0000348074"	"0"	"90"	"17"	"7912849"	"7912849"	"subst"	"0"	"02327"	"GUCY2D_000051"	"g.7912849T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8009531T>C"	""	"pathogenic"	""
"0000348453"	"0"	"50"	"17"	"7909993"	"7909993"	"subst"	"0"	"02327"	"GUCY2D_000049"	"g.7909993C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1339C>T (p.P447S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8006675C>T"	""	"VUS"	""
"0000349198"	"0"	"70"	"17"	"7918252"	"7918252"	"subst"	"4.06062E-6"	"02327"	"GUCY2D_000061"	"g.7918252T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8014934T>G"	""	"likely pathogenic"	""
"0000350507"	"0"	"30"	"17"	"7909735"	"7909735"	"subst"	"0.000425697"	"02327"	"GUCY2D_000047"	"g.7909735G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8006417G>A"	""	"likely benign"	""
"0000350771"	"0"	"70"	"17"	"7919609"	"7919609"	"subst"	"1.20262E-5"	"02327"	"GUCY2D_000063"	"g.7919609G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8016291G>C"	""	"likely pathogenic"	""
"0000351378"	"0"	"10"	"17"	"7917279"	"7917279"	"subst"	"0.12252"	"02327"	"GUCY2D_000057"	"g.7917279T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8013961T>A"	""	"benign"	""
"0000358262"	"3"	"90"	"17"	"7906751"	"7906751"	"del"	"0"	"01243"	"GUCY2D_000066"	"g.7906751del"	""	"Sharon, submitted"	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000358263"	"3"	"90"	"17"	"7916436"	"7916436"	"subst"	"0"	"01243"	"GUCY2D_000021"	"g.7916436C>T"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013118C>T"	""	"pathogenic"	""
"0000358264"	"3"	"90"	"17"	"7917237"	"7917237"	"subst"	"8.12678E-6"	"01243"	"GUCY2D_000056"	"g.7917237G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013919G>A"	""	"pathogenic"	""
"0000358265"	"0"	"90"	"17"	"43013853"	"43013853"	"subst"	"0"	"01243"	"GUCY2D_000067"	"g.43013853A>T"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44936485A>T"	""	"pathogenic"	""
"0000358266"	"11"	"70"	"17"	"7907359"	"7907359"	"subst"	"0"	"01243"	"GUCY2D_000068"	"g.7907359C>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8004041C>A"	""	"likely pathogenic"	""
"0000358442"	"21"	"70"	"17"	"78458565"	"78458565"	"subst"	"0"	"01243"	"GUCY2D_000069"	"g.78458565T>C"	""	"Sharon, submitted"	""	""	"Variant 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"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000438637"	"3"	"90"	"17"	"7918083"	"7918083"	"subst"	"4.07691E-6"	"01244"	"GUCY2D_000071"	"g.7918083G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014765G>A"	""	"pathogenic"	""
"0000438642"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"01244"	"GUCY2D_000058"	"g.7918019G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000438663"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"01244"	"GUCY2D_000055"	"g.7917236C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013918C>T"	""	"pathogenic"	""
"0000438670"	"3"	"90"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"01244"	"GUCY2D_000070"	"g.7909997C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8006679C>A"	""	"pathogenic"	""
"0000487558"	"3"	"90"	"17"	"7909811"	"7909811"	"del"	"0"	"03335"	"GUCY2D_000074"	"g.7909811del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8006493del"	""	"pathogenic (dominant)"	""
"0000487559"	"21"	"70"	"17"	"7907430"	"7907430"	"subst"	"0"	"03335"	"GUCY2D_000072"	"g.7907430G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8004112G>C"	""	"likely pathogenic (recessive)"	""
"0000487560"	"11"	"70"	"17"	"7907445"	"7907445"	"subst"	"4.33351E-6"	"03335"	"GUCY2D_000073"	"g.7907445G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8004127G>A"	""	"likely pathogenic (recessive)"	""
"0000487561"	"0"	"70"	"17"	"7918305"	"7918305"	"subst"	"0"	"03335"	"GUCY2D_000075"	"g.7918305T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014987T>C"	""	"likely pathogenic (dominant)"	""
"0000563625"	"0"	"30"	"17"	"7906042"	"7906042"	"del"	"0"	"02327"	"GUCY2D_000076"	"g.7906042del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8002724del"	""	"likely benign"	""
"0000563626"	"0"	"10"	"17"	"7906476"	"7906476"	"subst"	"9.78148E-6"	"02330"	"GUCY2D_000077"	"g.7906476G>A"	""	""	""	"GUCY2D(NM_000180.4):c.111G>A (p.P37=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003158G>A"	""	"benign"	""
"0000563627"	"0"	"10"	"17"	"7906519"	"7906519"	"subst"	"0.416798"	"02330"	"GUCY2D_000001"	"g.7906519G>T"	""	""	""	"GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003201G>T"	""	"benign"	""
"0000563628"	"0"	"10"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"01943"	"GUCY2D_000028"	"g.7906529C>T"	""	""	""	"GUCY2D(NM_000180.3):c.164C>T (p.T55M), GUCY2D(NM_000180.4):c.164C>T (p.T55M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003211C>T"	""	"benign"	""
"0000563629"	"0"	"30"	"17"	"7906636"	"7906636"	"subst"	"0.00185869"	"01943"	"GUCY2D_000078"	"g.7906636G>C"	""	""	""	"GUCY2D(NM_000180.3):c.271G>C (p.A91P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003318G>C"	""	"likely benign"	""
"0000563630"	"0"	"30"	"17"	"7906734"	"7906734"	"subst"	"0.000977488"	"01943"	"GUCY2D_000029"	"g.7906734C>T"	""	""	""	"GUCY2D(NM_000180.3):c.369C>T (p.G123=), GUCY2D(NM_000180.4):c.369C>T (p.G123=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003416C>T"	""	"likely benign"	""
"0000563631"	"0"	"90"	"17"	"7906815"	"7906815"	"subst"	"0"	"02327"	"GUCY2D_000079"	"g.7906815G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003497G>A"	""	"pathogenic"	""
"0000563632"	"0"	"50"	"17"	"7906941"	"7906941"	"subst"	"2.80849E-5"	"02330"	"GUCY2D_000080"	"g.7906941C>A"	""	""	""	"GUCY2D(NM_000180.4):c.576C>A (p.D192E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003623C>A"	""	"VUS"	""
"0000563633"	"0"	"50"	"17"	"7907178"	"7907178"	"subst"	"0.000131387"	"02330"	"GUCY2D_000081"	"g.7907178A>C"	""	""	""	"GUCY2D(NM_000180.4):c.730A>C (p.M244L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003860A>C"	""	"VUS"	""
"0000563634"	"0"	"10"	"17"	"7907369"	"7907369"	"subst"	"0.000273102"	"02330"	"GUCY2D_000082"	"g.7907369C>T"	""	""	""	"GUCY2D(NM_000180.3):c.921C>T (p.A307=), GUCY2D(NM_000180.4):c.921C>T (p.A307=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8004051C>T"	""	"benign"	""
"0000563635"	"0"	"30"	"17"	"7907369"	"7907369"	"subst"	"0.000273102"	"01943"	"GUCY2D_000082"	"g.7907369C>T"	""	""	""	"GUCY2D(NM_000180.3):c.921C>T (p.A307=), GUCY2D(NM_000180.4):c.921C>T (p.A307=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8004051C>T"	""	"likely benign"	""
"0000563636"	"0"	"10"	"17"	"7907480"	"7907480"	"subst"	"0.000812351"	"02330"	"GUCY2D_000083"	"g.7907480C>T"	""	""	""	"GUCY2D(NM_000180.4):c.1026+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8004162C>T"	""	"benign"	""
"0000563642"	"0"	"50"	"17"	"7910445"	"7910445"	"subst"	"4.47031E-5"	"02330"	"GUCY2D_000084"	"g.7910445C>A"	""	""	""	"GUCY2D(NM_000180.4):c.1446C>A (p.F482L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8007127C>A"	""	"VUS"	""
"0000563643"	"0"	"50"	"17"	"7911301"	"7911301"	"subst"	"8.13994E-6"	"02330"	"GUCY2D_000085"	"g.7911301G>A"	""	""	""	"GUCY2D(NM_000180.4):c.1619G>A (p.R540H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8007983G>A"	""	"VUS"	""
"0000563644"	"0"	"30"	"17"	"7915539"	"7915539"	"subst"	"4.06316E-6"	"01943"	"GUCY2D_000086"	"g.7915539C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1827C>T (p.A609=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8012221C>T"	""	"likely benign"	""
"0000563645"	"0"	"50"	"17"	"7915870"	"7915870"	"subst"	"0.000134391"	"02330"	"GUCY2D_000087"	"g.7915870C>T"	""	""	""	"GUCY2D(NM_000180.4):c.2059C>T (p.H687Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8012552C>T"	""	"VUS"	""
"0000563646"	"0"	"50"	"17"	"7916486"	"7916486"	"subst"	"0.000349815"	"02330"	"GUCY2D_000036"	"g.7916486G>A"	""	""	""	"GUCY2D(NM_000180.3):c.2179G>A (p.G727S), GUCY2D(NM_000180.4):c.2179G>A (p.G727S, p.(Gly727Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8013168G>A"	""	"VUS"	""
"0000563648"	"0"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"02330"	"GUCY2D_000055"	"g.7917236C>T"	""	""	""	"GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8013918C>T"	""	"pathogenic"	""
"0000563649"	"0"	"50"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"01943"	"GUCY2D_000055"	"g.7917236C>T"	""	""	""	"GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8013918C>T"	""	"VUS"	""
"0000563650"	"0"	"10"	"17"	"7917905"	"7917905"	"subst"	"0.000589579"	"02330"	"GUCY2D_000088"	"g.7917905C>T"	""	""	""	"GUCY2D(NM_000180.4):c.2413-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8014587C>T"	""	"benign"	""
"0000563651"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"01943"	"GUCY2D_000058"	"g.7918019G>A"	""	""	""	"GUCY2D(NM_000180.3):c.2513G>A (p.R838H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000563654"	"0"	"50"	"17"	"7918352"	"7918352"	"subst"	"0"	"01943"	"GUCY2D_000090"	"g.7918352T>C"	""	""	""	"GUCY2D(NM_000180.3):c.2752T>C (p.S918P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8015034T>C"	""	"VUS"	""
"0000563655"	"0"	"70"	"17"	"7919141"	"7919141"	"subst"	"8.27719E-6"	"02327"	"GUCY2D_000091"	"g.7919141A>C"	""	""	""	"GUCY2D(NM_000180.4):c.3025A>C (p.M1009L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8015823A>C"	""	"likely pathogenic"	""
"0000563657"	"0"	"30"	"17"	"7923440"	"7923440"	"subst"	"0"	"01943"	"GUCY2D_000093"	"g.7923440C>T"	""	""	""	"GUCY2D(NM_000180.3):c.*25-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8020122C>T"	""	"likely benign"	""
"0000563658"	"0"	"30"	"17"	"7923441"	"7923441"	"subst"	"0"	"01943"	"GUCY2D_000094"	"g.7923441C>T"	""	""	""	"GUCY2D(NM_000180.3):c.*25-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8020123C>T"	""	"likely benign"	""
"0000604400"	"0"	"70"	"17"	"7915802"	"7915802"	"subst"	"0"	"03508"	"GUCY2D_000095"	"g.7915802A>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8012484A>C"	""	"likely pathogenic (recessive)"	""
"0000604401"	"21"	"70"	"17"	"7919100"	"7919100"	"subst"	"4.15673E-6"	"03508"	"GUCY2D_000099"	"g.7919100G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8015782G>A"	""	"likely pathogenic (recessive)"	""
"0000604483"	"3"	"70"	"17"	"7918249"	"7918249"	"del"	"0"	"03508"	"GUCY2D_000096"	"g.7918249del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	""
"0000604484"	"11"	"70"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"03508"	"GUCY2D_000097"	"g.7915789C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012471C>T"	""	"pathogenic (dominant)"	""
"0000604485"	"21"	"70"	"17"	"7919154"	"7919154"	"subst"	"0"	"03508"	"GUCY2D_000098"	"g.7919154G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015836G>A"	""	"likely pathogenic (dominant)"	""
"0000604486"	"11"	"70"	"17"	"7915802"	"7915802"	"subst"	"0"	"03508"	"GUCY2D_000095"	"g.7915802A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012484A>C"	""	"likely pathogenic (recessive)"	""
"0000604487"	"0"	"70"	"17"	"7918249"	"7918249"	"del"	"0"	"03508"	"GUCY2D_000096"	"g.7918249del"	""	""	""	"2649delT"	""	"Germline"	""	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	""
"0000604519"	"3"	"70"	"17"	"7918249"	"7918249"	"del"	"0"	"03508"	"GUCY2D_000096"	"g.7918249del"	""	""	""	"2649delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	""
"0000604520"	"11"	"70"	"17"	"7918249"	"7918249"	"del"	"0"	"03508"	"GUCY2D_000096"	"g.7918249del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	""
"0000604521"	"21"	"70"	"17"	"7919154"	"7919154"	"subst"	"0"	"03508"	"GUCY2D_000098"	"g.7919154G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015836G>A"	""	"likely pathogenic (recessive)"	""
"0000604522"	"11"	"70"	"17"	"7918694"	"7918694"	"subst"	"0"	"03508"	"GUCY2D_000101"	"g.7918694C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015376C>T"	""	"likely pathogenic (recessive)"	""
"0000604523"	"21"	"70"	"17"	"7919154"	"7919154"	"subst"	"0"	"03508"	"GUCY2D_000098"	"g.7919154G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015836G>A"	""	"likely pathogenic (recessive)"	""
"0000604524"	"11"	"70"	"17"	"7915502"	"7915502"	"subst"	"0"	"03508"	"GUCY2D_000014"	"g.7915502G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012184G>A"	""	"likely pathogenic (recessive)"	""
"0000604525"	"0"	"50"	"17"	"7910377"	"7910847"	"dup"	"0"	"03508"	"GUCY2D_000100"	"g.(7910033_7910377)_(7910847_7911248)dup"	""	""	""	"1379_1566dup"	""	"De novo"	""	""	"0"	""	""	"g.(8006715_8007059)_(8007529_8007930)dup"	""	"likely pathogenic (recessive)"	""
"0000604526"	"21"	"70"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"03508"	"GUCY2D_000097"	"g.7915789C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012471C>T"	""	"pathogenic (recessive)"	""
"0000604527"	"10"	"50"	"17"	"7919063"	"7919063"	"subst"	"0"	"03508"	"GUCY2D_000102"	"g.7919063C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.8015745C>A"	""	"VUS"	""
"0000604528"	"10"	"50"	"17"	"7919076"	"7919076"	"subst"	"0"	"03508"	"GUCY2D_000103"	"g.7919076G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.8015758G>C"	""	"VUS"	""
"0000604568"	"0"	"70"	"17"	"7919100"	"7919100"	"subst"	"4.15673E-6"	"03508"	"GUCY2D_000099"	"g.7919100G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.8015782G>A"	""	"likely pathogenic (recessive)"	""
"0000604569"	"0"	"50"	"17"	"7919244"	"7919244"	"subst"	"8.38286E-6"	"03508"	"GUCY2D_000104"	"g.7919244G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.8015926G>C"	""	"likely pathogenic (recessive)"	""
"0000616907"	"0"	"30"	"17"	"7909732"	"7909732"	"subst"	"4.21678E-6"	"01943"	"GUCY2D_000106"	"g.7909732G>A"	""	""	""	"GUCY2D(NM_000180.3):c.1078G>A (p.G360S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8006414G>A"	""	"likely benign"	""
"0000616908"	"0"	"30"	"17"	"7909890"	"7909890"	"subst"	"0.000730487"	"01943"	"GUCY2D_000033"	"g.7909890C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1236C>T (p.D412=), GUCY2D(NM_000180.4):c.1236C>T (p.D412=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8006572C>T"	""	"likely benign"	""
"0000616909"	"0"	"50"	"17"	"7909916"	"7909916"	"subst"	"0"	"01943"	"GUCY2D_000107"	"g.7909916A>G"	""	""	""	"GUCY2D(NM_000180.3):c.1262A>G (p.D421G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8006598A>G"	""	"VUS"	""
"0000616910"	"0"	"30"	"17"	"7910793"	"7910793"	"subst"	"0.000259953"	"01943"	"GUCY2D_000108"	"g.7910793C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1513C>T (p.L505=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8007475C>T"	""	"likely benign"	""
"0000616911"	"0"	"50"	"17"	"7915790"	"7915790"	"subst"	"0.000406303"	"01943"	"GUCY2D_000109"	"g.7915790G>A"	""	""	""	"GUCY2D(NM_000180.3):c.1979G>A (p.R660Q, p.(Arg660Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8012472G>A"	""	"VUS"	""
"0000616912"	"0"	"50"	"17"	"7917317"	"7917317"	"subst"	"4.06835E-6"	"01943"	"GUCY2D_000110"	"g.7917317C>T"	""	""	""	"GUCY2D(NM_000180.3):c.2383C>T (p.R795W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8013999C>T"	""	"VUS"	""
"0000623788"	"0"	"10"	"17"	"7909683"	"7909683"	"subst"	"0"	"02330"	"GUCY2D_000105"	"g.7909683C>T"	""	""	""	"GUCY2D(NM_000180.4):c.1029C>T (p.V343=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8006365C>T"	""	"benign"	""
"0000630990"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"03552"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weigell-Weber 2000:10676808}"	""	""	"detected in affected mother and child, not in asymptomathic grandmother"	"Germline"	"yes"	"rs61750173"	"0"	""	""	"g.8014701G>A"	"{CV:9357}"	"pathogenic (dominant)"	""
"0000649748"	"1"	"50"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"03575"	"GUCY2D_000028"	"g.7906529C>T"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs201414567}"	"Germline"	""	"rs201414567"	"0"	""	""	"g.8003211C>T"	""	"VUS"	""
"0000649749"	"1"	"70"	"17"	"7906781"	"7906781"	"subst"	"0"	"03575"	"GUCY2D_000111"	"g.7906781T>C"	"7/2734 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"7 heterozygous; {DB:CLININrs786205499}"	"Germline"	""	"rs786205499"	"0"	""	""	"g.8003463T>C"	""	"likely pathogenic"	""
"0000658293"	"0"	"30"	"17"	"7906507"	"7906507"	"subst"	"0"	"01943"	"GUCY2D_000112"	"g.7906507C>T"	""	""	""	"GUCY2D(NM_000180.3):c.142C>T (p.P48S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8003189C>T"	""	"likely benign"	""
"0000658294"	"0"	"10"	"17"	"7910863"	"7910863"	"subst"	"0.000888729"	"02330"	"GUCY2D_000113"	"g.7910863G>A"	""	""	""	"GUCY2D(NM_000180.4):c.1566+17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8007545G>A"	""	"benign"	""
"0000658295"	"0"	"50"	"17"	"7918713"	"7918713"	"subst"	"8.15022E-6"	"02327"	"GUCY2D_000114"	"g.7918713C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8015395C>T"	""	"VUS"	""
"0000668254"	"3"	"90"	"17"	"7918069"	"7918069"	"subst"	"0"	"00006"	"GUCY2D_000115"	"g.7918069C>T"	""	"{PMID:Makrythanasis 2014:25044680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014751C>T"	""	"pathogenic (recessive)"	""
"0000669429"	"3"	"70"	"17"	"7906781"	"7906781"	"subst"	"0"	"03575"	"GUCY2D_000111"	"g.7906781T>C"	"2/2734 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 homozygous; {DB:CLININrs786205499}"	"Germline"	""	"rs786205499"	"0"	""	""	"g.8003463T>C"	""	"likely pathogenic"	""
"0000681069"	"0"	"30"	"17"	"7906414"	"7906414"	"subst"	"2.67604E-5"	"01943"	"GUCY2D_000116"	"g.7906414T>C"	""	""	""	"GUCY2D(NM_000180.3):c.49T>C (p.C17R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681070"	"0"	"50"	"17"	"7907410"	"7907410"	"subst"	"0"	"02327"	"GUCY2D_000117"	"g.7907410T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000681071"	"0"	"30"	"17"	"7915650"	"7915650"	"subst"	"0.000187103"	"01943"	"GUCY2D_000035"	"g.7915650C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1938C>T (p.L646=), GUCY2D(NM_000180.4):c.1938C>T (p.L646=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681072"	"0"	"50"	"17"	"7915769"	"7915769"	"subst"	"4.06421E-6"	"02327"	"GUCY2D_000118"	"g.7915769G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000684390"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs61750172"	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000684391"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs61750172"	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000684392"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs61750172"	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000684393"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs61750172"	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000684394"	"1"	"70"	"17"	"7918347"	"7918347"	"subst"	"0"	"00004"	"GUCY2D_000019"	"g.7918347T>C"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015029T>C"	""	"likely pathogenic (dominant)"	""
"0000684530"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	"5/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000684652"	"3"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00004"	"GUCY2D_000055"	"g.7917236C>T"	"2/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic (recessive)"	""
"0000684676"	"1"	"70"	"17"	"7918249"	"7918249"	"del"	"0"	"00004"	"GUCY2D_000096"	"g.7918249del"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	"c.2649delT"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000684677"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00004"	"GUCY2D_000058"	"g.7918019G>A"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000684708"	"0"	"50"	"17"	"7918767"	"7918767"	"subst"	"0"	"00004"	"GUCY2D_000125"	"g.7918767G>T"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000684799"	"0"	"30"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00004"	"GUCY2D_000028"	"g.7906529C>T"	"frequency 0.015"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.8003211C>T"	""	"likely benign"	""
"0000685231"	"0"	"90"	"17"	"7906754"	"7906754"	"del"	"0"	"00004"	"GUCY2D_000066"	"g.7906754del"	"9/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685232"	"0"	"90"	"17"	"7906754"	"7906754"	"del"	"0"	"00004"	"GUCY2D_000066"	"g.7906754del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685233"	"0"	"70"	"17"	"7912827"	"7912827"	"subst"	"8.5273E-5"	"00004"	"GUCY2D_000119"	"g.7912827G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685234"	"0"	"70"	"17"	"7915803"	"7915803"	"subst"	"0"	"00004"	"GUCY2D_000120"	"g.7915803T>G"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685235"	"0"	"90"	"17"	"7916436"	"7916436"	"subst"	"0"	"00004"	"GUCY2D_000021"	"g.7916436C>T"	"5/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685236"	"0"	"70"	"17"	"7917237"	"7917237"	"subst"	"8.12678E-6"	"00004"	"GUCY2D_000056"	"g.7917237G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685237"	"0"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	"6/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685238"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00004"	"GUCY2D_000058"	"g.7918019G>A"	"4/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685239"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00004"	"GUCY2D_000058"	"g.7918019G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685240"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00004"	"GUCY2D_000058"	"g.7918019G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685241"	"0"	"70"	"17"	"7918027"	"7918027"	"subst"	"0"	"00004"	"GUCY2D_000121"	"g.7918027G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685242"	"0"	"70"	"17"	"7918044"	"7918044"	"subst"	"0"	"00004"	"GUCY2D_000122"	"g.7918044G>C"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685243"	"0"	"70"	"17"	"7918218"	"7918218"	"subst"	"0"	"00004"	"GUCY2D_000123"	"g.7918218C>G"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685244"	"0"	"70"	"17"	"7918304"	"7918304"	"subst"	"0"	"00004"	"GUCY2D_000124"	"g.7918304G>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685831"	"0"	"70"	"17"	"7909792"	"7909792"	"subst"	"0.000443155"	"00006"	"GUCY2D_000126"	"g.7909792C>T"	""	"{PMID:Jinda 2014:24618324}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000685842"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Lazar 2015:25515582}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic (dominant)"	""
"0000685843"	"1"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00004"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Lazar 2015:25515582}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000685844"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00004"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Lazar 2015:25515582}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic (dominant)"	""
"0000685845"	"1"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00004"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Lazar 2015:25515582}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000685846"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00004"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Lazar 2015:25515582}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000685847"	"0"	"90"	"17"	"7918044"	"7918044"	"subst"	"0"	"00004"	"GUCY2D_000122"	"g.7918044G>C"	""	"{PMID:Lazar 2015:25515582}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000685848"	"1"	"90"	"17"	"7918027"	"7918027"	"subst"	"0"	"00004"	"GUCY2D_000121"	"g.7918027G>A"	""	"{PMID:Lazar 2015:25515582}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (!)"	""
"0000692515"	"0"	"30"	"17"	"7910798"	"7910798"	"subst"	"3.24963E-5"	"01943"	"GUCY2D_000127"	"g.7910798C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1518C>T (p.T506=), GUCY2D(NM_000180.4):c.1518C>T (p.T506=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692516"	"0"	"50"	"17"	"7916571"	"7916571"	"subst"	"0"	"01943"	"GUCY2D_000128"	"g.7916571G>A"	""	""	""	"GUCY2D(NM_000180.3):c.2263+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000710234"	"1"	"70"	"17"	"7907430"	"7907430"	"subst"	"0"	"00006"	"GUCY2D_000072"	"g.7907430G>C"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PM2, PM3, PP1, PP4"	"Germline"	""	""	"0"	""	""	"g.8004112G>C"	""	"likely pathogenic"	"ACMG"
"0000710236"	"3"	"90"	"17"	"7909811"	"7909811"	"del"	"0"	"00006"	"GUCY2D_000074"	"g.7909811del"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"1157delA"	"ACMG PVS1, PM2, PP4"	"Germline"	""	""	"0"	""	""	"g.8006493del"	""	"pathogenic"	"ACMG"
"0000710238"	"3"	"90"	"17"	"7906754"	"7906754"	"del"	"0"	"00006"	"GUCY2D_000066"	"g.7906754del"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"389delC"	""	"Germline"	""	""	"0"	""	""	"g.8003436del"	""	"pathogenic"	""
"0000710280"	"1"	"70"	"17"	"7918305"	"7918305"	"subst"	"0"	"00006"	"GUCY2D_000075"	"g.7918305T>C"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PM1, PM2, PP1, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.8014987T>C"	""	"likely pathogenic"	"ACMG"
"0000710315"	"3"	"90"	"17"	"7907362"	"7907362"	"del"	"0"	"00006"	"GUCY2D_000024"	"g.7907362del"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"914delA"	""	"Germline"	""	""	"0"	""	""	"g.8004044del"	""	"pathogenic"	""
"0000710339"	"2"	"70"	"17"	"7907445"	"7907445"	"subst"	"4.33351E-6"	"00006"	"GUCY2D_000073"	"g.7907445G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PM2, PM3, PP1, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.8004127G>A"	""	"likely pathogenic"	"ACMG"
"0000713275"	"0"	"70"	"17"	"7907346"	"7907353"	"del"	"0"	"00000"	"GUCY2D_000131"	"g.7907346_7907353del"	""	"{PMID:Carss 2017:28041643}"	""	"17:7907345CCAGCTTCG>C ENST00000254854.4:c.901_908delCTTCGCAG (Leu301GlyfsTer15)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000713343"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Carss 2017:28041643}"	""	"17:7918019G>A ENST00000254854.4:c.2513G>A (Arg838His)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000713381"	"3"	"90"	"17"	"7919300"	"7919301"	"ins"	"0"	"00000"	"GUCY2D_000134"	"g.7919300_7919301insCGTGCTCT"	""	"{PMID:Carss 2017:28041643}"	""	"17:7919299C>CCGTGCTCT ENST00000254854.4:c.3098_3099insCGTGCTCT (Gly1034ValfsTer15)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713413"	"1"	"90"	"17"	"7906603"	"7906617"	"del"	"0"	"00000"	"GUCY2D_000129"	"g.7906603_7906617del"	""	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"17:7906590GGCCGCCCGCCTGGCC>G ENST00000254854.4:c.238_252delGCCGCCGCCCGCCTG (Ala80_Leu84del)"	""	"Germline"	""	""	"0"	""	""	"g.8003285_8003299del"	""	"pathogenic (recessive)"	""
"0000713761"	"2"	"90"	"17"	"7906672"	"7906672"	"subst"	"0"	"00000"	"GUCY2D_000130"	"g.7906672G>A"	""	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"17:7906672G>A ENST00000254854.4:c.307G>A (Glu103Lys)"	""	"Germline"	""	""	"0"	""	""	"g.8003354G>A"	""	"pathogenic (recessive)"	""
"0000714033"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000714062"	"2"	"70"	"17"	"7918195"	"7918195"	"del"	"4.06124E-6"	"00000"	"GUCY2D_000132"	"g.7918195del"	""	"{PMID:Taylor 2017:28341476}"	""	"2595delG"	""	"Germline"	""	""	"0"	""	""	"g.8014877del"	""	"likely pathogenic (recessive)"	""
"0000714101"	"1"	"70"	"17"	"7918713"	"7918713"	"subst"	"0"	"00000"	"GUCY2D_000133"	"g.7918713C>A"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015395C>A"	""	"likely pathogenic (recessive)"	""
"0000729754"	"0"	"70"	"17"	"7906879"	"7906879"	"subst"	"0"	"00000"	"GUCY2D_000136"	"g.7906879C>T"	""	"{PMID:Maeda 2018:29785639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003561C>T"	""	"likely pathogenic"	""
"0000730671"	"1"	"90"	"17"	"7917998"	"7917998"	"subst"	"0"	"00000"	"GUCY2D_000138"	"g.7917998T>C"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014680T>C"	""	"pathogenic (dominant)"	""
"0000730672"	"1"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic (dominant)"	""
"0000730673"	"3"	"90"	"17"	"7906745"	"7906745"	"subst"	"0"	"00000"	"GUCY2D_000135"	"g.7906745C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003427C>T"	""	"pathogenic (dominant)"	""
"0000730674"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic (dominant)"	""
"0000730675"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic (dominant)"	""
"0000730676"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic (dominant)"	""
"0000730820"	"1"	"30"	"17"	"7911300"	"7911300"	"subst"	"4.88432E-5"	"00000"	"GUCY2D_000137"	"g.7911300C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8007982C>T"	""	"likely benign"	""
"0000730994"	"1"	"70"	"17"	"7915891"	"7915891"	"subst"	"8.166E-6"	"00000"	"GUCY2D_000142"	"g.7915891C>T"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs61750164"	"0"	""	""	"g.8012573C>T"	""	"likely pathogenic (recessive)"	""
"0000731051"	"2"	"70"	"17"	"7907457"	"7907458"	"ins"	"0"	"00000"	"GUCY2D_000139"	"g.7907457_7907458insCAGCAGCT"	""	"{PMID:Bryant 2018:29343940}"	""	"p.Asp337Alafs*61 (Pro335_Ser336 insSer in cis)"	""	"Germline"	""	""	"0"	""	""	"g.8004139_8004140insCAGCAGCT"	""	"likely pathogenic (recessive)"	""
"0000731100"	"0"	"50"	"17"	"7919783"	"7919783"	"subst"	"0"	"00000"	"GUCY2D_000146"	"g.7919783C>A"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8016465C>A"	""	"VUS"	""
"0000731137"	"3"	"90"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000731260"	"21"	"70"	"17"	"7906672"	"7906672"	"subst"	"0"	"00000"	"GUCY2D_000130"	"g.7906672G>A"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003354G>A"	""	"likely pathogenic (recessive)"	""
"0000731261"	"21"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic (recessive)"	""
"0000731262"	"21"	"70"	"17"	"7906456"	"7906456"	"dup"	"0"	"00000"	"GUCY2D_000140"	"g.7906456dup"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003138dup"	""	"likely pathogenic (recessive)"	""
"0000731263"	"21"	"70"	"17"	"7918246"	"7918246"	"subst"	"0"	"00000"	"GUCY2D_000144"	"g.7918246C>G"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014928C>G"	""	"likely pathogenic (recessive)"	""
"0000731264"	"3"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic (recessive)"	""
"0000731283"	"11"	"70"	"17"	"7918195"	"7918195"	"del"	"4.06124E-6"	"00000"	"GUCY2D_000132"	"g.7918195del"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014877del"	""	"likely pathogenic (recessive)"	""
"0000731284"	"11"	"70"	"17"	"7918022"	"7918022"	"del"	"4.06101E-6"	"00000"	"GUCY2D_000143"	"g.7918022del"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014704del"	""	"likely pathogenic (recessive)"	""
"0000731285"	"11"	"70"	"17"	"7906672"	"7906672"	"subst"	"0"	"00000"	"GUCY2D_000130"	"g.7906672G>A"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003354G>A"	""	"likely pathogenic (recessive)"	""
"0000731286"	"11"	"70"	"17"	"7917317"	"7917317"	"subst"	"4.06835E-6"	"00000"	"GUCY2D_000110"	"g.7917317C>T"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013999C>T"	""	"likely pathogenic (recessive)"	""
"0000731306"	"11"	"70"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"00000"	"GUCY2D_000097"	"g.7915789C>T"	""	"{PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012471C>T"	""	"likely pathogenic (recessive)"	""
"0000731307"	"11"	"90"	"17"	"7915802"	"7915802"	"subst"	"0"	"00000"	"GUCY2D_000095"	"g.7915802A>C"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012484A>C"	""	"pathogenic (recessive)"	""
"0000731308"	"3"	"90"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Rim 2017:29145603}"	""	"2649delT"	""	"Germline"	""	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	""
"0000731309"	"11"	"90"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	"2649delT"	""	"Germline"	""	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	""
"0000731310"	"11"	"70"	"17"	"7918694"	"7918694"	"subst"	"0"	"00000"	"GUCY2D_000101"	"g.7918694C>T"	""	"{PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015376C>T"	""	"likely pathogenic (recessive)"	""
"0000731334"	"21"	"70"	"17"	"7919154"	"7919154"	"subst"	"0"	"00000"	"GUCY2D_000098"	"g.7919154G>A"	""	"{PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015836G>A"	""	"likely pathogenic (recessive)"	""
"0000731335"	"21"	"90"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	"2649delT"	""	"Germline"	""	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	""
"0000731336"	"21"	"70"	"17"	"7919154"	"7919154"	"subst"	"0"	"00000"	"GUCY2D_000098"	"g.7919154G>A"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015836G>A"	""	"likely pathogenic (recessive)"	""
"0000731337"	"21"	"70"	"17"	"7919154"	"7919154"	"subst"	"0"	"00000"	"GUCY2D_000098"	"g.7919154G>A"	""	"{PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015836G>A"	""	"likely pathogenic (recessive)"	""
"0000731435"	"3"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic (recessive)"	""
"0000731445"	"3"	"70"	"17"	"7912823"	"7912823"	"subst"	"4.06068E-6"	"00000"	"GUCY2D_000141"	"g.7912823G>A"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8009505G>A"	""	"likely pathogenic (recessive)"	""
"0000731483"	"3"	"90"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"pathogenic (recessive)"	""
"0000731484"	"3"	"90"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"pathogenic (recessive)"	""
"0000732446"	"0"	"90"	"17"	"7916486"	"7916486"	"subst"	"0.000349815"	"00000"	"GUCY2D_000036"	"g.7916486G>A"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013168G>A"	""	"pathogenic"	""
"0000732483"	"0"	"50"	"17"	"7918365"	"7918365"	"subst"	"0"	"00000"	"GUCY2D_000150"	"g.7918365A>G"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015047A>G"	""	"VUS"	""
"0000732560"	"0"	"90"	"17"	"7917309"	"7917309"	"subst"	"2.84669E-5"	"00000"	"GUCY2D_000147"	"g.7917309C>T"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	"rs763774686"	"0"	""	""	"g.8013991C>T"	""	"pathogenic"	""
"0000732579"	"0"	"50"	"17"	"7912879"	"7912879"	"subst"	"0.00390235"	"00000"	"GUCY2D_000003"	"g.7912879C>T"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	"rs28743021"	"0"	""	""	"g.8009561C>T"	""	"VUS"	""
"0000732616"	"0"	"90"	"17"	"7919066"	"7919066"	"subst"	"0"	"00000"	"GUCY2D_000151"	"g.7919066T>C"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015748T>C"	""	"pathogenic"	""
"0000732818"	"0"	"70"	"17"	"7918055"	"7918056"	"del"	"4.06362E-6"	"00000"	"GUCY2D_000149"	"g.7918055_7918056del"	""	"{PMID:Stone 2017:28559085}"	""	"2549_2550delAC"	""	"Germline"	""	""	"0"	""	""	"g.8014737_8014738del"	""	"likely pathogenic"	""
"0000732864"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000732865"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000733160"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000734699"	"0"	"70"	"17"	"7909792"	"7909792"	"subst"	"0.000443155"	"00000"	"GUCY2D_000126"	"g.7909792C>T"	""	"{PMID:Jinda 2017:28453600}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8006474C>T"	""	"likely pathogenic (recessive)"	""
"0000735621"	"3"	"90"	"17"	"7917237"	"7917237"	"subst"	"8.12678E-6"	"00000"	"GUCY2D_000056"	"g.7917237G>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013919G>A"	""	"pathogenic"	""
"0000735622"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000735623"	"0"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000735624"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000735625"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000735626"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000735743"	"2"	"90"	"17"	"7909993"	"7909993"	"subst"	"0"	"00000"	"GUCY2D_000049"	"g.7909993C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8006675C>T"	""	"pathogenic"	""
"0000735818"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000735819"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000735901"	"3"	"70"	"17"	"7919320"	"7919320"	"subst"	"0"	"02485"	"GUCY2D_000156"	"g.7919320G>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8016002G>A"	""	"likely pathogenic"	""
"0000735929"	"0"	"70"	"17"	"7906525"	"7906525"	"subst"	"0"	"02485"	"GUCY2D_000153"	"g.7906525T>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003207T>A"	""	"likely pathogenic"	""
"0000735930"	"0"	"70"	"17"	"7915624"	"7915624"	"subst"	"0"	"02485"	"GUCY2D_000155"	"g.7915624C>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012306C>A"	""	"likely pathogenic"	""
"0000736356"	"1"	"70"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Booij 2005:16272259}"	""	"Pro701Ser"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000736359"	"1"	"70"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Booij 2005:16272259}"	""	"Pro1069ArgfsX37"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000736360"	"1"	"70"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Booij 2005:16272259}"	""	"Pro701Ser"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000736361"	"1"	"70"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Booij 2005:16272259}"	""	"Arg768Trp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000736362"	"1"	"10"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Booij 2005:16272259}"	""	"2011C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736363"	"1"	"10"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Yamanoshita 2005:22008105}; {PMID:Booij 2005:16272259}"	""	"2419C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736364"	"1"	"10"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Yamanoshita 2005:22008105}; {PMID:Booij 2005:16272259}"	""	"3528C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736365"	"1"	"10"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"{PMID:Booij 2005:16272259}"	""	"814C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736366"	"1"	"10"	"17"	"0"	"0"	""	"0"	"00008"	"MYH2_000008"	"g.?"	""	"Perrault 1996; {PMID:Booij 2005:16272259}"	""	"227G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736375"	"1"	"10"	"17"	"7916489"	"7916489"	"subst"	"8.13213E-6"	"00008"	"GUCY2D_000017"	"g.7916489G>A"	""	"{PMID:Yamanoshita 2005:22008105}; {PMID:Booij 2005:16272259}"	""	"2182G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736376"	"1"	"10"	"17"	"7906499"	"7906499"	"subst"	"0"	"00008"	"GUCY2D_000152"	"g.7906499T>C"	""	"{PMID:Loyer 1998:9580558}; {PMID:Booij 2005:16272259}"	""	"134T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736377"	"1"	"10"	"17"	"7907344"	"7907344"	"subst"	"0"	"00008"	"GUCY2D_000154"	"g.7907344G>T"	""	"{PMID:Yamanoshita 2005:22008105}; {PMID:Booij 2005:16272259}"	""	"IVS13+37G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000736387"	"1"	"90"	"17"	"7912849"	"7912849"	"subst"	"0"	"00008"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Yzer 2006:16505055}"	""	"p.F565S"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736388"	"2"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00008"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer 2006:16505055}"	""	"p.R768W"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736389"	"1"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00008"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer 2006:16505055}"	""	"p.R768W"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736390"	"2"	"90"	"17"	"7918713"	"7918713"	"subst"	"8.15022E-6"	"00008"	"GUCY2D_000114"	"g.7918713C>T"	""	"{PMID:Yzer 2006:16505055}"	""	"p.A946V"	"93 anonymous healthy Dutch control individuals"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736391"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00008"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer 2006:16505055}"	""	"p.R768W"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736392"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00008"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer 2006:16505055}"	""	"p.R768W"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736393"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00008"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer 2006:16505055}"	""	"p.R768W"	""	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736394"	"3"	"90"	"17"	"7912849"	"7912849"	"subst"	"0"	"00008"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Yzer 2006:16505055}"	""	"p.F565S"	""	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736836"	"0"	"50"	"17"	"7906494"	"7906499"	"del"	"0"	"00000"	"GUCY2D_000027"	"g.7906494_7906499del"	"2/486 individuals"	"{PMID:Sergouniotis 2016:27628848}"	""	""	"no genotypes reported"	"Germline"	""	"rs552184470"	"0"	""	""	"g.8003176_8003181del"	""	"VUS"	""
"0000759829"	"3"	"70"	"17"	"7906771"	"7906771"	"subst"	"0"	"00000"	"GUCY2D_000157"	"g.7906771G>C"	""	"{PMID:Wang 2016:27422788}"	""	"c.G406C p.A136P"	""	"Germline"	""	""	"0"	""	""	"g.8003453G>C"	""	"likely pathogenic"	""
"0000759830"	"1"	"70"	"17"	"7907200"	"7907200"	"subst"	"0"	"00000"	"GUCY2D_000159"	"g.7907200T>C"	""	"{PMID:Wang 2016:27422788}"	""	"c.T752C p.L251P"	""	"Germline"	""	""	"0"	""	""	"g.8003882T>C"	""	"likely pathogenic"	""
"0000759831"	"1"	"70"	"17"	"7915627"	"7915627"	"subst"	"8.12599E-6"	"00000"	"GUCY2D_000163"	"g.7915627G>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.G1915T p.D639Y"	""	"Germline"	""	""	"0"	""	""	"g.8012309G>T"	""	"likely pathogenic"	""
"0000759832"	"1"	"70"	"17"	"7909865"	"7909865"	"subst"	"0"	"00000"	"GUCY2D_000162"	"g.7909865T>C"	""	"{PMID:Wang 2016:27422788}"	""	"c.T1211C p.L404P"	""	"Germline"	""	""	"0"	""	""	"g.8006547T>C"	""	"likely pathogenic"	""
"0000759833"	"1"	"70"	"17"	"7917290"	"7917290"	"subst"	"0"	"00000"	"GUCY2D_000165"	"g.7917290C>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.C2356T p.Q786X"	""	"Germline"	""	""	"0"	""	""	"g.8013972C>T"	""	"likely pathogenic"	""
"0000759834"	"1"	"70"	"17"	"7918243"	"7918244"	"del"	"0"	"00000"	"GUCY2D_000168"	"g.7918243_7918244del"	""	"{PMID:Wang 2016:27422788}"	""	"c.2642_2643del p.L881fs"	""	"Germline"	""	""	"0"	""	""	"g.8014925_8014926del"	""	"likely pathogenic"	""
"0000759864"	"2"	"70"	"17"	"7907383"	"7907383"	"subst"	"2.08692E-5"	"00000"	"GUCY2D_000160"	"g.7907383C>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.C935T p.T312M"	""	"Germline"	""	""	"0"	""	""	"g.8004065C>T"	""	"likely pathogenic"	""
"0000759865"	"2"	"70"	"17"	"7916570"	"7916570"	"subst"	"0"	"00000"	"GUCY2D_000164"	"g.7916570G>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.G2263T p.E755X"	""	"Germline"	""	""	"0"	""	""	"g.8013252G>T"	""	"likely pathogenic"	""
"0000759866"	"2"	"70"	"17"	"7917298"	"7917298"	"subst"	"0"	"00000"	"GUCY2D_000166"	"g.7917298G>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.G2364A p.W788X"	""	"Germline"	""	""	"0"	""	""	"g.8013980G>A"	""	"likely pathogenic"	""
"0000759867"	"2"	"70"	"17"	"7918644"	"7918644"	"subst"	"0"	"00000"	"GUCY2D_000169"	"g.7918644A>G"	""	"{PMID:Wang 2016:27422788}"	""	"c.2770-2A > G NA"	""	"Germline"	""	""	"0"	""	""	"g.8015326A>G"	""	"likely pathogenic"	""
"0000759868"	"2"	"70"	"17"	"7907086"	"7907086"	"subst"	"8.87721E-6"	"00000"	"GUCY2D_000158"	"g.7907086G>C"	""	"{PMID:Wang 2016:27422788}"	""	"c.G721C p.A241P"	""	"Germline"	""	""	"0"	""	""	"g.8003768G>C"	""	"likely pathogenic"	""
"0000760129"	"0"	"50"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00006"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Abdulridha-Aboud 2016:27212874}"	""	"P701S"	"this variant is present in 1 unaffected (FamBPatI2"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000760138"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000760139"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000760145"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2944+1delG"	""	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000760184"	"0"	"50"	"17"	"7919559"	"7919559"	"subst"	"0"	"00000"	"GUCY2D_000171"	"g.7919559A>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8016241A>T"	""	"VUS"	""
"0000760187"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2944+1delG"	""	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000760192"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2944+1delG"	""	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000760202"	"3"	"70"	"17"	"7918737"	"7918737"	"subst"	"8.13431E-6"	"00000"	"GUCY2D_000170"	"g.7918737T>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015419T>C"	""	"likely pathogenic"	""
"0000760218"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2944+1delG"	""	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000760230"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2944+1delG"	""	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000760231"	"0"	"50"	"17"	"7906745"	"7906745"	"subst"	"0"	"00000"	"GUCY2D_000135"	"g.7906745C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003427C>T"	""	"VUS"	""
"0000760314"	"0"	"70"	"17"	"7918017"	"7918018"	"delins"	"0"	"00000"	"GUCY2D_000167"	"g.7918017_7918018delinsCA"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014699_8014700delinsCA"	""	"likely pathogenic"	""
"0000760436"	"0"	"70"	"17"	"7909706"	"7909706"	"subst"	"8.47558E-6"	"00000"	"GUCY2D_000161"	"g.7909706A>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8006388A>G"	""	"likely pathogenic"	""
"0000760460"	"0"	"70"	"17"	"7918195"	"7918195"	"del"	"4.06124E-6"	"00000"	"GUCY2D_000132"	"g.7918195del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2595delG"	""	"Germline"	""	""	"0"	""	""	"g.8014877del"	""	"likely pathogenic"	""
"0000763874"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00006"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Xiao 2011:22194653}, {PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000763875"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00006"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Huang 2013:23563732}, {PMID:Huang 2016:26992781}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000763876"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00006"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000763877"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00006"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000763878"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00006"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Huang 2013:23563732}, {PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000764026"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Oishi 2016:26957898}"	""	""	""	"Germline"	""	"rs61750172"	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000764054"	"3"	"70"	"17"	"7915474"	"7915474"	"subst"	"0"	"00000"	"GUCY2D_000172"	"g.7915474C>T"	""	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8012156C>T"	""	"likely pathogenic"	""
"0000764894"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000765440"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000765744"	"0"	"70"	"17"	"7906781"	"7906781"	"subst"	"0"	"00000"	"GUCY2D_000111"	"g.7906781T>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003463T>C"	""	"likely pathogenic"	""
"0000765814"	"0"	"70"	"17"	"7917219"	"7917219"	"del"	"0"	"00000"	"GUCY2D_000174"	"g.7917219del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013901del"	""	"likely pathogenic"	""
"0000765889"	"0"	"70"	"17"	"7906892"	"7906892"	"subst"	"0"	"00000"	"GUCY2D_000173"	"g.7906892T>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003574T>C"	""	"likely pathogenic"	""
"0000765903"	"0"	"70"	"17"	"7907362"	"7907362"	"del"	"0"	"00000"	"GUCY2D_000024"	"g.7907362del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8004044del"	""	"likely pathogenic"	""
"0000783269"	"3"	"90"	"17"	"7907442"	"7907442"	"del"	"0"	"00000"	"GUCY2D_000008"	"g.7907442del"	""	"{PMID:Srilekha 2015:26147992}"	""	"994delC"	""	"Germline"	""	""	"0"	""	""	"g.8004124del"	""	"pathogenic (recessive)"	""
"0000783793"	"3"	"90"	"17"	"7919136"	"7919136"	"subst"	"0"	"00000"	"GUCY2D_000190"	"g.7919136C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015818C>T"	""	"pathogenic"	""
"0000783794"	"1"	"90"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"00000"	"GUCY2D_000097"	"g.7915789C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012471C>T"	""	"pathogenic"	""
"0000783815"	"1"	"90"	"17"	"7915925"	"7915925"	"subst"	"0"	"00000"	"GUCY2D_000184"	"g.7915925G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012607G>A"	""	"pathogenic"	""
"0000783816"	"3"	"90"	"17"	"7917987"	"7917987"	"subst"	"0"	"00000"	"GUCY2D_000186"	"g.7917987C>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014669C>G"	""	"pathogenic"	""
"0000783817"	"1"	"90"	"17"	"7906447"	"7906447"	"dup"	"0"	"00000"	"GUCY2D_000175"	"g.7906447dup"	""	"{PMID:Wang 2015:26047050}"	""	"82_83insC"	""	"Germline"	""	""	"0"	""	""	"g.8003129dup"	""	"pathogenic"	""
"0000783818"	"1"	"90"	"17"	"7907297"	"7907297"	"subst"	"0"	"00000"	"GUCY2D_000177"	"g.7907297C>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003979C>A"	""	"pathogenic"	""
"0000783852"	"1"	"50"	"17"	"7915850"	"7915850"	"subst"	"0"	"00000"	"GUCY2D_000183"	"g.7915850T>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012532T>A"	""	"VUS"	""
"0000783853"	"1"	"50"	"17"	"7909724"	"7909724"	"subst"	"0"	"00000"	"GUCY2D_000180"	"g.7909724T>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8006406T>G"	""	"VUS"	""
"0000783854"	"1"	"50"	"17"	"7907283"	"7907283"	"subst"	"4.06841E-6"	"00000"	"GUCY2D_000176"	"g.7907283G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003965G>A"	""	"VUS"	""
"0000783855"	"1"	"50"	"17"	"7907383"	"7907383"	"subst"	"2.08692E-5"	"00000"	"GUCY2D_000160"	"g.7907383C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8004065C>T"	""	"VUS"	""
"0000783856"	"1"	"50"	"17"	"7919100"	"7919100"	"subst"	"0"	"00000"	"GUCY2D_000189"	"g.7919100G>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015782G>T"	""	"VUS"	""
"0000783857"	"1"	"50"	"17"	"7917918"	"7917918"	"subst"	"0"	"00000"	"GUCY2D_000185"	"g.7917918G>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014600G>C"	""	"VUS"	""
"0000783858"	"1"	"50"	"17"	"7918083"	"7918083"	"subst"	"4.07691E-6"	"00000"	"GUCY2D_000071"	"g.7918083G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014765G>A"	""	"VUS"	""
"0000783870"	"1"	"50"	"17"	"7907383"	"7907383"	"subst"	"0"	"00000"	"GUCY2D_000178"	"g.7907383C>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8004065C>G"	""	"VUS"	""
"0000783902"	"2"	"90"	"17"	"7918737"	"7918737"	"subst"	"8.13431E-6"	"00000"	"GUCY2D_000170"	"g.7918737T>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015419T>C"	""	"pathogenic"	""
"0000783917"	"2"	"90"	"17"	"7919136"	"7919136"	"subst"	"0"	"00000"	"GUCY2D_000190"	"g.7919136C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015818C>T"	""	"pathogenic"	""
"0000783918"	"2"	"90"	"17"	"7917237"	"7917237"	"subst"	"8.12678E-6"	"00000"	"GUCY2D_000056"	"g.7917237G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013919G>A"	""	"pathogenic"	""
"0000783919"	"2"	"90"	"17"	"7909770"	"7909773"	"dup"	"0"	"00000"	"GUCY2D_000181"	"g.7909770_7909773dup"	""	"{PMID:Wang 2015:26047050}"	""	"1119_1120insGGTG"	""	"Germline"	""	""	"0"	""	""	"g.8006452_8006455dup"	""	"pathogenic"	""
"0000783946"	"2"	"50"	"17"	"7918680"	"7918680"	"subst"	"4.10725E-6"	"00000"	"GUCY2D_000188"	"g.7918680C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015362C>T"	""	"VUS"	""
"0000783947"	"2"	"50"	"17"	"7915819"	"7915819"	"subst"	"8.12665E-6"	"00000"	"GUCY2D_000182"	"g.7915819C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012501C>T"	""	"VUS"	""
"0000783948"	"2"	"50"	"17"	"7919550"	"7919550"	"subst"	"0"	"00000"	"GUCY2D_000192"	"g.7919550C>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8016232C>G"	""	"VUS"	""
"0000783949"	"2"	"50"	"17"	"7907443"	"7907443"	"subst"	"0"	"00000"	"GUCY2D_000179"	"g.7907443G>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8004125G>C"	""	"VUS"	""
"0000783950"	"2"	"50"	"17"	"7918082"	"7918082"	"subst"	"1.2222E-5"	"00000"	"GUCY2D_000187"	"g.7918082C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014764C>T"	""	"VUS"	""
"0000783951"	"2"	"50"	"17"	"7919257"	"7919257"	"subst"	"0"	"00000"	"GUCY2D_000191"	"g.7919257A>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015939A>G"	""	"VUS"	""
"0000783952"	"2"	"50"	"17"	"7919153"	"7919153"	"subst"	"0"	"00000"	"GUCY2D_000015"	"g.7919153G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015835G>A"	""	"VUS"	""
"0000785389"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic (dominant)"	""
"0000785455"	"3"	"90"	"17"	"7917217"	"7917217"	"del"	"0"	"00000"	"GUCY2D_000193"	"g.7917217del"	""	"{PMID:Maria 2015:25775262}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013899del"	""	"pathogenic (recessive)"	""
"0000787759"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00006"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Duncker 2015:25283059}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000788530"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Watson 2014:25133751}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000788550"	"3"	"70"	"17"	"7910400"	"7910400"	"dup"	"0"	"00000"	"GUCY2D_000194"	"g.7910400dup"	""	"{PMID:Khan 2014:24997176}"	""	"1401dupT"	""	"Germline"	""	""	"0"	""	""	"g.8007082dup"	""	"likely pathogenic (recessive)"	""
"0000788552"	"3"	"70"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"00000"	"GUCY2D_000097"	"g.7915789C>T"	""	"{PMID:Khan 2014:24997176}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012471C>T"	""	"likely pathogenic (recessive)"	""
"0000788553"	"3"	"70"	"17"	"7910400"	"7910400"	"dup"	"0"	"00000"	"GUCY2D_000194"	"g.7910400dup"	""	"{PMID:Khan 2014:24997176}"	""	"1401dupT"	""	"Germline"	""	""	"0"	""	""	"g.8007082dup"	""	"likely pathogenic (recessive)"	""
"0000788556"	"3"	"70"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"00000"	"GUCY2D_000097"	"g.7915789C>T"	""	"{PMID:Khan 2014:24997176}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012471C>T"	""	"likely pathogenic (recessive)"	""
"0000788561"	"3"	"70"	"17"	"7917219"	"7917219"	"del"	"0"	"00000"	"GUCY2D_000174"	"g.7917219del"	""	"{PMID:Khan 2014:24997176}"	""	"2285delG"	""	"Germline"	""	""	"0"	""	""	"g.8013901del"	""	"likely pathogenic (recessive)"	""
"0000788596"	"1"	"50"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"VUS"	""
"0000788597"	"1"	"50"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"VUS"	""
"0000788598"	"1"	"50"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"VUS"	""
"0000788599"	"1"	"50"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"VUS"	""
"0000788600"	"1"	"50"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"VUS"	""
"0000788601"	"1"	"50"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"VUS"	""
"0000789828"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"c.2944+1deIG"	"Check also: Hanein 2002"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000789829"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"c.2944+1deIG"	"Check also: Hanein 2002"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000789830"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"c.2944+1deIG"	"Check also: Hanein 2002"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000789831"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"c.2944+1deIG"	"Check also: Hanein 2002"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000789832"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"c.2944+1deIG"	"Check also: Hanein 2002"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000789833"	"3"	"70"	"17"	"7919111"	"7919111"	"del"	"0"	"00000"	"GUCY2D_000195"	"g.7919111del"	""	"{PMID:Avela 2019:31087526}"	""	"c.2994+1delG"	"Check also: Hanein 2002"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000789834"	"3"	"70"	"17"	"7919111"	"7919111"	"del"	"0"	"00000"	"GUCY2D_000195"	"g.7919111del"	""	"{PMID:Avela 2019:31087526}"	""	"c.2994+1delG"	"Check also: Hanein 2002"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000790084"	"3"	"90"	"17"	"7907025"	"7907025"	"subst"	"0"	"00000"	"GUCY2D_000196"	"g.7907025C>T"	""	"{PMID:Li-2009:18936139}"	""	"660C?T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790085"	"3"	"90"	"17"	"7907025"	"7907025"	"subst"	"0"	"00000"	"GUCY2D_000196"	"g.7907025C>T"	""	"{PMID:Li-2009:18936139}"	""	"660C?T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790086"	"3"	"90"	"17"	"7907025"	"7907025"	"subst"	"0"	"00000"	"GUCY2D_000196"	"g.7907025C>T"	""	"{PMID:Li-2009:18936139}"	""	"660C?T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790089"	"0"	"10"	"17"	"7907230"	"7907230"	"subst"	"0"	"00000"	"GUCY2D_000197"	"g.7907230T>A"	""	"{PMID:Li-2009:18936139}"	""	"782T?A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000790093"	"0"	"10"	"17"	"7906613"	"7906613"	"subst"	"0"	"00000"	"MYH2_000008"	"g.7906613C>T"	""	"{PMID:Li-2009:18936139}"	""	"248C?T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000790310"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790311"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790312"	"0"	"31"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790317"	"0"	"50"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790328"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790329"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790330"	"0"	"30"	"17"	"7906486"	"7906486"	"subst"	"0.000114229"	"00000"	"GUCY2D_000026"	"g.7906486C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.121C>T (p.Leu41Phe)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790334"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790335"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790336"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790337"	"0"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790338"	"3"	"30"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Vallespin 2007:18055816}"	""	"c.2101C>T (p.Pro701Ser*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790398"	"1"	"50"	"17"	"7906439"	"7906439"	"subst"	"0.00220204"	"00006"	"GUCY2D_000025"	"g.7906439C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790521"	"0"	"50"	"17"	"7919299"	"7919299"	"subst"	"0.000259024"	"00000"	"GUCY2D_000198"	"g.7919299C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs146149224"	"0"	""	""	"g.8015981C>T"	""	"VUS"	""
"0000790675"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Daiger 2014:24664689}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic (dominant)"	""
"0000790683"	"1"	"90"	"17"	"0"	"0"	""	"0"	"00000"	"MYH2_000008"	"g.?"	""	"{PMID:Daiger 2014:24664689}"	""	"Arg838Cys"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000791138"	"10"	"50"	"17"	"7918674"	"7918674"	"subst"	"0"	"00000"	"GUCY2D_000199"	"g.7918674T>C"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8015356T>C"	""	"VUS"	"ACMG"
"0000791142"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	"ACMG"
"0000791143"	"11"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	"ACMG"
"0000791144"	"21"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	"ACMG"
"0000791145"	"21"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	"ACMG"
"0000791146"	"0"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	"ACMG"
"0000791199"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	"ACMG"
"0000791200"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	"ACMG"
"0000791587"	"21"	"70"	"17"	"7918365"	"7918365"	"subst"	"0"	"00000"	"GUCY2D_000150"	"g.7918365A>G"	""	"{PMID:Hosono 2018:29844330}"	""	"c.2765A>G"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.8015047A>G"	""	"likely pathogenic"	"ACMG"
"0000791598"	"11"	"90"	"17"	"7915926"	"7915926"	"dup"	"0"	"00000"	"GUCY2D_000201"	"g.7915926dup"	""	"{PMID:Hosono 2015:26097748}"	""	"c.2113+2_2113+3insT"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.8012608dup"	""	"pathogenic"	"ACMG"
"0000791599"	"11"	"90"	"17"	"7915926"	"7915926"	"dup"	"0"	"00000"	"GUCY2D_000201"	"g.7915926dup"	""	"{PMID:Hosono 2015:26097748}"	""	"c.2113+2_2113+3insT"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.8012608dup"	""	"pathogenic"	"ACMG"
"0000791608"	"0"	"70"	"17"	"7918304"	"7918304"	"subst"	"0"	"00000"	"GUCY2D_000202"	"g.7918304G>C"	""	"{PMID:Hosono 2018:29844330}"	""	"c.2704G>C"	"heterozygous variant, probably not causative in the patient"	"Germline"	"no"	""	"0"	""	""	"g.8014986G>C"	""	"likely pathogenic"	"ACMG"
"0000791620"	"11"	"90"	"17"	"7919099"	"7919099"	"subst"	"0"	"00000"	"GUCY2D_000203"	"g.7919099C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.2983C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.8015781C>T"	""	"pathogenic"	"ACMG"
"0000791633"	"21"	"90"	"17"	"7918314"	"7918314"	"subst"	"0"	"00000"	"GUCY2D_000200"	"g.7918314T>C"	""	"{PMID:Hosono 2015:26097748}"	""	"c.2714T>C"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.8014996T>C"	""	"pathogenic"	"ACMG"
"0000791634"	"21"	"90"	"17"	"7918314"	"7918314"	"subst"	"0"	"00000"	"GUCY2D_000200"	"g.7918314T>C"	""	"{PMID:Hosono 2015:26097748}"	""	"c.2714T>C"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.8014996T>C"	""	"pathogenic"	"ACMG"
"0000791915"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Bowne 2011:20861475}"	""	"c.2512C>T"	"One additional segregating variant in GUCY2D has also been reported to cause cone–rod dystrophy"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000792134"	"3"	"90"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	"4/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"164C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792135"	"3"	"90"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	"4/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"164C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792136"	"3"	"90"	"17"	"7912905"	"7912905"	"subst"	"0"	"00000"	"GUCY2D_000208"	"g.7912905G>T"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1749+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792137"	"3"	"90"	"17"	"7912905"	"7912905"	"subst"	"0"	"00000"	"GUCY2D_000208"	"g.7912905G>T"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1749+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792138"	"3"	"90"	"17"	"7917285"	"7917285"	"subst"	"4.06339E-6"	"00000"	"GUCY2D_000211"	"g.7917285T>G"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"2351T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792139"	"3"	"90"	"17"	"7917285"	"7917285"	"subst"	"4.06339E-6"	"00000"	"GUCY2D_000211"	"g.7917285T>G"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"2351T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792140"	"0"	"90"	"17"	"7906673"	"7906673"	"subst"	"0"	"00000"	"GUCY2D_000204"	"g.7906673A>T"	"2/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"308A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792141"	"0"	"90"	"17"	"7916489"	"7916489"	"subst"	"8.13213E-6"	"00000"	"GUCY2D_000017"	"g.7916489G>A"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"2182G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792142"	"0"	"90"	"17"	"7906673"	"7906673"	"subst"	"0"	"00000"	"GUCY2D_000204"	"g.7906673A>T"	"2/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"308A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792143"	"0"	"90"	"17"	"7915790"	"7915790"	"subst"	"0.000406303"	"00000"	"GUCY2D_000109"	"g.7915790G>A"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1979G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792144"	"0"	"90"	"17"	"7907475"	"7907475"	"subst"	"0"	"00000"	"GUCY2D_000205"	"g.7907475G>A"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1026+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792145"	"1"	"90"	"17"	"7909868"	"7909870"	"delins"	"0"	"00000"	"GUCY2D_000206"	"g.7909868_7909870delinsCA"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"[1214T>C;1216G>A] p.405P;D406N"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792146"	"0"	"90"	"17"	"7915631"	"7915631"	"subst"	"0"	"00000"	"GUCY2D_000209"	"g.7915631G>A"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1919G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792147"	"0"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"2302C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792162"	"0"	"90"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	"4/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"164C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792163"	"0"	"90"	"17"	"7919279"	"7919284"	"dup"	"0"	"00000"	"GUCY2D_000213"	"g.7919279_7919284dupGATTCT"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"3078_3083dupGATTCT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792180"	"0"	"10"	"17"	"7907383"	"7907383"	"subst"	"2.08692E-5"	"00000"	"GUCY2D_000160"	"g.7907383C>T"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"935C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000792181"	"0"	"10"	"17"	"7919136"	"7919136"	"subst"	"0"	"00000"	"GUCY2D_000190"	"g.7919136C>T"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"3020C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000792183"	"0"	"10"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	"4/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"164C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000792185"	"0"	"10"	"17"	"7916507"	"7916508"	"delins"	"0"	"00000"	"GUCY2D_000210"	"g.7916507_7916508delinsGC"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"[2200A>G;2201T>C]"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000792192"	"0"	"10"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	"4/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"164C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000792259"	"0"	"30"	"17"	"7910779"	"7910779"	"subst"	"0.000316834"	"00000"	"GUCY2D_000207"	"g.7910779C>T"	""	"{PMID:_Audo-2012:22277662}"	""	"c.1499C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000792263"	"0"	"90"	"17"	"7918793"	"7918793"	"subst"	"8.16167E-6"	"00000"	"GUCY2D_000212"	"g.7918793G>A"	""	"{PMID:_Audo-2012:22277662}"	""	"c.2917G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000794112"	"0"	"70"	"17"	"7919100"	"7919100"	"subst"	"4.15673E-6"	"03508"	"GUCY2D_000099"	"g.7919100G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794113"	"0"	"70"	"17"	"7919244"	"7919244"	"subst"	"8.38286E-6"	"03508"	"GUCY2D_000104"	"g.7919244G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794328"	"0"	"90"	"17"	"7909679"	"7909679"	"subst"	"0"	"00000"	"GUCY2D_000215"	"g.7909679A>G"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000180.3:c.1027-2A>G, NP_000171.1:p.?, NC_000017.10:g.7909679A>G"	""	"Germline"	"?"	""	"0"	""	""	"g.8006361A>G"	""	"pathogenic"	"ACMG"
"0000794329"	"0"	"90"	"17"	"7906609"	"7906615"	"dup"	"0"	"00000"	"GUCY2D_000214"	"g.7906609_7906615dup"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000180.3:c.244_250dup, NP_000171.1:p.(Leu84ArgfsTer237), NC_000017.10:g.7906609_7906615dup"	""	"Germline"	"?"	""	"0"	""	""	"g.8003291_8003297dup"	""	"pathogenic"	"ACMG"
"0000795936"	"0"	"90"	"17"	"7918260"	"7918260"	"subst"	"0"	"00000"	"GUCY2D_000223"	"g.7918260T>G"	""	"{PMID:Schorderet-2013:23484092}"	""	"p.GUCY2D-V887G"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000795961"	"0"	"30"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	""	"{PMID:Chen-2013:23661368}"	""	"c.164C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000795965"	"0"	"70"	"17"	"7924199"	"7924199"	"subst"	"0"	"00000"	"GUCY2D_000231"	"g.7924199G>T"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[2015G>A];[2476C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795966"	"0"	"70"	"17"	"7915669"	"7915669"	"subst"	"0"	"00000"	"GUCY2D_000219"	"g.7915669G>T"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[2015G>A];[2476C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795967"	"0"	"70"	"17"	"7919070"	"7919070"	"del"	"0"	"00000"	"GUCY2D_000226"	"g.7919070delT"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[1956+1G>T];[3034A>C]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795968"	"0"	"70"	"17"	"7919150"	"7919150"	"subst"	"0"	"00000"	"GUCY2D_000227"	"g.7919150A>C"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[1956+1G>T];[3034A>C]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795989"	"0"	"30"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	""	"{PMID:Chen-2013:23661368}"	""	"c.164C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000795990"	"0"	"30"	"17"	"7918659"	"7918659"	"subst"	"0"	"00000"	"GUCY2D_000225"	"g.7918659G>A"	""	"{PMID:Chen-2013:23661368}"	""	"c.2783G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000795996"	"0"	"30"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	""	"{PMID:Chen-2013:23661368}"	""	"c.164C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000796006"	"0"	"30"	"17"	"7907283"	"7907283"	"subst"	"4.06841E-6"	"00000"	"GUCY2D_000176"	"g.7907283G>A"	""	"{PMID:Chen-2013:23661368}"	""	"c.835G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000796049"	"0"	"90"	"17"	"7917279"	"7917279"	"subst"	"0.12252"	"00000"	"GUCY2D_000057"	"g.7917279T>A"	""	"{PMID:Jonsson-2013:23443024}"	""	"c.2345T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000796139"	"3"	"90"	"17"	"7919319"	"7919319"	"subst"	"0"	"00000"	"GUCY2D_000229"	"g.7919319C>A"	""	"{PMID:Verma-2013:24066033}"	""	"c.3118C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796145"	"3"	"90"	"17"	"7919268"	"7919276"	"dup"	"0"	"00000"	"GUCY2D_000228"	"g.7919268_7919276dup"	""	"{PMID:Verma-2013:24066033}"	""	"c.3068_3069insCACTGTGAG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796146"	"3"	"90"	"17"	"7919319"	"7919319"	"subst"	"0"	"00000"	"GUCY2D_000229"	"g.7919319C>A"	""	"{PMID:Verma-2013:24066033}"	""	"c.3118C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796199"	"0"	"90"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.1343C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796200"	"0"	"90"	"17"	"7918198"	"7918198"	"subst"	"4.06111E-6"	"00000"	"GUCY2D_000222"	"g.7918198G>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2598G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796201"	"3"	"90"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.1343C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796202"	"0"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Wang-2013:23847139}"	""	"c.2302C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796203"	"0"	"90"	"17"	"7919807"	"7919807"	"subst"	"0"	"00000"	"GUCY2D_000230"	"g.7919807C>T"	""	"{PMID:Wang-2013:23847139}"	""	"c.3271C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796233"	"3"	"90"	"17"	"7909770"	"7909770"	"subst"	"0"	"00000"	"GUCY2D_000217"	"g.7909770G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.1116G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796252"	"3"	"90"	"17"	"7916439"	"7916439"	"subst"	"1.22539E-5"	"00000"	"GUCY2D_000220"	"g.7916439C>T"	""	"{PMID:Wang-2013:23847139}"	""	"c.2132C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796253"	"0"	"90"	"17"	"7907191"	"7907191"	"subst"	"4.09407E-6"	"00000"	"GUCY2D_000216"	"g.7907191C>G"	""	"{PMID:Wang-2013:23847139}"	""	"c.743C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796254"	"0"	"90"	"17"	"7919609"	"7919609"	"subst"	"1.20262E-5"	"00000"	"GUCY2D_000063"	"g.7919609G>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.3224+1G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796255"	"0"	"90"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.1343C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796256"	"0"	"90"	"17"	"7918278"	"7918278"	"subst"	"8.1215E-6"	"00000"	"GUCY2D_000224"	"g.7918278C>T"	""	"{PMID:Wang-2013:23847139}"	""	"c.2678C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796257"	"0"	"90"	"17"	"7915645"	"7915645"	"subst"	"0"	"00000"	"GUCY2D_000218"	"g.7915645T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.1933T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796258"	"0"	"90"	"17"	"7916514"	"7916514"	"subst"	"0"	"00000"	"GUCY2D_000221"	"g.7916514T>G"	""	"{PMID:Wang-2013:23847139}"	""	"c.2207T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796729"	"0"	"70"	"17"	"7917293"	"7917293"	"subst"	"1.62546E-5"	"00000"	"GUCY2D_000233"	"g.7917293T>G"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.2359T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796738"	"3"	"90"	"17"	"7909747"	"7909760"	"del"	"0"	"00000"	"GUCY2D_000232"	"g.7909747_7909760del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1093_1106del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796746"	"3"	"90"	"17"	"7910400"	"7910400"	"dup"	"0"	"00000"	"GUCY2D_000194"	"g.7910400dup"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1401dupT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796748"	"3"	"90"	"17"	"7918366"	"7918366"	"subst"	"0"	"00000"	"GUCY2D_000234"	"g.7918366C>G"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.2766C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796749"	"3"	"70"	"17"	"7918803"	"7918803"	"subst"	"4.10007E-6"	"00000"	"GUCY2D_000235"	"g.7918803G>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.2927G>T"	""	"Germline"	""	"rs61750184"	"0"	""	""	""	""	"likely pathogenic"	""
"0000796826"	"0"	"90"	"17"	"7915891"	"7915891"	"subst"	"8.166E-6"	"00000"	"GUCY2D_000142"	"g.7915891C>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.2080C>T"	"Unknown 2nd allele"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796833"	"3"	"90"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.389delC"	""	"Germline"	""	"rs61749670"	"0"	""	""	""	""	"pathogenic"	""
"0000796836"	"3"	"90"	"17"	"7910400"	"7910400"	"dup"	"0"	"00000"	"GUCY2D_000194"	"g.7910400dup"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1401dupT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000797412"	"3"	"70"	"17"	"7915807"	"7915807"	"subst"	"1.21896E-5"	"00000"	"GUCY2D_000238"	"g.7915807C>T"	""	"{PMID:Patel 2019:30653986}"	""	"c.1996C-->T; p.Arg666Trp"	"no Sanger sequencing; homozygous"	"Germline"	"?"	""	"0"	""	""	"g.8012489C>T"	""	"likely pathogenic"	""
"0000797677"	"0"	"70"	"17"	"7910432"	"7910441"	"dup"	"0"	"00000"	"GUCY2D_000236"	"g.7910432_7910441dup"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCY2D c.1433_1442dup, p.(Phe482Glyfs*78), c.2234del, p.(Pro745Leufs*39)"	""	"Germline"	"?"	""	"0"	""	""	"g.8007114_8007123dup"	""	"likely pathogenic"	"ACMG"
"0000797678"	"0"	"70"	"17"	"7916541"	"7916541"	"del"	"0"	"00000"	"GUCY2D_000239"	"g.7916541del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCY2D c.1433_1442dup, p.(Phe482Glyfs*78), c.2234del, p.(Pro745Leufs*39)"	""	"Germline"	"?"	""	"0"	""	""	"g.8013223del"	""	"likely pathogenic"	"ACMG"
"0000797679"	"3"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCY2D c.2302C>T, p.(Arg768Trp), c.2302C>T, p.(Arg768Trp)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	"ACMG"
"0000797680"	"0"	"50"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe)"	""	"Germline"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"VUS"	"ACMG"
"0000797681"	"0"	"50"	"17"	"7906439"	"7906439"	"subst"	"0.00220204"	"00000"	"GUCY2D_000025"	"g.7906439C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe)"	""	"Germline"	"?"	""	"0"	""	""	"g.8003121C>T"	""	"VUS"	"ACMG"
"0000798014"	"0"	"50"	"17"	"7906439"	"7906439"	"subst"	"0.00220204"	"00000"	"GUCY2D_000025"	"g.7906439C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe)"	""	"Germline"	"?"	""	"0"	""	""	"g.8003121C>T"	""	"VUS"	"ACMG"
"0000798015"	"0"	"50"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe)"	""	"Germline"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"VUS"	"ACMG"
"0000798436"	"0"	"70"	"17"	"7912875"	"7912875"	"subst"	"2.43643E-5"	"00000"	"GUCY2D_000237"	"g.7912875C>T"	""	"{PMID:Song-2011:22025579}"	""	"c.1720C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000808328"	"0"	"50"	"17"	"7906439"	"7906439"	"subst"	"0.00220204"	"02325"	"GUCY2D_000025"	"g.7906439C>T"	""	""	""	"GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808329"	"0"	"50"	"17"	"7911300"	"7911300"	"subst"	"4.88432E-5"	"02330"	"GUCY2D_000137"	"g.7911300C>T"	""	""	""	"GUCY2D(NM_000180.4):c.1618C>T (p.R540C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808330"	"0"	"30"	"17"	"7915488"	"7915488"	"subst"	"3.25523E-5"	"01943"	"GUCY2D_000240"	"g.7915488G>C"	""	""	""	"GUCY2D(NM_000180.3):c.1776G>C (p.V592=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808331"	"0"	"90"	"17"	"7915807"	"7915807"	"subst"	"1.21896E-5"	"02325"	"GUCY2D_000238"	"g.7915807C>T"	""	""	""	"GUCY2D(NM_000180.4):c.1996C>T (p.R666W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000808332"	"0"	"50"	"17"	"7919139"	"7919139"	"subst"	"0"	"02330"	"GUCY2D_000241"	"g.7919139G>T"	""	""	""	"GUCY2D(NM_000180.4):c.3023G>T (p.R1008L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808333"	"0"	"30"	"17"	"7919158"	"7919158"	"subst"	"7.48752E-5"	"01943"	"GUCY2D_000242"	"g.7919158G>A"	""	""	""	"GUCY2D(NM_000180.3):c.3042G>A (p.L1014=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000811497"	"0"	"70"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Kim 2019:31496144}"	""	"GUCY2D c.2649delT, p.F883Lfs"	""	"Germline"	"?"	""	"0"	""	""	"g.8014931del"	""	"likely pathogenic"	"ACMG"
"0000811498"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kim 2019:31496144}"	""	"GUCY2D c.2513G>A, p.R838H"	""	"Germline"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	"ACMG"
"0000811529"	"0"	"50"	"17"	"7918767"	"7918767"	"subst"	"0"	"00000"	"GUCY2D_000125"	"g.7918767G>T"	""	"{PMID:Kim 2019:31496144}"	""	"GUCY2D c.2891G>T, p.R964L"	""	"Germline"	"?"	""	"0"	""	""	"g.8015449G>T"	""	"VUS"	"ACMG"
"0000811952"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"03840"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Nasser 2019:30945053}"	""	"c.2513G>A, p.R838H"	"heterozygous"	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000811953"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"03840"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Nasser 2019:30945053}"	""	"c.2513G>A, p.R838H"	"heterozygous"	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000812464"	"3"	"70"	"17"	"7917317"	"7917317"	"subst"	"4.06835E-6"	"00000"	"GUCY2D_000110"	"g.7917317C>T"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.2383C>T, p.(Arg795Trp)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013999C>T"	""	"likely pathogenic"	""
"0000812469"	"3"	"70"	"17"	"7909870"	"7909870"	"subst"	"0"	"00000"	"GUCY2D_000243"	"g.7909870G>C"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.1216G>C, p.(Asp406His)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8006552G>C"	""	"likely pathogenic"	""
"0000812520"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.2513G>A, p.(Arg838His)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000812721"	"0"	"90"	"17"	"7906494"	"7906499"	"del"	"0"	"00000"	"GUCY2D_000027"	"g.7906494_7906499del"	""	"{PMID:Wang 2019:31106028}"	""	"c.124_129del, p.(Leu44_Leu45del)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8003176_8003181del"	""	"pathogenic"	""
"0000812722"	"0"	"70"	"17"	"7909969"	"7909969"	"subst"	"0.00037632"	"00000"	"GUCY2D_000244"	"g.7909969G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.1315G>A, p.(Gly439Arg)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8006651G>A"	""	"likely pathogenic"	""
"0000812920"	"21"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"no"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000812922"	"21"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"no"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000812924"	"3"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000812926"	"3"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000812928"	"3"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000812930"	"3"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000812932"	"3"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000812934"	"3"	"90"	"17"	"7916394"	"7916588"	"del"	"0"	"00000"	"GUCY2D_000245"	"g.7916394_7916588del"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013076_8013270del"	""	"pathogenic"	""
"0000813018"	"3"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Ehrenberg 2019:31814694}"	""	"GUCY2D (NM_000180; OMIM: 600179): c.389del; p.Pro130Leufs*36 (hom) (juvenile RP), ?/(PCD)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000813630"	"1"	"70"	"17"	"7907392"	"7907392"	"subst"	"0"	"00000"	"GUCY2D_000248"	"g.7907392G>C"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.1481G>C, c.944G>C, p.C315S"	""	"Germline"	"yes"	""	"0"	""	""	"g.8004074G>C"	""	"likely pathogenic"	"ACMG"
"0000813678"	"1"	"90"	"17"	"7911264"	"7911264"	"subst"	"0"	"00000"	"GUCY2D_000250"	"g.7911264C>T"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.5353C>T, c.1582C>T, p.R528X"	""	"Germline"	"yes"	""	"0"	""	""	"g.8007946C>T"	""	"pathogenic"	"ACMG"
"0000813695"	"1"	"90"	"17"	"7917196"	"7917196"	"subst"	"0"	"00000"	"GUCY2D_000251"	"g.7917196A>G"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.11285A>G, c.2264-2A>G"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013878A>G"	""	"pathogenic"	"ACMG"
"0000813700"	"3"	"90"	"17"	"7917987"	"7917987"	"subst"	"0"	"00000"	"GUCY2D_000186"	"g.7917987C>G"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.12076C>G, c.2481C>G, p.Y827X"	""	"Germline"	"yes"	""	"0"	""	""	"g.8014669C>G"	""	"pathogenic"	"ACMG"
"0000813707"	"1"	"90"	"17"	"7917918"	"7917918"	"subst"	"0"	"00000"	"GUCY2D_000254"	"g.7917918G>A"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.12172G>A, c.2413+1G>A"	"error in annotation: it must be either c.2413-1G>A or c.2412+1G>A"	"Germline"	"yes"	""	"0"	""	""	"g.8014600G>A"	""	"pathogenic"	"ACMG"
"0000813708"	"3"	"90"	"17"	"7906540"	"7906540"	"del"	"0"	"00000"	"GUCY2D_000246"	"g.7906540del"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.628delC, c.174delC, p.L59Wfs*26"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003222del"	""	"pathogenic"	"ACMG"
"0000813713"	"1"	"70"	"17"	"7907284"	"7907284"	"subst"	"0"	"00000"	"GUCY2D_000247"	"g.7907284A>T"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.1373A>T, c.836A>T, p.D279V"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003966A>T"	""	"likely pathogenic"	"ACMG"
"0000813715"	"3"	"90"	"17"	"7917318"	"7917318"	"subst"	"0"	"00000"	"GUCY2D_000023"	"g.7917318G>A"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.11407G>A, c.2384G>A, p.R795Q"	""	"Germline"	"yes"	""	"0"	""	""	"g.8014000G>A"	""	"pathogenic"	"ACMG"
"0000813736"	"2"	"90"	"17"	"7916439"	"7916439"	"subst"	"1.22539E-5"	"00000"	"GUCY2D_000220"	"g.7916439C>T"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.10528C>T, c.2132C>T, p.P711L"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013121C>T"	""	"pathogenic"	"ACMG"
"0000813761"	"2"	"70"	"17"	"7918082"	"7918082"	"subst"	"1.2222E-5"	"00000"	"GUCY2D_000187"	"g.7918082C>T"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.12171C>T, c.2576C>T, p.P859L"	""	"Germline"	"yes"	""	"0"	""	""	"g.8014764C>T"	""	"likely pathogenic"	"ACMG"
"0000813771"	"2"	"70"	"17"	"7909868"	"7909868"	"subst"	"4.11611E-6"	"00000"	"GUCY2D_000249"	"g.7909868T>C"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.3957T>C, c.1214T>C, p.L405P"	""	"Germline"	"yes"	""	"0"	""	""	"g.8006550T>C"	""	"likely pathogenic"	"ACMG"
"0000813777"	"2"	"90"	"17"	"7917269"	"7917269"	"subst"	"0"	"00000"	"GUCY2D_000252"	"g.7917269G>T"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.11358G>T, c.2335G>T, p.E779X"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013951G>T"	""	"pathogenic"	"ACMG"
"0000813780"	"2"	"70"	"17"	"7917298"	"7917298"	"subst"	"0"	"00000"	"GUCY2D_000253"	"g.7917298G>T"	""	"{PMID:Xu 2020:31630094}"	""	"GUCY2D NM_000180: g.11387G>T, c.2364G>T, p.W788C"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013980G>T"	""	"likely pathogenic"	"ACMG"
"0000814620"	"0"	"70"	"17"	"7918347"	"7918347"	"subst"	"0"	"00000"	"GUCY2D_000019"	"g.7918347T>C"	""	"{PMID:de Castro-Miró-2014:24516651}"	""	"c.2747T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814930"	"1"	"70"	"17"	"7906677"	"7906678"	"dup"	"0"	"00000"	"GUCY2D_000255"	"g.7906677_7906678dup"	""	"{PMID:Cho 2020:32000842}"	""	"c.312_313dupTT, p.Cys105Phefs*25"	"Heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003359_8003360dup"	""	"likely pathogenic (recessive)"	""
"0000814932"	"2"	"70"	"17"	"7910183"	"7910183"	"subst"	"0"	"00000"	"GUCY2D_000256"	"g.7910183C>G"	""	"{PMID:Cho 2020:32000842}"	""	"c.1378+151C>G"	"Heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006865C>G"	""	"likely pathogenic (recessive)"	""
"0000815069"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Shanks 2013:22968130}"	""	"R838H"	""	"Germline"	""	"rs61750173"	"0"	""	""	""	""	"pathogenic"	""
"0000815283"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"GUCY2D:NM_000180 c.G2513A, p.R838H"	"heterozygous, individual solved, variant causal"	"Germline"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000815411"	"0"	"70"	"17"	"7915802"	"7915802"	"subst"	"0"	"00000"	"GUCY2D_000257"	"g.7915802A>G"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"GUCY2D:NM_000180 c.A1991G, p.H664R"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.8012484A>G"	""	"likely pathogenic"	"ACMG"
"0000817675"	"1"	"70"	"17"	"7915474"	"7915474"	"subst"	"0"	"00000"	"GUCY2D_000172"	"g.7915474C>T"	""	"{PMID:Zanolli 2020:32141364}"	""	"GUCY2D c.1762C>T; c.2190T>A"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012156C>T"	""	"likely pathogenic"	""
"0000817676"	"2"	"70"	"17"	"7916497"	"7916497"	"subst"	"0"	"00000"	"GUCY2D_000258"	"g.7916497T>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"GUCY2D c.1762C>T; c.2190T>A"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013179T>A"	""	"likely pathogenic"	""
"0000818421"	"11"	"90"	"17"	"7915802"	"7915802"	"subst"	"0"	"00000"	"GUCY2D_000095"	"g.7915802A>C"	""	"{PMID:Surl 2020:32165824}"	""	"c.1991A>C:p.(His664Pro)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8012484A>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818422"	"21"	"70"	"17"	"7919100"	"7919100"	"subst"	"4.15673E-6"	"00000"	"GUCY2D_000099"	"g.7919100G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.2984G>A:p.(Arg995Gln)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015782G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818423"	"3"	"90"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Surl 2020:32165824}"	""	"c.2649del:p.(Phe883Leufs*13)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	"ACMG"
"0000818424"	"11"	"90"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"00000"	"GUCY2D_000097"	"g.7915789C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.1978C>T:p.(Arg660*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8012471C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818425"	"21"	"50"	"17"	"7919154"	"7919154"	"subst"	"0"	"00000"	"GUCY2D_000098"	"g.7919154G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.3038G>A:p.(Gly1013Glu)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015836G>A"	""	"VUS"	"ACMG"
"0000818426"	"11"	"50"	"17"	"7915802"	"7915802"	"subst"	"0"	"00000"	"GUCY2D_000095"	"g.7915802A>C"	""	"{PMID:Surl 2020:32165824}"	""	"c.1991A>C:p.(His664Pro)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8012484A>C"	""	"VUS"	"ACMG"
"0000818427"	"21"	"90"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Surl 2020:32165824}"	""	"c.2649del:p.(Phe883Leufs*13)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	"ACMG"
"0000818428"	"3"	"90"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Surl 2020:32165824}"	""	"c.2649del:p.(Phe883Leufs*13)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	"ACMG"
"0000818429"	"11"	"90"	"17"	"7918249"	"7918249"	"del"	"0"	"00000"	"GUCY2D_000096"	"g.7918249del"	""	"{PMID:Surl 2020:32165824}"	""	"c.2649del:p.(Phe883Leufs*13)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8014931del"	""	"pathogenic (recessive)"	"ACMG"
"0000818430"	"21"	"50"	"17"	"7919154"	"7919154"	"subst"	"0"	"00000"	"GUCY2D_000098"	"g.7919154G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.3038G>A:p(.Gly1013Glu)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015836G>A"	""	"VUS"	"ACMG"
"0000818431"	"11"	"50"	"17"	"7918694"	"7918694"	"subst"	"0"	"00000"	"GUCY2D_000101"	"g.7918694C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.2818C>T:p.(Arg940Trp)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015376C>T"	""	"VUS"	"ACMG"
"0000818432"	"21"	"50"	"17"	"7919154"	"7919154"	"subst"	"0"	"00000"	"GUCY2D_000098"	"g.7919154G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.3038G>A:p.(Gly1013Glu)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015836G>A"	""	"VUS"	"ACMG"
"0000818433"	"11"	"70"	"17"	"7915502"	"7915502"	"subst"	"0"	"00000"	"GUCY2D_000014"	"g.7915502G>A"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	""	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8012184G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818434"	"0"	"70"	"17"	"7909680"	"7910463"	"del"	"0"	"00000"	"GUCY2D_000336"	"g.(7907475_7909680)_(7910463_7910743)del"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"dup ex4-5"	"compound heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.(8004157_8006362)_(8007145_8007425)del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818435"	"11"	"90"	"17"	"7915789"	"7915789"	"subst"	"4.06329E-6"	"00000"	"GUCY2D_000097"	"g.7915789C>T"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.1978C>T:p.(Arg660*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8012471C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818436"	"21"	"70"	"17"	"7919076"	"7919076"	"subst"	"0"	"00000"	"GUCY2D_000103"	"g.7919076G>C"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"2947C>A;2960G>C"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015758G>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818437"	"21"	"70"	"17"	"7919063"	"7919063"	"subst"	"0"	"00000"	"GUCY2D_000102"	"g.7919063C>A"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"2947C>A;2960G>C"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015745C>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818476"	"11"	"70"	"17"	"7919100"	"7919100"	"subst"	"4.15673E-6"	"00000"	"GUCY2D_000099"	"g.7919100G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.2984G>A:p.(Arg995Gln)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015782G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818477"	"21"	"70"	"17"	"7919244"	"7919244"	"subst"	"8.38286E-6"	"00000"	"GUCY2D_000104"	"g.7919244G>C"	""	"{PMID:Surl 2020:32165824}"	""	"c.3044-1G>C:p.?"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015926G>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000819500"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2513G>A/p.R838H"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000819501"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2513G>A/p.R838H"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000819502"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2513G>A/p.R838H"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000819503"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2513G>A/p.R838H"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000819504"	"1"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2513G>A/p.R838H"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000819658"	"1"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.1343C>A/p.S448*, variant 2: c.1343C>A/p.S448*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000819659"	"1"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.1343C>A/p.S448*, variant 2: c.1343C>A/p.S448*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000819660"	"1"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.1343C>A/p.S448*, variant 2: c.1343C>A/p.S448*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000819824"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2512C>T/p.R838C"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000820203"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2512C>A/p.R838S"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	""	"likely pathogenic"	""
"0000820204"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2512C>A/p.R838S"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	""	"likely pathogenic"	""
"0000820286"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCY2D, variant 1: c.2512C>T/p.R838C"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000821268"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Turro 2020:32581362}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000821269"	"3"	"70"	"17"	"7919299"	"7919300"	"ins"	"0"	"00000"	"GUCY2D_000262"	"g.7919299_7919300insCGTGCTCT"	""	"{PMID:Turro 2020:32581362}"	""	"GUCY2D c.3098_3099insCGTGCTCT, p.Gly1034ValfsTer15"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.8015981_8015982insCGTGCTCT"	""	"likely pathogenic"	""
"0000822051"	"3"	"70"	"17"	"7918260"	"7918260"	"subst"	"0"	"00000"	"GUCY2D_000223"	"g.7918260T>G"	""	"{PMID:Habibi 2020:32641690}"	""	"GUCY2D c.[2660 T > G];[2660 T > G], p.[V887G];[V887G]"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.8014942T>G"	""	"likely pathogenic"	""
"0000822091"	"0"	"70"	"17"	"7919819"	"7919819"	"del"	"0"	"00000"	"GUCY2D_000263"	"g.7919819delC"	""	"{PMID:Booij-2011:20801516}"	""	"c.3283delC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822092"	"0"	"70"	"17"	"7916483"	"7916483"	"subst"	"0"	"00000"	"GUCY2D_000260"	"g.7916483C>T"	""	"{PMID:Booij-2011:20801516}"	""	"c.2176C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822186"	"0"	"70"	"17"	"7906494"	"7906499"	"del"	"0"	"00000"	"GUCY2D_000027"	"g.7906494_7906499del"	""	"{PMID:Maggi_2021:33546218}"	""	"c.129_134del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822187"	"0"	"70"	"17"	"7907377"	"7907377"	"subst"	"0"	"00000"	"GUCY2D_000259"	"g.7907377C>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.929C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822428"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.2513G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822698"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000822699"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000822700"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000822701"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000822702"	"0"	"70"	"17"	"7917998"	"7917998"	"subst"	"0"	"00000"	"GUCY2D_000138"	"g.7917998T>C"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCY2D c.2492T>C, p.Leu831Pro"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014680T>C"	""	"likely pathogenic"	""
"0000822703"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000822930"	"3"	"70"	"17"	"7919257"	"7919257"	"subst"	"4.15928E-6"	"00000"	"GUCY2D_000269"	"g.7919257A>C"	""	"{PMID:Méjécase 2020:32783370}"	""	"GUCY2D c.3056A>C p.(His1019Pro)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015939A>C"	""	"likely pathogenic"	""
"0000823253"	"3"	"50"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Hull 2020:32856788}"	""	"GUCY2D nucleotide 1, protein 1:c.2302C>T , p.Arg768Trp"	"homozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.8013918C>T"	""	"VUS"	""
"0000823351"	"0"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1343A>C; p.Ser448Ter"	"error in annotation, p.Ser448Ter is caused by c.1343C>A and not c.1343A>C, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	"ACMG"
"0000823352"	"0"	"90"	"17"	"7915669"	"7915669"	"subst"	"4.07538E-6"	"00000"	"GUCY2D_000265"	"g.7915669G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1956+1G>A; p.?\'"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012351G>A"	""	"pathogenic"	"ACMG"
"0000823353"	"0"	"90"	"17"	"7915669"	"7915669"	"subst"	"4.07538E-6"	"00000"	"GUCY2D_000265"	"g.7915669G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1956+1G>A; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012351G>A"	""	"pathogenic"	"ACMG"
"0000823354"	"0"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.2302C>T; p.Arg768Trp"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	"ACMG"
"0000823355"	"0"	"50"	"17"	"7918198"	"7918198"	"subst"	"4.06111E-6"	"00000"	"GUCY2D_000222"	"g.7918198G>C"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.2598G>C; p.Lys866Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014880G>C"	""	"VUS"	"ACMG"
"0000823356"	"0"	"90"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.389deIC; p.Pro130LeufsTer36"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"pathogenic"	"ACMG"
"0000823357"	"0"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1343A>C; p.Ser448Ter"	"error in annotation, p.Ser448Ter is caused by c.1343C>A and not c.1343A>C, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	"ACMG"
"0000823358"	"0"	"90"	"17"	"7915766"	"7915766"	"subst"	"0"	"00000"	"GUCY2D_000266"	"g.7915766A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1957-2A>G; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012448A>G"	""	"pathogenic"	"ACMG"
"0000823359"	"0"	"50"	"17"	"7915783"	"7915783"	"subst"	"0"	"00000"	"GUCY2D_000267"	"g.7915783C>T"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1972C>T; p.His658Tyr"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012465C>T"	""	"VUS"	"ACMG"
"0000823360"	"0"	"90"	"17"	"7915766"	"7915766"	"subst"	"0"	"00000"	"GUCY2D_000266"	"g.7915766A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1957-2A>G; p.?"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012448A>G"	""	"pathogenic"	"ACMG"
"0000823361"	"0"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1343A>C; p.Ser448Ter"	"error in annotation, p.Ser448Ter is caused by c.1343C>A and not c.1343A>C, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	"ACMG"
"0000823439"	"0"	"50"	"17"	"7909706"	"7909706"	"subst"	"8.47558E-6"	"00000"	"GUCY2D_000161"	"g.7909706A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1052A>G; p.Tyr351Cys"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006388A>G"	""	"VUS"	"ACMG"
"0000823496"	"0"	"70"	"17"	"7909899"	"7909899"	"del"	"0"	"00000"	"GUCY2D_000264"	"g.7909899del"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1245deIT; p.Phe415LeufsTer73"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006581del"	""	"likely pathogenic"	"ACMG"
"0000823497"	"0"	"70"	"17"	"7909899"	"7909899"	"del"	"0"	"00000"	"GUCY2D_000264"	"g.7909899del"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1245deIT; p.Phe415LeufsTer73"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006581del"	""	"likely pathogenic"	"ACMG"
"0000823498"	"0"	"70"	"17"	"7909899"	"7909899"	"del"	"0"	"00000"	"GUCY2D_000264"	"g.7909899del"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1245deIT; p.Phe415LeufsTer73"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006581del"	""	"likely pathogenic"	"ACMG"
"0000823499"	"0"	"50"	"17"	"7919115"	"7919115"	"subst"	"0"	"00000"	"GUCY2D_000268"	"g.7919115G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.2999G>A; p.GIy1000GIu"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015797G>A"	""	"VUS"	"ACMG"
"0000823500"	"0"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1343A>C; p.Ser448Ter"	"error in annotation, p.Ser448Ter is caused by c.1343C>A and not c.1343A>C, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	"ACMG"
"0000823549"	"0"	"50"	"17"	"7912827"	"7912827"	"subst"	"8.5273E-5"	"00000"	"GUCY2D_000119"	"g.7912827G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1672G>A; p.Asp558Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8009509G>A"	""	"VUS"	"ACMG"
"0000823550"	"0"	"50"	"17"	"7912827"	"7912827"	"subst"	"8.5273E-5"	"00000"	"GUCY2D_000119"	"g.7912827G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1672G>A; p.Asp558Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8009509G>A"	""	"VUS"	"ACMG"
"0000823552"	"0"	"50"	"17"	"7912827"	"7912827"	"subst"	"8.5273E-5"	"00000"	"GUCY2D_000119"	"g.7912827G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"GUCY2D c.1672G>A; p.Asp558Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8009509G>A"	""	"VUS"	"ACMG"
"0000824628"	"11"	"30"	"17"	"7916486"	"7916486"	"subst"	"0.000349815"	"00000"	"GUCY2D_000036"	"g.7916486G>A"	""	"{PMID:Verdina 2021:33688152}"	""	"GUCY2D/c.2179G>A (p.Gly727Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8013168G>A"	""	"likely benign"	""
"0000824635"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Ma 2021:33691693}"	""	"GUCY2D c.G2513A, p.R838H"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	"ACMG"
"0000825725"	"0"	"70"	"17"	"7909679"	"7909679"	"subst"	"0"	"00000"	"GUCY2D_000215"	"g.7909679A>G"	""	"{PMID:Liu-2020:33090715}"	""	"c.1027-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825726"	"0"	"70"	"17"	"7906609"	"7906615"	"dup"	"0"	"00000"	"GUCY2D_000214"	"g.7906609_7906615dup"	""	"{PMID:Liu-2020:33090715}"	""	"c.244_250dupGCCCGCC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825949"	"0"	"70"	"17"	"7919774"	"7919774"	"subst"	"5.68835E-6"	"00000"	"GUCY2D_000270"	"g.7919774G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.3238G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825950"	"0"	"70"	"17"	"7906529"	"7906529"	"subst"	"0.000995641"	"00000"	"GUCY2D_000028"	"g.7906529C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.164C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000828871"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Chen 2021:43360855}"	""	"GUCY2D c.[2512C>T];[2512=], V1: c.2512C>T, (p.Arg838Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	"ACMG"
"0000828899"	"0"	"90"	"17"	"7919874"	"7919874"	"subst"	"3.70239E-5"	"00000"	"GUCY2D_000271"	"g.7919874T>G"	""	"{PMID:Chen 2021:43360855}"	""	"GUCY2D c.[*24+2T>G];[*24+2=], V1: c.*24+2T>G,"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8016556T>G"	""	"pathogenic"	"ACMG"
"0000828923"	"0"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Chen 2021:43360855}"	""	"GUCY2D c.[2512C>T];[2512=], V1: c.2512C>T, (p.Arg838Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	"ACMG"
"0000829446"	"0"	"70"	"17"	"7909972"	"7909973"	"del"	"0"	"00000"	"GUCY2D_000273"	"g.7909972_7909973del"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.1318_1319del (p.(Gly440Ilefs*6))"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829449"	"0"	"70"	"17"	"7918820"	"7918820"	"del"	"0"	"00000"	"GUCY2D_000274"	"g.7918820del"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2943del (p.Gly982Valfs)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829451"	"0"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2302C>T (p.(Arg768Trp))"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829453"	"3"	"70"	"17"	"7918820"	"7918820"	"del"	"0"	"00000"	"GUCY2D_000274"	"g.7918820del"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2943del (p.Gly982Valfs)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829981"	"0"	"50"	"17"	"7906527"	"7906527"	"subst"	"0"	"00000"	"GUCY2D_000272"	"g.7906527C>G"	""	"{PMID:Numa-2020:33247286}"	""	"c.162C>G:p.F54L"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000843766"	"1"	"90"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Yzer-2005:16505055}"	""	"c.1694T>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000843767"	"2"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer-2005:16505055}"	""	"c.2302C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000843768"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer-2005:16505055}"	""	"c.2302C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000843769"	"1"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer-2005:16505055}"	""	"c.2302C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000843770"	"2"	"90"	"17"	"7918713"	"7918713"	"subst"	"8.15022E-6"	"00000"	"GUCY2D_000114"	"g.7918713C>T"	""	"{PMID:Yzer-2005:16505055}"	""	"c.2837C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000843771"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer-2005:16505055}"	""	"c.2302C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000843772"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Yzer-2005:16505055}"	""	"c.2302C>T"	""	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic"	""
"0000843773"	"3"	"90"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Yzer-2005:16505055}"	""	"c.1694T>C"	""	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic"	""
"0000844141"	"0"	"70"	"17"	"7906532"	"7906533"	"del"	"0"	"00000"	"GUCY2D_000276"	"g.7906532_7906533del"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.167_168delTG, p.Val56GlyfsTer262; c.738G>C, p.Met246Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003214_8003215del"	""	"likely pathogenic"	""
"0000844142"	"21"	"70"	"17"	"7906603"	"7906617"	"del"	"0"	"00000"	"GUCY2D_000129"	"g.7906603_7906617del"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.238_252del, p.Ala80_Leu84del; c.2620G>A, p.Glu874Lys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003285_8003299del"	""	"likely pathogenic"	""
"0000844143"	"0"	"50"	"17"	"7917215"	"7917215"	"subst"	"2.03313E-5"	"00000"	"GUCY2D_000279"	"g.7917215C>T"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2281C>T, p.Arg761Trp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013897C>T"	""	"VUS"	""
"0000844144"	"21"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000844145"	"0"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000844146"	"20"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000844147"	"20"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000844148"	"11"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000844149"	"11"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000844150"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000844151"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	""
"0000844152"	"0"	"90"	"17"	"7918027"	"7918027"	"subst"	"0"	"00000"	"GUCY2D_000121"	"g.7918027G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2521G>A, p.Glu841Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014709G>A"	""	"pathogenic"	""
"0000844153"	"0"	"90"	"17"	"7918304"	"7918304"	"subst"	"0"	"00000"	"GUCY2D_000124"	"g.7918304G>T"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2704G>T, p.Val902Leu"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.8014986G>T"	""	"pathogenic"	""
"0000844154"	"0"	"70"	"17"	"7918347"	"7918347"	"subst"	"0"	"00000"	"GUCY2D_000019"	"g.7918347T>C"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2747T>C, p.Ile916Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015029T>C"	""	"likely pathogenic"	""
"0000844155"	"0"	"70"	"17"	"7918347"	"7918347"	"subst"	"0"	"00000"	"GUCY2D_000019"	"g.7918347T>C"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.2747T>C, p.Ile916Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015029T>C"	""	"likely pathogenic"	""
"0000844156"	"0"	"50"	"17"	"7907186"	"7907186"	"subst"	"0"	"00000"	"GUCY2D_000277"	"g.7907186G>C"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.167_168delTG, p.Val56GlyfsTer262; c.738G>C, p.Met246Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003868G>C"	""	"VUS"	""
"0000844157"	"11"	"50"	"17"	"7918220"	"7918220"	"subst"	"0"	"00000"	"GUCY2D_000060"	"g.7918220G>A"	""	"{PMID:Liu 2020:32821499}"	""	"GUCY2D c.238_252del, p.Ala80_Leu84del; c.2620G>A, p.Glu874Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014902G>A"	""	"VUS"	""
"0000844158"	"21"	"70"	"17"	"7906509"	"7906509"	"del"	"0"	"00000"	"GUCY2D_000275"	"g.7906509del"	""	"{PMID:Feng 2020:32255808}"	""	"GUCY2D c.139delC (p.Ala49Profs*36)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003191del"	""	"likely pathogenic"	""
"0000844159"	"11"	"70"	"17"	"7918659"	"7918659"	"subst"	"0"	"00000"	"GUCY2D_000225"	"g.7918659G>A"	""	"{PMID:Feng 2020:32255808}"	""	"GUCY2D c.2783G>A (p.Gly928Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015341G>A"	""	"likely pathogenic"	""
"0000844160"	"21"	"70"	"17"	"7906509"	"7906509"	"del"	"0"	"00000"	"GUCY2D_000275"	"g.7906509del"	""	"{PMID:Feng 2020:32255808}"	""	"GUCY2D c.139delC (p.Ala49Profs*36)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003191del"	""	"likely pathogenic"	""
"0000844161"	"11"	"70"	"17"	"7918659"	"7918659"	"subst"	"0"	"00000"	"GUCY2D_000225"	"g.7918659G>A"	""	"{PMID:Feng 2020:32255808}"	""	"GUCY2D c.2783G>A (p.Gly928Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015341G>A"	""	"likely pathogenic"	""
"0000844162"	"21"	"70"	"17"	"7907283"	"7907283"	"subst"	"4.06841E-6"	"00000"	"GUCY2D_000176"	"g.7907283G>A"	""	"{PMID:Feng 2020:32255808}"	""	"GUCY2D c.835G>A (p.Asp279Asn)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003965G>A"	""	"likely pathogenic"	""
"0000844163"	"11"	"70"	"17"	"7918659"	"7918659"	"subst"	"0"	"00000"	"GUCY2D_000225"	"g.7918659G>A"	""	"{PMID:Feng 2020:32255808}"	""	"GUCY2D c.2783G>A (p.Gly928Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015341G>A"	""	"likely pathogenic"	""
"0000844164"	"3"	"50"	"17"	"7919050"	"7919060"	"dup"	"0"	"00000"	"GUCY2D_000282"	"g.7919050_7919060dup"	""	"{PMID:Salehi 2019:31844802}"	""	"GUCY2D c.2945-1_-11dupCATCTCCACAG"	"error in annotation, should be c.2945-11_2945-1dup; marked as PVS1 pathogenic, but predicted to have no influence on splicing, so changed to VUS; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015732_8015742dup"	""	"VUS"	""
"0000844165"	"3"	"90"	"17"	"7919073"	"7919101"	"del"	"0"	"00000"	"GUCY2D_000283"	"g.7919073_7919101del"	""	"{PMID:Salehi 2019:31844802}"	""	"GUCY2D c.2957_2985del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015755_8015783del"	""	"pathogenic"	""
"0000844166"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Tsokolas 2018:30588428}"	""	"GUCY2D c.2512C>T:p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	"rs61750172"	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844167"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Tsokolas 2018:30588428}"	""	"GUCY2D c.2512C>T:p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	"rs61750172"	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844168"	"0"	"70"	"17"	"7918218"	"7918218"	"subst"	"0"	"00000"	"GUCY2D_000123"	"g.7918218C>G"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.P873R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014900C>G"	""	"likely pathogenic"	""
"0000844169"	"11"	"70"	"17"	"7918218"	"7918218"	"subst"	"0"	"00000"	"GUCY2D_000123"	"g.7918218C>G"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.P873R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014900C>G"	""	"likely pathogenic"	""
"0000844170"	"11"	"70"	"17"	"7918218"	"7918218"	"subst"	"0"	"00000"	"GUCY2D_000123"	"g.7918218C>G"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.P873R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014900C>G"	""	"likely pathogenic"	""
"0000844171"	"21"	"70"	"17"	"7918218"	"7918218"	"subst"	"0"	"00000"	"GUCY2D_000123"	"g.7918218C>G"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.P873R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014900C>G"	""	"likely pathogenic"	""
"0000844172"	"0"	"70"	"17"	"7918304"	"7918304"	"subst"	"0"	"00000"	"GUCY2D_000124"	"g.7918304G>T"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.V902L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014986G>T"	""	"likely pathogenic"	""
"0000844173"	"0"	"70"	"17"	"7918044"	"7918044"	"subst"	"0"	"00000"	"GUCY2D_000122"	"g.7918044G>C"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.K846N"	"heterozygous"	"De novo"	"yes"	""	"0"	""	""	"g.8014726G>C"	""	"likely pathogenic"	""
"0000844174"	"0"	"70"	"17"	"7918027"	"7918027"	"subst"	"0"	"00000"	"GUCY2D_000121"	"g.7918027G>A"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.E841K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014709G>A"	""	"likely pathogenic"	""
"0000844175"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Wimberg 2018:30319355}"	""	"GUCY2D p.A710V"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844176"	"3"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Aguirre 2016:28403437}"	""	"GUCY2D p.Ser448X"	"homozygous (four more patients from this study were already previously reported)"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000844177"	"3"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Aguirre 2016:28403437}"	""	"GUCY2D p.Ser448X"	"homozygous (four more patients from this study were already previously reported)"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000844178"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844179"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844180"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844181"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844182"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844183"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844184"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844185"	"3"	"70"	"17"	"7916436"	"7916436"	"subst"	"0"	"00000"	"GUCY2D_000021"	"g.7916436C>T"	""	"{PMID:Gradstein 2016:27475985}"	""	"GUCY2D p.Ser448X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013118C>T"	""	"likely pathogenic"	""
"0000844186"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838C"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844187"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838C"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844188"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838C"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844189"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838H"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844190"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838H"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844191"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838H"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844192"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838H"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844193"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838H"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844194"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838H"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844195"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838P"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844196"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838P"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844197"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838P"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844198"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838P"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844199"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.R838P"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844200"	"0"	"70"	"17"	"7918051"	"7918051"	"subst"	"0"	"00000"	"GUCY2D_000281"	"g.7918051A>G"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.T849A"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014733A>G"	""	"likely pathogenic"	""
"0000844201"	"0"	"70"	"17"	"7918051"	"7918051"	"subst"	"0"	"00000"	"GUCY2D_000281"	"g.7918051A>G"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.T849A"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014733A>G"	""	"likely pathogenic"	""
"0000844202"	"0"	"70"	"17"	"7918051"	"7918051"	"subst"	"0"	"00000"	"GUCY2D_000281"	"g.7918051A>G"	""	"{PMID:Jiang 2015:26298565}"	""	"GUCY2D p.T849A"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014733A>G"	""	"likely pathogenic"	""
"0000844203"	"3"	"70"	"17"	"7911255"	"7911255"	"del"	"0"	"00000"	"GUCY2D_000278"	"g.7911255del"	""	"{PMID:Khan 2014:25189253}"	""	"GUCY2D c.1573delC, (p.Gln525Argfs*38)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8007937del"	""	"likely pathogenic"	""
"0000844204"	"3"	"70"	"17"	"7911255"	"7911255"	"del"	"0"	"00000"	"GUCY2D_000278"	"g.7911255del"	""	"{PMID:Khan 2014:25189253}"	""	"GUCY2D c.1573delC, (p.Gln525Argfs*38)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8007937del"	""	"likely pathogenic"	""
"0000844205"	"3"	"70"	"17"	"7911255"	"7911255"	"del"	"0"	"00000"	"GUCY2D_000278"	"g.7911255del"	""	"{PMID:Khan 2014:25189253}"	""	"GUCY2D c.1573delC, (p.Gln525Argfs*38)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8007937del"	""	"likely pathogenic"	""
"0000844206"	"3"	"70"	"17"	"7911255"	"7911255"	"del"	"0"	"00000"	"GUCY2D_000278"	"g.7911255del"	""	"{PMID:Khan 2014:25189253}"	""	"GUCY2D c.1573delC, (p.Gln525Argfs*38)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8007937del"	""	"likely pathogenic"	""
"0000844212"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCA1A: c.451C.T/p.L151F"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844213"	"20"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2512C.T/p.R838C"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844214"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2512C.T/p.R838C"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844215"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2512C.T/p.R838C"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844216"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2512C.T/p.R838C"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844217"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2513 G.A/p.R838H"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844218"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2513 G.A/p.R838H"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844219"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000280"	"g.7918018C>G"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2513 G.A/p.R838H"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>G"	""	"likely pathogenic"	""
"0000844220"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000280"	"g.7918018C>G"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2512C.G/p.R838G"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>G"	""	"likely pathogenic"	""
"0000844221"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000280"	"g.7918018C>G"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCY2D: c.2512C.G/p.R838G"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>G"	""	"likely pathogenic"	""
"0000844224"	"3"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844225"	"1"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844226"	"1"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844227"	"1"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844228"	"3"	"70"	"17"	"7918815"	"7918815"	"subst"	"4.1248E-6"	"00000"	"GUCY2D_000303"	"g.7918815A>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D His980Leu"	"no nucleotide written, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015497A>T"	""	"likely pathogenic"	""
"0000844229"	"1"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844230"	"1"	"70"	"17"	"7919609"	"7919609"	"subst"	"1.20262E-5"	"00000"	"GUCY2D_000063"	"g.7919609G>C"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D IVS18+1G>C"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8016291G>C"	""	"likely pathogenic"	""
"0000844231"	"1"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844232"	"3"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844233"	"1"	"70"	"17"	"7918195"	"7918195"	"del"	"4.06124E-6"	"00000"	"GUCY2D_000132"	"g.7918195del"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Leu865 del1bp"	"no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be c.2595del - first affected amino acid rule shifts it from Lys865 to Leu866; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014877del"	"RCV001068218.3"	"likely pathogenic"	""
"0000844234"	"1"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg768Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844235"	"2"	"70"	"17"	"7911315"	"7911315"	"subst"	"0"	"00000"	"GUCY2D_000291"	"g.7911315C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Gln545x"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8007997C>T"	""	"likely pathogenic"	""
"0000844236"	"2"	"70"	"17"	"7917971"	"7917971"	"subst"	"0"	"00000"	"GUCY2D_000295"	"g.7917971G>C"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg822Pro"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014653G>C"	""	"likely pathogenic"	""
"0000844237"	"2"	"70"	"17"	"7917971"	"7917971"	"subst"	"0"	"00000"	"GUCY2D_000295"	"g.7917971G>C"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg822Pro"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014653G>C"	""	"likely pathogenic"	""
"0000844238"	"2"	"70"	"17"	"7906494"	"7906499"	"del"	"0"	"00000"	"GUCY2D_000027"	"g.7906494_7906499del"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Leu42del6bp"	"no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be c.129_134del - 3\' rule shifts it from Leu 42 to Leu44; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003176_8003181del"	""	"likely pathogenic"	""
"0000844239"	"2"	"70"	"17"	"7907191"	"7907191"	"subst"	"4.09407E-6"	"00000"	"GUCY2D_000216"	"g.7907191C>G"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Ser248Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003873C>G"	""	"likely pathogenic"	""
"0000844240"	"2"	"70"	"17"	"7919807"	"7919807"	"subst"	"0"	"00000"	"GUCY2D_000230"	"g.7919807C>T"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Arg1091x"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8016489C>T"	""	"likely pathogenic"	""
"0000844241"	"2"	"70"	"17"	"7910432"	"7910441"	"dup"	"0"	"00000"	"GUCY2D_000236"	"g.7910432_7910441dup"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Met476 ins10bp"	"no nucleotide written, extrapolated from protein and databases; most probably 10 inserted nucleotides were meant to be c.1433_1442dup - first affected amino acid rule shifts it from Met476 to Phe482; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8007114_8007123dup"	""	"likely pathogenic"	""
"0000844242"	"2"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Jacobson 2012:23035049}"	""	"GUCY2D Ser981 del1bp"	"no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be 2943 (G) in codon 981 - 3\' rule shifts it to 2944; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	"RCV000084877.1"	"likely pathogenic"	""
"0000844256"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Mukherjee 2014:24480840}"	""	"GUCY2D c.2513G4A, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000844257"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Mukherjee 2014:24480840}"	""	"GUCY2D c.2513G4A, p.R838H"	"heterozygous; a de novo mutation from the wild type mother - probably zygotic mutation affecting also monozygotic twin"	"De novo"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000844258"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Mukherjee 2014:24480840}"	""	"GUCY2D c.2513G4A, p.R838H"	"heterozygous; a de novo mutation from the wild type mother - probably zygotic mutation affecting also monozygotic twin"	"De novo"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000844259"	"11"	"70"	"17"	"7918051"	"7918051"	"subst"	"0"	"00000"	"GUCY2D_000281"	"g.7918051A>G"	""	"{PMID:Zhao 2013:23734073}"	""	"GUCY2D c.2545 A> G (p.T849A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014733A>G"	""	"likely pathogenic (dominant)"	""
"0000844260"	"10"	"70"	"17"	"7918051"	"7918051"	"subst"	"0"	"00000"	"GUCY2D_000281"	"g.7918051A>G"	""	"{PMID:Zhao 2013:23734073}"	""	"GUCY2D c.2545 A> G (p.T849A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014733A>G"	""	"likely pathogenic (dominant)"	""
"0000844261"	"10"	"70"	"17"	"7918051"	"7918051"	"subst"	"0"	"00000"	"GUCY2D_000281"	"g.7918051A>G"	""	"{PMID:Zhao 2013:23734073}"	""	"GUCY2D c.2545 A> G (p.T849A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014733A>G"	""	"likely pathogenic (dominant)"	""
"0000844262"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Xu 2013:23686677}"	""	"GUCY2D c.2513G>C (p.R838P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic (dominant)"	""
"0000844263"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Xu 2013:23686677}"	""	"GUCY2D c.2513G>C (p.R838P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic (dominant)"	""
"0000844264"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Xu 2013:23686677}"	""	"GUCY2D c.2513G>C (p.R838P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic (dominant)"	""
"0000844265"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Xu 2013:23686677}"	""	"GUCY2D c.2513G>C (p.R838P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic (dominant)"	""
"0000844266"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Xu 2013:23686677}"	""	"GUCY2D c.2513G>C (p.R838P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic (dominant)"	""
"0000844267"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Xu 2013:23686677}"	""	"GUCY2D c.2513G>C (p.R838P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic (dominant)"	""
"0000844268"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Xu 2013:23686677}"	""	"GUCY2D c.2513G>C (p.R838P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic (dominant)"	""
"0000844269"	"0"	"70"	"17"	"7918674"	"7918674"	"subst"	"0"	"00000"	"GUCY2D_000199"	"g.7918674T>C"	""	"{PMID:Hughes 2012:22695961}"	""	"GUCY2D V933A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015356T>C"	""	"likely pathogenic (dominant)"	""
"0000844270"	"10"	"70"	"17"	"7918674"	"7918674"	"subst"	"0"	"00000"	"GUCY2D_000199"	"g.7918674T>C"	""	"{PMID:Hughes 2012:22695961}"	""	"GUCY2D V933A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015356T>C"	""	"likely pathogenic (dominant)"	""
"0000844283"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844284"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844285"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844286"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844287"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844288"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844289"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844290"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>T, p.Arg838Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic (dominant)"	""
"0000844291"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000280"	"g.7918018C>G"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2512C>G, p.Arg838Gly"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>G"	""	"likely pathogenic (dominant)"	""
"0000844292"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000844293"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000844294"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCY2D c.2513G>A, p.Arg838His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic (dominant)"	""
"0000844296"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"GUCY2D c.2513G>C, p.(Arg838Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844297"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"GUCY2D c.2513G>C, p.(Arg838Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844298"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"GUCY2D c.2513G>C, p.(Arg838Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844299"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"GUCY2D c.2513G>C, p.(Arg838Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844300"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"GUCY2D c.2513G>C, p.(Arg838Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844301"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"GUCY2D c.2513G>C, p.(Arg838Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844302"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Garcia-Hoyos 2011:21552474}"	""	"GUCY2D c.2513G>C, p.(Arg838Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844303"	"0"	"70"	"17"	"7918343"	"7918343"	"subst"	"4.06161E-6"	"00000"	"GUCY2D_000298"	"g.7918343A>G"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.2743A>G, p.I915V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015025A>G"	""	"likely pathogenic"	""
"0000844305"	"0"	"70"	"17"	"7918022"	"7918022"	"del"	"4.06101E-6"	"00000"	"GUCY2D_000143"	"g.7918022del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.2516delC, p.T838RfsX27"	"error in annotation: this deletion causes p.Thr838ArgfsTer27 and not p.Thr839ArgfsTer27; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014704del"	""	"likely pathogenic"	""
"0000844306"	"0"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.1343C>A, p.S448X"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000844307"	"0"	"70"	"17"	"7917237"	"7917237"	"subst"	"8.12678E-6"	"00000"	"GUCY2D_000056"	"g.7917237G>A"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.2303G>A, p.R768Q"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013919G>A"	""	"likely pathogenic"	""
"0000844308"	"0"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.2302C>T, p.R768W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844309"	"0"	"70"	"17"	"7907058"	"7907058"	"dup"	"0"	"00000"	"GUCY2D_000288"	"g.7907058dup"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.692_693insG, p.K232EfsX86"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003740dup"	""	"likely pathogenic"	""
"0000844310"	"0"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.1343C>A, p.S448X"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000844311"	"0"	"50"	"17"	"7915912"	"7915912"	"subst"	"0.0523539"	"00000"	"GUCY2D_000004"	"g.7915912C>T"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.2101C>T, p.P701S"	"single allele in a recessive disease; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012594C>T"	""	"VUS"	""
"0000844314"	"0"	"70"	"17"	"7916555"	"7916555"	"subst"	"4.06464E-6"	"00000"	"GUCY2D_000293"	"g.7916555G>T"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.2248G>T, p.E750X"	"single allele in a recessive disease; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013237G>T"	""	"likely pathogenic"	""
"0000844315"	"0"	"70"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"GUCY2D c.2302C>T, p.R768W"	"single allele in a recessive disease; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013918C>T"	""	"likely pathogenic"	""
"0000844372"	"0"	"70"	"17"	"7918722"	"7918722"	"subst"	"0"	"00000"	"GUCY2D_000302"	"g.7918722T>C"	""	"{PMID:Ugur Iseri 2010:20517349}"	""	"GUCY2D c.2846T>C, p.(Ile949Thr)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015404T>C"	""	"likely pathogenic"	""
"0000844373"	"0"	"70"	"17"	"7918722"	"7918722"	"subst"	"0"	"00000"	"GUCY2D_000302"	"g.7918722T>C"	""	"{PMID:Ugur Iseri 2010:20517349}"	""	"GUCY2D c.2846T>C, p.(Ile949Thr)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015404T>C"	""	"likely pathogenic"	""
"0000844374"	"0"	"70"	"17"	"7918722"	"7918722"	"subst"	"0"	"00000"	"GUCY2D_000302"	"g.7918722T>C"	""	"{PMID:Ugur Iseri 2010:20517349}"	""	"GUCY2D c.2846T>C, p.(Ile949Thr)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015404T>C"	""	"likely pathogenic"	""
"0000844375"	"0"	"70"	"17"	"7918722"	"7918722"	"subst"	"0"	"00000"	"GUCY2D_000302"	"g.7918722T>C"	""	"{PMID:Ugur Iseri 2010:20517349}"	""	"GUCY2D c.2846T>C, p.(Ile949Thr)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015404T>C"	""	"likely pathogenic"	""
"0000844376"	"0"	"70"	"17"	"7918722"	"7918722"	"subst"	"0"	"00000"	"GUCY2D_000302"	"g.7918722T>C"	""	"{PMID:Ugur Iseri 2010:20517349}"	""	"GUCY2D c.2846T>C, p.(Ile949Thr)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015404T>C"	""	"likely pathogenic"	""
"0000844377"	"0"	"70"	"17"	"7918722"	"7918722"	"subst"	"0"	"00000"	"GUCY2D_000302"	"g.7918722T>C"	""	"{PMID:Ugur Iseri 2010:20517349}"	""	"GUCY2D c.2846T>C, p.(Ile949Thr)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015404T>C"	""	"likely pathogenic"	""
"0000844380"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kim 2011:21218126}"	""	"GUCY2D c.2513G>A, p.(Arg838His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844383"	"1"	"50"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00000"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Peshenko 2010:20050595}"	""	"GUCY2D R768W"	"single heterozygous change while LCA should be caused by 2 recessive mutations"	"Germline"	"yes"	""	"0"	""	""	"g.8013918C>T"	""	"VUS"	""
"0000844384"	"1"	"50"	"17"	"7915627"	"7915627"	"subst"	"8.12599E-6"	"00000"	"GUCY2D_000163"	"g.7915627G>T"	""	"{PMID:Peshenko 2010:20050595}"	""	"GUCY2D D639Y"	"single heterozygous change while LCA should be caused by 2 recessive mutations"	"Germline"	"yes"	""	"0"	""	""	"g.8012309G>T"	""	"VUS"	""
"0000844386"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Pasadhika 2010:19959640}"	""	"GUCY2D Ser981 delltcG"	"no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be 2943 (G) in codon 981 - 3\' rule shifts it to 2944; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844387"	"1"	"70"	"17"	"7918737"	"7918737"	"subst"	"8.13431E-6"	"00000"	"GUCY2D_000170"	"g.7918737T>C"	""	"{PMID:Pasadhika 2010:19959640}"	""	"GUCY2D Leu954Pro"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015419T>C"	""	"likely pathogenic"	""
"0000844388"	"1"	"70"	"17"	"7907383"	"7907383"	"subst"	"2.08692E-5"	"00000"	"GUCY2D_000160"	"g.7907383C>T"	""	"{PMID:Pasadhika 2010:19959640}"	""	"GUCY2D Thr312Met"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8004065C>T"	""	"likely pathogenic"	""
"0000844397"	"2"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Pasadhika 2010:19959640}"	""	"GUCY2D Ser981 delltcG"	"no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be 2943 (G) in codon 981 - 3\' rule shifts it to 2944; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844398"	"2"	"70"	"17"	"7917317"	"7917317"	"subst"	"4.06835E-6"	"00000"	"GUCY2D_000110"	"g.7917317C>T"	""	"{PMID:Pasadhika 2010:19959640}"	""	"GUCY2D Arg795Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8013999C>T"	""	"likely pathogenic"	""
"0000844420"	"20"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844421"	"20"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844422"	"20"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844423"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844424"	"20"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844425"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844426"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844427"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844428"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>T, p.R838C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844429"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2513G>A, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844430"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2513G>A, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844431"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2513G>A, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844432"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2513G>A, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844433"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2513G>A, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844434"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2513G>T, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844435"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2513G>A, p.R838H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844436"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000280"	"g.7918018C>G"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>G, p.R838G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>G"	""	"likely pathogenic"	""
"0000844437"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000280"	"g.7918018C>G"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>G, p.R838G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>G"	""	"likely pathogenic"	""
"0000844438"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000280"	"g.7918018C>G"	""	"{PMID:Kitiratschky 2008:18487367}"	""	"GUCY2D c.2512C>G, p.R838G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>G"	""	"likely pathogenic"	""
"0000844439"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Mavrogiannis 2009:19320033}"	""	"GUCY2D codon number 838, CGC-CCC, Arg-Pro"	""	"Unknown"	"?"	""	"0"	""	""	"g.8014701G>C"	""	"likely pathogenic"	""
"0000844523"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Mavrogiannis 2009:19320033}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844524"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844525"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844526"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844527"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844528"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844529"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844530"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844531"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844532"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844533"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D c.387delC"	""	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844534"	"0"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844535"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844536"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844537"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844538"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844539"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844540"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844541"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844542"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844543"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844544"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844545"	"0"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Hanei 2008:17684531}"	""	"GUCY2D p.(Phe565Ser)"	""	"Unknown"	"?"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844546"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844547"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844548"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844549"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844550"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844551"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844552"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844553"	"0"	"70"	"17"	"7917953"	"7917953"	"subst"	"0"	"00000"	"GUCY2D_000294"	"g.7917953T>G"	""	"{PMID:Rezaie 2007:18161624}"	""	"GUCY2D c.2447T>G, p.(Ile816Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014635T>G"	""	"likely pathogenic"	""
"0000844554"	"0"	"70"	"17"	"7915472"	"7915472"	"subst"	"0"	"00000"	"GUCY2D_000292"	"g.7915472T>G"	""	"{PMID:Arbustini 2007:17879450}"	""	"GUCY2D c.1760T>G, p.(Leu587Arg)"	""	"Unknown"	"?"	""	"0"	""	""	"g.8012154T>G"	""	"likely pathogenic"	""
"0000844617"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D p.R838C (c.2512C>T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844618"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D p.R838C (c.2512C>T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844619"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D p.R838C (c.2512C>T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844620"	"3"	"70"	"17"	"7919144"	"7919144"	"del"	"0"	"00000"	"GUCY2D_000304"	"g.7919144del"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D p.E1010SfsX11 (c.3027delG)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015826del"	""	"likely pathogenic"	""
"0000844621"	"11"	"70"	"17"	"7918709"	"7918709"	"subst"	"0"	"00000"	"GUCY2D_000301"	"g.7918709C>T"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D p.H945Y (c.2833C>T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015391C>T"	""	"likely pathogenic"	""
"0000844622"	"21"	"70"	"17"	"7906551"	"7906551"	"subst"	"0"	"00000"	"GUCY2D_000286"	"g.7906551G>A"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D p.W62X (c.186G>A)"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.8003233G>A"	""	"likely pathogenic"	""
"0000844623"	"0"	"70"	"17"	"7909706"	"7909706"	"subst"	"8.47558E-6"	"00000"	"GUCY2D_000161"	"g.7909706A>G"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D p.Y351C (c.1052a>G)"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.8006388A>G"	""	"likely pathogenic"	""
"0000844637"	"21"	"70"	"17"	"7918803"	"7918803"	"subst"	"4.10007E-6"	"00000"	"GUCY2D_000235"	"g.7918803G>T"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D  p.R976L (c.2927G>T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015485G>T"	""	"likely pathogenic"	""
"0000844638"	"0"	"50"	"17"	"7907091"	"7907091"	"subst"	"0"	"00000"	"GUCY2D_000289"	"g.7907091G>T"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D  IVS2+5g>t"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003773G>T"	""	"VUS"	""
"0000844639"	"21"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Preising 2007:17525851}"	""	"GUCY2D  p.G982VfsX40 (c.2943delG)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844661"	"11"	"70"	"17"	"7918046"	"7918048"	"delins"	"0"	"00000"	"GUCY2D_000296"	"g.7918046_7918048delinsTCC"	""	"{PMID:Yoshida 2006:17200655}"	""	"GUCY2D c.2540_2542delinsTCC (p.Gln847_Lys848delinsLeuGln)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014728_8014730delinsTCC"	""	"likely pathogenic"	""
"0000844668"	"3"	"70"	"17"	"7919769"	"7919772"	"dup"	"0"	"00000"	"GUCY2D_000306"	"g.7919769_7919772dup"	""	"{PMID:Perrault 2004:15643614}"	""	"GUCY2D c.3236insACCA"	"error in annotation, should be c.3233_3236dup and not c.3236insACCA; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8016451_8016454dup"	""	"likely pathogenic"	""
"0000844669"	"0"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Perrault 2004:15643614}"	""	"GUCY2D c.2943delG"	"error in annotation, should be c.3233_3236dup and not c.3236insACCA; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844670"	"11"	"70"	"17"	"7919769"	"7919772"	"dup"	"0"	"00000"	"GUCY2D_000306"	"g.7919769_7919772dup"	""	"{PMID:Perrault 2004:15643614}"	""	"GUCY2D c.3236insACCA"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8016451_8016454dup"	""	"likely pathogenic"	""
"0000844671"	"0"	"70"	"17"	"7919163"	"7919163"	"subst"	"0"	"00000"	"GUCY2D_000305"	"g.7919163A>T"	""	"{PMID:Perrault 2004:15643614}"	""	"GUCY2D c.3043+4A>T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015845A>T"	""	"likely pathogenic"	""
"0000844672"	"21"	"70"	"17"	"7919163"	"7919163"	"subst"	"0"	"00000"	"GUCY2D_000305"	"g.7919163A>T"	""	"{PMID:Perrault 2004:15643614}"	""	"GUCY2D c.3043+4A>T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015845A>T"	""	"likely pathogenic"	""
"0000844673"	"20"	"70"	"17"	"7918046"	"7918048"	"delins"	"0"	"00000"	"GUCY2D_000296"	"g.7918046_7918048delinsTCC"	""	"{PMID:Yoshida 2006:17200655}"	""	"GUCY2D c.2540_2542delinsTCC (p.Gln847_Lys848delinsLeuGln)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014728_8014730delinsTCC"	""	"likely pathogenic"	""
"0000844674"	"21"	"50"	"17"	"7911297"	"7911297"	"subst"	"0"	"03840"	"GUCY2D_000284"	"g.7911297A>G"	""	"{PMID:Silva 2004:15512997}"	""	"GUCY2D I539V"	"modifier effect od RPE65 homozygous mutation speculated - phenotype more severe than in the sibling without this GUCY2D variant"	"Germline"	"yes"	""	"0"	""	""	"g.8007979A>G"	""	"likely pathogenic (!)"	""
"0000844675"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Ito 2004:15175914}"	""	"GUCY2D G2586A, R838H"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844676"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Ito 2004:15175914}"	""	"GUCY2D G2586A, R838H"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844677"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Ito 2004:15175914}"	""	"GUCY2D C2585T, R838C"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844678"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Ito 2004:15175914}"	""	"GUCY2D C2585T, R838C"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844693"	"1"	"70"	"17"	"7918737"	"7918737"	"subst"	"8.13431E-6"	"00000"	"GUCY2D_000170"	"g.7918737T>C"	""	"{PMID:Tucker 2004:15123990}"	""	"GUCY2D L954P"	"protein: dominant negative behavior;no nucleotide annotation, extrapolated from protein; heterozygous"	"In vitro (cloned)"	"yes"	""	"0"	""	""	"g.8015419T>C"	""	"likely pathogenic"	""
"0000844694"	"1"	"70"	"17"	"7906679"	"7906679"	"subst"	"0"	"00000"	"GUCY2D_000287"	"g.7906679G>A"	""	"{PMID:Tucker 2004:15123990}"	""	"GUCY2D C105Y"	"protein: reduced RetGC-1 acivity by 50%; no nucleotide annotation, extrapolated from protein; heterozygous"	"In vitro (cloned)"	"yes"	""	"0"	""	""	"g.8003361G>A"	"reduced RetGC-1 acivity by only 50%"	"likely pathogenic"	""
"0000844695"	"3"	"70"	"17"	"7906044"	"7906044"	"del"	"0"	"00000"	"GUCY2D_000285"	"g.7906044del"	""	"{PMID:Tucker 2004:15123990}"	""	"GUCY2D -18 5\' UTR 1 bp del (G)"	"no alteration in cyclase activity, but expected to reduce RNA levels, which in this setup could not be replicated (strong promoter); obsolete nucleotide annotation, correct annotation extrapolated from databases; homozygous"	"In vitro (cloned)"	"yes"	""	"0"	""	""	"g.8002726del"	""	"likely pathogenic"	""
"0000844696"	"0"	"70"	"17"	"7918078"	"7918078"	"subst"	"0"	"00000"	"GUCY2D_000297"	"g.7918078C>T"	""	"{PMID:Tucker 2004:15123990}"	""	"GUCY2D P858S"	"protein: dominant negative behavior; single heterozygous (no second variant found), no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"yes"	""	"0"	""	""	"g.8014760C>T"	"Dominant negative behavior"	"likely pathogenic"	""
"0000844697"	"2"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Tucker 2004:15123990}"	""	"GUCY2D S981 1 bp del (G)"	"not tested in this experimental setup; no nucleotide annotation, obsolete protein annotation; extrapolated from protein and databases; heterozygous"	"In vitro (cloned)"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844698"	"2"	"70"	"17"	"7907422"	"7907422"	"subst"	"0"	"00000"	"GUCY2D_000290"	"g.7907422T>C"	""	"{PMID:Tucker 2004:15123990}"	""	"GUCY2D L325P"	"protein: reduced RetGC-1 acivity by only 50%; no nucleotide annotation, extrapolated from protein; heterozygous"	"In vitro (cloned)"	"yes"	""	"0"	""	""	"g.8004104T>C"	""	"likely pathogenic"	""
"0000844699"	"11"	"70"	"17"	"7918344"	"7918344"	"subst"	"0"	"00000"	"GUCY2D_000299"	"g.7918344T>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D T2817C, I915T"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015026T>C"	""	"likely pathogenic"	""
"0000844700"	"21"	"70"	"17"	"7918344"	"7918344"	"subst"	"0"	"00000"	"GUCY2D_000299"	"g.7918344T>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D T2817C, I915T"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015026T>C"	""	"likely pathogenic"	""
"0000844701"	"20"	"70"	"17"	"7918344"	"7918344"	"subst"	"0"	"00000"	"GUCY2D_000299"	"g.7918344T>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D T2817C, I915T"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015026T>C"	""	"likely pathogenic"	""
"0000844702"	"11"	"70"	"17"	"7918344"	"7918344"	"subst"	"0"	"00000"	"GUCY2D_000299"	"g.7918344T>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D T2817C, I915T"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015026T>C"	""	"likely pathogenic"	""
"0000844703"	"10"	"70"	"17"	"7918344"	"7918344"	"subst"	"0"	"00000"	"GUCY2D_000299"	"g.7918344T>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D T2817C, I915T"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015026T>C"	""	"likely pathogenic"	""
"0000844704"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D G2586A, R838H"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844705"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D C2585T, R838C"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844706"	"11"	"70"	"17"	"7918349"	"7918349"	"subst"	"0"	"00000"	"GUCY2D_000300"	"g.7918349G>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D G2822C, G917R"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015031G>C"	""	"likely pathogenic"	""
"0000844707"	"21"	"70"	"17"	"7918349"	"7918349"	"subst"	"0"	"00000"	"GUCY2D_000300"	"g.7918349G>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D G2822C, G917R"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015031G>C"	""	"likely pathogenic"	""
"0000844708"	"20"	"70"	"17"	"7918349"	"7918349"	"subst"	"0"	"00000"	"GUCY2D_000300"	"g.7918349G>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D G2822C, G917R"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015031G>C"	""	"likely pathogenic"	""
"0000844709"	"11"	"70"	"17"	"7918349"	"7918349"	"subst"	"0"	"00000"	"GUCY2D_000300"	"g.7918349G>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D G2822C, G917R"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015031G>C"	""	"likely pathogenic"	""
"0000844710"	"10"	"70"	"17"	"7918349"	"7918349"	"subst"	"0"	"00000"	"GUCY2D_000300"	"g.7918349G>C"	""	"{PMID:Ito 2004:15111605}"	""	"GUCY2D G2822C, G917R"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015031G>C"	""	"likely pathogenic"	""
"0000844733"	"11"	"70"	"17"	"7915790"	"7915790"	"subst"	"0.000406303"	"00000"	"GUCY2D_000109"	"g.7915790G>A"	""	"{PMID:Milam 2003:12623820}"	""	"GUCY2D Arg-660-Gln"	"single heterozygous change, no second allele found; missing nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8012472G>A"	""	"likely pathogenic"	""
"0000844734"	"11"	"70"	"17"	"7915790"	"7915790"	"subst"	"0.000406303"	"00000"	"GUCY2D_000109"	"g.7915790G>A"	""	"{PMID:Milam 2003:12623820}"	""	"GUCY2D Arg-660-Gln"	"single heterozygous change, no second allele found; missing nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8012472G>A"	""	"likely pathogenic"	""
"0000844736"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Hanein 2002:12325031}"	""	"GUCY2D 2943DelG"	"homozygous; haplotype studies and Bayesian calculation point to a founder mutation occurring 150 generations ago; 3\'end rule shifts it to the end of the exon"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844737"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Hanein 2002:12325031}"	""	"GUCY2D 2943DelG"	"homozygous; haplotype studies and Bayesian calculation point to a founder mutation occurring 150 generations ago; 3\'end rule shifts it to the end of the exon"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844738"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Hanein 2002:12325031}"	""	"GUCY2D 2943DelG"	"homozygous; haplotype studies and Bayesian calculation point to a founder mutation occurring 150 generations ago; 3\'end rule shifts it to the end of the exon"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844739"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Hanein 2002:12325031}"	""	"GUCY2D 2943DelG"	"homozygous; haplotype studies and Bayesian calculation point to a founder mutation occurring 150 generations ago; 3\'end rule shifts it to the end of the exon"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000844740"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844741"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844742"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844743"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844744"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844745"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844746"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844747"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 1767 (T->C), F589S"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844748"	"3"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 460 delC in exon 2"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844749"	"3"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 460 delC in exon 2"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844750"	"3"	"70"	"17"	"7906987"	"7906987"	"del"	"0"	"00000"	"GUCY2D_000312"	"g.7906987del"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 693 delC in exon 2"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003669del"	""	"likely pathogenic"	""
"0000844751"	"3"	"70"	"17"	"7906987"	"7906987"	"del"	"0"	"00000"	"GUCY2D_000312"	"g.7906987del"	""	"{PMID:Perrault 1996:8944027}"	""	"GUCY2D 693 delC in exon 2"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8003669del"	""	"likely pathogenic"	""
"0000844752"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844753"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844754"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844755"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844756"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844757"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844758"	"0"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2584 G->C, E837D"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	""	"likely benign"	""
"0000844759"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2584 G->C, E837D"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	""	"likely benign"	""
"0000844760"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2584 G->C, E837D"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	""	"likely benign"	""
"0000844761"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2584 G->C, E837D"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	""	"likely benign"	""
"0000844762"	"21"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2584 G->C, E837D"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	""	"likely benign"	""
"0000844763"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2584 G->C, E837D"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	""	"likely benign"	""
"0000844764"	"0"	"30"	"17"	"7918022"	"7918022"	"subst"	"4.06134E-6"	"00000"	"GUCY2D_000040"	"g.7918022C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2589 C->T, T839M"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014704C>T"	""	"likely benign"	""
"0000844765"	"11"	"30"	"17"	"7918022"	"7918022"	"subst"	"4.06134E-6"	"00000"	"GUCY2D_000040"	"g.7918022C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2589 C->T, T839M"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014704C>T"	""	"likely benign"	""
"0000844766"	"11"	"30"	"17"	"7918022"	"7918022"	"subst"	"4.06134E-6"	"00000"	"GUCY2D_000040"	"g.7918022C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2589 C->T, T839M"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014704C>T"	""	"likely benign"	""
"0000844767"	"11"	"30"	"17"	"7918022"	"7918022"	"subst"	"4.06134E-6"	"00000"	"GUCY2D_000040"	"g.7918022C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2589 C->T, T839M"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014704C>T"	""	"likely benign"	""
"0000844768"	"21"	"30"	"17"	"7918022"	"7918022"	"subst"	"4.06134E-6"	"00000"	"GUCY2D_000040"	"g.7918022C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2589 C->T, T839M"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014704C>T"	""	"likely benign"	""
"0000844769"	"11"	"30"	"17"	"7918022"	"7918022"	"subst"	"4.06134E-6"	"00000"	"GUCY2D_000040"	"g.7918022C>T"	""	"{PMID:Perrault 1998:9683616}"	""	"GUCY2D 2589 C->T, T839M"	"obsolete annotation, actual nucleotide extrapolated from sequence in paper; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014704C>T"	""	"likely benign"	""
"0000844771"	"3"	"70"	"17"	"7906417"	"7906464"	"dup"	"0"	"00000"	"GUCY2D_000309"	"g.7906417_7906464dup"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 52-99Dup48bp"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003099_8003146dup"	""	"likely pathogenic"	""
"0000844772"	"3"	"70"	"17"	"7906591"	"7906604"	"del"	"0"	"00000"	"GUCY2D_000310"	"g.7906591_7906604del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 226-239Del14bp"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003273_8003286del"	""	"likely pathogenic"	""
"0000844773"	"3"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 387DelC"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844774"	"3"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 387DelC"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844775"	"3"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 387DelC"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844776"	"3"	"70"	"17"	"7906754"	"7906754"	"del"	"0"	"00000"	"GUCY2D_000066"	"g.7906754del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 387DelC"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003436del"	""	"likely pathogenic"	""
"0000844777"	"3"	"70"	"17"	"7906987"	"7906987"	"del"	"0"	"00000"	"GUCY2D_000312"	"g.7906987del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 620DelC"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003669del"	""	"likely pathogenic"	""
"0000844778"	"3"	"70"	"17"	"7906987"	"7906987"	"del"	"0"	"00000"	"GUCY2D_000312"	"g.7906987del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 620DelC"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003669del"	""	"likely pathogenic"	""
"0000844779"	"3"	"70"	"17"	"7915670"	"7915670"	"subst"	"0"	"00000"	"GUCY2D_000315"	"g.7915670T>A"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D T(1956+2)A"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012352T>A"	""	"likely pathogenic"	""
"0000844780"	"3"	"70"	"17"	"7915518"	"7915542"	"del"	"0"	"00000"	"GUCY2D_000314"	"g.7915518_7915542del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 1805-1829Del25bp"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012200_8012224del"	""	"likely pathogenic"	""
"0000844781"	"3"	"70"	"17"	"7919585"	"7919586"	"del"	"0"	"00000"	"GUCY2D_000321"	"g.7919585_7919586del"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D 3201-3202DelGA"	"obsolete annotation, actual nucleotide extrapolated from databases, error in reference sequnce, actual deleted nucleotides are CA; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8016267_8016268del"	""	"likely pathogenic"	""
"0000844782"	"3"	"70"	"17"	"7906368"	"7906368"	"subst"	"0"	"00000"	"GUCY2D_000307"	"g.7906368G>C"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D G3C, M1I"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003050G>C"	""	"likely pathogenic"	""
"0000844783"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D T1694C, F565S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844784"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D T1694C, F565S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844785"	"3"	"70"	"17"	"7912849"	"7912849"	"subst"	"0"	"00000"	"GUCY2D_000051"	"g.7912849T>C"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D T1694C, F565S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8009531T>C"	""	"likely pathogenic"	""
"0000844786"	"3"	"70"	"17"	"7918803"	"7918803"	"subst"	"4.10007E-6"	"00000"	"GUCY2D_000235"	"g.7918803G>T"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D G2927T, R976L"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015485G>T"	""	"likely pathogenic"	""
"0000844787"	"3"	"70"	"17"	"7919257"	"7919257"	"subst"	"4.15928E-6"	"00000"	"GUCY2D_000269"	"g.7919257A>C"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D A3956C, H1019P"	"obsolete annotation (and typing error,3956 instead of correct 3056A>C), actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015939A>C"	""	"likely pathogenic"	""
"0000844788"	"0"	"70"	"17"	"7906368"	"7906368"	"subst"	"0"	"00000"	"GUCY2D_000308"	"g.7906368G>A"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D G3A, M11"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003050G>A"	""	"likely pathogenic"	""
"0000844789"	"0"	"70"	"17"	"7906752"	"7906752"	"subst"	"0"	"00000"	"GUCY2D_000311"	"g.7906752C>A"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D C387A, N129K"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8003434C>A"	""	"likely pathogenic"	""
"0000844790"	"0"	"70"	"17"	"7907385"	"7907385"	"subst"	"1.67223E-5"	"00000"	"GUCY2D_000313"	"g.7907385C>T"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D C937T, R313C"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8004067C>T"	""	"likely pathogenic"	""
"0000844791"	"0"	"70"	"17"	"7919141"	"7919141"	"subst"	"8.27719E-6"	"00000"	"GUCY2D_000091"	"g.7919141A>C"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D A3025C, M1009L"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015823A>C"	""	"likely pathogenic"	""
"0000844792"	"0"	"70"	"17"	"7906486"	"7906486"	"subst"	"0.000114229"	"00000"	"GUCY2D_000026"	"g.7906486C>T"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D C121T, L41F"	"obsolete annotation, actual nucleotide extrapolated from databases; single heterozygous variant, no second allele found"	"Unknown"	"?"	""	"0"	""	""	"g.8003168C>T"	""	"likely pathogenic"	""
"0000844793"	"0"	"70"	"17"	"7911300"	"7911300"	"subst"	"4.88432E-5"	"00000"	"GUCY2D_000137"	"g.7911300C>T"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D C1618T, R540C"	"obsolete annotation, actual nucleotide extrapolated from databases; single heterozygous variant, no second allele found"	"Unknown"	"?"	""	"0"	""	""	"g.8007982C>T"	""	"likely pathogenic"	""
"0000844794"	"0"	"70"	"17"	"7919307"	"7919307"	"subst"	"0"	"00000"	"GUCY2D_000320"	"g.7919307C>T"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D C3106T, Q1036Z"	"obsolete annotation, actual nucleotide extrapolated from databases; single heterozygous variant, no second allele found"	"Unknown"	"?"	""	"0"	""	""	"g.8015989C>T"	""	"likely pathogenic"	""
"0000844795"	"0"	"70"	"17"	"7915767"	"7915767"	"subst"	"0"	"00000"	"GUCY2D_000316"	"g.7915767G>T"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D G(1957-1)T"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012449G>T"	""	"likely pathogenic"	""
"0000844796"	"0"	"70"	"17"	"7919099"	"7919099"	"subst"	"0"	"00000"	"GUCY2D_000203"	"g.7919099C>T"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D C2983T, R995W"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015781C>T"	""	"likely pathogenic"	""
"0000844797"	"0"	"70"	"17"	"7909997"	"7909997"	"subst"	"3.82399E-5"	"00000"	"GUCY2D_000070"	"g.7909997C>A"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D C1343A, S448Z"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8006679C>A"	""	"likely pathogenic"	""
"0000844798"	"0"	"70"	"17"	"7915767"	"7915767"	"subst"	"0"	"00000"	"GUCY2D_000317"	"g.7915767G>A"	""	"{PMID:Perrault 2000:10951519}"	""	"GUCY2D G(1957-1)A"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8012449G>A"	""	"likely pathogenic"	""
"0000844799"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"10"	"likely pathogenic"	""
"0000844800"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"10"	"likely pathogenic"	""
"0000844801"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"10"	"likely pathogenic"	""
"0000844802"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"10"	"likely pathogenic"	""
"0000844803"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"10"	"likely pathogenic"	""
"0000844804"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"21"	"likely pathogenic"	""
"0000844805"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"21"	"likely pathogenic"	""
"0000844806"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"11"	"likely pathogenic"	""
"0000844807"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"11"	"likely pathogenic"	""
"0000844808"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"11"	"likely pathogenic"	""
"0000844809"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"21"	"likely pathogenic"	""
"0000844810"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"21"	"likely pathogenic"	""
"0000844811"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"0"	"00000"	"GUCY2D_000261"	"g.7918018C>A"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D  C2585A, R838S"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>A"	"11"	"likely pathogenic"	""
"0000844812"	"10"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"10"	"likely benign"	""
"0000844813"	"10"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"10"	"likely benign"	""
"0000844814"	"10"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"10"	"likely benign"	""
"0000844815"	"10"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"10"	"likely benign"	""
"0000844816"	"10"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"10"	"likely benign"	""
"0000844817"	"21"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"21"	"likely benign"	""
"0000844818"	"21"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"21"	"likely benign"	""
"0000844819"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"11"	"likely benign"	""
"0000844820"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"11"	"likely benign"	""
"0000844821"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"11"	"likely benign"	""
"0000844822"	"21"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"21"	"likely benign"	""
"0000844823"	"21"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"21"	"likely benign"	""
"0000844824"	"11"	"30"	"17"	"7918015"	"7918015"	"subst"	"4.06121E-6"	"00000"	"GUCY2D_000318"	"g.7918015G>C"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2584 G-> C (E837D)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014697G>C"	"11"	"likely benign"	""
"0000844825"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"10"	"likely pathogenic"	""
"0000844826"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"10"	"likely pathogenic"	""
"0000844827"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"21"	"likely pathogenic"	""
"0000844828"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"21"	"likely pathogenic"	""
"0000844829"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"0"	"likely pathogenic"	""
"0000844830"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"0"	"likely pathogenic"	""
"0000844831"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"11"	"likely pathogenic"	""
"0000844832"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	"11"	"likely pathogenic"	""
"0000844833"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Kelsell 1998:9618177}"	""	"GUCY2D 2585 C-> T (R838C)"	"obsolete annotation, actual nucleotide extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	"0"	"likely pathogenic"	""
"0000844834"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Payne 2001:11565546}"	""	"GUCY2D C2585T, R838C"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	"0"	"likely pathogenic"	""
"0000844835"	"0"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Payne 2001:11565546}"	""	"GUCY2D C2585T, R838C"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014700C>T"	"0"	"likely pathogenic"	""
"0000844836"	"0"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Payne 2001:11565546}"	""	"GUCY2D G2586A, R838H"	"obsolete annotation, actual nucleotide extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014701G>A"	"0"	"likely pathogenic"	""
"0000844862"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844863"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844864"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844865"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844866"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844867"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844868"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844869"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844870"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844871"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844872"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844873"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844874"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844875"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844876"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844877"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844878"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844879"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844880"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844881"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844882"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844883"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844884"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844885"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844886"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844887"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844888"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844889"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844890"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844891"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844892"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844893"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844894"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844895"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844896"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844897"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844898"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844899"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844900"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844901"	"20"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844902"	"11"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844903"	"21"	"70"	"17"	"7918019"	"7918019"	"subst"	"0"	"00000"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2586G>A (R838H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014701G>A"	""	"likely pathogenic"	""
"0000844904"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2585C>T (R838C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844905"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2585C>T (R838C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844906"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2585C>T (R838C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844907"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2585C>T (R838C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844908"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2585C>T (R838C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844909"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2585C>T (R838C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844910"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Udar 2003:12552567}"	""	"GUCY2D 2585C>T (R838C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844911"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844912"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844913"	"10"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844914"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844915"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844916"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844917"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844918"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844919"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844920"	"21"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844921"	"11"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Van Ghelue 2000:11135490}"	""	"GUCY2D 2585 C->T, R858C"	"obsolete annotation, actual nucleotide extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000844946"	"3"	"50"	"17"	"0"	"0"	""	"0"	"00000"	"MYH2_000008"	"g.?"	""	"{PMID:Dharmaraj 2000:11035546}"	""	"DelG hom 5UTR GUCY2D"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"VUS"	""
"0000844947"	"0"	"50"	"17"	"0"	"0"	""	"0"	"00000"	"MYH2_000008"	"g.?"	""	"{PMID:Dharmaraj 2000:11035546}"	""	"DelG het 5UTR GUCY2D"	"single heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"VUS"	""
"0000844948"	"1"	"70"	"17"	"7906679"	"7906679"	"subst"	"0"	"00000"	"GUCY2D_000287"	"g.7906679G>A"	""	"{PMID:Dharmaraj 2000:11035546}"	""	"C105T Comp het GUCY2D"	"error in table - threonine; correct tyrosine in text; compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8003361G>A"	""	"likely pathogenic"	""
"0000844949"	"0"	"70"	"17"	"7918078"	"7918078"	"subst"	"0"	"00000"	"GUCY2D_000297"	"g.7918078C>T"	""	"{PMID:Dharmaraj 2000:11035546}"	""	"P858S het GUCY2D"	"single heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8014760C>T"	""	"likely pathogenic"	""
"0000844950"	"11"	"70"	"17"	"7918737"	"7918737"	"subst"	"8.13431E-6"	"00000"	"GUCY2D_000170"	"g.7918737T>C"	""	"{PMID:Dharmaraj 2000:11035546}"	""	"L954P het GUCY2D"	"single heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.8015419T>C"	""	"likely pathogenic"	""
"0000844951"	"3"	"70"	"17"	"7919256"	"7919265"	"delins"	"0"	"00000"	"GUCY2D_000319"	"g.7919256_7919265delinsACAG"	""	"{PMID:Dharmaraj 2000:11035546}"	""	"4 bpins/10bpdel hom GUCY2D"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.8015938_8015947delinsACAG"	""	"likely pathogenic"	""
"0000844954"	"2"	"70"	"17"	"7907422"	"7907422"	"subst"	"0"	"00000"	"GUCY2D_000290"	"g.7907422T>C"	""	"{PMID:Dharmaraj 2000:11035546}"	""	"L325P Comp het GUCY2D"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.8004104T>C"	""	"likely pathogenic"	""
"0000846866"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"GUCY2D c.2944+1deIG"	"no protein annotation; homozygous; shifted to c.2944del"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000846867"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"GUCY2D c.2944+1deIG"	"no protein annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000846868"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"GUCY2D c.2944+1deIG"	"no protein annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000846869"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"GUCY2D c.2944+1deIG"	"no protein annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000846870"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"GUCY2D c.2944+1deIG"	"no protein annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000846871"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"GUCY2D c.2994+1delG"	"no protein annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000846872"	"3"	"70"	"17"	"7918821"	"7918821"	"del"	"0"	"00000"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Avela 2019:31087526}"	""	"GUCY2D c.2994+1delG"	"no protein annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8015503del"	""	"likely pathogenic"	""
"0000855157"	"0"	"50"	"17"	"7907247"	"7907247"	"subst"	"0"	"01943"	"GUCY2D_000322"	"g.7907247G>C"	""	""	""	"GUCY2D(NM_000180.3):c.799G>C (p.G267R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855158"	"0"	"50"	"17"	"7916495"	"7916495"	"subst"	"2.03222E-5"	"02327"	"GUCY2D_000324"	"g.7916495T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855159"	"0"	"30"	"17"	"7919334"	"7919334"	"subst"	"0"	"02330"	"GUCY2D_000325"	"g.7919334C>T"	""	""	""	"GUCY2D(NM_000180.4):c.3133C>T (p.L1045=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865555"	"0"	"50"	"17"	"7907247"	"7907247"	"subst"	"0"	"02327"	"GUCY2D_000322"	"g.7907247G>C"	""	""	""	"GUCY2D(NM_000180.3):c.799G>C (p.G267R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865556"	"0"	"50"	"17"	"7909993"	"7909993"	"subst"	"0"	"01943"	"GUCY2D_000049"	"g.7909993C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1339C>T (p.P447S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865557"	"0"	"30"	"17"	"7910048"	"7910048"	"subst"	"0"	"02330"	"GUCY2D_000323"	"g.7910048C>T"	""	""	""	"GUCY2D(NM_000180.4):c.1378+16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865558"	"0"	"30"	"17"	"7910798"	"7910798"	"subst"	"3.24963E-5"	"02330"	"GUCY2D_000127"	"g.7910798C>T"	""	""	""	"GUCY2D(NM_000180.3):c.1518C>T (p.T506=), GUCY2D(NM_000180.4):c.1518C>T (p.T506=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000873645"	"0"	"70"	"17"	"7917309"	"7917309"	"subst"	"2.84669E-5"	"00000"	"GUCY2D_000147"	"g.7917309C>T"	"244"	"{PMID:Sun 2018:30076350}"	""	"CHM(NM_000390.2):c.1456_1457insG(p.A486Gfs*6 ); GUCY2D(NM_000180.3):c.2375C>T(p.P792L )"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.8013991C>T"	""	"likely pathogenic"	""
"0000880138"	"3"	"50"	"17"	"7918378"	"7918378"	"subst"	"8.17401E-6"	"00006"	"GUCY2D_000326"	"g.7918378T>G"	""	"{PMID:Bertoli-Avella 2022:34952832}"	""	""	""	"Germline"	""	"rs771741738"	"0"	""	""	""	""	"VUS"	""
"0000881228"	"3"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"02300"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Marinakis 2021:34008892}"	""	""	"ACMG PM5, PM1, PP2, PP3, PP4, PP5"	"Germline"	""	"rs61750168"	"0"	""	""	"g.8013918C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000894347"	"0"	"90"	"17"	"7907041"	"7907041"	"del"	"0"	"02330"	"GUCY2D_000327"	"g.7907041del"	""	""	""	"GUCY2D(NM_000180.4):c.676delG (p.A226Pfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894348"	"0"	"50"	"17"	"7909747"	"7909747"	"subst"	"0.000825541"	"02325"	"GUCY2D_000048"	"g.7909747C>T"	""	""	""	"GUCY2D(NM_000180.4):c.1093C>T (p.R365W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894349"	"0"	"90"	"17"	"7910432"	"7910441"	"dup"	"0"	"02330"	"GUCY2D_000236"	"g.7910432_7910441dup"	""	""	""	"GUCY2D(NM_000180.4):c.1433_1442dupTGGCTGGGGC (p.F482Gfs*78)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894350"	"0"	"30"	"17"	"7916588"	"7916588"	"subst"	"8.17307E-5"	"02330"	"GUCY2D_000328"	"g.7916588G>A"	""	""	""	"GUCY2D(NM_000180.4):c.2263+18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896624"	"1"	"70"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398"	"{PMID:Chen 2021:33608557}"	""	"GUCY2D c.[2512C>T];[2512=]; p.(Arg838Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"likely pathogenic"	""
"0000896681"	"1"	"90"	"17"	"7919874"	"7919874"	"subst"	"3.70239E-5"	"00000"	"GUCY2D_000271"	"g.7919874T>G"	"Taiwan Biobank: 0.001783; GnomAD_exome_East: ; GnomAD_All:"	"{PMID:Chen 2021:33608557}"	""	"GUCY2D c.[*24+2T>G];[*24+2=]; p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8016556T>G"	""	"pathogenic"	""
"0000896720"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"00000"	"GUCY2D_000009"	"g.7918018C>T"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398"	"{PMID:Chen 2021:33608557}"	""	"GUCY2D c.[2512C>T];[2512=]; p.(Arg838Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	""
"0000916075"	"3"	"90"	"17"	"7910841"	"7910841"	"subst"	"0"	"04436"	"GUCY2D_000330"	"g.7910841C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1561C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916276"	"1"	"50"	"17"	"7907440"	"7907440"	"subst"	"4.332E-6"	"04436"	"GUCY2D_000329"	"g.7907440G>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.992G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916277"	"2"	"70"	"17"	"7919590"	"7919590"	"del"	"0"	"04436"	"GUCY2D_000332"	"g.7919590del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.3206del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916345"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"04436"	"GUCY2D_000148"	"g.7918019G>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2513G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916359"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"04436"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2513G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916486"	"0"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"04436"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2512C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916693"	"3"	"70"	"17"	"7915465"	"7915465"	"subst"	"8.1696E-6"	"04436"	"GUCY2D_000331"	"g.7915465C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1753C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000926675"	"0"	"50"	"17"	"7909855"	"7909855"	"subst"	"0"	"02327"	"GUCY2D_000333"	"g.7909855C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000926676"	"0"	"50"	"17"	"7919069"	"7919069"	"subst"	"0"	"02327"	"GUCY2D_000334"	"g.7919069G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930906"	"0"	"70"	"17"	"7919141"	"7919141"	"subst"	"8.27719E-6"	"02330"	"GUCY2D_000091"	"g.7919141A>C"	""	""	""	"GUCY2D(NM_000180.4):c.3025A>C (p.M1009L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000951066"	"0"	"50"	"17"	"7915790"	"7915790"	"subst"	"0.000406303"	"02327"	"GUCY2D_000109"	"g.7915790G>A"	""	""	""	"GUCY2D(NM_000180.3):c.1979G>A (p.R660Q, p.(Arg660Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000951067"	"0"	"90"	"17"	"7918737"	"7918738"	"del"	"0"	"02327"	"GUCY2D_000335"	"g.7918737_7918738del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000954049"	"21"	"90"	"17"	"7915802"	"7915802"	"subst"	"0"	"00006"	"GUCY2D_000095"	"g.7915802A>C"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012484A>C"	""	"pathogenic"	""
"0000954084"	"11"	"70"	"17"	"7919100"	"7919100"	"subst"	"4.15673E-6"	"00006"	"GUCY2D_000099"	"g.7919100G>A"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015782G>A"	""	"likely pathogenic"	""
"0000958118"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00006"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000958149"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00006"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000958151"	"0"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"00006"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000958490"	"0"	"70"	"17"	"7919603"	"7919603"	"dup"	"0"	"00006"	"GUCY2D_000345"	"g.7919603dup"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_STRONG, PP5"	"Germline"	""	""	"0"	""	""	"g.8016285dup"	""	"likely pathogenic"	"ACMG"
"0000958610"	"0"	"50"	"17"	"7907445"	"7907445"	"subst"	"4.33351E-6"	"00006"	"GUCY2D_000073"	"g.7907445G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2"	"Germline"	""	""	"0"	""	""	"g.8004127G>A"	""	"VUS"	"ACMG"
"0000958663"	"0"	"90"	"17"	"7907274"	"7907274"	"del"	"0"	"00006"	"GUCY2D_000340"	"g.7907274del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.8003956del"	"1184899"	"pathogenic"	"ACMG"
"0000958862"	"0"	"50"	"17"	"7907203"	"7907203"	"subst"	"4.08467E-6"	"00006"	"GUCY2D_000339"	"g.7907203G>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1_SUPPORTING, PP2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.8003885G>C"	""	"VUS"	"ACMG"
"0000958898"	"3"	"50"	"17"	"7918242"	"7918242"	"subst"	"0"	"00006"	"GUCY2D_000344"	"g.7918242T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM1_SUPPORTING, PP2"	"Germline"	""	""	"0"	""	""	"g.8014924T>C"	""	"VUS"	"ACMG"
"0000958921"	"0"	"50"	"17"	"7917133"	"7917133"	"subst"	"0"	"00006"	"GUCY2D_000342"	"g.7917133C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, BP7"	"Germline"	""	""	"0"	""	""	"g.8013815C>T"	""	"VUS"	"ACMG"
"0000959023"	"0"	"70"	"17"	"7918022"	"7918022"	"subst"	"1.62454E-5"	"00006"	"GUCY2D_000343"	"g.7918022C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM1, PP2, PP5; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.8014704C>G"	""	"likely pathogenic"	"ACMG"
"0000959102"	"0"	"50"	"17"	"7907182"	"7907182"	"subst"	"0"	"00006"	"GUCY2D_000338"	"g.7907182T>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1_SUPPORTING, PP2"	"Germline"	""	""	"0"	""	""	"g.8003864T>G"	""	"VUS"	"ACMG"
"0000959168"	"0"	"50"	"17"	"7906745"	"7906745"	"subst"	"0"	"00006"	"GUCY2D_000337"	"g.7906745C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5, PP2"	"Germline"	""	""	"0"	""	""	"g.8003427C>G"	""	"VUS"	"ACMG"
"0000959184"	"0"	"50"	"17"	"7915859"	"7915859"	"subst"	"0"	"00006"	"GUCY2D_000341"	"g.7915859C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2"	"Germline"	""	""	"0"	""	""	"g.8012541C>G"	""	"VUS"	"ACMG"
"0000959259"	"0"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"00006"	"GUCY2D_000055"	"g.7917236C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1_MODERATE, PP3, PM2, PM5, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.8013918C>T"	""	"pathogenic"	"ACMG"
"0000959995"	"1"	"30"	"17"	"7915795"	"7915795"	"subst"	"0.000227537"	"00006"	"GUCY2D_000346"	"g.7915795G>A"	""	"{PMID:Zeitz 2024:38293907}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8012477G>A"	""	"benign"	""
"0000982890"	"0"	"30"	"17"	"7915795"	"7915795"	"subst"	"0.000227537"	"01804"	"GUCY2D_000346"	"g.7915795G>A"	""	""	""	"GUCY2D(NM_000180.4):c.1984G>A (p.(Val662Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982892"	"0"	"50"	"17"	"7916486"	"7916486"	"subst"	"0.000349815"	"01804"	"GUCY2D_000036"	"g.7916486G>A"	""	""	""	"GUCY2D(NM_000180.3):c.2179G>A (p.G727S), GUCY2D(NM_000180.4):c.2179G>A (p.G727S, p.(Gly727Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982893"	"0"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"01804"	"GUCY2D_000055"	"g.7917236C>T"	""	""	""	"GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000986432"	"1"	"70"	"17"	"7918022"	"7918022"	"subst"	"1.62454E-5"	"04405"	"GUCY2D_000343"	"g.7918022C>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014704C>G"	""	"likely pathogenic"	"ACMG"
"0000986433"	"1"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"04405"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000986434"	"1"	"70"	"17"	"7918347"	"7918347"	"subst"	"0"	"04405"	"GUCY2D_000019"	"g.7918347T>C"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015029T>C"	""	"likely pathogenic"	"ACMG"
"0000986435"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"04405"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	"ACMG"
"0000986436"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"04405"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	"ACMG"
"0000986437"	"1"	"70"	"17"	"7918075"	"7918075"	"subst"	"4.07077E-6"	"04405"	"GUCY2D_000348"	"g.7918075C>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"carries likely causative variants in more than one gene"	"Germline"	""	""	"0"	""	""	"g.8014757C>A"	""	"likely pathogenic"	"ACMG"
"0000986438"	"1"	"90"	"17"	"7918022"	"7918022"	"del"	"4.06101E-6"	"04405"	"GUCY2D_000143"	"g.7918022del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014704del"	""	"pathogenic"	"ACMG"
"0000986439"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"04405"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	"ACMG"
"0000986440"	"1"	"70"	"17"	"7919780"	"7919780"	"del"	"5.56998E-6"	"04405"	"GUCY2D_000349"	"g.7919780del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8016462del"	""	"likely pathogenic"	"ACMG"
"0000986441"	"1"	"90"	"17"	"7918019"	"7918019"	"subst"	"0"	"04405"	"GUCY2D_000058"	"g.7918019G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014701G>A"	""	"pathogenic"	"ACMG"
"0000986442"	"1"	"90"	"17"	"7918027"	"7918027"	"subst"	"0"	"04405"	"GUCY2D_000347"	"g.7918027G>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014709G>T"	""	"pathogenic"	"ACMG"
"0000986443"	"1"	"90"	"17"	"7918018"	"7918018"	"subst"	"4.06138E-6"	"04405"	"GUCY2D_000009"	"g.7918018C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8014700C>T"	""	"pathogenic"	"ACMG"
"0000986928"	"2"	"50"	"17"	"7918694"	"7918694"	"subst"	"0"	"04405"	"GUCY2D_000101"	"g.7918694C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015376C>T"	""	"VUS"	"ACMG"
"0000986946"	"1"	"90"	"17"	"7918821"	"7918821"	"del"	"0"	"04405"	"GUCY2D_000145"	"g.7918821del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"carries likely causative variants in more than one gene"	"Germline"	""	""	"0"	""	""	"g.8015503del"	""	"pathogenic"	"ACMG"
"0001003819"	"0"	"50"	"17"	"7906494"	"7906499"	"del"	"0"	"01804"	"GUCY2D_000027"	"g.7906494_7906499del"	""	""	""	"GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003823"	"0"	"50"	"17"	"7909928"	"7909928"	"subst"	"5.8312E-5"	"01804"	"GUCY2D_000350"	"g.7909928G>C"	""	""	""	"GUCY2D(NM_000180.3):c.1274G>C (p.(Gly425Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003826"	"0"	"90"	"17"	"7915790"	"7915790"	"subst"	"0.000406303"	"01804"	"GUCY2D_000109"	"g.7915790G>A"	""	""	""	"GUCY2D(NM_000180.3):c.1979G>A (p.R660Q, p.(Arg660Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001010908"	"0"	"50"	"17"	"7909966"	"7909966"	"subst"	"6.68796E-5"	"00006"	"GUCY2D_000351"	"g.7909966C>T"	""	"{PMID:li 2011:21602930}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8006648C>T"	""	"VUS"	""
"0001022250"	"1"	"90"	"17"	"7919141"	"7919141"	"subst"	"8.27719E-6"	"00006"	"GUCY2D_000091"	"g.7919141A>C"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs61750188"	"0"	""	""	"g.8015823A>C"	""	"pathogenic"	""
"0001022269"	"1"	"70"	"17"	"7907173"	"7907173"	"subst"	"0"	"00006"	"GUCY2D_000352"	"g.7907173T>A"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8003855T>A"	""	"likely pathogenic"	""
"0001022325"	"2"	"70"	"17"	"7917246"	"7917246"	"subst"	"0"	"00006"	"GUCY2D_000353"	"g.7917246T>A"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8013928T>A"	""	"likely pathogenic"	""
"0001022332"	"2"	"70"	"17"	"7919272"	"7919272"	"subst"	"0"	"00006"	"GUCY2D_000354"	"g.7919272C>T"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.8015954C>T"	""	"likely pathogenic"	""
"0001027076"	"0"	"10"	"17"	"7917905"	"7917905"	"subst"	"0.000589579"	"02327"	"GUCY2D_000088"	"g.7917905C>T"	""	""	""	"GUCY2D(NM_000180.4):c.2413-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001055824"	"0"	"10"	"17"	"7906439"	"7906439"	"subst"	"0.00220204"	"02327"	"GUCY2D_000025"	"g.7906439C>T"	""	""	""	"GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001055825"	"0"	"10"	"17"	"7906734"	"7906734"	"subst"	"0.000977488"	"02327"	"GUCY2D_000029"	"g.7906734C>T"	""	""	""	"GUCY2D(NM_000180.3):c.369C>T (p.G123=), GUCY2D(NM_000180.4):c.369C>T (p.G123=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001055826"	"0"	"50"	"17"	"7911301"	"7911301"	"subst"	"0"	"01804"	"GUCY2D_000355"	"g.7911301G>T"	""	""	""	"GUCY2D(NM_000180.4):c.1619G>T (p.(Arg540Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001059868"	"3"	"70"	"17"	"7906504"	"7906505"	"delins"	"0"	"00006"	"GUCY2D_000356"	"g.7906504_7906505delinsA"	""	"{PMID:Rashid 2020:32976546}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.8003186_8003187delinsA"	""	"likely pathogenic (recessive)"	""
"0001066632"	"0"	"90"	"17"	"7917236"	"7917236"	"subst"	"0.000162532"	"02325"	"GUCY2D_000055"	"g.7917236C>T"	""	""	""	"GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""


## 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 GUCY2D
## Count = 1116
"{{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}}"
"0000005665"	"00001248"	"30"	"2769"	"121"	"2769"	"121"	"c.2769+121T>C"	"r.(=)"	"p.(=)"	"14i"
"0000036430"	"00001248"	"50"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000059901"	"00001248"	"30"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059902"	"00001248"	"30"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059903"	"00001248"	"50"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059904"	"00001248"	"50"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059905"	"00001248"	"50"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059906"	"00001248"	"50"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059907"	"00001248"	"50"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059908"	"00001248"	"50"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	"2"
"0000059909"	"00001248"	"10"	"1571"	"0"	"1571"	"0"	"c.1571C>T"	"r.(?)"	"p.(Ala524Val)"	"7"
"0000059910"	"00001248"	"70"	"1724"	"0"	"1724"	"0"	"c.1724C>T"	"r.(?)"	"p.(Pro575Leu)"	"8"
"0000059911"	"00001248"	"10"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000059912"	"00001248"	"50"	"2165"	"0"	"2165"	"0"	"c.2165G>A"	"r.(?)"	"p.(Arg722Gln)"	"11"
"0000059913"	"00001248"	"10"	"3225"	"-7"	"3225"	"-7"	"c.3225-7C>T"	"r.(spl?)"	"p.(?)"	"18i"
"0000059914"	"00001248"	"10"	"3225"	"-7"	"3225"	"-7"	"c.3225-7C>T"	"r.(spl?)"	"p.(?)"	"18i"
"0000059915"	"00001248"	"10"	"3225"	"-7"	"3225"	"-7"	"c.3225-7C>T"	"r.(spl?)"	"p.(?)"	"18i"
"0000059916"	"00001248"	"10"	"3225"	"-7"	"3225"	"-7"	"c.3225-7C>T"	"r.(spl?)"	"p.(?)"	"18i"
"0000059917"	"00001248"	"10"	"3225"	"-7"	"3225"	"-7"	"c.3225-7C>T"	"r.(spl?)"	"p.(?)"	"18i"
"0000059918"	"00001248"	"10"	"61"	"0"	"61"	"0"	"c.61T>C"	"r.(?)"	"p.(Trp21Arg)"	"2"
"0000059919"	"00001248"	"90"	"994"	"0"	"994"	"0"	"c.994del"	"r.(?)"	"p.(Arg332Alafs*63)"	"3"
"0000059920"	"00001248"	"90"	"994"	"0"	"994"	"0"	"c.994del"	"r.(?)"	"p.(Arg332Alafs*63)"	"3"
"0000059921"	"00001248"	"90"	"2747"	"0"	"2747"	"0"	"c.2747T>C"	"r.(?)"	"p.(Ile916Thr)"	"14"
"0000059922"	"00001248"	"70"	"2663"	"0"	"2663"	"0"	"c.2663del"	"r.(?)"	"p.(Gly888Alafs*8)"	"14"
"0000059924"	"00001248"	"70"	"2885"	"0"	"2885"	"0"	"c.2885del"	"r.(?)"	"p.(Thr962Ilefs*16)"	"15"
"0000059926"	"00001248"	"70"	"3065"	"0"	"3065"	"0"	"c.3065T>A"	"r.(?)"	"p.(Leu1022*)"	"17"
"0000059928"	"00001248"	"70"	"524"	"0"	"524"	"0"	"c.524T>G"	"r.(?)"	"p.(Leu175Arg)"	"2"
"0000059930"	"00001248"	"70"	"1790"	"0"	"1790"	"0"	"c.1790G>A"	"r.(?)"	"p.(Gly597Glu)"	"9"
"0000059933"	"00001248"	"70"	"3037"	"0"	"3037"	"0"	"c.3037G>A"	"r.(?)"	"p.(Gly1013Arg)"	"16"
"0000059935"	"00001248"	"70"	"839"	"0"	"839"	"0"	"c.839C>G"	"r.(?)"	"p.(Thr280Arg)"	"3"
"0000059937"	"00001248"	"70"	"2182"	"0"	"2182"	"0"	"c.2182G>A"	"r.(?)"	"p.(Asp728Asn)"	"11"
"0000059938"	"00001248"	"70"	"159"	"0"	"159"	"0"	"c.159del"	"r.(?)"	"p.(Phe54Serfs*31)"	"1"
"0000119968"	"00001248"	"90"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000162771"	"00001248"	"90"	"2384"	"0"	"2384"	"0"	"c.2384G>A"	"r.(?)"	"p.(Arg795Gln)"	"12"
"0000162775"	"00001248"	"90"	"2189"	"0"	"2189"	"0"	"c.2189T>C"	"r.(?)"	"p.(Phe730Ser)"	"11"
"0000170876"	"00001248"	"90"	"914"	"0"	"914"	"0"	"c.914del"	"r.(?)"	"p.(His305Profs*90)"	"3"
"0000277525"	"00001248"	"30"	"121"	"0"	"121"	"0"	"c.121C>T"	"r.(?)"	"p.(Leu41Phe)"	""
"0000277526"	"00001248"	"10"	"1236"	"0"	"1236"	"0"	"c.1236C>T"	"r.(?)"	"p.(Asp412=)"	""
"0000277527"	"00001248"	"50"	"129"	"0"	"134"	"0"	"c.129_134del"	"r.(?)"	"p.(Leu44_Leu45del)"	""
"0000277528"	"00001248"	"30"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	""
"0000277529"	"00001248"	"10"	"1938"	"0"	"1938"	"0"	"c.1938C>T"	"r.(?)"	"p.(Leu646=)"	""
"0000277530"	"00001248"	"50"	"2165"	"0"	"2165"	"0"	"c.2165G>A"	"r.(?)"	"p.(Arg722Gln)"	""
"0000277531"	"00001248"	"10"	"2181"	"0"	"2181"	"0"	"c.2181C>A"	"r.(?)"	"p.(Gly727=)"	""
"0000277532"	"00001248"	"10"	"2259"	"0"	"2259"	"0"	"c.2259C>T"	"r.(?)"	"p.(Pro753=)"	""
"0000277533"	"00001248"	"10"	"2491"	"0"	"2491"	"0"	"c.2491C>T"	"r.(?)"	"p.(Leu831=)"	""
"0000277534"	"00001248"	"10"	"2682"	"0"	"2682"	"0"	"c.2682C>T"	"r.(?)"	"p.(Ala894=)"	""
"0000277535"	"00001248"	"10"	"2944"	"17"	"2944"	"17"	"c.2944+17C>G"	"r.(=)"	"p.(=)"	""
"0000277536"	"00001248"	"10"	"369"	"0"	"369"	"0"	"c.369C>T"	"r.(?)"	"p.(Gly123=)"	""
"0000277537"	"00001248"	"10"	"408"	"0"	"408"	"0"	"c.408C>T"	"r.(?)"	"p.(Ala136=)"	""
"0000277538"	"00001248"	"50"	"482"	"0"	"482"	"0"	"c.482C>T"	"r.(?)"	"p.(Thr161Met)"	""
"0000277539"	"00001248"	"50"	"74"	"0"	"74"	"0"	"c.74C>T"	"r.(?)"	"p.(Ser25Phe)"	""
"0000281201"	"00001248"	"10"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	""
"0000288893"	"00001248"	"10"	"1119"	"0"	"1119"	"0"	"c.1119G>A"	"r.(?)"	"p.(Val373=)"	""
"0000288894"	"00001248"	"50"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Met419Ile)"	""
"0000288895"	"00001248"	"50"	"129"	"0"	"134"	"0"	"c.129_134del"	"r.(?)"	"p.(Leu44_Leu45del)"	""
"0000288896"	"00001248"	"10"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	""
"0000288897"	"00001248"	"50"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Ser)"	""
"0000288898"	"00001248"	"50"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Thr839Met)"	""
"0000288899"	"00001248"	"50"	"2629"	"0"	"2629"	"0"	"c.2629G>C"	"r.(?)"	"p.(Glu877Gln)"	""
"0000288900"	"00001248"	"10"	"3225"	"-7"	"3225"	"-7"	"c.3225-7C>T"	"r.(=)"	"p.(=)"	""
"0000288901"	"00001248"	"10"	"61"	"0"	"61"	"0"	"c.61T>C"	"r.(?)"	"p.(Trp21Arg)"	""
"0000288902"	"00001248"	"30"	"74"	"0"	"74"	"0"	"c.74C>T"	"r.(?)"	"p.(Ser25Phe)"	""
"0000338771"	"00001248"	"10"	"-10"	"5"	"-10"	"5"	"c.-10+5A>G"	"r.spl?"	"p.?"	""
"0000338772"	"00001248"	"30"	"3337"	"-14"	"3337"	"-14"	"c.*25-14G>A"	"r.(=)"	"p.(=)"	""
"0000338773"	"00001248"	"10"	"3455"	"0"	"3455"	"0"	"c.*143T>C"	"r.(=)"	"p.(=)"	""
"0000340463"	"00001248"	"10"	"741"	"0"	"741"	"0"	"c.741C>T"	"r.(?)"	"p.(His247=)"	""
"0000340464"	"00001248"	"30"	"1371"	"0"	"1371"	"0"	"c.1371C>T"	"r.(?)"	"p.(Cys457=)"	""
"0000340465"	"00001248"	"10"	"2109"	"0"	"2109"	"0"	"c.2109G>A"	"r.(?)"	"p.(Ala703=)"	""
"0000340466"	"00001248"	"10"	"2517"	"0"	"2517"	"0"	"c.2517G>A"	"r.(?)"	"p.(Thr839=)"	""
"0000341487"	"00001248"	"10"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	""
"0000342738"	"00001248"	"30"	"1093"	"0"	"1093"	"0"	"c.1093C>T"	"r.(?)"	"p.(Arg365Trp)"	""
"0000343326"	"00001248"	"50"	"2224"	"0"	"2224"	"0"	"c.2224C>T"	"r.(?)"	"p.(Arg742Cys)"	""
"0000343347"	"00001248"	"70"	"2303"	"0"	"2303"	"0"	"c.2303G>A"	"r.(?)"	"p.(Arg768Gln)"	""
"0000343348"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000343409"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000343410"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000344445"	"00001248"	"70"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Cys672Tyr)"	""
"0000345578"	"00001248"	"50"	"2620"	"0"	"2620"	"0"	"c.2620G>A"	"r.(?)"	"p.(Glu874Lys)"	""
"0000346241"	"00001248"	"50"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Ser)"	""
"0000346538"	"00001248"	"50"	"2939"	"0"	"2939"	"0"	"c.2939A>C"	"r.(?)"	"p.(His980Pro)"	""
"0000348074"	"00001248"	"90"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000348453"	"00001248"	"50"	"1339"	"0"	"1339"	"0"	"c.1339C>T"	"r.(?)"	"p.(Pro447Ser)"	""
"0000349198"	"00001248"	"70"	"2652"	"0"	"2652"	"0"	"c.2652T>G"	"r.(?)"	"p.(Ser884Arg)"	""
"0000350507"	"00001248"	"30"	"1081"	"0"	"1081"	"0"	"c.1081G>A"	"r.(?)"	"p.(Val361Met)"	""
"0000350771"	"00001248"	"70"	"3224"	"1"	"3224"	"1"	"c.3224+1G>C"	"r.spl?"	"p.?"	""
"0000351378"	"00001248"	"10"	"2345"	"0"	"2345"	"0"	"c.2345T>A"	"r.(?)"	"p.(Leu782His)"	""
"0000358262"	"00001248"	"90"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	"2"
"0000358263"	"00001248"	"90"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000358264"	"00001248"	"90"	"2303"	"0"	"2303"	"0"	"c.2303G>A"	"r.(?)"	"p.(Arg768Gln)"	"12"
"0000358265"	"00001248"	"90"	"370"	"0"	"370"	"0"	"c.370A>T"	"r.(?)"	"p.(Arg124Trp)"	"4"
"0000358266"	"00001248"	"70"	"911"	"0"	"911"	"0"	"c.911C>A"	"r.(?)"	"p.(Pro304His)"	"10"
"0000358442"	"00001248"	"70"	"938"	"0"	"938"	"0"	"c.938T>C"	"r.(?)"	"p.(Met313Thr)"	"10"
"0000438637"	"00001248"	"90"	"2576"	"1"	"2576"	"1"	"c.2576+1G>A"	"r.spl?"	"p.?"	"13"
"0000438642"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000438663"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000438670"	"00001248"	"90"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000487558"	"00001248"	"90"	"1157"	"0"	"1157"	"0"	"c.1157del"	"r.(?)"	"p.(Gln386Argfs*9)"	"4"
"0000487559"	"00001248"	"70"	"982"	"0"	"982"	"0"	"c.982G>C"	"r.(?)"	"p.(Ala328Pro)"	"3"
"0000487560"	"00001248"	"70"	"997"	"0"	"997"	"0"	"c.997G>A"	"r.(?)"	"p.(Glu333Lys)"	"3"
"0000487561"	"00001248"	"70"	"2705"	"0"	"2705"	"0"	"c.2705T>C"	"r.(?)"	"p.(Val902Ala)"	"14"
"0000563625"	"00001248"	"30"	"-20"	"0"	"-20"	"0"	"c.-20del"	"r.(?)"	"p.(=)"	""
"0000563626"	"00001248"	"10"	"111"	"0"	"111"	"0"	"c.111G>A"	"r.(?)"	"p.(Pro37=)"	""
"0000563627"	"00001248"	"10"	"154"	"0"	"154"	"0"	"c.154G>T"	"r.(?)"	"p.(Ala52Ser)"	""
"0000563628"	"00001248"	"10"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	""
"0000563629"	"00001248"	"30"	"271"	"0"	"271"	"0"	"c.271G>C"	"r.(?)"	"p.(Ala91Pro)"	""
"0000563630"	"00001248"	"30"	"369"	"0"	"369"	"0"	"c.369C>T"	"r.(?)"	"p.(Gly123=)"	""
"0000563631"	"00001248"	"90"	"450"	"0"	"450"	"0"	"c.450G>A"	"r.(?)"	"p.(Trp150Ter)"	""
"0000563632"	"00001248"	"50"	"576"	"0"	"576"	"0"	"c.576C>A"	"r.(?)"	"p.(Asp192Glu)"	""
"0000563633"	"00001248"	"50"	"730"	"0"	"730"	"0"	"c.730A>C"	"r.(?)"	"p.(Met244Leu)"	""
"0000563634"	"00001248"	"10"	"921"	"0"	"921"	"0"	"c.921C>T"	"r.(?)"	"p.(Ala307=)"	""
"0000563635"	"00001248"	"30"	"921"	"0"	"921"	"0"	"c.921C>T"	"r.(?)"	"p.(Ala307=)"	""
"0000563636"	"00001248"	"10"	"1026"	"6"	"1026"	"6"	"c.1026+6C>T"	"r.(=)"	"p.(=)"	""
"0000563642"	"00001248"	"50"	"1446"	"0"	"1446"	"0"	"c.1446C>A"	"r.(?)"	"p.(Phe482Leu)"	""
"0000563643"	"00001248"	"50"	"1619"	"0"	"1619"	"0"	"c.1619G>A"	"r.(?)"	"p.(Arg540His)"	""
"0000563644"	"00001248"	"30"	"1827"	"0"	"1827"	"0"	"c.1827C>T"	"r.(?)"	"p.(Ala609=)"	""
"0000563645"	"00001248"	"50"	"2059"	"0"	"2059"	"0"	"c.2059C>T"	"r.(?)"	"p.(His687Tyr)"	""
"0000563646"	"00001248"	"50"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Ser)"	""
"0000563648"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000563649"	"00001248"	"50"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000563650"	"00001248"	"10"	"2413"	"-14"	"2413"	"-14"	"c.2413-14C>T"	"r.(=)"	"p.(=)"	""
"0000563651"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000563654"	"00001248"	"50"	"2752"	"0"	"2752"	"0"	"c.2752T>C"	"r.(?)"	"p.(Ser918Pro)"	""
"0000563655"	"00001248"	"70"	"3025"	"0"	"3025"	"0"	"c.3025A>C"	"r.(?)"	"p.(Met1009Leu)"	""
"0000563657"	"00001248"	"30"	"3337"	"-6"	"3337"	"-6"	"c.*25-6C>T"	"r.(=)"	"p.(=)"	""
"0000563658"	"00001248"	"30"	"3337"	"-5"	"3337"	"-5"	"c.*25-5C>T"	"r.spl?"	"p.?"	""
"0000604400"	"00001248"	"70"	"1991"	"0"	"1991"	"0"	"c.1991A>C"	"r.(?)"	"p.(His664Pro)"	"10"
"0000604401"	"00001248"	"70"	"2984"	"0"	"2984"	"0"	"c.2984G>A"	"r.(?)"	"p.(Arg995Gln)"	"16"
"0000604483"	"00001248"	"70"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	"14"
"0000604484"	"00001248"	"70"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660*)"	"10"
"0000604485"	"00001248"	"70"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	"16"
"0000604486"	"00001248"	"70"	"1991"	"0"	"1991"	"0"	"c.1991A>C"	"r.(?)"	"p.(His664Pro)"	"10"
"0000604487"	"00001248"	"70"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	"14"
"0000604519"	"00001248"	"70"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	"14"
"0000604520"	"00001248"	"70"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	"14/20"
"0000604521"	"00001248"	"70"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	"16"
"0000604522"	"00001248"	"70"	"2818"	"0"	"2818"	"0"	"c.2818C>T"	"r.(?)"	"p.(Arg940Trp)"	"15"
"0000604523"	"00001248"	"70"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	"16"
"0000604524"	"00001248"	"70"	"1790"	"0"	"1790"	"0"	"c.1790G>A"	"r.(?)"	"p.(Gly597Glu)"	"9"
"0000604525"	"00001248"	"50"	"1379"	"-1"	"1566"	"1"	"c.(1378+1_1379-1)_(1566+1_1567-1)dup"	"r.?"	"p.?"	""
"0000604526"	"00001248"	"70"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660*)"	"10/20"
"0000604527"	"00001248"	"50"	"2947"	"0"	"2947"	"0"	"c.2947C>A"	"r.(?)"	"p.(Pro983Thr)"	"16"
"0000604528"	"00001248"	"50"	"2960"	"0"	"2960"	"0"	"c.2960G>C"	"r.(?)"	"p.(Gly987Ala)"	"16"
"0000604568"	"00001248"	"70"	"2984"	"0"	"2984"	"0"	"c.2984G>A"	"r.(?)"	"p.(Arg995Gln)"	"16"
"0000604569"	"00001248"	"50"	"3044"	"-1"	"3044"	"-1"	"c.3044-1G>C"	"r.spl"	"p.?"	"16i"
"0000616907"	"00001248"	"30"	"1078"	"0"	"1078"	"0"	"c.1078G>A"	"r.(?)"	"p.(Gly360Ser)"	""
"0000616908"	"00001248"	"30"	"1236"	"0"	"1236"	"0"	"c.1236C>T"	"r.(?)"	"p.(Asp412=)"	""
"0000616909"	"00001248"	"50"	"1262"	"0"	"1262"	"0"	"c.1262A>G"	"r.(?)"	"p.(Asp421Gly)"	""
"0000616910"	"00001248"	"30"	"1513"	"0"	"1513"	"0"	"c.1513C>T"	"r.(?)"	"p.(Leu505=)"	""
"0000616911"	"00001248"	"50"	"1979"	"0"	"1979"	"0"	"c.1979G>A"	"r.(?)"	"p.(Arg660Gln)"	""
"0000616912"	"00001248"	"50"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795Trp)"	""
"0000623788"	"00001248"	"10"	"1029"	"0"	"1029"	"0"	"c.1029C>T"	"r.(?)"	"p.(Val343=)"	""
"0000630990"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000649748"	"00001248"	"50"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	""
"0000649749"	"00001248"	"70"	"416"	"0"	"416"	"0"	"c.416T>C"	"r.(?)"	"p.(Leu139Pro)"	""
"0000658293"	"00001248"	"30"	"142"	"0"	"142"	"0"	"c.142C>T"	"r.(?)"	"p.(Pro48Ser)"	""
"0000658294"	"00001248"	"10"	"1566"	"17"	"1566"	"17"	"c.1566+17G>A"	"r.(=)"	"p.(=)"	""
"0000658295"	"00001248"	"50"	"2837"	"0"	"2837"	"0"	"c.2837C>T"	"r.(?)"	"p.(Ala946Val)"	""
"0000668254"	"00001248"	"90"	"2563"	"0"	"2563"	"0"	"c.2563C>T"	"r.(?)"	"p.(Gln855*)"	""
"0000669429"	"00001248"	"70"	"416"	"0"	"416"	"0"	"c.416T>C"	"r.(?)"	"p.(Leu139Pro)"	""
"0000681069"	"00001248"	"30"	"49"	"0"	"49"	"0"	"c.49T>C"	"r.(?)"	"p.(Cys17Arg)"	""
"0000681070"	"00001248"	"50"	"962"	"0"	"962"	"0"	"c.962T>A"	"r.(?)"	"p.(Val321Glu)"	""
"0000681071"	"00001248"	"30"	"1938"	"0"	"1938"	"0"	"c.1938C>T"	"r.(?)"	"p.(Leu646=)"	""
"0000681072"	"00001248"	"50"	"1958"	"0"	"1958"	"0"	"c.1958G>A"	"r.(?)"	"p.(Gly653Glu)"	""
"0000684390"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000684391"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000684392"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000684393"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000684394"	"00001248"	"70"	"2747"	"0"	"2747"	"0"	"c.2747T>C"	"r.(?)"	"p.(Ile916Thr)"	"14"
"0000684530"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000684652"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000684676"	"00001248"	"70"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000684677"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000684708"	"00001248"	"50"	"2891"	"0"	"2891"	"0"	"c.2891G>T"	"r.(?)"	"p.(Arg964Leu)"	""
"0000684799"	"00001248"	"30"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	""
"0000685231"	"00001248"	"90"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000685232"	"00001248"	"90"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000685233"	"00001248"	"70"	"1672"	"0"	"1672"	"0"	"c.1672G>A"	"r.(?)"	"p.(Asp558Asn)"	""
"0000685234"	"00001248"	"70"	"1992"	"0"	"1992"	"0"	"c.1992T>G"	"r.(?)"	"p.(His664Gln)"	""
"0000685235"	"00001248"	"90"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	""
"0000685236"	"00001248"	"70"	"2303"	"0"	"2303"	"0"	"c.2303G>A"	"r.(?)"	"p.(Arg768Gln)"	""
"0000685237"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000685238"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000685239"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000685240"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000685241"	"00001248"	"70"	"2521"	"0"	"2521"	"0"	"c.2521G>A"	"r.(?)"	"p.(Glu841Lys)"	""
"0000685242"	"00001248"	"70"	"2538"	"0"	"2538"	"0"	"c.2538G>C"	"r.(?)"	"p.(Lys846Asn)"	""
"0000685243"	"00001248"	"70"	"2618"	"0"	"2618"	"0"	"c.2618C>G"	"r.(?)"	"p.(Pro873Arg)"	""
"0000685244"	"00001248"	"70"	"2704"	"0"	"2704"	"0"	"c.2704G>T"	"r.(?)"	"p.(Val902Leu)"	""
"0000685831"	"00001248"	"70"	"1138"	"0"	"1138"	"0"	"c.1138C>T"	"r.(?)"	"p.(Arg380Cys)"	""
"0000685842"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000685843"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000685844"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000685845"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000685846"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000685847"	"00001248"	"90"	"2538"	"0"	"2538"	"0"	"c.2538G>C"	"r.(?)"	"p.(Lys846Asn)"	""
"0000685848"	"00001248"	"90"	"2521"	"0"	"2521"	"0"	"c.2521G>A"	"r.(?)"	"p.(Glu841Lys)"	""
"0000692515"	"00001248"	"30"	"1518"	"0"	"1518"	"0"	"c.1518C>T"	"r.(?)"	"p.(Thr506=)"	""
"0000692516"	"00001248"	"50"	"2263"	"1"	"2263"	"1"	"c.2263+1G>A"	"r.spl?"	"p.?"	""
"0000710234"	"00001248"	"70"	"982"	"0"	"982"	"0"	"c.982G>C"	"r.(?)"	"p.(Ala328Pro)"	""
"0000710236"	"00001248"	"90"	"1157"	"0"	"1157"	"0"	"c.1157del"	"r.(?)"	"p.(Gln386Argfs*9)"	""
"0000710238"	"00001248"	"90"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000710280"	"00001248"	"70"	"2705"	"0"	"2705"	"0"	"c.2705T>C"	"r.(?)"	"p.(Val902Ala)"	""
"0000710315"	"00001248"	"90"	"914"	"0"	"914"	"0"	"c.914del"	"r.(?)"	"p.(His305Profs*90)"	""
"0000710339"	"00001248"	"70"	"997"	"0"	"997"	"0"	"c.997G>A"	"r.(?)"	"p.(Glu333Lys)"	""
"0000713275"	"00001248"	"70"	"898"	"0"	"905"	"0"	"c.898_905del"	"r.(?)"	"p.(Leu301Glyfs*15)"	""
"0000713343"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000713381"	"00001248"	"90"	"3099"	"0"	"3100"	"0"	"c.3099_3100insCGTGCTCT"	"r.(?)"	"p.(Gly1034Argfs*15)"	""
"0000713413"	"00001248"	"90"	"238"	"0"	"252"	"0"	"c.238_252del"	"r.(?)"	"p.(Ala80_Leu84del)"	""
"0000713761"	"00001248"	"90"	"307"	"0"	"307"	"0"	"c.307G>A"	"r.(?)"	"p.(Glu103Lys)"	""
"0000714033"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000714062"	"00001248"	"70"	"2595"	"0"	"2595"	"0"	"c.2595del"	"r.(?)"	"p.(Lys866Argfs*14)"	""
"0000714101"	"00001248"	"70"	"2837"	"0"	"2837"	"0"	"c.2837C>A"	"r.(?)"	"p.(Ala946Glu)"	""
"0000729754"	"00001248"	"70"	"514"	"0"	"514"	"0"	"c.514C>T"	"r.(?)"	"p.(Leu172Phe)"	""
"0000730671"	"00001248"	"90"	"2492"	"0"	"2492"	"0"	"c.2492T>C"	"r.(?)"	"p.(Leu831Pro)"	"13"
"0000730672"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000730673"	"00001248"	"90"	"380"	"0"	"380"	"0"	"c.380C>T"	"r.(?)"	"p.(Pro127Leu)"	"2"
"0000730674"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000730675"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000730676"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000730820"	"00001248"	"30"	"1618"	"0"	"1618"	"0"	"c.1618C>T"	"r.(?)"	"p.(Arg540Cys)"	"7"
"0000730994"	"00001248"	"70"	"2080"	"0"	"2080"	"0"	"c.2080C>T"	"r.(?)"	"p.(Gln694*)"	""
"0000731051"	"00001248"	"70"	"1009"	"0"	"1010"	"0"	"c.1009_1010insCAGCAGCT"	"r.(?)"	"p.(Asp337Alafs*61)"	""
"0000731100"	"00001248"	"50"	"3247"	"0"	"3247"	"0"	"c.3247C>A"	"r.(?)"	"p.(Leu1083Met)"	""
"0000731137"	"00001248"	"90"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000731260"	"00001248"	"70"	"307"	"0"	"307"	"0"	"c.307G>A"	"r.(?)"	"p.(Glu103Lys)"	""
"0000731261"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000731262"	"00001248"	"70"	"91"	"0"	"91"	"0"	"c.91dup"	"r.(?)"	"p.(Arg31Profs*288)"	""
"0000731263"	"00001248"	"70"	"2646"	"0"	"2646"	"0"	"c.2646C>G"	"r.(?)"	"p.(Tyr882*)"	""
"0000731264"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000731283"	"00001248"	"70"	"2595"	"0"	"2595"	"0"	"c.2595del"	"r.(?)"	"p.(Lys866Argfs*14)"	""
"0000731284"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516del"	"r.(?)"	"p.(Thr839Argfs*27)"	""
"0000731285"	"00001248"	"70"	"307"	"0"	"307"	"0"	"c.307G>A"	"r.(?)"	"p.(Glu103Lys)"	""
"0000731286"	"00001248"	"70"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795Trp)"	""
"0000731306"	"00001248"	"70"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660*)"	""
"0000731307"	"00001248"	"90"	"1991"	"0"	"1991"	"0"	"c.1991A>C"	"r.(?)"	"p.(His664Pro)"	""
"0000731308"	"00001248"	"90"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000731309"	"00001248"	"90"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000731310"	"00001248"	"70"	"2818"	"0"	"2818"	"0"	"c.2818C>T"	"r.(?)"	"p.(Arg940Trp)"	""
"0000731334"	"00001248"	"70"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	""
"0000731335"	"00001248"	"90"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000731336"	"00001248"	"70"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	""
"0000731337"	"00001248"	"70"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	""
"0000731435"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000731445"	"00001248"	"70"	"1669"	"-1"	"1669"	"-1"	"c.1669-1G>A"	"r.spl"	"p.?"	""
"0000731483"	"00001248"	"90"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	""
"0000731484"	"00001248"	"90"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	""
"0000732446"	"00001248"	"90"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Ser)"	""
"0000732483"	"00001248"	"50"	"2765"	"0"	"2765"	"0"	"c.2765A>G"	"r.(?)"	"p.(Tyr922Cys)"	""
"0000732560"	"00001248"	"90"	"2375"	"0"	"2375"	"0"	"c.2375C>T"	"r.(?)"	"p.(Pro792Leu)"	""
"0000732579"	"00001248"	"50"	"1724"	"0"	"1724"	"0"	"c.1724C>T"	"r.(?)"	"p.(Pro575Leu)"	""
"0000732616"	"00001248"	"90"	"2950"	"0"	"2950"	"0"	"c.2950T>C"	"r.(?)"	"p.(Cys984Arg)"	""
"0000732818"	"00001248"	"70"	"2549"	"0"	"2550"	"0"	"c.2549_2550del"	"r.(?)"	"p.(Asp850Alafs*13)"	""
"0000732864"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000732865"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000733160"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000734699"	"00001248"	"70"	"1138"	"0"	"1138"	"0"	"c.1138C>T"	"r.(?)"	"p.(Arg380Cys)"	""
"0000735621"	"00001248"	"90"	"2303"	"0"	"2303"	"0"	"c.2303G>A"	"r.(?)"	"p.(Arg768Gln)"	""
"0000735622"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000735623"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000735624"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000735625"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000735626"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000735743"	"00001248"	"90"	"1339"	"0"	"1339"	"0"	"c.1339C>T"	"r.(?)"	"p.(Pro447Ser)"	""
"0000735818"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000735819"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000735901"	"00001248"	"70"	"3119"	"0"	"3119"	"0"	"c.3119G>A"	"r.(?)"	"p.(Arg1040Gln)"	""
"0000735929"	"00001248"	"70"	"160"	"0"	"160"	"0"	"c.160T>A"	"r.(?)"	"p.(Phe54Ile)"	""
"0000735930"	"00001248"	"70"	"1912"	"0"	"1912"	"0"	"c.1912C>A"	"r.(?)"	"p.(Leu638Met)"	""
"0000736356"	"00001248"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736359"	"00001248"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736360"	"00001248"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736361"	"00001248"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736362"	"00001248"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736363"	"00001248"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736364"	"00001248"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736365"	"00001248"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736366"	"00001248"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000736375"	"00001248"	"10"	"2182"	"0"	"2182"	"0"	"c.2182G>A"	"r.(?)"	"p.(Asp728Asn)"	"11"
"0000736376"	"00001248"	"10"	"134"	"0"	"134"	"0"	"c.134T>C"	"r.(?)"	"p.(Leu45Pro)"	"2"
"0000736377"	"00001248"	"10"	"859"	"37"	"859"	"37"	"c.859+37G>T"	"r.spl"	"p.?"	"3"
"0000736387"	"00001248"	"90"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	"8"
"0000736388"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000736389"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000736390"	"00001248"	"90"	"2837"	"0"	"2837"	"0"	"c.2837C>T"	"r.(?)"	"p.(Ala946Val)"	"15"
"0000736391"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000736392"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000736393"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000736394"	"00001248"	"90"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	"8"
"0000736836"	"00001248"	"50"	"129"	"0"	"134"	"0"	"c.129_134del"	"r.(?)"	"p.(Leu44_Leu45del)"	""
"0000759829"	"00001248"	"70"	"406"	"0"	"406"	"0"	"c.406G>C"	"r.(?)"	"p.(Ala136Pro)"	""
"0000759830"	"00001248"	"70"	"752"	"0"	"752"	"0"	"c.752T>C"	"r.(?)"	"p.(Leu251Pro)"	""
"0000759831"	"00001248"	"70"	"1915"	"0"	"1915"	"0"	"c.1915G>T"	"r.(?)"	"p.(Asp639Tyr)"	""
"0000759832"	"00001248"	"70"	"1211"	"0"	"1211"	"0"	"c.1211T>C"	"r.(?)"	"p.(Leu404Pro)"	""
"0000759833"	"00001248"	"70"	"2356"	"0"	"2356"	"0"	"c.2356C>T"	"r.(?)"	"p.(Gln786Ter)"	""
"0000759834"	"00001248"	"70"	"2643"	"0"	"2644"	"0"	"c.2643_2644del"	"r.(?)"	"p.(Tyr882LeufsTer2)"	""
"0000759864"	"00001248"	"70"	"935"	"0"	"935"	"0"	"c.935C>T"	"r.(?)"	"p.(Thr312Met)"	""
"0000759865"	"00001248"	"70"	"2263"	"0"	"2263"	"0"	"c.2263G>T"	"r.(?)"	"p.(Glu755Ter)"	""
"0000759866"	"00001248"	"70"	"2364"	"0"	"2364"	"0"	"c.2364G>A"	"r.(?)"	"p.(Trp788Ter)"	""
"0000759867"	"00001248"	"70"	"2770"	"-2"	"2770"	"-2"	"c.2770-2A>G"	"r.(?)"	"p.?"	""
"0000759868"	"00001248"	"70"	"721"	"0"	"721"	"0"	"c.721G>C"	"r.(?)"	"p.(Ala241Pro)"	""
"0000760129"	"00001248"	"50"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	""
"0000760138"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000760139"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000760145"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	""
"0000760184"	"00001248"	"50"	"3175"	"0"	"3175"	"0"	"c.3175A>T"	"r.(?)"	"p.(Arg1059*)"	""
"0000760187"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	""
"0000760192"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	""
"0000760202"	"00001248"	"70"	"2861"	"0"	"2861"	"0"	"c.2861T>C"	"r.(?)"	"p.(Leu954Pro)"	""
"0000760218"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	""
"0000760230"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	""
"0000760231"	"00001248"	"50"	"380"	"0"	"380"	"0"	"c.380C>T"	"r.(?)"	"p.(Pro127Leu)"	""
"0000760314"	"00001248"	"70"	"2511"	"0"	"2512"	"0"	"c.2511_2512delinsCA"	"r.(?)"	"p.(Glu837_Arg838delinsAspSer)"	""
"0000760436"	"00001248"	"70"	"1052"	"0"	"1052"	"0"	"c.1052A>G"	"r.(?)"	"p.(Tyr351Cys)"	""
"0000760460"	"00001248"	"70"	"2595"	"0"	"2595"	"0"	"c.2595del"	"r.(?)"	"p.(Lys866Argfs*14)"	""
"0000763874"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000763875"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000763876"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000763877"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000763878"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000764026"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000764054"	"00001248"	"70"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(?)"	"p.(Arg588Trp)"	""
"0000764894"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000765440"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000765744"	"00001248"	"70"	"416"	"0"	"416"	"0"	"c.416T>C"	"r.(?)"	"p.(Leu139Pro)"	""
"0000765814"	"00001248"	"70"	"2285"	"0"	"2285"	"0"	"c.2285del"	"r.(?)"	"p.(Ser762ThrfsTer22)"	""
"0000765889"	"00001248"	"70"	"527"	"0"	"527"	"0"	"c.527T>C"	"r.(?)"	"p.(Leu176Pro)"	""
"0000765903"	"00001248"	"70"	"914"	"0"	"914"	"0"	"c.914del"	"r.(?)"	"p.(His305ProfsTer90)"	""
"0000783269"	"00001248"	"90"	"994"	"0"	"994"	"0"	"c.994del"	"r.(?)"	"p.(Arg332AlafsTer63)"	"3"
"0000783793"	"00001248"	"90"	"3020"	"0"	"3020"	"0"	"c.3020C>T"	"r.(?)"	"p.(Ser1007Leu)"	""
"0000783794"	"00001248"	"90"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660Ter)"	""
"0000783815"	"00001248"	"90"	"2113"	"1"	"2113"	"1"	"c.2113+1G>A"	"r.spl"	"p.?"	""
"0000783816"	"00001248"	"90"	"2481"	"0"	"2481"	"0"	"c.2481C>G"	"r.(?)"	"p.(Tyr827Ter)"	""
"0000783817"	"00001248"	"90"	"82"	"0"	"82"	"0"	"c.82dup"	"r.(?)"	"p.(Arg28ProfsTer291)"	""
"0000783818"	"00001248"	"90"	"849"	"0"	"849"	"0"	"c.849C>A"	"r.(?)"	"p.(Tyr283Ter)"	""
"0000783852"	"00001248"	"50"	"2039"	"0"	"2039"	"0"	"c.2039T>A"	"r.(?)"	"p.(Leu680His)"	""
"0000783853"	"00001248"	"50"	"1070"	"0"	"1070"	"0"	"c.1070T>G"	"r.(?)"	"p.(Leu357Arg)"	""
"0000783854"	"00001248"	"50"	"835"	"0"	"835"	"0"	"c.835G>A"	"r.(?)"	"p.(Asp279Asn)"	""
"0000783855"	"00001248"	"50"	"935"	"0"	"935"	"0"	"c.935C>T"	"r.(?)"	"p.(Thr312Met)"	""
"0000783856"	"00001248"	"50"	"2984"	"0"	"2984"	"0"	"c.2984G>T"	"r.(?)"	"p.(Arg995Leu)"	""
"0000783857"	"00001248"	"50"	"2413"	"-1"	"2413"	"-1"	"c.2413-1G>C"	"r.spl"	"p.?"	""
"0000783858"	"00001248"	"50"	"2576"	"1"	"2576"	"1"	"c.2576+1G>A"	"r.spl"	"p.?"	""
"0000783870"	"00001248"	"50"	"935"	"0"	"935"	"0"	"c.935C>G"	"r.(?)"	"p.(Thr312Arg)"	""
"0000783902"	"00001248"	"90"	"2861"	"0"	"2861"	"0"	"c.2861T>C"	"r.(?)"	"p.(Leu954Pro)"	""
"0000783917"	"00001248"	"90"	"3020"	"0"	"3020"	"0"	"c.3020C>T"	"r.(?)"	"p.(Ser1007Leu)"	""
"0000783918"	"00001248"	"90"	"2303"	"0"	"2303"	"0"	"c.2303G>A"	"r.(?)"	"p.(Arg768Gln)"	""
"0000783919"	"00001248"	"90"	"1116"	"0"	"1119"	"0"	"c.1116_1119dup"	"r.(?)"	"p.(Ser374GlyfsTer74)"	""
"0000783946"	"00001248"	"50"	"2804"	"0"	"2804"	"0"	"c.2804C>T"	"r.(?)"	"p.(Ser935Leu)"	""
"0000783947"	"00001248"	"50"	"2008"	"0"	"2008"	"0"	"c.2008C>T"	"r.(?)"	"p.(Arg670Trp)"	""
"0000783948"	"00001248"	"50"	"3166"	"0"	"3166"	"0"	"c.3166C>G"	"r.(?)"	"p.(Leu1056Val)"	""
"0000783949"	"00001248"	"50"	"995"	"0"	"995"	"0"	"c.995G>C"	"r.(?)"	"p.(Arg332Pro)"	""
"0000783950"	"00001248"	"50"	"2576"	"0"	"2576"	"0"	"c.2576C>T"	"r.(?)"	"p.(Pro859Leu)"	""
"0000783951"	"00001248"	"50"	"3056"	"0"	"3056"	"0"	"c.3056A>G"	"r.(?)"	"p.(His1019Arg)"	""
"0000783952"	"00001248"	"50"	"3037"	"0"	"3037"	"0"	"c.3037G>A"	"r.(?)"	"p.(Gly1013Arg)"	""
"0000785389"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000785455"	"00001248"	"90"	"2283"	"0"	"2283"	"0"	"c.2283del"	"r.(?)"	"p.(Ser762AlafsTer22)"	""
"0000787759"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000788530"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000788550"	"00001248"	"70"	"1401"	"0"	"1401"	"0"	"c.1401dup"	"r.(?)"	"p.(Leu468SerfsTer89)"	""
"0000788552"	"00001248"	"70"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660Ter)"	""
"0000788553"	"00001248"	"70"	"1401"	"0"	"1401"	"0"	"c.1401dup"	"r.(?)"	"p.(Leu468SerfsTer89)"	""
"0000788556"	"00001248"	"70"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660Ter)"	""
"0000788561"	"00001248"	"70"	"2285"	"0"	"2285"	"0"	"c.2285del"	"r.(?)"	"p.(Ser762ThrfsTer22)"	""
"0000788596"	"00001248"	"50"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000788597"	"00001248"	"50"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000788598"	"00001248"	"50"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000788599"	"00001248"	"50"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000788600"	"00001248"	"50"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000788601"	"00001248"	"50"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000789828"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl?"	"p.?"	"15i"
"0000789829"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl?"	"p.?"	"15i"
"0000789830"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl?"	"p.?"	"15i"
"0000789831"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl?"	"p.?"	"15i"
"0000789832"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl?"	"p.?"	"15i"
"0000789833"	"00001248"	"70"	"2994"	"1"	"2994"	"1"	"c.2994+1del"	"r.spl?"	"p.?"	"16"
"0000789834"	"00001248"	"70"	"2994"	"1"	"2994"	"1"	"c.2994+1del"	"r.spl?"	"p.?"	"16"
"0000790084"	"00001248"	"90"	"660"	"0"	"660"	"0"	"c.660C>T"	"r.(=)"	"p.(=)"	"2"
"0000790085"	"00001248"	"90"	"660"	"0"	"660"	"0"	"c.660C>T"	"r.(=)"	"p.(=)"	"2"
"0000790086"	"00001248"	"90"	"660"	"0"	"660"	"0"	"c.660C>T"	"r.(=)"	"p.(=)"	"2"
"0000790089"	"00001248"	"10"	"782"	"0"	"782"	"0"	"c.782A"	"r.(?)"	"p.?"	"3"
"0000790093"	"00001248"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"2"
"0000790310"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790311"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790312"	"00001248"	"31"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790317"	"00001248"	"50"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790328"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790329"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790330"	"00001248"	"30"	"121"	"0"	"121"	"0"	"c.121C>T"	"r.(?)"	"p.(Leu41Phe)"	"2"
"0000790334"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790335"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790336"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790337"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790338"	"00001248"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	"10"
"0000790398"	"00001248"	"50"	"74"	"0"	"74"	"0"	"c.74C>T"	"r.(?)"	"p.(Ser25Phe)"	""
"0000790521"	"00001248"	"50"	"3098"	"0"	"3098"	"0"	"c.3098C>T"	"r.(?)"	"p.(Ser1033Leu)"	""
"0000790675"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000790683"	"00001248"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000791138"	"00001248"	"50"	"2798"	"0"	"2798"	"0"	"c.2798T>C"	"r.(?)"	"p.(Val933Ala)"	"15"
"0000791142"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000791143"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000791144"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000791145"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000791146"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000791199"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000791200"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000791587"	"00001248"	"70"	"2765"	"0"	"2765"	"0"	"c.2765A>G"	"r.(?)"	"p.(Tyr922Cys)"	"14"
"0000791598"	"00001248"	"90"	"2113"	"2"	"2113"	"2"	"c.2113+2dup"	"r.(?)"	"p.(?)"	"10i"
"0000791599"	"00001248"	"90"	"2113"	"2"	"2113"	"2"	"c.2113+2dup"	"r.(?)"	"p.(?)"	"10i"
"0000791608"	"00001248"	"70"	"2704"	"0"	"2704"	"0"	"c.2704G>C"	"r.(?)"	"p.(Val902Leu)"	"14"
"0000791620"	"00001248"	"90"	"2983"	"0"	"2983"	"0"	"c.2983C>T"	"r.(?)"	"p.(Arg995Trp)"	"16"
"0000791633"	"00001248"	"90"	"2714"	"0"	"2714"	"0"	"c.2714T>C"	"r.(?)"	"p.(Leu905Pro)"	"14"
"0000791634"	"00001248"	"90"	"2714"	"0"	"2714"	"0"	"c.2714T>C"	"r.(?)"	"p.(Leu905Pro)"	"14"
"0000791915"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000792134"	"00001248"	"90"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000792135"	"00001248"	"90"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000792136"	"00001248"	"90"	"1749"	"1"	"1749"	"1"	"c.1749+1G>T"	"r.spl?"	"p.?"	"8i"
"0000792137"	"00001248"	"90"	"1749"	"1"	"1749"	"1"	"c.1749+1G>T"	"r.spl?"	"p.?"	"8i"
"0000792138"	"00001248"	"90"	"2351"	"0"	"2351"	"0"	"c.2351T>G"	"r.(?)"	"p.(Met784Arg)"	"12"
"0000792139"	"00001248"	"90"	"2351"	"0"	"2351"	"0"	"c.2351T>G"	"r.(?)"	"p.(Met784Arg)"	"12"
"0000792140"	"00001248"	"90"	"308"	"0"	"308"	"0"	"c.308A>T"	"r.(?)"	"p.(Glu103Val)"	"2"
"0000792141"	"00001248"	"90"	"2182"	"0"	"2182"	"0"	"c.2182G>A"	"r.(?)"	"p.(Asp728Asn)"	"11"
"0000792142"	"00001248"	"90"	"308"	"0"	"308"	"0"	"c.308A>T"	"r.(?)"	"p.(Glu103Val)"	"2"
"0000792143"	"00001248"	"90"	"1979"	"0"	"1979"	"0"	"c.1979G>A"	"r.(?)"	"p.(Arg660Gln)"	"10"
"0000792144"	"00001248"	"90"	"1026"	"1"	"1026"	"1"	"c.1026+1G>A"	"r.spl?"	"p.?"	"3i"
"0000792145"	"00001248"	"90"	"1214"	"0"	"1216"	"0"	"c.1214_1216delinsCA"	"r.(?)"	"p.(Leu405Profs*83)"	"4"
"0000792146"	"00001248"	"90"	"1919"	"0"	"1919"	"0"	"c.1919G>A"	"r.(?)"	"p.(Trp640*)"	"9"
"0000792147"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000792162"	"00001248"	"90"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000792163"	"00001248"	"90"	"3078"	"0"	"3083"	"0"	"c.3078_3083dupGATTCT"	"r.(?)"	"p.(Ile1027_Leu1028dup)"	"17"
"0000792180"	"00001248"	"10"	"935"	"0"	"935"	"0"	"c.935C>T"	"r.(?)"	"p.(Thr312Met)"	"3"
"0000792181"	"00001248"	"10"	"3020"	"0"	"3020"	"0"	"c.3020C>T"	"r.(?)"	"p.(Ser1007Leu)"	"16"
"0000792183"	"00001248"	"10"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000792185"	"00001248"	"10"	"2200"	"0"	"2201"	"0"	"c.2200_2201delinsGC"	"r.(?)"	"p.(Ile734Ala)"	"11"
"0000792192"	"00001248"	"10"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000792259"	"00001248"	"30"	"1499"	"0"	"1499"	"0"	"c.1499C>T"	"r.(?)"	"p.(Pro500Leu)"	"6"
"0000792263"	"00001248"	"90"	"2917"	"0"	"2917"	"0"	"c.2917G>A"	"r.(?)"	"p.(Val973Met)"	"15"
"0000794112"	"00001248"	"70"	"2984"	"0"	"2984"	"0"	"c.2984G>A"	"r.(?)"	"p.(Arg995Gln)"	""
"0000794113"	"00001248"	"70"	"3044"	"-1"	"3044"	"-1"	"c.3044-1G>C"	"r.spl?"	"p.?"	""
"0000794328"	"00001248"	"90"	"1027"	"-2"	"1027"	"-2"	"c.1027-2A>G"	"r.spl"	"p.?"	"3i"
"0000794329"	"00001248"	"90"	"244"	"0"	"250"	"0"	"c.244_250dup"	"r.(?)"	"p.(Leu84Argfs*237)"	"2"
"0000795936"	"00001248"	"90"	"2660"	"0"	"2660"	"0"	"c.2660T>G"	"r.(?)"	"p.(Val887Gly)"	"14"
"0000795961"	"00001248"	"30"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000795965"	"00001248"	"70"	"4090"	"0"	"4090"	"0"	"c.4090G>T"	"r.(?)"	"p.?"	"20"
"0000795966"	"00001248"	"70"	"1956"	"1"	"1956"	"1"	"c.1956+1G>T"	"r.spl?"	"p.?"	"9i"
"0000795967"	"00001248"	"70"	"2954"	"0"	"2954"	"0"	"c.2954del"	"r.(?)"	"p.(Val985Glyfs*36)"	"16"
"0000795968"	"00001248"	"70"	"3034"	"0"	"3034"	"0"	"c.3034A>C"	"r.(?)"	"p.(Thr1012Pro)"	"16"
"0000795989"	"00001248"	"30"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000795990"	"00001248"	"30"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Gly928Glu)"	"15"
"0000795996"	"00001248"	"30"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000796006"	"00001248"	"30"	"835"	"0"	"835"	"0"	"c.835G>A"	"r.(?)"	"p.(Asp279Asn)"	"3"
"0000796049"	"00001248"	"90"	"2345"	"0"	"2345"	"0"	"c.2345T>A"	"r.(?)"	"p.(Leu782His)"	"12"
"0000796139"	"00001248"	"90"	"3118"	"0"	"3118"	"0"	"c.3118C>A"	"r.(=)"	"p.(=)"	"17"
"0000796145"	"00001248"	"90"	"3067"	"0"	"3075"	"0"	"c.3067_3075dup"	"r.(?)"	"p.(Ser1023_Val1025dup)"	"17"
"0000796146"	"00001248"	"90"	"3118"	"0"	"3118"	"0"	"c.3118C>A"	"r.(=)"	"p.(=)"	"17"
"0000796199"	"00001248"	"90"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	"4"
"0000796200"	"00001248"	"90"	"2598"	"0"	"2598"	"0"	"c.2598G>C"	"r.(?)"	"p.(Lys866Asn)"	"14"
"0000796201"	"00001248"	"90"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	"4"
"0000796202"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000796203"	"00001248"	"90"	"3271"	"0"	"3271"	"0"	"c.3271C>T"	"r.(?)"	"p.(Arg1091*)"	"19"
"0000796233"	"00001248"	"90"	"1116"	"0"	"1116"	"0"	"c.1116G>A"	"r.(?)"	"p.(Trp372*)"	"4"
"0000796252"	"00001248"	"90"	"2132"	"0"	"2132"	"0"	"c.2132C>T"	"r.(?)"	"p.(Pro711Leu)"	"11"
"0000796253"	"00001248"	"90"	"743"	"0"	"743"	"0"	"c.743C>G"	"r.(?)"	"p.(Ser248Trp)"	"3"
"0000796254"	"00001248"	"90"	"3224"	"1"	"3224"	"1"	"c.3224+1G>C"	"r.spl?"	"p.?"	"18i"
"0000796255"	"00001248"	"90"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	"4"
"0000796256"	"00001248"	"90"	"2678"	"0"	"2678"	"0"	"c.2678C>T"	"r.(?)"	"p.(Ser893Phe)"	"14"
"0000796257"	"00001248"	"90"	"1933"	"0"	"1933"	"0"	"c.1933T>C"	"r.(?)"	"p.(Ser645Pro)"	"9"
"0000796258"	"00001248"	"90"	"2207"	"0"	"2207"	"0"	"c.2207T>G"	"r.(?)"	"p.(Met736Arg)"	"11"
"0000796729"	"00001248"	"70"	"2359"	"0"	"2359"	"0"	"c.2359T>G"	"r.(?)"	"p.(Cys787Gly)"	"12"
"0000796738"	"00001248"	"90"	"1093"	"0"	"1106"	"0"	"c.1093_1106del"	"r.(?)"	"p.(Arg365Trpfs*77)"	"4"
"0000796746"	"00001248"	"90"	"1401"	"0"	"1401"	"0"	"c.1401dup"	"r.(?)"	"p.(Leu468Serfs*89)"	"5"
"0000796748"	"00001248"	"90"	"2766"	"0"	"2766"	"0"	"c.2766C>G"	"r.(?)"	"p.(Tyr922*)"	"14"
"0000796749"	"00001248"	"70"	"2927"	"0"	"2927"	"0"	"c.2927G>T"	"r.(?)"	"p.(Arg976Leu)"	"15"
"0000796826"	"00001248"	"90"	"2080"	"0"	"2080"	"0"	"c.2080C>T"	"r.(?)"	"p.(Gln694*)"	"10"
"0000796833"	"00001248"	"90"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	"2"
"0000796836"	"00001248"	"90"	"1401"	"0"	"1401"	"0"	"c.1401dup"	"r.(?)"	"p.(Leu468Serfs*89)"	"5"
"0000797412"	"00001248"	"70"	"1996"	"0"	"1996"	"0"	"c.1996C>T"	"r.(?)"	"p.(Arg666Trp)"	""
"0000797677"	"00001248"	"70"	"1433"	"0"	"1442"	"0"	"c.1433_1442dup"	"r.(?)"	"p.(Phe482Glyfs*78)"	""
"0000797678"	"00001248"	"70"	"2234"	"0"	"2234"	"0"	"c.2234del"	"r.(?)"	"p.(Pro745Leufs*39)"	""
"0000797679"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000797680"	"00001248"	"50"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000797681"	"00001248"	"50"	"74"	"0"	"74"	"0"	"c.74C>T"	"r.(?)"	"p.(Ser25Phe)"	""
"0000798014"	"00001248"	"50"	"74"	"0"	"74"	"0"	"c.74C>T"	"r.(?)"	"p.(Ser25Phe)"	""
"0000798015"	"00001248"	"50"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000798436"	"00001248"	"70"	"1720"	"0"	"1720"	"0"	"c.1720C>T"	"r.(?)"	"p.(Arg574Cys)"	"8"
"0000808328"	"00001248"	"50"	"74"	"0"	"74"	"0"	"c.74C>T"	"r.(?)"	"p.(Ser25Phe)"	""
"0000808329"	"00001248"	"50"	"1618"	"0"	"1618"	"0"	"c.1618C>T"	"r.(?)"	"p.(Arg540Cys)"	""
"0000808330"	"00001248"	"30"	"1776"	"0"	"1776"	"0"	"c.1776G>C"	"r.(?)"	"p.(Val592=)"	""
"0000808331"	"00001248"	"90"	"1996"	"0"	"1996"	"0"	"c.1996C>T"	"r.(?)"	"p.(Arg666Trp)"	""
"0000808332"	"00001248"	"50"	"3023"	"0"	"3023"	"0"	"c.3023G>T"	"r.(?)"	"p.(Arg1008Leu)"	""
"0000808333"	"00001248"	"30"	"3042"	"0"	"3042"	"0"	"c.3042G>A"	"r.(?)"	"p.(Leu1014=)"	""
"0000811497"	"00001248"	"70"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883LeufsTer13)"	""
"0000811498"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000811529"	"00001248"	"50"	"2891"	"0"	"2891"	"0"	"c.2891G>T"	"r.(?)"	"p.(Arg964Leu)"	""
"0000811952"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.R838H"	"p.(Arg838His)"
"0000811953"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.R838H"	"p.(Arg838His)"
"0000812464"	"00001248"	"70"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795Trp)"	"12"
"0000812469"	"00001248"	"70"	"1216"	"0"	"1216"	"0"	"c.1216G>C"	"r.(?)"	"p.(Asp406His)"	"4"
"0000812520"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000812721"	"00001248"	"90"	"129"	"0"	"134"	"0"	"c.129_134del"	"r.(?)"	"p.(Leu44_Leu45del)"	""
"0000812722"	"00001248"	"70"	"1315"	"0"	"1315"	"0"	"c.1315G>A"	"r.(?)"	"p.(Gly439Arg)"	""
"0000812920"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000812922"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000812924"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000812926"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000812928"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000812930"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000812932"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000812934"	"00001248"	"90"	"2114"	"-27"	"2263"	"18"	"c.2114-27_2263+18del"	"r.spl"	"p.Asp705_Glu754del"	""
"0000813018"	"00001248"	"70"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000813630"	"00001248"	"70"	"944"	"0"	"944"	"0"	"c.944G>C"	"r.(?)"	"p.(Cys315Ser)"	""
"0000813678"	"00001248"	"90"	"1582"	"0"	"1582"	"0"	"c.1582C>T"	"r.(?)"	"p.(Arg528*)"	""
"0000813695"	"00001248"	"90"	"2264"	"-2"	"2264"	"-2"	"c.2264-2A>G"	"r.spl"	"p.(?)"	""
"0000813700"	"00001248"	"90"	"2481"	"0"	"2481"	"0"	"c.2481C>G"	"r.(?)"	"p.(Tyr827*)"	""
"0000813707"	"00001248"	"90"	"2413"	"-1"	"2413"	"-1"	"c.2413-1G>A"	"r.spl"	"p.(?)"	""
"0000813708"	"00001248"	"90"	"174"	"0"	"174"	"0"	"c.174delC"	"r.(?)"	"p.(Leu59Trpfs*26)"	""
"0000813713"	"00001248"	"70"	"836"	"0"	"836"	"0"	"c.836A>T"	"r.(?)"	"p.(Asp279Val)"	""
"0000813715"	"00001248"	"90"	"2384"	"0"	"2384"	"0"	"c.2384G>A"	"r.(?)"	"p.(Arg795Gln)"	""
"0000813736"	"00001248"	"90"	"2132"	"0"	"2132"	"0"	"c.2132C>T"	"r.(?)"	"p.(Pro711Leu)"	""
"0000813761"	"00001248"	"70"	"2576"	"0"	"2576"	"0"	"c.2576C>T"	"r.(?)"	"p.(Pro859Leu)"	""
"0000813771"	"00001248"	"70"	"1214"	"0"	"1214"	"0"	"c.1214T>C"	"r.(?)"	"p.(Leu405Pro)"	""
"0000813777"	"00001248"	"90"	"2335"	"0"	"2335"	"0"	"c.2335G>T"	"r.(?)"	"p.(Glu779*)"	""
"0000813780"	"00001248"	"70"	"2364"	"0"	"2364"	"0"	"c.2364G>T"	"r.(?)"	"p.(Trp788Cys)"	""
"0000814620"	"00001248"	"70"	"2747"	"0"	"2747"	"0"	"c.2747T>C"	"r.(?)"	"p.(Ile916Thr)"	"14"
"0000814930"	"00001248"	"70"	"312"	"0"	"313"	"0"	"c.312_313dup"	"r.(?)"	"p.(Cys105Phefs*25)"	"2"
"0000814932"	"00001248"	"70"	"1378"	"151"	"1378"	"151"	"c.1378+151C>G"	"r.(?)"	"p.(?)"	"4i"
"0000815069"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000815283"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000815411"	"00001248"	"70"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(His664Arg)"	""
"0000817675"	"00001248"	"70"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(?)"	"p.(Arg588Trp)"	""
"0000817676"	"00001248"	"70"	"2190"	"0"	"2190"	"0"	"c.2190T>A"	"r.(?)"	"p.(Phe730Leu)"	""
"0000818421"	"00001248"	"90"	"1991"	"0"	"1991"	"0"	"c.1991A>C"	"r.(?)"	"p.(His664Pro)"	""
"0000818422"	"00001248"	"70"	"2984"	"0"	"2984"	"0"	"c.2984G>A"	"r.(?)"	"p.(Arg995Gln)"	""
"0000818423"	"00001248"	"90"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000818424"	"00001248"	"90"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660*)"	""
"0000818425"	"00001248"	"50"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	""
"0000818426"	"00001248"	"50"	"1991"	"0"	"1991"	"0"	"c.1991A>C"	"r.(?)"	"p.(His664Pro)"	""
"0000818427"	"00001248"	"90"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000818428"	"00001248"	"90"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000818429"	"00001248"	"90"	"2649"	"0"	"2649"	"0"	"c.2649del"	"r.(?)"	"p.(Phe883Leufs*13)"	""
"0000818430"	"00001248"	"50"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	""
"0000818431"	"00001248"	"50"	"2818"	"0"	"2818"	"0"	"c.2818C>T"	"r.(?)"	"p.(Arg940Trp)"	""
"0000818432"	"00001248"	"50"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	""
"0000818433"	"00001248"	"70"	"1790"	"0"	"1790"	"0"	"c.1790G>A"	"r.(?)"	"p.(Gly597Glu)"	""
"0000818434"	"00001248"	"70"	"1027"	"-1"	"1463"	"1"	"c.(1026+1_1027-1)_(1463+1_1464-1)dup"	"r.spl"	"p.(?)"	""
"0000818435"	"00001248"	"90"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660*)"	""
"0000818436"	"00001248"	"70"	"2960"	"0"	"2960"	"0"	"c.2960G>C"	"r.(?)"	"p.(Gly987Ala)"	""
"0000818437"	"00001248"	"70"	"2947"	"0"	"2947"	"0"	"c.2947C>A"	"r.(?)"	"p.(Pro983Thr)"	""
"0000818476"	"00001248"	"70"	"2984"	"0"	"2984"	"0"	"c.2984G>A"	"r.(?)"	"p.(Arg995Gln)"	""
"0000818477"	"00001248"	"70"	"3044"	"-1"	"3044"	"-1"	"c.3044-1G>C"	"r.spl"	"p.(?)"	""
"0000819500"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000819501"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000819502"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000819503"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000819504"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000819658"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000819659"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000819660"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000819824"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000820203"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	""
"0000820204"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	""
"0000820286"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000821268"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000821269"	"00001248"	"70"	"3098"	"0"	"3099"	"0"	"c.3098_3099insCGTGCTCT"	"r.(?)"	"p.(Gly1034Valfs*15)"	""
"0000822051"	"00001248"	"70"	"2660"	"0"	"2660"	"0"	"c.2660T>G"	"r.(?)"	"p.(Val887Gly)"	""
"0000822091"	"00001248"	"70"	"3283"	"0"	"3283"	"0"	"c.3283delC"	"r.(?)"	"p.?"	"19"
"0000822092"	"00001248"	"70"	"2176"	"0"	"2176"	"0"	"c.2176C>T"	"r.(?)"	"p.?"	"11"
"0000822186"	"00001248"	"70"	"129"	"0"	"134"	"0"	"c.129_134del"	"r.(?)"	"p.(Leu44_Leu45del)"	"2"
"0000822187"	"00001248"	"70"	"929"	"0"	"929"	"0"	"c.929C>A"	"r.(?)"	"p.(Thr310Asn)"	"3"
"0000822428"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000822698"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000822699"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000822700"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000822701"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000822702"	"00001248"	"70"	"2492"	"0"	"2492"	"0"	"c.2492T>C"	"r.(?)"	"p.(Leu831Pro)"	"13"
"0000822703"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000822930"	"00001248"	"70"	"3056"	"0"	"3056"	"0"	"c.3056A>C"	"r.(?)"	"p.(His1019Pro)"	""
"0000823253"	"00001248"	"50"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000823351"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000823352"	"00001248"	"90"	"1956"	"1"	"1956"	"1"	"c.1956+1G>A"	"r.spl"	"p.(?)"	""
"0000823353"	"00001248"	"90"	"1956"	"1"	"1956"	"1"	"c.1956+1G>A"	"r.spl"	"p.(?)"	""
"0000823354"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000823355"	"00001248"	"50"	"2598"	"0"	"2598"	"0"	"c.2598G>C"	"r.(?)"	"p.(Lys866Asn)"	""
"0000823356"	"00001248"	"90"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000823357"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000823358"	"00001248"	"90"	"1957"	"-2"	"1957"	"-2"	"c.1957-2A>G"	"r.(?)"	"p.(?)"	""
"0000823359"	"00001248"	"50"	"1972"	"0"	"1972"	"0"	"c.1972C>T"	"r.(?)"	"p.(His658Tyr)"	""
"0000823360"	"00001248"	"90"	"1957"	"-2"	"1957"	"-2"	"c.1957-2A>G"	"r.(?)"	"p.(?)"	""
"0000823361"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000823439"	"00001248"	"50"	"1052"	"0"	"1052"	"0"	"c.1052A>G"	"r.(?)"	"p.(Tyr351Cys)"	""
"0000823496"	"00001248"	"70"	"1245"	"0"	"1245"	"0"	"c.1245del"	"r.(?)"	"p.(Phe415Leufs*73)"	""
"0000823497"	"00001248"	"70"	"1245"	"0"	"1245"	"0"	"c.1245del"	"r.(?)"	"p.(Phe415Leufs*73)"	""
"0000823498"	"00001248"	"70"	"1245"	"0"	"1245"	"0"	"c.1245del"	"r.(?)"	"p.(Phe415Leufs*73)"	""
"0000823499"	"00001248"	"50"	"2999"	"0"	"2999"	"0"	"c.2999G>A"	"r.(?)"	"p.(Gly1000Glu)"	""
"0000823500"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000823549"	"00001248"	"50"	"1672"	"0"	"1672"	"0"	"c.1672G>A"	"r.(?)"	"p.(Asp558Asn)"	""
"0000823550"	"00001248"	"50"	"1672"	"0"	"1672"	"0"	"c.1672G>A"	"r.(?)"	"p.(Asp558Asn)"	""
"0000823552"	"00001248"	"50"	"1672"	"0"	"1672"	"0"	"c.1672G>A"	"r.(?)"	"p.(Asp558Asn)"	""
"0000824628"	"00001248"	"30"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Ser)"	""
"0000824635"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000825725"	"00001248"	"70"	"1027"	"-2"	"1027"	"-2"	"c.1027-2A>G"	"r.spl?"	"p.?"	"3i"
"0000825726"	"00001248"	"70"	"244"	"0"	"250"	"0"	"c.244_250dup"	"r.(?)"	"p.(Leu84Argfs*237)"	"2"
"0000825949"	"00001248"	"70"	"3238"	"0"	"3238"	"0"	"c.3238G>A"	"r.(?)"	"p.(Gly1080Ser)"	"19"
"0000825950"	"00001248"	"70"	"164"	"0"	"164"	"0"	"c.164C>T"	"r.(?)"	"p.(Thr55Met)"	"2"
"0000828871"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000828899"	"00001248"	"90"	"3336"	"2"	"3336"	"2"	"c.*24+2T>G"	"r.spl"	"p.(?)"	""
"0000828923"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000829446"	"00001248"	"70"	"1318"	"0"	"1319"	"0"	"c.1318_1319del"	"r.(?)"	"p.(Gly440Ilefs*6)"	"4"
"0000829449"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.spl?"	"p.(Gly982Valfs*39)"	"15"
"0000829451"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000829453"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.spl?"	"p.(Gly982Valfs*39)"	"15"
"0000829981"	"00001248"	"50"	"162"	"0"	"162"	"0"	"c.162C>G"	"r.(?)"	"p.(Phe54Leu)"	"2"
"0000843766"	"00001248"	"90"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	"8"
"0000843767"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000843768"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000843769"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000843770"	"00001248"	"90"	"2837"	"0"	"2837"	"0"	"c.2837C>T"	"r.(?)"	"p.(Ala946Val)"	"15"
"0000843771"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000843772"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	"12"
"0000843773"	"00001248"	"90"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	"8"
"0000844141"	"00001248"	"70"	"167"	"0"	"168"	"0"	"c.167_168del"	"r.(?)"	"p.(Val56Glyfs*262)"	""
"0000844142"	"00001248"	"70"	"238"	"0"	"252"	"0"	"c.238_252del"	"r.(?)"	"p.(Ala80_Leu84del)"	""
"0000844143"	"00001248"	"50"	"2281"	"0"	"2281"	"0"	"c.2281C>T"	"r.(?)"	"p.(Arg761Trp)"	""
"0000844144"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844145"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844146"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844147"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844148"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844149"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844150"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844151"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844152"	"00001248"	"90"	"2521"	"0"	"2521"	"0"	"c.2521G>A"	"r.(?)"	"p.(Glu841Lys)"	""
"0000844153"	"00001248"	"90"	"2704"	"0"	"2704"	"0"	"c.2704G>T"	"r.(?)"	"p.(Val902Leu)"	""
"0000844154"	"00001248"	"70"	"2747"	"0"	"2747"	"0"	"c.2747T>C"	"r.(?)"	"p.(Ile916Thr)"	""
"0000844155"	"00001248"	"70"	"2747"	"0"	"2747"	"0"	"c.2747T>C"	"r.(?)"	"p.(Ile916Thr)"	""
"0000844156"	"00001248"	"50"	"738"	"0"	"738"	"0"	"c.738G>C"	"r.(?)"	"p.(Met246Ile)"	""
"0000844157"	"00001248"	"50"	"2620"	"0"	"2620"	"0"	"c.2620G>A"	"r.(?)"	"p.(Glu874Lys)"	""
"0000844158"	"00001248"	"70"	"139"	"0"	"139"	"0"	"c.139delC"	"r.(?)"	"p.(Ala49Profs*36)"	""
"0000844159"	"00001248"	"70"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Gly928Glu)"	""
"0000844160"	"00001248"	"70"	"139"	"0"	"139"	"0"	"c.139delC"	"r.(?)"	"p.(Ala49Profs*36)"	""
"0000844161"	"00001248"	"70"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Gly928Glu)"	""
"0000844162"	"00001248"	"70"	"835"	"0"	"835"	"0"	"c.835G>A"	"r.(?)"	"p.(Asp279Asn)"	""
"0000844163"	"00001248"	"70"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Gly928Glu)"	""
"0000844164"	"00001248"	"50"	"2945"	"-11"	"2945"	"-1"	"c.2945-11_2945-1dup"	"r.(?)"	"p.(?)"	""
"0000844165"	"00001248"	"90"	"2957"	"0"	"2985"	"0"	"c.2957_2985del"	"r.(?)"	"p.(Ala986ValfsTer76)"	""
"0000844166"	"00001248"	"50"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844167"	"00001248"	"50"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844168"	"00001248"	"70"	"2618"	"0"	"2618"	"0"	"c.2618C>G"	"r.(?)"	"p.(Pro873Arg)"	""
"0000844169"	"00001248"	"70"	"2618"	"0"	"2618"	"0"	"c.2618C>G"	"r.(?)"	"p.(Pro873Arg)"	""
"0000844170"	"00001248"	"70"	"2618"	"0"	"2618"	"0"	"c.2618C>G"	"r.(?)"	"p.(Pro873Arg)"	""
"0000844171"	"00001248"	"70"	"2618"	"0"	"2618"	"0"	"c.2618C>G"	"r.(?)"	"p.(Pro873Arg)"	""
"0000844172"	"00001248"	"70"	"2704"	"0"	"2704"	"0"	"c.2704G>T"	"r.(?)"	"p.(Val902Leu)"	""
"0000844173"	"00001248"	"70"	"2538"	"0"	"2538"	"0"	"c.2538G>C"	"r.(?)"	"p.(Lys846Asn)"	""
"0000844174"	"00001248"	"70"	"2521"	"0"	"2521"	"0"	"c.2521G>A"	"r.(?)"	"p.(Glu841Lys)"	""
"0000844175"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	""
"0000844176"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448Ter)"	""
"0000844177"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448Ter)"	""
"0000844178"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844179"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844180"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844181"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844182"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844183"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844184"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844185"	"00001248"	"70"	"2129"	"0"	"2129"	"0"	"c.2129C>T"	"r.(?)"	"p.(Ala710Val)"	"11"
"0000844186"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844187"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844188"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844189"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844190"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844191"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844192"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844193"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844194"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844195"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844196"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844197"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844198"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844199"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844200"	"00001248"	"70"	"2545"	"0"	"2545"	"0"	"c.2545A>G"	"r.(?)"	"p.(Thr849Ala)"	""
"0000844201"	"00001248"	"70"	"2545"	"0"	"2545"	"0"	"c.2545A>G"	"r.(?)"	"p.(Thr849Ala)"	""
"0000844202"	"00001248"	"70"	"2545"	"0"	"2545"	"0"	"c.2545A>G"	"r.(?)"	"p.(Thr849Ala)"	""
"0000844203"	"00001248"	"70"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Gln525Argfs*38)"	"7"
"0000844204"	"00001248"	"70"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Gln525Argfs*38)"	"7"
"0000844205"	"00001248"	"70"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Gln525Argfs*38)"	"7"
"0000844206"	"00001248"	"70"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Gln525Argfs*38)"	"7"
"0000844212"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844213"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844214"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844215"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844216"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844217"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844218"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844219"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>G"	"r.(?)"	"p.(Arg838Gly)"	""
"0000844220"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>G"	"r.(?)"	"p.(Arg838Gly)"	""
"0000844221"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>G"	"r.(?)"	"p.(Arg838Gly)"	""
"0000844224"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844225"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844226"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844227"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844228"	"00001248"	"70"	"2939"	"0"	"2939"	"0"	"c.2939A>T"	"r.(?)"	"p.(His980Leu)"	""
"0000844229"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844230"	"00001248"	"70"	"3224"	"1"	"3224"	"1"	"c.3224+1G>C"	"r.(?)"	"p.(?)"	""
"0000844231"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844232"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844233"	"00001248"	"70"	"2595"	"0"	"2595"	"0"	"c.2595del"	"r.(?)"	"p.(Lys866Argfs*14)"	""
"0000844234"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844235"	"00001248"	"70"	"1633"	"0"	"1633"	"0"	"c.1633C>T"	"r.(?)"	"p.(Gln545*)"	""
"0000844236"	"00001248"	"70"	"2465"	"0"	"2465"	"0"	"c.2465G>C"	"r.(?)"	"p.(Arg822Pro)"	""
"0000844237"	"00001248"	"70"	"2465"	"0"	"2465"	"0"	"c.2465G>C"	"r.(?)"	"p.(Arg822Pro)"	""
"0000844238"	"00001248"	"70"	"129"	"0"	"134"	"0"	"c.129_134del"	"r.(?)"	"p.(Leu44_Leu45del)"	""
"0000844239"	"00001248"	"70"	"743"	"0"	"743"	"0"	"c.743C>G"	"r.(?)"	"p.(Ser248Trp)"	""
"0000844240"	"00001248"	"70"	"3271"	"0"	"3271"	"0"	"c.3271C>T"	"r.(?)"	"p.(Arg1091*)"	""
"0000844241"	"00001248"	"70"	"1433"	"0"	"1442"	"0"	"c.1433_1442dup"	"r.(?)"	"p.(Phe482Glyfs*78)"	""
"0000844242"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844256"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844257"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844258"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844259"	"00001248"	"70"	"2545"	"0"	"2545"	"0"	"c.2545A>G"	"r.(?)"	"p.(Thr849Ala)"	""
"0000844260"	"00001248"	"70"	"2545"	"0"	"2545"	"0"	"c.2545A>G"	"r.(?)"	"p.(Thr849Ala)"	""
"0000844261"	"00001248"	"70"	"2545"	"0"	"2545"	"0"	"c.2545A>G"	"r.(?)"	"p.(Thr849Ala)"	""
"0000844262"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844263"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844264"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844265"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844266"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844267"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844268"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844269"	"00001248"	"70"	"2798"	"0"	"2798"	"0"	"c.2798T>C"	"r.(?)"	"p.(Val933Ala)"	""
"0000844270"	"00001248"	"70"	"2798"	"0"	"2798"	"0"	"c.2798T>C"	"r.(?)"	"p.(Val933Ala)"	""
"0000844283"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844284"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844285"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844286"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844287"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844288"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844289"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844290"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844291"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>G"	"r.(?)"	"p.(Arg838Gly)"	""
"0000844292"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844293"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844294"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844296"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844297"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844298"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844299"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844300"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844301"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844302"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844303"	"00001248"	"70"	"2743"	"0"	"2743"	"0"	"c.2743A>G"	"r.(?)"	"p.(Ile915Val)"	""
"0000844305"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516del"	"r.(?)"	"p.(Thr838Argfs*27)"	""
"0000844306"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000844307"	"00001248"	"70"	"2303"	"0"	"2303"	"0"	"c.2303G>A"	"r.(?)"	"p.(Arg768Gln)"	""
"0000844308"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844309"	"00001248"	"70"	"693"	"0"	"693"	"0"	"c.693dup"	"r.(?)"	"p.(Lys232Glufs*86)"	""
"0000844310"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448*)"	""
"0000844311"	"00001248"	"50"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Pro701Ser)"	""
"0000844314"	"00001248"	"70"	"2248"	"0"	"2248"	"0"	"c.2248G>T"	"r.(?)"	"p.(Glu750*)"	""
"0000844315"	"00001248"	"70"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844372"	"00001248"	"70"	"2846"	"0"	"2846"	"0"	"c.2846T>C"	"r.(?)"	"p.(Ile949Thr)"	""
"0000844373"	"00001248"	"70"	"2846"	"0"	"2846"	"0"	"c.2846T>C"	"r.(?)"	"p.(Ile949Thr)"	""
"0000844374"	"00001248"	"70"	"2846"	"0"	"2846"	"0"	"c.2846T>C"	"r.(?)"	"p.(Ile949Thr)"	""
"0000844375"	"00001248"	"70"	"2846"	"0"	"2846"	"0"	"c.2846T>C"	"r.(?)"	"p.(Ile949Thr)"	""
"0000844376"	"00001248"	"70"	"2846"	"0"	"2846"	"0"	"c.2846T>C"	"r.(?)"	"p.(Ile949Thr)"	""
"0000844377"	"00001248"	"70"	"2846"	"0"	"2846"	"0"	"c.2846T>C"	"r.(?)"	"p.(Ile949Thr)"	""
"0000844380"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844383"	"00001248"	"50"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000844384"	"00001248"	"50"	"1915"	"0"	"1915"	"0"	"c.1915G>T"	"r.(?)"	"p.(Asp639Tyr)"	""
"0000844386"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844387"	"00001248"	"70"	"2861"	"0"	"2861"	"0"	"c.2861T>C"	"r.(?)"	"p.(Leu954Pro)"	""
"0000844388"	"00001248"	"70"	"935"	"0"	"935"	"0"	"c.935C>T"	"r.(?)"	"p.(Thr312Met)"	""
"0000844397"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000844398"	"00001248"	"70"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795Trp)"	""
"0000844420"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844421"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844422"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844423"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844424"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844425"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844426"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844427"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844428"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844429"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844430"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844431"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844432"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844433"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844434"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844435"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844436"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>G"	"r.(?)"	"p.(Arg838Gly)"	""
"0000844437"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>G"	"r.(?)"	"p.(Arg838Gly)"	""
"0000844438"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>G"	"r.(?)"	"p.(Arg838Gly)"	""
"0000844439"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	""
"0000844523"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844524"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844525"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844526"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844527"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844528"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844529"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844530"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844531"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844532"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844533"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844534"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387delC"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844535"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844536"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844537"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844538"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844539"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844540"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844541"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844542"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844543"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844544"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844545"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844546"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844547"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844548"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844549"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844550"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844551"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844552"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844553"	"00001248"	"70"	"2447"	"0"	"2447"	"0"	"c.2447T>G"	"r.(?)"	"p.(Ile816Ser)"	""
"0000844554"	"00001248"	"70"	"1760"	"0"	"1760"	"0"	"c.1760T>G"	"r.(?)"	"p.(Leu587Arg)"	""
"0000844617"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844618"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844619"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844620"	"00001248"	"70"	"3027"	"0"	"3027"	"0"	"c.3027delG"	"r.(?)"	"p.(Glu1010SerfsTer11)"	""
"0000844621"	"00001248"	"70"	"2833"	"0"	"2833"	"0"	"c.2833C>T"	"r.(?)"	"p.(His945Tyr)"	""
"0000844622"	"00001248"	"70"	"186"	"0"	"186"	"0"	"c.186G>A"	"r.(?)"	"p.(Trp62Ter)"	""
"0000844623"	"00001248"	"70"	"1052"	"0"	"1052"	"0"	"c.1052A>G"	"r.(?)"	"p.(Tyr351Cys)"	""
"0000844637"	"00001248"	"70"	"2927"	"0"	"2927"	"0"	"c.2927G>T"	"r.(?)"	"p.(Arg976Leu)"	""
"0000844638"	"00001248"	"50"	"721"	"5"	"721"	"5"	"c.721+5G>T"	"r.spl?"	"p.(?)"	""
"0000844639"	"00001248"	"70"	"2943"	"0"	"2943"	"0"	"c.2943delG"	"r.(?)"	"p.(Gly982Valfs*40)"	""
"0000844661"	"00001248"	"70"	"2540"	"0"	"2542"	"0"	"c.2540_2542delinsTCC (p.Gln847_Lys848delinsLeuGln amino acid substitutions)"	"r.(?)"	"p.(Gln847_Lys848delinsLeuGln)"	""
"0000844668"	"00001248"	"70"	"3233"	"0"	"3236"	"0"	"c.3233_3236dup"	"r.(?)"	"p.(His1079Glnfs*54)"	""
"0000844669"	"00001248"	"70"	"2943"	"0"	"2943"	"0"	"c.2943delG"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844670"	"00001248"	"70"	"3233"	"0"	"3236"	"0"	"c.3233_3236dup"	"r.(?)"	"p.(His1079Glnfs*54)"	""
"0000844671"	"00001248"	"70"	"3043"	"4"	"3043"	"4"	"c.3043+4A>T"	"r.spl?"	"p.(?)"	""
"0000844672"	"00001248"	"70"	"3043"	"4"	"3043"	"4"	"c.3043+4A>T"	"r.spl?"	"p.(?)"	""
"0000844673"	"00001248"	"70"	"2540"	"0"	"2542"	"0"	"c.2540_2542delinsTCC (p.Gln847_Lys848delinsLeuGln amino acid substitutions)"	"r.(?)"	"p.(Gln847_Lys848delinsLeuGln)"	""
"0000844674"	"00001248"	"50"	"1615"	"0"	"1615"	"0"	"c.1615A>G"	"r.(?)"	"p.(Ile539Val)"	""
"0000844675"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844676"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844677"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844678"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844693"	"00001248"	"70"	"2861"	"0"	"2861"	"0"	"c.2861T>C"	"r.(?)"	"p.(Leu954Pro)"	""
"0000844694"	"00001248"	"70"	"314"	"0"	"314"	"0"	"c.314G>A"	"r.(?)"	"p.(Cys105Tyr)"	""
"0000844695"	"00001248"	"70"	"-18"	"0"	"-18"	"0"	"c.-18del"	"r.(?)"	"p.(?)"	""
"0000844696"	"00001248"	"70"	"2572"	"0"	"2572"	"0"	"c.2572C>T"	"r.(?)"	"p.(Pro858Ser)"	""
"0000844697"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844698"	"00001248"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Leu325Pro)"	""
"0000844699"	"00001248"	"70"	"2744"	"0"	"2744"	"0"	"c.2744T>C"	"r.(?)"	"p.(Ile915Thr)"	""
"0000844700"	"00001248"	"70"	"2744"	"0"	"2744"	"0"	"c.2744T>C"	"r.(?)"	"p.(Ile915Thr)"	""
"0000844701"	"00001248"	"70"	"2744"	"0"	"2744"	"0"	"c.2744T>C"	"r.(?)"	"p.(Ile915Thr)"	""
"0000844702"	"00001248"	"70"	"2744"	"0"	"2744"	"0"	"c.2744T>C"	"r.(?)"	"p.(Ile915Thr)"	""
"0000844703"	"00001248"	"70"	"2744"	"0"	"2744"	"0"	"c.2744T>C"	"r.(?)"	"p.(Ile915Thr)"	""
"0000844704"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844705"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844706"	"00001248"	"70"	"2749"	"0"	"2749"	"0"	"c.2749G>C"	"r.(?)"	"p.(Gly917Arg)"	""
"0000844707"	"00001248"	"70"	"2749"	"0"	"2749"	"0"	"c.2749G>C"	"r.(?)"	"p.(Gly917Arg)"	""
"0000844708"	"00001248"	"70"	"2749"	"0"	"2749"	"0"	"c.2749G>C"	"r.(?)"	"p.(Gly917Arg)"	""
"0000844709"	"00001248"	"70"	"2749"	"0"	"2749"	"0"	"c.2749G>C"	"r.(?)"	"p.(Gly917Arg)"	""
"0000844710"	"00001248"	"70"	"2749"	"0"	"2749"	"0"	"c.2749G>C"	"r.(?)"	"p.(Gly917Arg)"	""
"0000844733"	"00001248"	"70"	"1979"	"0"	"1979"	"0"	"c.1979G>A"	"r.(?)"	"p.(Arg660Gln)"	""
"0000844734"	"00001248"	"70"	"1979"	"0"	"1979"	"0"	"c.1979G>A"	"r.(?)"	"p.(Arg660Gln)"	""
"0000844736"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844737"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844738"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844739"	"00001248"	"70"	"2944"	"0"	"2944"	"0"	"c.2944del"	"r.(?)"	"p.(Gly982Valfs*39)"	""
"0000844740"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844741"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844742"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844743"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844744"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844745"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844746"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844747"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	""
"0000844748"	"00001248"	"70"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844749"	"00001248"	"70"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	""
"0000844750"	"00001248"	"70"	"622"	"0"	"622"	"0"	"c.622del"	"r.(?)"	"p.(Arg208Glyfs*8)"	""
"0000844751"	"00001248"	"70"	"622"	"0"	"622"	"0"	"c.622del"	"r.(?)"	"p.(Arg208Glyfs*8)"	""
"0000844752"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844753"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844754"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844755"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844756"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844757"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844758"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844759"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844760"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844761"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844762"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844763"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844764"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Thr839Met)"	"13"
"0000844765"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Thr839Met)"	"13"
"0000844766"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Thr839Met)"	"13"
"0000844767"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Thr839Met)"	"13"
"0000844768"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Thr839Met)"	"13"
"0000844769"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Thr839Met)"	"13"
"0000844771"	"00001248"	"70"	"52"	"0"	"99"	"0"	"c.52_99dup"	"r.(?)"	"p.(Gly18_Leu33dup)"	"2"
"0000844772"	"00001248"	"70"	"226"	"0"	"239"	"0"	"c.226_239del"	"r.(?)"	"p.(Ala76Argfs*238)"	"2"
"0000844773"	"00001248"	"70"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	"2"
"0000844774"	"00001248"	"70"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	"2"
"0000844775"	"00001248"	"70"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	"2"
"0000844776"	"00001248"	"70"	"389"	"0"	"389"	"0"	"c.389del"	"r.(?)"	"p.(Pro130Leufs*36)"	"2"
"0000844777"	"00001248"	"70"	"622"	"0"	"622"	"0"	"c.622del"	"r.(?)"	"p.(Arg208Glyfs*8)"	"2"
"0000844778"	"00001248"	"70"	"622"	"0"	"622"	"0"	"c.622del"	"r.(?)"	"p.(Arg208Glyfs*8)"	"2"
"0000844779"	"00001248"	"70"	"1956"	"2"	"1956"	"2"	"c.1956+2T>A"	"r.(?)"	"p.(?)"	"9i"
"0000844780"	"00001248"	"70"	"1806"	"0"	"1830"	"0"	"c.1806_1830del"	"r.(?)"	"p.(Ala604Argfs*25)"	"9"
"0000844781"	"00001248"	"70"	"3201"	"0"	"3202"	"0"	"c.3201_3202del"	"r.(?)"	"c.3201_3202del"	"17"
"0000844782"	"00001248"	"70"	"3"	"0"	"3"	"0"	"c.3G>C"	"r.(?)"	"p.(Met1?)"	"2"
"0000844783"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	"8"
"0000844784"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	"8"
"0000844785"	"00001248"	"70"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Phe565Ser)"	"8"
"0000844786"	"00001248"	"70"	"2927"	"0"	"2927"	"0"	"c.2927G>T"	"r.(?)"	"p.(Arg976Leu)"	"15"
"0000844787"	"00001248"	"70"	"3056"	"0"	"3056"	"0"	"c.3056A>C"	"r.(?)"	"p.(His1019Pro)"	"17"
"0000844788"	"00001248"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	"2"
"0000844789"	"00001248"	"70"	"387"	"0"	"387"	"0"	"c.387C>A"	"r.(?)"	"p.(Asn129Lys)"	"2"
"0000844790"	"00001248"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313Cys)"	"3"
"0000844791"	"00001248"	"70"	"3025"	"0"	"3025"	"0"	"c.3025A>C"	"r.(?)"	"p.(Met1009Leu)"	"16"
"0000844792"	"00001248"	"70"	"121"	"0"	"121"	"0"	"c.121C>T"	"r.(?)"	"p.(Leu41Phe)"	"2"
"0000844793"	"00001248"	"70"	"1618"	"0"	"1618"	"0"	"c.1618C>T"	"r.(?)"	"p.(Arg540Cys)"	"7"
"0000844794"	"00001248"	"70"	"3106"	"0"	"3106"	"0"	"c.3106C>T"	"r.(?)"	"p.(Gln1036Ter)"	"17"
"0000844795"	"00001248"	"70"	"1957"	"-1"	"1957"	"-1"	"c.1957-1G>T"	"r.(?)"	"p.(?)"	"9i"
"0000844796"	"00001248"	"70"	"2983"	"0"	"2983"	"0"	"c.2983C>T"	"r.(?)"	"p.(Arg995Trp)"	"16"
"0000844797"	"00001248"	"70"	"1343"	"0"	"1343"	"0"	"c.1343C>A"	"r.(?)"	"p.(Ser448Ter)"	"4"
"0000844798"	"00001248"	"70"	"1957"	"-1"	"1957"	"-1"	"c.1957-1G>A"	"r.(?)"	"p.(?)"	"9i"
"0000844799"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844800"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844801"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844802"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844803"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844804"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844805"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844806"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844807"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844808"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844809"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844810"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844811"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>A"	"r.(?)"	"p.(Arg838Ser)"	"13"
"0000844812"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844813"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844814"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844815"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844816"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844817"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844818"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844819"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844820"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844821"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844822"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844823"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844824"	"00001248"	"70"	"2509"	"0"	"2509"	"0"	"c.2509G>C"	"r.(?)"	"p.(Glu837Gln)"	"13"
"0000844825"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844826"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844827"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844828"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844829"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844830"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844831"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844832"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844833"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844834"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844835"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000844836"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000844862"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844863"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844864"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844865"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844866"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844867"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844868"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844869"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844870"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844871"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844872"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844873"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844874"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844875"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844876"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844877"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844878"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844879"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844880"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844881"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844882"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844883"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844884"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844885"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844886"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844887"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844888"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844889"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844890"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844891"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844892"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844893"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844894"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844895"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844896"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844897"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844898"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844899"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844900"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844901"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844902"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844903"	"00001248"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000844904"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844905"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844906"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844907"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844908"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844909"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844910"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844911"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844912"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844913"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844914"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844915"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844916"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844917"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844918"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844919"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844920"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844921"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000844946"	"00001248"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000844947"	"00001248"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000844948"	"00001248"	"70"	"314"	"0"	"314"	"0"	"c.314G>A"	"r.(?)"	"p.(Cys105Tyr)"	""
"0000844949"	"00001248"	"70"	"2572"	"0"	"2572"	"0"	"c.2572C>T"	"r.(?)"	"p.(Pro858Ser)"	""
"0000844950"	"00001248"	"70"	"2861"	"0"	"2861"	"0"	"c.2861T>C"	"r.(?)"	"p.(Leu954Pro)"	""
"0000844951"	"00001248"	"70"	"3055"	"0"	"3064"	"0"	"c.3055_3064delinsACAG"	"r.(?)"	"p.(His1019_Leu1022delinsThrVal)"	""
"0000844954"	"00001248"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Leu325Pro)"	""
"0000846866"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000846867"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000846868"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000846869"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000846870"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000846871"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000846872"	"00001248"	"70"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.(Gly982Valfs*39)"	""
"0000855157"	"00001248"	"50"	"799"	"0"	"799"	"0"	"c.799G>C"	"r.(?)"	"p.(Gly267Arg)"	""
"0000855158"	"00001248"	"50"	"2188"	"0"	"2188"	"0"	"c.2188T>G"	"r.(?)"	"p.(Phe730Val)"	""
"0000855159"	"00001248"	"30"	"3133"	"0"	"3133"	"0"	"c.3133C>T"	"r.(?)"	"p.(Leu1045=)"	""
"0000865555"	"00001248"	"50"	"799"	"0"	"799"	"0"	"c.799G>C"	"r.(?)"	"p.(Gly267Arg)"	""
"0000865556"	"00001248"	"50"	"1339"	"0"	"1339"	"0"	"c.1339C>T"	"r.(?)"	"p.(Pro447Ser)"	""
"0000865557"	"00001248"	"30"	"1378"	"16"	"1378"	"16"	"c.1378+16C>T"	"r.(=)"	"p.(=)"	""
"0000865558"	"00001248"	"30"	"1518"	"0"	"1518"	"0"	"c.1518C>T"	"r.(?)"	"p.(Thr506=)"	""
"0000873645"	"00001248"	"70"	"2375"	"0"	"2375"	"0"	"c.2375C>T"	"r.(?)"	"p.(Pro792Leu)"	""
"0000880138"	"00001248"	"50"	"2769"	"9"	"2769"	"9"	"c.2769+9T>G"	"r.(=)"	"p.(=)"	""
"0000881228"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000894347"	"00001248"	"90"	"676"	"0"	"676"	"0"	"c.676del"	"r.(?)"	"p.(Ala226Profs*5)"	""
"0000894348"	"00001248"	"50"	"1093"	"0"	"1093"	"0"	"c.1093C>T"	"r.(?)"	"p.(Arg365Trp)"	""
"0000894349"	"00001248"	"90"	"1433"	"0"	"1442"	"0"	"c.1433_1442dup"	"r.(?)"	"p.(Phe482Glyfs*78)"	""
"0000894350"	"00001248"	"30"	"2263"	"18"	"2263"	"18"	"c.2263+18G>A"	"r.(=)"	"p.(=)"	""
"0000896624"	"00001248"	"70"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000896681"	"00001248"	"90"	"3336"	"2"	"3336"	"2"	"c.*24+2T>G"	"r.spl"	"p.?"	""
"0000896720"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	""
"0000916075"	"00001248"	"90"	"1561"	"0"	"1561"	"0"	"c.1561C>T"	"r.(?)"	"p.(Arg521*)"	"6"
"0000916276"	"00001248"	"50"	"992"	"0"	"992"	"0"	"c.992G>C"	"r.(?)"	"p.(Arg331Pro)"	"3"
"0000916277"	"00001248"	"70"	"3206"	"0"	"3206"	"0"	"c.3206del"	"r.(?)"	"p.(Pro1069Argfs*38)"	"18"
"0000916345"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Arg838Pro)"	"13"
"0000916359"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000916486"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000916693"	"00001248"	"70"	"1753"	"0"	"1753"	"0"	"c.1753C>T"	"r.(?)"	"p.(Gln585*)"	"9"
"0000926675"	"00001248"	"50"	"1201"	"0"	"1201"	"0"	"c.1201C>G"	"r.(?)"	"p.(Pro401Ala)"	""
"0000926676"	"00001248"	"50"	"2953"	"0"	"2953"	"0"	"c.2953G>A"	"r.(?)"	"p.(Val985Met)"	""
"0000930906"	"00001248"	"70"	"3025"	"0"	"3025"	"0"	"c.3025A>C"	"r.(?)"	"p.(Met1009Leu)"	""
"0000951066"	"00001248"	"50"	"1979"	"0"	"1979"	"0"	"c.1979G>A"	"r.(?)"	"p.(Arg660Gln)"	""
"0000951067"	"00001248"	"90"	"2861"	"0"	"2862"	"0"	"c.2861_2862del"	"r.(?)"	"p.(Leu954Argfs*16)"	""
"0000954049"	"00001248"	"90"	"1991"	"0"	"1991"	"0"	"c.1991A>C"	"r.(?)"	"p.(His664Pro)"	""
"0000954084"	"00001248"	"70"	"2984"	"0"	"2984"	"0"	"c.2984G>A"	"r.(?)"	"p.(Arg995Gln)"	""
"0000958118"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000958149"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000958151"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	""
"0000958490"	"00001248"	"70"	"3219"	"0"	"3219"	"0"	"c.3219dup"	"r.(?)"	"p.(Pro1074ThrfsTer58)"	""
"0000958610"	"00001248"	"50"	"997"	"0"	"997"	"0"	"c.997G>A"	"r.(?)"	"p.(Glu333Lys)"	""
"0000958663"	"00001248"	"90"	"826"	"0"	"826"	"0"	"c.826del"	"r.(?)"	"p.(Leu276CysfsTer119)"	""
"0000958862"	"00001248"	"50"	"755"	"0"	"755"	"0"	"c.755G>C"	"r.(?)"	"p.(Gly252Ala)"	""
"0000958898"	"00001248"	"50"	"2642"	"0"	"2642"	"0"	"c.2642T>C"	"r.(?)"	"p.(Leu881Pro)"	""
"0000958921"	"00001248"	"50"	"2264"	"-65"	"2264"	"-65"	"c.2264-65C>T"	"r.spl?"	"p.?"	""
"0000959023"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>G"	"r.(?)"	"p.(Thr839Arg)"	""
"0000959102"	"00001248"	"50"	"734"	"0"	"734"	"0"	"c.734T>G"	"r.(?)"	"p.(Val245Gly)"	""
"0000959168"	"00001248"	"50"	"380"	"0"	"380"	"0"	"c.380C>G"	"r.(?)"	"p.(Pro127Arg)"	""
"0000959184"	"00001248"	"50"	"2048"	"0"	"2048"	"0"	"c.2048C>G"	"r.(?)"	"p.(Thr683Ser)"	""
"0000959259"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000959995"	"00001248"	"30"	"1984"	"0"	"1984"	"0"	"c.1984G>A"	"r.(?)"	"p.(Val662Met)"	""
"0000982890"	"00001248"	"30"	"1984"	"0"	"1984"	"0"	"c.1984G>A"	"r.(?)"	"p.(Val662Met)"	""
"0000982892"	"00001248"	"50"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Ser)"	""
"0000982893"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""
"0000986432"	"00001248"	"70"	"2516"	"0"	"2516"	"0"	"c.2516C>G"	"r.(?)"	"p.(Thr839Arg)"	"13"
"0000986433"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000986434"	"00001248"	"70"	"2747"	"0"	"2747"	"0"	"c.2747T>C"	"r.(?)"	"p.(Ile916Thr)"	"14"
"0000986435"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000986436"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000986437"	"00001248"	"70"	"2569"	"0"	"2569"	"0"	"c.2569C>A"	"r.(?)"	"p.(Leu857Met)"	"13"
"0000986438"	"00001248"	"90"	"2516"	"0"	"2516"	"0"	"c.2516del"	"r.(?)"	"p.(Thr839ArgfsTer27)"	"13"
"0000986439"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000986440"	"00001248"	"70"	"3244"	"0"	"3244"	"0"	"c.3244del"	"r.(?)"	"p.(Ser1082AlafsTer25)"	"19"
"0000986441"	"00001248"	"90"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Arg838His)"	"13"
"0000986442"	"00001248"	"90"	"2521"	"0"	"2521"	"0"	"c.2521G>T"	"r.(?)"	"p.(Glu841Ter)"	"13"
"0000986443"	"00001248"	"90"	"2512"	"0"	"2512"	"0"	"c.2512C>T"	"r.(?)"	"p.(Arg838Cys)"	"13"
"0000986928"	"00001248"	"50"	"2818"	"0"	"2818"	"0"	"c.2818C>T"	"r.(?)"	"p.(Arg940Trp)"	"15"
"0000986946"	"00001248"	"90"	"2944"	"1"	"2944"	"1"	"c.2944+1del"	"r.spl"	"p.?"	"15i"
"0001003819"	"00001248"	"50"	"129"	"0"	"134"	"0"	"c.129_134del"	"r.(?)"	"p.(Leu44_Leu45del)"	""
"0001003823"	"00001248"	"50"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Gly425Ala)"	""
"0001003826"	"00001248"	"90"	"1979"	"0"	"1979"	"0"	"c.1979G>A"	"r.(?)"	"p.(Arg660Gln)"	""
"0001010908"	"00001248"	"50"	"1312"	"0"	"1312"	"0"	"c.1312C>T"	"r.(?)"	"p.(Arg438Cys)"	""
"0001022250"	"00001248"	"90"	"3025"	"0"	"3025"	"0"	"c.3025A>C"	"r.(?)"	"p.(Met1009Leu)"	""
"0001022269"	"00001248"	"70"	"725"	"0"	"725"	"0"	"c.725T>A"	"r.(?)"	"p.(Val242Glu)"	""
"0001022325"	"00001248"	"70"	"2312"	"0"	"2312"	"0"	"c.2312T>A"	"r.(?)"	"p.(Val771Glu)"	""
"0001022332"	"00001248"	"70"	"3071"	"0"	"3071"	"0"	"c.3071C>T"	"r.(?)"	"p.(Thr1024Ile)"	""
"0001027076"	"00001248"	"10"	"2413"	"-14"	"2413"	"-14"	"c.2413-14C>T"	"r.(=)"	"p.(=)"	""
"0001055824"	"00001248"	"10"	"74"	"0"	"74"	"0"	"c.74C>T"	"r.(?)"	"p.(Ser25Phe)"	""
"0001055825"	"00001248"	"10"	"369"	"0"	"369"	"0"	"c.369C>T"	"r.(?)"	"p.(Gly123=)"	""
"0001055826"	"00001248"	"50"	"1619"	"0"	"1619"	"0"	"c.1619G>T"	"r.(?)"	"p.(Arg540Leu)"	""
"0001059868"	"00001248"	"70"	"139"	"0"	"140"	"0"	"c.139_140delinsA"	"r.(?)"	"p.(Pro47Thrfs*38)"	""
"0001066632"	"00001248"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Trp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 992
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000005665"
"0000016562"	"0000036430"
"0000033166"	"0000059913"
"0000033172"	"0000059901"
"0000033172"	"0000059902"
"0000033191"	"0000059903"
"0000033191"	"0000059904"
"0000033198"	"0000059914"
"0000033200"	"0000059915"
"0000033206"	"0000059905"
"0000033207"	"0000059910"
"0000033209"	"0000059916"
"0000033218"	"0000059917"
"0000033219"	"0000059912"
"0000033220"	"0000059918"
"0000033222"	"0000059906"
"0000033228"	"0000059907"
"0000033231"	"0000059911"
"0000033235"	"0000059908"
"0000033237"	"0000059909"
"0000033684"	"0000059919"
"0000033684"	"0000059920"
"0000033705"	"0000059921"
"0000033762"	"0000059922"
"0000033763"	"0000059924"
"0000033764"	"0000059926"
"0000033765"	"0000059928"
"0000033766"	"0000059930"
"0000033767"	"0000059933"
"0000033768"	"0000059935"
"0000033769"	"0000059937"
"0000033770"	"0000059938"
"0000038283"	"0000790310"
"0000038284"	"0000790311"
"0000038285"	"0000790312"
"0000038300"	"0000790317"
"0000038536"	"0000685831"
"0000052461"	"0000844674"
"0000052894"	"0000790398"
"0000078699"	"0000119968"
"0000100472"	"0000162771"
"0000100476"	"0000162775"
"0000105462"	"0000170876"
"0000156340"	"0000358262"
"0000156341"	"0000358263"
"0000156342"	"0000358264"
"0000156343"	"0000358265"
"0000156344"	"0000358266"
"0000156344"	"0000358442"
"0000208627"	"0000438637"
"0000208703"	"0000438642"
"0000208721"	"0000438663"
"0000208726"	"0000438670"
"0000241548"	"0000487558"
"0000241549"	"0000487559"
"0000241550"	"0000487560"
"0000241551"	"0000487561"
"0000270620"	"0000604400"
"0000270620"	"0000604401"
"0000270695"	"0000604483"
"0000270696"	"0000604484"
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