### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDHR1) # 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}}" "CDHR1" "cadherin-related family member 1" "10" "q23.1" "unknown" "NG_028034.1" "UD_132085441088" "" "https://www.LOVD.nl/CDHR1" "" "1" "14550" "92211" "609502" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CDHR1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2017-02-01 11:10:22" "00000" "2025-07-30 12:29:03" ## 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}}" "00024225" "CDHR1" "transcript variant 1" "002" "NM_033100.3" "" "NP_149091.1" "" "" "" "-126" "6655" "2580" "85954391" "85978452" "00006" "2017-02-01 11:12:47" "" "" ## 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" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "03382" "CORD15" "dystrophy, cone-rod, type 15 (CORD-15)" "AR" "613660" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04124" "PGBM1" "polyglucosan body myopathy, early-onset, with/without immunodeficiency" "AR" "615895" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "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 = 1 "{{geneid}}" "{{diseaseid}}" "CDHR1" "03382" ## Individuals ## Do not remove or alter this header ## ## Count = 263 "{{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}}" "00001824" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00057782" "" "" "" "1" "" "01338" "" "" "F" "yes" "India" "" "0" "yes" "" "Indian" "" "00087952" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00100108" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61220" "00155403" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Druze" "" "00155404" "" "" "" "3" "" "01243" "{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}" "family" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0056" "00155405" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00240425" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240426" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00290154" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290155" "" "" "" "72" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295117" "" "" "" "82" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00305324" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308376" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC04239" "00308420" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}" "" "" "" "France" "" "0" "" "" "" "CIC07507" "00309021" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309022" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309023" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309024" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309025" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309026" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309680" "" "" "" "3" "" "00004" "{PMID:Lazar 2015:25515582}" "2-generation family, 3 affected (2F, M)" "F;M" "yes" "Israel" "" "0" "" "" "Arab Muslim" "MOL0056" "00325430" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "1977" "00328004" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001041" "00328009" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001046" "00328021" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001282" "00328103" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005206" "00328251" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G008998" "00328267" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G009848" "00331291" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "patient, no family history" "F" "" "Japan" "" "0" "" "" "" "Pat45" "00331957" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat95" "00331958" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat96" "00331959" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat97" "00331960" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat98" "00331961" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat99" "00331962" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat100" "00333354" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat12" "00333366" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat11" "00333811" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "7" "00333893" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "260" "00333894" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "261" "00333921" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "344" "00334892" "" "" "" "1" "" "00000" "{PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "61289" "00335238" "" "" "" "3" "" "00000" "{PMID:Riera 2017:28181551}" "4-generation family, 3 affected (F, 2M)" "F;M" "" "Spain" "" "0" "" "" "" "Fi15/19PatIII1/2" "00335255" "" "" "00335238" "1" "" "00006" "{PMID:Riera 2017:28181551}" "" "M" "" "Spain" "" "0" "" "" "" "Fi15/19PatIII4" "00335410" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP096" "00335963" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358934" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27391102}" "" "" "" "Switzerland" "" "0" "" "" "" "Case26007" "00358939" "" "" "" "1" "" "00006" "{PMID:Sundaramurthy 2016:27383656}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "India" "" "0" "" "" "" "Fam03" "00358951" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71927" "00358974" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71749" "00358977" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case25939" "00359151" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13002976" "00362165" "" "" "" "1" "" "00000" "{PMID:Oishi 2016:26957898}" "2-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "K6140" "00362225" "" "" "" "1" "" "04043" "{PMID:Fadaie 2021:34795310}" "" "" "" "Ireland" "" "0" "" "" "" "Pat7" "00362929" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD69" "00363572" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "08DG-00234" "00363577" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00052" "00363608" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01650" "00363855" "" "" "" "1" "" "00006" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}" "family" "" "" "Israel" "" "0" "" "" "Aarab, Muslim" "MOL0835" "00363887" "" "" "" "1" "" "00006" "{PMID:Beryozkin 2015:26306921}" "family" "" "" "Israel" "" "0" "" "" "Druze" "MOL1275" "00374958" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W152-1" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00376754" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "14" "00376773" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "37" "00376783" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "49" "00377712" "" "" "" "1" "" "00000" "{PMID:Ostergaard 2010:20805371}" "" "M" "yes" "Faroe Islands" "" "0" "" "" "faroese" "" "00377713" "" "" "" "1" "" "00000" "{PMID:Ostergaard 2010:20805371}" "" "F" "yes" "Faroe Islands" "" "0" "" "" "faroese" "" "00377714" "" "" "" "1" "" "00000" "{PMID:Ostergaard 2010:20805371}" "" "M" "yes" "Faroe Islands" "" "0" "" "" "faroese" "" "00377715" "" "" "" "1" "" "00000" "{PMID:Ostergaard 2010:20805371}" "" "F" "yes" "Faroe Islands" "" "0" "" "" "faroese" "" "00377716" "" "" "" "1" "" "00000" "{PMID:Ostergaard 2010:20805371}" "" "M" "yes" "Faroe Islands" "" "0" "" "" "faroese" "" "00377717" "" "" "" "1" "" "00000" "{PMID:Ostergaard 2010:20805371}" "" "F" "yes" "Faroe Islands" "" "0" "" "" "faroese" "" "00379817" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016101005" "00380126" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Palestine" "" "0" "" "" "" "09DG01682" "00380814" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00381649" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "?" "Saudi Arabia" "" "0" "" "" "" "" "00381688" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00381731" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381880" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "30" "00381954" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "F" "" "Germany" "" "0" "" "" "" "23" "00382246" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "75" "00382511" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "373" "00382512" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "374" "00383797" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184095_B" "00383987" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1393" "00385002" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "yes" "China" "" "0" "" "" "" "19182" "00386164" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-108, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-253" "00386176" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-132, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-289" "00386204" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-159, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-324" "00386217" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-339" "00386227" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-185, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-406" "00386249" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-217, proband" "F" "" "Venezuela" "" "0" "" "" "" "RPN-495" "00386250" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-217, family member" "F" "" "Venezuela" "" "0" "" "" "" "RPN-496" "00386251" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-217, family member" "F" "" "Venezuela" "" "0" "" "" "" "RPN-498" "00386577" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-065" "00386689" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI1048_002075" "00386868" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-070" "00387062" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Other" "88" "00387628" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "13" "00388801" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 43, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "85" "00388895" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 69, central areolar choroidal dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "179" "00389359" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 230, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "643" "00389453" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 283, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "737" "00389505" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 308, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "789" "00389511" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 313, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "795" "00389592" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 364, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "876" "00389637" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 394, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "921" "00389756" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 608, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1040" "00389905" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 878, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1189" "00389911" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 893, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1195" "00390200" "" "" "" "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" "" "" "" "G001041" "00390201" "" "" "" "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" "" "" "" "G001046" "00390202" "" "" "" "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" "" "" "" "G001282" "00390203" "" "" "" "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" "" "" "" "G005206" "00390204" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008998" "00390205" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009848" "00390751" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F8, patient III.1" "F" "" "Tunisia" "" "0" "" "" "" "F8_III.3" "00390814" "" "" "" "4" "" "00000" "{PMID:Arno-2016:27623334}" "" "" "no" "" "" "0" "" "" "Middle East" "" "00390815" "" "" "" "1" "" "00000" "{PMID:Arno-2016:27623334}" "" "" "no" "" "" "0" "" "" "South Asia" "" "00390816" "" "" "" "6" "" "00000" "{PMID:Arno-2016:27623334}" "2 excluded from analysis as coincident oculocutaneus albinism." 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"00413046" "" "" "" "1" "" "00000" "{PMID:Henderson 2010:20087419}" "Family 1, proband" "F" "" "" "" "0" "" "" "" "IV:2" "00413047" "" "" "" "1" "" "00000" "{PMID:Henderson 2010:20087419}" "Family 1, proband\'s brother 3" "M" "" "" "" "0" "" "" "" "IV:8" "00413048" "" "" "" "1" "" "00000" "{PMID:Henderson 2010:20087419}" "Family 1, proband\'s sister" "F" "" "" "" "0" "" "" "" "IV:9" "00413049" "" "" "" "1" "" "00000" "{PMID:Henderson 2010:20087419}" "Family 1, proband\'s brother 4" "M" "" "" "" "0" "" "" "" "IV:10" "00413050" "" "" "" "1" "" "00000" "{PMID:Henderson 2010:20087419}" "Family 2, proband" "M" "" "" "" "0" "" "" "" "II:2" "00413051" "" "" "" "1" "" "00000" "{PMID:Duncan 2012:23044944}" "Family 1, proband" "F" "yes" "" "" "0" "" "" "Palestinian" "IV:1" "00413052" "" "" "" "1" "" "00000" "{PMID:Duncan 2012:23044944}" "Family 1, proband\'s sister 4" "F" "yes" "" "" "0" "" "" "Palestinian" "IV:3" "00413053" "" "" "" "1" "" "00000" "{PMID:Duncan 2012:23044944}" "Family 1, 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"" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family B" "F" "" "Germany" "" "0" "" "" "" "famBpatII:2" "00413069" "" "" "" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family D" "F" "" "Germany" "" "0" "" "" "" "famDpatII:1" "00413070" "" "" "" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family E" "M" "" "Germany" "" "0" "" "" "" "famEpatII:1" "00413071" "" "" "" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family H" "F" "" "Germany" "" "0" "" "" "" "famHpatII:1" "00413072" "" "" "" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family C" "M" "" "Germany" "" "0" "" "" "" "famCpatII:1" "00413073" "" "" "" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family F" "F" "" "Germany" "" "0" "" "" "" "famFpatII:1" "00413074" "" "" "" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family G" "M" "" "Germany" "" "0" "" "" "" "famGpatII:1" "00413075" "" "" "" "1" "" "00000" "{PMID:Stingl 2017:28765526}" "Family I" "M" "" "Germany" "" "0" "" "" "" "famIpatII:1" "00413078" "" "" "" "1" "" 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"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066758" "00450737" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066796" "00450738" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "067254" "00450739" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "067255" "00450740" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "067272" "00450741" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "067312" "00450742" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071072" "00450743" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071082" "00450744" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071378" "00450745" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071525" "00450746" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071786" "00450747" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071796" "00450748" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071798" "00450749" "" "" "" "1" "" "04405" 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"" "" "" "0" "" "" "" "079503" "00451346" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "080613" "00451565" "" "" "" "4" "" "04543" "{PMID:Basharat 2024:38815792}" "6-generation family, 4 affected (4M)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamKPatVI1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 263 "{{individualid}}" "{{diseaseid}}" "00001824" "00112" "00057782" "00381" "00087952" "04213" "00100108" "00381" "00155403" "04214" "00155404" "04214" "00155405" "04214" "00240425" "00381" "00240426" "00381" "00290154" "00198" "00290155" "00198" "00295117" "00198" "00299641" "04214" "00305324" "00198" "00308376" "04214" "00308420" "04214" "00309021" "04214" "00309022" "04214" "00309023" "04214" "00309024" "04214" "00309025" "04214" "00309026" "04214" "00309680" "04214" "00325430" "04214" "00328004" "04214" "00328009" "04214" "00328021" "04214" "00328103" "04214" "00328251" 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"00413083" "04214" "00413084" "04214" "00413085" "04214" "00413086" "04214" "00413087" "04214" "00413088" "04214" "00413195" "04214" "00413196" "04214" "00413197" "04214" "00413198" "04214" "00419694" "04214" "00419695" "04214" "00420546" "04214" "00420558" "04214" "00421381" "04214" "00421382" "04214" "00421383" "04214" "00421384" "04214" "00421385" "04214" "00421386" "04214" "00421387" "04214" "00421388" "04214" "00421389" "04214" "00421390" "04214" "00441657" "00112" "00447012" "00198" "00447164" "00198" "00447174" "00198" "00447177" "00198" "00447181" "00198" "00447270" "00198" "00447559" "00198" "00447569" "00198" "00447582" "00198" "00447620" "00198" "00447662" "00198" "00447663" "00198" "00447685" "00198" "00447709" "00198" "00447710" "00198" "00450734" "04249" "00450735" "04249" "00450736" "04249" "00450737" "04249" "00450738" "04249" "00450739" "04249" "00450740" "04249" "00450741" "04249" "00450742" "04249" "00450743" "04249" "00450744" "04249" "00450745" "04249" "00450746" "04249" "00450747" "04249" "00450748" "04249" "00450749" "04249" "00450750" "04249" "00450751" "04249" "00450752" "04249" "00450753" "04249" "00450754" "04249" "00450755" "04249" "00450756" "04249" "00450757" "04249" "00450758" "04249" "00450759" "04249" "00450760" "04249" "00450761" "04249" "00450762" "04249" "00450763" "04249" "00451157" "04249" "00451178" "04249" "00451242" "04249" "00451288" "04249" "00451339" "04249" "00451346" "04249" "00451565" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 03382, 04124, 04213, 04214, 04249 ## Count = 250 "{{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}}" "0000044431" "00381" "00057782" "01338" "Familial, autosomal recessive" "23y" "" "18y" "23y" "" "" "" "" "" "" "" "" "" "0000067473" "04213" "00087952" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078345" "00381" "00100108" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127903" "04214" "00155403" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127904" "04214" "00155404" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127905" "04214" "00155405" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000233803" "04214" "00308376" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233847" "04214" "00308420" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000234341" "04214" "00309021" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234342" "04214" "00309022" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000234343" "04214" "00309023" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234344" "04214" "00309024" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234345" "04214" "00309025" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234346" "04214" "00309026" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234999" "04214" "00309680" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000243917" "04214" "00325430" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246231" "04214" "00328004" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246236" "04214" "00328009" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246248" "04214" "00328021" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246330" "04214" "00328103" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246478" "04214" "00328251" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246494" "04214" "00328267" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000249485" "04214" "00331291" "00000" "Familial, autosomal recessive" "54y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa cone-rod dystrophy" "" "0000250148" "04214" "00331957" "00000" "Familial, autosomal dominant" "52y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "50y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250149" "04214" "00331958" "00000" "Familial, autosomal dominant" "74y" "reduced visual acuity; scotopic ERG not analyzable; photopic ERG not analyzable" "55y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250150" "04214" "00331959" "00000" "Familial, autosomal recessive" "64y" "metamorphopsia; scotopic ERG normalreduced; photopic ERG borderline" "45y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250151" "04214" "00331960" "00000" "Familial, autosomal dominant" "46y" "metamorphopsia; scotopic ERG normal; photopic ERG borderline" "46y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250152" "04214" "00331961" "00000" "Familial, autosomal recessive" "50y" "metamorphopsia; scotopic ERG normalreduced; photopic ERG borderline" "45y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250153" "04214" "00331962" "00000" "Familial, autosomal dominant" "47y" "reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline" "43y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000251541" "04214" "00333354" "00000" "Familial, autosomal recessive" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251553" "04214" "00333366" "00000" "Unknown" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251996" "04214" "00333811" "00000" "Familial, autosomal recessive" "48y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252078" "04214" "00333893" "00000" "Familial, autosomal recessive" "63y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252079" "04214" "00333894" "00000" "Familial, autosomal recessive" "32y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252106" "04214" "00333921" "00000" "Familial, autosomal recessive" "44y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000252678" "04214" "00334892" "00000" "Familial, autosomal recessive" "" "progressive" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252953" "04214" "00335238" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252970" "04214" "00335255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253356" "04214" "00335410" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253878" "04214" "00335963" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254233" "04214" "00358934" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254238" "04214" "00358939" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254249" "04214" "00358951" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000254272" "04214" "00358974" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254275" "04214" "00358977" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254448" "04214" "00359151" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000257579" "04214" "00362165" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000257639" "04214" "00362225" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258295" "04214" "00362929" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258922" "04214" "00363572" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000258927" "04214" "00363577" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000258958" "04214" "00363608" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259194" "04214" "00363855" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259226" "04214" "00363887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270168" "04214" "00374958" "00000" "Isolated (sporadic)" "31y" "best corrected visual acuity 0.12/0.1" "20y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271965" "04214" "00376754" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "Bone spicule pigmentary clumping in fundus, VA = 20/20–25, peripheral field constriction" "" "0000271984" "04214" "00376773" "00000" "Familial, autosomal dominant" "54y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271994" "04214" "00376783" "00000" "Familial, autosomal dominant" "54y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macular subatrophy, pseudohole" "" "0000272863" "04214" "00377712" "00000" "Familial" "29y" "large inter-ocular differences in visual acuity were observed due to a large scar in the left macula, which was likely caused by a foetal toxoplasmosis infection." "17y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000272864" "04214" "00377713" "00000" "Familial" "36y" "" "17y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000272865" "04214" "00377714" "00000" "Familial" "37y" "The inter-ocular difference in visual acuity, was explained by a left-sided squint in childhood." "17y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000272866" "04214" "00377715" "00000" "Familial" "10y" "oculocutaneous albinism, which caused nystagmus and reduced visual acuity from early infancy." "2y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000272867" "04214" "00377716" "00000" "Familial" "17y" "denied visual difficulty in daylight when examined at the age of 15." "15y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000272868" "04214" "00377717" "00000" "Familial" "6m" "oculocutaneous albinism, which caused nystagmus and reduced visual acuity from early infancy." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000273671" "04214" "00379817" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273981" "04214" "00380126" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274667" "04124" "00380814" "00000" "Familial" "" "Cone-rod dystrophy; visual impairment (Ophthalmological)" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 65" "" "" "0000275491" "04214" "00381649" "00000" "Familial, autosomal recessive" "" "" "28y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275530" "04214" "00381688" "00000" "Familial, autosomal recessive" "" "" "17y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275573" "04214" "00381731" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275722" "04214" "00381880" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275796" "04214" "00381954" "00000" "Familial, autosomal recessive" "35y" "BCVA OD-OS:hand movement; strabismus ; renal insufficiency,hyper-parathyroidism,obesity" "0m" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "" "0000276095" "04214" "00382246" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276360" "04214" "00382511" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276361" "04214" "00382512" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Generalized retinal dystrophy (non-syndromic)" "" "0000277582" "04214" "00383797" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277772" "04214" "00383987" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000278786" "04214" "00385002" "00000" "Isolated (sporadic)" "27y" "no nyctalopia/photophobia, no nystagmus, no oculodigital sign, best corrected visual acuity right/left eye: 0.2/0.3" "4y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000279967" "04214" "00386164" "00000" "Familial, autosomal dominant" "57y" "" "" "40y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000279979" "04214" "00386176" "00000" "Familial, autosomal recessive" "15y" "" "" "12y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000280007" "04214" "00386204" "00000" "Familial, autosomal recessive" "38y" "" "" "24y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280020" "04214" "00386217" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280030" "04214" "00386227" "00000" "Familial, autosomal recessive" "46y" "" "" "36y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280052" "04214" "00386249" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280053" "04214" "00386250" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280054" "04214" "00386251" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280377" "04214" "00386577" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280489" "04214" "00386689" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280668" "04214" "00386868" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280840" "04214" "00387062" "00000" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "" "0000281191" "04214" "00387628" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Adult retinal dystrophy" "" "0000282342" "04214" "00388801" "00000" "Familial, autosomal recessive" "57y" "age at genetic diagnosis mentioned" "" "50y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282436" "04214" "00388895" "00000" "Familial, autosomal recessive" "53y" "age at genetic diagnosis mentioned" "" "50y" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "" "0000282900" "04214" "00389359" "00000" "Familial, autosomal recessive" "53y" "age at genetic diagnosis mentioned" "" "48y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282994" "04214" "00389453" "00000" "Familial, autosomal recessive" "64y" "age at genetic diagnosis mentioned" "" "61y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283046" "04214" "00389505" "00000" "Familial, autosomal recessive" "44y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283052" "04214" "00389511" "00000" "Familial, autosomal recessive" "35y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283133" "04214" "00389592" "00000" "Familial, autosomal recessive" "59y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283178" "04214" "00389637" "00000" "Familial, autosomal recessive" "56y" "age at genetic diagnosis mentioned" "" "55y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283297" "04214" "00389756" "00000" "Isolated (sporadic)" "74y" "age at genetic diagnosis mentioned" "" "67y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283446" "04214" "00389905" "00000" "Isolated (sporadic)" "69y" "age at genetic diagnosis mentioned" "" "65y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283452" "04214" "00389911" "00000" "Isolated (sporadic)" "35y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283738" "04214" "00390200" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283739" "04214" "00390201" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283740" "04214" "00390202" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283741" "04214" "00390203" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283742" "04214" "00390204" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283743" "04214" "00390205" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284239" "04214" "00390751" "00000" "Familial, autosomal recessive" "32y" "Visual acuity right eye/left eye: light perception_light perception, vessel attenuation RPE mottling and spicule deposits from the midretina to the periphery macular atrophy with spicule deposits, macular atrophy" "12y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000284302" "04214" "00390814" "00000" "Familial, autosomal recessive" "" "nyctalopia" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284303" "04214" "00390815" "00000" "Familial, autosomal recessive" "" "nyctalopia" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284304" "04214" "00390816" "00000" "Familial, autosomal recessive" "" "nyctalopia" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284305" "04214" "00390817" "00000" "Familial, autosomal recessive" "" "reduced central vision" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284306" "04214" "00390818" "00000" "Familial, autosomal recessive" "" "Teenage nyctalopia" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284307" "04214" "00390819" "00000" "Familial, autosomal recessive" "" "dischromatopsia y nyctalopia" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284308" "04214" "00390820" "00000" "Familial, autosomal recessive" "" "nyctalopia" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284309" "04214" "00390821" "00000" "Familial, autosomal recessive" "" "nyctalopia" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284310" "04214" "00390822" "00000" "Familial, autosomal recessive" "" "Macular Artrophy" "25y" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284311" "04214" "00390823" "00000" "Familial, autosomal recessive" "" "Macular Artrophy" "20y" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284312" "04214" "00390824" "00000" "Familial, autosomal recessive" "" "Macular Artrophy" "38y" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284313" "04214" "00390825" "00000" "Familial, autosomal recessive" "" "Macular Artrophy" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284314" "04214" "00390826" "00000" "Familial, autosomal recessive" "" "Macular Artrophy" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284315" "04214" "00390827" "00000" "Familial, autosomal recessive" "" "Macular Artrophy" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000284410" "04214" "00390922" "00000" "Unknown" "51y-55y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284486" "04214" "00390998" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "cone dystrophy (COD)" "" "0000284587" "04214" "00391145" "00000" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284588" "04214" "00391146" "00000" "Unknown" "48y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284589" "04214" "00391147" "00000" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284590" "04214" "00391148" "00000" "Unknown" "51y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284591" "04214" "00391149" "00000" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284800" "04214" "00391360" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 65 (613660)" "Retinitis pigmentosa 65 (613660)" "" "0000285834" "04214" "00392587" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to cone-rod dystrophy" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "retinitis pigmentosa" "" "0000285862" "04214" "00392615" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to cone-rod dystrophy" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "retinitis pigmentosa" "" "0000285904" "04214" "00392657" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285917" "04214" "00392670" "00000" "Familial, autosomal recessive" "" "initial diagnosis of autosomal dominant retinitis pigmentosa redifined to cone-rod dystrophy" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "retinitis pigmentosa" "" "0000286696" "04214" "00393490" "00000" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287747" "04214" "00394544" "00000" "Familial, autosomal recessive" "34y" "" "20y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000288819" "04214" "00395621" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity 0.3, 20/40 Snellen equivalent, both eyes. Slightly paler optic discs, moderately attenuated retinal vessels, few pigment deposits peripherally in both eyes and near the optic disc in the right eye, yellowish colored macula were observed in the fundus. fundus autofluorescence: generalized thinning of RPE with punctate salt and pepper-like appearance peripherally and hyperfluorescence in the center of the macula in both eyes. Optical coherence tomography: abnormal foveolar contour with retinal thinning of macular areas in both eyes, centrally and more peripherally located scotomas found on visual field testing, full-field electroretinography: severely affected photopic response- reduced amplitudes and prolonged latencies, scotopic response also pathological although milder." "24y" "" "gradual loss of vision and photophobia" "" "" "" "" "" "retinitis pigmentosa, optic atrophy, cataracts, hearing impairment" "" "" "0000289034" "04214" "00395872" "00000" "Unknown" "66y2m" "" "40y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000289099" "04214" "00395937" "00000" "Unknown" "46y10m" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305025" "04214" "00413044" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000305026" "04214" "00413045" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000305027" "04214" "00413046" "00000" "Familial, autosomal recessive" "42y" "nyctalopia first reported in late teenage years, photophobia in the mid-twenties; visual acuity: 0.1 (LogMAR) in the early 30s, deteriorating to “hand movements” by the early 40s; severe color vision defect, low myopic refractive error; fundus: vessel attenuation, diffuse retinal pigment epithelial changes, sparse bone spicule pigment migration in the retinal periphery in the younger patients; with disease progression - dense pigment migration and atrophy both at the macula and in the periphery; electroretinography: both rod and cone respo" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305028" "04214" "00413047" "00000" "Familial, autosomal recessive" "40y" "nyctalopia first reported in late teenage years, photophobia in the mid-twenties; visual acuity: 0.1 (LogMAR) in the early 30s, deteriorating to “hand movements” by the early 40s; severe color vision defect, low myopic refractive error; fundus: vessel attenuation, diffuse retinal pigment epithelial changes, sparse bone spicule pigment migration in the retinal periphery in the younger patients; with disease progression - dense pigment migration and atrophy both at the macula and in the periphery; electroretinography: both rod and cone respo" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305029" "04214" "00413048" "00000" "Familial, autosomal recessive" "34y" "nyctalopia first reported in late teenage years, photophobia in the mid-twenties; visual acuity: 0.1 (LogMAR) in the early 30s, deteriorating to “hand movements” by the early 40s; severe color vision defect, low myopic refractive error; fundus: vessel attenuation, diffuse retinal pigment epithelial changes, sparse bone spicule pigment migration in the retinal periphery in the younger patients; with disease progression - dense pigment migration and atrophy both at the macula and in the periphery; electroretinography: both rod and cone respo" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305030" "04214" "00413049" "00000" "Familial, autosomal recessive" "32y" "nyctalopia first reported in late teenage years, photophobia in the mid-twenties; visual acuity: 0.1 (LogMAR) in the early 30s, deteriorating to “hand movements” by the early 40s; severe color vision defect, low myopic refractive error; fundus: vessel attenuation, diffuse retinal pigment epithelial changes, sparse bone spicule pigment migration in the retinal periphery in the younger patients; with disease progression - dense pigment migration and atrophy both at the macula and in the periphery; electroretinography in this patient: cone–rod pattern of d" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305031" "04214" "00413050" "00000" "Familial, autosomal recessive" "30y" "30y, best corrected visual acuity: 0.2 (LogMAR) in each eye, 44y: 1.5, 46: hand movements; refraction: −5 diopters spherical equivalent; color vision: very abnormal at the initial examination; fundus: 32y early retinal pigment epithelium depigmentation at the macula; circular patches of pigment epithelial atrophy both at the macula and in the periphery associated with pigment migration and vessel attenuation; 46y: Goldmann visual field: residual peripheral islands of vision to the largest and brightest targets (V4e and III4e); 34y: electroretinogram: no detectable rod or cone responses in either e" "18y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305032" "04214" "00413051" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: 20/1008, 20/800; refraction right; left eye: -11.00 DS, -11.00 DS; axial length: 23.29, 23.31; color vision: TCDS/CCI: 449.5/3.84, 382.4/3.27, glare and photosensitivity during childhood; nyctalopia in adolescence; decreased contrast sensitivity, peripheral vision, and color vision loss in the third decade of life; and visual acuity loss in the fourth decade; color vision: abnormal, showed diffuse color defects; bull\'s eye pattern of retinal pigment epithelial atrophy in the macula and circular patches of retinal pigment epithelial atrophy anterior to the arcades, with retinal vascular attenuation and bone spicule pigmentation; glaucoma with an enlarged cup-disc ratio in each eye and mildly elevated intraocular pressure (21-24 mm Hg) beginning at 40y; visual fields: peripheral islands of vision temporally and inferiorly with central vision loss; spectral domain optical coherence tomography: a vertical scan was obtained as close as possible to the anatomic fovea:hinning and loss of the outer nuclear, inner and outer segment layers; hyperreflective lesions within the attenuated outer nuclear layer in regions where the inner segment ellipsoid portion or inner segment-outer segment junction and external to the external limiting membrane and inner segment ellipsoid or inner segment-outer segment junction was not observed; adaptive optics scanning laser ophthalmoscopy: visual fixation not stable enough in patients" "45y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305033" "04214" "00413052" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: 20/25, 20/25; refraction right; left eye: -2.00+1.00x120, -2.00+1.25x085; axial length: 23.70, 23.70; color vision: TCDS/CCI: unable, glare and photosensitivity during childhood; nyctalopia in adolescence; decreased contrast sensitivity, peripheral vision, and color vision loss in the third decade of life; and visual acuity loss in the fourth decade; color vision: abnormal, showed diffuse color defects; bull\'s eye pattern of retinal pigment epithelial atrophy in the macula and circular patches of retinal pigment epithelial atrophy anterior to the arcades, with retinal vascular attenuation and bone spicule pigmentation; visual fields: severe constriction with small central islands; spectral domain optical coherence tomography: horizontal scans through the anatomic fovea in each eye: thinning and loss of the outer nuclear, inner and outer segment layers, the outer retinal layers relatively preserved in the area surrounding the anatomic fovea; hyperreflective les within the attenuated outer nuclear layer in regions where the inner segment ellipsoid portion or inner segment-outer segment junction and external to the external limiting membrane and inner segment ellipsoid or inner segment-outer segment junction was not observed; adaptive optics scanning laser ophthalmoscopy: visual fixation not stable enough in patients" "36y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305034" "04214" "00413053" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: 20/40, 20/100; refraction right; left eye: -11.00+3.00x100, -10.50+3.00x085; axial length: 24.73, 24.87; color vision: TCDS/CCI: 335.9/2.87, 347.6/2.97, glare and photosensitivity during childhood; nyctalopia in adolescence; decreased contrast sensitivity, peripheral vision, and color vision loss in the third decade of life; and visual acuity loss in the fourth decade; 32y: retained visual acuity of 20/40 right eye; left eye reduced to 20/100; color vision: abnormal, showed diffuse color defects; bull\'s eye pattern of retinal pigment epithelial atrophy in the macula and circular patches of retinal pigment epithelial atrophy anterior to the arcades, with retinal vascular attenuation and bone spicule pigmentation; visual fields: severe constriction with small central islands; spectral domain optical coherence tomography: horizontal scans through the anatomic fovea in each eye: thinning and loss of the outer nuclear, inner and outer segment layers, the outer retilayers relatively preserved in the area surrounding the anatomic fovea; hyperreflective lesions within the attenuated outer nuclear layer in regions where the inner segment ellipsoid portion or inner segment-outer segment junction was not observed; adaptive optics scanning laser ophthalmoscopy: coarse cone mosaics near the fovea, with increased cone spacing and reduced cone density, where cone mosaics were observed, permitting quantitative analysis, cone spacing was increased by 5 to 6 SDs above the normal mean" "32y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305035" "04214" "00413054" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 6/120 both eyes; refraction right, left eye: -11,-13; color vision (Ishihara): 1st panel not seen (both eyes) ; 23y:full field electroretinography right, left eye: light adaptation, single flash: non-recordable, flicker (30Hz): not determined, dark adaptation: a 0 b 80, a 0 b 50" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305036" "04214" "00413055" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right, left eye: 6/120 both eyes; refraction right, left eye: not determined; color vision (Ishihara): 1st panel not seen (both eyes) ; 30y: full field electroretinography right, left eye: light adaptation, single flash: non-recordable, flicker (30Hz): non-recordable, not determined, dark adaptation: a 0 b 17, not determined" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305037" "04214" "00413056" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity and refraction right / left eye: 20/60 both eyes (-4.75/-1.25x30, -3.75/-1.00x160); color vision: right eye: 1/17, left eye: 2/17; fundus: retinal pigment epithelium changes at the macula; normally appearing peripheral retina; electroretinography: undetectable pattern electroretinogram; scotopic bright flash electroretinogram is markedly delayed and subnormal; severely delayed and reduced cone responses.; visual field: relatively large central scotoma; the left eye shows smaller paracentral islands of sensitivity loss" "" "" "progressive loss of central vision; photophobia" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305038" "04214" "00413057" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity and refraction right / left eye: 20/60 both eyes, low myopia; color vision: both eyes: 0/17; fundus: subtle retinal pigment epithelium atrophic changes at the center of both maculae; electroretinography: undetectable pattern electroretinogram; scotopic bright flash electroretinogram is markedly delayed and subnormal; severely delayed and reduced cone responses.; visual field: normal fields" "" "" "reduced visual acuity, color blindness, photophobia" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305039" "04214" "00413058" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity and refraction right / left eye: 20/40 both eyes, myopia; color vision: both eyes: 1/17; fundus: elevated, pigmented macular lesion; normally appearing peripheral retina; electroretinography: pattern electroretinogram: severely reduced; scotopic bright flash electroretinogram is moderately subnormal; severely delayed and reduced cone responses; visual field: left central and paracentral relative scotomata to static stimuli only, right eye - a small relative scotoma" "" "" "difficulty reading" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305040" "04214" "00413059" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305041" "04214" "00413060" "00000" "Familial, autosomal recessive" "" "disease course: progressive loss of visual acuity (33y), night blindness (33y) and field constriction (34y); best corrected visual acuity right/left eye: 0.8/0.7; visual field: tubular with a small island of central vision and a temporal island (42y), absolute scotoma (45y); electroretinography: full field was non-recordable and multifocal electroretinogram amplitude was decreased in all records ; fundus aspect: pale optic disc, narrow vessels, scarce bone spicule pigmentation in mid-periphery, yellowish dots in macula and bull’s eye maculopathy; 28 HUE Farnsworth or Ishihara test: non-specific mild abnormalities; optical coherence tomography: decreased foveal depression; additional findings: posterior subcapsular catara" "30y" "" "photophobia, photopsia and color disturbances" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305042" "04214" "00413061" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right/left eye: 0.2/1.0 (49 yrs); visual field: tubular with temporal islands; electroretinogram: non-recordable fundus aspect: pale optic disc, narrow vessels and bone spicule pigmentation in mid-periphery" "26y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305043" "04214" "00413062" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right/left eye: 0.12/1.0; visual field: relative central scotoma and some peripheral islands ; electroretinography: no clinical data ; fundus aspect: small optic disc, unstructured macula and atrophy in the periphery ; 28 HUE Farnsworth or Ishihara test: altered optical coherence tomography: no clinical data; additional findings: superficial punctate keratitis" "32y" "" "color disturbances and field constriction (32y)" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305044" "04214" "00413063" "00000" "Familial, autosomal recessive" "39y" "best corrected visual acuity right, left eye: 20/1300, 20/1300; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses nearly extinguished; visual field: see imagefundus: see image; additional changes: subcapsular cataract" "9y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305045" "04214" "00413064" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity right, left eye: hand movements / counting fingers; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses extinguished; visual field: not measurablefundus: see image; additional changes: subcapsular cataract" "14y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305046" "04214" "00413065" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right, left eye: hand movements / hand movements; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses extinguished; visual field: not measurablefundus: see image; additional changes: subcapsular cataract" "14y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305047" "04214" "00413066" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right, left eye: hand movements / hand movements; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses extinguished; visual field: not measurablefundus: see image; additional changes: subcapsular cataract" "12y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305048" "04214" "00413067" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right, left eye: 20/50, 20/80; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses extinguished; visual field: central scotomafundus: geographic atrophy of the macula, pigment loss, tigroid appearance, retinal vessel attentuation; additional changes: subcapsular cataract" "<18y" "" "decrease of visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305049" "04214" "00413068" "00000" "Familial, autosomal recessive" "25y" "best corrected visual acuity right, left eye: 20/70, 20/80; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod ERG not detectable, mixed cone-rod ERG reduced, cone ERG not detectable; visual field: central scotomafundus: changes of the retinal pigment epithelium in the macula, optic berve apllor, no pigmentary changes in the periphery, retinal vessel attentuation; additional changes: subcapsular cataract" ">12y" "" "decrease of visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305050" "04214" "00413069" "00000" "Familial, autosomal recessive" "51y" "best corrected visual acuity right, left eye: 20/32, 20/40; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod responses normal, cone responses reduced; visual field: central scotomafundus: macular atrophy; additional changes: subcapsular cataract" "17y" "" "color vision problem" "" "" "" "" "" "cone dystrophy" "" "" "0000305051" "04214" "00413070" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right, left eye: 20/400, 20/63; night blindness: no, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod responses normal, cone responses reduced; visual field: central scotomafundus: see image; additional changes: subcapsular cataract" "38y" "" "decrease of visual acuity" "" "" "" "" "" "cone dystrophy" "" "" "0000305052" "04214" "00413071" "00000" "Familial, autosomal recessive" "61y" "best corrected visual acuity right, left eye: 20/40, 20/40; night blindness: no, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses normal, multifocal electroretinogram responses reduced; visual field: limitation of the peripheral field, pericentral scotomafundus: macular atrophy; additional changes: subcapsular cataract" "59y" "" "decrease of visual acuity" "" "" "" "" "" "cone dystrophy" "" "" "0000305053" "04214" "00413072" "00000" "Familial, autosomal recessive" "54y" "best corrected visual acuity right, left eye: light perception, 20/40; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses extinguished; visual field: ring scotomafundus: see image; additional changes: subcapsular cataract" "20y" "" "asymptomatic, incidental finding" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305054" "04214" "00413073" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right, left eye: 20/32, 20/25; night blindness: yes, photophobia: no, color vision defect: no; full-field electroretinogram: rod and cone responses very reduced; visual field: ring scotomafundus: absent foveolar reflex; additional changes: subcapsular cataract" "20y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305055" "04214" "00413074" "00000" "Familial, autosomal recessive" "71y" "best corrected visual acuity right, left eye: 20/40, 20/40; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses extinguished; visual field: ring scotomafundus: bulls-eye-like macular atrophy; additional changes: subcapsular cataract" "50y" "" "asymptomatic, incidental finding" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305056" "04214" "00413075" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right, left eye: 20/40, 20/32; night blindness: yes, photophobia: yes, color vision defect: yes; full-field electroretinogram: rod and cone responses extinguished; visual field: ring scotomafundus: macular pucker; additional changes: subcapsular cataract" "<18y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305059" "04214" "00413078" "00000" "Familial, autosomal recessive" "65y" "best corrected visual acuity right, left eye: 20/30 + 2, 20/30-2; color (Ishihara plates) right, left eye: 9/10, 10/10; Goldmann visual field: generalized constriction; fundus: mild disc pallor, small areas of retinal pigment epithelium atrophy in macula, diffuse peripheral retinal pigment epithelium atrophy with few bone spicules, arteriolar attenuation; electroretinogram: not available" "" "55y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305060" "04214" "00413079" "00000" "Familial, autosomal recessive" "39y" "best corrected visual acuity right, left eye: 20/60, 20/70; color (Ishihara plates): not available; Goldmann visual field: generalized constriction; fundus: areas of retinal pigment epithelium atrophy (geographic) and mottling in macula with retinal pigment epithelium atrophy along arcades and in periphery with few areas of hyperpigmentation and peripheral areas of lobular retinal pigment epithelium loss, arteriolar attenuation; electroretinogram: decreased cone-and rod responses" "" "31y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305061" "04214" "00413080" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right, left eye: 20/20 OS 20/25-2; color (Ishihara plates): both eyes: 10/10; Goldmann visual field: mild nasal constriction; fundus: bull\'s eye retinal pigment epithelium atrophy in macula; electroretinogram: decreased cone-and rod responses" "" "30y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305062" "04214" "00413081" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity right, left eye: 20/50 OS 20/50+1; color (Ishihara plates): both eyes: test plate only; Goldmann visual field: mild nasal constriction; fundus: mild pallor right>left eye, retinal pigment epithelium atrophy in macula, arteriolar attenuation, few areas of circular retinal pigment epithelium atrophy in periphery ; electroretinogram: decreased cone-and rod responses" "" "44y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305063" "04214" "00413082" "00000" "Familial, autosomal recessive" "45y" "no nyctalopia; in the fourth decade of life visual acuity markedly decreased, colour vision severely impaired; fundus photographs and fundus autofluorescence photographs: attenuated vessels, absence of the foveal reflex, punctated salt- and pepper-like appearance, circular patches of retinal pigment epithelium atrophy both at the macula and in the periphery with associated peripheral pigment migration, hyperautofluorescent ring surrounding a central area of hypoautofluorescence and an atrophic macular region; electroretinogram: markedly reduced rod-and-cone responses" "24y" "" "adaptation difficulties, trouble with colour vision and light sensitivity" "" "" "" "" "" "macular/cone-rod dystrophy" "optic atrophy" "" "0000305064" "04214" "00413083" "00000" "Familial, autosomal recessive" "59y" "best-corrected visual acuity (BCVA) right/left eye: 1.2/1.5; full-field electroretinograms revealed a generalized cone-rod pattern of dysfunction; 58y: severely deteriorated to 0.03/0.03; fundus: macular atrophy, diffuse retinal degeneration; fundus autofluorescence: hypo-autofluorescence in the macular area along with arcade vessels, more severe than in brother; optical coherence tomography: apparent thinning of the retina and disruption of the ellipsoid zone; Goldmann visual fields: central scotomas (larger than in brother); electroretinograms: nonrecordable under both scotopic and photopic conditions" ">30y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305065" "04214" "00413084" "00000" "Familial, autosomal recessive" "62y" "best-corrected visual acuity (BCVA) right/left eye: 1.0/1.0; full-field electroretinograms revealed a generalized cone-rod pattern of dysfunction; 62y: 0.6 / 0.1; fundus: macular atrophy; fundus autofluorescence: hypo-autofluorescence in the macular area along with arcade vessels; optical coherence tomography: apparent thinning of the retina and disruption of the ellipsoid zone, retinal pigment epithelium relatively preserved around the parafoveal area; Goldmann visual fields: central scotomas; electroretinograms: reduced, but detectable, scotopic responses" ">30y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305066" "04214" "00413085" "00000" "Familial, autosomal recessive" "" "current symptoms: metamorphopsiabest corrected visual acuity right, left eye: 20/20, 20/20; refraction: 4.0/1.25, 3.0/1.0; fundus: bull\'s-eye maculopathy, paracentral yellowish-brownish flecks; optical coherence tomography: paracentral irregularity in the ellipsoid and retinal pigment epithelium bands, slight thinning of the photoreceptor layer; fundus autofluorescence: paracentral slightly decreased autofluorescence, some flecks of decreased and increased autofluorescence; visual field: Humphrey 308: relative paracentral scotoma; electroretinogram: borderline low photopic responses, scotopic responses within normal limi" "45y" "" "metamorphopsia" "" "" "" "" "" "macular dystrophy" "" "" "0000305067" "04214" "00413086" "00000" "Familial, autosomal recessive" "" "current symptoms: mild patchy vision right eyebest corrected visual acuity right, left eye: 20/20, 20/20; refraction: not performer; fundus: bull\'s-eye maculopathy, paracentral yellowish-brownish flecks; optical coherence tomography: paracentral irregularity in the ellipsoid and retinal pigment epithelium bands, slight thinning of the photoreceptor layer; fundus autofluorescence: paracentral slightly decreased autofluorescence, some flecks of decreased and increased autofluorescence; visual field: not performed; electroretinogram: photopic and scotopic responses within normal limi" "40y" "" "reading difficulties" "" "" "" "" "" "macular dystrophy" "" "" "0000305068" "04214" "00413087" "00000" "Familial, autosomal recessive" "" "current symptoms: reduced visual acuity, glare, poor reading ability, reduced color visionbest corrected visual acuity right, left eye: 20/50, 20/80; refraction: 2.0/0.25, 2.5/1.5; fundus: macula with paracentral atrophy of the retinal pigment epithelium/outer retina; optical coherence tomography: paracentral atrophy of the outer nuclear layer, foveal sparing; fundus autofluorescence: low autofluorescence within area of atrophy, surrounding ringlike increase of autofluorescence; visual field: not performed; electroretinogram: photopic responses reduced, scotopic responses within normal limits" "45y" "" "glare" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305069" "04214" "00413088" "00000" "Familial, autosomal recessive" "" "current symptoms: nyctalopia, glare, reduced visual acuitybest corrected visual acuity right, left eye: 20/600, counting fingers; refraction: not performed (bilateral corneal graft for keratoconus); fundus: macular chorioretinal atrophy, narrowed vessels, midperipheral and peripheral outer retinal atrophy with bone spicule pigmentations ; optical coherence tomography: central atrophy of the outer retina; surrounding retina shows severe thinning of the outer nuclear layer ; fundus autofluorescence: low autofluorescence within central area of atrophy, surrounding ringlike of autofluorescence, periphery with diffuse decrease o autofluorescence ; visual field: Goldmann III/4 concentric restriction; electroretinogram: photopic and scotopic responses extinguished" "25y" "" "nyctalopia" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305176" "04214" "00413195" "00000" "Familial, autosomal recessive" "" "current symptoms: metamorphopsiabest corrected visual acuity right, left eye: 20/20, 20/20; refraction: 4.0/1.25, 3.0/1.0; fundus: bull\'s-eye maculopathy, paracentral yellowish-brownish flecks; optical coherence tomography: paracentral irregularity in the ellipsoid and retinal pigment epithelium bands, slight thinning of the photoreceptor layer; fundus autofluorescence: paracentral slightly decreased autofluorescence, some flecks of decreased and increased autofluorescence; visual field: Humphrey 308: relative paracentral scotoma; electroretinogram: borderline low photopic responses, scotopic responses within normal limi" "45y" "" "metamorphopsia" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305177" "04214" "00413196" "00000" "Familial, autosomal recessive" "" "current symptoms: mild patchy vision right eyebest corrected visual acuity right, left eye: 20/20, 20/20; refraction: not performer; fundus: bull\'s-eye maculopathy, paracentral yellowish-brownish flecks; optical coherence tomography: paracentral irregularity in the ellipsoid and retinal pigment epithelium bands, slight thinning of the photoreceptor layer; fundus autofluorescence: paracentral slightly decreased autofluorescence, some flecks of decreased and increased autofluorescence; visual field: not performed; electroretinogram: photopic and scotopic responses within normal limi" "40y" "" "reading difficulties" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305178" "04214" "00413197" "00000" "Familial, autosomal recessive" "" "current symptoms: reduced visual acuity, glare, poor reading ability, reduced color visionbest corrected visual acuity right, left eye: 20/50, 20/80; refraction: 2.0/0.25, 2.5/1.5; fundus: macula with paracentral atrophy of the retinal pigment epithelium/outer retina; optical coherence tomography: paracentral atrophy of the outer nuclear layer, foveal sparing; fundus autofluorescence: low autofluorescence within area of atrophy, surrounding ringlike increase of autofluorescence; visual field: not performed; electroretinogram: photopic responses reduced, scotopic responses within normal limits" "45y" "" "glare" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305179" "04214" "00413198" "00000" "Familial, autosomal recessive" "" "current symptoms: nyctalopia, glare, reduced visual acuitybest corrected visual acuity right, left eye: 20/600, counting fingers; refraction: not performed (bilateral corneal graft for keratoconus); fundus: macular chorioretinal atrophy, narrowed vessels, midperipheral and peripheral outer retinal atrophy with bone spicule pigmentations ; optical coherence tomography: central atrophy of the outer retina; surrounding retina shows severe thinning of the outer nuclear layer ; fundus autofluorescence: low autofluorescence within central area of atrophy, surrounding ringlike of autofluorescence, periphery with diffuse decrease o autofluorescence ; visual field: Goldmann III/4 concentric restriction; electroretinogram: photopic and scotopic responses extinguished" "25y" "" "nyctalopia" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310974" "04214" "00419694" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000310975" "04214" "00419695" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311794" "04214" "00420546" "00000" "Familial, autosomal recessive" "46y10m" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311806" "04214" "00420558" "00000" "Familial, autosomal recessive" "66y2m" "" "40y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000312620" "04214" "00421381" "00000" "Familial, autosomal recessive" "63y" "best corrected visual acuity right, left eye: 6/12, 6/9; pattern electroretinography: undetectable; electroretinography: normal; multifocal electroretinography: bilaterally subnormal with relative sparing of the central response on the left; fundus appearance: outer retinal atrophy, macular hypopigmentation; peripapillary atrophy" "41y" "" "difficulty with night vision, blind spots in the central field" "" "" "" "" "" "late-onset macular dystrophy" "" "" "0000312621" "04214" "00421382" "00000" "Familial, autosomal recessive" "73y" "best corrected visual acuity right, left eye: 6/9, 6/18; pattern electroretinography: undetectable; electroretinography: dark adapted 10 electroretinogram a wave & light adapted electroretinograms: borderline amplitudes & normal peak time; multifocal electroretinography: bilaterally subnormal over central region; fundus appearance: outer retinal atrophy, macular hypopigmentation; peripapillary atrophy" "40y" "" "reduced central vision, constant photopsias, photoaversion" "" "" "" "" "" "late-onset macular dystrophy" "" "" "0000312622" "04214" "00421383" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right, left eye: 6/9, 6/12; pattern electroretinography: undetectable; electroretinography: normal; multifocal electroretinography: not performed; fundus appearance: outer retinal atrophy, macular hypopigmentation" "34y" "" "difficulty reading and recognising faces, dyschromatopsia" "" "" "" "" "" "late-onset macular dystrophy" "" "" "0000312623" "04214" "00421384" "00000" "Familial, autosomal recessive" "46y" "best corrected visual acuity right, left eye: 6/5, 6/5; pattern electroretinography: delayed & subnormal; electroretinography: dark adapted 10 electroretinogram awave & light adapted electroretinograms: borderline amplitudes & normal peak time; multifocal electroretinography: not performed; fundus appearance: small, yellow flecks at the macula; blunt foveal reflex" "42y" "" "metamorphopsia, photoaversion" "" "" "" "" "" "late-onset macular dystrophy" "" "" "0000312624" "04214" "00421385" "00000" "Familial, autosomal recessive" "41y" "best corrected visual acuity right, left eye: 6/5, 6/6; pattern electroretinography: delayed & subnormal; electroretinography: normal; multifocal electroretinography: bilaterally subnormal with relative sparing of the eccentric responses; fundus appearance: sharply demarcated outer retinal atrophic lesions in the macula with foveal sparing" "40y" "" "difficulty transitioning from light to dark" "" "" "" "" "" "late-onset macular dystrophy" "" "" "0000312625" "04214" "00421386" "00000" "Familial, autosomal recessive" "72y" "best corrected visual acuity right, left eye: 6/60, 6/60; pattern electroretinography: undetectable; electroretinography: normal; multifocal electroretinography: bilaterally subnormal with relative sparing of the eccentric responses; fundus appearance: extensive macular atrophy" "58y" "" "difficulty reading, could not play ball sports under dusk-like illumination during childhood" "" "" "" "" "" "late-onset macular dystrophy" "" "" "0000312626" "04214" "00421387" "00000" "Familial, autosomal recessive" "64y" "best corrected visual acuity right, left eye: 6/36, 6/24; pattern electroretinography: undetectable; electroretinography: normal; multifocal electroretinography: not performed; fundus appearance: outer retinal atrophy, macular hypopigmentation; peripapillary atrophy; relative foveal sparing in left eye" "40y" "" "difficulty with central vision" "" "" "" "" "" "late-onset macular dystrophy" "" "" "0000312627" "04214" "00421388" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity right, left eye: light perception; fundus: retinal vascular attenuation, retinal pigment epithelial degeneration" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312628" "04214" "00421389" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: not available; fundus: retinal vascular attenuation, retinal pigment epithelial degeneration" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312629" "04214" "00421390" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 20/25, 20/20; fundus: retinal vascular attenuation, retinal pigment epithelial degeneration" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000331072" "00112" "00441657" "04542" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336211" "00198" "00447012" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336363" "00198" "00447164" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336373" "00198" "00447174" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336376" "00198" "00447177" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336380" "00198" "00447181" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336469" "00198" "00447270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336758" "00198" "00447559" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336768" "00198" "00447569" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336781" "00198" "00447582" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336819" "00198" "00447620" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336861" "00198" "00447662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336862" "00198" "00447663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336884" "00198" "00447685" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336908" "00198" "00447709" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336909" "00198" "00447710" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000339789" "04249" "00450734" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339790" "04249" "00450735" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339791" "04249" "00450736" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339792" "04249" "00450737" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339793" "04249" "00450738" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339794" "04249" "00450739" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339795" "04249" "00450740" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339796" "04249" "00450741" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339797" "04249" "00450742" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339798" "04249" "00450743" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339799" "04249" "00450744" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339800" "04249" "00450745" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal pigment epithelium dystrophy" "" "0000339801" "04249" "00450746" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339802" "04249" "00450747" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339803" "04249" "00450748" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339804" "04249" "00450749" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339805" "04249" "00450750" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000339806" "04249" "00450751" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339807" "04249" "00450752" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339808" "04249" "00450753" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339809" "04249" "00450754" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339810" "04249" "00450755" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339811" "04249" "00450756" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339812" "04249" "00450757" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339813" "04249" "00450758" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339814" "04249" "00450759" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339815" "04249" "00450760" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339816" "04249" "00450761" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339817" "04249" "00450762" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339818" "04249" "00450763" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340240" "00198" "00451565" "04543" "Familial, autosomal recessive" "20y" "no night vision; no perception of light; normal color vision; no nystagmus; no corneal haze; no photophobia" "<4y" "" "" "" "" "" "" "" "RP73" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 263 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001627" "00001824" "1" "00102" "00102" "2013-08-08 23:22:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000057743" "00057782" "1" "01338" "01338" "2016-01-20 12:17:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000088092" "00087952" "1" "00039" "00039" "2012-09-18 13:58:23" "" "" "SEQ" "DNA" "" "" "0000100512" "00100108" "1" "01769" "01769" "2017-01-30 20:27:17" "" "" "SEQ" "DNA" "WBC" "" "0000156268" "00155403" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156269" "00155404" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156270" "00155405" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000241535" "00240425" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000241536" "00240426" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000291322" "00290154" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291323" "00290155" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296285" "00295117" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000306453" "00305324" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309520" "00308376" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309564" "00308420" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000310166" "00309021" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310167" "00309022" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310168" "00309023" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310169" "00309024" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310170" "00309025" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310171" "00309026" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310825" "00309680" "1" "00004" "00006" "2020-08-31 19:33:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000326641" "00325430" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329219" "00328004" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329224" "00328009" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329236" "00328021" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329318" "00328103" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329466" "00328251" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329482" "00328267" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332511" "00331291" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000333176" "00331957" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333177" "00331958" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333178" "00331959" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333179" "00331960" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333180" "00331961" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333181" "00331962" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000334579" "00333354" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334591" "00333366" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335037" "00333811" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335119" "00333893" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335120" "00333894" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335147" "00333921" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336121" "00334892" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336467" "00335238" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000336484" "00335255" "1" "00006" "00006" "2021-03-04 14:12:39" "00006" "2021-03-04 14:19:32" "RT-PCR;SEQ-NG" "DNA;RNA" "" "212-gene panel" "0000336639" "00335410" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000337193" "00335963" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360167" "00358934" "1" "00000" "00006" "2021-03-17 15:00:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000360172" "00358939" "1" "00006" "00006" "2021-03-17 16:44:10" "" "" "SEQ" "DNA" "" "" "0000360188" "00358951" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360211" "00358974" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360214" "00358977" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360389" "00359151" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363394" "00362165" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000363454" "00362225" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" "" "0000364157" "00362929" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364800" "00363572" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364805" "00363577" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364836" "00363608" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365083" "00363855" "1" "00006" "00006" "2021-04-30 13:00:08" "" "" "SEQ" "DNA" "" "" "0000365115" "00363887" "1" "00006" "00006" "2021-04-30 16:30:35" "" "" "SEQ" "DNA" "" "" "0000376152" "00374958" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377960" "00376754" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377979" "00376773" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377989" "00376783" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378916" "00377712" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA;RNA" "blood; cultured fibroblasts" "" "0000378917" "00377713" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA;RNA" "blood; cultured fibroblasts" "" "0000378918" "00377714" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA;RNA" "blood; cultured fibroblasts" "" "0000378919" "00377715" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA;RNA" "blood; cultured fibroblasts" "" "0000378920" "00377716" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA;RNA" "blood; cultured fibroblasts" "" "0000378921" "00377717" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR" "DNA;RNA" "blood; cultured fibroblasts" "" "0000381019" "00379817" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381328" "00380126" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000382028" "00380814" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000382865" "00381649" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382904" "00381688" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382947" "00381731" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383096" "00381880" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383170" "00381954" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383460" "00382246" "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" "0000383725" "00382511" "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" "0000383726" "00382512" "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" "0000385022" "00383797" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385212" "00383987" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000386231" "00385002" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000387393" "00386164" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387405" "00386176" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387433" "00386204" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387446" "00386217" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387456" "00386227" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387478" "00386249" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387479" "00386250" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387480" "00386251" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387805" "00386577" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387917" "00386689" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388096" "00386868" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388288" "00387062" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388854" "00387628" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000390044" "00388801" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390138" "00388895" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390602" "00389359" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390696" "00389453" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390748" "00389505" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390754" "00389511" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390835" "00389592" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390880" "00389637" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390999" "00389756" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000391148" "00389905" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391154" "00389911" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391441" "00390200" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391442" "00390201" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391443" "00390202" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391444" "00390203" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391445" "00390204" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391446" "00390205" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391992" "00390751" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392055" "00390814" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392056" "00390815" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392057" "00390816" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392058" "00390817" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392059" "00390818" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392060" "00390819" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392061" "00390820" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392062" "00390821" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE;PCR;SEQ" "DNA" "blood" "" "0000392063" "00390822" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "blood" "" "0000392064" "00390823" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "blood" "" "0000392065" "00390824" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "blood" "" "0000392066" "00390825" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "blood" "" "0000392067" "00390826" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "blood" "" "0000392068" "00390827" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PE" "DNA" "blood" "" "0000392163" "00390922" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392239" "00390998" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392387" "00391145" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392388" "00391146" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392389" "00391147" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392390" "00391148" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392391" "00391149" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392602" "00391360" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000393834" "00392587" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393862" "00392615" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393904" "00392657" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393917" "00392670" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394738" "00393490" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000395791" "00394544" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396859" "00395621" "1" "00000" "03840" "2021-12-08 14:58:54" "" "" "SEQ-NG-I" "DNA" "" "140 genes associated with inherited retinal diseases" "0000397111" "00395872" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397176" "00395937" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000414315" "00413044" "1" "00000" "03840" "2022-07-08 15:27:33" "" "" "SEQ" "DNA" "" "" "0000414316" "00413045" "1" "00000" "03840" "2022-07-08 15:27:33" "" "" "SEQ" "DNA" "" "" "0000414317" "00413046" "1" "00000" "03840" "2022-07-08 20:51:04" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414318" "00413047" "1" "00000" "03840" "2022-07-08 20:51:04" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414319" "00413048" "1" "00000" "03840" "2022-07-08 20:51:04" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414320" "00413049" "1" "00000" "03840" "2022-07-08 20:51:04" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414321" "00413050" "1" "00000" "03840" "2022-07-08 20:51:04" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414322" "00413051" "1" "00000" "03840" "2022-07-10 12:21:24" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414323" "00413052" "1" "00000" "03840" "2022-07-10 12:21:24" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414324" "00413053" "1" "00000" "03840" "2022-07-10 12:21:24" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414325" "00413054" "1" "00000" "03840" "2022-07-10 13:57:34" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414326" "00413055" "1" "00000" "03840" "2022-07-10 13:57:34" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414327" "00413056" "1" "00000" "03840" "2022-07-10 20:39:58" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000414328" "00413057" "1" "00000" "03840" "2022-07-10 20:39:58" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000414329" "00413058" "1" "00000" "03840" "2022-07-10 20:39:58" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000414330" "00413059" "1" "00000" "03840" "2022-07-11 10:01:45" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000414331" "00413060" "1" "00000" "03840" "2022-07-11 10:01:45" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000414332" "00413061" "1" "00000" "03840" "2022-07-11 10:01:45" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000414333" "00413062" "1" "00000" "03840" "2022-07-11 10:01:45" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000414334" "00413063" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414335" "00413064" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414336" "00413065" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414337" "00413066" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "arraySNP;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414338" "00413067" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414339" "00413068" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414340" "00413069" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414341" "00413070" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414342" "00413071" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414343" "00413072" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414344" "00413073" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414345" "00413074" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414346" "00413075" "1" "00000" "03840" "2022-07-11 11:39:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel: 105 retinal disease genes" "0000414348" "00413078" "1" "00000" "03840" "2022-07-11 12:14:39" "" "" "?" "DNA" "" "retrospective case series" "0000414349" "00413079" "1" "00000" "03840" "2022-07-11 12:14:39" "" "" "?" "DNA" "" "retrospective case series" "0000414350" "00413080" "1" "00000" "03840" "2022-07-11 12:14:39" "" "" "?" "DNA" "" "retrospective case series" "0000414351" "00413081" "1" "00000" "03840" "2022-07-11 12:14:39" "" "" "?" "DNA" "" "retrospective case series" "0000414352" "00413082" "1" "00000" "03840" "2022-07-11 12:42:26" "03840" "2022-07-11 12:46:33" "?" "DNA" "" "anna_tracewska" "0000414353" "00413083" "1" "00000" "03840" "2022-07-11 13:05:47" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000414354" "00413084" "1" "00000" "03840" "2022-07-11 13:05:47" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000414355" "00413085" "1" "00000" "03840" "2022-07-11 14:38:06" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000414356" "00413086" "1" "00000" "03840" "2022-07-11 14:38:06" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000414357" "00413087" "1" "00000" "03840" "2022-07-11 14:38:06" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000414358" "00413088" "1" "00000" "03840" "2022-07-11 14:38:06" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000414465" "00413195" "1" "00000" "03840" "2022-07-11 19:55:22" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000414466" "00413196" "1" "00000" "03840" "2022-07-11 19:55:22" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000414467" "00413197" "1" "00000" "03840" "2022-07-11 19:55:22" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000414468" "00413198" "1" "00000" "03840" "2022-07-11 19:55:22" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel of 48 macular and cone/cone-rod dystrophy genes" "0000420999" "00419694" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421000" "00419695" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421855" "00420546" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421867" "00420558" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000422692" "00421381" "1" "00000" "03840" "2022-11-04 12:16:27" "" "" "?" "DNA" "" "" "0000422693" "00421382" "1" "00000" "03840" "2022-11-04 12:16:27" "" "" "?" "DNA" "" "" "0000422694" "00421383" "1" "00000" "03840" "2022-11-04 12:16:27" "" "" "?" "DNA" "" "" "0000422695" "00421384" "1" "00000" "03840" "2022-11-04 12:16:27" "" "" "?" "DNA" "" "" "0000422696" "00421385" "1" "00000" "03840" "2022-11-04 12:16:27" "" "" "?" "DNA" "" "" "0000422697" "00421386" "1" "00000" "03840" "2022-11-04 12:16:27" "" "" "?" "DNA" "" "" "0000422698" "00421387" "1" "00000" "03840" "2022-11-04 12:16:27" "" "" "?" "DNA" "" "" "0000422699" "00421388" "1" "00000" "03840" "2022-11-04 12:36:20" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000422700" "00421389" "1" "00000" "03840" "2022-11-04 12:36:20" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000422701" "00421390" "1" "00000" "03840" "2022-11-04 12:36:20" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000443143" "00441657" "1" "04542" "00008" "2023-11-09 09:55:44" "" "" "SEQ-NG" "DNA" "blood" "Published as WGS" "0000448589" "00447012" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448741" "00447164" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448751" "00447174" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448754" "00447177" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448758" "00447181" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448847" "00447270" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449136" "00447559" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449146" "00447569" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449159" "00447582" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449197" "00447620" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449239" "00447662" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449240" "00447663" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449262" "00447685" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449286" "00447709" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449287" "00447710" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452332" "00450734" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452333" "00450735" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452334" "00450736" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452335" "00450737" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452336" "00450738" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452337" "00450739" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452338" "00450740" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452339" "00450741" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452340" "00450742" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452341" "00450743" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452342" "00450744" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452343" "00450745" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452344" "00450746" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452345" "00450747" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452346" "00450748" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452347" "00450749" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452348" "00450750" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452349" "00450751" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452350" "00450752" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452351" "00450753" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452352" "00450754" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452353" "00450755" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452354" "00450756" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452355" "00450757" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452356" "00450758" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452357" "00450759" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452358" "00450760" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452359" "00450761" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452360" "00450762" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452361" "00450763" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452756" "00451157" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452777" "00451178" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452841" "00451242" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452887" "00451288" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452938" "00451339" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452945" "00451346" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000453166" "00451565" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 190 "{{screeningid}}" "{{geneid}}" "0000057743" "CDHR1" "0000088092" "CDHR1" "0000100512" "CDHR1" "0000156268" "CDHR1" "0000156269" "CDHR1" "0000156270" "CDHR1" "0000241535" "CDHR1" "0000241536" "CDHR1" "0000300751" "ARHGEF18" "0000309520" "CDHR1" "0000309564" "CDHR1" "0000310166" "CDHR1" "0000310167" "CDHR1" "0000310168" "CDHR1" "0000310169" "CDHR1" "0000310170" "CDHR1" "0000310171" "CDHR1" "0000310825" "CDHR1" "0000326641" "CDHR1" "0000329219" "CDHR1" "0000329224" "CDHR1" "0000329236" "CDHR1" "0000329318" "CDHR1" "0000329466" "CDHR1" "0000329482" "CDHR1" "0000332511" "CDHR1" "0000333176" "CDHR1" "0000333177" "CDHR1" "0000333178" "CDHR1" "0000333179" "CDHR1" "0000333180" "CDHR1" "0000333181" "CDHR1" "0000334579" "PDE6B" "0000335037" "CDHR1" "0000335119" "CDHR1" "0000335120" "CDHR1" "0000335147" "CDHR1" "0000336121" "CDHR1" "0000336467" "CDHR1" "0000336484" "CDHR1" "0000336639" "CDHR1" "0000337193" "CDHR1" "0000360167" "CDHR1" "0000363394" "CDHR1" "0000363454" "CDHR1" "0000364157" "CDHR1" "0000364800" "CDHR1" "0000364805" "CDHR1" "0000364836" "CDHR1" "0000365083" "CDHR1" "0000365115" "CDHR1" "0000378916" "CDHR1" "0000378917" "CDHR1" "0000378918" "CDHR1" "0000378919" "CDHR1" "0000378920" "CDHR1" "0000378921" "CDHR1" "0000381019" "CDHR1" "0000382865" "RPE65" "0000382904" "ABCA4" "0000382947" "CDHR1" "0000383096" "CDHR1" "0000383460" "CDHR1" "0000383725" "CDHR1" "0000383726" "CDHR1" "0000385022" "CDHR1" "0000385212" "CDHR1" "0000386231" "CDHR1" "0000387393" "RHO" "0000387405" "ABCA4" "0000387433" "CDHR1" "0000387446" "ABCA4" "0000387456" "CDHR1" "0000387478" "CDHR1" "0000387479" "CDHR1" "0000387480" "CDHR1" "0000387805" "CDHR1" "0000387917" "CDHR1" "0000388096" "CDHR1" "0000388288" "CDHR1" "0000388854" "CDHR1" "0000390044" "CDHR1" "0000390138" "CDHR1" "0000390602" "CDHR1" "0000390696" "CDHR1" "0000390748" "CDHR1" "0000390754" "CDHR1" "0000390835" "CDHR1" "0000390880" "CDHR1" "0000390999" "CDHR1" "0000391148" "CDHR1" "0000391154" "CDHR1" "0000391441" "CDHR1" "0000391442" "CDHR1" "0000391443" "CDHR1" "0000391444" "CDHR1" "0000391445" "CDHR1" "0000391446" "CDHR1" "0000391992" "CDHR1" "0000392055" "CDHR1" "0000392056" "CDHR1" "0000392057" "CDHR1" "0000392058" "CDHR1" "0000392059" "CDHR1" "0000392060" "CDHR1" "0000392061" "CDHR1" "0000392062" "CDHR1" "0000392063" "CDHR1" "0000392064" "CDHR1" "0000392065" "CDHR1" "0000392066" "CDHR1" "0000392067" "CDHR1" "0000392068" "CDHR1" "0000392163" "CDHR1" "0000392239" "CDHR1" "0000392387" "CDHR1" "0000392388" "CDHR1" "0000392389" "CDHR1" "0000392390" "CDHR1" "0000392391" "CDHR1" "0000392602" "CDHR1" "0000393834" "CDHR1" "0000393862" "CDHR1" "0000393904" "CDHR1" "0000393917" "CDHR1" "0000394738" "CDHR1" "0000395791" "CDHR1" "0000396859" "CDHR1" "0000397111" "CDHR1" "0000397176" "CDHR1" "0000414315" "CDHR1" "0000414316" "CDHR1" "0000414317" "CDHR1" "0000414318" "CDHR1" "0000414319" "CDHR1" "0000414320" "CDHR1" "0000414321" "CDHR1" "0000414322" "CDHR1" "0000414323" "CDHR1" "0000414324" "CDHR1" "0000414325" "CDHR1" "0000414326" "CDHR1" "0000414327" "CDHR1" "0000414328" "CDHR1" "0000414329" "CDHR1" "0000414330" "CDHR1" "0000414331" "CDHR1" "0000414332" "CDHR1" "0000414333" "CDHR1" "0000414334" "CDHR1" "0000414335" "CDHR1" "0000414336" "CDHR1" "0000414337" "CDHR1" "0000414338" "CDHR1" "0000414339" "CDHR1" "0000414340" "CDHR1" "0000414341" "CDHR1" "0000414342" "CDHR1" "0000414343" "CDHR1" "0000414344" "CDHR1" "0000414345" "CDHR1" "0000414346" "CDHR1" "0000414348" "CDHR1" "0000414349" "CDHR1" "0000414350" "CDHR1" "0000414351" "CDHR1" "0000414352" "CDHR1" "0000414353" "CDHR1" "0000414354" "CDHR1" "0000414355" "CDHR1" "0000414356" "CDHR1" "0000414357" "CDHR1" "0000414358" "CDHR1" "0000414465" "CDHR1" "0000414466" "CDHR1" "0000414467" "CDHR1" "0000414468" "CDHR1" "0000421855" "CDHR1" "0000421867" "CDHR1" "0000422692" "CDHR1" "0000422693" "CDHR1" "0000422694" "CDHR1" "0000422695" "CDHR1" "0000422696" "CDHR1" "0000422697" "CDHR1" "0000422698" "CDHR1" "0000422699" "CDHR1" "0000422700" "CDHR1" "0000422701" "CDHR1" "0000443143" "CDHR1" ## 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 = 429 "{{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}}" "0000019542" "0" "55" "10" "85973091" "85973091" "subst" "0.000329183" "00102" "CDHR1_000003" "g.85973091T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.84213335T>A" "" "VUS" "" "0000088037" "3" "70" "10" "85970820" "85970828" "delins" "0" "01338" "CDHR1_000002" "g.85970820_85970828delinsG" "" "" "" "1384_1392delCTCCTGGACinsG" "" "Germline" "yes" "" "0" "" "" "g.84211064_84211072delinsG" "" "likely pathogenic" "" "0000140625" "3" "95" "10" "85958822" "85958822" "subst" "0" "00039" "CDHR1_000001" "g.85958822C>G" "" "{PMID:Abu-Safieh-2013:23105016}" "" "NM_001171971.1:c.383C>G" "" "Germline" "" "" "0" "" "" "g.84199066C>G" "" "pathogenic" "" "0000162811" "3" "90" "10" "85970899" "85970899" "del" "0" "01769" "CDHR1_000004" "g.85970899del" "" "{PMID:Li 2017:28418496}" "" "1463delG" "" "Germline" "yes" "" "0" "" "" "g.84211143del" "" "pathogenic" "" "0000246960" "0" "50" "10" "85973043" "85973043" "subst" "4.06095E-6" "02330" "CDHR1_000050" "g.85973043A>T" "" "" "" "CDHR1(NM_033100.4):c.1979A>T (p.D660V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84213287A>T" "" "VUS" "" "0000248630" "0" "10" "10" "85960395" "85960395" "subst" "0.473358" "02325" "CDHR1_000012" "g.85960395A>G" "" "" "" "CDHR1(NM_033100.4):c.477A>G (p.A159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84200639A>G" "" "benign" "" "0000248631" "0" "10" "10" "85972043" "85972043" "subst" "0.353051" "02325" "CDHR1_000027" "g.85972043A>G" "" "" "" "CDHR1(NM_033100.4):c.1662A>G (p.E554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84212287A>G" "" "benign" "" "0000249147" "0" "10" "10" "85974381" "85974381" "subst" "0.585878" "02325" "CDHR1_000037" "g.85974381A>G" "" "" "" "CDHR1(NM_033100.4):c.*4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84214625A>G" "" "benign" "" "0000254829" "0" "30" "10" "85972932" "85972932" "subst" "0.00378443" "01943" "CDHR1_000030" "g.85972932A>G" "" "" "" "CDHR1(NM_033100.4):c.1868A>G (p.N623S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84213176A>G" "" "likely benign" "" "0000255989" "0" "50" "10" "85978953" "85978953" "subst" "0" "01943" "CDHR1_000039" "g.85978953A>C" "" "" "" "CDHR1(NM_001171971.2):c.2159A>C (p.H720P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84219197A>C" "" "VUS" "" "0000264473" "0" "10" "10" "85954516" "85954516" "subst" "0.000911617" "02330" "CDHR1_000005" "g.85954516C>T" "" "" "" "CDHR1(NM_033100.4):c.-1C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84194760C>T" "" "benign" "" "0000264474" "0" "10" "10" "85968037" "85968037" "subst" "0.00137297" "02330" "CDHR1_000021" "g.85968037C>T" "" "" "" "CDHR1(NM_033100.4):c.1071C>T (p.S357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84208281C>T" "" "benign" "" "0000264475" "0" "10" "10" "85968529" "85968529" "subst" "4.06078E-5" "02330" "CDHR1_000022" "g.85968529C>A" "" "" "" "CDHR1(NM_033100.4):c.1212C>A (p.G404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84208773C>A" "" "benign" "" "0000264476" "0" "50" "10" "85970790" "85970790" "subst" "0.00019086" "02330" "CDHR1_000024" "g.85970790T>C" "" "" "" "CDHR1(NM_033100.4):c.1354T>C (p.F452L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84211034T>C" "" "VUS" "" "0000264477" "0" "30" "10" "85970867" "85970867" "subst" "0.000162434" "02330" "CDHR1_000025" "g.85970867C>T" "" "" "" "CDHR1(NM_033100.4):c.1431C>T (p.Y477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84211111C>T" "" "likely benign" "" "0000264478" "0" "10" "10" "85970897" "85970897" "subst" "0.00140534" "02330" "CDHR1_000026" "g.85970897G>A" "" "" "" "CDHR1(NM_033100.4):c.1461G>A (p.G487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84211141G>A" "" "benign" "" "0000264479" "0" "50" "10" "85956264" "85956264" "subst" "9.74572E-5" "02330" "CDHR1_000006" "g.85956264C>T" "" "" "" "CDHR1(NM_033100.4):c.155C>T (p.S52F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84196508C>T" "" "VUS" "" "0000264480" "0" "50" "10" "85972919" "85972919" "subst" "0.000251756" "02330" "CDHR1_000028" "g.85972919G>T" "" "" "" "CDHR1(NM_033100.4):c.1855G>T (p.V619L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84213163G>T" "" "VUS" "" "0000264481" "0" "50" "10" "85972970" "85972970" "subst" "0.000280178" "02330" "CDHR1_000031" "g.85972970C>T" "" "" "" "CDHR1(NM_033100.4):c.1906C>T (p.R636C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84213214C>T" "" "VUS" "" "0000264482" "0" "10" "10" "85973121" "85973121" "subst" "0.00291034" "02330" "CDHR1_000032" "g.85973121G>A" "" "" "" "CDHR1(NM_033100.4):c.2040+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84213365G>A" "" "benign" "" "0000264483" "0" "50" "10" "85973986" "85973986" "subst" "4.88011E-5" "02330" "CDHR1_000033" "g.85973986C>T" "" "" "" "CDHR1(NM_033100.4):c.2189C>T (p.S730F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84214230C>T" "" "VUS" "" "0000264484" "0" "10" "10" "85974026" "85974026" "subst" "0.00126536" "02330" "CDHR1_000034" "g.85974026G>A" "" "" "" "CDHR1(NM_033100.4):c.2229G>A (p.R743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84214270G>A" "" "benign" "" "0000264485" "0" "10" "10" "85974270" "85974270" "subst" "0.00351611" "02330" "CDHR1_000036" "g.85974270C>A" "" "" "" "CDHR1(NM_033100.4):c.2473C>A (p.P825T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84214514C>A" "" "benign" "" "0000264486" "0" "10" "10" "85957602" "85957602" "subst" "7.31707E-5" "02330" "CDHR1_000010" "g.85957602C>T" "" "" "" "CDHR1(NM_033100.4):c.348+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84197846C>T" "" "benign" "" "0000264487" "0" "30" "10" "85961556" "85961556" "subst" "0.00216484" "02330" "CDHR1_000014" "g.85961556C>G" "" "" "" "CDHR1(NM_033100.4):c.526-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84201800C>G" "" "likely benign" "" "0000264488" "0" "10" "10" "85961584" "85961584" "subst" "0.000416433" "02330" "CDHR1_000015" "g.85961584G>A" "" "" "" "CDHR1(NM_033100.4):c.547G>A (p.V183M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84201828G>A" "" "benign" "" "0000264489" "0" "10" "10" "85961616" "85961616" "subst" "0.000235469" "02330" "CDHR1_000017" "g.85961616G>A" "" "" "" "CDHR1(NM_033100.4):c.579G>A (p.Q193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84201860G>A" "" "benign" "" "0000266607" "0" "10" "10" "85978939" "85978939" "subst" "0.49134" "02325" "CDHR1_000038" "g.85978939G>A" "" "" "" "CDHR1(NM_001171971.3):c.2145G>A (p.L715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84219183G>A" "" "benign" "" "0000266608" "0" "10" "10" "85974236" "85974236" "subst" "0.531413" "02325" "CDHR1_000035" "g.85974236T>C" "" "" "" "CDHR1(NM_033100.4):c.2439T>C (p.T813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84214480T>C" "" "benign" "" "0000272989" "0" "30" "10" "85968037" "85968037" "subst" "0.00137297" "01943" "CDHR1_000021" "g.85968037C>T" "" "" "" "CDHR1(NM_033100.4):c.1071C>T (p.S357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84208281C>T" "" "likely benign" "" "0000272990" "0" "30" "10" "85970780" "85970780" "subst" "0.000763545" "01943" "CDHR1_000023" "g.85970780C>T" "" "" "" "CDHR1(NM_033100.4):c.1344C>T (p.T448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84211024C>T" "" "likely benign" "" "0000272991" "0" "30" "10" "85970897" "85970897" "subst" "0.00140534" "01943" "CDHR1_000026" "g.85970897G>A" "" "" "" "CDHR1(NM_033100.4):c.1461G>A (p.G487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84211141G>A" "" "likely benign" "" "0000272992" "0" "50" "10" "85972925" "85972925" "subst" "0" "01943" "CDHR1_000029" "g.85972925G>C" "" "" "" "CDHR1(NM_033100.4):c.1861G>C (p.D621H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84213169G>C" "" "VUS" "" "0000272993" "0" "30" "10" "85956349" "85956349" "subst" "0.00928648" "01943" "CDHR1_000007" "g.85956349C>T" "" "" "" "CDHR1(NM_033100.4):c.240C>T (p.V80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84196593C>T" "" "likely benign" "" "0000272995" "0" "90" "10" "85957582" "85957582" "del" "0" "01943" "CDHR1_000009" "g.85957582del" "" "" "" "CDHR1(NM_033100.4):c.338delG (p.G113Afs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84197826del" "" "pathogenic" "" "0000272996" "0" "50" "10" "85958818" "85958818" "subst" "0" "01943" "CDHR1_000011" "g.85958818G>A" "" "" "" "CDHR1(NM_033100.4):c.379G>A (p.D127N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84199062G>A" "" "VUS" "" "0000272997" "0" "90" "10" "85960441" "85960441" "subst" "4.29199E-6" "01943" "CDHR1_000013" "g.85960441C>T" "" "" "" "CDHR1(NM_033100.4):c.523C>T (p.Q175*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84200685C>T" "" "pathogenic" "" "0000272998" "0" "30" "10" "85961556" "85961556" "subst" "0.00216484" "01943" "CDHR1_000014" "g.85961556C>G" "" "" "" "CDHR1(NM_033100.4):c.526-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84201800C>G" "" "likely benign" "" "0000272999" "0" "50" "10" "85961593" "85961593" "subst" "0.00100541" "01943" "CDHR1_000016" "g.85961593C>T" "" "" "" "CDHR1(NM_033100.4):c.556C>T (p.H186Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84201837C>T" "" "VUS" "" "0000273000" "0" "30" "10" "85964280" "85964280" "subst" "8.52847E-5" "01943" "CDHR1_000018" "g.85964280G>A" "" "" "" "CDHR1(NM_033100.4):c.784-3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84204524G>A" "" "likely benign" "" "0000273001" "0" "50" "10" "85964322" "85964322" "subst" "1.21822E-5" "01943" "CDHR1_000019" "g.85964322C>T" "" "" "" "CDHR1(NM_033100.4):c.823C>T (p.R275W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84204566C>T" "" "VUS" "" "0000273002" "0" "50" "10" "85965651" "85965651" "subst" "4.06213E-5" "01943" "CDHR1_000020" "g.85965651C>A" "" "" "" "CDHR1(NM_033100.4):c.931C>A (p.L311I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84205895C>A" "" "VUS" "" "0000338826" "0" "10" "10" "85972043" "85972043" "subst" "0.353051" "02327" "CDHR1_000027" "g.85972043A>G" "" "" "" "CDHR1(NM_033100.4):c.1662A>G (p.E554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84212287A>G" "" "benign" "" "0000338827" "0" "10" "10" "85974236" "85974236" "subst" "0.531413" "02327" "CDHR1_000035" "g.85974236T>C" "" "" "" "CDHR1(NM_033100.4):c.2439T>C (p.T813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84214480T>C" "" "benign" "" "0000338828" "0" "10" "10" "85974381" "85974381" "subst" "0.585878" "02327" "CDHR1_000037" "g.85974381A>G" "" "" "" "CDHR1(NM_033100.4):c.*4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84214625A>G" "" "benign" "" "0000340494" "0" "10" "10" "85960395" "85960395" "subst" "0.473358" "02327" "CDHR1_000012" "g.85960395A>G" "" "" "" "CDHR1(NM_033100.4):c.477A>G (p.A159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84200639A>G" "" "benign" "" "0000342156" "0" "50" "10" "85961608" "85961608" "subst" "0.00215943" "02327" "CDHR1_000041" "g.85961608C>T" "" "" "" "CDHR1(NM_033100.4):c.571C>T (p.R191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84201852C>T" "" "VUS" "" "0000344112" "0" "50" "10" "85970837" "85970837" "subst" "1.62429E-5" "02327" "CDHR1_000044" "g.85970837C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84211081C>A" "" "VUS" "" "0000344606" "0" "90" "10" "85960441" "85960441" "subst" "4.29199E-6" "02327" "CDHR1_000013" "g.85960441C>T" "" "" "" "CDHR1(NM_033100.4):c.523C>T (p.Q175*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84200685C>T" "" "pathogenic" "" "0000344957" "0" "50" "10" "85979021" "85979021" "subst" "1.38739E-5" "02327" "CDHR1_000047" "g.85979021C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84219265C>T" "" "VUS" "" "0000349317" "0" "50" "10" "85960430" "85960430" "subst" "2.09867E-5" "02327" "CDHR1_000040" "g.85960430C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84200674C>G" "" "VUS" "" "0000350775" "0" "90" "10" "85970923" "85970923" "subst" "4.06339E-6" "02327" "CDHR1_000045" "g.85970923T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84211167T>G" "" "pathogenic" "" "0000358190" "3" "90" "10" "85954517" "85954517" "subst" "8.828E-6" "01243" "CDHR1_000048" "g.85954517A>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.84194761A>T" "" "pathogenic" "" "0000358191" "3" "90" "10" "85970817" "85970817" "subst" "0" "01243" "CDHR1_000049" "g.85970817C>T" "" "{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.84211061C>T" "" "pathogenic (recessive)" "" "0000358192" "3" "90" "10" "85978881" "85978884" "del" "0" "01243" "CDHR1_000051" "g.85978881_85978884del" "" "Sharon, submitted" "" "NM_001171971.2:c.2087_2090del (Asp696Alafs*3)" "" "Germline" "" "" "0" "" "" "g.84219125_84219128del" "" "pathogenic" "" "0000487545" "0" "70" "10" "85965683" "85965683" "subst" "4.06759E-6" "03335" "CDHR1_000052" "g.85965683G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.84205927G>C" "" "likely pathogenic (recessive)" "" "0000487546" "0" "90" "10" "85973836" "85973836" "subst" "2.44443E-5" "03335" "CDHR1_000053" "g.85973836A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.84214080A>C" "" "pathogenic (recessive)" "" "0000541105" "0" "50" "10" "85955334" "85955334" "subst" "0" "02327" "CDHR1_000054" "g.85955334A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84195578A>C" "" "VUS" "" "0000541106" "0" "50" "10" "85956392" "85956392" "subst" "0" "01943" "CDHR1_000055" "g.85956392G>A" "" "" "" "CDHR1(NM_033100.4):c.283G>A (p.E95K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84196636G>A" "" "VUS" "" "0000541107" "0" "50" "10" "85958803" "85958803" "subst" "1.34036E-5" "02330" "CDHR1_000056" "g.85958803G>A" "" "" "" "CDHR1(NM_033100.4):c.364G>A (p.V122M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84199047G>A" "" "VUS" "" "0000541108" "0" "50" "10" "85961590" "85961590" "subst" "0" "02330" "CDHR1_000057" "g.85961590C>T" "" "" "" "CDHR1(NM_033100.4):c.553C>T (p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84201834C>T" "" "VUS" "" "0000541109" "0" "50" "10" "85961593" "85961593" "subst" "0.00100541" "02330" "CDHR1_000016" "g.85961593C>T" "" "" "" "CDHR1(NM_033100.4):c.556C>T (p.H186Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84201837C>T" "" "VUS" "" "0000541110" "0" "30" "10" "85961598" "85961598" "subst" "4.53964E-5" "02330" "CDHR1_000058" "g.85961598C>T" "" "" "" "CDHR1(NM_033100.4):c.561C>T (p.S187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84201842C>T" "" "likely benign" "" "0000541111" "0" "10" "10" "85961608" "85961608" "subst" "0.00215943" "01943" "CDHR1_000041" "g.85961608C>T" "" "" "" "CDHR1(NM_033100.4):c.571C>T (p.R191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84201852C>T" "" "benign" "" "0000541112" "0" "50" "10" "85962785" "85962785" "subst" "0.000377653" "02330" "CDHR1_000059" "g.85962785C>T" "" "" "" "CDHR1(NM_033100.4):c.689C>T (p.T230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84203029C>T" "" "VUS" "" "0000541113" "0" "50" "10" "85962785" "85962785" "subst" "0.000377653" "01943" "CDHR1_000059" "g.85962785C>T" "" "" "" "CDHR1(NM_033100.4):c.689C>T (p.T230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84203029C>T" "" "VUS" "" "0000541116" "0" "30" "10" "85964280" "85964280" "subst" "8.52847E-5" "02330" "CDHR1_000018" "g.85964280G>A" "" "" "" "CDHR1(NM_033100.4):c.784-3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84204524G>A" "" "likely benign" "" "0000541117" "0" "30" "10" "85967924" "85967924" "subst" "3.25439E-5" "01943" "CDHR1_000060" "g.85967924T>A" "" "" "" "CDHR1(NM_033100.4):c.964-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84208168T>A" "" "likely benign" "" "0000541118" "0" "30" "10" "85967998" "85967998" "subst" "3.24973E-5" "01943" "CDHR1_000061" "g.85967998G>A" "" "" "" "CDHR1(NM_033100.4):c.1032G>A (p.V344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84208242G>A" "" "likely benign" "" "0000541119" "0" "50" "10" "85968077" "85968077" "subst" "1.21896E-5" "01943" "CDHR1_000062" "g.85968077C>T" "" "" "" "CDHR1(NM_033100.4):c.1111C>T (p.P371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84208321C>T" "" "VUS" "" "0000541120" "0" "50" "10" "85968099" "85968099" "subst" "0.00108572" "02330" "CDHR1_000063" "g.85968099G>A" "" "" "" "CDHR1(NM_033100.4):c.1133G>A (p.R378Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84208343G>A" "" "VUS" "" "0000541121" "0" "50" "10" "85968128" "85968128" "subst" "2.04043E-5" "01943" "CDHR1_000064" "g.85968128G>A" "" "" "" "CDHR1(NM_033100.4):c.1162G>A (p.D388N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84208372G>A" "" "VUS" "" "0000541122" "0" "50" "10" "85968504" "85968504" "subst" "0.00023959" "02327" "CDHR1_000065" "g.85968504A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84208748A>G" "" "VUS" "" "0000541123" "0" "50" "10" "85968522" "85968522" "subst" "0" "01943" "CDHR1_000066" "g.85968522C>A" "" "" "" "CDHR1(NM_033100.4):c.1205C>A (p.P402H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84208766C>A" "" "VUS" "" "0000541124" "0" "10" "10" "85970780" "85970780" "subst" "0.000763545" "02330" "CDHR1_000023" "g.85970780C>T" "" "" "" "CDHR1(NM_033100.4):c.1344C>T (p.T448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84211024C>T" "" "benign" "" "0000541125" "0" "10" "10" "85971477" "85971477" "subst" "0.00129943" "02330" "CDHR1_000067" "g.85971477T>C" "" "" "" "CDHR1(NM_033100.4):c.1553+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84211721T>C" "" "benign" "" "0000541126" "0" "50" "10" "85971477" "85971477" "subst" "0.00129943" "01943" "CDHR1_000067" "g.85971477T>C" "" "" "" "CDHR1(NM_033100.4):c.1553+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84211721T>C" "" "VUS" "" "0000541127" "0" "30" "10" "85972856" "85972856" "subst" "0.000398303" "01943" "CDHR1_000068" "g.85972856G>A" "" "" "" "CDHR1(NM_033100.4):c.1792G>A (p.E598K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84213100G>A" "" "likely benign" "" "0000541128" "0" "50" "10" "85973986" "85973986" "subst" "4.88011E-5" "01943" "CDHR1_000033" "g.85973986C>T" "" "" "" "CDHR1(NM_033100.4):c.2189C>T (p.S730F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84214230C>T" "" "VUS" "" "0000541129" "0" "50" "10" "85974267" "85974267" "subst" "2.51551E-5" "02330" "CDHR1_000069" "g.85974267C>T" "" "" "" "CDHR1(NM_033100.4):c.2470C>T (p.Q824*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84214511C>T" "" "VUS" "" "0000541130" "0" "30" "10" "85974349" "85974351" "del" "0" "02330" "CDHR1_000070" "g.85974349_85974351del" "" "" "" "CDHR1(NM_033100.4):c.2552_2554delAGA (p.K851del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84214593_84214595del" "" "likely benign" "" "0000541131" "0" "10" "10" "85974392" "85974392" "subst" "0" "02330" "CDHR1_000071" "g.85974392C>G" "" "" "" "CDHR1(NM_033100.4):c.*15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84214636C>G" "" "benign" "" "0000541132" "0" "30" "10" "85978860" "85978860" "subst" "0.000294499" "01943" "CDHR1_000072" "g.85978860A>G" "" "" "" "CDHR1(NM_001171971.2):c.2066A>G (p.N689S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84219104A>G" "" "likely benign" "" "0000541133" "0" "10" "10" "85978933" "85978933" "subst" "2.76897E-5" "02330" "CDHR1_000073" "g.85978933G>A" "" "" "" "CDHR1(NM_001171971.3):c.2139G>A (p.Q713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84219177G>A" "" "benign" "" "0000612701" "0" "70" "10" "85957594" "85957594" "subst" "8.12777E-6" "01943" "CDHR1_000074" "g.85957594T>A" "" "" "" "CDHR1(NM_033100.4):c.348+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84197838T>A" "" "likely pathogenic" "" "0000612702" "0" "10" "10" "85962864" "85962864" "subst" "8.12203E-6" "02330" "CDHR1_000075" "g.85962864C>T" "" "" "" "CDHR1(NM_033100.4):c.768C>T (p.Y256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84203108C>T" "" "benign" "" "0000648011" "1" "50" "10" "85968099" "85968099" "subst" "0.00108572" "03575" "CDHR1_000063" "g.85968099G>A" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs140621272}" "Germline" "" "rs140621272" "0" "" "" "g.84208343G>A" "" "VUS" "" "0000648012" "1" "30" "10" "85974231" "85974231" "subst" "0.0311618" "03575" "CDHR1_000077" "g.85974231C>T" "72/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "72 heterozygous, no homozygous; {DB:CLININrs45584033}" "Germline" "" "rs45584033" "0" "" "" "g.84214475C>T" "" "likely benign" "" "0000652974" "1" "50" "10" "85956268" "85956268" "subst" "0.0278931" "03575" "CDHR1_000076" "g.85956268C>A" "82/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "82 heterozygous; {DB:CLININrs12781048}" "Germline" "" "rs12781048" "0" "" "" "g.84196512C>A" "" "VUS" "" "0000656576" "0" "50" "10" "85955337" "85955337" "subst" "0.000402816" "02330" "CDHR1_000078" "g.85955337C>A" "" "" "" "CDHR1(NM_033100.4):c.143C>A (p.T48N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84195581C>A" "" "VUS" "" "0000656577" "0" "30" "10" "85958841" "85958841" "subst" "0.000335125" "01943" "CDHR1_000079" "g.85958841G>T" "" "" "" "CDHR1(NM_033100.4):c.402G>T (p.R134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84199085G>T" "" "likely benign" "" "0000656578" "0" "30" "10" "85978999" "85978999" "subst" "0" "02330" "CDHR1_000080" "g.85978999T>C" "" "" "" "CDHR1(NM_001171971.3):c.2205T>C (p.S735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84219243T>C" "" "likely benign" "" "0000663590" "1" "50" "10" "85972932" "85972932" "subst" "0.00378443" "00006" "CDHR1_000030" "g.85972932A>G" "" "{PMID:Arno 2017:28132693}" "" "" "heterozygous variant only" "Germline" "" "" "0" "" "" "g.84213176A>G" "" "VUS" "" "0000670141" "3" "50" "10" "85956268" "85956268" "subst" "0.0278931" "03575" "CDHR1_000076" "g.85956268C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs12781048}" "Germline" "" "rs12781048" "0" "" "" "g.84196512C>A" "" "VUS" "" "0000678931" "0" "50" "10" "85955303" "85955303" "subst" "0" "02327" "CDHR1_000081" "g.85955303G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678932" "0" "90" "10" "85970817" "85970817" "subst" "0" "02327" "CDHR1_000049" "g.85970817C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678933" "0" "50" "10" "85973973" "85973973" "subst" "0.000235782" "01943" "CDHR1_000082" "g.85973973C>T" "" "" "" "CDHR1(NM_033100.4):c.2176C>T (p.R726C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684385" "3" "70" "10" "85964337" "85964337" "subst" "2.03042E-5" "00004" "CDHR1_000083" "g.85964337C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.84204581C>T" "" "likely pathogenic (recessive)" "" "0000684429" "1" "70" "10" "85972927" "85972927" "dup" "0" "00004" "CDHR1_000084" "g.85972927dup" "" "{PMID:Boulanger-Scemama 2015:26103963}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.84213171dup" "" "likely pathogenic (recessive)" "" "0000685077" "0" "90" "10" "85954517" "85954517" "subst" "8.828E-6" "00004" "CDHR1_000048" "g.85954517A>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001171971.2:c.1A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685078" "0" "70" "10" "85964326" "85964326" "subst" "0" "00004" "CDHR1_000045" "g.85964326G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001171971.2:c.827G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685079" "0" "70" "10" "85970809" "85970809" "subst" "4.06065E-6" "00004" "CDHR1_000045" "g.85970809T>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001171971.2:c.1373T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685080" "0" "90" "10" "85970817" "85970817" "subst" "0" "00004" "CDHR1_000049" "g.85970817C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001171971.2:c.1381C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685081" "0" "90" "10" "85970923" "85970923" "subst" "4.06339E-6" "00004" "CDHR1_000045" "g.85970923T>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001171971.2:c.1485+2T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685082" "0" "90" "10" "85978881" "85978884" "del" "0" "00004" "CDHR1_000051" "g.85978881_85978884del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001171971.2:c.2087_2090del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685849" "3" "90" "10" "85970817" "85970817" "subst" "0" "00004" "CDHR1_000049" "g.85970817C>T" "" "{PMID:Lazar 2015:25515582}" "" "" "" "Germline" "" "" "0" "" "" "g.84211061C>T" "" "pathogenic (recessive)" "" "0000690803" "0" "30" "10" "85970867" "85970867" "subst" "0.000162434" "01943" "CDHR1_000025" "g.85970867C>T" "" "" "" "CDHR1(NM_033100.4):c.1431C>T (p.Y477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690804" "0" "50" "10" "85972887" "85972887" "subst" "4.06098E-6" "01943" "CDHR1_000085" "g.85972887A>T" "" "" "" "CDHR1(NM_033100.4):c.1823A>T (p.D608V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690805" "0" "30" "10" "85974164" "85974164" "subst" "0.000431364" "01943" "CDHR1_000086" "g.85974164G>A" "" "" "" "CDHR1(NM_033100.4):c.2367G>A (p.P789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690806" "0" "50" "10" "85978836" "85978836" "subst" "0" "01943" "CDHR1_000087" "g.85978836T>A" "" "" "" "CDHR1(NM_001171971.2):c.2042T>A (p.V681E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000710233" "1" "70" "10" "85965683" "85965683" "subst" "4.06759E-6" "00006" "CDHR1_000052" "g.85965683G>C" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.84205927G>C" "" "likely pathogenic" "ACMG" "0000710338" "2" "90" "10" "85973836" "85973836" "subst" "2.44443E-5" "00006" "CDHR1_000053" "g.85973836A>C" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PVS1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.84214080A>C" "" "pathogenic" "ACMG" "0000713342" "3" "90" "10" "85974313" "85974319" "del" "3.80492E-5" "00000" "CDHR1_000091" "g.85974313_85974319del" "" "{PMID:Carss 2017:28041643}" "" "10:85974312ACTCTGAT>A ENST00000372117.3:c.2522_2528delTCTCTGA (Ile841SerfsTer119)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713347" "3" "90" "10" "85974313" "85974319" "del" "3.80492E-5" "00000" "CDHR1_000091" "g.85974313_85974319del" "" "{PMID:Carss 2017:28041643}" "" "10:85974312ACTCTGAT>A ENST00000372117.3:c.2522_2528delTCTCTGA (Ile841SerfsTer119)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713359" "3" "90" "10" "85970895" "85970895" "del" "6.09246E-5" "00000" "CDHR1_000089" "g.85970895del" "" "{PMID:Carss 2017:28041643}" "" "10:85970894AG>A ENST00000372117.3:c.1463delG (Gly488AlafsTer20)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713441" "3" "90" "10" "85974313" "85974319" "del" "3.80492E-5" "00000" "CDHR1_000091" "g.85974313_85974319del" "" "{PMID:Carss 2017:28041643}" "" "10:85974312ACTCTGAT>A ENST00000372117.3:c.2522_2528delTCTCTGA (Ile841SerfsTer119)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713589" "0" "90" "10" "85971445" "85971445" "subst" "4.06055E-6" "00000" "CDHR1_000090" "g.85971445T>G" "" "{PMID:Carss 2017:28041643}" "" "10:85971445T>G ENST00000372117.3:c.1527T>G (Tyr509Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713605" "3" "90" "10" "85970884" "85970884" "subst" "0" "00000" "CDHR1_000088" "g.85970884A>G" "" "{PMID:Carss 2017:28041643}" "" "10:85970884A>G ENST00000372117.3:c.1448A>G (Glu483Gly)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713858" "0" "90" "10" "85974313" "85974319" "del" "3.80492E-5" "00000" "CDHR1_000091" "g.85974313_85974319del" "" "{PMID:Carss 2017:28041643}" "" "10:85974312ACTCTGAT>A ENST00000372117.3:c.2522_2528delTCTCTGA (Ile841SerfsTer119)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000722962" "0" "50" "10" "85954557" "85954557" "subst" "0" "02327" "CDHR1_000092" "g.85954557T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722963" "0" "30" "10" "85958847" "85958847" "subst" "0.00121317" "01943" "CDHR1_000093" "g.85958847C>T" "" "" "" "CDHR1(NM_033100.4):c.408C>T (p.I136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722964" "0" "50" "10" "85964306" "85964306" "subst" "1.2182E-5" "01943" "CDHR1_000095" "g.85964306C>T" "" "" "" "CDHR1(NM_033100.4):c.807C>T (p.V269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722965" "0" "70" "10" "85972116" "85972117" "dup" "0" "01943" "CDHR1_000097" "g.85972116_85972117dup" "" "" "" "CDHR1(NM_033100.4):c.1735_1736dupAG (p.S579Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722966" "0" "50" "10" "85981715" "85981715" "dup" "0" "01943" "CDHR1_000098" "g.85981715dup" "" "" "" "LRIT2(NM_001284223.1):c.1648dupG (p.D550Gfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729766" "3" "70" "10" "85961638" "85961638" "subst" "0.000178924" "00000" "CDHR1_000094" "g.85961638G>A" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs200646223" "0" "" "" "g.84201882G>A" "" "likely pathogenic" "" "0000730600" "1" "90" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "pathogenic (recessive)" "" "0000730601" "3" "90" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "pathogenic (recessive)" "" "0000730602" "3" "90" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "pathogenic (recessive)" "" "0000730603" "3" "90" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "pathogenic (recessive)" "" "0000730604" "3" "90" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "pathogenic (recessive)" "" "0000730605" "3" "90" "10" "85971421" "85971425" "del" "0" "00000" "CDHR1_000096" "g.85971421_85971425del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.84211665_84211669del" "" "pathogenic (recessive)" "" "0000730787" "2" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic (recessive)" "" "0000732460" "0" "50" "10" "85972913" "85972913" "subst" "0.000499456" "00000" "CDHR1_000103" "g.85972913G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.84213157G>A" "" "VUS" "" "0000732517" "0" "90" "10" "85956264" "85956264" "subst" "9.74572E-5" "00000" "CDHR1_000006" "g.85956264C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.84196508C>T" "" "pathogenic" "" "0000733046" "3" "70" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000100" "g.85960442dup" "" "{PMID:Stone 2017:28559085}" "" "523_524insA" "" "Germline" "" "" "0" "" "" "g.84200686dup" "" "likely pathogenic" "" "0000733128" "1" "70" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000100" "g.85960442dup" "" "{PMID:Stone 2017:28559085}" "" "524_525insA" "" "Germline" "" "" "0" "" "" "g.84200686dup" "" "likely pathogenic" "" "0000733129" "3" "70" "10" "85973891" "85973891" "del" "0" "00000" "CDHR1_000104" "g.85973891del" "" "{PMID:Stone 2017:28559085}" "" "2091delC" "" "Germline" "" "" "0" "" "" "g.84214135del" "" "likely pathogenic" "" "0000733156" "1" "70" "10" "85968024" "85968024" "subst" "1.21848E-5" "00000" "CDHR1_000101" "g.85968024T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.84208268T>C" "" "likely pathogenic" "" "0000733579" "2" "70" "10" "85970756" "85970756" "subst" "0" "00000" "CDHR1_000102" "g.85970756G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS12-1G>A" "" "Germline" "" "" "0" "" "" "g.84211000G>A" "" "likely pathogenic" "" "0000733598" "2" "70" "10" "85956340" "85956340" "dup" "0" "00000" "CDHR1_000099" "g.85956340dup" "" "{PMID:Stone 2017:28559085}" "" "230_231insT" "" "Germline" "" "" "0" "" "" "g.84196584dup" "" "likely pathogenic" "" "0000735172" "3" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Li 2017:28418496}" "" "1463delG" "" "Germline" "" "" "0" "" "" "g.84211143del" "" "likely pathogenic" "" "0000735842" "20" "70" "10" "85971933" "85971933" "subst" "0" "00000" "CDHR1_000107" "g.85971933A>C" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "likely pathogenic" "" "0000735862" "10" "70" "10" "85972932" "85972932" "dup" "0" "00000" "CDHR1_000105" "g.85972932dup" "" "{PMID:Riera 2017:28181551}" "" "1868_1869insA" "" "Germline" "yes" "" "0" "" "" "g.84213176dup" "" "likely pathogenic" "" "0000735877" "10" "90" "10" "85972932" "85972932" "dup" "0" "00006" "CDHR1_000105" "g.85972932dup" "" "{PMID:Riera 2017:28181551}" "" "1868_1869insA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000735878" "20" "90" "10" "85970923" "85970923" "subst" "8.12678E-6" "00006" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736084" "3" "70" "10" "85968083" "85968083" "subst" "0" "00000" "CDHR1_000108" "g.85968083C>T" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.84208327C>T" "" "likely pathogenic" "" "0000736823" "3" "70" "10" "85962786" "85962788" "del" "0" "00000" "CDHR1_000109" "g.85962786_85962788del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.84203030_84203032del" "" "likely pathogenic" "" "0000759894" "1" "70" "10" "85958837" "85958837" "subst" "0" "00000" "CDHR1_000111" "g.85958837C>G" "" "{PMID:Tiwari 2016:27391102}" "" "" "" "Germline" "" "" "0" "" "" "g.84199081C>G" "" "likely pathogenic (recessive)" "" "0000759896" "2" "70" "10" "85960340" "85960340" "subst" "8.86501E-6" "00000" "CDHR1_000113" "g.85960340G>A" "" "{PMID:Tiwari 2016:27391102}" "" "" "" "Germline" "" "" "0" "" "" "g.84200584G>A" "" "likely pathogenic (recessive)" "" "0000759899" "3" "90" "10" "85970820" "85970828" "delins" "0" "00006" "CDHR1_000002" "g.85970820_85970828delinsG" "" "{PMID:Sundaramurthy 2016:27383656}" "" "1384_1392delCTCCTGGACinsG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000759986" "0" "50" "10" "85958855" "85958855" "subst" "2.0114E-5" "00000" "CDHR1_000112" "g.85958855C>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.84199099C>G" "" "VUS" "" "0000760072" "0" "50" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "VUS" "" "0000760084" "0" "50" "10" "85970803" "85970803" "subst" "4.06081E-6" "00000" "CDHR1_000114" "g.85970803C>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.84211047C>A" "" "VUS" "" "0000760281" "3" "50" "10" "85956379" "85956379" "dup" "0" "00000" "CDHR1_000110" "g.85956379dup" "" "{PMID:Ellingford 2016:27208204}" "" "270dupC" "" "Germline" "" "" "0" "" "" "g.84196623dup" "" "VUS" "" "0000764031" "3" "70" "10" "85958825" "85958825" "subst" "1.33998E-5" "00000" "CDHR1_000115" "g.85958825A>G" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "" "0" "" "" "g.84199069A>G" "" "likely pathogenic" "" "0000764109" "3" "90" "10" "85962879" "85962879" "subst" "0.00288381" "04043" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "pathogenic (recessive)" "" "0000764919" "1" "70" "10" "85970884" "85970884" "subst" "0" "00000" "CDHR1_000088" "g.85970884A>G" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.84211128A>G" "" "likely pathogenic (recessive)" "" "0000764939" "2" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic (recessive)" "" "0000765742" "0" "70" "10" "85960394" "85960394" "subst" "0" "00000" "CDHR1_000117" "g.85960394C>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.84200638C>A" "" "likely pathogenic" "" "0000765747" "0" "70" "10" "85971454" "85971454" "subst" "0" "00000" "CDHR1_000119" "g.85971454T>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.84211698T>A" "" "likely pathogenic" "" "0000765778" "0" "70" "10" "85962805" "85962805" "del" "0" "00000" "CDHR1_000118" "g.85962805del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.84203049del" "" "likely pathogenic" "" "0000766037" "3" "90" "10" "85973884" "85973887" "del" "0" "00006" "CDHR1_000116" "g.85973884_85973887del" "" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}" "" "2087_2090delACAA" "" "Germline" "" "" "0" "" "" "g.84214128_84214131del" "" "pathogenic (recessive)" "" "0000766071" "3" "70" "10" "85954517" "85954517" "subst" "8.828E-6" "00006" "CDHR1_000048" "g.85954517A>T" "" "{PMID:Beryozkin 2015:26306921}" "" "1T>G (M1L)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000787685" "3" "70" "10" "85968083" "85968083" "subst" "0" "00000" "CDHR1_000108" "g.85968083C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.84208327C>T" "" "likely pathogenic" "" "0000788521" "0" "50" "10" "85955300" "85955300" "subst" "4.062E-5" "00000" "CDHR1_000120" "g.85955300A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A106G" "" "Germline" "" "rs200661366" "0" "" "" "g.84195544A>G" "" "VUS" "" "0000790485" "0" "50" "10" "85974270" "85974270" "subst" "0.00351611" "00000" "CDHR1_000036" "g.85974270C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs201515900" "0" "" "" "g.84214514C>A" "" "VUS" "" "0000790572" "0" "50" "10" "85968528" "85968528" "subst" "7.30935E-5" "00000" "CDHR1_000121" "g.85968528G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.84208772G>A" "" "VUS" "" "0000790597" "0" "50" "10" "85974349" "85974351" "del" "0" "00000" "CDHR1_000070" "g.85974349_85974351del" "" "{PMID:Wang 2014:25097241}" "" "c.2552_2554delAGA" "" "Germline" "" "rs150926842" "0" "" "" "g.84214593_84214595del" "" "VUS" "" "0000791906" "3" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000122" "g.85960442dupA" "" "{PMID:Ostergaard 2010:20805371}" "" "PCDH21: c.524dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791907" "3" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000122" "g.85960442dupA" "" "{PMID:Ostergaard 2010:20805371}" "" "PCDH21: c.524dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791908" "3" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000122" "g.85960442dupA" "" "{PMID:Ostergaard 2010:20805371}" "" "PCDH21: c.524dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791909" "3" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000122" "g.85960442dupA" "" "{PMID:Ostergaard 2010:20805371}" "" "PCDH21: c.524dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791910" "3" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000122" "g.85960442dupA" "" "{PMID:Ostergaard 2010:20805371}" "" "PCDH21: c.524dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791911" "3" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000122" "g.85960442dupA" "" "{PMID:Ostergaard 2010:20805371}" "" "PCDH21: c.524dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794294" "0" "90" "10" "85968007" "85968007" "del" "0" "00000" "CDHR1_000123" "g.85968007del" "" "{PMID:Wang 2018:30029497}" "" "NM_033100.3:c.1041del, NP_149091.1:p.(Asn347LysfsTer21), NC_000010.10:g.85968007del" "" "Germline" "?" "" "0" "" "" "g.84208251del" "" "pathogenic" "ACMG" "0000794295" "0" "90" "10" "85970922" "85970922" "subst" "0" "00000" "CDHR1_000124" "g.85970922G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_033100.3:c.1485+1G>A, NP_149091.1:p.?, NC_000010.10:g.85970922G>A" "" "Germline" "?" "" "0" "" "" "g.84211166G>A" "" "pathogenic" "ACMG" "0000794729" "3" "90" "10" "85957582" "85957582" "del" "0" "00000" "CDHR1_000009" "g.85957582del" "" "{PMID:Patel 2018:30054919}" "" "NM_033100.3:c.338del;p.(Gly113Alafs*2)" "" "Germline" "yes" "" "0" "" "" "g.84197826del" "" "pathogenic (recessive)" "ACMG" "0000795662" "0" "70" "10" "85958859" "85958859" "subst" "0" "00000" "CDHR1_000125" "g.85958859T>A" "" "{PMID:Nair 2018:30293248}" "" "NM_033100.3:c.420T>A; p.Tyr140*" "" "Unknown" "?" "" "0" "" "" "g.84199103T>A" "" "likely pathogenic" "" "0000796794" "0" "90" "10" "85968519" "85968519" "subst" "0" "00000" "CDHR1_000127" "g.85968519G>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1202G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796795" "0" "70" "10" "85968519" "85968519" "subst" "0" "00000" "CDHR1_000127" "g.85968519G>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1202G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796862" "0" "70" "10" "85962816" "85962816" "subst" "6.9031E-5" "00000" "CDHR1_000126" "g.85962816G>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.720G>C" "" "Germline" "" "rs149002238" "0" "" "" "" "" "likely pathogenic" "" "0000796923" "3" "90" "10" "85973091" "85973091" "subst" "0.000329183" "00000" "CDHR1_000003" "g.85973091T>A" "" "{PMID:Wang-2014:24154662}" "" "c.2027T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797088" "0" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Birtel 2018:30543658}" "" "c.2522_2528delTCTCTGA, p.Ile841Serfs*119" "Homozygous" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "ACMG" "0000797193" "0" "50" "10" "85961671" "85961671" "subst" "0.000122979" "00000" "CDHR1_000128" "g.85961671G>A" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.634G>A/p.A212T, allele 2: c.1132C>T/p.R378W" "heterozygous" "Germline" "?" "" "0" "" "" "g.84201915G>A" "" "VUS" "ACMG" "0000797212" "0" "50" "10" "85968098" "85968098" "subst" "7.31808E-5" "00000" "CDHR1_000129" "g.85968098C>T" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.634G>A/p.A212T, allele 2: c.1132C>T/p.R378W" "heterozygous" "Germline" "?" "" "0" "" "" "g.84208342C>T" "" "VUS" "ACMG" "0000797559" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDHR1 c.2522_2528del, p.(Ile841Serfs*119), c.2522_2528del, p.(Ile841Serfs*119)" "homozygous" "Germline" "?" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "ACMG" "0000797966" "0" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000100" "g.85960442dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDHR1 c.524dup, p.(Asn176Glufs*48)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.84200686dup" "" "pathogenic" "ACMG" "0000797967" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDHR1 c.783G>A, p.(Pro261Pro)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000804586" "0" "30" "10" "85955266" "85955266" "subst" "0" "01943" "CDHR1_000130" "g.85955266C>A" "" "" "" "CDHR1(NM_033100.4):c.72C>A (p.A24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804588" "0" "50" "10" "85971970" "85971970" "subst" "0.000158367" "02325" "CDHR1_000131" "g.85971970C>G" "" "" "" "CDHR1(NM_033100.4):c.1589C>G (p.T530S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811863" "0" "70" "2" "85961671" "85961671" "subst" "0" "00000" "CDHR1_000128" "g.85961671G>A" "" "{PMID:Gao 2019:31054281}" "" "c.634G>A, p.Ala212Thr" "heterozygous" "Germline" "?" "" "0" "" "" "g.84201915G>A" "" "likely pathogenic" "" "0000812135" "0" "70" "10" "85960394" "85960394" "subst" "0" "00000" "CDHR1_000117" "g.85960394C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CDHR1 Ex.6 c.476C>A p.(Ala159Glu), IVS13 c.1485+2T>C p.(?)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84200638C>A" "" "likely pathogenic" "" "0000812136" "0" "70" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Martin Merida 2019:30902645}" "" "CDHR1 Ex.6 c.476C>A p.(Ala159Glu), IVS13 c.1485+2T>C p.(?)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84211167T>C" "" "likely pathogenic" "" "0000813638" "3" "90" "10" "85964337" "85964337" "subst" "2.03042E-5" "00000" "CDHR1_000083" "g.85964337C>T" "" "{PMID:Xu 2020:31630094}" "" "CDHR1 NM_033100: g.9928C>T, c.838C>T, p.R280X" "" "Germline" "yes" "" "0" "" "" "g.84204581C>T" "" "pathogenic" "ACMG" "0000815317" "3" "90" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDHR1:NM_001171971 c.1485+2T>C, p.?" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "pathogenic" "ACMG" "0000815340" "3" "90" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDHR1:NM_001171971 c.1485+2T>C, p.?" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "pathogenic" "ACMG" "0000815362" "3" "90" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDHR1:NM_001171971 c.1485+2T>C, p.?" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "pathogenic" "ACMG" "0000815363" "3" "90" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.1485+2T>C; p.?" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "pathogenic" "ACMG" "0000815364" "3" "90" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.1485+2T>C; p.?" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "pathogenic" "ACMG" "0000815421" "0" "50" "10" "85974228" "85974228" "subst" "4.12517E-6" "00000" "CDHR1_000132" "g.85974228G>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDHR1:NM_033100 c.G2431C, p.V811L" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.84214472G>C" "" "VUS" "ACMG" "0000815456" "0" "50" "10" "85961593" "85961593" "subst" "0.00100541" "00000" "CDHR1_000016" "g.85961593C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDHR1:NM_001171971 c.C556T, p.H186Y" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.84201837C>T" "" "VUS" "ACMG" "0000815607" "0" "50" "10" "85968024" "85968024" "subst" "1.21848E-5" "00000" "CDHR1_000101" "g.85968024T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDHR1:NM_033100 c.T1058C, p.F353S" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.84208268T>C" "" "VUS" "ACMG" "0000815963" "0" "90" "10" "85956404" "85956404" "del" "0" "00000" "CDHR1_000134" "g.85956404del" "" "{PMID:Zampaglione 2020:32037395}" "" "CDHR1 c.295del, p.Glu99ArgfsTer16" "Predicted to alter splicing (PP3), which moves it from likely path to path. Unable to find in ClinVar or HGMD, heterozygous" "Unknown" "?" "" "0" "" "" "g.84196648del" "" "pathogenic" "" "0000816075" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "CDHR1 c.783G>A, p.Pro261=" "Predicted to disrupt splicing, seen in compound hetero w/ path variant in affected individual, functional study showed that variant leads to exon 8 skipping. Classified as VUS/likely path in ClinVar though the submissions are a little older., heterozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000816254" "0" "50" "10" "85965678" "85965685" "dup" "0" "00000" "CDHR1_000135" "g.85965678_85965685dup" "" "{PMID:Zampaglione 2020:32037395}" "" "CDHR1 c.958_963+2dup" "unsolved" "Unknown" "?" "" "0" "" "" "g.84205922_84205929dup" "" "VUS" "" "0000816314" "0" "70" "10" "85954517" "85954517" "subst" "1.7656E-5" "00000" "CDHR1_000133" "g.85954517A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1A>G, p.Met1?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84194761A>G" "" "likely pathogenic" "" "0000816406" "0" "90" "10" "85960442" "85960442" "dup" "0" "00000" "CDHR1_000100" "g.85960442dup" "" "{PMID:Zampaglione 2020:32037395}" "" "c.524dup, p.Asn176GlufsTer48" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84200686dup" "" "pathogenic" "" "0000816748" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Jauregui 2020:32098976}" "" "CDHR1 c.2522_2528del, p.I841SfsX11" "error in annotation: p.I841SfsX11 should be p.I841SfsX119, homozygous" "Unknown" "?" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "" "0000817632" "1" "70" "10" "85968615" "85968615" "del" "0" "00000" "CDHR1_000136" "g.85968615del" "" "{PMID:Zanolli 2020:32141364}" "" "CDHR1 c.1298delA; c.2108delG" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84208859del" "" "likely pathogenic" "" "0000817633" "2" "70" "10" "85973905" "85973905" "del" "0" "00000" "CDHR1_000137" "g.85973905del" "" "{PMID:Zanolli 2020:32141364}" "" "CDHR1 c.1298delA; c.2108delG" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84214149del" "" "likely pathogenic" "" "0000819389" "1" "70" "10" "85955249" "85955249" "subst" "1.2226E-5" "00000" "CDHR1_000138" "g.85955249G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.56-1G>A/p.?, variant 2: c.56-1G>A/p.?" "different transcript described in the paper: NM_001171971.2, solved, homozygous" "Germline" "yes" "" "0" "" "" "g.84195493G>A" "" "likely pathogenic" "" "0000819483" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.783G>A/p.?, variant 2: c.783G>A/p.?" "different transcript described in the paper: NM_001171971.2; probable splice change, solved, homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000819947" "1" "70" "10" "85956405" "85956405" "subst" "0" "00000" "CDHR1_000139" "g.85956405A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.296A>G/p.E99G, variant 2: c.296A>G/p.E99G" "different transcript described in the paper: NM_001171971.2, possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.84196649A>G" "" "likely pathogenic" "" "0000820041" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHDR1, variant 1: c.783G>A/p.?, variant 2: c.783G>A/p.?" "different transcript described in the paper: NM_001171971.2; probable splice change, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000820093" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.783G>A/p.?, variant 2: c.783G>A/p.?" "different transcript described in the paper: NM_001171971.2; probable splice change, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000820099" "1" "70" "10" "85972081" "85972081" "subst" "0" "00000" "CDHR1_000144" "g.85972081T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.1700T>C/p.L567P, variant 2: c.1700T>C/p.L567P" "different transcript described in the paper: NM_001171971.2, possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.84212325T>C" "" "likely pathogenic" "" "0000820180" "1" "70" "10" "85965648" "85965648" "subst" "0" "00000" "CDHR1_000142" "g.85965648C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.928C>T/p.Q310*, variant 2: c.2040+5G>T/p.?" "different transcript described in the paper: NM_001171971.2, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84205892C>T" "" "likely pathogenic" "" "0000820225" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.783G>A/p.?, variant 2: c.783G>A/p.?" "different transcript described in the paper: NM_001171971.2; probable splice change, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000820344" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1 : c.783G>A/p.?, variant 2: c.1311_1316del/p.L437_T438del" "different transcript described in the paper: NM_001171971.2; probable splice change, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000820493" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1 : c.783G>A/p.?, variant 2 : c.783G>A/p.?" "different transcript described in the paper: NM_001171971.2; probable splice change, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000820499" "1" "70" "10" "85961677" "85961677" "del" "0" "00000" "CDHR1_000140" "g.85961677del" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.639+1del/p.?, variant 2: c.2108G>A/p.G703D" "different transcript described in the paper: NM_001171971.2, possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84201921del" "" "likely pathogenic" "" "0000820835" "1" "70" "10" "85973109" "85973109" "subst" "4.06904E-6" "00000" "CDHR1_000146" "g.85973109G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.928C>T/p.Q310*, variant 2: c.2040+5G>T/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84213353G>T" "" "likely pathogenic" "" "0000820872" "1" "70" "10" "85968628" "85968633" "del" "0" "00000" "CDHR1_000143" "g.85968628_85968633del" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1 : c.783G>A/p.?, variant 2: c.1311_1316del/p.L437_T438del" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84208872_84208877del" "" "likely pathogenic" "" "0000820943" "1" "70" "10" "85973905" "85973905" "subst" "0" "00000" "CDHR1_000147" "g.85973905G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDHR1, variant 1: c.639+1del/p.?, variant 2: c.2108G>A/p.G703D" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.84214149G>A" "" "likely pathogenic" "" "0000821190" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Turro 2020:32581362}" "" "CDHR1 c.2522_2528delTCTCTGA, p.Ile841SerfsTer119" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "" "0000821191" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Turro 2020:32581362}" "" "CDHR1 c.2522_2528delTCTCTGA, p.Ile841SerfsTer119" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "" "0000821192" "3" "90" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Turro 2020:32581362}" "" "CDHR1 c.1463delG, p.Gly488AlafsTer20" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84211143del" "" "pathogenic" "" "0000821193" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Turro 2020:32581362}" "" "CDHR1 c.2522_2528delTCTCTGA, p.Ile841SerfsTer119" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "" "0000821194" "0" "70" "10" "85971445" "85971445" "subst" "4.06055E-6" "00000" "CDHR1_000090" "g.85971445T>G" "" "{PMID:Turro 2020:32581362}" "" "CDHR1 c.1527T>G, p.Tyr509Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84211689T>G" "" "likely pathogenic" "" "0000821195" "3" "70" "10" "85970884" "85970884" "subst" "0" "00000" "CDHR1_000088" "g.85970884A>G" "" "{PMID:Turro 2020:32581362}" "" "CDHR1 c.1448A>G, p.Glu483Gly" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84211128A>G" "" "likely pathogenic" "" "0000821531" "0" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Turro 2020:32581362}" "" "CDHR1 c.2522_2528delTCTCTGA, p.Ile841SerfsTer119" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "" "0000822065" "3" "70" "10" "85965581" "85965582" "del" "0" "00000" "CDHR1_000141" "g.85965581_85965582del" "" "{PMID:Habibi 2020:32641690}" "" "CDHR1 c.[863-2_863-1delAG];[863-2_863-1delAG], -" "homozygous" "Germline" "?" "" "0" "" "" "g.84205825_84205826del" "" "likely pathogenic" "" "0000822149" "3" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Arno-2016:27623334}" "" "p.Gly113Alafs*1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822150" "3" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Arno-2016:27623334}" "" "p.Gly487Glyfs*20" "previously reported as p.Gly487-Glyfs*20)" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822151" "3" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Arno-2016:27623334}" "" "p.Gln175Glnfs*47" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822152" "3" "70" "10" "85970923" "85970923" "subst" "4.06339E-6" "00000" "CDHR1_000045" "g.85970923T>G" "" "{PMID:Arno-2016:27623334}" "" "c.1485+2T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822153" "3" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Arno-2016:27623334}" "" "p.Gln461*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822154" "3" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Arno-2016:27623334}" "" "p.Gly488Alafs*20" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822155" "3" "70" "10" "85972101" "85972101" "subst" "0" "00000" "CDHR1_000145" "g.85972101C>G" "" "{PMID:Arno-2016:27623334}" "" "p.Pro574Ala" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822156" "3" "70" "10" "85970923" "85970923" "subst" "4.06339E-6" "00000" "CDHR1_000045" "g.85970923T>G" "" "{PMID:Arno-2016:27623334}" "" "c.1485+2T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822157" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Arno-2016:27623334}" "" "c.2522_2528delTCTCTGA" "Chr10:g.85974319_85974325del" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822159" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Arno-2016:27623334}" "" "c.2522_2528delTCTCTGA" "Chr10:g.85974319_85974325del" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822161" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Arno-2016:27623334}" "" "c.2522_2528delTCTCTGA" "Chr10:g.85974319_85974325del" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822163" "3" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Arno-2016:27623334}" "" "c.1463delG; p.Gly488Alafs*20" "previously reported as p.Gly487-Glyfs*20)" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822164" "0" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Arno-2016:27623334}" "" "c.1463delG; p.Gly488Alafs*20" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822165" "0" "70" "10" "85971445" "85971445" "subst" "4.06055E-6" "00000" "CDHR1_000090" "g.85971445T>G" "" "{PMID:Arno-2016:27623334}" "" "c.1527T>G" "Chr10:g.85971445T>G" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822166" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Arno-2016:27623334}" "" "c.2522_2528delTCTCTGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822342" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.783G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822343" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.783G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822470" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.783G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822471" "0" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Maggi_2021:33546218}" "" "c.2522_2528del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822678" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Gliem 2020:32646556}" "" "CDHR1 c.783G>A, splice site" "homozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000822679" "3" "70" "10" "85971421" "85971425" "del" "0" "00000" "CDHR1_000096" "g.85971421_85971425del" "" "{PMID:Gliem 2020:32646556}" "" "CDHR1 c.1503_1507del, p.Gly502Leufs*32" "homozygous" "Unknown" "?" "" "0" "" "" "g.84211665_84211669del" "" "likely pathogenic" "" "0000822680" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Gliem 2020:32646556}" "" "CDHR1 c.783G>A, splice site" "homozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000822681" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Gliem 2020:32646556}" "" "CDHR1 c.783G>A, splice site" "homozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000822682" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Gliem 2020:32646556}" "" "CDHR1 c.783G>A splice site,c.2522_2528del, p.Ile841Serfs*119" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000822745" "0" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Gliem 2020:32646556}" "" "CDHR1 c.783G>A c.2522_2528del, splice site p.Ile841Serfs*119" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "" "0000822945" "3" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Méjécase 2020:32783370}" "" "CDHR1 Deletion of the first six coding exons" "homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000824656" "0" "50" "10" "85958825" "85958825" "subst" "1.33998E-5" "00000" "CDHR1_000115" "g.85958825A>G" "" "{PMID:Ma 2021:33691693}" "" "CDHR1 c.A386G, p.N129S" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.84199069A>G" "" "VUS" "ACMG" "0000824684" "0" "70" "10" "85961638" "85961638" "subst" "0.000178924" "00000" "CDHR1_000094" "g.85961638G>A" "" "{PMID:Ma 2021:33691693}" "" "CDHR1 c.G601A, p.E201K" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.84201882G>A" "" "likely pathogenic" "ACMG" "0000824726" "0" "50" "10" "85973091" "85973091" "subst" "0.000329183" "00000" "CDHR1_000003" "g.85973091T>A" "" "{PMID:Ma 2021:33691693}" "" "CDHR1 c.T2027A, p.I676N" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.84213335T>A" "" "VUS" "ACMG" "0000824739" "0" "30" "10" "85961608" "85961608" "subst" "0.00215943" "00000" "CDHR1_000041" "g.85961608C>T" "" "{PMID:Ma 2021:33691693}" "" "CDHR1 c.C571T, p.R191C" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.84201852C>T" "" "likely benign" "ACMG" "0000824803" "0" "50" "10" "85973091" "85973091" "subst" "0.000329183" "00000" "CDHR1_000003" "g.85973091T>A" "" "{PMID:Ma 2021:33691693}" "" "CDHR1 c.T2027A, p.I676N" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.84213335T>A" "" "VUS" "ACMG" "0000825740" "0" "70" "10" "85968007" "85968007" "del" "0" "00000" "CDHR1_000123" "g.85968007del" "" "{PMID:Liu-2020:33090715}" "" "c.1041delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825741" "0" "70" "10" "85970922" "85970922" "subst" "0" "00000" "CDHR1_000124" "g.85970922G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1485+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827193" "3" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Colombo-2020:33576794}" "" "c.2522_2528del" "" "Germline" "" "rs794727197" "0" "" "" "" "" "pathogenic (recessive)" "" "0000828560" "3" "70" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Mermeklieva 2021:34229535}" "" "CDHR1 c.2522_2528delTCTCTGA, (p.Ile841Serfs119*)" "" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "likely pathogenic" "" "0000828857" "0" "50" "10" "85961638" "85961638" "subst" "0.000178924" "00000" "CDHR1_000094" "g.85961638G>A" "" "{PMID:Chen 2021:43360855}" "" "CDHR1 c.[601G>A];[?], V1: c.601G>A, (p.Glu201Lys)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.84201882G>A" "" "VUS" "ACMG" "0000828922" "0" "50" "10" "85973091" "85973091" "subst" "0.000329183" "00000" "CDHR1_000003" "g.85973091T>A" "" "{PMID:Chen 2021:43360855}" "" "CDHR1 c.[2027T>A];[?], V1: c.2027T>A, (p.Ile676Asn)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.84213335T>A" "" "VUS" "ACMG" "0000852601" "0" "30" "10" "85972856" "85972856" "subst" "0.000398303" "02330" "CDHR1_000068" "g.85972856G>A" "" "" "" "CDHR1(NM_033100.4):c.1792G>A (p.E598K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862009" "0" "50" "10" "85964332" "85964332" "subst" "0.0002071" "01943" "CDHR1_000148" "g.85964332C>T" "" "" "" "CDHR1(NM_033100.4):c.833C>T (p.P278L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862010" "0" "50" "10" "85968485" "85968485" "subst" "1.2183E-5" "01943" "CDHR1_000149" "g.85968485G>A" "" "" "" "CDHR1(NM_033100.4):c.1168G>A (p.G390R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862011" "0" "30" "10" "85972841" "85972841" "subst" "0.000101726" "02330" "CDHR1_000150" "g.85972841G>A" "" "" "" "CDHR1(NM_033100.4):c.1783-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871952" "0" "50" "10" "85961671" "85961671" "subst" "0.000122979" "00000" "CDHR1_000128" "g.85961671G>A" "" "{PMID:Bolz 2005:16288196}" "" "CDHR1 p.A212T" "no nucleotide annotation, extrapolated from protein and databases; heterozygous carrier" "Unknown" "?" "" "0" "" "" "g.84201915G>A" "" "VUS" "" "0000871953" "0" "50" "10" "85971975" "85971975" "subst" "0.000125879" "00000" "CDHR1_000151" "g.85971975C>G" "" "{PMID:Bolz 2005:16288196}" "" "CDHR1 p.P532A" "no nucleotide annotation, extrapolated from protein and databases; heterozygous carrier" "Unknown" "?" "" "0" "" "" "g.84212219C>G" "" "VUS" "" "0000871954" "3" "70" "10" "85957582" "85957582" "del" "0" "00000" "CDHR1_000009" "g.85957582del" "" "{PMID:Henderson 2010:20087419}" "" "PCDH21 c.337delG (p.G113AfsX1)" "error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo" "Germline" "yes" "" "0" "" "" "g.84197826del" "" "likely pathogenic (recessive)" "" "0000871955" "3" "70" "10" "85957582" "85957582" "del" "0" "00000" "CDHR1_000009" "g.85957582del" "" "{PMID:Henderson 2010:20087419}" "" "PCDH21 c.337delG (p.G113AfsX1)" "error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo" "Germline" "yes" "" "0" "" "" "g.84197826del" "" "likely pathogenic (recessive)" "" "0000871956" "3" "70" "10" "85957582" "85957582" "del" "0" "00000" "CDHR1_000009" "g.85957582del" "" "{PMID:Henderson 2010:20087419}" "" "PCDH21 c.337delG (p.G113AfsX1)" "error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo" "Germline" "yes" "" "0" "" "" "g.84197826del" "" "likely pathogenic (recessive)" "" "0000871957" "3" "70" "10" "85957582" "85957582" "del" "0" "00000" "CDHR1_000009" "g.85957582del" "" "{PMID:Henderson 2010:20087419}" "" "PCDH21 c.337delG (p.G113AfsX1)" "error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo" "Germline" "yes" "" "0" "" "" "g.84197826del" "" "likely pathogenic (recessive)" "" "0000871958" "3" "70" "10" "85957582" "85957582" "del" "0" "00000" "CDHR1_000009" "g.85957582del" "" "{PMID:Henderson 2010:20087419}" "" "PCDH21 c.1459delG (p.G487GfsX20)" "error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.1459delG to c.1463delG; homozygo" "Germline" "yes" "" "0" "" "" "g.84197826del" "" "likely pathogenic (recessive)" "" "0000871960" "3" "70" "10" "85970817" "85970817" "subst" "0" "00000" "CDHR1_000049" "g.85970817C>T" "" "{PMID:Duncan 2012:23044944}" "" "CDHR1 c.1381 C>T, p.Gln461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211061C>T" "" "likely pathogenic (recessive)" "" "0000871961" "3" "70" "10" "85970817" "85970817" "subst" "0" "00000" "CDHR1_000049" "g.85970817C>T" "" "{PMID:Duncan 2012:23044944}" "" "CDHR1 c.1381 C>T, p.Gln461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211061C>T" "" "likely pathogenic (recessive)" "" "0000871962" "3" "70" "10" "85970817" "85970817" "subst" "0" "00000" "CDHR1_000049" "g.85970817C>T" "" "{PMID:Duncan 2012:23044944}" "" "CDHR1 c.1381 C>T, p.Gln461X" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211061C>T" "" "likely pathogenic (recessive)" "" "0000871963" "3" "70" "10" "85970923" "85970923" "subst" "4.06339E-6" "00000" "CDHR1_000045" "g.85970923T>G" "" "{PMID:Cohen 2012:23233793}" "" "CDHR1 c.1485+2T>G" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211167T>G" "" "likely pathogenic (recessive)" "" "0000871964" "3" "70" "10" "85970923" "85970923" "subst" "4.06339E-6" "00000" "CDHR1_000045" "g.85970923T>G" "" "{PMID:Cohen 2012:23233793}" "" "CDHR1 c.1485+2T>G" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211167T>G" "" "likely pathogenic (recessive)" "" "0000871965" "3" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Ba-Abbad 2013:24265541}" "" "CDHR1 c.1463delG, p.G488fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211143del" "" "likely pathogenic (recessive)" "" "0000871966" "3" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Ba-Abbad 2013:24265541}" "" "CDHR1 c.1463delG, p.G488fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211143del" "" "likely pathogenic (recessive)" "" "0000871967" "3" "70" "10" "85970899" "85970899" "del" "0" "00000" "CDHR1_000004" "g.85970899del" "" "{PMID:Ba-Abbad 2013:24265541}" "" "CDHR1 c.1463delG, p.G488fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211143del" "" "likely pathogenic (recessive)" "" "0000871970" "3" "70" "10" "85972101" "85972101" "subst" "0" "00000" "CDHR1_000145" "g.85972101C>G" "" "{PMID:Nikopoulos 2015:26350383}" "" "CDHR1 c.1720C> G, p.P57" "homozygous" "Germline" "yes" "" "0" "" "" "g.84212345C>G" "" "likely pathogenic (recessive)" "" "0000871971" "3" "70" "10" "85972101" "85972101" "subst" "0" "00000" "CDHR1_000145" "g.85972101C>G" "" "{PMID:Nikopoulos 2015:26350383}" "" "CDHR1 c.1720C> G, p.P57" "homozygous" "Germline" "yes" "" "0" "" "" "g.84212345C>G" "" "likely pathogenic (recessive)" "" "0000871972" "3" "70" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Nikopoulos 2015:26350383}" "" "CDHR1 c.1485+2T>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "likely pathogenic (recessive)" "" "0000871973" "3" "70" "10" "85970923" "85970923" "subst" "8.12678E-6" "00000" "CDHR1_000106" "g.85970923T>C" "" "{PMID:Nikopoulos 2015:26350383}" "" "CDHR1 c.1485+2T>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.84211167T>C" "" "likely pathogenic (recessive)" "" "0000871974" "3" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2522_2528del, p.I841Sfs*119" "homozygous" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "" "0000871975" "3" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2522_2528del, p.I841Sfs*119" "homozygous" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "" "0000871976" "3" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2522_2528del, p.I841Sfs*119" "homozygous" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "" "0000871977" "3" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2522_2528del, p.I841Sfs*119" "homozygous" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "" "0000871978" "11" "70" "10" "85970884" "85970884" "subst" "0" "00000" "CDHR1_000088" "g.85970884A>G" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.1448 A >G, p.E483G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84211128A>G" "" "likely pathogenic" "" "0000871979" "11" "70" "10" "85970884" "85970884" "subst" "0" "00000" "CDHR1_000088" "g.85970884A>G" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.1448 A >G, p.E483G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84211128A>G" "" "likely pathogenic" "" "0000871980" "1" "90" "10" "85965648" "85965648" "subst" "0" "00000" "CDHR1_000142" "g.85965648C>T" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.928 C>T, p.Q310*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84205892C>T" "" "pathogenic" "" "0000871981" "3" "50" "10" "85956405" "85956405" "subst" "0" "00000" "CDHR1_000139" "g.85956405A>G" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.296 A >G, p.E99G" "homozygous" "Germline" "yes" "" "0" "" "" "g.84196649A>G" "" "VUS" "" "0000871982" "3" "50" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.783 G >A, p.P261P/p.?" "skipping of exon 8; homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "VUS" "" "0000871983" "3" "90" "10" "85955249" "85955249" "subst" "1.2226E-5" "00000" "CDHR1_000138" "g.85955249G>A" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.56-1 G >A, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.84195493G>A" "" "pathogenic" "" "0000871984" "0" "90" "10" "85961677" "85961677" "del" "0" "00000" "CDHR1_000140" "g.85961677del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.639+1delG, p.?" "skipping of exon 8; heterozygous" "Unknown" "?" "" "0" "" "" "g.84201921del" "" "pathogenic" "" "0000871985" "1" "50" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.783 G >A, p.P261P/p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "VUS" "" "0000871986" "3" "50" "10" "85972081" "85972081" "subst" "0" "00000" "CDHR1_000144" "g.85972081T>C" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.1700T>C, p.L567P" "homozygous" "Germline" "yes" "" "0" "" "" "g.84212325T>C" "" "VUS" "" "0000871987" "21" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2522_2528del, p.I841Sfs*119" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "" "0000871988" "21" "90" "10" "85974319" "85974325" "del" "0" "00000" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2522_2528del, p.I841Sfs*119" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "" "0000871989" "2" "70" "10" "85973109" "85973109" "subst" "4.06904E-6" "00000" "CDHR1_000146" "g.85973109G>T" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2040+5 G>T, p.?" "skipping of exon 16; heterozygous" "Germline" "yes" "" "0" "" "" "g.84213353G>T" "" "likely pathogenic" "" "0000871990" "0" "50" "10" "85973905" "85973905" "subst" "0" "00000" "CDHR1_000147" "g.85973905G>A" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.2108 G >A, p.G703D" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84214149G>A" "" "VUS" "" "0000871991" "2" "70" "10" "85968628" "85968633" "del" "0" "00000" "CDHR1_000143" "g.85968628_85968633del" "" "{PMID:Stingl 2017:28765526}" "" "CDHR1 c.1311_1316del, p.L437_T438del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84208872_84208877del" "" "likely pathogenic" "" "0000871992" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Bessette 2018:28885867}" "" "CDHR1 c.783G>A (p.Pro261 = )" "homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000871993" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Bessette 2018:28885867}" "" "CDHR1 c.783G>A (p.Pro261 = )" "homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000871994" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Bessette 2018:28885867}" "" "CDHR1 c.783G>A (p.Pro261 = )" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000871995" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Bessette 2018:28885867}" "" "CDHR1 c.783G>A (p.Pro261 = )" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000871996" "2" "70" "10" "85956259" "85956259" "subst" "0" "00000" "CDHR1_000153" "g.85956259A>G" "" "{PMID:Bessette 2018:28885867}" "" "CDHR1 c.783G>A c.152-2A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84196503A>G" "" "likely pathogenic" "" "0000871997" "2" "70" "10" "85956259" "85956259" "subst" "0" "00000" "CDHR1_000153" "g.85956259A>G" "" "{PMID:Bessette 2018:28885867}" "" "CDHR1 c.783G>A c.152-2A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84196503A>G" "" "likely pathogenic" "" "0000871999" "3" "70" "10" "85972022" "85972022" "subst" "0" "00000" "CDHR1_000157" "g.85972022T>A" "" "{PMID:Fu 2018:30160356}" "" "CDHR1 c.T1641A (p.Y547*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.84212266T>A" "" "likely pathogenic" "" "0000872000" "1" "70" "10" "85968072" "85968072" "dup" "0" "00000" "CDHR1_000155" "g.85968072dup" "" "{PMID:Haque 2019:30992995}" "" "CDHR1 c.1106dup (p.H370Afs*17)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84208316dup" "" "likely pathogenic" "" "0000872001" "1" "70" "10" "85968072" "85968072" "dup" "0" "00000" "CDHR1_000155" "g.85968072dup" "" "{PMID:Haque 2019:30992995}" "" "CDHR1 c.1106dup (p.H370Afs*17)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84208316dup" "" "likely pathogenic" "" "0000872002" "2" "70" "10" "85973091" "85973091" "subst" "0.000329183" "00000" "CDHR1_000003" "g.85973091T>A" "" "{PMID:Haque 2019:30992995}" "" "CDHR1 c.2027 T > A (p.I676N)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84213335T>A" "" "likely pathogenic" "" "0000872003" "2" "70" "10" "85973091" "85973091" "subst" "0.000329183" "00000" "CDHR1_000003" "g.85973091T>A" "" "{PMID:Haque 2019:30992995}" "" "CDHR1 c.2027 T > A (p.I676N)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84213335T>A" "" "likely pathogenic" "" "0000872004" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.783G>A (p.Pro261 = )" "homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000872005" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.783G>A (p.Pro261 = )" "homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000872006" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.783G>A (p.Pro261 = )" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000872007" "10" "70" "10" "85954534" "85954534" "subst" "1.70888E-5" "00000" "CDHR1_000152" "g.85954534G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.18G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84194778G>A" "" "likely pathogenic" "" "0000872008" "0" "70" "10" "85971951" "85971973" "del" "0" "00000" "CDHR1_000156" "g.85971951_85971973del" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.1570_1592del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84212195_84212217del" "" "likely pathogenic" "" "0000872009" "21" "70" "10" "85958878" "85958878" "subst" "0" "00000" "CDHR1_000154" "g.85958878G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.438+1G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84199122G>A" "" "likely pathogenic" "" "0000872139" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.783G>A (p.Pro261 = )" "homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000872140" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.783G>A (p.Pro261 = )" "homozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000872141" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.783G>A (p.Pro261 = )" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000872142" "10" "70" "10" "85954534" "85954534" "subst" "1.70888E-5" "00000" "CDHR1_000152" "g.85954534G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.18G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84194778G>A" "" "likely pathogenic" "" "0000872143" "0" "70" "10" "85971951" "85971973" "del" "0" "00000" "CDHR1_000156" "g.85971951_85971973del" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.1570_1592del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.84212195_84212217del" "" "likely pathogenic" "" "0000872144" "21" "70" "10" "85958878" "85958878" "subst" "0" "00000" "CDHR1_000154" "g.85958878G>A" "" "{PMID:Chabel Issa 2019:31387115}" "" "CDHR1 c.438+1G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84199122G>A" "" "likely pathogenic" "" "0000881417" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000881418" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000889269" "0" "50" "10" "85956405" "85956405" "subst" "0" "02327" "CDHR1_000139" "g.85956405A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889270" "0" "10" "10" "85961608" "85961608" "subst" "0.00215943" "02330" "CDHR1_000041" "g.85961608C>T" "" "" "" "CDHR1(NM_033100.4):c.571C>T (p.R191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889271" "0" "50" "10" "85973091" "85973091" "subst" "0.000329183" "02327" "CDHR1_000003" "g.85973091T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896674" "0" "50" "10" "85973091" "85973091" "subst" "0.000329183" "00000" "CDHR1_000003" "g.85973091T>A" "Taiwan Biobank: 0.004614; GnomAD_exome_East: 0.00446; GnomAD_All: 0.000342" "{PMID:Chen 2021:33608557}" "" "CDHR1 c.[2027T>A];[?]; p.(Ile676Asn)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.84213335T>A" "" "VUS" "" "0000896691" "0" "50" "10" "85961638" "85961638" "subst" "0.000178924" "00000" "CDHR1_000094" "g.85961638G>A" "Taiwan Biobank: 0.001648; GnomAD_exome_East: 0.0018; GnomAD_All: 0.000176" "{PMID:Chen 2021:33608557}" "" "CDHR1 c.[601G>A];[?]; p.(Glu201Lys)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.84201882G>A" "" "VUS" "" "0000897826" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.783G>A, p.(Pro261=)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000897827" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.783G>A, p.(Pro261=)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000897828" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.783G>A, p.(Pro261=)" "heterozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000897829" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.783G>A, p.(Pro261=)" "homozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000897830" "21" "70" "10" "85956407" "85956407" "subst" "8.12123E-6" "00000" "CDHR1_000159" "g.85956407G>T" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.297+1G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84196651G>T" "" "likely pathogenic" "" "0000897831" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.783G>A, p.(Pro261=)" "heterozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000897832" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00000" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.783G>A, p.(Pro261=)" "heterozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "" "0000897833" "0" "70" "10" "85961599" "85961599" "subst" "7.01349E-5" "00000" "CDHR1_000160" "g.85961599G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.562G>A, p.(Gly188Ser)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84201843G>A" "" "likely pathogenic" "" "0000897834" "0" "70" "10" "85961599" "85961599" "subst" "7.01349E-5" "00000" "CDHR1_000160" "g.85961599G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.562G>A, p.(Gly188Ser)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84201843G>A" "" "likely pathogenic" "" "0000897835" "0" "70" "10" "85961599" "85961599" "subst" "7.01349E-5" "00000" "CDHR1_000160" "g.85961599G>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.562G>A, p.(Gly188Ser)" "heterozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.84201843G>A" "" "likely pathogenic" "" "0000897836" "11" "70" "10" "85974000" "85974000" "subst" "8.14365E-6" "00000" "CDHR1_000161" "g.85974000C>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.2203C>A, p.(Pro735Thr)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.84214244C>A" "" "likely pathogenic" "" "0000897837" "0" "70" "10" "85954517" "85954517" "subst" "1.7656E-5" "00000" "CDHR1_000133" "g.85954517A>G" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.1A>G p.(Met1?)" "heterozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.84194761A>G" "" "likely pathogenic" "" "0000897838" "0" "70" "10" "85970809" "85970809" "subst" "4.06065E-6" "00000" "CDHR1_000045" "g.85970809T>A" "" "{PMID:Ba-Abbad 2021:32681094}" "" "CDHR1 c.1373T>A, p.(Val458Asp)" "heterozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.84211053T>A" "" "likely pathogenic" "" "0000897839" "3" "70" "10" "85968548" "85968548" "subst" "0" "00000" "CDHR1_000158" "g.85968548C>T" "" "{PMID:Gan 2020:32277948}" "" "CDHR1 c.1231C > T (p.Q411X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.84208792C>T" "" "likely pathogenic" "" "0000897840" "3" "70" "10" "85968548" "85968548" "subst" "0" "00000" "CDHR1_000158" "g.85968548C>T" "" "{PMID:Gan 2020:32277948}" "" "CDHR1 c.1231C > T (p.Q411X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.84208792C>T" "" "likely pathogenic" "" "0000897841" "3" "70" "10" "85968548" "85968548" "subst" "0" "00000" "CDHR1_000158" "g.85968548C>T" "" "{PMID:Gan 2020:32277948}" "" "CDHR1 c.1231C > T (p.Q411X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.84208792C>T" "" "likely pathogenic" "" "0000925202" "0" "50" "10" "85964332" "85964332" "subst" "0.0002071" "02330" "CDHR1_000148" "g.85964332C>T" "" "" "" "CDHR1(NM_033100.4):c.833C>T (p.P278L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925203" "0" "70" "10" "85970755" "85970755" "subst" "0" "02329" "CDHR1_000162" "g.85970755A>G" "" "" "" "CDHR1(NM_033100.4):c.1321-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000944531" "3" "90" "10" "85963939" "86022743" "delins" "0" "04542" "CDHR1_000163" "g.85963939_86022743delins85964584_86021446inv" "" "{PMID:de Bruijn 2023:36524988}" "" "" "" "Germline" "" "" "0" "" "" "g.84204183_84262987delins84204828_84261690inv" "" "pathogenic (recessive)" "" "0000958075" "3" "90" "10" "85974319" "85974325" "del" "0" "00006" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic (recessive)" "ACMG" "0000958227" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000958237" "0" "90" "10" "85970817" "85970817" "subst" "0" "00006" "CDHR1_000049" "g.85970817C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.84211061C>T" "" "pathogenic (recessive)" "ACMG" "0000958240" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000958244" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000958333" "3" "90" "10" "85974319" "85974325" "del" "0" "00006" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "194793" "pathogenic (recessive)" "ACMG" "0000958575" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000958903" "3" "50" "10" "85956405" "85956405" "subst" "0" "00006" "CDHR1_000139" "g.85956405A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.84196649A>G" "" "VUS" "ACMG" "0000959006" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000959007" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000959029" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000959053" "0" "90" "10" "85974319" "85974325" "del" "0" "00006" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS4, PM2, PVS1, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "194793" "pathogenic (recessive)" "ACMG" "0000959054" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000959350" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000959365" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000959409" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.84203123G>A" "301224" "likely pathogenic (recessive)" "ACMG" "0000965882" "0" "90" "10" "85954517" "85954517" "subst" "1.7656E-5" "02327" "CDHR1_000133" "g.85954517A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965883" "0" "30" "10" "85956268" "85956268" "subst" "0.000101518" "02330" "CDHR1_000164" "g.85956268C>T" "" "" "" "CDHR1(NM_033100.4):c.159C>T (p.H53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965884" "0" "50" "10" "85962785" "85962785" "subst" "0.000377653" "02327" "CDHR1_000059" "g.85962785C>T" "" "" "" "CDHR1(NM_033100.4):c.689C>T (p.T230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965885" "0" "50" "10" "85970790" "85970790" "subst" "6.49736E-5" "02327" "CDHR1_000165" "g.85970790T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979187" "0" "30" "10" "85973906" "85973906" "subst" "0" "02330" "CDHR1_000166" "g.85973906T>A" "" "" "" "CDHR1(NM_033100.4):c.2109T>A (p.G703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986315" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986316" "3" "70" "10" "85954391" "85954572" "del" "0" "04405" "CDHR1_000167" "g.(?_85954391)_(85954572_85955249)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.-126_(55+1_56-1)del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000986317" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986318" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986319" "1" "50" "10" "85955337" "85955337" "subst" "0.000402816" "04405" "CDHR1_000078" "g.85955337C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84195581C>A" "" "VUS" "ACMG" "0000986320" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986321" "1" "50" "10" "85956405" "85956405" "subst" "0" "04405" "CDHR1_000139" "g.85956405A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84196649A>G" "" "VUS" "ACMG" "0000986322" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986323" "3" "50" "10" "85961638" "85961638" "subst" "0.000178924" "04405" "CDHR1_000094" "g.85961638G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84201882G>A" "" "VUS" "ACMG" "0000986324" "1" "50" "10" "85961599" "85961599" "subst" "7.01349E-5" "04405" "CDHR1_000160" "g.85961599G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84201843G>A" "" "VUS" "ACMG" "0000986325" "1" "90" "10" "85962864" "85962864" "subst" "0" "04405" "CDHR1_000170" "g.85962864C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203108C>G" "" "pathogenic" "ACMG" "0000986326" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986327" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986328" "1" "50" "10" "85961638" "85961638" "subst" "0.000178924" "04405" "CDHR1_000094" "g.85961638G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84201882G>A" "" "VUS" "ACMG" "0000986329" "1" "50" "10" "85972911" "85972911" "subst" "0" "04405" "CDHR1_000176" "g.85972911C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84213155C>T" "" "VUS" "ACMG" "0000986330" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986331" "3" "90" "10" "85974319" "85974325" "del" "0" "04405" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "ACMG" "0000986332" "1" "70" "10" "85965586" "85965592" "delins" "0" "04405" "CDHR1_000173" "g.85965586_85965592delinsN[15]" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84205830_84205836delinsN{15]" "" "likely pathogenic" "ACMG" "0000986333" "3" "50" "10" "85970809" "85970809" "subst" "4.06065E-6" "04405" "CDHR1_000045" "g.85970809T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84211053T>A" "" "VUS" "ACMG" "0000986334" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986335" "1" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986336" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986337" "3" "50" "10" "85970809" "85970809" "subst" "4.06065E-6" "04405" "CDHR1_000045" "g.85970809T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84211053T>A" "" "VUS" "ACMG" "0000986338" "1" "50" "10" "85955337" "85955337" "subst" "0.000402816" "04405" "CDHR1_000078" "g.85955337C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84195581C>A" "" "VUS" "ACMG" "0000986339" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986340" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986341" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986342" "3" "90" "10" "85974319" "85974325" "del" "0" "04405" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "ACMG" "0000986343" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986344" "3" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986875" "2" "50" "10" "85973043" "85973043" "subst" "4.06095E-6" "04405" "CDHR1_000050" "g.85973043A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84213287A>T" "" "VUS" "ACMG" "0000986876" "2" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000986877" "2" "90" "10" "85970923" "85970923" "subst" "4.06339E-6" "04405" "CDHR1_000045" "g.85970923T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84211167T>G" "" "pathogenic" "ACMG" "0000986878" "2" "70" "10" "85965582" "85974378" "del" "0" "04405" "CDHR1_000172" "g.(85964362_85965582)_(85974378_85978450)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000986879" "2" "90" "10" "85968536" "85968536" "subst" "4.06105E-6" "04405" "CDHR1_000174" "g.85968536C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84208780C>T" "" "pathogenic" "ACMG" "0000986880" "2" "50" "10" "85970910" "85970910" "subst" "3.24995E-5" "04405" "CDHR1_000175" "g.85970910G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84211154G>C" "" "VUS" "ACMG" "0000986881" "2" "50" "10" "85962796" "85962796" "subst" "0.000190851" "04405" "CDHR1_000169" "g.85962796G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203040G>A" "" "VUS" "ACMG" "0000986882" "2" "50" "10" "85973042" "85973042" "subst" "0" "04405" "CDHR1_000177" "g.85973042G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84213286G>A" "" "VUS" "ACMG" "0000986883" "2" "50" "10" "85955345" "85955345" "subst" "4.07329E-6" "04405" "CDHR1_000168" "g.85955345G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84195589G>A" "" "VUS" "ACMG" "0000986884" "2" "90" "10" "85965582" "85965582" "subst" "8.14531E-6" "04405" "CDHR1_000171" "g.85965582G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84205826G>A" "" "pathogenic" "ACMG" "0000986885" "2" "70" "10" "85962879" "85962879" "subst" "0.00288381" "04405" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000987232" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000987283" "0" "90" "10" "85974319" "85974325" "del" "0" "00006" "CDHR1_000046" "g.85974319_85974325del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.84214563_84214569del" "" "pathogenic" "ACMG" "0000987290" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000987320" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000987324" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000987331" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "00006" "CDHR1_000042" "g.85962879G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.84203123G>A" "" "likely pathogenic" "ACMG" "0000987701" "3" "30" "10" "85964284" "85964284" "subst" "5.27906E-5" "00006" "CDHR1_000178" "g.85964284G>A" "" "{PMID:Basharat 2024:38815792}" "" "" "" "Germline" "no" "" "0" "" "" "g.84204528G>A" "" "likely benign" "" "0001047037" "0" "70" "10" "85962879" "85962879" "subst" "0.00288381" "03779" "CDHR1_000042" "g.85962879G>A" "" "" "" "" "" "Unknown" "" "rs147346345" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CDHR1 ## Count = 429 "{{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}}" "0000019542" "00024225" "70" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "16" "0000088037" "00024225" "70" "1384" "0" "1392" "0" "c.1384_1392delinsG" "r.(?)" "p.(Leu462Aspfs*3)" "13" "0000140625" "00024225" "90" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Ala128Gly)" "5" "0000162811" "00024225" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000246960" "00024225" "50" "1979" "0" "1979" "0" "c.1979A>T" "r.(?)" "p.(Asp660Val)" "" "0000248630" "00024225" "10" "477" "0" "477" "0" "c.477A>G" "r.(?)" "p.(Ala159=)" "" "0000248631" "00024225" "10" "1662" "0" "1662" "0" "c.1662A>G" "r.(?)" "p.(Glu554=)" "" "0000249147" "00024225" "10" "2584" "0" "2584" "0" "c.*4A>G" "r.(=)" "p.(=)" "" "0000254829" "00024225" "30" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Asn623Ser)" "" "0000255989" "00024225" "50" "7156" "0" "7156" "0" "c.*4576A>C" "r.(=)" "p.(=)" "" "0000264473" "00024225" "10" "-1" "0" "-1" "0" "c.-1C>T" "r.(?)" "p.(=)" "" "0000264474" "00024225" "10" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(Ser357=)" "" "0000264475" "00024225" "10" "1212" "0" "1212" "0" "c.1212C>A" "r.(?)" "p.(Gly404=)" "" "0000264476" "00024225" "50" "1354" "0" "1354" "0" "c.1354T>C" "r.(?)" "p.(Phe452Leu)" "" "0000264477" "00024225" "30" "1431" "0" "1431" "0" "c.1431C>T" "r.(?)" "p.(Tyr477=)" "" "0000264478" "00024225" "10" "1461" "0" "1461" "0" "c.1461G>A" "r.(?)" "p.(Gly487=)" "" "0000264479" "00024225" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "" "0000264480" "00024225" "50" "1855" "0" "1855" "0" "c.1855G>T" "r.(?)" "p.(Val619Leu)" "" "0000264481" "00024225" "50" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Cys)" "" "0000264482" "00024225" "10" "2040" "17" "2040" "17" "c.2040+17G>A" "r.(=)" "p.(=)" "" "0000264483" "00024225" "50" "2189" "0" "2189" "0" "c.2189C>T" "r.(?)" "p.(Ser730Phe)" "" "0000264484" "00024225" "10" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Arg743=)" "" "0000264485" "00024225" "10" "2473" "0" "2473" "0" "c.2473C>A" "r.(?)" "p.(Pro825Thr)" "" "0000264486" "00024225" "10" "348" "10" "348" "10" "c.348+10C>T" "r.(=)" "p.(=)" "" "0000264487" "00024225" "30" "526" "-7" "526" "-7" "c.526-7C>G" "r.(=)" "p.(=)" "" "0000264488" "00024225" "10" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Val183Met)" "" "0000264489" "00024225" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Gln193=)" "" "0000266607" "00024225" "10" "7142" "0" "7142" "0" "c.*4562G>A" "r.(=)" "p.(=)" "" "0000266608" "00024225" "10" "2439" "0" "2439" "0" "c.2439T>C" "r.(?)" "p.(Thr813=)" "" "0000272989" "00024225" "30" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(Ser357=)" "" "0000272990" "00024225" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Thr448=)" "" "0000272991" "00024225" "30" "1461" "0" "1461" "0" "c.1461G>A" "r.(?)" "p.(Gly487=)" "" "0000272992" "00024225" "50" "1861" "0" "1861" "0" "c.1861G>C" "r.(?)" "p.(Asp621His)" "" "0000272993" "00024225" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Val80=)" "" "0000272995" "00024225" "90" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Gly113AlafsTer2)" "" "0000272996" "00024225" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Asp127Asn)" "" "0000272997" "00024225" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000272998" "00024225" "30" "526" "-7" "526" "-7" "c.526-7C>G" "r.(=)" "p.(=)" "" "0000272999" "00024225" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(His186Tyr)" "" "0000273000" "00024225" "30" "784" "-3" "784" "-3" "c.784-3G>A" "r.spl?" "p.?" "" "0000273001" "00024225" "50" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "" "0000273002" "00024225" "50" "931" "0" "931" "0" "c.931C>A" "r.(?)" "p.(Leu311Ile)" "" "0000338826" "00024225" "10" "1662" "0" "1662" "0" "c.1662A>G" "r.(?)" "p.(Glu554=)" "" "0000338827" "00024225" "10" "2439" "0" "2439" "0" "c.2439T>C" "r.(?)" "p.(Thr813=)" "" "0000338828" "00024225" "10" "2584" "0" "2584" "0" "c.*4A>G" "r.(=)" "p.(=)" "" "0000340494" "00024225" "10" "477" "0" "477" "0" "c.477A>G" "r.(?)" "p.(Ala159=)" "" "0000342156" "00024225" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0000344112" "00024225" "50" "1401" "0" "1401" "0" "c.1401C>A" "r.(?)" "p.(Asp467Glu)" "" "0000344606" "00024225" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000344957" "00024225" "50" "7224" "0" "7224" "0" "c.*4644C>T" "r.(=)" "p.(=)" "" "0000349317" "00024225" "50" "512" "0" "512" "0" "c.512C>G" "r.(?)" "p.(Thr171Ser)" "" "0000350775" "00024225" "90" "1485" "2" "1485" "2" "c.1485+2T>G" "r.spl?" "p.?" "" "0000358190" "00024225" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000358191" "00024225" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461*)" "13" "0000358192" "00024225" "90" "7084" "0" "7087" "0" "c.*4504_*4507del" "r.(?)" "p.?" "17" "0000487545" "00024225" "70" "963" "0" "963" "0" "c.963G>C" "r.(?)" "p.(Gln321His)" "10" "0000487546" "00024225" "90" "2041" "-2" "2041" "-2" "c.2041-2A>C" "r.spl?" "p.?" "16i" "0000541105" "00024225" "50" "140" "0" "140" "0" "c.140A>C" "r.(?)" "p.(Asp47Ala)" "" "0000541106" "00024225" "50" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Glu95Lys)" "" "0000541107" "00024225" "50" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Val122Met)" "" "0000541108" "00024225" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" "0000541109" "00024225" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(His186Tyr)" "" "0000541110" "00024225" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Ser187=)" "" "0000541111" "00024225" "10" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0000541112" "00024225" "50" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Ile)" "" "0000541113" "00024225" "50" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Ile)" "" "0000541116" "00024225" "30" "784" "-3" "784" "-3" "c.784-3G>A" "r.spl?" "p.?" "" "0000541117" "00024225" "30" "964" "-6" "964" "-6" "c.964-6T>A" "r.(=)" "p.(=)" "" "0000541118" "00024225" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Val344=)" "" "0000541119" "00024225" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Pro371Ser)" "" "0000541120" "00024225" "50" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378Gln)" "" "0000541121" "00024225" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Asp388Asn)" "" "0000541122" "00024225" "50" "1187" "0" "1187" "0" "c.1187A>G" "r.(?)" "p.(Asn396Ser)" "" "0000541123" "00024225" "50" "1205" "0" "1205" "0" "c.1205C>A" "r.(?)" "p.(Pro402His)" "" "0000541124" "00024225" "10" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Thr448=)" "" "0000541125" "00024225" "10" "1553" "6" "1553" "6" "c.1553+6T>C" "r.(=)" "p.(=)" "" "0000541126" "00024225" "50" "1553" "6" "1553" "6" "c.1553+6T>C" "r.(=)" "p.(=)" "" "0000541127" "00024225" "30" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Glu598Lys)" "" "0000541128" "00024225" "50" "2189" "0" "2189" "0" "c.2189C>T" "r.(?)" "p.(Ser730Phe)" "" "0000541129" "00024225" "50" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Gln824Ter)" "" "0000541130" "00024225" "30" "2552" "0" "2554" "0" "c.2552_2554del" "r.(?)" "p.(Lys851del)" "" "0000541131" "00024225" "10" "2595" "0" "2595" "0" "c.*15C>G" "r.(=)" "p.(=)" "" "0000541132" "00024225" "30" "7063" "0" "7063" "0" "c.*4483A>G" "r.(=)" "p.(=)" "" "0000541133" "00024225" "10" "7136" "0" "7136" "0" "c.*4556G>A" "r.(=)" "p.(=)" "" "0000612701" "00024225" "70" "348" "2" "348" "2" "c.348+2T>A" "r.spl?" "p.?" "" "0000612702" "00024225" "10" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Tyr256=)" "" "0000648011" "00024225" "50" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378Gln)" "" "0000648012" "00024225" "30" "2434" "0" "2434" "0" "c.2434C>T" "r.(?)" "p.(Pro812Ser)" "" "0000652974" "00024225" "50" "159" "0" "159" "0" "c.159C>A" "r.(?)" "p.(His53Gln)" "" "0000656576" "00024225" "50" "143" "0" "143" "0" "c.143C>A" "r.(?)" "p.(Thr48Asn)" "" "0000656577" "00024225" "30" "402" "0" "402" "0" "c.402G>T" "r.(?)" "p.(Arg134Ser)" "" "0000656578" "00024225" "30" "7202" "0" "7202" "0" "c.*4622T>C" "r.(=)" "p.(=)" "" "0000663590" "00024225" "50" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Asn623Ser)" "" "0000670141" "00024225" "50" "159" "0" "159" "0" "c.159C>A" "r.(?)" "p.(His53Gln)" "" "0000678931" "00024225" "50" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Gly37Arg)" "" "0000678932" "00024225" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461Ter)" "" "0000678933" "00024225" "50" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Arg726Cys)" "" "0000684385" "00024225" "70" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280*)" "9" "0000684429" "00024225" "70" "1863" "0" "1863" "0" "c.1863dup" "r.(?)" "p.(Ile622Hisfs*54)" "16" "0000685077" "00024225" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.0?" "" "0000685078" "00024225" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly276Asp)" "" "0000685079" "00024225" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Val458Asp)" "" "0000685080" "00024225" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gln461*)" "" "0000685081" "00024225" "90" "0" "0" "0" "0" "c.?" "r.spl" "p.?" "" "0000685082" "00024225" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Thr696Serfs*3)" "" "0000685849" "00024225" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461*)" "" "0000690803" "00024225" "30" "1431" "0" "1431" "0" "c.1431C>T" "r.(?)" "p.(Tyr477=)" "" "0000690804" "00024225" "50" "1823" "0" "1823" "0" "c.1823A>T" "r.(?)" "p.(Asp608Val)" "" "0000690805" "00024225" "30" "2367" "0" "2367" "0" "c.2367G>A" "r.(?)" "p.(Pro789=)" "" "0000690806" "00024225" "50" "7039" "0" "7039" "0" "c.*4459T>A" "r.(=)" "p.(=)" "" "0000710233" "00024225" "70" "963" "0" "963" "0" "c.963G>C" "r.(?)" "p.(Gln321His)" "" "0000710338" "00024225" "90" "2041" "-2" "2041" "-2" "c.2041-2A>C" "r.spl" "p.?" "" "0000713342" "00024225" "90" "2516" "0" "2522" "0" "c.2516_2522del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000713347" "00024225" "90" "2516" "0" "2522" "0" "c.2516_2522del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000713359" "00024225" "90" "1459" "0" "1459" "0" "c.1459del" "r.(?)" "p.(Gly488Alafs*20)" "" "0000713441" "00024225" "90" "2516" "0" "2522" "0" "c.2516_2522del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000713589" "00024225" "90" "1527" "0" "1527" "0" "c.1527T>G" "r.(?)" "p.(Tyr509*)" "" "0000713605" "00024225" "90" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Glu483Gly)" "" "0000713858" "00024225" "90" "2516" "0" "2522" "0" "c.2516_2522del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000722962" "00024225" "50" "41" "0" "41" "0" "c.41T>A" "r.(?)" "p.(Leu14Gln)" "" "0000722963" "00024225" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Ile136=)" "" "0000722964" "00024225" "50" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Val269=)" "" "0000722965" "00024225" "70" "1735" "0" "1736" "0" "c.1735_1736dup" "r.(?)" "p.(Ser579Argfs*10)" "" "0000722966" "00024225" "50" "9918" "0" "9918" "0" "c.*7338dup" "r.(?)" "p.(=)" "" "0000729766" "00024225" "70" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "" "0000730600" "00024225" "90" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "8" "0000730601" "00024225" "90" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "8" "0000730602" "00024225" "90" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "8" "0000730603" "00024225" "90" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "8" "0000730604" "00024225" "90" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "8" "0000730605" "00024225" "90" "1503" "0" "1507" "0" "c.1503_1507del" "r.(?)" "p.(Gly502Leufs*32)" "14" "0000730787" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000732460" "00024225" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Ala617Thr)" "" "0000732517" "00024225" "90" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "" "0000733046" "00024225" "70" "524" "0" "524" "0" "c.524dup" "r.(?)" "p.(Asn176Glufs*48)" "" "0000733128" "00024225" "70" "524" "0" "524" "0" "c.524dup" "r.(?)" "p.(Asn176Glufs*48)" "" "0000733129" "00024225" "70" "2094" "0" "2094" "0" "c.2094del" "r.(?)" "p.(Met699*)" "" "0000733156" "00024225" "70" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Phe353Ser)" "" "0000733579" "00024225" "70" "1321" "-1" "1321" "-1" "c.1321-1G>A" "r.spl" "p.?" "" "0000733598" "00024225" "70" "231" "0" "231" "0" "c.231dup" "Thr77ins1acT" "p.(Arg78*)" "" "0000735172" "00024225" "70" "1463" "0" "1463" "0" "c.1463delG" "r.(?)" "p.(Gly488Alafs*20)" "" "0000735842" "00024225" "70" "1554" "-2" "1554" "-2" "c.1554-2A>C" "r.1554_1782del" "p.?" "" "0000735862" "00024225" "70" "1868" "0" "1868" "0" "c.1868dup" "r.(?)" "p.(Asn623LysfsTer53)" "" "0000735877" "00024225" "90" "1868" "0" "1868" "0" "c.1868dup" "r.(?)" "p.(Asn623Lysfs*53)" "" "0000735878" "00024225" "90" "1485" "2" "1485" "2" "c.1485+2T>C" "r.1321_1485del" "p.?" "" "0000736084" "00024225" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Gln373*)" "" "0000736823" "00024225" "70" "690" "0" "692" "0" "c.690_692del" "r.(?)" "p.(Thr231del)" "" "0000759894" "00024225" "70" "398" "0" "398" "0" "c.398C>G" "r.(?)" "p.(Pro133Arg)" "" "0000759896" "00024225" "70" "439" "-17" "439" "-17" "c.439-17G>A" "r.spl" "p.?" "" "0000759899" "00024225" "90" "1384" "0" "1392" "0" "c.1384_1392delinsG" "r.(?)" "p.(Leu462Aspfs*3)" "" "0000759986" "00024225" "50" "416" "0" "416" "0" "c.416C>G" "r.(?)" "p.(Pro139Arg)" "" "0000760072" "00024225" "50" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000760084" "00024225" "50" "1367" "0" "1367" "0" "c.1367C>A" "r.(?)" "p.(Ala456Glu)" "" "0000760281" "00024225" "50" "270" "0" "270" "0" "c.270dup" "r.(?)" "p.(Thr91Hisfs*4)" "" "0000764031" "00024225" "70" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Asn129Ser)" "" "0000764109" "00024225" "90" "783" "0" "783" "0" "c.783G>A" "r.640_783del" "p.(Asp214_Pro261del)" "8" "0000764919" "00024225" "70" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Glu483Gly)" "" "0000764939" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841SerfsTer119)" "" "0000765742" "00024225" "70" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Ala159Glu)" "" "0000765747" "00024225" "70" "1536" "0" "1536" "0" "c.1536T>A" "r.(?)" "p.(Tyr512Ter)" "" "0000765778" "00024225" "70" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Glu237ArgfsTer30)" "" "0000766037" "00024225" "90" "2087" "0" "2090" "0" "c.2087_2090del" "r.(?)" "p.(Asp696Alafs*3)" "" "0000766071" "00024225" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000787685" "00024225" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Gln373Ter)" "" "0000788521" "00024225" "50" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Asn36Asp)" "2" "0000790485" "00024225" "50" "2473" "0" "2473" "0" "c.2473C>A" "r.(?)" "p.(Pro825Thr)" "" "0000790572" "00024225" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Gly404Asp)" "" "0000790597" "00024225" "50" "2552" "0" "2554" "0" "c.2552_2554del" "r.(?)" "p.(Lys851del)" "" "0000791906" "00024225" "90" "524" "0" "524" "0" "c.524dupA" "r.(?)" "p.(Asn176Glufs*48)" "6" "0000791907" "00024225" "90" "524" "0" "524" "0" "c.524dupA" "r.(?)" "p.(Asn176Glufs*48)" "6" "0000791908" "00024225" "90" "524" "0" "524" "0" "c.524dupA" "r.(?)" "p.(Asn176Glufs*48)" "6" "0000791909" "00024225" "90" "524" "0" "524" "0" "c.524dupA" "r.(?)" "p.(Asn176Glufs*48)" "6" "0000791910" "00024225" "90" "524" "0" "524" "0" "c.524dupA" "r.(?)" "p.(Asn176Glufs*48)" "6" "0000791911" "00024225" "90" "524" "0" "524" "0" "c.524dupA" "r.(?)" "p.(Asn176Glufs*48)" "6" "0000794294" "00024225" "90" "1041" "0" "1041" "0" "c.1041del" "r.(?)" "p.(Asn347Lysfs*21)" "11" "0000794295" "00024225" "90" "1485" "1" "1485" "1" "c.1485+1G>A" "r.spl" "p.?" "13i" "0000794729" "00024225" "90" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Gly113Alafs*2)" "" "0000795662" "00024225" "70" "420" "0" "420" "0" "c.420T>A" "r.(?)" "p.(Tyr140*)" "" "0000796794" "00024225" "90" "1202" "0" "1202" "0" "c.1202G>C" "r.(?)" "p.(Gly401Ala)" "12" "0000796795" "00024225" "70" "1202" "0" "1202" "0" "c.1202G>C" "r.(?)" "p.(Gly401Ala)" "12" "0000796862" "00024225" "70" "720" "0" "720" "0" "c.720G>C" "r.(?)" "p.(Gln240His)" "8" "0000796923" "00024225" "90" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "16" "0000797088" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17A" "0000797193" "00024225" "50" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000797212" "00024225" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Trp)" "" "0000797559" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000797966" "00024225" "90" "524" "0" "524" "0" "c.524dup" "r.(?)" "p.(Asn176Glufs*48)" "" "0000797967" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261Pro)" "" "0000804586" "00024225" "30" "72" "0" "72" "0" "c.72C>A" "r.(?)" "p.(Ala24=)" "" "0000804588" "00024225" "50" "1589" "0" "1589" "0" "c.1589C>G" "r.(?)" "p.(Thr530Ser)" "" "0000811863" "00024225" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000812135" "00024225" "70" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Ala159Glu)" "6" "0000812136" "00024225" "70" "1485" "2" "1485" "2" "c.1485+2T>C" "r.(?)" "p.(?)" "13i" "0000813638" "00024225" "90" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280*)" "" "0000815317" "00024225" "90" "1485" "2" "1485" "2" "c.1485+2T>C" "r.(?)" "p.(?)" "" "0000815340" "00024225" "90" "1485" "2" "1485" "2" "c.1485+2T>C" "r.spl" "p.(?)" "" "0000815362" "00024225" "90" "1485" "2" "1485" "2" "c.1485+2T>C" "r.spl" "p.(?)" "" "0000815363" "00024225" "90" "1485" "2" "1485" "2" "c.1485+2T>C" "r.spl" "p.(?)" "" "0000815364" "00024225" "90" "1485" "2" "1485" "2" "c.1485+2T>C" "r.spl" "p.(?)" "" "0000815421" "00024225" "50" "2431" "0" "2431" "0" "c.2431G>C" "r.(?)" "p.(Val811Leu)" "" "0000815456" "00024225" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(His186Tyr)" "" "0000815607" "00024225" "50" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Phe353Ser)" "" "0000815963" "00024225" "90" "295" "0" "295" "0" "c.295del" "r.(?)" "p.(Glu99Argfs*16)" "" "0000816075" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000816254" "00024225" "50" "958" "0" "963" "2" "c.958_963+2dup" "r.spl" "p.(?)" "" "0000816314" "00024225" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000816406" "00024225" "90" "524" "0" "524" "0" "c.524dup" "r.(?)" "p.(Asn176Glufs*48)" "" "0000816748" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000817632" "00024225" "70" "1298" "0" "1298" "0" "c.1298del" "r.(?)" "p.(Lys433SerfsTer5)" "" "0000817633" "00024225" "70" "2108" "0" "2108" "0" "c.2108del" "r.(?)" "p.(Gly703ValfsTer138)" "" "0000819389" "00024225" "70" "56" "-1" "56" "-1" "c.56-1G>A" "r.spl" "p.(?)" "" "0000819483" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000819947" "00024225" "70" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Glu99Gly)" "" "0000820041" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000820093" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000820099" "00024225" "70" "1700" "0" "1700" "0" "c.1700T>C" "r.(?)" "p.(Leu567Pro)" "" "0000820180" "00024225" "70" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Gln310*)" "" "0000820225" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000820344" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000820493" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000820499" "00024225" "70" "639" "1" "639" "1" "c.639+1del" "r.spl" "p.(?)" "" "0000820835" "00024225" "70" "2040" "5" "2040" "5" "c.2040+5G>T" "r.spl?" "p.(?)" "" "0000820872" "00024225" "70" "1311" "0" "1316" "0" "c.1311_1316del" "r.(?)" "p.(Leu437_Thr438del)" "" "0000820943" "00024225" "70" "2108" "0" "2108" "0" "c.2108G>A" "r.(?)" "p.(Gly703Asp)" "" "0000821190" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000821191" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000821192" "00024225" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Gly488Alafs*20)" "" "0000821193" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000821194" "00024225" "70" "1527" "0" "1527" "0" "c.1527T>G" "r.(?)" "p.(Tyr509*)" "" "0000821195" "00024225" "70" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Glu483Gly)" "" "0000821531" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000822065" "00024225" "70" "863" "-2" "863" "-1" "c.863-2_863-1del" "r.spl" "p.(?)" "" "0000822149" "00024225" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000822150" "00024225" "70" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000822151" "00024225" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000822152" "00024225" "70" "1485" "2" "1485" "2" "c.1485+2T>G" "r.spl?" "p.?" "13i" "0000822153" "00024225" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000822154" "00024225" "70" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000822155" "00024225" "70" "1720" "0" "1720" "0" "c.1720C>G" "r.(?)" "p.(Pro574Ala)" "15" "0000822156" "00024225" "70" "1485" "2" "1485" "2" "c.1485+2T>G" "r.spl?" "p.?" "13i" "0000822157" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000822159" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000822161" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000822163" "00024225" "70" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000822164" "00024225" "70" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000822165" "00024225" "70" "1527" "0" "1527" "0" "c.1527T>G" "r.(?)" "p.(Tyr509*)" "14" "0000822166" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000822342" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(=)" "p.(=)" "8" "0000822343" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(=)" "p.(=)" "8" "0000822470" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.(=)" "p.(=)" "8" "0000822471" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000822678" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000822679" "00024225" "70" "1503" "0" "1507" "0" "c.1503_1507del" "r.(?)" "p.(Gly502Leufs*32)" "14" "0000822680" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000822681" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000822682" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000822745" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000822945" "00024225" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" "" "0000824656" "00024225" "50" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Asn129Ser)" "" "0000824684" "00024225" "70" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "" "0000824726" "00024225" "50" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "" "0000824739" "00024225" "30" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0000824803" "00024225" "50" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "" "0000825740" "00024225" "70" "1041" "0" "1041" "0" "c.1041del" "r.(?)" "p.(Asn347Lysfs*21)" "11" "0000825741" "00024225" "70" "1485" "1" "1485" "1" "c.1485+1G>A" "r.spl?" "p.?" "13i" "0000827193" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "17" "0000828560" "00024225" "70" "2522" "0" "2528" "0" "c.2522_2528delTCTCTGA" "r.(?)" "p.(Ile841Serfs119*)" "17" "0000828857" "00024225" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "" "0000828922" "00024225" "50" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "" "0000852601" "00024225" "30" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Glu598Lys)" "" "0000862009" "00024225" "50" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000862010" "00024225" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000862011" "00024225" "30" "1783" "-6" "1783" "-6" "c.1783-6G>A" "r.(=)" "p.(=)" "" "0000871952" "00024225" "50" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000871953" "00024225" "50" "1594" "0" "1594" "0" "c.1594C>G" "r.(?)" "p.(Pro532Ala)" "" "0000871954" "00024225" "70" "337" "0" "337" "0" "c.337delG" "r.(?)" "p.(Gly113Alafs*2)" "" "0000871955" "00024225" "70" "337" "0" "337" "0" "c.337delG" "r.(?)" "p.(Gly113Alafs*2)" "" "0000871956" "00024225" "70" "337" "0" "337" "0" "c.337delG" "r.(?)" "p.(Gly113Alafs*2)" "" "0000871957" "00024225" "70" "337" "0" "337" "0" "c.337delG" "r.(?)" "p.(Gly113Alafs*2)" "" "0000871958" "00024225" "70" "1459" "0" "1459" "0" "c.1459delG" "r.(?)" "p.(Gly488Alafs*20)" "" "0000871960" "00024225" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461*)" "13" "0000871961" "00024225" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461*)" "13" "0000871962" "00024225" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461*)" "13" "0000871963" "00024225" "70" "1485" "2" "1485" "2" "c.1485+2T>G" "r.(?)" "p.?" "13i" "0000871964" "00024225" "70" "1485" "2" "1485" "2" "c.1485+2T>G" "r.(?)" "p.?" "13i" "0000871965" "00024225" "70" "1463" "0" "1463" "0" "c.1463delG" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000871966" "00024225" "70" "1463" "0" "1463" "0" "c.1463delG" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000871967" "00024225" "70" "1463" "0" "1463" "0" "c.1463delG" "r.(?)" "p.(Gly488Alafs*20)" "13" "0000871970" "00024225" "70" "1720" "0" "1720" "0" "c.1720C>G" "r.(?)" "p.(Pro574Ala)" "15" "0000871971" "00024225" "70" "1720" "0" "1720" "0" "c.1720C>G" "r.(?)" "p.(Pro574Ala)" "15" "0000871972" "00024225" "70" "1485" "2" "1485" "2" "c.1485+2T>C" "r.(?)" "p.?" "13i" "0000871973" "00024225" "70" "1485" "2" "1485" "2" "c.1485+2T>C" "r.(?)" "p.?" "13i" "0000871974" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000871975" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000871976" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000871977" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000871978" "00024225" "70" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Glu483Gly)" "" "0000871979" "00024225" "70" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Glu483Gly)" "" "0000871980" "00024225" "90" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Gln310*)" "" "0000871981" "00024225" "50" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Glu99Gly)" "" "0000871982" "00024225" "50" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000871983" "00024225" "90" "56" "-1" "56" "-1" "c.56-1G>A" "r.spl" "p.?" "" "0000871984" "00024225" "90" "639" "1" "639" "1" "c.639+1delG" "r.spl" "p.?" "" "0000871985" "00024225" "50" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000871986" "00024225" "50" "1700" "0" "1700" "0" "c.1700T>C" "r.(?)" "p.(Leu567Pro)" "" "0000871987" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000871988" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841Serfs*119)" "" "0000871989" "00024225" "70" "2040" "5" "2040" "5" "c.2040+5G>T" "r.spl" "p.?" "" "0000871990" "00024225" "50" "2108" "0" "2108" "0" "c.2108G>A" "r.(?)" "p.(Gly703Asp)" "" "0000871991" "00024225" "70" "1311" "0" "1316" "0" "c.1311_1316del" "r.(?)" "p.(Leu437_Thr438del)" "" "0000871992" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000871993" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000871994" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000871995" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000871996" "00024225" "70" "152" "-2" "152" "-2" "c.152-2A>G" "r.spl" "p.?" "2i" "0000871997" "00024225" "70" "152" "-2" "152" "-2" "c.152-2A>G" "r.spl" "p.?" "2i" "0000871999" "00024225" "70" "1641" "0" "1641" "0" "c.1641T>A" "r.(?)" "p.(Tyr547*)" "15" "0000872000" "00024225" "70" "1106" "0" "1106" "0" "c.1106dup" "r.(?)" "p.(His370Alafs*17)" "" "0000872001" "00024225" "70" "1106" "0" "1106" "0" "c.1106dup" "r.(?)" "p.(His370Alafs*17)" "" "0000872002" "00024225" "70" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "" "0000872003" "00024225" "70" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "" "0000872004" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000872005" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000872006" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000872007" "00024225" "70" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Trp6*)" "" "0000872008" "00024225" "70" "1570" "0" "1592" "0" "c.1570_1592del" "r.(?)" "p.(Ser524Alafs*4)" "" "0000872009" "00024225" "70" "438" "1" "438" "1" "c.438+1G>A" "r.spl" "p.?" "" "0000872139" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000872140" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000872141" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "8" "0000872142" "00024225" "70" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Trp6*)" "" "0000872143" "00024225" "70" "1570" "0" "1592" "0" "c.1570_1592del" "r.(?)" "p.(Ser524Alafs*4)" "" "0000872144" "00024225" "70" "438" "1" "438" "1" "c.438+1G>A" "r.spl" "p.?" "" "0000881417" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "" "0000881418" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "" "0000889269" "00024225" "50" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Glu99Gly)" "" "0000889270" "00024225" "10" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0000889271" "00024225" "50" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "" "0000896674" "00024225" "50" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Ile676Asn)" "" "0000896691" "00024225" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "" "0000897826" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000897827" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000897828" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000897829" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000897830" "00024225" "70" "297" "1" "297" "1" "c.297+1G>T" "r.spl" "p.?" "" "0000897831" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000897832" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Pro261=)" "" "0000897833" "00024225" "70" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" "" "0000897834" "00024225" "70" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" "" "0000897835" "00024225" "70" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" "" "0000897836" "00024225" "70" "2203" "0" "2203" "0" "c.2203C>A" "r.(?)" "p.(Pro735Thr)" "" "0000897837" "00024225" "70" "1" "0" "1" "0" "c.1A>G" "r.spl" "p.(Met1?)" "" "0000897838" "00024225" "70" "1373" "0" "1373" "0" "c.1373T>A" "r.(?)" "p.(Val458Asp)" "" "0000897839" "00024225" "70" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Gln411*)" "" "0000897840" "00024225" "70" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Gln411*)" "" "0000897841" "00024225" "70" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Gln411*)" "" "0000925202" "00024225" "50" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000925203" "00024225" "70" "1321" "-2" "1321" "-2" "c.1321-2A>G" "r.spl?" "p.?" "" "0000944531" "00024225" "90" "0" "0" "0" "0" "c.784-344_*4075{0}ins862+223_*4075inv" "r.?" "p.?" "8i_17_" "0000958075" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841SerfsTer119)" "" "0000958227" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000958237" "00024225" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461Ter)" "" "0000958240" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000958244" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000958333" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841SerfsTer119)" "" "0000958575" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000958903" "00024225" "50" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Glu99Gly)" "" "0000959006" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000959007" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000959029" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000959053" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" "p.(Ile841SerfsTer119)" "" "0000959054" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000959350" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000959365" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000959409" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.[(Asp214_Pro261del,Pro261=)]" "" "0000965882" "00024225" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0000965883" "00024225" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(=)" "" "0000965884" "00024225" "50" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Ile)" "" "0000965885" "00024225" "50" "1354" "0" "1354" "0" "c.1354T>G" "r.(?)" "p.(Phe452Val)" "" "0000979187" "00024225" "30" "2109" "0" "2109" "0" "c.2109T>A" "r.(?)" "p.(=)" "" "0000986315" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986316" "00024225" "70" "" "0" "" "0" "c.-126_(55+1_56-1){0}" "r.0?" "p.0?" "1" "0000986317" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986318" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986319" "00024225" "50" "143" "0" "143" "0" "c.143C>A" "r.(?)" "p.(Thr48Asn)" "2" "0000986320" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986321" "00024225" "50" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Glu99Gly)" "3" "0000986322" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986323" "00024225" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "7" "0000986324" "00024225" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" "7" "0000986325" "00024225" "90" "768" "0" "768" "0" "c.768C>G" "r.(?)" "p.(Tyr256Ter)" "8" "0000986326" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986327" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986328" "00024225" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "7" "0000986329" "00024225" "50" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Pro616Leu)" "16" "0000986330" "00024225" "70" "783" "0" "783" "0" "c.783G>A" "r.spl" "p.(Asp214_Pro261del)" "8" "0000986331" "00024225" "90" "2522" "0" "2528" "0" "c.2522_2528del" "r.(?)" 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