### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CRX)
# 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}}"
"CRX" "cone-rod homeobox" "19" "q13.3" "unknown" "NG_008605.1" "UD_132084555936" "" "http://www.LOVD.nl/CRX" "" "1" "2383" "1406" "602225" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/CRX_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-02-13 00:00:00" "00006" "2017-06-16 14:52:21" "00000" "2025-07-08 13:22:38"
## 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}}"
"00005705" "CRX" "cone-rod homeobox" "001" "NM_000554.4" "" "NP_000545.1" "" "" "" "-204" "4263" "900" "48325099" "48346587" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01261" "CORD2" "dystrophy, cone-rod, type 2 (CORD-2)" "AD" "120970" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03367" "OCMD" "dystrophy, macular, occult (OCMD)" "AD" "613587" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-11 14:43:46"
"03452" "LCA7" "Leber congenital amaurosis, type 7 (LCA-7)" "" "613829" "" "" "" "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" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CRX" "01261"
"CRX" "03452"
## Individuals ## Do not remove or alter this header ##
## Count = 265
"{{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}}"
"00001801" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00033134" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033155" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00105015" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "M" "no" "Spain" "" "0" "" "" "" "10NCE1"
"00173866" "" "" "" "2" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP207"
"00233500" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233501" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233502" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233503" "" "" "" "8" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233504" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233505" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233506" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233507" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233508" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00269472" "" "" "" "1" "" "03508" "" "" "M" "" "" "31y" "0" "" "" "" ""
"00269473" "" "" "" "1" "" "03508" "" "" "" "" "" "" "0" "" "" "" ""
"00292162" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292163" "" "" "" "74" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308394" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC04965"
"00308395" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC03241"
"00308396" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC3750"
"00308402" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC07569"
"00308506" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00309128" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00326683" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" ""
"00326788" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" ""
"00326789" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" ""
"00326790" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" ""
"00326796" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" ""
"00328139" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G005521"
"00328168" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006303"
"00328280" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000147"
"00328405" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690923"
"00331278" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "family" "M" "" "Japan" "" "0" "" "" "" "Pat32"
"00332034" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat172"
"00332035" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat173"
"00332036" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat174"
"00332037" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat175"
"00332224" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB195"
"00332393" "" "" "" "1" "" "00000" "{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}" "" "F" "" "Korea" "" "0" "" "" "" "Pat1;Pat14;Pat14"
"00333440" "" "" "" "11" "" "00000" "{PMID:Jones 2017:28761320}" "5-generation family, 11 affected (5F, 6M)" "F" "" "United States" "" "0" "" "" "" "FAM3-5250"
"00333442" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "M" "" "United States" "" "0" "" "" "" "FAM3-10396"
"00333443" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM3-10397"
"00333444" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM3-10398"
"00333583" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "292"
"00333625" "" "" "" "7" "" "00000" "{PMID:Stone 2017:28559085}" "family, 7 affected" "F" "" "(United States)" "" "0" "" "" "" "380"
"00333633" "" "" "" "4" "" "00000" "{PMID:Stone 2017:28559085}" "family, 4 affected" "F" "" "(United States)" "" "0" "" "" "" "397"
"00334415" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-046"
"00335110" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "5462"
"00335111" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "165"
"00335217" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/04"
"00335302" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat33"
"00335401" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP041"
"00335407" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP087"
"00335489" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD035"
"00335636" "" "" "" "5" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" ""
"00335637" "" "" "" "15" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" ""
"00358918" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "" "" "" "China" "" "0" "" "" "Han" "Fam30"
"00359035" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13010981"
"00359077" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12013231"
"00359230" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13012308"
"00359236" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13009064"
"00359385" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "522"
"00362063" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT139"
"00362064" "" "" "" "10" "" "00006" "{PMID:Huang 2012:22960069}, {PMID:Huang 2016:26992781}" "4-generation family, 10 affected (7F, 3M)" "F;M" "" "China" "" "0" "" "" "" "QT470"
"00362065" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1272"
"00362155" "" "" "" "1" "" "00006" "{PMID:Huang 2012:22960069}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "QT70"
"00362156" "" "" "" "1" "" "00006" "{PMID:Huang 2012:22960069}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "QT22"
"00362163" "" "" "" "1" "" "00000" "{PMID:Oishi 2016:26957898}" "3-generation family, 1 affected" "M" "" "Japan" "" "0" "" "" "" "K6343"
"00362168" "" "" "" "1" "" "00000" "{PMID:Oishi 2016:26957898}" "" "" "" "Japan" "" "0" "" "" "" "K6345"
"00362897" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD 70"
"00362903" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ZD367"
"00363382" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM691"
"00363456" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "3XM+J.87"
"00363581" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00180"
"00363594" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00976"
"00363674" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2472"
"00363690" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0648"
"00372406" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "148"
"00372444" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "1679336"
"00372637" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP353"
"00372644" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP327"
"00373356" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00373465" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP1688"
"00373866" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp97"
"00374960" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "F14-1"
"00374984" "" "" "" "1" "" "00006" "{PMID:Duncker 2015:25283059}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "Pat25"
"00374985" "" "" "" "1" "" "00006" "{PMID:Duncker 2015:25283059}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "Pat26"
"00375273" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6116"
"00375274" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6419"
"00375331" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6218"
"00375510" "" "" "" "1" "" "00000" "{PMID:Alapati 2014:25082885}" "" "" "" "United States" "" "0" "" "" "" "CRDPat5, dominant"
"00376180" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" ""
"00376182" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" ""
"00376188" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00376190" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" ""
"00376299" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" ""
"00376300" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" ""
"00376301" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" ""
"00376302" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" ""
"00376480" "" "" "" "1" "" "00000" "{PMID:Seong-2008:18682808}" "" "" "" "Korea" "" "0" "" "" "Koreans" ""
"00376715" "" "" "" "1" "" "00000" "{PMID:Vallespin 2007:18055816}" "" "" "" "Spain" "" "0" "" "" "Spanish" ""
"00376716" "" "" "" "1" "" "00000" "{PMID:Vallespin 2007:18055816}" "" "" "" "Spain" "" "0" "" "" "Spanish" ""
"00376769" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "33"
"00376782" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "48"
"00377371" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?"
"00377372" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?"
"00377373" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?"
"00377510" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-1092"
"00377511" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-1192"
"00377525" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE70" "F" "no" "Japan" "" "0" "" "" "Asian" "EYE70"
"00377536" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE178" "M" "no" "Japan" "" "0" "" "" "Asian" "EYE178"
"00377899" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "" "M" "no" "China" "" "0" "" "" "Chinese" ""
"00377900" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "Zhang et al., 2001" "M" "no" "China" "" "0" "" "" "Chinese" ""
"00377901" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "Wang et al., 2007" "M" "no" "China" "" "0" "" "" "Chinese" ""
"00379449" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" ""
"00379610" "" "" "" "1" "" "00000" "{PMID:Blanco-Kelly-2012:22736939}" "" "" "" "Spain" "" "0" "" "" "spanish" ""
"00379794" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0153"
"00379827" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016120510"
"00380257" "" "" "" "1" "" "00000" "{PMID:Kim-2012:23049240}" "" "" "" "China" "" "0" "" "" "" ""
"00381007" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" ""
"00381030" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "M" "" "China" "" "0" "" "" "Chinese" ""
"00381145" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "M" "yes" "India" "" "0" "" "" "South Indian" ""
"00381614" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00381657" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Turkey" "" "0" "" "" "" ""
"00381680" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00381710" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" ""
"00381913" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "63"
"00382273" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "102"
"00382274" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "103"
"00382276" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "105"
"00382277" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "106"
"00382537" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "399"
"00382538" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "400"
"00382539" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "401"
"00383778" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18081320_A"
"00383779" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18081321_A"
"00383843" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" ""
"00383850" "" "" "" "1" "" "00000" "{PMID:Nasser 2019:30945053}" "" "M" "" "Germany" "" "0" "" "" "" "1"
"00383851" "" "" "" "1" "" "00000" "{PMID:Nasser 2019:30945053}" "" "F" "" "Germany" "" "0" "" "" "" "2"
"00383852" "" "" "" "1" "" "00000" "{PMID:Nasser 2019:30945053}" "" "M" "" "Germany" "" "0" "" "" "" "3"
"00383858" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "3672"
"00383860" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "3830"
"00383865" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "4416"
"00383867" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "4548"
"00384361" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13958"
"00384449" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14614"
"00385001" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19160"
"00385011" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19262"
"00385053" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19890"
"00385067" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "67070"
"00385076" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "67230"
"00385088" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "191021"
"00385963" "" "" "" "1" "" "00000" "{PMID:Shanks-2013:22968130}" "novel. 3 affected siblings for mutation." "" "" "" "" "0" "" "" "" ""
"00386203" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-158, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-323"
"00386248" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Venezuela" "" "0" "" "" "" "RPN-493"
"00386903" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI656_001332"
"00387510" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "" "M" "" "United States" "" "0" "" "" "" ""
"00388154" "" "" "" "1" "" "00000" "{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}" "" "M" "" "Korea" "" "0" "" "" "" "11;Pat13"
"00388155" "" "" "" "1" "" "00000" "{PMID:Surl 2020:32165824}" "" "F" "" "Korea" "" "0" "" "" "" "12"
"00389123" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 132, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "407"
"00389124" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 132, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "408"
"00389169" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 147, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "453"
"00389495" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 302, Stargardt Disease, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "779"
"00389612" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 376, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "896"
"00389659" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 416, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "943"
"00389737" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 534, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1021"
"00390246" "" "" "" "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" "" "" "" "G005521"
"00390247" "" "" "" "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" "" "" "" "G006303"
"00390248" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000147"
"00390945" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391156" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "118"
"00391157" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "119"
"00391158" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "120"
"00391575" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "72"
"00391640" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "38"
"00392374" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "19652"
"00392637" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "118"
"00392642" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "123"
"00393521" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393603" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00396227" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "M" "" "" "" "0" "" "" "Polish" ""
"00396408" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "12003183"
"00404109" "" "" "" "1" "" "00006" "{PMID:Aldahmesh 2009:19956407}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "DGU-F13"
"00406071" "" "" "" "1" "" "00000" "{PMID:Griffith 2017:28945142}" "proband" "M" "" "United States" "" "0" "" "" "" "Case I"
"00406072" "" "" "" "1" "" "00000" "{PMID:Griffith 2017:28945142}" "proband\'s mother" "F" "" "United States" "" "0" "" "" "" "Case II"
"00406073" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30095615}" "family 1, proband" "M" "" "China" "" "0" "" "" "" "IV:5"
"00406074" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30095615}" "family 1, proband\'s sister 2" "F" "" "China" "" "0" "" "" "" "IV:3"
"00406075" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30095615}" "family 1, proband\'s sister 2" "F" "" "China" "" "0" "" "" "" "IV:4"
"00406076" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30095615}" "family 1, proband\'s mother" "F" "" "China" "" "0" "" "" "" "III:5"
"00406077" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30095615}" "family 1, proband\'s maternal aunt" "F" "" "China" "" "0" "" "" "" "III:6"
"00406078" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30095615}" "family 1, proband\'s maternal uncle" "M" "" "China" "" "0" "" "" "" "III:1"
"00406079" "" "" "" "1" "" "00000" "{PMID:Chapi 2019:31215831}" "family A, proband" "M" "" "Iran" "" "0" "" "" "" "III:1"
"00406080" "" "" "" "1" "" "00000" "{PMID:Chapi 2019:31215831}" "family A, proband\'s maternal uncle" "M" "" "Iran" "" "0" "" "" "" "II:3"
"00406081" "" "" "" "1" "" "00000" "{PMID:Chapi 2019:31215831}" "family A, proband\'s mother" "F" "" "Iran" "" "0" "" "" "" "II:2"
"00406082" "" "" "" "1" "" "00000" "{PMID:Chapi 2019:31215831}" "family A, proband\'s brother" "M" "" "Iran" "" "0" "" "" "" "III:2"
"00406083" "" "" "" "1" "" "00000" "{PMID:Chapi 2019:31215831}" "family A, proband\'s brother" "M" "yes" "Iran" "" "0" "" "" "" "IV:4"
"00406205" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 1, Patient 1 (1-III:1), TMC-001- 001, NISO-NTMC072-KA072" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 1 (1-III:1)"
"00406206" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 1, Patient 2 (1-II:3), TMC-001- 002, NISO-NTMC072-KA205" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 2 (1-II:3)"
"00406207" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 2, Patient 3 (2-II:1), JU-001-001, JIKEI-079JIKEI-JU0743" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 3 (2-II:1)"
"00406208" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 2, Patient 4 (2-I:2), JU-001-002, JIKEI-079JIKEI-JU1738" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 4 (2-I:2)"
"00406209" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 3, Patient 5 (3-II:2), KDU-001- 001, KINKI-034-1104" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 5 (3-II:2)"
"00406210" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 4, Patient 6 (4-III:2), NU-001-001, NAGOYA-Nagoya085-Nagoya0085" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 6 (4-III:2)"
"00406211" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 5, Patient 7 (5-II:1), JU-002-001, JIKEI-237JIKEI-JU1557" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 7 (5-II:1)"
"00406212" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 5, Patient 8 (5-I:1), JU-002-002, JIKEI-237JIKEI-JU1558" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 8 (5-I:1)"
"00406213" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 6, Patient 9 (6-III:1), KDU-002- 001, KINKI-003-4" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 9 (6-III:1)"
"00406214" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 6, Patient 10 (6-III:2), KDU-002- 002, KINKI-003-3" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 10 (6-III:2)"
"00406215" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 7, Patient 11 (7-III:3), TMC-002- 001, NISO-NTMC233-KA233" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 11 (7-III:3)"
"00406216" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 7, Patient 12 (7-II:2), TMC-002- 002, NISO-NTMC233-KA259" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 12 (7-II:2)"
"00406217" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 8, Patient 13 (8-II:2), TMC-003- 001, NISO-NTMC049-KA049" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 13 (8-II:2)"
"00406218" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 9, Patient 14 (9-II:4), KDU-003- 001, KINKI-020-1058" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 14 (9-II:4)"
"00406219" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 10, Patient 15 (10-II:3), JU-003-001, JIKEI-034JIKEI-JU0565" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 15 (10-II:3)"
"00406220" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 11, Patient 16 (11-III:3), KDU-004- 001, KINKI-102-1252" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 16 (11-III:3)"
"00406221" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 12, Patient 17 (12-IV:1), TU-001-001, TEIKYO-Teikyo1090" "M" "" "Japan" "" "0" "" "" "Asian" "Patient 17 (12-IV:1)"
"00406222" "" "" "" "1" "" "00000" "{PMID:Fujinami-Yokokawa 2020:32533067}" "Family 13, Patient 18 (13-III:1), TMC-004- 001, NISO-NHO1002-001" "F" "" "Japan" "" "0" "" "" "Asian" "Patient 18 (13-III:1)"
"00406236" "" "" "" "1" "" "00000" "{PMID:Ng 2020:32689858}" "" "M" "" "United States" "" "0" "" "" "white" "Patient 1"
"00406324" "" "" "" "1" "" "00000" "{PMID:Arcot Sadagopan 2013:24093488}" "family 1, proband" "M" "" "United States" "" "0" "" "" "" "Case 1"
"00406325" "" "" "" "1" "" "00000" "{PMID:Arcot Sadagopan 2013:24093488}" "family 1, proband\'s father" "M" "" "United States" "" "0" "" "" "" "Case 2"
"00406358" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?"
"00406359" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?"
"00406394" "" "" "" "1" "" "00000" "{PMID:Wiszniewski 2011:21153841}" "family Ar-589" "?" "" "United States" "" "0" "" "" "" "?"
"00406572" "" "" "" "1" "" "00000" "{PMID:Preising 2007:17525851}" "family 560, individual 1" "?" "" "" "" "0" "" "" "" "560_1"
"00406573" "" "" "" "1" "" "00000" "{PMID:Preising 2007:17525851}" "family 560, individual 2" "?" "" "" "" "0" "" "" "" "560_2"
"00406574" "" "" "" "1" "" "00000" "{PMID:Preising 2007:17525851}" "family 836, individual 1" "?" "" "" "" "0" "" "" "" "836_1"
"00406575" "" "" "" "1" "" "00000" "{PMID:Preising 2007:17525851}" "family 836, individual 2" "?" "" "" "" "0" "" "" "" "836_2"
"00406576" "" "" "" "1" "" "00000" "{PMID:Preising 2007:17525851}" "family 836, individual 3" "?" "" "" "" "0" "" "" "" "836_3"
"00406577" "" "" "" "1" "" "00000" "{PMID:Preising 2007:17525851}" "family 836, individual 4" "?" "" "" "" "0" "" "" "" "836_4"
"00406829" "" "" "" "1" "" "00000" "{PMID:Dharmaraj 2000:11035546}" "" "?" "no" "Canada" "" "0" "" "" "American" "10"
"00406830" "" "" "" "1" "" "00000" "{PMID:Dharmaraj 2000:11035546}" "" "?" "no" "Canada" "" "0" "" "" "American" "11"
"00408426" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "Family 17, invidivual a" "?" "" "Finland" "" "0" "" "" "" "17a"
"00408427" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "Family 17, invidivual b" "?" "" "Finland" "" "0" "" "" "" "17b"
"00408428" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "Family 17, invidivual c" "?" "" "Finland" "" "0" "" "" "" "17c"
"00408429" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "Family 17, invidivual d" "?" "" "Finland" "" "0" "" "" "" "17d"
"00419701" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070583"
"00419704" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070567"
"00419705" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070657"
"00426925" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 29, individual 34" "M" "" "" "" "0" "" "" "" "29_34"
"00429559" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429573" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429591" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429750" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00430034" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00446930" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-287"
"00447052" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CD-419"
"00447057" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CD-621"
"00447062" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "CD-633"
"00447101" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-801"
"00447102" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-802"
"00447169" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "MDS-427"
"00447186" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-466"
"00450821" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "067176"
"00450822" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "067215"
"00450823" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "067284"
"00450824" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "070839"
"00450825" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "070847"
"00450826" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "070977"
"00450827" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071795"
"00450828" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071835"
"00450829" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072278"
"00450830" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "074711"
"00450831" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "079827"
"00450832" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "079858"
"00450833" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "079861"
"00450834" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "080606"
"00461074" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "white" "Pat9"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 265
"{{individualid}}" "{{diseaseid}}"
"00001801" "00112"
"00033134" "04214"
"00033155" "04214"
"00105015" "04214"
"00173866" "04214"
"00233500" "04214"
"00233501" "04214"
"00233502" "04214"
"00233503" "04214"
"00233504" "04214"
"00233505" "04214"
"00233506" "04214"
"00233507" "04214"
"00233508" "04214"
"00269472" "04210"
"00269473" "04210"
"00292162" "00198"
"00292163" "00198"
"00308394" "04214"
"00308395" "04214"
"00308396" "04214"
"00308402" "04214"
"00308506" "04214"
"00309128" "04214"
"00326683" "04214"
"00326788" "04214"
"00326789" "04214"
"00326790" "04214"
"00326796" "04214"
"00328139" "04214"
"00328168" "04214"
"00328280" "04214"
"00328405" "04214"
"00331278" "04214"
"00332034" "04214"
"00332035" "04214"
"00332036" "04214"
"00332037" "04214"
"00332224" "04214"
"00332393" "04214"
"00333440" "04214"
"00333442" "04214"
"00333443" "04214"
"00333444" "04214"
"00333583" "04214"
"00333625" "04214"
"00333633" "04214"
"00334415" "04214"
"00335110" "00198"
"00335111" "00198"
"00335217" "04214"
"00335302" "04214"
"00335401" "04214"
"00335407" "04214"
"00335489" "04214"
"00335636" "04214"
"00335637" "04214"
"00358918" "04214"
"00359035" "04214"
"00359077" "04214"
"00359230" "04214"
"00359236" "04214"
"00359385" "04214"
"00362063" "04214"
"00362064" "04214"
"00362065" "04214"
"00362155" "04214"
"00362156" "04214"
"00362163" "04214"
"00362168" "04214"
"00362897" "04214"
"00362903" "04214"
"00363382" "04214"
"00363456" "04214"
"00363581" "04214"
"00363594" "04214"
"00363674" "04214"
"00363690" "04214"
"00372406" "04214"
"00372444" "04214"
"00372637" "04214"
"00372644" "04214"
"00373356" "04214"
"00373465" "04214"
"00373866" "04214"
"00374960" "04214"
"00374984" "04214"
"00374985" "04214"
"00375273" "04214"
"00375274" "04214"
"00375331" "04214"
"00375510" "04214"
"00376180" "04214"
"00376182" "04214"
"00376188" "04214"
"00376190" "04214"
"00376299" "04214"
"00376300" "04214"
"00376301" "04214"
"00376302" "04214"
"00376480" "04214"
"00376715" "04214"
"00376716" "04214"
"00376769" "04214"
"00376782" "04214"
"00377371" "04214"
"00377372" "04214"
"00377373" "04214"
"00377510" "04214"
"00377511" "04214"
"00377525" "04214"
"00377536" "04214"
"00377899" "04214"
"00377900" "04214"
"00377901" "04214"
"00379449" "04214"
"00379610" "04214"
"00379794" "03367"
"00379827" "04214"
"00380257" "04214"
"00381007" "04214"
"00381030" "04214"
"00381145" "04214"
"00381614" "04214"
"00381657" "04214"
"00381680" "04214"
"00381710" "04214"
"00381913" "04214"
"00382273" "04214"
"00382274" "04214"
"00382276" "04214"
"00382277" "04214"
"00382537" "04214"
"00382538" "04214"
"00382539" "04214"
"00383778" "04214"
"00383779" "04214"
"00383843" "04214"
"00383850" "04214"
"00383851" "04214"
"00383852" "04214"
"00383858" "04214"
"00383860" "04214"
"00383865" "04214"
"00383867" "04214"
"00384361" "04214"
"00384449" "00198"
"00385001" "04214"
"00385011" "04214"
"00385053" "04214"
"00385067" "04214"
"00385076" "04214"
"00385088" "04214"
"00385963" "04214"
"00386203" "04214"
"00386248" "04214"
"00386903" "04214"
"00387510" "04214"
"00388154" "04214"
"00388155" "04214"
"00389123" "04214"
"00389124" "04214"
"00389169" "04214"
"00389495" "04214"
"00389612" "04214"
"00389659" "04214"
"00389737" "04214"
"00390246" "04214"
"00390247" "04214"
"00390248" "04214"
"00390945" "04214"
"00391156" "04214"
"00391157" "04214"
"00391158" "04214"
"00391575" "04214"
"00391640" "04214"
"00392374" "04214"
"00392637" "04214"
"00392642" "04214"
"00393521" "04214"
"00393603" "04214"
"00396227" "04214"
"00396408" "04214"
"00404109" "04214"
"00406071" "04214"
"00406072" "04214"
"00406073" "04214"
"00406074" "04214"
"00406075" "04214"
"00406076" "04214"
"00406077" "04214"
"00406078" "04214"
"00406079" "04214"
"00406080" "04214"
"00406081" "04214"
"00406082" "04214"
"00406083" "04214"
"00406205" "04214"
"00406206" "04214"
"00406207" "04214"
"00406208" "04214"
"00406209" "04214"
"00406210" "04214"
"00406211" "04214"
"00406212" "04214"
"00406213" "04214"
"00406214" "04214"
"00406215" "04214"
"00406216" "04214"
"00406217" "04214"
"00406218" "04214"
"00406219" "04214"
"00406220" "04214"
"00406221" "04214"
"00406222" "04214"
"00406236" "04214"
"00406324" "04214"
"00406325" "04214"
"00406358" "04214"
"00406359" "04214"
"00406394" "04214"
"00406572" "04214"
"00406573" "04214"
"00406574" "04214"
"00406575" "04214"
"00406576" "04214"
"00406577" "04214"
"00406829" "04214"
"00406830" "04214"
"00408426" "04214"
"00408427" "04214"
"00408428" "04214"
"00408429" "04214"
"00419701" "04214"
"00419704" "04214"
"00419705" "04214"
"00426925" "04214"
"00429559" "00112"
"00429573" "00112"
"00429591" "00112"
"00429750" "00112"
"00430034" "04210"
"00446930" "00198"
"00447052" "00198"
"00447057" "00198"
"00447062" "00198"
"00447101" "00198"
"00447102" "00198"
"00447169" "00198"
"00447186" "00198"
"00450821" "04249"
"00450822" "04249"
"00450823" "04249"
"00450824" "04249"
"00450825" "04249"
"00450826" "04249"
"00450827" "04249"
"00450828" "04249"
"00450829" "04249"
"00450830" "04249"
"00450831" "04249"
"00450832" "04249"
"00450833" "04249"
"00450834" "04249"
"00461074" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 01261, 03367, 03452, 04210, 04214, 04249
## Count = 253
"{{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}}"
"0000026563" "04214" "00033134" "00229" "Unknown" "0d" "retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026584" "04214" "00033155" "00229" "Unknown" "34y" "subtle hearing loss, fibromyalgia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000082907" "04214" "00105015" "01244" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000138719" "04214" "00173866" "02449" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" ""
"0000207296" "04210" "00269472" "03508" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000207298" "04210" "00269473" "03508" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000233821" "04214" "00308394" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000233822" "04214" "00308395" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000233823" "04214" "00308396" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000233829" "04214" "00308402" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000233934" "04214" "00308506" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234448" "04214" "00309128" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000245149" "04214" "00326683" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" ""
"0000245254" "04214" "00326788" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant cone-rod dystrophy" ""
"0000245255" "04214" "00326789" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant cone-rod dystrophy" ""
"0000245256" "04214" "00326790" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant cone-rod dystrophy" ""
"0000245262" "04214" "00326796" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" ""
"0000246366" "04214" "00328139" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246395" "04214" "00328168" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000246507" "04214" "00328280" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246631" "04214" "00328405" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" ""
"0000249472" "04214" "00331278" "00000" "Familial, autosomal dominant" "72y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000250225" "04214" "00332034" "00000" "Familial, autosomal dominant" "24y" "reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline" "7y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250226" "04214" "00332035" "00000" "Familial, autosomal dominant" "58y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "58y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250227" "04214" "00332036" "00000" "Familial, autosomal dominant" "55y" "photophobia; scotopic ERG normalreduced; photopic ERG borderline" "50y" "" "photophobia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250228" "04214" "00332037" "00000" "Familial, autosomal dominant" "26y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished" "" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250411" "04214" "00332224" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250579" "04214" "00332393" "00000" "Isolated (sporadic)" "1y9m" "horizontal jerk nystagmus; fundus pigmentary changes; no oculodigital sign; ERG extinguished" "" "" "" "" "" "" "" "" "LCA" "Leber congenital amaurosis" ""
"0000251625" "04214" "00333440" "00000" "Familial, autosomal dominant" "32y" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000251627" "04214" "00333442" "00000" "Unknown" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000251628" "04214" "00333443" "00000" "Familial, autosomal dominant" "3y" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000251629" "04214" "00333444" "00000" "Unknown" "6y" "see paper; ..." "" "" "" "" "" "" "" "" "" "no vision evaluation" ""
"0000251767" "04214" "00333583" "00000" "Familial, autosomal dominant" "56y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251809" "04214" "00333625" "00000" "Familial, autosomal dominant" "49y" "clinical category IA1bii" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000251817" "04214" "00333633" "00000" "Familial, autosomal dominant" "10y" "clinical category IA2a" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (crx)" ""
"0000252504" "04214" "00334415" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252825" "00198" "00335110" "00000" "Unknown" "" "2y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252826" "00198" "00335111" "00000" "Unknown" "" "18y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252932" "04214" "00335217" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000253017" "04214" "00335302" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253347" "04214" "00335401" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253353" "04214" "00335407" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253434" "04214" "00335489" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000253556" "04214" "00335636" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" ""
"0000253557" "04214" "00335637" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" ""
"0000254178" "04214" "00358918" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000254332" "04214" "00359035" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254374" "04214" "00359077" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" ""
"0000254527" "04214" "00359230" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254533" "04214" "00359236" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254656" "04214" "00359385" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000257477" "04214" "00362063" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257478" "04214" "00362064" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257479" "04214" "00362065" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257569" "04214" "00362155" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257570" "04214" "00362156" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257577" "04214" "00362163" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000257582" "04214" "00362168" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000258263" "04214" "00362897" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000258269" "04214" "00362903" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000258747" "04214" "00363382" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" ""
"0000258817" "04214" "00363456" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000258931" "04214" "00363581" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000258944" "04214" "00363594" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000259024" "04214" "00363674" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000259040" "04214" "00363690" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000267721" "04214" "00372406" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000267759" "04214" "00372444" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000267916" "04214" "00372637" "00000" "Familial, autosomal dominant" "5y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267923" "04214" "00372644" "00000" "Familial, autosomal dominant" "21y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268632" "04214" "00373356" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268741" "04214" "00373465" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000269075" "04214" "00373866" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270170" "04214" "00374960" "00000" "Isolated (sporadic)" "22y" "best corrected visual acuity 0.1/0.1" "10y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000270194" "04214" "00374984" "00006" "Unknown" "28y" "see paper; ..." "" "" "" "" "" "" "" "" "" "bull\'s-eye maculopathy" ""
"0000270195" "04214" "00374985" "00006" "Unknown" "51y" "see paper; ..." "" "" "" "" "" "" "" "" "" "bull\'s-eye maculopathy" ""
"0000270487" "04214" "00375273" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270488" "04214" "00375274" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270545" "04214" "00375331" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270724" "04214" "00375510" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000271390" "04214" "00376180" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "simplex renitis pigmentosa, multiplex retinitis pigmentosa" ""
"0000271392" "04214" "00376182" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex renitis pigmentosa" ""
"0000271398" "04214" "00376188" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex renitis pigmentosa" ""
"0000271400" "04214" "00376190" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex renitis pigmentosa, multiplex retinitis pigmentosa" ""
"0000271507" "04214" "00376299" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy (CRD)" ""
"0000271508" "04214" "00376300" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy (CRD)" ""
"0000271509" "04214" "00376301" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy (CRD)" ""
"0000271510" "04214" "00376302" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy (CRD)" ""
"0000271687" "04214" "00376480" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000271926" "04214" "00376715" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000271927" "04214" "00376716" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000271980" "04214" "00376769" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "" "Progressive pigmentary retinopathy" ""
"0000271993" "04214" "00376782" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272521" "04214" "00377371" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272522" "04214" "00377372" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272523" "04214" "00377373" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272660" "04214" "00377510" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272661" "04214" "00377511" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272675" "04214" "00377525" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" ""
"0000272686" "04214" "00377536" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" ""
"0000273045" "04214" "00377899" "00000" "Familial, autosomal dominant" "2m" "" "3m" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" ""
"0000273046" "04214" "00377900" "00000" "Isolated (sporadic)" "10y" "" "<1y" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" ""
"0000273047" "04214" "00377901" "00000" "Familial, autosomal dominant" "14y" "" "2m" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" ""
"0000273322" "04214" "00379449" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" ""
"0000273464" "04214" "00379610" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant retinitis pigmentosa (adRP)" ""
"0000273649" "03367" "00379794" "03508" "Familial, autosomal dominant" "" "HP:0030515,\tHP:0001123,\tHP:0030636,\tHP:0011003" "" "" "" "" "" "" "" "" "" "dystrophy, macular, occult (OCMD)" ""
"0000273681" "04214" "00379827" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000274108" "04214" "00380257" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000274858" "04214" "00381007" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000274881" "04214" "00381030" "00000" "Isolated (sporadic)" "6m" "poor vision, roving nystagmus" "6m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000274996" "04214" "00381145" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275456" "04214" "00381614" "00000" "Isolated (sporadic)" "" "" "52y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275499" "04214" "00381657" "00000" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275522" "04214" "00381680" "00000" "Isolated (sporadic)" "" "" "14y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275552" "04214" "00381710" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" ""
"0000275755" "04214" "00381913" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000276122" "04214" "00382273" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" ""
"0000276123" "04214" "00382274" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" ""
"0000276125" "04214" "00382276" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000276126" "04214" "00382277" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276386" "04214" "00382537" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276387" "04214" "00382538" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276388" "04214" "00382539" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277563" "04214" "00383778" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000277564" "04214" "00383779" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000277628" "04214" "00383843" "00000" "Familial, autosomal dominant" "49y" "BCVA OD-OS: 20/300-20/500" "" "40y" "" "" "" "" "" "" "" "" ""
"0000277635" "04214" "00383850" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" ""
"0000277636" "04214" "00383851" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277637" "04214" "00383852" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy" ""
"0000277643" "04214" "00383858" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" ""
"0000277645" "04214" "00383860" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Bull\'s eye macular dystrophy" ""
"0000277650" "04214" "00383865" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Bull\'s eye macular dystrophy" ""
"0000277652" "04214" "00383867" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Bull\'s eye macular dystrophy" ""
"0000278146" "04214" "00384361" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Chroroideremia" ""
"0000278234" "00198" "00384449" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "high myopia" ""
"0000278785" "04214" "00385001" "00000" "Isolated (sporadic)" "5y" "nystagmus, best corrected visual acuity right/left eye: 0.03/0.03" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000278795" "04214" "00385011" "00000" "Familial, autosomal dominant" "49y" "nystagmus, ERG extinguished, best corrected visual acuity right/left eye: 0.08/0.05" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000278837" "04214" "00385053" "00000" "Isolated (sporadic)" "5y" "nyctalopia/photophobia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000278851" "04214" "00385067" "00000" "Isolated (sporadic)" "2y" "no nyctalopia/photophobia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000278860" "04214" "00385076" "00000" "Familial, autosomal dominant" "4y" "no nyctalopia/photophobia, nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NA" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000278872" "04214" "00385088" "00000" "Isolated (sporadic)" "22y" "nyctalopia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.01/0.02" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000279764" "04214" "00385963" "00000" "Familial, autosomal dominant" "" "" "17y" "" "" "" "" "" "" "" "" "Macular dystrophy" ""
"0000280006" "04214" "00386203" "00000" "Familial, X-linked" "16y" "" "" "6y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" ""
"0000280051" "04214" "00386248" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000280703" "04214" "00386903" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000281073" "04214" "00387510" "00000" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD)" ""
"0000281747" "04214" "00388154" "00000" "Unknown" "30y8m" "Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: HM/HM, fundus: Macular degeneration, ERG: Extinguished" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000281748" "04214" "00388155" "00000" "Unknown" "1y0m" "Nystagmus: Infrequent 2Hz RBJ bilateral symmetric, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Granularity at macula & Mild pigmentary change, ERG: Extinguished" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000282664" "04214" "00389123" "00000" "Familial, autosomal dominant" "48y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282665" "04214" "00389124" "00000" "Familial, autosomal dominant" "46y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282710" "04214" "00389169" "00000" "Familial, autosomal recessive" "16y" "age at genetic diagnosis mentioned" "" "16y" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000283036" "04214" "00389495" "00000" "Familial, autosomal dominant" "51y" "age at genetic diagnosis mentioned" "" "47y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000283153" "04214" "00389612" "00000" "Familial, autosomal dominant" "49y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283200" "04214" "00389659" "00000" "Familial, autosomal dominant" "66y" "age at genetic diagnosis mentioned" "" "63y" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283278" "04214" "00389737" "00000" "Familial, autosomal dominant" "62y" "age at genetic diagnosis mentioned" "" "56y" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283784" "04214" "00390246" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283785" "04214" "00390247" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283786" "04214" "00390248" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284433" "04214" "00390945" "00000" "Unknown" "31y-35y" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" ""
"0000284598" "04214" "00391156" "00000" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284599" "04214" "00391157" "00000" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284600" "04214" "00391158" "00000" "Unknown" "58y" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284911" "04214" "00391575" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000284965" "04214" "00391640" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/200;20/200" "5m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000285650" "04214" "00392374" "00000" "Familial, autosomal dominant" "17y" "best corrected visual acuity right/left eye: 0.4/0.3, electroretinograhy responses: not available" "<5y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" ""
"0000285884" "04214" "00392637" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "cone-rod dystrophy" ""
"0000285889" "04214" "00392642" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "cone-rod dystrophy" ""
"0000286727" "04214" "00393521" "00000" "Isolated (sporadic)" "4y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000286809" "04214" "00393603" "00000" "Familial, autosomal dominant" "34y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" ""
"0000289389" "04214" "00396227" "00000" "Familial, autosomal dominant" "9y" "3 months: no fixation, no pacing, no eye contact, 4 months: nystagmus, 5 months: oculo-digital sign" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000289570" "04214" "00396408" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000296698" "04214" "00404109" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000298569" "04214" "00406071" "00000" "Familial, autosomal dominant" "46y" "Family history of retinal degeneration; at 35y routine examination: best corrected visual acuity: (BCVA) 20/20 in each eye, mild myopic refraction ( -1.00 + 0.50 x 115 right, -2.00 + 0.75 x 78 left eye); 39y - remained asymptomatic, fundus: ring-shaped area of faint atrophy of the retinal pigment epithelium (RPE) surrounding a normal appearing fovea (bull\'s eye pattern) with a normal optic nerve, normal vasculature, and normal peripheral retina both eyes; visual field: central defect both eyes; acuity normal until 46y - BCVA right, left eye: 20/25, 20/50-; fundus: mild progression of the paracentral geographic atrophy; fundus autofluorescence: central area of normal fluorescence surrounded by a ring-shaped area of hypofluorescence and an outer ring of hyperfluorescence in both eyes; central areas of normal fluorescence decreased in size during 4 years, atrophy of the outer retina and the RPE, loss of the ellipsoid zone paracentrally, and increased choroidal hyperreflectivity; visual field 46y: central scoma in each eye" "" "" "" "" "" "" "" "" "adult-onset macular dystrophy" "benign concentric annular macular dystrophy" ""
"0000298570" "04214" "00406072" "00000" "Familial, autosomal dominant" "65y" "at presentation, best corrected visual acuity right, left eye: 20/400+1, 20/25 OS, minimal refractive error, fundus: geographic atrophy in the macula of both eyes with foveal sparing in only the left eye; sectoral atrophy with pigmentary changes in the inferior peripheral retina in both eyes; color vision tested with Ishihara color plates: severely limited with the patient only able to see the leader plate in each eye; optical coherence tomography 58y: atrophy of the outer retina, subretinal excrescences, and segmental loss of the ellipsoid zone and the RPE; fundus autofluorescence (FAF): parafoveal hypofluorescence and an outer ring of hyperfluorescence with a small central area of normal fluorescence in both eyes; repeated examinations in 2013, 2014, and 2015 remained essentially unchanged except for improved BCVA (20/80 right eye, 20/25-2 left eye); minimal progression based on macular pigmentation and FAF" "55y" "" "gradual decrease in vision in her right eye from 20/30 over 2 years" "" "" "" "" "" "adult-onset macular dystrophy" "benign concentric annular macular dystrophy" ""
"0000298571" "04214" "00406073" "00000" "Familial, autosomal dominant" "19y" "uncorrected visual acuity: 0.5 both eyes, no significant improvement with spectacles. progressive decrease of visual acuity over the past 4 years, night blindness became severe; uncorrected visual acuity right/left eye: 0.15 / 0.1, no improvement with correction; anterior segment: normal; fundus: a clear optic disc border, slightly light color, a thinning artery, mid-peripheral diffuse retinal pigment epithelium atrophy, gold foil-like reflection, and geographic pigment epithelium atrophy foci in each macular area; fundus autofluorescence: delayed retinal arterial filling, diffuse transmitted fluorescence, and irregularly geographic hypofluorescence in the macular area; optical coherence tomography: thinning retinal nerve epithelium layer in the macular area, a significantly thinning outer nuclear layer of the fovea centralis, and an absent fovea centralis, with the structure of the inner segment/outer segment layer difficult to distinguish; visual field examination: quadrant defects in the nasal field; full field electroretinography: rod cell response amplitude and maximum response amplitude were both decreased, and both the cone cell reaction and 30Hz scintillation reaction indicated the absence of an effective waveform" "9y" "" "bilateral vision loss, photophobia, and impaired vision in the dark" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298572" "04214" "00406074" "00000" "Familial, autosomal dominant" "" "uncorrected visual acuity right/left eye: 0.2 / 0.05, fundus examination: diffuse retinal pigment epithelium atrophy and geographic atrophy foci in the macular area; fundus autofluorescence: hypofluorescence in the fovea centralis of the macular area surrounded by punctate hyperfluorescence, with no fluorescence leakage; optical coherence tomography: undefined inner segment/outer segment layer, and a significantly thinning outer nuclear layer of the fovea centralis; visual field: quadrant defects; full field electroretinography: rod cell response amplitude and maximum response amplitude were both decreased, and both the cone cell reaction and 30Hz scintillation reaction indicated the absence of an effective wavefom" "15y" "" "progressive bilateral vision loss and photophobia" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298573" "04214" "00406075" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298574" "04214" "00406076" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298575" "04214" "00406077" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298576" "04214" "00406078" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298577" "04214" "00406079" "00000" "Familial, autosomal dominant" "25y" "best-corrected central visual acuity left, right eye: 20/400 and 20/40; visual field: 24-2 degrees out of the normal range; fundus: macular atrophy in both eyes, more severe in the left eye; fundus autofluorescence: hypoautofluorescence of the foveal and para-foveal areas, with a rim of hyperautofluorescence involving surrounding the peri-foveal area; full field electroretinography: lower normal dark-adapted scotopic 0.01 and 3.0 cd.s/m2 intensity responses, with considerably reduced light adapted photopic response; macular optical coherence tomography: disruption of ellipsoid zone and thinning of the photoreceptor layer, most prominently in the para-foveal area than in the fovea and perifoveal areas" "" "" "gradually deteriorating vision in both eyes more pronounced in left eye" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298578" "04214" "00406080" "00000" "Familial, autosomal dominant" "47y" "gradually deteriorating vision, best-corrected central visual acuity: 20/ 250 both eyes, photophobia and nyctalopia; visual field: 24-2 degrees out of the normal range; fundus: both eyes - severe chorioretinal atrophy that affects extensive area of macula; fundus autofluorescence: hypoautofluorescence of the total macular area, with a rim of hyperautofluorescence; full field electroretinography: lower normal dark-adapted scotopic 0.01 and 3.0 cd.s/m2 intensity responses, with considerably reduced light adapted photopic response; macular optical coherence tomography: a completely absent ellipsoid zone with a very thin and severely atrophic photoreceptor layer in the macular area, including the foveal, para-foveal, and perifoveal areas" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298579" "04214" "00406081" "00000" "Familial, autosomal dominant" "52y" "asymptomatic - incomplete penetrance; best-corrected central visual acuity: 20/20, fundus: normal; other visual tests - normal" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298580" "04214" "00406082" "00000" "Familial, autosomal dominant" "30y" "asymptomatic - incomplete penetrance; best-corrected central visual acuity: 20/20, color vision tests: moderate Tritan-Blue deficiency; visual field: borderline defect; fundus: normal, full field electroretinography: normal levels for scotopic responses but lower normal results only for light-adapted photopic responses; optical coherence tomography: only a subtle disruption of ellipsoid zone in the para-foveal area, along with weak thinning of the outer nuclear layer" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298581" "04214" "00406083" "00000" "Familial, autosomal recessive" "8y" "best-corrected central visual acuity: 20/200 both eyes; fundus examination: bull\'s eye macular atrophy and diffuse retinal pigmentary changes in both eyes; fundus autofluorescence: large area of hypoautofluorescence of the foveal and para-foveal area extending to perifoveal area; full field electroretinography: severely decreased scotopic rod and maximum combined rod/cone responses in addition to depressed photopic cone responses, amplitudes of oscillatory and 30-Hz flicker responses decreased as well; macular optical coherence tomography: disruption of outer segment and outer nuclear layer with thinning of outer plexiform, and inner layers in foveal and parafoveal areas extending to perifoveal area" "5y" "" "gradually decreasing vision in both eyes" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298703" "04214" "00406205" "00000" "Familial, autosomal dominant" "44y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 1,1 / 0,1, refractive errors (diopters) right/left eye: -5.5 / -5.0; fundus: macular atrophy, atrophy along the arcade, fundus autofluorescence: area of low density at the central retina, ring of high density, low density areas along the arcade, foveal sparing (left eye), spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula, bull\'s eye pattern (parafoveal atrophy)" "35y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298704" "04214" "00406206" "00000" "Familial, autosomal dominant" "72y" "chief complaint: photophobia, best corrected visual acuity right/left eye: 0 / 0, refractive errors (diopters) right/left eye: -0.5 / -0.5; fundus: atrophy along the arcade, vessel attenuation, foveal sparing, fundus autofluorescence: ring of high density, low density areas along the arcade, foveal sparing, spectral domain optical coherence tomography: outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, bull\'s eye pattern (parafoveal atrophy)" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298705" "04214" "00406207" "00000" "Familial, autosomal dominant" "71y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 1 / 0,2, refractive errors (diopters) right/left eye: 0,5 / -1.5; fundus: macular atrophy, fundus autofluorescence: area of low density at the central retina, ring of high density, foveal sparing, spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula" "56y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298706" "04214" "00406208" "00000" "Familial, autosomal dominant" "94y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 2 / CF, refractive errors (diopters) right/left eye: 0 / 0; fundus: macular atrophy, atrophy along the arcade, vessel attenuation, fundus autofluorescence: spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula," "30y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298707" "04214" "00406209" "00000" "Familial, autosomal dominant" "76y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,4 / 1,7, refractive errors (diopters) right/left eye: -3.5 / not available; fundus: macular atrophy, atrophy along the arcade, peripheral atrophy, vessel attenuation, foveal sparing right eye, fundus autofluorescence: spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298708" "04214" "00406210" "00000" "Familial, autosomal dominant" "32y" "chief complaint: photophobia, best corrected visual acuity right/left eye: 0,52 / 0,52, refractive errors (diopters) right/left eye: -0.5 / -0.5; fundus: macular atrophy, fundus autofluorescence: spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298709" "04214" "00406211" "00000" "Familial, autosomal dominant" "63y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,15 / 0,4, refractive errors (diopters) right/left eye: +1.0 / +1.5; fundus: macular atrophy (slight), foveal sparing, fundus autofluorescence: ring of high density, foveal sparing, subtle change of high density at the macula,spectral domain optical coherence tomography: preservation of ellipsoid zone line at the fovea" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298710" "04214" "00406212" "00000" "Familial, autosomal dominant" "88y" "chief complaint: night blindness, best corrected visual acuity right/left eye: 1,15 / 1,22, refractive errors (diopters) right/left eye: 0 / -0.5; fundus: macular atrophy, atrophy along the arcade, vessel attenuation, pigmentation, fundus autofluorescence: area of low density at the central retina, ring of high density, low density areas along the arcade, spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula, epiretinal membrane (right eye)" "60y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298711" "04214" "00406213" "00000" "Familial, autosomal dominant" "80y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,52 / 0,82, refractive errors (diopters) right/left eye: 0 / 0; fundus: atrophy along the arcade (slight), foveal sparing, myelited fibre, fundus autofluorescence: spectral domain optical coherence tomography: slight preservation of ellipsoid zone line at the fovea" "75y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298712" "04214" "00406214" "00000" "Familial, autosomal dominant" "83y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,7 / 0,7, refractive errors (diopters) right/left eye: +2.0 / +2.0; fundus: atrophy along the arcade, vessel attenuation, foveal sparing, medial opacity, fundus autofluorescence: foveal sparing, spectral domain optical coherence tomography: slight outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, bull\'s eye pattern (parafoveal atrophy)" "77y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298713" "04214" "00406215" "00000" "Familial, autosomal dominant" "35y" "chief complaint: central visual field loss, best corrected visual acuity right/left eye: 0,22 / 0,4; fundus: macular atrophy (slight), foveal sparing, fundus autofluorescence: area of low density at the central retina, ring of high density, foveal sparing, spectral domain optical coherence tomography: slight outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, bull\'s eye pattern (parafoveal atrophy)" "31y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000298714" "04214" "00406216" "00000" "Familial, autosomal dominant" "63y" "chief complaint: no symptoms, best corrected visual acuity right/left eye: -0.08 / -0.08; fundus: macular atrophy (slight), foveal sparing, myopic conus, fundus autofluorescence: area of low density at the central retina, ring of high density, foveal sparing, spectral domain optical coherence tomography: slight outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, bull\'s eye pattern (parafoveal atrophy)" "62y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000298715" "04214" "00406217" "00000" "Familial, autosomal recessive" "41y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,7 / 0,4, refractive errors (diopters) right/left eye: +1.5 / -0.5; fundus: atrophy along the arcade (slight), peripheral atrophy, foveal sparing, fundus autofluorescence: ring of high density, petaloid changes of high density at the macula (left eye),spectral domain optical coherence tomography: outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, intraretinal minor cystic changes (right eye)" "37y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000298716" "04214" "00406218" "00000" "Familial, autosomal recessive" "50y" "chief complaint: best corrected visual acuity right/left eye: 0,82 / LP, refractive errors (diopters) right/left eye: -2.0 / not available; fundus: atrophy along the arcade, peripheral atrophy, vessel attenuation, foveal sparing, fundus autofluorescence: spectral domain optical coherence tomography: outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000298717" "04214" "00406219" "00000" "Familial, autosomal dominant" "55y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,22 / -0.18, refractive errors (diopters) right/left eye: -3.5 / -3.5; fundus: macular atrophy, pigmentation, fundus autofluorescence: area of low density at the central retina, ring of high density, spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula" "45y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298718" "04214" "00406220" "00000" "Familial, autosomal dominant" "25y" "chief complaint: night blindness, best corrected visual acuity right/left eye: 0,52 / 0,7, refractive errors (diopters) right/left eye: -3.5 / -5.0; fundus: atrophy along the arcade, peripheral atrophy, vessel attenuation, foveal sparing, fundus autofluorescence: low density areas along the arcade, low density areas in the periphery, foveal sparing, spectral domain optical coherence tomography: slight outer retinal disruption at in the peri-macula, slight preservation of ellipsoid zone line at the fovea" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000298719" "04214" "00406221" "00000" "Familial, autosomal dominant" "51y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0 / -0.08, refractive errors (diopters) right/left eye: -2.5 / -2.5; fundus: macular atrophy, foveal sparing, fundus autofluorescence: area of low density at the central retina, ring of high density, foveal sparing, spectral domain optical coherence tomography: outer retinal disruption at in the peri-macula, slight preservation of ellipsoid zone line at the foveabull\'s eye pattern (parafoveal atrophy)" "45y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298720" "04214" "00406222" "00000" "Familial, autosomal dominant" "62y" "chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,82 / 0,82, refractive errors (diopters) right/left eye: -1.0 / -1.0; fundus: macular atrophy, fundus autofluorescence: area of low density at the central retina, ring of high density, spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula" "30y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000298734" "04214" "00406236" "00000" "Unknown" "61y" "best-corrected visual acuity: 20/32 in each eye; intraocular pressure right/left eye: 12 / 10 mmHg; anterior segment: normal, fundus: 180 degrees of inferior peri-foveolar atrophy right eye, and nearcircumferential peri-foveolar atrophy left eye; spectral domain optical coherence tomography: outer retinal atrophy with central foveal sparing; fluorescein angiography: early transmission hyperfluorescence due to window defects at the areas corresponding to peri-foveolar atrophy; 60y: normal photopic and scotopic full-field electroretinography and electrooculography, and central depression on multifocal electroretinography; during 6 years of follow-up, BCVA fluctuations between 20/20 and 20/32 in both eyes, and mild increase in the area of peri-foveolar atrophy" "55y" "" "mild-blurred vision in the right eye" "" "" "" "" "" "adult-onset macular dystrophy" "benign concentric annular macular dystrophy" ""
"0000298821" "04214" "00406324" "00000" "Familial, autosomal dominant" "2y" "3m: central steady maintained fixation, no nystagmus; pupillary responses: normal, no afferent pupillary defect or paradoxical pupil; eye movements: full. no strabismus; anterior segment: normal; peripapillary hyperpigmentation, slightly small optic nerves, bilateral moderate macular hypoplasia, no abnormal blood vessels or pigmentary clumping, and a generally blond fundus; cycloplegic refraction: +4.00 both eyes; electroretinogram: isoelectric waveforms to both scotopic and photopic stimuli; 2y: visual acuity: light perception; nystagmus; anterior segment: normal; posterior segment: attenuated retinal vessels, optic atrophy, and midperipheral pigmentary dropout with some gliosis of the macular internal limiting membrane" "3m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000298822" "04214" "00406325" "00000" "Familial, autosomal dominant" "37y" "37y: visual impairment worsened until 14y (problems with daily activities); adult onset obesity with hypertension and hypercholesterolemia; visual acuity: bare light perception; pupillary responses: normal, no afferent pupillary defect or paradoxical pupil was seen; low frequency, large amplitude horizontal nystagmus with some wandering movements; eye movements: full, although there was a large angle right exotropia; anterior segment: normal; intraocular pressure: 20 mmHg in each eye; subtle pallor of the optic nerves, retinal blood vessel attenuation, and multiple pigmentary clumps in the macula and mid periphery; macula: atrophic with chorioretinal attenuation; cycloplegic refraction was + 2.00 Ds both eyes; electroretinogram: isoelectric wave forms in response to both scotopic and photopic stimuli in both eyes; fundus autofluoresence: severe abnormalities" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000298845" "04214" "00406358" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" ""
"0000298846" "04214" "00406359" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000298881" "04214" "00406394" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000299047" "04214" "00406572" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset cone-rod dystrophy" "" ""
"0000299048" "04214" "00406573" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset cone-rod dystrophy" "" ""
"0000299049" "04214" "00406574" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset cone-rod dystrophy" "" ""
"0000299050" "04214" "00406575" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset cone-rod dystrophy" "" ""
"0000299051" "04214" "00406576" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset cone-rod dystrophy" "" ""
"0000299052" "04214" "00406577" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset cone-rod dystrophy" "" ""
"0000299279" "04214" "00406829" "00000" "Familial, autosomal recessive" "26y" "no photophobia, no night blindness, visual acuity: 20/200, refraction in DS.: -7, electroretinogram: no photopic or scotopic response, non-progressive, nerve deafness (infancy); depigmented skin lesions; primary amenorrhea, coloboma-like macula, disc pallor, varied pigment mottling of retina" "7y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000299280" "04214" "00406830" "00000" "Familial, autosomal recessive" "2y" "photophobia, no night blindness, visual acuity: fixation, refraction in DS.: 5,5, electroretinogram: flat, non-progressive, esotropia, normal retinal architecture" "10m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000300542" "04214" "00408426" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000300543" "04214" "00408427" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000300544" "04214" "00408428" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000300545" "04214" "00408429" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000310981" "04214" "00419701" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310984" "04214" "00419704" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310985" "04214" "00419705" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000318063" "04214" "00426925" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000320431" "00112" "00429559" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320445" "00112" "00429573" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320463" "00112" "00429591" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320622" "00112" "00429750" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320906" "04210" "00430034" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000336129" "00198" "00446930" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" ""
"0000336251" "00198" "00447052" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336256" "00198" "00447057" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336261" "00198" "00447062" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336300" "00198" "00447101" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336301" "00198" "00447102" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336368" "00198" "00447169" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336385" "00198" "00447186" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339876" "04249" "00450821" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339877" "04249" "00450822" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339878" "04249" "00450823" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339879" "04249" "00450824" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339880" "04249" "00450825" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339881" "04249" "00450826" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339882" "04249" "00450827" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339883" "04249" "00450828" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000339884" "04249" "00450829" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339885" "04249" "00450830" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339886" "04249" "00450831" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339887" "04249" "00450832" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339888" "04249" "00450833" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339889" "04249" "00450834" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000348574" "04214" "00461074" "00006" "Familial, autosomal dominant" "" "" "55y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
## Screenings ## Do not remove or alter this header ##
## Count = 265
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000001604" "00001801" "1" "00102" "00102" "2013-08-08 19:45:16" "" "" "SEQ-NG-I" "DNA" "" ""
"0000033202" "00033134" "1" "00229" "00229" "2012-02-04 14:52:54" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033223" "00033155" "1" "00229" "00229" "2012-02-13 21:46:30" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000105489" "00105015" "1" "01244" "01244" "2017-06-15 11:17:35" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000174756" "00173866" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" ""
"0000234599" "00233500" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234600" "00233501" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234601" "00233502" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234602" "00233503" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234603" "00233504" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234604" "00233505" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234605" "00233506" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234606" "00233507" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234607" "00233508" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000270618" "00269472" "1" "03508" "03508" "2019-11-28 13:57:29" "" "" "SEQ-NG" "DNA" "blood" "Targeted gene panel"
"0000270619" "00269473" "1" "03508" "03508" "2019-11-28 14:19:04" "" "" "SEQ-NG" "DNA" "blood" "Targeted gene panel"
"0000293330" "00292162" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293331" "00292163" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309538" "00308394" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel"
"0000309539" "00308395" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel"
"0000309540" "00308396" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel"
"0000309546" "00308402" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel"
"0000309651" "00308506" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000310273" "00309128" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000327896" "00326683" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC" "DNA" "blood" ""
"0000328001" "00326788" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" ""
"0000328002" "00326789" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" ""
"0000328003" "00326790" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" ""
"0000328009" "00326796" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" ""
"0000329354" "00328139" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329383" "00328168" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329495" "00328280" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329619" "00328405" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000332498" "00331278" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel"
"0000333253" "00332034" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333254" "00332035" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333255" "00332036" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333256" "00332037" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333444" "00332224" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333617" "00332393" "1" "00000" "00006" "2021-02-18 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000334665" "00333440" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000334667" "00333442" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000334668" "00333443" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000334669" "00333444" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000334809" "00333583" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334851" "00333625" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334859" "00333633" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000335644" "00334415" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336339" "00335110" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336340" "00335111" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336446" "00335217" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000336531" "00335302" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336630" "00335401" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336636" "00335407" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336718" "00335489" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336864" "00335636" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" ""
"0000336865" "00335637" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" ""
"0000360151" "00358918" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000360273" "00359035" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360315" "00359077" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360468" "00359230" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360474" "00359236" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360627" "00359385" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel"
"0000363292" "00362063" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363293" "00362064" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363294" "00362065" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363384" "00362155" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363385" "00362156" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363392" "00362163" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000363397" "00362168" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364125" "00362897" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel, WES"
"0000364131" "00362903" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364610" "00363382" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364684" "00363456" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel"
"0000364809" "00363581" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364822" "00363594" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364902" "00363674" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364918" "00363690" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373639" "00372406" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000373677" "00372444" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000373869" "00372637" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373876" "00372644" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374591" "00373356" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000374700" "00373465" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel"
"0000375098" "00373866" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel"
"0000376154" "00374960" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel"
"0000376178" "00374984" "1" "00006" "00006" "2021-05-27 18:20:09" "" "" "SEQ" "DNA" "" ""
"0000376179" "00374985" "1" "00006" "00006" "2021-05-27 18:22:41" "" "" "SEQ" "DNA" "" ""
"0000376470" "00375273" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376471" "00375274" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376528" "00375331" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376707" "00375510" "1" "00000" "00006" "2021-06-04 12:49:21" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000377376" "00376180" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" ""
"0000377378" "00376182" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" ""
"0000377384" "00376188" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" ""
"0000377386" "00376190" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" ""
"0000377495" "00376299" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" ""
"0000377496" "00376300" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" ""
"0000377497" "00376301" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" ""
"0000377498" "00376302" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" ""
"0000377685" "00376480" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ;PCR;DHPLC" "DNA" "blood" ""
"0000377921" "00376715" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "arraySEQ" "DNA" "" ""
"0000377922" "00376716" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "arraySEQ" "DNA" "" ""
"0000377975" "00376769" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377988" "00376782" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000378574" "00377371" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378575" "00377372" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378576" "00377373" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378713" "00377510" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "MLPA" "DNA" "" "+arrayCGH, SEQ-NG"
"0000378714" "00377511" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "MLPA" "DNA" "" "+arrayCGH, SEQ-NG"
"0000378728" "00377525" "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"
"0000378739" "00377536" "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 seuqencing, The RPGR exon ORF15 analysis, multiplex ligation-dependent probe amplification analysis"
"0000379103" "00377899" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379104" "00377900" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379105" "00377901" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000380649" "00379449" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES"
"0000380809" "00379610" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "arraySNP" "DNA" "blood" "adRP genotyping microarray"
"0000380997" "00379794" "1" "03508" "03508" "2021-08-10 03:20:45" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381029" "00379827" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381471" "00380257" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" ""
"0000382221" "00381007" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay"
"0000382244" "00381030" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" ""
"0000382360" "00381145" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "Asper chip analysis"
"0000382830" "00381614" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382873" "00381657" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382896" "00381680" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382926" "00381710" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" ""
"0000383129" "00381913" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383487" "00382273" "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"
"0000383488" "00382274" "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"
"0000383490" "00382276" "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"
"0000383491" "00382277" "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"
"0000383751" "00382537" "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"
"0000383752" "00382538" "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"
"0000383753" "00382539" "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"
"0000385003" "00383778" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" ""
"0000385004" "00383779" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" ""
"0000385068" "00383843" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis"
"0000385075" "00383850" "1" "00000" "03840" "2021-09-29 12:47:26" "" "" "SEQ-NG" "DNA" "blood" "105 retinal dystrophy-associated genes"
"0000385076" "00383851" "1" "00000" "03840" "2021-09-29 12:47:26" "" "" "SEQ-NG" "DNA" "blood" "105 retinal dystrophy-associated genes"
"0000385077" "00383852" "1" "00000" "03840" "2021-09-29 12:47:26" "" "" "SEQ-NG" "DNA" "blood" "105 retinal dystrophy-associated genes"
"0000385083" "00383858" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385085" "00383860" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385090" "00383865" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385092" "00383867" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385586" "00384361" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385674" "00384449" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000386230" "00385001" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing"
"0000386240" "00385011" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing"
"0000386282" "00385053" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing"
"0000386296" "00385067" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing"
"0000386305" "00385076" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ" "DNA" "" "Sanger sequencing"
"0000386317" "00385088" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing"
"0000387191" "00385963" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ-NG;PCR" "DNA" "" ""
"0000387432" "00386203" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387477" "00386248" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000388131" "00386903" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" ""
"0000388736" "00387510" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" ""
"0000389393" "00388154" "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"
"0000389394" "00388155" "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"
"0000390366" "00389123" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper"
"0000390367" "00389124" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390412" "00389169" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000390738" "00389495" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000390855" "00389612" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper"
"0000390902" "00389659" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000390980" "00389737" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper"
"0000391487" "00390246" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391488" "00390247" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391489" "00390248" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000392186" "00390945" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392398" "00391156" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000392399" "00391157" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000392400" "00391158" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000392817" "00391575" "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"
"0000392881" "00391640" "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"
"0000393616" "00392374" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing"
"0000393884" "00392637" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393889" "00392642" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000394769" "00393521" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394851" "00393603" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000397468" "00396227" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP" "DNA" "" ""
"0000397649" "00396408" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000405347" "00404109" "1" "00006" "00006" "2022-02-27 18:44:58" "" "" "SEQ" "DNA" "" ""
"0000407312" "00406071" "1" "00000" "03840" "2022-03-25 10:48:41" "" "" "SEQ-NG;SEQ" "DNA" "blood" "131 retinal dystrophy genes"
"0000407313" "00406072" "1" "00000" "03840" "2022-03-25 10:48:41" "" "" "SEQ" "DNA" "blood" ""
"0000407314" "00406073" "1" "00000" "03840" "2022-03-25 13:52:05" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407315" "00406074" "1" "00000" "03840" "2022-03-25 13:52:05" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407316" "00406075" "1" "00000" "03840" "2022-03-25 13:52:05" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407317" "00406076" "1" "00000" "03840" "2022-03-25 13:52:05" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407318" "00406077" "1" "00000" "03840" "2022-03-25 13:52:05" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407319" "00406078" "1" "00000" "03840" "2022-03-25 13:52:05" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407320" "00406079" "1" "00000" "03840" "2022-03-25 14:43:22" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407321" "00406080" "1" "00000" "03840" "2022-03-25 14:43:22" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407322" "00406081" "1" "00000" "03840" "2022-03-25 14:43:22" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407323" "00406082" "1" "00000" "03840" "2022-03-25 14:43:22" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407324" "00406083" "1" "00000" "03840" "2022-03-25 14:43:22" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407446" "00406205" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407447" "00406206" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407448" "00406207" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407449" "00406208" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407450" "00406209" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407451" "00406210" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407452" "00406211" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407453" "00406212" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407454" "00406213" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407455" "00406214" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407456" "00406215" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407457" "00406216" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407458" "00406217" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407459" "00406218" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407460" "00406219" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407461" "00406220" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407462" "00406221" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407463" "00406222" "1" "00000" "03840" "2022-03-25 16:05:43" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000407477" "00406236" "1" "00000" "03840" "2022-03-25 19:28:21" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407565" "00406324" "1" "00000" "03840" "2022-03-28 13:17:29" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407566" "00406325" "1" "00000" "03840" "2022-03-28 13:17:29" "" "" "SEQ-NG" "DNA" "blood" ""
"0000407600" "00406358" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" ""
"0000407601" "00406359" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" ""
"0000407636" "00406394" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" ""
"0000407815" "00406572" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000407816" "00406573" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000407817" "00406574" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000407818" "00406575" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000407819" "00406576" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000407820" "00406577" "1" "00000" "03840" "2022-04-01 15:23:22" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000408076" "00406829" "1" "00000" "03840" "2022-04-05 14:08:57" "" "" "SEQ" "DNA" "" ""
"0000408077" "00406830" "1" "00000" "03840" "2022-04-05 14:08:57" "" "" "SEQ" "DNA" "" ""
"0000409683" "00408426" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409684" "00408427" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409685" "00408428" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409686" "00408429" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000421006" "00419701" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421009" "00419704" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421010" "00419705" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000428245" "00426925" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000430972" "00429559" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430986" "00429573" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431004" "00429591" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431163" "00429750" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431447" "00430034" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000448507" "00446930" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448629" "00447052" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448634" "00447057" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448639" "00447062" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448678" "00447101" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448679" "00447102" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448746" "00447169" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448763" "00447186" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000452419" "00450821" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452420" "00450822" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452421" "00450823" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452422" "00450824" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452423" "00450825" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452424" "00450826" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452425" "00450827" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452426" "00450828" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452427" "00450829" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452428" "00450830" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452429" "00450831" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452430" "00450832" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452431" "00450833" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452432" "00450834" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000462706" "00461074" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 233
"{{screeningid}}" "{{geneid}}"
"0000033202" "CEP290"
"0000033202" "CRX"
"0000033202" "RIMS1"
"0000033223" "CRX"
"0000033223" "RPGR"
"0000174756" "MERTK"
"0000234599" "CRX"
"0000234600" "CRX"
"0000234601" "CRX"
"0000234602" "CRX"
"0000234603" "CRX"
"0000234604" "CRX"
"0000234605" "CRX"
"0000234606" "CRX"
"0000234607" "CRX"
"0000309538" "CRX"
"0000309539" "CRX"
"0000309540" "CRX"
"0000309546" "CRX"
"0000309651" "CRX"
"0000310273" "CRX"
"0000327896" "CRX"
"0000328001" "CRX"
"0000328002" "CRX"
"0000328003" "CRX"
"0000328009" "CRX"
"0000329354" "CRX"
"0000329383" "CRX"
"0000329495" "CRX"
"0000329619" "CRX"
"0000329619" "JAG1"
"0000332498" "CRX"
"0000333253" "CRX"
"0000333254" "CRX"
"0000333255" "CRX"
"0000333256" "CRX"
"0000333617" "CRX"
"0000334809" "CRX"
"0000334851" "CRX"
"0000334859" "CRX"
"0000335644" "CRX"
"0000336339" "CNGB3"
"0000336339" "CRX"
"0000336340" "CRX"
"0000336446" "CRX"
"0000336531" "CRX"
"0000336630" "CRX"
"0000336636" "CRX"
"0000336718" "CRX"
"0000336864" "CRX"
"0000336865" "CRX"
"0000360151" "CRX"
"0000363292" "CRX"
"0000363293" "CRX"
"0000363294" "CRX"
"0000363384" "CRX"
"0000363385" "CRX"
"0000363392" "CRX"
"0000363397" "CRX"
"0000364125" "CRX"
"0000364131" "CRX"
"0000364610" "CRX"
"0000364684" "CRX"
"0000364809" "CRX"
"0000364822" "CRX"
"0000364902" "CRX"
"0000364918" "CRX"
"0000373639" "CRX"
"0000373677" "CRX"
"0000374700" "CRX"
"0000375098" "CRX"
"0000376178" "CRX"
"0000376179" "CRX"
"0000376470" "CRX"
"0000376471" "CRX"
"0000376528" "CRX"
"0000376707" "CRX"
"0000376707" "GUCY2D"
"0000377376" "CRX"
"0000377378" "CRX"
"0000377384" "CRX"
"0000377386" "CRX"
"0000377495" "CRX"
"0000377496" "CRX"
"0000377497" "CRX"
"0000377498" "CRX"
"0000377685" "CRX"
"0000377921" "AIPL1"
"0000377921" "CRB1"
"0000377921" "CRX"
"0000377921" "GUCY2D"
"0000377921" "LRAT"
"0000377921" "MERTK"
"0000377921" "RPE65"
"0000377921" "RPGRIP1"
"0000377922" "AIPL1"
"0000377922" "CRB1"
"0000377922" "CRX"
"0000377922" "GUCY2D"
"0000377922" "LRAT"
"0000377922" "MERTK"
"0000377922" "RPE65"
"0000377922" "RPGRIP1"
"0000378574" "CRX"
"0000378575" "CRX"
"0000378576" "CRX"
"0000378713" "CRX"
"0000378714" "CRX"
"0000379103" "CRX"
"0000379104" "CRX"
"0000379105" "CRX"
"0000380649" "CRX"
"0000380809" "CRX"
"0000381029" "CRX"
"0000381471" "CRX"
"0000382221" "CRX"
"0000382244" "CRX"
"0000382360" "CRX"
"0000382360" "RPE65"
"0000382830" "CRX"
"0000382873" "RP1"
"0000382896" "RHO"
"0000382926" "CRX"
"0000383129" "CRX"
"0000383487" "CRX"
"0000383488" "CRX"
"0000383490" "CRX"
"0000383491" "CRX"
"0000383751" "CACNA1F"
"0000383752" "ABCA4"
"0000383753" "CRX"
"0000385003" "PROM1"
"0000385004" "PROM1"
"0000385075" "ABCA4"
"0000385076" "ABCA4"
"0000385077" "CRX"
"0000385083" "CRX"
"0000385085" "CRX"
"0000385090" "CRX"
"0000385092" "CRX"
"0000385586" "CRX"
"0000385674" "CRX"
"0000386230" "CRX"
"0000386240" "CRX"
"0000386282" "CRX"
"0000386296" "CRX"
"0000386305" "CRX"
"0000386317" "CRX"
"0000387191" "CRX"
"0000387432" "RPGR"
"0000387477" "CRX"
"0000388131" "CRX"
"0000388736" "CRX"
"0000389393" "CRX"
"0000389394" "CRX"
"0000390366" "CRX"
"0000390367" "CRX"
"0000390412" "CRX"
"0000390738" "CRX"
"0000390855" "CRX"
"0000390902" "CRX"
"0000390980" "CRX"
"0000391487" "CRX"
"0000391488" "CRX"
"0000391489" "CRX"
"0000392186" "CRX"
"0000392398" "CRX"
"0000392399" "CRX"
"0000392400" "CRX"
"0000392817" "CRX"
"0000392881" "CRX"
"0000393616" "CRX"
"0000393884" "CRX"
"0000393889" "CRX"
"0000394769" "CRX"
"0000394851" "CRX"
"0000397468" "CRX"
"0000405347" "CRX"
"0000407312" "CRX"
"0000407313" "CRX"
"0000407314" "CRX"
"0000407315" "CRX"
"0000407316" "CRX"
"0000407317" "CRX"
"0000407318" "CRX"
"0000407319" "CRX"
"0000407320" "CRX"
"0000407321" "CRX"
"0000407322" "CRX"
"0000407323" "CRX"
"0000407324" "CRX"
"0000407446" "CRX"
"0000407447" "CRX"
"0000407448" "CRX"
"0000407449" "CRX"
"0000407450" "CRX"
"0000407451" "CRX"
"0000407452" "CRX"
"0000407453" "CRX"
"0000407454" "CRX"
"0000407455" "CRX"
"0000407456" "CRX"
"0000407457" "CRX"
"0000407458" "CRX"
"0000407459" "CRX"
"0000407460" "CRX"
"0000407461" "CRX"
"0000407462" "CRX"
"0000407463" "CRX"
"0000407477" "CRX"
"0000407565" "CRX"
"0000407566" "CRX"
"0000407600" "CRX"
"0000407601" "CRX"
"0000407636" "CRX"
"0000407815" "CRX"
"0000407816" "CRX"
"0000407817" "CRX"
"0000407818" "CRX"
"0000407819" "CRX"
"0000407820" "CRX"
"0000408076" "CRX"
"0000408077" "CRX"
"0000409683" "CRX"
"0000409684" "CRX"
"0000409685" "CRX"
"0000409686" "CRX"
"0000428245" "CRX"
"0000430972" "CRX"
"0000430986" "CRX"
"0000431004" "CRX"
"0000431163" "CRX"
"0000431447" "CRX"
## 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 = 314
"{{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}}"
"0000019506" "0" "90" "19" "48342761" "48342773" "del" "0" "00102" "CRX_000003" "g.48342761_48342773del" "" "" "" "48342755_48342767del13" "" "Unknown" "" "" "0" "" "" "g.47839504_47839516del" "" "pathogenic" ""
"0000059873" "1" "50" "19" "48339595" "48339595" "subst" "0.00326888" "00229" "CRX_000001" "g.48339595G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted unknown effect on function, present at significant fraction in Exome Variant Server" "Germline" "" "" "0" "" "" "g.47836338G>A" "" "VUS" ""
"0000059874" "1" "50" "19" "48342796" "48342796" "subst" "0.00672659" "00229" "CRX_000002" "g.48342796G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.47839539G>A" "" "VUS" ""
"0000170935" "0" "90" "19" "48338919" "48464817" "del" "0" "01244" "CRX_000004" "g.48338919_48464817del" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47835662_47961560del" "" "pathogenic" "ACMG"
"0000265015" "0" "10" "19" "48343243" "48343243" "subst" "0.00250534" "02330" "CRX_000008" "g.48343243C>T" "" "" "" "CRX(NM_000554.6):c.*19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47839986C>T" "" "benign" ""
"0000265016" "0" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "02330" "CRX_000006" "g.48339520C>T" "" "" "" "CRX(NM_000554.6):c.121C>T (p.R41W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47836263C>T" "" "likely pathogenic" ""
"0000265017" "0" "30" "19" "48342562" "48342562" "subst" "0.00188678" "02330" "CRX_000007" "g.48342562G>A" "" "" "" "CRX(NM_000554.6):c.253-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47839305G>A" "" "likely benign" ""
"0000274440" "0" "90" "19" "48339499" "48339499" "subst" "0" "01943" "CRX_000005" "g.48339499G>A" "" "" "" "CRX(NM_000554.5):c.101-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47836242G>A" "" "pathogenic" ""
"0000338275" "0" "30" "19" "48342562" "48342562" "subst" "0.00188678" "02327" "CRX_000007" "g.48342562G>A" "" "" "" "CRX(NM_000554.6):c.253-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47839305G>A" "" "likely benign" ""
"0000339028" "0" "50" "19" "48339526" "48339526" "subst" "0" "02327" "CRX_000010" "g.48339526C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47836269C>T" "" "VUS" ""
"0000341428" "0" "50" "19" "48337708" "48337708" "subst" "1.62441E-5" "02327" "CRX_000009" "g.48337708C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47834451C>T" "" "VUS" ""
"0000342869" "0" "90" "19" "48339520" "48339520" "subst" "8.12427E-6" "02327" "CRX_000006" "g.48339520C>T" "" "" "" "CRX(NM_000554.6):c.121C>T (p.R41W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47836263C>T" "" "pathogenic" ""
"0000342995" "0" "50" "19" "48339541" "48339541" "subst" "2.43653E-5" "02327" "CRX_000011" "g.48339541C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47836284C>T" "" "VUS" ""
"0000349966" "0" "90" "19" "48342897" "48342897" "subst" "0" "02327" "CRX_000012" "g.48342897T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47839640T>A" "" "pathogenic" ""
"0000477307" "0" "50" "19" "48337708" "48337708" "subst" "1.62441E-5" "02591" "CRX_000009" "g.48337708C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs762715327" "0" "" "" "g.47834451C>T" "" "VUS" ""
"0000477308" "0" "90" "19" "48339520" "48339520" "subst" "8.12427E-6" "02591" "CRX_000006" "g.48339520C>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs104894672" "0" "" "" "g.47836263C>T" "" "pathogenic" ""
"0000477309" "0" "50" "19" "48342664" "48342664" "subst" "0" "02591" "CRX_000015" "g.48342664G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47839407G>T" "" "VUS" ""
"0000477310" "0" "50" "19" "48342689" "48342689" "subst" "0.0126845" "02591" "CRX_000016" "g.48342689G>A" "8/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61748441" "0" "" "" "g.47839432G>A" "" "VUS" ""
"0000477311" "0" "50" "19" "48342784" "48342784" "subst" "6.95217E-5" "02591" "CRX_000017" "g.48342784A>G" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs763651232" "0" "" "" "g.47839527A>G" "" "VUS" ""
"0000477312" "0" "50" "19" "48342884" "48342884" "subst" "1.22439E-5" "02591" "CRX_000018" "g.48342884C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs758125850" "0" "" "" "g.47839627C>T" "" "VUS" ""
"0000477313" "0" "90" "19" "48343051" "48343051" "subst" "0" "02591" "CRX_000019" "g.48343051G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47839794G>T" "" "pathogenic" ""
"0000477314" "0" "50" "19" "48343085" "48343085" "subst" "4.06689E-6" "02591" "CRX_000020" "g.48343085C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs770584409" "0" "" "" "g.47839828C>T" "" "VUS" ""
"0000477315" "0" "50" "19" "48343221" "48343221" "subst" "1.24943E-5" "02591" "CRX_000021" "g.48343221G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236063" "0" "" "" "g.47839964G>C" "" "VUS" ""
"0000567876" "0" "30" "19" "48337728" "48337728" "subst" "0.000479161" "01943" "CRX_000022" "g.48337728C>G" "" "" "" "CRX(NM_000554.5):c.28C>G (p.H10D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47834471C>G" "" "likely benign" ""
"0000567877" "0" "30" "19" "48337737" "48337737" "subst" "2.84248E-5" "01804" "CRX_000023" "g.48337737G>C" "" "" "" "CRX(NM_000554.4):c.37G>C (p.(Val13Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47834480G>C" "" "likely benign" ""
"0000567878" "0" "30" "19" "48339595" "48339595" "subst" "0.00326888" "02330" "CRX_000001" "g.48339595G>A" "" "" "" "CRX(NM_000554.5):c.196G>A (p.V66I), CRX(NM_000554.6):c.196G>A (p.V66I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47836338G>A" "" "likely benign" ""
"0000567879" "0" "30" "19" "48339595" "48339595" "subst" "0.00326888" "01943" "CRX_000001" "g.48339595G>A" "" "" "" "CRX(NM_000554.5):c.196G>A (p.V66I), CRX(NM_000554.6):c.196G>A (p.V66I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47836338G>A" "" "likely benign" ""
"0000567880" "0" "10" "19" "48342687" "48342687" "subst" "4.07631E-6" "02330" "CRX_000024" "g.48342687G>A" "" "" "" "CRX(NM_000554.6):c.363G>A (p.A121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839430G>A" "" "benign" ""
"0000567881" "0" "50" "19" "48342716" "48342716" "del" "0" "01943" "CRX_000025" "g.48342716del" "" "" "" "CRX(NM_000554.5):c.392delT (p.V131Gfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839459del" "" "VUS" ""
"0000567882" "0" "30" "19" "48342873" "48342873" "subst" "0.000261425" "01943" "CRX_000026" "g.48342873G>A" "" "" "" "CRX(NM_000554.5):c.549G>A (p.G183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839616G>A" "" "likely benign" ""
"0000567883" "0" "50" "19" "48342875" "48342875" "subst" "0.000915152" "01943" "CRX_000027" "g.48342875C>T" "" "" "" "CRX(NM_000554.5):c.551C>T (p.P184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839618C>T" "" "VUS" ""
"0000567884" "0" "10" "19" "48343048" "48343048" "subst" "0.00118651" "02330" "CRX_000028" "g.48343048G>A" "" "" "" "CRX(NM_000554.6):c.724G>A (p.V242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839791G>A" "" "benign" ""
"0000604397" "1" "70" "19" "48339499" "48339499" "subst" "0" "03508" "CRX_000005" "g.48339499G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47836242G>A" "" "pathogenic (dominant)" ""
"0000604398" "2" "70" "19" "48339521" "48339521" "subst" "0" "03508" "CRX_000030" "g.48339521G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47836264G>A" "" "pathogenic (dominant)" ""
"0000604399" "0" "90" "19" "48342767" "48342767" "del" "0" "03508" "CRX_000029" "g.48342767del" "" "" "" "442delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47839510del" "" "pathogenic (dominant)" ""
"0000650019" "1" "50" "19" "48342749" "48342749" "subst" "0.000541893" "03575" "CRX_000031" "g.48342749A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs61748442}" "Germline" "" "rs61748442" "0" "" "" "g.47839492A>G" "" "VUS" ""
"0000650020" "1" "30" "19" "48345241" "48345241" "subst" "0" "03575" "CRX_000032" "g.48345241C>T" "74/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "74 heterozygous, no homozygous; {DB:CLININrs73038753}" "Germline" "" "rs73038753" "0" "" "" "g.47841984C>T" "" "likely benign" ""
"0000684403" "1" "70" "19" "48342932" "48342933" "del" "0" "00004" "CRX_000036" "g.48342932_48342933del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.47839675_47839676del" "" "likely pathogenic" ""
"0000684404" "0" "70" "19" "48342888" "48342888" "dup" "0" "00004" "CRX_000035" "g.48342888dup" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47839631dup" "" "likely pathogenic" ""
"0000684405" "0" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "00004" "CRX_000006" "g.48339520C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline/De novo (untested)" "" "rs104894672" "0" "" "" "g.47836263C>T" "" "likely pathogenic" ""
"0000684411" "0" "70" "19" "48339652" "48339652" "subst" "0" "00004" "CRX_000034" "g.48339652G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47836395G>A" "" "likely pathogenic" ""
"0000684524" "1" "70" "19" "48343033" "48343033" "del" "0" "00004" "CRX_000037" "g.48343033del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.709delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000685184" "0" "70" "19" "48339637" "48339637" "subst" "0" "00004" "CRX_000033" "g.48339637G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000692849" "0" "30" "19" "48342921" "48342921" "subst" "0.000610118" "01943" "CRX_000038" "g.48342921C>T" "" "" "" "CRX(NM_000554.5):c.597C>T (p.S199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000711689" "1" "70" "19" "48342782" "48342782" "del" "0" "00008" "CRX_000041" "g.48342782delC" "" "{PMID:Ziviello 2005:15994872}" "" "P153fs" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000711794" "1" "90" "19" "0" "0" "" "0" "00008" "NPHS1_000138" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:238A>C, GAG?GCG CRX Glu80Ala" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000711795" "1" "90" "19" "0" "0" "" "0" "00008" "NPHS1_000138" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:238A>C, GAG?GCG CRX Glu80Ala" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000711796" "1" "90" "19" "48342909" "48342909" "dup" "0" "00008" "CRX_000043" "g.48342909dup" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:585insC CRC Frameshift after Ala196" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000711803" "1" "90" "19" "48342762" "48342773" "del" "0" "00008" "CRX_000040" "g.48342762_48342773del" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:438-449del CRX Leu146-149del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000711823" "1" "30" "19" "48337728" "48337728" "subst" "0" "00008" "CRX_000039" "g.48337728C>T" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:28C>T (CAC?GAC) His10Asp" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" ""
"0000711824" "1" "30" "19" "48339595" "48339595" "subst" "0.00326888" "00008" "CRX_000001" "g.48339595G>A" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:196G>A (GTC?ATC) Val66Ile" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" ""
"0000711825" "1" "30" "19" "48342689" "48342689" "subst" "0.0126845" "00008" "CRX_000016" "g.48342689G>A" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:365G>A (GGC?GAC) Gly122Asp" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" ""
"0000711826" "1" "30" "19" "48342796" "48342796" "subst" "0.00672659" "00008" "CRX_000002" "g.48342796G>A" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:472G>A (GCC?ACC) Ala158Thr" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" ""
"0000711827" "1" "30" "19" "48342862" "48342862" "subst" "0" "00008" "CRX_000042" "g.48342862G>A" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:538G>A (GGG?GGA) Gly183Gly" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" ""
"0000711828" "1" "30" "19" "48342920" "48342920" "subst" "0" "00008" "CRX_000044" "g.48342920C>T" "" "{PMID:Sohocki 2001:11139241}" "" "AF024711:596C>T (TCC?TCT) Ser199Ser" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" ""
"0000713477" "0" "90" "19" "48342619" "48342619" "subst" "0" "00000" "CRX_000046" "g.48342619C>T" "" "{PMID:Carss 2017:28041643}" "" "19:48342619C>T ENST00000221996.7:c.295C>T (Gln99Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000713506" "0" "90" "19" "48342771" "48342772" "del" "0" "00000" "CRX_000047" "g.48342771_48342772del" "" "{PMID:Carss 2017:28041643}" "" "19:48342770CCT>C ENST00000221996.7:c.448_449delTC (Ser150ArgfsTer23)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000713618" "0" "90" "19" "48339518" "48339518" "subst" "1.21895E-5" "00000" "CRX_000045" "g.48339518G>A" "" "{PMID:Carss 2017:28041643}" "" "19:48339518G>A ENST00000221996.7:c.119G>A (Arg40Gln)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000714002" "1" "50" "19" "48342884" "48342884" "subst" "1.22439E-5" "00000" "CRX_000018" "g.48342884C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.47839627C>T" "" "VUS" ""
"0000727466" "0" "30" "19" "48343143" "48343143" "subst" "8.20546E-6" "01943" "CRX_000053" "g.48343143G>A" "" "" "" "CRX(NM_000554.5):c.819G>A (p.T273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000729753" "0" "70" "19" "48339517" "48339517" "subst" "0" "00000" "CRX_000048" "g.48339517C>T" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs749738655" "0" "" "" "g.47836260C>T" "" "likely pathogenic" ""
"0000730677" "1" "90" "19" "48342914" "48342914" "del" "0" "00000" "CRX_000051" "g.48342914del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.47839657del" "" "pathogenic (dominant)" ""
"0000730678" "1" "90" "19" "48339558" "48339558" "del" "0" "00000" "CRX_000049" "g.48339558del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.47836301del" "" "pathogenic (dominant)" ""
"0000730679" "1" "90" "19" "48342758" "48342758" "dup" "0" "00000" "CRX_000050" "g.48342758dup" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.47839501dup" "" "pathogenic (dominant)" ""
"0000730680" "1" "90" "19" "48342987" "48342987" "subst" "0" "00000" "CRX_000052" "g.48342987C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.47839730C>A" "" "pathogenic (dominant)" ""
"0000731019" "0" "50" "19" "48343048" "48343048" "subst" "0.00118651" "00000" "CRX_000028" "g.48343048G>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61748459" "0" "" "" "g.47839791G>A" "" "VUS" ""
"0000731319" "0" "90" "19" "48342767" "48342767" "del" "0" "00000" "CRX_000029" "g.48342767del" "" "{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}" "" "442delG" "" "De novo" "" "" "0" "" "" "g.47839510del" "" "pathogenic (dominant)" ""
"0000732640" "0" "90" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Jones 2017:28761320}" "" "del ex3-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000732642" "0" "90" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Jones 2017:28761320}" "" "del ex3-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000732653" "0" "90" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Jones 2017:28761320}" "" "del ex3-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000732654" "0" "90" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Jones 2017:28761320}" "" "del ex3-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000732816" "0" "70" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Stone 2017:28559085}" "" "del ex3-4" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000732858" "0" "70" "19" "48342985" "48342985" "del" "0" "00000" "CRX_000055" "g.48342985del" "" "{PMID:Stone 2017:28559085}" "" "661delT" "" "Germline" "" "" "0" "" "" "g.47839728del" "" "likely pathogenic" ""
"0000732866" "0" "70" "19" "48342895" "48342895" "del" "0" "00000" "CRX_000054" "g.48342895del" "" "{PMID:Stone 2017:28559085}" "" "571delT" "" "Germline" "" "" "0" "" "" "g.47839638del" "" "likely pathogenic" ""
"0000734338" "0" "70" "19" "48342689" "48342689" "subst" "0.0126845" "00000" "CRX_000016" "g.48342689G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.47839432G>A" "" "likely pathogenic" ""
"0000735614" "0" "90" "19" "48339604" "48339604" "subst" "4.06068E-6" "00000" "CRX_000056" "g.48339604C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.47836347C>T" "" "pathogenic" ""
"0000735615" "0" "90" "19" "48339604" "48339604" "subst" "4.06068E-6" "00000" "CRX_000056" "g.48339604C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.47836347C>T" "" "pathogenic" ""
"0000735737" "0" "90" "19" "48339604" "48339604" "subst" "4.06068E-6" "00000" "CRX_000056" "g.48339604C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.47836347C>T" "" "pathogenic" ""
"0000735739" "0" "90" "19" "48339604" "48339604" "subst" "4.06068E-6" "00000" "CRX_000056" "g.48339604C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.47836347C>T" "" "pathogenic" ""
"0000735821" "0" "70" "19" "48343109" "48343109" "del" "0" "00000" "CRX_000061" "g.48343109del" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47839852del" "" "likely pathogenic" ""
"0000735927" "0" "70" "19" "0" "0" "" "0" "02485" "NPHS1_000138" "g.?" "" "{PMID:Bravo-Gil 2017:28157192}" "" "del ex3-4: c.(100+1_101-1)_(*1097_?)del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000736075" "0" "70" "19" "48342987" "48342987" "subst" "0" "00000" "CRX_000059" "g.48342987C>G" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.47839730C>G" "" "likely pathogenic" ""
"0000736081" "0" "70" "19" "48343034" "48343034" "del" "0" "00000" "CRX_000060" "g.48343034del" "" "{PMID:Huang 2018:29641573}" "" "c.710_710delT" "" "Germline" "" "" "0" "" "" "g.47839777del" "" "likely pathogenic" ""
"0000736208" "1" "90" "19" "48342839" "48342839" "del" "0" "00000" "CRX_000058" "g.48342839del" "" "{PMID:Bernardis 2016:28127548}" "" "c.514delC" "" "Germline" "" "" "0" "" "" "g.47839582del" "" "pathogenic" ""
"0000736402" "1" "90" "19" "48339521" "48339521" "subst" "0" "00008" "CRX_000030" "g.48339521G>A" "" "{PMID:Sullivan 2006:16799052}" "" "122G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000736403" "1" "90" "19" "48342760" "48342771" "del" "0" "00008" "CRX_000057" "g.48342760_48342771del" "" "{PMID:Sullivan 2006:16799052}" "" "436_447del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000759849" "1" "70" "19" "48342900" "48342900" "del" "0" "00000" "CRX_000064" "g.48342900del" "" "{PMID:Wang 2016:27422788}" "" "c.575delC p.A192fs" "" "Germline" "" "" "0" "" "" "g.47839643del" "" "likely pathogenic" ""
"0000760165" "0" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "00000" "CRX_000006" "g.48339520C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.47836263C>T" "" "likely pathogenic" ""
"0000760207" "0" "70" "19" "48342894" "48342894" "del" "0" "00000" "CRX_000063" "g.48342894del" "" "{PMID:Ellingford 2016:27208204}" "" "566delC" "" "Germline" "" "" "0" "" "" "g.47839637del" "" "likely pathogenic" ""
"0000760360" "0" "50" "19" "48342929" "48342929" "del" "0" "00000" "CRX_000065" "g.48342929del" "" "{PMID:Ellingford 2016:27208204}" "" "605delG" "" "Germline" "" "" "0" "" "" "g.47839672del" "" "VUS" ""
"0000760366" "0" "50" "19" "48337801" "48337801" "subst" "0" "00000" "CRX_000062" "g.48337801G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.47834544G>C" "" "VUS" ""
"0000760669" "1" "90" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Bravo-Gil 2016:27032803}" "" "(100+1_101-1)_(*1097_?)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000763869" "1" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "00006" "CRX_000006" "g.48339520C>T" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.47836263C>T" "" "likely pathogenic (dominant)" ""
"0000763870" "1" "90" "19" "48339638" "48339638" "subst" "0" "00006" "CRX_000066" "g.48339638A>G" "" "{PMID:Huang 2012:22960069}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.47836381A>G" "" "pathogenic (dominant)" ""
"0000763871" "1" "70" "19" "48339526" "48339526" "subst" "0" "00006" "CRX_000010" "g.48339526C>T" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.47836269C>T" "" "likely pathogenic (dominant)" ""
"0000763961" "1" "90" "19" "48342686" "48342686" "subst" "1.63095E-5" "00006" "CRX_000069" "g.48342686C>T" "" "{PMID:Huang 2012:22960069}" "" "" "" "Germline" "" "" "0" "" "" "g.47839429C>T" "" "pathogenic (dominant)" ""
"0000763962" "1" "90" "19" "48342659" "48342659" "subst" "8.98186E-5" "00006" "CRX_000068" "g.48342659C>T" "" "{PMID:Huang 2012:22960069}" "" "" "" "Germline" "" "" "0" "" "" "g.47839402C>T" "" "pathogenic (dominant)" ""
"0000764029" "1" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "00000" "CRX_000006" "g.48339520C>T" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "rs104894672" "0" "" "" "g.47836263C>T" "" "likely pathogenic" ""
"0000764034" "1" "70" "19" "48342609" "48342609" "del" "0" "00000" "CRX_000067" "g.48342609del" "" "{PMID:Oishi 2016:26957898}" "" "284delG" "" "Germline" "" "" "0" "" "" "g.47839352del" "" "likely pathogenic" ""
"0000764887" "1" "70" "19" "48342826" "48342826" "del" "0" "00000" "CRX_000070" "g.48342826del" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.47839569del" "" "likely pathogenic (dominant)" ""
"0000764893" "1" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.47836380G>A" "" "likely pathogenic (dominant)" ""
"0000765475" "1" "70" "19" "48343008" "48343008" "subst" "8.12539E-6" "00000" "CRX_000073" "g.48343008G>C" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.47839751G>C" "" "likely pathogenic" ""
"0000765559" "0" "90" "19" "48343006" "48343006" "subst" "0" "00000" "CRX_000072" "g.48343006C>T" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.47839749C>T" "" "pathogenic" ""
"0000765751" "0" "70" "19" "48343019" "48343019" "del" "0" "00000" "CRX_000074" "g.48343019del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.47839762del" "" "likely pathogenic" ""
"0000765764" "0" "70" "19" "48342598" "48342598" "subst" "0" "00000" "CRX_000071" "g.48342598G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.47839341G>A" "" "likely pathogenic" ""
"0000765844" "0" "70" "19" "48342749" "48342749" "subst" "0.000541893" "00000" "CRX_000031" "g.48342749A>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.47839492A>G" "" "likely pathogenic" ""
"0000765860" "0" "70" "19" "48342749" "48342749" "subst" "0.000541893" "00000" "CRX_000031" "g.48342749A>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.47839492A>G" "" "likely pathogenic" ""
"0000783787" "0" "90" "19" "48342895" "48342895" "del" "0" "00000" "CRX_000054" "g.48342895del" "" "{PMID:Wang 2015:26047050}" "" "571del" "" "Germline" "" "" "0" "" "" "g.47839638del" "" "pathogenic" ""
"0000783825" "0" "90" "19" "48342745" "48342745" "del" "0" "00000" "CRX_000075" "g.48342745del" "" "{PMID:Wang 2015:26047050}" "" "421delT" "" "Germline" "" "" "0" "" "" "g.47839488del" "" "pathogenic" ""
"0000784155" "0" "50" "19" "48342659" "48342659" "subst" "8.98186E-5" "00000" "CRX_000068" "g.48342659C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs61748439" "0" "" "" "g.47839402C>T" "" "VUS" ""
"0000784189" "0" "90" "19" "48342865" "48342865" "del" "0" "00000" "CRX_000076" "g.48342865del" "" "{PMID:Xu 2014:24938718}" "" "c.541delG" "" "Germline" "" "" "0" "" "" "g.47839608del" "" "pathogenic (dominant)" ""
"0000784541" "0" "50" "19" "48342659" "48342659" "subst" "8.98186E-5" "00000" "CRX_000068" "g.48342659C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs61748439" "0" "" "" "g.47839402C>T" "" "VUS" ""
"0000785383" "3" "90" "19" "48339604" "48339604" "subst" "4.06068E-6" "00000" "CRX_000056" "g.48339604C>T" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.47836347C>T" "" "pathogenic (recessive)" ""
"0000785523" "0" "90" "19" "48342914" "48342914" "dup" "0" "00000" "CRX_000077" "g.48342914dup" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.586_587insC" "" "Germline" "" "" "0" "" "" "g.47839657dup" "" "pathogenic (dominant)" ""
"0000786365" "1" "50" "19" "48339610" "48339610" "subst" "0" "00000" "CRX_000078" "g.48339610G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.47836353G>A" "" "VUS" ""
"0000787687" "1" "70" "19" "48343114" "48343114" "subst" "2.85425E-5" "00000" "CRX_000080" "g.48343114G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47839857G>A" "" "likely pathogenic" ""
"0000787756" "0" "90" "19" "48342773" "48342773" "subst" "0" "00006" "CRX_000079" "g.48342773C>G" "" "{PMID:Duncker 2015:25283059}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000787757" "0" "90" "19" "48342773" "48342773" "subst" "0" "00006" "CRX_000079" "g.48342773C>G" "" "{PMID:Duncker 2015:25283059}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000788078" "3" "90" "19" "48339592" "48339592" "subst" "4.06068E-6" "00000" "CRX_000081" "g.48339592G>C" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.47836335G>C" "" "pathogenic" ""
"0000788079" "1" "90" "19" "48339592" "48339592" "subst" "4.06068E-6" "00000" "CRX_000081" "g.48339592G>C" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.47836335G>C" "" "pathogenic" ""
"0000788136" "1" "70" "19" "48343221" "48343221" "subst" "1.24943E-5" "00000" "CRX_000021" "g.48343221G>C" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.47839964G>C" "" "likely pathogenic" ""
"0000788602" "1" "50" "19" "48342931" "48342931" "subst" "0" "00000" "CRX_000082" "g.48342931T>C" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.47839674T>C" "" "VUS" ""
"0000789695" "0" "55" "19" "48342689" "48342689" "subst" "0.0126845" "00000" "CRX_000016" "g.48342689G>A" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000789697" "3" "90" "19" "48339592" "48339592" "subst" "4.06068E-6" "00000" "CRX_000081" "g.48339592G>C" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000789703" "0" "90" "19" "48342779" "48342779" "subst" "0" "00000" "CRX_000083" "g.48342779C>A" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000789706" "0" "55" "19" "48342689" "48342689" "subst" "0.0126845" "00000" "CRX_000016" "g.48342689G>A" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000789853" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "c.238G>A" "Check also: Sankila 2000" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000789854" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "c.238G>A" "Check also: Sankila 2000" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000789855" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "c.238G>A" "Check also: Sankila 2000" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000789856" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "c.238G>A" "Check also: Sankila 2000" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790100" "0" "30" "19" "48342784" "48342784" "subst" "6.95217E-5" "00000" "CRX_000017" "g.48342784A>G" "" "{PMID:Seong-2008:18682808}" "" "c.460A>G(T154A)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000790326" "0" "50" "19" "48339595" "48339595" "subst" "0.00326888" "00000" "CRX_000001" "g.48339595G>A" "" "{PMID:Vallespin 2007:18055816}" "" "c.196G>A (p.Val66Ile)" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000790327" "0" "50" "19" "48342749" "48342749" "subst" "0.000541893" "00000" "CRX_000031" "g.48342749A>G" "" "{PMID:Vallespin 2007:18055816}" "" "c.425A>G (p.Tyr142Cys)" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000790555" "0" "50" "19" "48342689" "48342689" "subst" "0.0126845" "00000" "CRX_000016" "g.48342689G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs61748441" "0" "" "" "g.47839432G>A" "" "VUS" ""
"0000790594" "0" "50" "19" "48339595" "48339595" "subst" "0.00326888" "00000" "CRX_000001" "g.48339595G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs61748438" "0" "" "" "g.47836338G>A" "" "VUS" ""
"0000791423" "0" "70" "19" "48339521" "48339521" "subst" "0" "00000" "CRX_000030" "g.48339521G>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.47836264G>A" "" "likely pathogenic" ""
"0000791424" "0" "70" "19" "48342753" "48342753" "del" "0" "00000" "CRX_000088" "g.48342753del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.47839496del" "" "likely pathogenic" ""
"0000791425" "0" "70" "19" "48342914" "48342914" "dup" "0" "00000" "CRX_000077" "g.48342914dup" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.47839657dup" "" "likely pathogenic" ""
"0000791562" "0" "70" "19" "48339216" "48345529" "del" "0" "00000" "CRX_000084" "g.48339216_48345529del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.47835959_47842272del" "" "likely pathogenic" ""
"0000791563" "0" "70" "19" "48339345" "48347355" "del" "0" "00000" "CRX_000085" "g.48339345_48347355del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.47836088_47844098del" "" "likely pathogenic" ""
"0000791581" "0" "90" "19" "48339523" "48339523" "subst" "0" "00000" "CRX_000086" "g.48339523G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.124G>A" "heterozygous, causative variant" "Germline" "no" "" "0" "" "" "g.47836266G>A" "" "pathogenic" "ACMG"
"0000791592" "21" "50" "19" "48339624" "48339624" "subst" "0" "00000" "CRX_000087" "g.48339624G>C" "" "{PMID:Hosono 2018:29844330}" "" "c.225G>C" "heterozygous variant, probably not causative in the patient" "Germline" "yes" "" "0" "" "" "g.47836367G>C" "" "VUS" "ACMG"
"0000792173" "0" "90" "19" "48339523" "48339523" "subst" "0" "00000" "CRX_000086" "g.48339523G>A" "1/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "124G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792174" "0" "90" "19" "48342865" "48342865" "del" "0" "00000" "CRX_000089" "g.48342865delG" "1/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "541delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792175" "0" "90" "19" "48342782" "48342782" "del" "0" "00000" "CRX_000041" "g.48342782delC" "1/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "458delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000793801" "0" "70" "19" "48342884" "48342884" "subst" "1.22439E-5" "00000" "CRX_000018" "g.48342884C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.560C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000794007" "0" "90" "19" "48339521" "48339521" "subst" "0" "00000" "CRX_000030" "g.48339521G>A" "" "{PMID:Blanco-Kelly-2012:22736939}" "" "p.Arg41Gln" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000794258" "0" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "03508" "CRX_000006" "g.48339520C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794309" "0" "90" "19" "48342833" "48342833" "del" "0" "00000" "CRX_000090" "g.48342833del" "" "{PMID:Wang 2018:30029497}" "" "NM_000554.5:c.509del, NP_000545.1:p.(Pro170LeufsTer17), NC_000019.9:g.48342833del" "" "Germline" "?" "" "0" "" "" "g.47839576del" "" "pathogenic" "ACMG"
"0000794931" "0" "30" "19" "48342689" "48342689" "subst" "0.0126845" "00000" "CRX_000016" "g.48342689G>A" "3/336 cases; 3/360 controls" "{PMID:Kim-2012:23049240}" "" "c.365G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000795969" "0" "70" "19" "48342897" "48342897" "subst" "0" "00000" "CRX_000012" "g.48342897T>A" "0/384 controls" "{PMID:Chen-2013:23661368}" "" "c.[573T>A];[=]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796137" "0" "70" "19" "48339595" "48339595" "subst" "0.00326888" "00000" "CRX_000001" "g.48339595G>A" "" "{PMID:Verma-2013:24066033}" "" "c.196G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000796707" "0" "70" "19" "48339521" "48339521" "subst" "0" "00000" "CRX_000030" "g.48339521G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.122G>A" "" "Germline" "" "rs61748436" "0" "" "" "" "" "likely pathogenic" ""
"0000796709" "0" "70" "19" "48342749" "48342749" "subst" "0.000541893" "00000" "CRX_000031" "g.48342749A>G" "" "{PMID:Eisenberger-2013:24265693}" "" "c.425A>G" "" "Germline" "" "rs61748442" "0" "" "" "" "" "likely pathogenic" ""
"0000796811" "0" "90" "19" "48343223" "48343223" "subst" "0" "00000" "CRX_000093" "g.48343223A>G" "" "{PMID:Eisenberger-2013:24265693}" "" "c.899A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796812" "0" "90" "19" "48342576" "48346588" "del" "0" "00000" "CRX_000091" "g.48342576_48346588del" "" "{PMID:Eisenberger-2013:24265693}" "" "deletion of exon 4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796848" "0" "70" "19" "48339595" "48339595" "subst" "0.00326888" "00000" "CRX_000001" "g.48339595G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.196G>A" "" "Germline" "" "rs61748438" "0" "" "" "" "" "likely pathogenic" ""
"0000796890" "0" "90" "19" "48342755" "48342767" "del" "0" "00000" "CRX_000092" "g.48342755_48342767del13" "" "{PMID:Wang-2014:24154662}" "" "c.431_443del13" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000797121" "0" "90" "19" "48339521" "48339521" "subst" "0" "00000" "CRX_000030" "g.48339521G>A" "" "{PMID:Birtel 2018:30543658}" "" "c.122G>A, p.Arg41Gln" "Heterozygous" "Germline" "yes" "rs61748436" "0" "" "" "g.47836264G>A" "" "pathogenic" "ACMG"
"0000797602" "0" "70" "19" "48342705" "48342705" "dup" "0" "00000" "CRX_000094" "g.48342705dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.381dup, p.(Ser128Leufs*46)" "" "Germline" "?" "" "0" "" "" "g.47839448dup" "" "likely pathogenic" "ACMG"
"0000797603" "0" "70" "19" "48343151" "48343151" "subst" "0" "00000" "CRX_000095" "g.48343151G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.827G>A, p.(Trp276*)" "" "Germline" "?" "" "0" "" "" "g.47839894G>A" "" "likely pathogenic" "ACMG"
"0000797606" "0" "70" "19" "48339526" "48339526" "subst" "0" "00000" "CRX_000010" "g.48339526C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.127C>T, p.(Arg43Cys)" "" "Germline" "?" "" "0" "" "" "g.47836269C>T" "" "likely pathogenic" "ACMG"
"0000797607" "0" "70" "19" "48343008" "48343008" "subst" "8.12539E-6" "00000" "CRX_000073" "g.48343008G>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.684G>C, p.(Gln228His)" "" "Germline" "?" "" "0" "" "" "g.47839751G>C" "" "likely pathogenic" "ACMG"
"0000797996" "0" "50" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.(?_-1)_(*1_?)dup, CACNA1F c.2237A>C, p.(Asn746Thr)" "" "Germline" "?" "" "0" "" "" "g.?" "" "VUS" "ACMG"
"0000797998" "0" "50" "19" "48342749" "48342749" "subst" "0.000541893" "00000" "CRX_000031" "g.48342749A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.425A>G, p.(Tyr142Cys), ABCA4 c.3808G>T, p.(Glu1270*)" "" "Germline" "?" "" "0" "" "" "g.47839492A>G" "" "VUS" "ACMG"
"0000797999" "0" "50" "19" "48337728" "48337728" "subst" "0.000479161" "00000" "CRX_000022" "g.48337728C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.28C>G, p.(His10Asp)" "" "Germline" "?" "" "0" "" "" "g.47834471C>G" "" "VUS" "ACMG"
"0000808966" "0" "70" "19" "48342804" "48342805" "del" "0" "02330" "CRX_000096" "g.48342804_48342805del" "" "" "" "CRX(NM_000554.6):c.480_481delGT (p.S161Hfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000808967" "0" "50" "19" "48343019" "48343019" "subst" "8.12519E-6" "02330" "CRX_000097" "g.48343019C>T" "" "" "" "CRX(NM_000554.6):c.695C>T (p.P232L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000811888" "0" "70" "17" "48342592" "48342592" "subst" "0" "00000" "CRX_000001" "g.48342592C>T" "" "{PMID:Gao 2019:31054281}" "" "c.268C>T, p.Arg90Trp" "heterozygous" "Germline" "?" "" "0" "" "" "g.47839335C>T" "" "likely pathogenic" ""
"0000811889" "0" "70" "2" "48342592" "48342592" "subst" "0" "00000" "CRX_000001" "g.48342592C>T" "" "{PMID:Gao 2019:31054281}" "" "c.268C>T, p.Arg90Trp" "heterozygous" "Germline" "?" "" "0" "" "" "g.47839335C>T" "" "likely pathogenic" ""
"0000811938" "0" "70" "19" "48339610" "48339610" "subst" "0" "00000" "CRX_000078" "g.48339610G>A" "" "{PMID:Hariri 2018:31047384}" "" "p.Glu71Lys:c.211G/A (heterozygous, autosomal dominant)" "" "Germline" "?" "" "0" "" "" "g.47836353G>A" "" "likely pathogenic" ""
"0000811951" "0" "90" "19" "48337802" "48337802" "subst" "0" "03840" "CRX_000098" "g.48337802T>C" "" "{PMID:Nasser 2019:30945053}" "" "c.100+2T>C, p.?" "heterozygous" "Germline" "" "" "0" "" "" "g.47834545T>C" "" "pathogenic" "ACMG"
"0000811954" "0" "50" "19" "48342749" "48342749" "subst" "0.000541893" "03840" "CRX_000031" "g.48342749A>G" "" "{PMID:Nasser 2019:30945053}" "" "c.425A>G, p.Y142C" "heterozygous" "Germline" "" "" "0" "" "" "g.47839492A>G" "" "VUS" "ACMG"
"0000811955" "0" "90" "19" "48342728" "48342728" "del" "0" "03840" "CRX_000102" "g.48342728del" "" "{PMID:Nasser 2019:30945053}" "" "c.404del, p.P135Lfs*52" "heterozygous" "Germline" "" "" "0" "" "" "g.47839471del" "" "pathogenic" "ACMG"
"0000811959" "0" "70" "19" "48342586" "48342586" "subst" "0" "03840" "CRX_000101" "g.48342586A>G" "" "{PMID:Wolock 2019:30926958}" "" "c.262A>G, r.(?)" "different transcript, ENST00000221996: 70: heterozygous" "Germline" "" "" "0" "" "" "g.47839329A>G" "" "likely pathogenic" ""
"0000811961" "0" "70" "19" "48342592" "48342592" "subst" "0" "03840" "CRX_000001" "g.48342592C>T" "" "{PMID:Wolock 2019:30926958}" "" "c.268C>T, r.(?)" "different transcript, ENST00000221996: 70: heterozygous" "Germline" "" "" "0" "" "" "g.47839335C>T" "" "likely pathogenic" ""
"0000811966" "0" "70" "19" "48342582" "48342582" "subst" "0" "03840" "CRX_000100" "g.48342582G>T" "" "{PMID:Wolock 2019:30926958}" "" "c.258G>T, r.(?)" "different transcript, ENST00000221996: 70: heterozygous" "Germline" "" "" "0" "" "" "g.47839325G>T" "" "likely pathogenic" ""
"0000811969" "0" "70" "19" "48339605" "48339605" "subst" "4.06062E-6" "03840" "CRX_000099" "g.48339605G>A" "" "{PMID:Wolock 2019:30926958}" "" "c.206G>A, r.(?)" "different transcript, ENST00000221996: 70: heterozygous" "Germline" "" "" "0" "" "" "g.47836348G>A" "" "likely pathogenic" ""
"0000812675" "0" "70" "19" "48342897" "48342897" "subst" "0" "00000" "CRX_000103" "g.48342897T>G" "" "{PMID:Wang 2019:31106028}" "" "c.573T>G, p.(Tyr191*)" "heterozygous" "Germline" "?" "" "0" "" "" "g.47839640T>G" "" "likely pathogenic" ""
"0000812776" "0" "50" "19" "48343114" "48343114" "subst" "2.85425E-5" "00000" "CRX_000080" "g.48343114G>A" "" "{PMID:Wang 2019:31106028}" "" "c.790G>A, p.(Val264Met)" "heterozygous" "Germline" "?" "" "0" "" "" "g.47839857G>A" "" "VUS" ""
"0000813637" "0" "90" "19" "48342804" "48342805" "del" "0" "00000" "CRX_000096" "g.48342804_48342805del" "" "{PMID:Xu 2020:31630094}" "" "CRX NM_000554: g.20102_20103delGT, c.480_481delGT, p.S161Hfs*12" "" "Unknown" "?" "" "0" "" "" "g.47839547_47839548del" "" "pathogenic" "ACMG"
"0000813647" "1" "90" "19" "48342987" "48342987" "subst" "0" "00000" "CRX_000059" "g.48342987C>G" "" "{PMID:Xu 2020:31630094}" "" "CRX NM_000554: g.20285C>G, c.663C>G, p.Y221X" "" "Germline" "yes" "" "0" "" "" "g.47839730C>G" "" "pathogenic" "ACMG"
"0000813689" "1" "90" "19" "48343106" "48343106" "del" "0" "00000" "CRX_000106" "g.48343106del" "" "{PMID:Xu 2020:31630094}" "" "CRX NM_000554: g.20404delA, c.782delA, p.X300Rext70" "error in annotation: in this transcript c.782del does no cause an extension, but rather a premature termination codon" "Germline" "yes" "" "0" "" "" "g.47839849del" "" "pathogenic" "ACMG"
"0000813703" "1" "90" "19" "48342869" "48342869" "subst" "0" "00000" "CRX_000105" "g.48342869C>G" "" "{PMID:Xu 2020:31630094}" "" "CRX NM_000554: g.20167C>G, c.545C>G, p.S182X" "" "Germline" "yes" "" "0" "" "" "g.47839612C>G" "" "pathogenic" "ACMG"
"0000813712" "1" "90" "19" "48339523" "48339523" "subst" "0" "00000" "CRX_000086" "g.48339523G>A" "" "{PMID:Xu 2020:31630094}" "" "CRX NM_000554: g.16821G>A, c.124G>A, p.E42K" "" "Germline" "yes" "" "0" "" "" "g.47836266G>A" "" "pathogenic" "ACMG"
"0000813724" "1" "90" "19" "48342824" "48342825" "del" "0" "00000" "CRX_000104" "g.48342824_48342825del" "" "{PMID:Xu 2020:31630094}" "" "CRX NM_000554: g.20122_20123delCA, c.500_501delCA, p.S167*" "" "Germline" "yes" "" "0" "" "" "g.47839567_47839568del" "" "pathogenic" "ACMG"
"0000815070" "0" "90" "19" "0" "0" "" "0" "00000" "NPHS1_000138" "g.?" "" "{PMID:Shanks 2013:22968130}" "" "258X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000815361" "0" "50" "19" "48342749" "48342749" "subst" "0.000541893" "00000" "CRX_000031" "g.48342749A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CRX:NM_000554 c.A425G, p.Y142C" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.47839492A>G" "" "VUS" "ACMG"
"0000815558" "0" "50" "19" "48342749" "48342749" "subst" "0.000541893" "00000" "CRX_000031" "g.48342749A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CRX:NM_000554 c.A425G, p.Y142C" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.47839492A>G" "" "VUS" "ACMG"
"0000816289" "0" "50" "19" "48337416" "48343898" "del" "0" "00000" "NPHS1_000138" "g.48337416_48343898del" "" "{PMID:Zampaglione 2020:32037395}" "" "CRX chr19:48337416_48343898del" "het deletion of all coding exons (2-4), gene can lead to dominant RP or ar LCA, unsolved" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000817489" "0" "50" "19" "48339520" "48339520" "subst" "8.12427E-6" "00000" "CRX_000006" "g.48339520C>T" "" "{PMID:Matsui 2015:26393467}" "" "p.R41W" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000818418" "1" "90" "19" "48339499" "48339499" "subst" "0" "00000" "CRX_000005" "g.48339499G>A" "" "{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}" "" "c.101-1G>A:p.?" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.47836242G>A" "" "pathogenic (recessive)" "ACMG"
"0000818419" "2" "90" "19" "48339521" "48339521" "subst" "0" "00000" "CRX_000030" "g.48339521G>A" "" "{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}" "" "" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.47836264G>A" "" "pathogenic (recessive)" "ACMG"
"0000818420" "0" "90" "19" "48342767" "48342767" "del" "0" "00000" "CRX_000029" "g.48342767del" "" "{PMID:Surl 2020:32165824}" "" "c.443del:p.(Gly148Alafs*39)" "heterozygous" "Germline" "?" "" "0" "" "" "g.47839510del" "" "pathogenic (dominant)" "ACMG"
"0000819711" "1" "70" "19" "48342728" "48342728" "del" "0" "00000" "CRX_000102" "g.48342728del" "" "{PMID:Weisschuh 2020:32531858}" "" "CRX, variant 1: c.404del/p.P135Lfs*52" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.47839471del" "" "likely pathogenic" ""
"0000819712" "1" "70" "19" "48342728" "48342728" "del" "0" "00000" "CRX_000102" "g.48342728del" "" "{PMID:Weisschuh 2020:32531858}" "" "CRX, variant 1: c.404del/p.P135Lfs*52" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.47839471del" "" "likely pathogenic" ""
"0000819757" "1" "70" "19" "48339605" "48339605" "subst" "4.06062E-6" "00000" "CRX_000099" "g.48339605G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CRX, variant 1: c.206G>A/p.R69H, variant 2: c.206G>A/p.R69H" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.47836348G>A" "" "likely pathogenic" ""
"0000820083" "1" "70" "19" "48337802" "48337802" "subst" "0" "00000" "CRX_000098" "g.48337802T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CRX, variant 1: c.100+2T>C/p.?" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.47834545T>C" "" "likely pathogenic" ""
"0000820200" "1" "70" "19" "48342616" "48342616" "subst" "0" "00000" "CRX_000107" "g.48342616C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CRX, variant 1: c.292C>T/p.R98*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.47839359C>T" "" "likely pathogenic" ""
"0000820247" "1" "70" "19" "48342728" "48342728" "del" "0" "00000" "CRX_000102" "g.48342728del" "" "{PMID:Weisschuh 2020:32531858}" "" "CRX, variant 1: c.404del/p.P135Lfs*52" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.47839471del" "" "likely pathogenic" ""
"0000820325" "1" "70" "19" "48342619" "48342619" "subst" "0" "00000" "CRX_000046" "g.48342619C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CRX, variant 1: c.295C>T/p.Q99*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.47839362C>T" "" "likely pathogenic" ""
"0000821236" "0" "70" "19" "48342619" "48342619" "subst" "0" "00000" "CRX_000046" "g.48342619C>T" "" "{PMID:Turro 2020:32581362}" "" "CRX c.295C>T, p.Gln99Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47839362C>T" "" "likely pathogenic" ""
"0000821237" "0" "70" "19" "48342772" "48342773" "del" "0" "00000" "CRX_000108" "g.48342772_48342773del" "" "{PMID:Turro 2020:32581362}" "" "CRX c.448_449delTC, p.Ser150ArgfsTer23" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47839515_47839516del" "" "likely pathogenic" ""
"0000821238" "0" "70" "19" "48339518" "48339518" "subst" "1.21895E-5" "00000" "CRX_000045" "g.48339518G>A" "" "{PMID:Turro 2020:32581362}" "" "CRX c.119G>A, p.Arg40Gln" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47836261G>A" "" "likely pathogenic" ""
"0000822382" "0" "70" "19" "48339517" "48339517" "subst" "0" "00000" "CRX_000048" "g.48339517C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.118C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822689" "0" "70" "19" "48342914" "48342914" "del" "0" "00000" "CRX_000051" "g.48342914del" "" "{PMID:Gliem 2020:32646556}" "" "CRX c.590del, p.Pro197Argfs*22" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47839657del" "" "likely pathogenic" ""
"0000822690" "0" "70" "19" "48342758" "48342758" "dup" "0" "00000" "CRX_000050" "g.48342758dup" "" "{PMID:Gliem 2020:32646556}" "" "CRX c.434dup, p.Leu146Serfs*28" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47839501dup" "" "likely pathogenic" ""
"0000822691" "0" "70" "19" "48339558" "48339558" "del" "0" "00000" "CRX_000049" "g.48339558del" "" "{PMID:Gliem 2020:32646556}" "" "CRX c.159del, p.Glu53Aspfs*22" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47836301del" "" "likely pathogenic" ""
"0000823252" "0" "90" "19" "48342858" "48342858" "del" "0" "00000" "CRX_000109" "g.48342858del" "" "{PMID:Hull 2020:32856788}" "" "CRX nucleotide 1, protein 1:c.534delG , p.Leu179Trpfs*8 , de novo" "heterozygous, ACMG classified, novel (Table 2)" "De novo" "?" "" "0" "" "" "g.47839601del" "" "pathogenic" "ACMG"
"0000823350" "0" "70" "19" "48342824" "48342825" "del" "0" "00000" "CRX_000104" "g.48342824_48342825del" "" "{PMID:Sallum 2020:32865313}" "" "CRX c.500_501deICA; p.Ser167Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47839567_47839568del" "" "likely pathogenic" "ACMG"
"0000824397" "0" "90" "19" "48342769" "48342791" "del" "0" "00000" "CRX_000111" "g.48342769_48342791del" "" "{PMID:Xiao-2021:33598457}" "" "CRX c.441_463del23, p.(P149Sfs*17)" "error in annotation, c.441_463del automapped to c.445_467del" "Unknown" "yes" "" "0" "" "" "g.47839512_47839534del" "" "pathogenic" "ACMG"
"0000824706" "0" "50" "19" "48342640" "48342640" "subst" "0" "00000" "CRX_000110" "g.48342640C>T" "" "{PMID:Ma 2021:33691693}" "" "CRX c.C316T, p.Q106X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.47839383C>T" "" "VUS" "ACMG"
"0000824711" "0" "30" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Ma 2021:33691693}" "" "CRX c.G238A, p.E80K" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.47836380G>A" "" "likely benign" "ACMG"
"0000825787" "0" "70" "19" "48339526" "48339526" "subst" "0" "00000" "CRX_000010" "g.48339526C>T" "" "{PMID:Liu-2020:33090715}" "" "c.127C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825788" "0" "70" "19" "48339605" "48339605" "subst" "4.06062E-6" "00000" "CRX_000099" "g.48339605G>A" "" "{PMID:Liu-2020:33090715}" "" "c.206G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825909" "0" "70" "19" "48342587" "48342587" "subst" "0" "00000" "CRX_000112" "g.48342587A>T" "" "{PMID:Liu-2020:33090715}" "" "c.263A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000829468" "0" "70" "19" "48342895" "48342895" "del" "0" "00000" "CRX_000054" "g.48342895del" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.571delT (p.Tyr191fs*2)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000829697" "1" "70" "19" "48342972" "48342972" "del" "0" "00006" "CRX_000113" "g.48342972del" "" "{PMID:Ellingford 2016:26872967}" "" "c.648delC" "" "Germline" "" "" "0" "" "" "g.47839715del" "" "likely pathogenic" ""
"0000841435" "1" "90" "19" "48342782" "48342782" "del" "0" "00006" "CRX_000041" "g.48342782del" "" "{PMID:Aldahmesh 2009:19956407}" "" "458delC" "" "Germline/De novo (untested)" "" "" "0" "" "" ".47839525del" "" "pathogenic (dominant)" ""
"0000843879" "0" "70" "19" "48343090" "48343090" "subst" "0" "00000" "CRX_000118" "g.48343090C>T" "" "{PMID:Griffith 2017:28945142}" "" "CRX c.766C>T; p.Gln256Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47839833C>T" "" "likely pathogenic" ""
"0000843880" "0" "70" "19" "48343090" "48343090" "subst" "0" "00000" "CRX_000118" "g.48343090C>T" "" "{PMID:Griffith 2017:28945142}" "" "CRX c.766C>T; p.Gln256Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47839833C>T" "" "likely pathogenic" ""
"0000843882" "21" "70" "19" "48342862" "48342862" "dup" "0" "00000" "CRX_000117" "g.48342862dup" "" "{PMID:Wang 2018:30095615}" "" "CRX c.538dupG:p.Val180fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839605dup" "" "likely pathogenic" ""
"0000843883" "21" "70" "19" "48342862" "48342862" "dup" "0" "00000" "CRX_000117" "g.48342862dup" "" "{PMID:Wang 2018:30095615}" "" "CRX c.538dupG:p.Val180fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839605dup" "" "likely pathogenic" ""
"0000843884" "21" "70" "19" "48342862" "48342862" "dup" "0" "00000" "CRX_000117" "g.48342862dup" "" "{PMID:Wang 2018:30095615}" "" "CRX c.538dupG:p.Val180fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839605dup" "" "likely pathogenic" ""
"0000843885" "10" "70" "19" "48342862" "48342862" "dup" "0" "00000" "CRX_000117" "g.48342862dup" "" "{PMID:Wang 2018:30095615}" "" "CRX c.538dupG:p.Val180fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839605dup" "" "likely pathogenic" ""
"0000843886" "10" "70" "19" "48342862" "48342862" "dup" "0" "00000" "CRX_000117" "g.48342862dup" "" "{PMID:Wang 2018:30095615}" "" "CRX c.538dupG:p.Val180fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839605dup" "" "likely pathogenic" ""
"0000843887" "10" "70" "19" "48342862" "48342862" "dup" "0" "00000" "CRX_000117" "g.48342862dup" "" "{PMID:Wang 2018:30095615}" "" "CRX c.538dupG:p.Val180fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839605dup" "" "likely pathogenic" ""
"0000843888" "21" "70" "19" "48342634" "48342634" "subst" "0" "00000" "CRX_000115" "g.48342634C>T" "" "{PMID:Chapi 2019:31215831}" "" "CRX c.310C>T" "heterozygous; no protein annotation in paper" "Germline" "yes" "" "0" "" "" "g.47839377C>T" "" "likely pathogenic" ""
"0000843889" "20" "70" "19" "48342634" "48342634" "subst" "0" "00000" "CRX_000115" "g.48342634C>T" "" "{PMID:Chapi 2019:31215831}" "" "CRX c.310C>T" "heterozygous; no protein annotation in paper" "Germline" "yes" "" "0" "" "" "g.47839377C>T" "" "likely pathogenic" ""
"0000843890" "20" "70" "19" "48342634" "48342634" "subst" "0" "00000" "CRX_000115" "g.48342634C>T" "" "{PMID:Chapi 2019:31215831}" "" "CRX c.310C>T" "heterozygous; no protein annotation in paper" "Germline" "yes" "" "0" "" "" "g.47839377C>T" "" "likely pathogenic" ""
"0000843891" "21" "70" "19" "48342634" "48342634" "subst" "0" "00000" "CRX_000115" "g.48342634C>T" "" "{PMID:Chapi 2019:31215831}" "" "CRX c.310C>T" "heterozygous; no protein annotation in paper" "Germline" "yes" "" "0" "" "" "g.47839377C>T" "" "likely pathogenic" ""
"0000843892" "3" "70" "19" "48339521" "48339521" "subst" "0" "00000" "CRX_000030" "g.48339521G>A" "" "{PMID:Chapi 2019:31215831}" "" "CRX c.122G>A" "homozygous; heterozygous family members normal phenotype; no protein annotation in paper" "Germline" "yes" "" "0" "" "" "g.47836264G>A" "" "likely pathogenic" ""
"0000844109" "21" "70" "19" "48339517" "48339517" "subst" "0" "00000" "CRX_000048" "g.48339517C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.118C>T, p.R40W" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836260C>T" "" "likely pathogenic" ""
"0000844110" "0" "70" "19" "48339517" "48339517" "subst" "0" "00000" "CRX_000048" "g.48339517C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.118C>T, p.R40W" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836260C>T" "" "likely pathogenic" ""
"0000844111" "21" "70" "19" "48339517" "48339517" "subst" "0" "00000" "CRX_000048" "g.48339517C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.118C>T, p.R40W" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836260C>T" "" "likely pathogenic" ""
"0000844112" "0" "70" "19" "48339517" "48339517" "subst" "0" "00000" "CRX_000048" "g.48339517C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.118C>T, p.R40W" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836260C>T" "" "likely pathogenic" ""
"0000844113" "0" "70" "19" "48339517" "48339517" "subst" "0" "00000" "CRX_000048" "g.48339517C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.118C>T, p.R40W" "Heterozygous" "Unknown" "?" "" "0" "" "" "g.47836260C>T" "" "likely pathogenic" ""
"0000844114" "10" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "00000" "CRX_000006" "g.48339520C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.121C>T, p.R41W" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836263C>T" "" "likely pathogenic" ""
"0000844115" "11" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "00000" "CRX_000006" "g.48339520C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.121C>T, p.R41W" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836263C>T" "" "likely pathogenic" ""
"0000844116" "0" "70" "19" "48339520" "48339520" "subst" "8.12427E-6" "00000" "CRX_000006" "g.48339520C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.121C>T, p.R41W" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836263C>T" "" "likely pathogenic" ""
"0000844117" "20" "70" "19" "48339526" "48339526" "subst" "0" "00000" "CRX_000010" "g.48339526C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.127C>T, p.R43C" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836269C>T" "" "likely pathogenic" ""
"0000844118" "20" "70" "19" "48339526" "48339526" "subst" "0" "00000" "CRX_000010" "g.48339526C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.127C>T, p.R43C" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836269C>T" "" "likely pathogenic" ""
"0000844119" "11" "70" "19" "48339527" "48339527" "subst" "4.06177E-6" "00000" "CRX_000114" "g.48339527G>A" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.128G>A, p.R43H" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836270G>A" "" "likely pathogenic" ""
"0000844120" "10" "70" "19" "48339527" "48339527" "subst" "4.06177E-6" "00000" "CRX_000114" "g.48339527G>A" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.128G>A, p.R43H" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47836270G>A" "" "likely pathogenic" ""
"0000844121" "3" "70" "19" "48339592" "48339592" "subst" "4.06068E-6" "00000" "CRX_000081" "g.48339592G>C" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.193G>C, p.D65H" "Homozygous" "Unknown" "?" "" "0" "" "" "g.47836335G>C" "" "likely pathogenic" ""
"0000844122" "3" "70" "19" "48339592" "48339592" "subst" "4.06068E-6" "00000" "CRX_000081" "g.48339592G>C" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.193G>C, p.D65H" "Homozygous" "Germline" "yes" "" "0" "" "" "g.47836335G>C" "" "likely pathogenic" ""
"0000844123" "0" "90" "19" "48342592" "48342592" "subst" "0" "00000" "CRX_000001" "g.48342592C>T" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.268C>T, p.R90W" "Heterozygous" "Unknown" "?" "" "0" "" "" "g.47839335C>T" "" "pathogenic" ""
"0000844124" "0" "70" "19" "48342758" "48342758" "del" "0" "00000" "CRX_000116" "g.48342758del" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.430delC, p.P145Lfs*42" "Heterozygous" "De novo" "?" "" "0" "" "" "g.47839501del" "" "likely pathogenic" ""
"0000844125" "0" "70" "19" "48342914" "48342914" "del" "0" "00000" "CRX_000051" "g.48342914del" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.587delC, p.P197Afs*22" "Heterozygous" "Unknown" "?" "" "0" "" "" "g.47839657del" "" "likely pathogenic" ""
"0000844126" "20" "70" "19" "48342914" "48342914" "del" "0" "00000" "CRX_000051" "g.48342914del" "" "{PMID:Fujinami-Yokokawa 2020:32533067}" "" "CRX c.587delC, p.P197Afs*22" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.47839657del" "" "likely pathogenic" ""
"0000844140" "0" "70" "19" "48342592" "48342592" "subst" "0" "00000" "CRX_000001" "g.48342592C>T" "" "{PMID:Ng 2020:32689858}" "" "CRX c.268C>T, p. R90W" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47839335C>T" "" "likely pathogenic" ""
"0000844243" "11" "70" "19" "48342784" "48342784" "del" "0" "00000" "CRX_000119" "g.48342784del" "" "{PMID:Arcot Sadagopan 2013:24093488}" "" "CRX c.460delA (Pro153fsX132)" "error in annotation (first affected amino acid rule) - protein change should be p.(Thr154Profs*33) and not p.(Pro153fs*132); heterozygous" "Germline" "yes" "" "0" "" "" "g.47839527del" "" "likely pathogenic (dominant)" ""
"0000844244" "0" "70" "19" "48342784" "48342784" "del" "0" "00000" "CRX_000119" "g.48342784del" "" "{PMID:Arcot Sadagopan 2013:24093488}" "" "CRX c.460delA (Pro153fsX132)" "error in annotation (first affected amino acid rule) - protein change should be p.(Thr154Profs*33) and not p.(Pro153fs*132); heterozygous" "Germline" "yes" "" "0" "" "" "g.47839527del" "" "likely pathogenic (dominant)" ""
"0000844277" "0" "70" "19" "48342960" "48342960" "del" "0" "00000" "CRX_000121" "g.48342960del" "" "{PMID:Kohl 2012:22183351}" "" "CRX c.636delC, p.Ser213ProfsX*6" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839703del" "" "likely pathogenic (dominant)" ""
"0000844278" "0" "70" "19" "48342819" "48342819" "delins" "0" "00000" "CRX_000120" "g.48342819delinsTTT" "" "{PMID:Kohl 2012:22183351}" "" "CRX c.495delAinsTTT, p.Ala166LeufsX*22" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839562delinsTTT" "" "likely pathogenic (dominant)" ""
"0000844321" "0" "70" "19" "48343033" "48343033" "del" "0" "00000" "CRX_000037" "g.48343033del" "" "{PMID:Wiszniewski 2011:21153841}" "" "CRX c.705delC, p.L236SfsX135" "single allele in a recessive disease; heterozygous" "Unknown" "?" "" "0" "" "" "g.47839776del" "" "likely pathogenic" ""
"0000844611" "0" "70" "19" "48343211" "48343211" "subst" "0" "00000" "CRX_000123" "g.48343211T>G" "" "{PMID:Preising 2007:17525851}" "" "CRX p.F296C (c.887T>G)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839954T>G" "" "likely pathogenic" ""
"0000844612" "0" "70" "19" "48343211" "48343211" "subst" "0" "00000" "CRX_000123" "g.48343211T>G" "" "{PMID:Preising 2007:17525851}" "" "CRX p.F296C (c.887T>G)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47839954T>G" "" "likely pathogenic" ""
"0000844613" "0" "70" "19" "48343140" "48343142" "delins" "0" "00000" "CRX_000122" "g.48343140_48343142delinsAA" "" "{PMID:Preising 2007:17525851}" "" "CRX p.T272RfsX98 (c.816delCACinsAA)" "error in annotation, c.816_818delinsAA and not c.816delCACinsAA, protein p.Thr273Argfs*98 and not p.Thr272Argfs*98 ; heterozygous" "Germline" "yes" "" "0" "" "" "g.47839883_47839885delinsAA" "" "likely pathogenic" ""
"0000844614" "0" "70" "19" "48343140" "48343142" "delins" "0" "00000" "CRX_000122" "g.48343140_48343142delinsAA" "" "{PMID:Preising 2007:17525851}" "" "CRX p.T272RfsX98 (c.816delCACinsAA)" "error in annotation, c.816_818delinsAA and not c.816delCACinsAA, protein p.Thr273Argfs*98 and not p.Thr272Argfs*98 ; heterozygous" "Germline" "yes" "" "0" "" "" "g.47839883_47839885delinsAA" "" "likely pathogenic" ""
"0000844615" "0" "70" "19" "48343140" "48343142" "delins" "0" "00000" "CRX_000122" "g.48343140_48343142delinsAA" "" "{PMID:Preising 2007:17525851}" "" "CRX p.T272RfsX98 (c.816delCACinsAA)" "error in annotation, c.816_818delinsAA and not c.816delCACinsAA, protein p.Thr273Argfs*98 and not p.Thr272Argfs*98 ; heterozygous" "Germline" "yes" "" "0" "" "" "g.47839883_47839885delinsAA" "" "likely pathogenic" ""
"0000844616" "0" "70" "19" "48343140" "48343142" "delins" "0" "00000" "CRX_000122" "g.48343140_48343142delinsAA" "" "{PMID:Preising 2007:17525851}" "" "CRX p.T272RfsX98 (c.816delCACinsAA)" "error in annotation, c.816_818delinsAA and not c.816delCACinsAA, protein p.Thr273Argfs*98 and not p.Thr272Argfs*98 ; heterozygous" "Germline" "yes" "" "0" "" "" "g.47839883_47839885delinsAA" "" "likely pathogenic" ""
"0000844952" "1" "70" "19" "48337724" "48337724" "dup" "0" "00000" "CRX_000124" "g.48337724dup" "" "{PMID:Dharmaraj 2000:11035546}" "" "P9ins1bp het CRX" "single heterozygous" "Germline" "?" "" "0" "" "" "g.47834467dup" "" "likely pathogenic" ""
"0000844953" "0" "70" "19" "48343033" "48343033" "del" "0" "00000" "CRX_000037" "g.48343033del" "" "{PMID:Dharmaraj 2000:11035546}" "" "L237dl1bp het CRX" "single heterozygous" "De novo" "?" "" "0" "" "" "g.47839776del" "" "likely pathogenic" ""
"0000846887" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "CRX c.238G>A , p.(Glu80Lys)" "" "Germline" "yes" "" "0" "" "" "g.47836380G>A" "" "likely pathogenic" ""
"0000846888" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "CRX c.238G>A , p.(Glu80Lys)" "" "Germline" "yes" "" "0" "" "" "g.47836380G>A" "" "likely pathogenic" ""
"0000846889" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "CRX c.238G>A , p.(Glu80Lys)" "" "Germline" "yes" "" "0" "" "" "g.47836380G>A" "" "likely pathogenic" ""
"0000846890" "0" "70" "19" "48339637" "48339637" "subst" "0" "00000" "CRX_000033" "g.48339637G>A" "" "{PMID:Avela 2019:31087526}" "" "CRX c.238G>A , p.(Glu80Lys)" "" "Germline" "yes" "" "0" "" "" "g.47836380G>A" "" "likely pathogenic" ""
"0000855643" "0" "50" "19" "48339580" "48339580" "subst" "0" "01943" "CRX_000125" "g.48339580A>C" "" "" "" "CRX(NM_000554.5):c.181A>C (p.T61P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855644" "0" "50" "19" "48343008" "48343008" "subst" "8.12539E-6" "01943" "CRX_000073" "g.48343008G>C" "" "" "" "CRX(NM_000554.5):c.684G>C (p.Q228H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000866202" "0" "50" "19" "48343089" "48343089" "subst" "6.91327E-5" "01943" "CRX_000126" "g.48343089C>T" "" "" "" "CRX(NM_000554.5):c.765C>T (p.G255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000881427" "1" "70" "19" "48342984" "48342984" "del" "0" "04405" "CRX_000128" "g.48342984del" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.47839727del" "" "likely pathogenic" "ACMG"
"0000881428" "1" "70" "19" "48339521" "48339521" "subst" "0" "04405" "CRX_000127" "g.48339521G>C" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.47836264G>C" "" "likely pathogenic" "ACMG"
"0000881467" "1" "70" "19" "48339521" "48339521" "subst" "0" "04405" "CRX_000127" "g.48339521G>C" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.47836264G>C" "" "likely pathogenic" "ACMG"
"0000905921" "0" "70" "19" "48343175" "48343175" "del" "0" "00000" "CRX_000129" "g.48343175del" "" "{PMID:Zhu 2022:35456422}" "" "CRX c.851del, p.(Asp284Alafs*87)" "heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47839918del" "" "likely pathogenic" "ACMG"
"0000915888" "0" "90" "19" "48339520" "48339520" "subst" "8.12427E-6" "04436" "CRX_000006" "g.48339520C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.121C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915904" "0" "90" "19" "48339520" "48339520" "subst" "8.12427E-6" "04436" "CRX_000006" "g.48339520C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.121C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915933" "0" "90" "19" "48339520" "48339520" "subst" "8.12427E-6" "04436" "CRX_000006" "g.48339520C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.121C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916160" "0" "70" "19" "48342901" "48342902" "del" "0" "04436" "CRX_000130" "g.48342901_48342902del" "" "{PMID:Panneman 2023:36819107}" "" "c.577_578del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916609" "3" "90" "19" "0" "0" "" "0" "04436" "NPHS1_000138" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(-109-?)_(*3358+?)del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000951319" "0" "50" "19" "48339604" "48339604" "subst" "4.06068E-6" "02327" "CRX_000056" "g.48339604C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000951320" "0" "30" "19" "48342689" "48342689" "subst" "0.0126845" "02330" "CRX_000016" "g.48342689G>A" "" "" "" "CRX(NM_000554.6):c.365G>A (p.G122D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000951321" "0" "30" "19" "48342861" "48342861" "subst" "1.226E-5" "02330" "CRX_000131" "g.48342861G>A" "" "" "" "CRX(NM_000554.6):c.537G>A (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000951322" "0" "70" "19" "48342907" "48342910" "dup" "0" "02330" "CRX_000132" "g.48342907_48342910dup" "" "" "" "CRX(NM_000554.6):c.583_586dupTACG (p.A196Vfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000957993" "21" "70" "19" "48309247" "48350581" "del" "0" "00006" "NPHS1_000138" "g.48309247_48350581del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000958115" "0" "70" "19" "48339521" "48339521" "subst" "0" "00006" "CRX_000030" "g.48339521G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.47836264G>A" "" "likely pathogenic (dominant)" "ACMG"
"0000958120" "0" "70" "19" "48340644" "48406926" "del" "0" "00006" "NPHS1_000138" "g.48340644_48406926del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000958125" "1" "70" "19" "48335895" "48338793" "del" "0" "00006" "CRX_000133" "g.48335895_48338793del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.47832638_47835536del" "" "likely pathogenic" "ACMG"
"0000958164" "0" "90" "19" "48342825" "48342825" "dup" "0" "00006" "CRX_000135" "g.48342825dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.47839568dup" "" "pathogenic (dominant)" "ACMG"
"0000958165" "0" "70" "19" "48339638" "48339638" "subst" "0" "00006" "CRX_000134" "g.48339638A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.47836381A>C" "" "likely pathogenic (dominant)" "ACMG"
"0000958232" "0" "70" "19" "48340644" "48406926" "del" "0" "00006" "NPHS1_000138" "g.48340644_48406926del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000958249" "0" "90" "19" "48343090" "48343090" "subst" "0" "00006" "CRX_000118" "g.48343090C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline/De novo (untested)" "" "" "0" "" "" "g.47839833C>T" "" "pathogenic (dominant)" "ACMG"
"0000969824" "0" "70" "19" "48339521" "48339521" "subst" "0" "02327" "CRX_000030" "g.48339521G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000969825" "0" "50" "19" "48339602" "48339602" "subst" "5.685E-5" "02327" "CRX_000136" "g.48339602C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000969827" "0" "10" "19" "48342749" "48342749" "subst" "0.000541893" "02327" "CRX_000031" "g.48342749A>G" "" "" "" "CRX(NM_000554.6):c.425A>G (p.Y142C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000986402" "1" "70" "19" "48339560" "48339560" "subst" "0" "04405" "CRX_000138" "g.48339560T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47836303T>G" "" "likely pathogenic" "ACMG"
"0000986403" "1" "70" "19" "48342616" "48342616" "subst" "0" "04405" "CRX_000107" "g.48342616C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47839359C>T" "" "likely pathogenic" "ACMG"
"0000986404" "1" "90" "19" "48339527" "48339527" "subst" "4.06177E-6" "04405" "CRX_000114" "g.48339527G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47836270G>A" "" "pathogenic" "ACMG"
"0000986405" "3" "50" "19" "48343114" "48343114" "subst" "2.85425E-5" "04405" "CRX_000080" "g.48343114G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47839857G>A" "" "VUS" "ACMG"
"0000986406" "1" "90" "19" "48343090" "48343090" "subst" "0" "04405" "CRX_000118" "g.48343090C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47839833C>T" "" "pathogenic" "ACMG"
"0000986407" "1" "90" "19" "48339520" "48339520" "subst" "8.12427E-6" "04405" "CRX_000006" "g.48339520C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47836263C>T" "" "pathogenic" "ACMG"
"0000986408" "1" "70" "19" "48337700" "48337801" "del" "0" "04405" "CRX_000137" "g.(48325268_48337700)_(48337801_48339499)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000986409" "1" "70" "19" "48342616" "48342616" "subst" "0" "04405" "CRX_000107" "g.48342616C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47839359C>T" "" "likely pathogenic" "ACMG"
"0000986410" "1" "90" "19" "48339517" "48339517" "subst" "0" "04405" "CRX_000048" "g.48339517C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47836260C>T" "" "pathogenic" "ACMG"
"0000986411" "1" "90" "19" "48339527" "48339527" "subst" "4.06177E-6" "04405" "CRX_000114" "g.48339527G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47836270G>A" "" "pathogenic" "ACMG"
"0000986412" "1" "70" "19" "48342592" "48342592" "subst" "0" "04405" "CRX_000001" "g.48342592C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47839335C>T" "" "likely pathogenic" "ACMG"
"0000986413" "1" "70" "19" "48343098" "48343098" "subst" "0" "04405" "CRX_000140" "g.48343098T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47839841T>G" "" "likely pathogenic" "ACMG"
"0000986414" "1" "90" "19" "48339520" "48339520" "subst" "8.12427E-6" "04405" "CRX_000006" "g.48339520C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.47836263C>T" "" "pathogenic" "ACMG"
"0000986415" "1" "70" "19" "48342581" "48342581" "subst" "4.09584E-6" "04405" "CRX_000139" "g.48342581G>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.47839324G>A" "" "likely pathogenic" "ACMG"
"0001004950" "0" "50" "19" "48342994" "48342994" "subst" "0" "02327" "CRX_000141" "g.48342994C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001010909" "0" "70" "19" "48342637" "48342637" "subst" "0" "00006" "CRX_000142" "g.48342637C>T" "" "{PMID:Schorderet 2013:23484092}" "" "CRX-Q105X" "mother healthy heterozygous carrier" "Germline" "" "" "0" "" "" "g.47839380C>T" "" "VUS (!)" ""
"0001015818" "0" "30" "19" "48342749" "48342749" "subst" "0.000541893" "02330" "CRX_000031" "g.48342749A>G" "" "" "" "CRX(NM_000554.6):c.425A>G (p.Y142C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001022257" "1" "70" "19" "48343140" "48343140" "del" "0" "00006" "CRX_000143" "g.48343140del" "" "{PMID:Midgley 2024:39676705}" "" "816delC" "" "Germline" "" "" "0" "" "" "g.47839883del" "" "likely pathogenic" ""
"0001027239" "0" "50" "19" "48339521" "48339521" "subst" "0" "02327" "CRX_000127" "g.48339521G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CRX
## Count = 314
"{{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}}"
"0000019506" "00005705" "90" "437" "0" "449" "0" "c.437_449del" "r.(?)" "p.(Leu146Glnfs*37)" "4"
"0000059873" "00005705" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" "3"
"0000059874" "00005705" "50" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "4"
"0000170935" "00005705" "90" "101" "-582" "122492" "0" "c.101-582_*121592del" "r.0?" "p.0?" "2i_4_"
"0000265015" "00005705" "10" "919" "0" "919" "0" "c.*19C>T" "r.(=)" "p.(=)" ""
"0000265016" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000265017" "00005705" "30" "253" "-15" "253" "-15" "c.253-15G>A" "r.(=)" "p.(=)" ""
"0000274440" "00005705" "90" "101" "-1" "101" "-1" "c.101-1G>A" "r.spl?" "p.?" ""
"0000338275" "00005705" "30" "253" "-15" "253" "-15" "c.253-15G>A" "r.(=)" "p.(=)" ""
"0000339028" "00005705" "50" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" ""
"0000341428" "00005705" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" ""
"0000342869" "00005705" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000342995" "00005705" "50" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48Trp)" ""
"0000349966" "00005705" "90" "573" "0" "573" "0" "c.573T>A" "r.(?)" "p.(Tyr191Ter)" ""
"0000477307" "00005705" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" ""
"0000477308" "00005705" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000477309" "00005705" "50" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Ala114Ser)" ""
"0000477310" "00005705" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" ""
"0000477311" "00005705" "50" "460" "0" "460" "0" "c.460A>G" "r.(?)" "p.(Thr154Ala)" ""
"0000477312" "00005705" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Ile)" ""
"0000477313" "00005705" "90" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Gly243*)" ""
"0000477314" "00005705" "50" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Ser254Leu)" ""
"0000477315" "00005705" "50" "897" "0" "897" "0" "c.897G>C" "r.(?)" "p.(Leu299Phe)" ""
"0000567876" "00005705" "30" "28" "0" "28" "0" "c.28C>G" "r.(?)" "p.(His10Asp)" ""
"0000567877" "00005705" "30" "37" "0" "37" "0" "c.37G>C" "r.(?)" "p.(Val13Leu)" ""
"0000567878" "00005705" "30" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" ""
"0000567879" "00005705" "30" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" ""
"0000567880" "00005705" "10" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Ala121=)" ""
"0000567881" "00005705" "50" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Val131GlyfsTer56)" ""
"0000567882" "00005705" "30" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Gly183=)" ""
"0000567883" "00005705" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Pro184Leu)" ""
"0000567884" "00005705" "10" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" ""
"0000604397" "00005705" "70" "101" "-1" "101" "-1" "c.101-1G>A" "r.spl" "p.?" ""
"0000604398" "00005705" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "3"
"0000604399" "00005705" "90" "443" "0" "443" "0" "c.443del" "r.(?)" "p.(Gly148Alafs*39)" "4"
"0000650019" "00005705" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0000650020" "00005705" "30" "2917" "0" "2917" "0" "c.*2017C>T" "r.(=)" "p.(=)" ""
"0000684403" "00005705" "70" "608" "0" "609" "0" "c.608_609del" "r.(?)" "p.(Ser203Phefs*32)" "4"
"0000684404" "00005705" "70" "564" "0" "564" "0" "c.564dup" "r.(?)" "p.(Ala189Argfs*47)" "4"
"0000684405" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "3"
"0000684411" "00005705" "70" "252" "1" "252" "1" "c.252+1G>A" "r.spl" "p.?" "3i"
"0000684524" "00005705" "70" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Leu237Serfs*134)" ""
"0000685184" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000692849" "00005705" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ser199=)" ""
"0000711689" "00005705" "70" "458" "0" "458" "0" "c.458del" "r.(?)" "p.(Pro153Glnfs*34)" "1"
"0000711794" "00005705" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" ""
"0000711795" "00005705" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" ""
"0000711796" "00005705" "90" "585" "0" "585" "0" "c.585dup" "r.(?)" "p.(Ala196Argfs*40)" "1"
"0000711803" "00005705" "90" "438" "0" "449" "0" "c.438_449del" "r.(?)" "p.(Pro147_Ser150del)" "1"
"0000711823" "00005705" "30" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(His10Tyr)" "1"
"0000711824" "00005705" "30" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" "1"
"0000711825" "00005705" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" "1"
"0000711826" "00005705" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.?" "1"
"0000711827" "00005705" "30" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Val180Met)" "1"
"0000711828" "00005705" "30" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ser199Phe)" "1"
"0000713477" "00005705" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" ""
"0000713506" "00005705" "90" "447" "0" "448" "0" "c.447_448del" "r.(?)" "p.(Ser150Argfs*23)" ""
"0000713618" "00005705" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" ""
"0000714002" "00005705" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Ile)" ""
"0000727466" "00005705" "30" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Thr273=)" ""
"0000729753" "00005705" "70" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" ""
"0000730677" "00005705" "90" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Pro197Argfs*22)" "4"
"0000730678" "00005705" "90" "159" "0" "159" "0" "c.159del" "r.(?)" "p.(Glu53Aspfs*22)" "3"
"0000730679" "00005705" "90" "434" "0" "434" "0" "c.434dup" "r.(?)" "p.(Leu146Serfs*28)" "4"
"0000730680" "00005705" "90" "663" "0" "663" "0" "c.663C>A" "r.(?)" "p.(Tyr221*)" "4"
"0000731019" "00005705" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" ""
"0000731319" "00005705" "90" "443" "0" "443" "0" "c.443del" "r.(?)" "p.(Gly148Alafs*39)" ""
"0000732640" "00005705" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000732642" "00005705" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000732653" "00005705" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000732654" "00005705" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000732816" "00005705" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000732858" "00005705" "70" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Tyr221Thrfs*9)" ""
"0000732866" "00005705" "70" "571" "0" "571" "0" "c.571del" "r.(?)" "p.(Tyr191Metfs*3)" ""
"0000734338" "00005705" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" ""
"0000735614" "00005705" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Cys)" ""
"0000735615" "00005705" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Cys)" ""
"0000735737" "00005705" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Cys)" ""
"0000735739" "00005705" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Cys)" ""
"0000735821" "00005705" "70" "785" "0" "785" "0" "c.785del" "r.(?)" "p.(Ser262ThrfsTer109)" ""
"0000735927" "00005705" "70" "101" "-1" "1997" "0" "c.(100+1_101-1)_(*1097_?)del" "Unable to predict" "p.?" ""
"0000736075" "00005705" "70" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Tyr221*)" ""
"0000736081" "00005705" "70" "710" "0" "710" "0" "c.710del" "r.(?)" "p.(Leu237Profs*134)" ""
"0000736208" "00005705" "90" "514" "0" "514" "0" "c.514delC" "r.(?)" "p.(Pro172Leufs*15)" "4"
"0000736402" "00005705" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "1"
"0000736403" "00005705" "90" "436" "0" "447" "0" "c.436_447del" "r.(?)" "p.(Leu146_Pro149del)" "1"
"0000759849" "00005705" "70" "576" "0" "576" "0" "c.576del" "r.(?)" "p.(Met193Ter)" ""
"0000760165" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000760207" "00005705" "70" "570" "0" "570" "0" "c.570del" "r.(?)" "p.(Tyr191Metfs*3)" ""
"0000760360" "00005705" "50" "605" "0" "605" "0" "c.605del" "r.(?)" "p.(Cys202Serfs*17)" ""
"0000760366" "00005705" "50" "100" "1" "100" "1" "c.100+1G>C" "r.spl" "p.?" ""
"0000760669" "00005705" "90" "101" "-1" "1997" "0" "c.(100+1_101-1)_(*1097_?)del" "r.?" "p.?" ""
"0000763869" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000763870" "00005705" "90" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Glu80Gly)" ""
"0000763871" "00005705" "70" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" ""
"0000763961" "00005705" "90" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Ala121Val)" ""
"0000763962" "00005705" "90" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Ala112Val)" ""
"0000764029" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000764034" "00005705" "70" "285" "0" "285" "0" "c.285del" "r.(?)" "p.(Arg95SerfsTer92)" ""
"0000764887" "00005705" "70" "502" "0" "502" "0" "c.502del" "r.(?)" "p.(Glu168SerfsTer19)" ""
"0000764893" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000765475" "00005705" "70" "684" "0" "684" "0" "c.684G>C" "r.(?)" "p.(Gln228His)" ""
"0000765559" "00005705" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Gln228*)" ""
"0000765751" "00005705" "70" "695" "0" "695" "0" "c.695del" "r.(?)" "p.(Pro232ArgfsTer139)" ""
"0000765764" "00005705" "70" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Ala92Thr)" ""
"0000765844" "00005705" "70" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0000765860" "00005705" "70" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0000783787" "00005705" "90" "571" "0" "571" "0" "c.571del" "r.(?)" "p.(Tyr191MetfsTer3)" ""
"0000783825" "00005705" "90" "421" "0" "421" "0" "c.421del" "r.(?)" "p.(Ser141ProfsTer46)" ""
"0000784155" "00005705" "50" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Ala112Val)" ""
"0000784189" "00005705" "90" "541" "0" "541" "0" "c.541del" "r.(?)" "p.(Ala181ProfsTer6)" ""
"0000784541" "00005705" "50" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Ala112Val)" ""
"0000785383" "00005705" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Cys)" ""
"0000785523" "00005705" "90" "590" "0" "590" "0" "c.590dup" "r.(?)" "p.(Ala198GlyfsTer38)" ""
"0000786365" "00005705" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" ""
"0000787687" "00005705" "70" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Val264Met)" ""
"0000787756" "00005705" "90" "449" "0" "449" "0" "c.449C>G" "r.(?)" "p.(Ser150*)" ""
"0000787757" "00005705" "90" "449" "0" "449" "0" "c.449C>G" "r.(?)" "p.(Ser150*)" ""
"0000788078" "00005705" "90" "193" "0" "193" "0" "c.193G>C" "r.(?)" "p.(Asp65His)" ""
"0000788079" "00005705" "90" "193" "0" "193" "0" "c.193G>C" "r.(?)" "p.(Asp65His)" ""
"0000788136" "00005705" "70" "897" "0" "897" "0" "c.897G>C" "r.(?)" "p.(Leu299Phe)" ""
"0000788602" "00005705" "50" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Ser203Pro)" "3"
"0000789695" "00005705" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" "1"
"0000789697" "00005705" "90" "193" "0" "193" "0" "c.193G>C" "r.(?)" "p.(Asp65His)" "1"
"0000789703" "00005705" "90" "455" "0" "455" "0" "c.455C>A" "r.(?)" "p.(Ser152Tyr)" "1"
"0000789706" "00005705" "55" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" "1"
"0000789853" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" "1"
"0000789854" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" "1"
"0000789855" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" "1"
"0000789856" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" "1"
"0000790100" "00005705" "30" "460" "0" "460" "0" "c.460A>G" "r.(?)" "p.(Thr154Ala)" "1"
"0000790326" "00005705" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" "1"
"0000790327" "00005705" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" "1"
"0000790555" "00005705" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" ""
"0000790594" "00005705" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" ""
"0000791423" "00005705" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "3"
"0000791424" "00005705" "70" "429" "0" "429" "0" "c.429del" "r.(?)" "p.(Pro145Leufs*42)" "4"
"0000791425" "00005705" "70" "590" "0" "590" "0" "c.590dup" "r.(?)" "p.(Ala198Glyfs*38)" "4"
"0000791562" "00005705" "70" "101" "-284" "3205" "0" "c.101-284_*2305del" "r.spl" "p.(?)" "_3_4_"
"0000791563" "00005705" "70" "101" "-155" "5031" "0" "c.101-155_*4131del" "r.spl" "p.(?)" "_3_4_"
"0000791581" "00005705" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Glu42Lys)" "3"
"0000791592" "00005705" "50" "225" "0" "225" "0" "c.225G>C" "r.(?)" "p.(Lys75Asn)" "3"
"0000792173" "00005705" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Glu42Lys)" "1"
"0000792174" "00005705" "90" "541" "0" "541" "0" "c.541delG" "r.(?)" "p.(Ala181Profs*6)" "1"
"0000792175" "00005705" "90" "458" "0" "458" "0" "c.458delC" "r.(?)" "p.(Pro153Glnfs*34)" "1"
"0000793801" "00005705" "70" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Ile)" "1"
"0000794007" "00005705" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "1"
"0000794258" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000794309" "00005705" "90" "509" "0" "509" "0" "c.509del" "r.(?)" "p.(Pro170Leufs*17)" "4"
"0000794931" "00005705" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" "1"
"0000795969" "00005705" "70" "573" "0" "573" "0" "c.573T>A" "r.(?)" "p.(Tyr191*)" "1"
"0000796137" "00005705" "70" "196" "0" "196" "0" "c.196G>A" "r.?" "p.(Val66Ile)" "1"
"0000796707" "00005705" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "1"
"0000796709" "00005705" "70" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" "1"
"0000796811" "00005705" "90" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(*300Trpext*118)" "1"
"0000796812" "00005705" "90" "253" "-1" "4263" "1" "c.(?_253-1)_(*3363+1_?)del" "r.(?)" "p.?" "1_5"
"0000796848" "00005705" "70" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" "1"
"0000796890" "00005705" "90" "431" "0" "443" "0" "c.431_443del13" "r.(?)" "p.(Leu146Glnfs*37)" "1"
"0000797121" "00005705" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "3"
"0000797602" "00005705" "70" "381" "0" "381" "0" "c.381dup" "r.(?)" "p.(Ser128Leufs*46)" ""
"0000797603" "00005705" "70" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Trp276*)" ""
"0000797606" "00005705" "70" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" ""
"0000797607" "00005705" "70" "684" "0" "684" "0" "c.684G>C" "r.(?)" "p.(Gln228His)" ""
"0000797996" "00005705" "50" "-1" "0" "901" "0" "c.(?_-1)_(*1_?)dup" "r.(?)" "p.(?)" ""
"0000797998" "00005705" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0000797999" "00005705" "50" "28" "0" "28" "0" "c.28C>G" "r.(?)" "p.(His10Asp)" ""
"0000808966" "00005705" "70" "480" "0" "481" "0" "c.480_481del" "r.(?)" "p.(Ser161Hisfs*12)" ""
"0000808967" "00005705" "50" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Pro232Leu)" ""
"0000811888" "00005705" "70" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" ""
"0000811889" "00005705" "70" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" ""
"0000811938" "00005705" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" ""
"0000811951" "00005705" "90" "100" "2" "100" "2" "c.100+2T>C" "r.spl" "p.?" "p.(?)"
"0000811954" "00005705" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.Y142C" "p.(Tyr142Cys)"
"0000811955" "00005705" "90" "404" "0" "404" "0" "c.404del" "r.(?)" "p.P135Lfs*52" "p.(Pro135Leufs*52)"
"0000811959" "00005705" "70" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Lys88Glu)" ""
"0000811961" "00005705" "70" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" ""
"0000811966" "00005705" "70" "258" "0" "258" "0" "c.258G>T" "r.(?)" "p.(Trp86Cys)" ""
"0000811969" "00005705" "70" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" ""
"0000812675" "00005705" "70" "573" "0" "573" "0" "c.573T>G" "r.(?)" "p.(Tyr191*)" ""
"0000812776" "00005705" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Val264Met)" ""
"0000813637" "00005705" "90" "480" "0" "481" "0" "c.480_481delGT" "r.(?)" "p.(Ser161Hisfs*12)" ""
"0000813647" "00005705" "90" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Tyr221*)" ""
"0000813689" "00005705" "90" "782" "0" "782" "0" "c.782delA" "r.(?)" "p.(Tyr261Serfs*110)" ""
"0000813703" "00005705" "90" "545" "0" "545" "0" "c.545C>G" "r.(?)" "p.(Ser182*)" ""
"0000813712" "00005705" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Glu42Lys)" ""
"0000813724" "00005705" "90" "500" "0" "501" "0" "c.500_501delCA" "r.(?)" "p.(Ser167*)" ""
"0000815070" "00005705" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" ""
"0000815361" "00005705" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0000815558" "00005705" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0000816289" "00005705" "50" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" ""
"0000817489" "00005705" "50" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "1"
"0000818418" "00005705" "90" "101" "-1" "101" "-1" "c.101-1G>A" "r.spl" "p.?" ""
"0000818419" "00005705" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" ""
"0000818420" "00005705" "90" "443" "0" "443" "0" "c.443del" "r.(?)" "p.(Gly148Alafs*39)" ""
"0000819711" "00005705" "70" "404" "0" "404" "0" "c.404del" "r.(?)" "p.(Pro135Leufs*52)" ""
"0000819712" "00005705" "70" "404" "0" "404" "0" "c.404del" "r.(?)" "p.(Pro135Leufs*52)" ""
"0000819757" "00005705" "70" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" ""
"0000820083" "00005705" "70" "100" "2" "100" "2" "c.100+2T>C" "r.spl" "p.(?)" ""
"0000820200" "00005705" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" ""
"0000820247" "00005705" "70" "404" "0" "404" "0" "c.404del" "r.(?)" "p.(Pro135Leufs*52)" ""
"0000820325" "00005705" "70" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" ""
"0000821236" "00005705" "70" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" ""
"0000821237" "00005705" "70" "448" "0" "449" "0" "c.448_449del" "r.(?)" "p.(Ser150Argfs*23)" ""
"0000821238" "00005705" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" ""
"0000822382" "00005705" "70" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "1"
"0000822689" "00005705" "70" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Pro197Argfs*22)" "4"
"0000822690" "00005705" "70" "434" "0" "434" "0" "c.434dup" "r.(?)" "p.(Leu146Serfs*28)" "4"
"0000822691" "00005705" "70" "159" "0" "159" "0" "c.159del" "r.(?)" "p.(Glu53Aspfs*22)" "3"
"0000823252" "00005705" "90" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Leu179Trpfs*8)" ""
"0000823350" "00005705" "70" "500" "0" "501" "0" "c.500_501del" "r.(?)" "p.(Ser167*)" ""
"0000824397" "00005705" "90" "445" "0" "467" "0" "c.445_467del" "r.(?)" "p.(Pro149Serfs*17)" "4"
"0000824706" "00005705" "50" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106Ter)" ""
"0000824711" "00005705" "30" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000825787" "00005705" "70" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" "1"
"0000825788" "00005705" "70" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "1"
"0000825909" "00005705" "70" "263" "0" "263" "0" "c.263A>T" "r.(?)" "p.(Lys88Met)" "1"
"0000829468" "00005705" "70" "571" "0" "571" "0" "c.571del" "r.(?)" "p.(Tyr191Metfs*3)" "1"
"0000829697" "00005705" "70" "648" "0" "648" "0" "c.648del" "r.(?)" "p.(Ser216ArgfsTer3)" ""
"0000841435" "00005705" "90" "458" "0" "458" "0" "c.458del" "r.(?)" "p.(Pro153Glnfs*34)" ""
"0000843879" "00005705" "70" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Gln256*)" ""
"0000843880" "00005705" "70" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Gln256*)" ""
"0000843882" "00005705" "70" "538" "0" "538" "0" "c.538dup" "r.(?)" "p.(Val180Glyfs*56)" ""
"0000843883" "00005705" "70" "538" "0" "538" "0" "c.538dup" "r.(?)" "p.(Val180Glyfs*56)" ""
"0000843884" "00005705" "70" "538" "0" "538" "0" "c.538dup" "r.(?)" "p.(Val180Glyfs*56)" ""
"0000843885" "00005705" "70" "538" "0" "538" "0" "c.538dup" "r.(?)" "p.(Val180Glyfs*56)" ""
"0000843886" "00005705" "70" "538" "0" "538" "0" "c.538dup" "r.(?)" "p.(Val180Glyfs*56)" ""
"0000843887" "00005705" "70" "538" "0" "538" "0" "c.538dup" "r.(?)" "p.(Val180Glyfs*56)" ""
"0000843888" "00005705" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Gln104*)" ""
"0000843889" "00005705" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Gln104*)" ""
"0000843890" "00005705" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Gln104*)" ""
"0000843891" "00005705" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Gln104*)" ""
"0000843892" "00005705" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" ""
"0000844109" "00005705" "70" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "3"
"0000844110" "00005705" "70" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "3"
"0000844111" "00005705" "70" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "3"
"0000844112" "00005705" "70" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "3"
"0000844113" "00005705" "70" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "3"
"0000844114" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "3"
"0000844115" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "3"
"0000844116" "00005705" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "3"
"0000844117" "00005705" "70" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" "3"
"0000844118" "00005705" "70" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" "3"
"0000844119" "00005705" "70" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43His)" "3"
"0000844120" "00005705" "70" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43His)" "3"
"0000844121" "00005705" "70" "193" "0" "193" "0" "c.193G>C" "r.(?)" "p.(Asp65His)" "3"
"0000844122" "00005705" "70" "193" "0" "193" "0" "c.193G>C" "r.(?)" "p.(Asp65His)" "3"
"0000844123" "00005705" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" "4"
"0000844124" "00005705" "70" "430" "0" "430" "0" "c.430delC" "r.(?)" "p.(Pro145Leufs*42)" "4"
"0000844125" "00005705" "70" "587" "0" "587" "0" "c.587delC" "r.(?)" "p.(Pro197Argfs*22)" "4"
"0000844126" "00005705" "70" "587" "0" "587" "0" "c.587delC" "r.(?)" "p.(Pro197Argfs*22)" "4"
"0000844140" "00005705" "70" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" "4"
"0000844243" "00005705" "70" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Thr154Profs*33)" ""
"0000844244" "00005705" "70" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Thr154Profs*33)" ""
"0000844277" "00005705" "70" "636" "0" "636" "0" "c.636delC" "r.(?)" "p.(Ser213ProfsTer6)" ""
"0000844278" "00005705" "70" "495" "0" "495" "0" "c.495delAinsTTT" "r.(?)" "p.(Ala166LeufsTer22)" ""
"0000844321" "00005705" "70" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Leu236Serfs*135)" ""
"0000844611" "00005705" "70" "887" "0" "887" "0" "c.887T>G" "r.(?)" "p.(Phe296Cys)" ""
"0000844612" "00005705" "70" "887" "0" "887" "0" "c.887T>G" "r.(?)" "p.(Phe296Cys)" ""
"0000844613" "00005705" "70" "816" "0" "818" "0" "c.816_818delinsAA" "r.(?)" "p.(Thr273ArgfsTer98)" ""
"0000844614" "00005705" "70" "816" "0" "818" "0" "c.816_818delinsAA" "r.(?)" "p.(Thr273ArgfsTer98)" ""
"0000844615" "00005705" "70" "816" "0" "818" "0" "c.816_818delinsAA" "r.(?)" "p.(Thr273ArgfsTer98)" ""
"0000844616" "00005705" "70" "816" "0" "818" "0" "c.816_818delinsAA" "r.(?)" "p.(Thr273ArgfsTer98)" ""
"0000844952" "00005705" "70" "24" "0" "24" "0" "c.24dup" "r.(?)" "p.(Pro9Alafs*62)" ""
"0000844953" "00005705" "70" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Leu237Serfs*134)" ""
"0000846887" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000846888" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000846889" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000846890" "00005705" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000855643" "00005705" "50" "181" "0" "181" "0" "c.181A>C" "r.(?)" "p.(Thr61Pro)" ""
"0000855644" "00005705" "50" "684" "0" "684" "0" "c.684G>C" "r.(?)" "p.(Gln228His)" ""
"0000866202" "00005705" "50" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Gly255=)" ""
"0000881427" "00005705" "70" "660" "0" "660" "0" "c.660del" "r.(?)" "p.(Tyr221Thrfs*9)" ""
"0000881428" "00005705" "70" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Arg41Pro)" ""
"0000881467" "00005705" "70" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Arg41Pro)" ""
"0000905921" "00005705" "70" "851" "0" "851" "0" "c.851del" "r.(?)" "p.(Asp284Alafs*87)" ""
"0000915888" "00005705" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "1"
"0000915904" "00005705" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "1"
"0000915933" "00005705" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "1"
"0000916160" "00005705" "70" "577" "0" "578" "0" "c.577_578del" "r.(?)" "p.(Met193Aspfs*42)" "1"
"0000916609" "00005705" "90" "" "0" "" "0" "c.(-109-?)_(*3358+?)del" "r.?" "p.(0)" ""
"0000951319" "00005705" "50" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Cys)" ""
"0000951320" "00005705" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Gly122Asp)" ""
"0000951321" "00005705" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(=)" ""
"0000951322" "00005705" "70" "583" "0" "586" "0" "c.583_586dup" "r.(?)" "p.(Ala196Valfs*41)" ""
"0000957993" "00005705" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000958115" "00005705" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" ""
"0000958120" "00005705" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000958125" "00005705" "70" "-35" "-1771" "101" "-707" "c.-35-1771_101-707del" "r.0?" "p.0?" ""
"0000958164" "00005705" "90" "501" "0" "501" "0" "c.501dup" "r.(?)" "p.(Glu168ArgfsTer6)" ""
"0000958165" "00005705" "70" "239" "0" "239" "0" "c.239A>C" "r.(?)" "p.(Glu80Ala)" ""
"0000958232" "00005705" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000958249" "00005705" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Gln256Ter)" ""
"0000969824" "00005705" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" ""
"0000969825" "00005705" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" ""
"0000969827" "00005705" "10" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0000986402" "00005705" "70" "161" "0" "161" "0" "c.161T>G" "r.(?)" "p.(Leu54Arg)" "3"
"0000986403" "00005705" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "4"
"0000986404" "00005705" "90" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43His)" "3"
"0000986405" "00005705" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Val264Met)" "4"
"0000986406" "00005705" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Gln256Ter)" "4"
"0000986407" "00005705" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "3"
"0000986408" "00005705" "70" "-1" "0" "100" "1" "c.(-36+1_-1)_(100+1_101-1)del" "r.0?" "p.0?" "1i_2i"
"0000986409" "00005705" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "4"
"0000986410" "00005705" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "3"
"0000986411" "00005705" "90" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43His)" "3"
"0000986412" "00005705" "70" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" "4"
"0000986413" "00005705" "70" "774" "0" "774" "0" "c.774T>G" "r.(?)" "p.(Tyr258Ter)" "4"
"0000986414" "00005705" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" "3"
"0000986415" "00005705" "70" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Trp86Ter)" "4"
"0001004950" "00005705" "50" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Pro224Ser)" ""
"0001010909" "00005705" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Gln105*)" ""
"0001015818" "00005705" "30" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" ""
"0001022257" "00005705" "70" "816" "0" "816" "0" "c.816del" "r.(?)" "p.(Thr273ArgfsTer98)" ""
"0001027239" "00005705" "50" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Arg41Pro)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 272
"{{screeningid}}" "{{variantid}}"
"0000001604" "0000019506"
"0000033202" "0000059874"
"0000033223" "0000059873"
"0000105489" "0000170935"
"0000174756" "0000784155"
"0000234599" "0000477307"
"0000234600" "0000477308"
"0000234601" "0000477309"
"0000234602" "0000477310"
"0000234603" "0000477311"
"0000234604" "0000477312"
"0000234605" "0000477313"
"0000234606" "0000477314"
"0000234607" "0000477315"
"0000270618" "0000604397"
"0000270618" "0000604398"
"0000270619" "0000604399"
"0000293330" "0000650019"
"0000293331" "0000650020"
"0000309538" "0000684403"
"0000309539" "0000684404"
"0000309540" "0000684405"
"0000309546" "0000684411"
"0000309651" "0000684524"
"0000310273" "0000685184"
"0000327896" "0000711689"
"0000328001" "0000711794"
"0000328002" "0000711795"
"0000328003" "0000711796"
"0000328009" "0000711803"
"0000329354" "0000713477"
"0000329383" "0000713506"
"0000329495" "0000713618"
"0000329619" "0000714002"
"0000332498" "0000729753"
"0000333253" "0000730677"
"0000333254" "0000730678"
"0000333255" "0000730679"
"0000333256" "0000730680"
"0000333444" "0000731019"
"0000333617" "0000731319"
"0000334665" "0000732653"
"0000334667" "0000732640"
"0000334668" "0000732654"
"0000334669" "0000732642"
"0000334809" "0000732816"
"0000334851" "0000732858"
"0000334859" "0000732866"
"0000335644" "0000734338"
"0000336339" "0000735614"
"0000336339" "0000735737"
"0000336340" "0000735615"
"0000336340" "0000735739"
"0000336446" "0000735821"
"0000336531" "0000735927"
"0000336630" "0000736075"
"0000336636" "0000736081"
"0000336718" "0000736208"
"0000336864" "0000736402"
"0000336865" "0000736403"
"0000360151" "0000759849"
"0000360273" "0000760165"
"0000360315" "0000760207"
"0000360468" "0000760360"
"0000360474" "0000760366"
"0000360627" "0000760669"
"0000363292" "0000763869"
"0000363293" "0000763870"
"0000363294" "0000763871"
"0000363384" "0000763961"
"0000363385" "0000763962"
"0000363392" "0000764029"
"0000363397" "0000764034"
"0000364125" "0000764887"
"0000364131" "0000764893"
"0000364610" "0000765475"
"0000364684" "0000765559"
"0000364809" "0000765751"
"0000364822" "0000765764"
"0000364902" "0000765844"
"0000364918" "0000765860"
"0000373639" "0000783787"
"0000373677" "0000783825"
"0000373869" "0000784541"
"0000373876" "0000784189"
"0000374591" "0000785383"
"0000374700" "0000785523"
"0000375098" "0000786365"
"0000376154" "0000787687"
"0000376178" "0000787756"
"0000376179" "0000787757"
"0000376470" "0000788078"
"0000376471" "0000788079"
"0000376528" "0000788136"
"0000376707" "0000788602"
"0000377376" "0000789695"
"0000377378" "0000789697"
"0000377384" "0000789703"
"0000377386" "0000789706"
"0000377495" "0000789853"
"0000377496" "0000789854"
"0000377497" "0000789855"
"0000377498" "0000789856"
"0000377685" "0000790100"
"0000377921" "0000790326"
"0000377922" "0000790327"
"0000377975" "0000790555"
"0000377988" "0000790594"
"0000378574" "0000791423"
"0000378575" "0000791424"
"0000378576" "0000791425"
"0000378713" "0000791562"
"0000378714" "0000791563"
"0000378728" "0000791581"
"0000378739" "0000791592"
"0000379103" "0000792173"
"0000379104" "0000792174"
"0000379105" "0000792175"
"0000380649" "0000793801"
"0000380809" "0000794007"
"0000380997" "0000794258"
"0000381029" "0000794309"
"0000381471" "0000794931"
"0000382221" "0001010909"
"0000382244" "0000795969"
"0000382360" "0000796137"
"0000382830" "0000796707"
"0000382830" "0000796709"
"0000382873" "0000796811"
"0000382873" "0000796812"
"0000382896" "0000796848"
"0000382926" "0000796890"
"0000383129" "0000797121"
"0000383487" "0000797602"
"0000383488" "0000797603"
"0000383490" "0000797606"
"0000383491" "0000797607"
"0000383751" "0000797996"
"0000383752" "0000797998"
"0000383753" "0000797999"
"0000385003" "0000811888"
"0000385004" "0000811889"
"0000385068" "0000811938"
"0000385075" "0000811954"
"0000385076" "0000811955"
"0000385077" "0000811951"
"0000385083" "0000811959"
"0000385085" "0000811961"
"0000385090" "0000811966"
"0000385092" "0000811969"
"0000385586" "0000812675"
"0000385674" "0000812776"
"0000386230" "0000813637"
"0000386240" "0000813647"
"0000386282" "0000813689"
"0000386296" "0000813703"
"0000386305" "0000813712"
"0000386317" "0000813724"
"0000387191" "0000815070"
"0000387432" "0000815558"
"0000387477" "0000815361"
"0000388131" "0000816289"
"0000388736" "0000817489"
"0000389393" "0000818418"
"0000389393" "0000818419"
"0000389394" "0000818420"
"0000390366" "0000819711"
"0000390367" "0000819712"
"0000390412" "0000819757"
"0000390738" "0000820083"
"0000390855" "0000820200"
"0000390902" "0000820247"
"0000390980" "0000820325"
"0000391487" "0000821236"
"0000391488" "0000821237"
"0000391489" "0000821238"
"0000392186" "0000822382"
"0000392398" "0000822689"
"0000392399" "0000822690"
"0000392400" "0000822691"
"0000392817" "0000823252"
"0000392881" "0000823350"
"0000393616" "0000824397"
"0000393884" "0000824706"
"0000393889" "0000824711"
"0000394769" "0000825787"
"0000394769" "0000825788"
"0000394851" "0000825909"
"0000397468" "0000829468"
"0000397649" "0000829697"
"0000405347" "0000841435"
"0000407312" "0000843879"
"0000407313" "0000843880"
"0000407314" "0000843882"
"0000407315" "0000843883"
"0000407316" "0000843884"
"0000407317" "0000843885"
"0000407318" "0000843886"
"0000407319" "0000843887"
"0000407320" "0000843888"
"0000407321" "0000843889"
"0000407322" "0000843890"
"0000407323" "0000843891"
"0000407324" "0000843892"
"0000407446" "0000844109"
"0000407447" "0000844110"
"0000407448" "0000844111"
"0000407449" "0000844112"
"0000407450" "0000844113"
"0000407451" "0000844114"
"0000407452" "0000844115"
"0000407453" "0000844116"
"0000407454" "0000844117"
"0000407455" "0000844118"
"0000407456" "0000844119"
"0000407457" "0000844120"
"0000407458" "0000844121"
"0000407459" "0000844122"
"0000407460" "0000844123"
"0000407461" "0000844124"
"0000407462" "0000844125"
"0000407463" "0000844126"
"0000407477" "0000844140"
"0000407565" "0000844243"
"0000407566" "0000844244"
"0000407600" "0000844277"
"0000407601" "0000844278"
"0000407636" "0000844321"
"0000407815" "0000844611"
"0000407816" "0000844612"
"0000407817" "0000844613"
"0000407818" "0000844614"
"0000407819" "0000844615"
"0000407820" "0000844616"
"0000408076" "0000844952"
"0000408077" "0000844953"
"0000409683" "0000846887"
"0000409684" "0000846888"
"0000409685" "0000846889"
"0000409686" "0000846890"
"0000421006" "0000881467"
"0000421009" "0000881427"
"0000421010" "0000881428"
"0000428245" "0000905921"
"0000430972" "0000915888"
"0000430986" "0000915904"
"0000431004" "0000915933"
"0000431163" "0000916160"
"0000431447" "0000916609"
"0000448507" "0000957993"
"0000448629" "0000958115"
"0000448634" "0000958120"
"0000448639" "0000958125"
"0000448678" "0000958164"
"0000448679" "0000958165"
"0000448746" "0000958232"
"0000448763" "0000958249"
"0000452419" "0000986402"
"0000452420" "0000986403"
"0000452421" "0000986404"
"0000452422" "0000986405"
"0000452423" "0000986406"
"0000452424" "0000986407"
"0000452425" "0000986408"
"0000452426" "0000986409"
"0000452427" "0000986410"
"0000452428" "0000986411"
"0000452429" "0000986412"
"0000452430" "0000986413"
"0000452431" "0000986414"
"0000452432" "0000986415"
"0000462706" "0001022257"