### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOX10) # 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}}" "SOX10" "SRY (sex determining region Y)-box 10" "22" "q13.1" "unknown" "LRG_271" "UD_132085295001" "" "https://www.LOVD.nl/SOX10" "" "1" "11190" "6663" "602229" "1" "1" "1" "1" "Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/SOX10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-10-05 00:00:00" "00006" "2020-10-29 09:09:26" "00000" "2026-03-09 10:54:09" ## 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}}" "00020045" "SOX10" "SRY (sex determining region Y)-box 10" "001" "NM_006941.3" "" "NP_008872.1" "" "" "" "-278" "2584" "1401" "38380539" "38368319" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01049" "WS4C" "Waardenburg syndrome, type 4C (WS4C)" "AD" "613266" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01050" "WS2E" "Waardenburg syndrome, type 2E, with/without neurologic involvement (WS2E)" "AD" "611584" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01051" "PCWH" "PCWH syndrome (PCWH)" "AD" "609136" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01605" "WS2A" "Waardenburg syndrome, type 2A (WS2A)" "AD" "193510" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02799" "WS2D" "Waardenburg syndrome, type 2D (WS2D)" "AR" "608890" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05198" "KAL" "Kallmann syndrome (KAL)" "" "" "" "" "" "00006" "2016-10-21 14:34:27" "" "" "05420" "KS" "Kallmann syndrome" "" "" "" "" "" "01796" "2018-04-12 03:54:33" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05667" "WS" "Waardenburg syndrome (WS)" "" "" "" "" "" "00008" "2019-10-30 16:28:42" "00006" "2021-12-10 21:51:32" "05863" "HSCR" "Hirschsprung disease (HSCR)" "" "" "" "" "" "00006" "2020-10-26 17:45:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "SOX10" "00139" "SOX10" "01049" "SOX10" "01050" "SOX10" "01051" "SOX10" "05667" ## Individuals ## Do not remove or alter this header ## ## Count = 143 "{{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}}" "00080009" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080058" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00285517" "" "" "" "1" "" "00004" "{PMID:Inoue 1999:10482261}, {PMID:Inoue 2007:17855451}" "" "" "" "" "" "0" "" "" "" "" "00285523" "" "" "" "1" "" "00004" "{PMID:Tang 2015:25991456}" "" "" "" "" "" "0" "" "" "" "" "00285529" "" "" "" "1" "" "00004" "{PMID:Wang 2014:24440785}" "" "" "" "" "" "0" "" "" "" "" "00285530" "" "" "" "1" "" "00004" "{PMID:Pingault 2010:20127975}, {PMID:Elmaleh-Bergès 2013:23237859}" "" "" "" "" "" "0" "" "" "" "" "00285535" "" "" "" "1" "" "00004" "{PMID:Inoue 2004:15004559}, {PMID:Touraine 2000:10762540}, {PMID:Jacobs 1992:1636383}" "" "" "" "" "" "0" "" "" "" "" "00285539" "" "" "" "1" "" "00004" "{PMID:Viñuela 2009:19764030}, {PMID:Inoue 2004:15004559}" "" "" "" "" "" "0" "" "" "" "" "00285544" "" "" "" "1" "" "00004" "{PMID:Touraine 2000:10762540}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285545" "" "" "" "1" "" "00004" "{PMID:Inoue 2002:12447940}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285547" "" "" "" "1" "" "00004" "{PMID:Pingault 2002:12189494}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285549" "" "" "" "1" "" "00004" "{PMID:Sznajer 2008:18348267}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285550" "" "" "" "1" "" "00004" "{PMID:Jiang 2011:21531202}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285553" "" "" "" "1" "" "00004" "{PMID:Southard-Smith 1999:10077527}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285554" "" "" "" "1" "" "00004" "{PMID:Chen 2015:25817900}" "" "" "" "" "" "0" "" "" "" "" "00285555" "" "" "" "1" "" "00004" "{PMID:Pingault 1998:9462749}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285559" "" "" "" "1" "" "00004" "{PMID:Barnett 2009:19208381}, {PMID:Chaoui 2011:21898658}" "" "" "" "" "" "0" "" "" "" "" "00285560" "" "" "" "1" "" "00004" "{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285562" "" "" "" "1" "" "00004" "{PMID:Pingault 1998:9462749}" "" "" "" "" "" "0" "" "" "" "" "00285564" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00285570" "" "" "" "1" "" "00004" "{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285572" "" "" "" "1" "" "00004" "{PMID:Bondurand 1999:10441344}, {PMID:Hennekam 1996:8911608}" "" "" "" "" "" "0" "" "" "" "" "00285573" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00285582" "" "" "" "1" "" "00004" "{PMID:Tang 2015:25991456}" "" "" "" "" "" "0" "" "" "" "" "00285583" "" "" "" "1" "" "00004" "{PMID:Chen 2014:24735604}" "" "" "" "" "" "0" "" "" "" "" "00285584" "" "" "" "1" "" "00004" "{PMID:Jiang 2011:21531202}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285585" "" "" "" "1" "" "00004" "{PMID:Pingault 1998:9462749}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285586" "" "" "" "1" "" "00004" "{PMID:Pingault 1998:9462749}" "" "" "" "" "" "0" "" "" "" "" "00285587" "" "" "" "1" "" "00004" "{PMID:Vaaralahti 2014:24769923}" "" "" "" "" "" "0" "" "" "" "" "00285589" "" "" "" "1" "" "00004" "{PMID:Inoue 2002:12447940}" "" "" "" "" "" "0" "" "" "" "" "00285594" "" "" "" "1" "" "00004" "{PMID:Arimoto 2014:24582978}" "" "" "" "" "" "0" "" "" "" "" "00285595" "" "" "" "1" "" "00004" "{PMID:Chen 2010:20478267}, {PMID:Zhang 2012:21965087}" "" "" "" "" "" "0" "" "" "" "" "00295915" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295955" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "12y" "0" "" "" "Asian" "SH289-664" "00309873" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL027" "00315771" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "M" "" "" "" "0" "" "" "" "" "00315772" "" "" "" "1" "" "03808" "{PMID:Pingault 2002:12189494}" "" "M" "" "" "" "0" "" "" "" "" "00315773" "" "" "" "1" "" "03808" "{PMID:Sham 2001:11546831}" "" "F" "" "China" "" "0" "" "" "" "" "00315774" "" "" "" "1" "" "03808" "{PMID:Pingault 1998:9462749}" "" "M" "" "" "" "0" "" "" "" "" "00315775" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315776" "" "" "" "1" "" "03808" "{PMID:Pingault 2002:12189494}" "" "M" "" "" "" "0" "" "" "" "" "00315777" "" "" "" "1" "" "03808" "{PMID:Hennekam 1996:8911608}, {PMID:Bondurand 1999:10441344}" "" "F" "" "" "" "0" "" "" "" "" "00315778" "" "" "" "1" "" "03808" "Touraine 1998 Am J Hum Genet 63:A174" "" "" "" "" "" "0" "" "" "" "" "00315779" "" "" "" "1" "" "03808" "{PMID:Morin 2008:18348274}" "" "M" "" "" "" "0" "" "" "" "" "00315780" "" "" "" "1" "" "03808" "{PMID:Pingault 1998:9462749}" "" "F" "" "" "" "0" "" "" "" "" "00315781" "" "" "" "1" "" "03808" "{PMID:Iso 2008:18627047}" "" "F" "" "Japan" "" "0" "" "" "" "" "00315782" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}, {PMID:Pingault 2010:20127975}" "" "M" "" "Belgium" "" "0" "" "" "" "" "00315783" "" "" "" "1" "" "03808" "{PMID:Barnett 2009:19208381}" "" "M" "" "" "" "0" "" "" "" "" "00315784" "" "" "" "1" "" "03808" "{PMID:Pingault 1998:9462749}" "" "M" "" "" "" "0" "" "" "" "" "00315785" "" "" "" "1" "" "03808" "{PMID:Southard-Smith 1999:10077527}" "" "M" "" "" "" "0" "" "" "" "" "00315786" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}, {PMID:Pingault 2010:20127975}" "" "M" "" "France" "" "0" "" "" "" "" "00315787" "" "" "" "1" "" "03808" "{PMID:Sznajer 2008:18348267}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00315788" "" "" "" "1" "" "03808" "{PMID:Pingault 2002:12189494}" "" "M" "" "Algeria" "" "0" "" "" "" "" "00315789" "" "" "" "1" "" "03808" "{PMID:Inoue 2002:12447940}" "" "M" "" "" "" "0" "" "" "" "" "00315790" "" "" "" "1" "" "03808" "{PMID:Touraine 2000:10762540}" "" "M" "" "France" "" "0" "" "" "" "" "00315791" "" "" "" "1" "" "03808" "{PMID:Pingault 2002:12189494}" "" "M" "" "Japan" "" "0" "" "" "" "" "00315792" "" "" "" "1" "" "03808" "{PMID:Pingault 2000:11026454}" "" "F" "" "" "" "0" "" "" "" "" "00315793" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}, {PMID:Pingault 2010:20127975}" "" "M" "" "France" "" "0" "" "" "" "" "00315794" "" "" "" "1" "" "03808" "{PMID:Inoue 2004:15004559}" "" "M" "" "" "" "0" "" "" "" "" "00315795" "" "" "" "1" "" "03808" "{PMID:Vinuela 2009:19764030}" "" "M" "" "" "" "0" "" "" "" "" "00315796" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "F" "" "Australia" "" "0" "" "" "" "" "00315797" "" "" "" "1" "" "03808" "{PMID:Inoue 2004:15004559}" "" "M" "" "" "" "0" "" "" "" "" "00315798" "" "" "" "2" "" "03808" "{PMID:Touraine 2000:10762540};{PMID:Korsch 2001:11195028}" "" "M" "" "Germany" "" "0" "" "" "" "" "00315799" "" "" "" "1" "" "03808" "{PMID:Touraine 2000:10762540}" "" "M" "" "France" "" "0" "" "" "" "" "00315800" "" "" "" "1" "" "03808" "{PMID:Inoue 2004:15004559}" "" "M" "" "Japan" "" "0" "" "" "" "" "00315801" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "M" "" "" "" "0" "" "" "" "" "00315802" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}" "" "" "" "France" "" "0" "" "" "" "" "00315803" "" "" "" "1" "" "03808" "{PMID:Pingault 1998:9462749}" "" "" "" "" "" "0" "" "" "" "" "00315804" "" "" "" "1" "" "03808" "{PMID:Inoue 2004:15004559}" "" "F" "" "" "" "0" "" "" "" "" "00315805" "" "" "" "1" "" "03808" "{PMID:Pingault 2002:12189494}" "" "M" "" "" "" "0" "" "" "" "" "00315806" "" "" "" "1" "" "03808" "{PMID:Toki 2003:14691634}" "" "M" "" "" "" "0" "" "" "" "" "00315807" "" "" "" "1" "" "03808" "{PMID:Southard-Smith 1999:10077527}" "" "" "" "" "" "0" "" "" "" "" "00315808" "" "" "" "1" "" "03808" "{PMID:Verheij 2006:16504559}" "" "F" "" "" "" "0" "" "" "" "" "00315809" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}, {PMID:Pingault 2010:20127975}" "" "M" "" "France" "" "0" "" "" "" "" "00315810" "" "" "" "1" "" "03808" "{PMID:Sham 2001:11546831}" "" "M" "" "China" "" "0" "" "" "" "" "00315811" "" "" "" "1" "" "03808" "{PMID:Inoue 1999:10482261}" "" "F" "" "Japan" "" "0" "" "" "" "" "00315812" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}, {PMID:Pingault 2010:20127975}" "" "F" "" "France;Nigeria" "" "0" "" "" "" "" "00315813" "" "" "" "1" "" "03808" "{PMID:Sanchez-Meijas 2010:20130826}" "" "F" "" "" "" "0" "" "" "" "" "00315814" "" "" "" "1" "" "03808" "{PMID:Sanchez-Meijas 2010:20130826}" "" "M" "" "" "" "0" "" "" "" "" "00315815" "" "" "" "1" "" "03808" "{PMID:Chen 2010:20478267}" "" "" "" "China" "" "0" "" "" "" "" "00315816" "" "" "" "1" "" "03808" "{PMID:Chen 2010:20478267}" "" "" "" "China" "" "0" "" "" "" "" "00315817" "" "" "" "1" "" "03808" "{PMID:Chen 2010:20478267}" "" "" "" "China" "" "0" "" "" "" "" "00315818" "" "" "" "1" "" "03808" "{PMID:Jiang 2011:21531202}" "a sister has WS2" "" "" "China" "" "0" "" "" "" "" "00315819" "" "" "" "1" "" "03808" "{PMID:Jiang 2011:21531202}" "" "F" "" "China" "" "0" "" "" "" "" "00315820" "" "" "" "1" "" "03808" "{PMID:Unzicker 2011:21822601}" "" "M" "" "" "" "0" "" "" "" "" "00315821" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "F" "" "" "" "0" "" "" "" "" "00315822" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "M" "" "" "" "0" "" "" "" "" "00315823" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "M" "" "" "" "0" "" "" "" "" "00315824" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "F" "" "" "" "0" "" "" "" "" "00315825" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}, {PMID:Chaoui 2011:21898658}" "" "M" "" "Algeria" "" "0" "" "" "" "" "00315826" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "M" "" "" "" "0" "" "" "" "" "00315827" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "M" "" "" "" "0" "" "" "" "" "00315828" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "M" "" "" "" "0" "" "" "" "" "00315829" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "F" "" "" "" "0" "" "" "" "" "00315830" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "M" "" "" "" "0" "" "" "" "" "00315831" "" "" "" "1" "" "03808" "{PMID:Chaoui 2011:21898658}" "" "" "" "" "" "0" "" "" "" "" "00315832" "" "" "" "1" "" "03808" "{PMID:Zhang 2012:21965087}" "" "" "" "" "" "0" "" "" "" "" "00315833" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315834" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315835" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315836" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315837" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315838" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315839" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "M" "" "" "" "0" "" "" "" "" "00315840" "" "" "" "1" "" "03808" "{PMID:Bondurand 2007:17999358}" "" "F" "" "" "" "0" "" "" "" "" "00315841" "" "" "" "1" "" "03808" "{PMID:Parthev 2012:22246888}" "" "M" "" "" "" "0" "" "" "" "" "00315842" "" "" "" "1" "" "03808" "{PMID:Bondurand 2012:22378281}" "" "M" "" "Congo" "" "0" "" "" "" "" "00315843" "" "" "" "1" "" "03808" "{PMID:Siomou 2012:22842075}" "" "M" "" "" "" "0" "" "" "" "" "00315844" "" "" "" "1" "" "03808" "{PMID:Oshimo 2012:22963253}" "" "M" "" "Japan" "" "0" "" "" "" "" "00315845" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}" "" "M" "" "France;Portugal" "" "0" "" "" "" "" "00315846" "" "" "" "1" "" "03808" "{PMID:Elmaleh-Berges 2013:23237859}" "" "F" "" "Reunion" "" "0" "" "" "" "" "00315847" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "M" "" "" "" "0" "" "" "" "" "00315848" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "F" "" "" "" "0" "" "" "" "" "00315849" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "F" "" "" "" "0" "" "" "" "" "00315850" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "F" "" "" "" "0" "" "" "" "" "00315851" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "M" "" "" "" "0" "" "" "" "" "00315852" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "M" "" "" "" "0" "" "" "" "" "00315853" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "M" "" "" "" "0" "" "" "" "" "00315854" "" "" "" "1" "" "03808" "{PMID:Pingault 2013:23643381}" "" "F" "" "" "" "0" "" "" "" "" "00315855" "" "" "" "1" "" "03808" "{PMID:Jung 2013:23680208}" "" "M" "" "" "" "0" "" "" "" "" "00315856" "" "" "" "1" "" "03808" "{PMID:Fernandez 2014:24311220}" "" "M" "" "Spain" "" "0" "" "" "" "" "00315857" "" "" "" "1" "" "03808" "{PMID:Fernandez 2014:24311220}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00374723" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5230" "00377111" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00379745" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "IR_GH_0087" "00380716" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "W7" "00381527" "" "" "" "2" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "" "00381528" "" "" "00381527" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "" "00381529" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "" "00402879" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam1PatIV4" "00408235" "" "" "" "2" "" "04294" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "F-1" "00415812" "" "" "" "1" "" "04294" "" "" "M" "?" "China" "" "" "" "" "Chinese" "S-5" "00415815" "" "" "" "1" "" "04294" "" "" "F" "no" "China" "" "" "" "" "Chinese" "S-6" "00415816" "" "" "" "1" "" "04294" "" "" "F" "no" "China" "" "" "" "" "Chinese" "S-8" "00416319" "" "" "" "1" "" "03132" "" "" "M" "no" "China" "" "" "" "" "" "" "00430227" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04451" "" "" "M" "no" "China" "" "" "" "" "East Asia" "20D2602998" "00448201" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat57" "00458112" "" "" "" "2" "" "04663" "{PMID:Graziani 2024:39119450}" "4-generation family, affected mother/daughter" "F" "no" "Italy;(Italy)" "" "0" "" "" "" "FamPatIII2" "00458138" "" "" "" "2" "" "00006" "{PMID:Pingault 2014:25256313}" "2-generation family, index and affected father" "M" "" "France" "" "0" "" "" "" "Pat9" "00458139" "" "" "" "1" "" "00006" "{PMID:Pingault 2014:25256313}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "France" "" "0" "" "" "" "Pat7" "00458140" "" "" "" "1" "" "00006" "{PMID:Pingault 2014:25256313}" "" "" "" "France" "" "0" "" "" "China" "Pat12" "00465487" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00469410" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 144 "{{individualid}}" "{{diseaseid}}" "00080009" "05103" "00080058" "05103" "00285517" "00198" "00285523" "00198" "00285529" "05667" "00285530" "00198" "00285535" "00198" "00285539" "00198" "00285544" "00198" "00285545" "00198" "00285547" "00198" "00285549" "00198" "00285550" "05667" "00285553" "00198" "00285554" "05667" "00285555" "00198" "00285559" "00198" "00285560" "00198" "00285562" "05667" "00285564" "05420" "00285570" "00198" "00285572" "00198" "00285573" "05420" "00285582" "05667" "00285583" "05667" "00285584" "05667" "00285585" "00198" "00285586" "05667" "00285587" "05420" "00285589" "00198" "00285594" "05667" "00285595" "05667" "00295915" "00198" "00295955" "05103" "00309873" "05086" "00315771" "05667" "00315772" "05667" "00315773" "05667" "00315774" "05667" "00315775" "05667" "00315776" "05667" "00315777" "00198" "00315778" "05667" "00315779" "05667" "00315780" "05667" "00315781" "05667" "00315782" "05667" "00315783" "00198" "00315784" "05667" "00315785" "05667" "00315786" "05667" "00315787" "00198" "00315788" "00198" "00315789" "00198" "00315790" "00198" "00315791" "05667" "00315792" "00198" "00315793" "05667" "00315794" "00198" "00315795" "00198" "00315796" "00198" "00315797" "00198" "00315798" "00198" "00315799" "00198" "00315800" "00198" "00315801" "05667" "00315802" "05667" "00315803" "05667" "00315804" "00198" "00315805" "00198" "00315806" "05667" "00315807" "00198" "00315808" "00198" "00315809" "05667" "00315810" "00198" "00315811" "00198" "00315812" "00198" "00315813" "05667" "00315814" "05863" "00315815" "05667" "00315816" "05667" "00315817" "05667" "00315818" "05667" "00315819" "05667" "00315820" "00198" "00315821" "05667" "00315822" "00198" "00315823" "00198" "00315824" "05667" "00315825" "00198" "00315826" "05667" "00315827" "00198" "00315828" "05667" "00315829" "00198" "00315830" "00198" "00315831" "00198" "00315832" "05667" "00315833" "05667" "00315834" "00198" "00315835" "00198" "00315836" "05667" "00315837" "05667" "00315838" "05667" "00315839" "00198" "00315840" "00198" "00315841" "00198" "00315842" "05667" "00315843" "00198" "00315844" "00198" "00315845" "05667" "00315846" "05667" "00315847" "00198" "00315848" "00198" "00315849" "00198" "00315850" "00198" "00315851" "00198" "00315852" "00198" "00315853" "00198" "00315854" "00198" "00315855" "05667" "00315856" "00198" "00315857" "05667" "00374723" "00198" "00377111" "00198" "00379745" "04214" "00380716" "01049" "00381527" "01050" "00381528" "01050" "00381529" "01049" "00402879" "05611" "00408235" "01605" "00415812" "02799" "00415815" "02799" "00415816" "02799" "00416319" "01050" "00430227" "05420" "00448201" "00198" "00458112" "05198" "00458112" "05667" "00458138" "05086" "00458139" "05086" "00458140" "05086" "00465487" "05086" "00469410" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01049, 01050, 01051, 01605, 02799, 04214, 05086, 05103, 05198, 05420, 05611, 05667, 05863 ## Count = 136 "{{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}}" "0000217241" "00198" "00285517" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PCWH" "" "0000217246" "00198" "00285523" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" "" "0000217250" "00198" "00285530" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217254" "00198" "00285535" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PCWH" "" "0000217258" "00198" "00285539" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217263" "00198" "00285544" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217264" "00198" "00285545" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome and neuropathy" "" "0000217265" "00198" "00285547" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217266" "00198" "00285549" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217268" "00198" "00285553" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217269" "00198" "00285555" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217273" "00198" "00285559" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cochlear nerve aplasia, CNS hypomyelination, & hyperpigmentation" "" "0000217274" "00198" "00285560" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217278" "00198" "00285570" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217279" "00198" "00285572" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Yemenite deaf-blind hypopigmentation syndrome" "" "0000217283" "00198" "00285585" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000217285" "00198" "00285589" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Shah-Waardenburg syndrome" "" "0000218889" "05420" "00285564" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218891" "05420" "00285573" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218893" "05420" "00285587" "00008" "Unknown" "" "hearing loss (HL)" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000219395" "05667" "00285529" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Waardenburg syndrome" "" "0000219398" "05667" "00285550" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Waardenburg syndrome" "" "0000219400" "05667" "00285554" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Waardenburg syndrome" "" "0000219402" "05667" "00285562" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4C" "Waardenburg syndrome" "" "0000219408" "05667" "00285582" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4C" "Waardenburg syndrome" "" "0000219409" "05667" "00285583" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Waardenburg syndrome" "" "0000219410" "05667" "00285584" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Waardenburg syndrome" "" "0000219411" "05667" "00285586" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4C" "Waardenburg syndrome" "" "0000219413" "05667" "00285594" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome, intermediate" "" "0000219414" "05667" "00285595" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2" "Waardenburg syndrome" "" "0000223391" "00198" "00295915" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Absent speech (HP:0001344); Hearing impairment (HP:0000365); Autism (HP:0000717)" "" "" "" "" "" "" "" "" "" "" "" "0000223431" "05103" "00295955" "03607" "Familial, autosomal dominant" "" "Hearing loss, developmental delay, Kallmann syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000235188" "05086" "00309873" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000239517" "05667" "00315771" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239518" "05667" "00315772" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239519" "05667" "00315773" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239520" "05667" "00315774" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239521" "05667" "00315775" "03808" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239522" "05667" "00315776" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239523" "00198" "00315777" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "YDBHS (mild)" "" "0000239524" "05667" "00315778" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239525" "05667" "00315779" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239526" "05667" "00315780" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239527" "05667" "00315781" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239528" "05667" "00315782" "03808" "Unknown" "" "mother/brother have variant and present with isolated deafness; mother has trigeminal neuralgia" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome, no depigmentation" "" "0000239529" "00198" "00315783" "03808" "Unknown" "" "visual impairment inner ear abnormalities aplasia of cochlear nerves and olfactory bulbs" "" "" "" "" "" "" "" "" "" "PCWH without H, global hypopigmentation" "" "0000239530" "05667" "00315784" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239531" "05667" "00315785" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239532" "05667" "00315786" "03808" "Isolated (sporadic)" "" "inner ear abnormalities" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239533" "00198" "00315787" "03808" "Isolated (sporadic)" "" "inner ear abnormalities autistic-like behaviour" "" "" "" "" "" "" "" "" "" "PCWH without H" "" "0000239534" "00198" "00315788" "03808" "Isolated (sporadic)" "" "hypoventilation inner ear abnormalities" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239535" "00198" "00315789" "03808" "Isolated (sporadic)" "" "hypoventilation" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239536" "00198" "00315790" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239537" "05667" "00315791" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239538" "00198" "00315792" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "demyelinating peripheral neuropathy, po, deafness" "" "0000239539" "05667" "00315793" "03808" "Isolated (sporadic)" "" "inner ear abnormalities" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239540" "00198" "00315794" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239541" "00198" "00315795" "03808" "Isolated (sporadic)" "" "inner ear abnormalities" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239542" "00198" "00315796" "03808" "Unknown" "" "inner ear abnormalities" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239543" "00198" "00315797" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239544" "00198" "00315798" "03808" "Unknown" "" "hypogonadism" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239545" "00198" "00315799" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239546" "00198" "00315800" "03808" "Isolated (sporadic)" "" "inner ear abnormalities" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239547" "05667" "00315801" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239548" "05667" "00315802" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239549" "05667" "00315803" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239550" "00198" "00315804" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239551" "00198" "00315805" "03808" "Isolated (sporadic)" "" "inner ear abnormalities" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239552" "05667" "00315806" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239553" "00198" "00315807" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239554" "00198" "00315808" "03808" "Isolated (sporadic)" "" "absent pain sensation" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239555" "05667" "00315809" "03808" "Isolated (sporadic)" "" "inner ear abnormalities" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome, no depigmentation" "" "0000239556" "00198" "00315810" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239557" "00198" "00315811" "03808" "Isolated (sporadic)" "" "dystopia canthorum" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239558" "00198" "00315812" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239559" "05667" "00315813" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239560" "05863" "00315814" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hirschsprung disease" "" "0000239561" "05667" "00315815" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239562" "05667" "00315816" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239563" "05667" "00315817" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239564" "05667" "00315818" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239565" "05667" "00315819" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239566" "00198" "00315820" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH, global hypopigmentation" "" "0000239567" "05667" "00315821" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239568" "00198" "00315822" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239569" "00198" "00315823" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239570" "05667" "00315824" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239571" "00198" "00315825" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239572" "05667" "00315826" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239573" "00198" "00315827" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239574" "05667" "00315828" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239575" "00198" "00315829" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239576" "00198" "00315830" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239577" "00198" "00315831" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239578" "05667" "00315832" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239579" "05667" "00315833" "03808" "Isolated (sporadic)" "" "bilateral cryptorchidism" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239580" "00198" "00315834" "03808" "Isolated (sporadic)" "" "anosmia, hypermetropia, dental-enamel anomalies" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239581" "00198" "00315835" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, PCWH syndrome" "" "0000239582" "05667" "00315836" "03808" "Familial" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239583" "05667" "00315837" "03808" "Familial" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239584" "05667" "00315838" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239585" "00198" "00315839" "03808" "Isolated (sporadic)" "" "Short stature, pectus excavatum, autism" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239586" "00198" "00315840" "03808" "Isolated (sporadic)" "" "thumb duplication, congenital heart disease" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239587" "00198" "00315841" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239588" "05667" "00315842" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000239589" "00198" "00315843" "03808" "Isolated (sporadic)" "" "autistic-like behaviour" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239590" "00198" "00315844" "03808" "Isolated (sporadic)" "" "Mottled hypopigmentation" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239591" "05667" "00315845" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239592" "05667" "00315846" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000239593" "00198" "00315847" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, Waardenburg syndrome" "" "0000239594" "00198" "00315848" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, deafness" "" "0000239595" "00198" "00315849" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, deafness" "" "0000239596" "00198" "00315850" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, deafness" "" "0000239597" "00198" "00315851" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, Waardenburg syndrome" "" "0000239598" "00198" "00315852" "03808" "Isolated (sporadic)" "" "intellectual disability, dysmorphy, polymalformation" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, deafness" "" "0000239599" "00198" "00315853" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome, deafness" "" "0000239600" "00198" "00315854" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000239601" "05667" "00315855" "03808" "Isolated (sporadic)" "" "The mother has similar depigmented patches" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome, no deafness" "" "0000239602" "00198" "00315856" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PCWH syndrome" "" "0000239603" "05667" "00315857" "03808" "Unknown" "" "The mother has moderate unilateral deafness; the grandmother has extensive skin hypopigmentation with hyperpigmented spots" "" "" "" "" "" "" "" "" "WS4" "Waardenburg syndrome" "" "0000269933" "00198" "00374723" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000272293" "00198" "00377111" "02551" "Unknown" "" "Severe hearing impairment (HP:0012714)" "" "" "" "" "" "" "" "" "" "" "" "0000274273" "04214" "00379745" "03508" "Familial, autosomal dominant" "" "HP:0030515, HP:0000613, HP:0000639, HP:0000551, HP:0001288, HP:0000365, HP:0000006, HP:0002251, HP:0001100, HP:0001263, HP:0001100" "" "" "" "" "" "" "" "" "" "Waardenberg Shah syndrome" "" "0000274569" "01049" "00380716" "04006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000275377" "01050" "00381527" "04006" "Familial, autosomal dominant" "" "Profound sensorineural hearing loss, Blue hypoplastic irides, Vestibular and semicircular canals dysplasia\r\n(mainly lateral and posterior), poorly characterized\r\nvestibular aqueduct." "" "" "" "" "" "" "" "" "" "" "" "0000275378" "01050" "00381528" "04006" "Familial, autosomal dominant" "" "iris heterochromia, white hair forelock and unilateral hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000275379" "01049" "00381529" "04006" "Isolated (sporadic)" "" "Bilateral profound sensorineural hearing loss, iris heterochromia, chronic intestinal obstruction, congenital megacolon was suspected at birth not confirmed" "" "" "" "" "" "" "" "" "" "" "" "0000295640" "05611" "00402879" "02404" "Complex" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308086" "01050" "00416319" "03132" "Isolated (sporadic)" "00y02m?" "" "00y02m?" "00y08m?" "Hearing impairment" "" "" "" "" "" "Waardenburg syndrome type 2E" "hearing loss" "" "0000321035" "05420" "00430227" "04451" "Familial, autosomal dominant" "" "Micropenis; anosmia; low nose bridge; hearing loss; mild cubitus valgus; metacarpal sign; testicular hypotrophy" "" "" "" "" "" "" "" "" "Kallmann syndrome" "Kallmann syndrome" "" "0000337411" "00198" "00448201" "00006" "Unknown" "19y" "hypogonadotropic hypogonadism; optic nerve hypoplasia" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000346557" "05198" "00458112" "04663" "Familial, autosomal dominant" "" "Hypogonadism, Anosmia, Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Hyposmia, Primary amenorrhea" "" "" "" "" "" "" "" "" "WS4C" "Kallmann syndrome" "" "0000346583" "05086" "00458138" "00006" "Familial, autosomal dominant" "08y" "see paper; ..., profound-severe hearing loss, vestibule dilatation, lateral semicircular canal hypoplasia; normal cochlea; normal auditory nerves; father mild hearing loss" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000346584" "05086" "00458139" "00006" "Isolated (sporadic)" "02y" "see paper; ..., profound hearing loss, vestibule, lateral/superior semicircular canal dilatation, posterior semicircular canal aplasia; normal cochlea; left cochlear nerve aplasia" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351035" "05086" "00465487" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000354563" "00198" "00469410" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the ear" "" ## Screenings ## Do not remove or alter this header ## ## Count = 143 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080087" "00080009" "1" "01740" "01740" "2016-09-01 11:47:19" "" "" "SEQ-NG" "DNA" "" "" "0000080137" "00080058" "1" "01740" "01740" "2016-09-01 14:13:41" "" "" "SEQ-NG" "DNA" "" "" "0000286667" "00285517" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286673" "00285523" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286679" "00285529" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286680" "00285530" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286685" "00285535" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286689" "00285539" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286694" "00285544" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286695" "00285545" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286697" "00285547" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286699" "00285549" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286700" "00285550" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286703" "00285553" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286704" "00285554" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286705" "00285555" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286709" "00285559" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286710" "00285560" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286712" "00285562" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286714" "00285564" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286720" "00285570" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286722" "00285572" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286723" "00285573" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286732" "00285582" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286733" "00285583" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286734" "00285584" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286735" "00285585" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286736" "00285586" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286737" "00285587" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286739" "00285589" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286744" "00285594" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286745" "00285595" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000297087" "00295915" "1" "01164" "01164" "2020-03-30 10:43:58" "" "" "SEQ-NG-S" "DNA" "" "" "0000297127" "00295955" "1" "03607" "03607" "2020-03-30 14:09:02" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000311017" "00309873" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316951" "00315771" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:50:59" "SEQ" "DNA" "" "" "0000316952" "00315772" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:51:18" "SEQ" "DNA" "" "" "0000316953" "00315773" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:51:36" "SEQ" "DNA" "" "" "0000316954" "00315774" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:51:56" "SSCA;SEQ" "DNA" "" "" "0000316955" "00315775" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-18 18:00:42" "SEQ" "DNA" "" "" "0000316956" "00315776" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:55:44" "SEQ" "DNA" "" "" "0000316957" "00315777" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:56:53" "SSCA;SEQ" "DNA" "" "" "0000316958" "00315778" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:57:13" "?" "DNA" "" "" "0000316959" "00315779" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:57:33" "SEQ" "DNA" "" "" "0000316960" "00315780" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:57:56" "SSCA;SEQ" "DNA" "" "" "0000316961" "00315781" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:58:15" "SEQ" "DNA" "" "" "0000316962" "00315782" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-31 09:20:05" "SEQ" "DNA" "" "" "0000316963" "00315783" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 15:59:55" "SEQ" "DNA" "" "" "0000316964" "00315784" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:00:24" "SSCA;SEQ" "DNA" "" "" "0000316965" "00315785" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:00:49" "SEQ" "DNA" "" "" "0000316966" "00315786" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-31 09:20:38" "SEQ" "DNA" "" "" "0000316967" "00315787" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:01:39" "DHPLC;SEQ" "DNA" "" "" "0000316968" "00315788" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:01:57" "SEQ" "DNA" "" "" "0000316969" "00315789" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:02:34" "SEQ" "DNA" "" "" "0000316970" "00315790" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:04:02" "SSCA;SEQ" "DNA" "" "" "0000316971" "00315791" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:03:13" "SEQ" "DNA" "" "" "0000316972" "00315792" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:03:37" "SEQ" "DNA" "" "" "0000316973" "00315793" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-31 09:21:02" "SEQ" "DNA" "" "" "0000316974" "00315794" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:04:42" "SEQ" "DNA" "" "" "0000316975" "00315795" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:05:06" "SEQ" "DNA" "" "" "0000316976" "00315796" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-31 09:21:26" "SEQ" "DNA" "" "" "0000316977" "00315797" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:10:08" "SEQ" "DNA" "" "" "0000316978" "00315798" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:10:37" "SSCA;SEQ" "DNA" "" "" "0000316979" "00315799" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:10:58" "SSCA;SEQ" "DNA" "" "" "0000316980" "00315800" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:11:25" "SEQ" "DNA" "" "" "0000316981" "00315801" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:12:17" "SEQ" "DNA" "" "" "0000316982" "00315802" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-31 09:21:48" "?" "DNA" "" "" "0000316983" "00315803" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:13:23" "SSCA;SEQ" "DNA" "" "" "0000316984" "00315804" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:14:02" "SEQ" "DNA" "" "" "0000316985" "00315805" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:14:27" "SEQ" "DNA" "" "" "0000316986" "00315806" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:14:46" "SEQ" "DNA" "" "" "0000316987" "00315807" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:15:16" "SEQ" "DNA" "" "" "0000316988" "00315808" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:11:55" "?" "DNA" "" "" "0000316989" "00315809" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-31 09:22:15" "SEQ" "DNA" "" "" "0000316990" "00315810" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:15:58" "SEQ" "DNA" "" "" "0000316991" "00315811" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2010-02-04 16:16:38" "SEQ" "DNA" "" "" "0000316992" "00315812" "1" "03808" "03808" "2009-11-18 17:36:35" "03808" "2013-12-31 09:22:37" "SEQ" "DNA" "" "" "0000316993" "00315813" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 17:59:02" "DHPLC;SEQ" "DNA" "" "" "0000316994" "00315814" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 17:59:38" "DHPLC;SEQ" "DNA" "" "" "0000316995" "00315815" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 17:58:49" "SEQ" "DNA" "" "" "0000316996" "00315816" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 17:59:14" "SEQ" "DNA" "" "" "0000316997" "00315817" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 17:59:26" "SEQ" "DNA" "" "" "0000316998" "00315818" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 17:59:52" "SEQ" "DNA" "" "" "0000316999" "00315819" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:03:02" "SEQ" "DNA" "" "" "0000317000" "00315820" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-30 15:37:03" "SEQ" "DNA" "" "" "0000317001" "00315821" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:00:56" "DHPLC;SEQ" "DNA" "" "" "0000317002" "00315822" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:01:08" "SEQ" "DNA" "" "" "0000317003" "00315823" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:01:21" "SEQ" "DNA" "" "" "0000317004" "00315824" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:01:35" "SEQ" "DNA" "" "" "0000317005" "00315825" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-31 09:19:32" "SEQ" "DNA" "" "" "0000317006" "00315826" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:02:03" "DHPLC;SEQ" "DNA" "" "" "0000317007" "00315827" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:02:15" "DHPLC;SEQ" "DNA" "" "" "0000317008" "00315828" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:02:27" "SEQ" "DNA" "" "" "0000317009" "00315829" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:02:44" "DHPLC;SEQ" "DNA" "" "" "0000317010" "00315830" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:03:14" "SEQ" "DNA" "" "" "0000317011" "00315831" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:03:25" "SEQ" "DNA" "" "" "0000317012" "00315832" "1" "03808" "03808" "2011-11-18 08:57:38" "03808" "2013-12-18 18:03:38" "SEQ" "DNA" "" "" "0000317013" "00315833" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq;PCRlr" "DNA" "" "" "0000317014" "00315834" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq;FISH" "DNA" "lymphocytes" "" "0000317015" "00315835" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq;FISH" "DNA" "lymphocytes" "" "0000317016" "00315836" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq;PCRlr" "DNA" "" "" "0000317017" "00315837" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq;PCRlr" "DNA" "" "" "0000317018" "00315838" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq" "DNA" "" "" "0000317019" "00315839" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq" "DNA" "" "" "0000317020" "00315840" "1" "03808" "03808" "2013-12-19 09:42:23" "" "" "PCRq;FISH" "DNA" "lymphocytes" "" "0000317021" "00315841" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317022" "00315842" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "PCRq;arrayCGH;PCRlr" "DNA" "" "" "0000317023" "00315843" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "arrayCGH" "DNA" "" "" "0000317024" "00315844" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SSCA;SEQ" "DNA" "" "" "0000317025" "00315845" "1" "03808" "03808" "2013-12-31 09:09:04" "03808" "2013-12-31 09:16:55" "SEQ" "DNA" "" "" "0000317026" "00315846" "1" "03808" "03808" "2013-12-31 09:09:04" "03808" "2013-12-31 09:17:52" "SEQ" "DNA" "" "" "0000317027" "00315847" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317028" "00315848" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317029" "00315849" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317030" "00315850" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317031" "00315851" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317032" "00315852" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317033" "00315853" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317034" "00315854" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317035" "00315855" "1" "03808" "03808" "2013-12-31 09:09:04" "" "" "SEQ" "DNA" "" "" "0000317036" "00315856" "1" "03808" "03808" "2013-12-31 09:09:04" "03808" "2014-04-10 11:13:30" "SEQ" "DNA" "" "" "0000317037" "00315857" "1" "03808" "03808" "2013-12-31 09:09:04" "03808" "2014-04-10 11:15:02" "SEQ" "DNA" "" "" "0000375917" "00374723" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378316" "00377111" "1" "02551" "02551" "2021-07-05 14:05:01" "" "" "SEQ" "DNA" "" "" "0000381429" "00379745" "1" "03508" "03508" "2021-08-13 05:03:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000381930" "00380716" "1" "04006" "04006" "2021-08-19 22:50:39" "" "" "SEQ" "DNA" "" "" "0000382742" "00381527" "1" "04006" "04006" "2021-08-30 15:49:59" "" "" "SEQ" "DNA" "" "" "0000382743" "00381528" "1" "04006" "04006" "2021-08-30 16:11:30" "" "" "SEQ" "DNA" "" "" "0000382744" "00381529" "1" "04006" "04006" "2021-08-30 16:16:50" "" "" "SEQ" "DNA" "" "" "0000404121" "00402879" "1" "02404" "02404" "2022-02-13 16:52:37" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000409490" "00408235" "1" "04294" "04294" "2022-04-18 03:45:08" "" "" "SEQ-NG" "DNA" "" "" "0000417093" "00415812" "1" "04294" "04294" "2022-08-16 15:27:55" "00006" "2022-08-17 10:23:11" "SEQ-NG-I" "DNA" "Blood" "" "0000417096" "00415815" "1" "04294" "04294" "2022-08-17 03:00:56" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000417097" "00415816" "1" "04294" "04294" "2022-08-17 03:03:56" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000417599" "00416319" "1" "03132" "03132" "2022-08-26 22:43:40" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000431641" "00430227" "1" "04451" "04451" "2023-01-16 04:33:02" "" "" "SEQ-NG" "DNA" "Peripheral venous blood" "" "0000449776" "00448201" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459731" "00458112" "1" "04663" "04663" "2024-12-02 14:43:19" "" "" "SEQ-NG" "DNA" "Peripheral blood" "gene panel" "0000459757" "00458138" "1" "00006" "00006" "2024-12-03 11:41:19" "" "" "SEQ" "DNA" "" "" "0000459758" "00458139" "1" "00006" "00006" "2024-12-03 11:47:48" "" "" "SEQ" "DNA" "" "" "0000459759" "00458140" "1" "00006" "00006" "2024-12-03 11:51:07" "" "" "SEQ" "DNA" "" "" "0000467136" "00465487" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000471078" "00469410" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 133 "{{screeningid}}" "{{geneid}}" "0000286667" "SOX10" "0000286673" "SOX10" "0000286679" "SOX10" "0000286680" "SOX10" "0000286685" "SOX10" "0000286689" "SOX10" "0000286694" "SOX10" "0000286695" "SOX10" "0000286697" "SOX10" "0000286699" "SOX10" "0000286700" "SOX10" "0000286703" "SOX10" "0000286704" "SOX10" "0000286705" "SOX10" "0000286709" "SOX10" "0000286710" "SOX10" "0000286712" "SOX10" "0000286714" "SOX10" "0000286720" "SOX10" "0000286722" "SOX10" "0000286723" "SOX10" "0000286732" "SOX10" "0000286733" "SOX10" "0000286734" "SOX10" "0000286735" "SOX10" "0000286736" "SOX10" "0000286737" "SOX10" "0000286739" "SOX10" "0000286744" "SOX10" "0000286745" "SOX10" "0000297127" "SOX10" "0000311017" "SOX10" "0000316951" "SOX10" "0000316952" "SOX10" "0000316953" "SOX10" "0000316954" "SOX10" "0000316955" "SOX10" "0000316956" "SOX10" "0000316957" "SOX10" "0000316958" "SOX10" "0000316959" "SOX10" "0000316960" "SOX10" "0000316961" "SOX10" "0000316962" "SOX10" "0000316963" "SOX10" "0000316964" "SOX10" "0000316965" "SOX10" "0000316966" "SOX10" "0000316967" "SOX10" "0000316968" "SOX10" "0000316969" "SOX10" "0000316970" "SOX10" "0000316971" "SOX10" "0000316972" "SOX10" "0000316973" "SOX10" "0000316974" "SOX10" "0000316975" "SOX10" "0000316976" "SOX10" "0000316977" "SOX10" "0000316978" "SOX10" "0000316979" "SOX10" "0000316980" "SOX10" "0000316981" "SOX10" "0000316982" "SOX10" "0000316983" "SOX10" "0000316984" "SOX10" "0000316985" "SOX10" "0000316986" "SOX10" "0000316987" "SOX10" "0000316988" "SOX10" "0000316989" "SOX10" "0000316990" "SOX10" "0000316991" "SOX10" "0000316992" "SOX10" "0000316993" "SOX10" "0000316994" "SOX10" "0000316995" "SOX10" "0000316996" "SOX10" "0000316997" "SOX10" "0000316998" "SOX10" "0000316999" "SOX10" "0000317000" "SOX10" "0000317001" "SOX10" "0000317002" "SOX10" "0000317003" "SOX10" "0000317004" "SOX10" "0000317005" "SOX10" "0000317006" "SOX10" "0000317007" "SOX10" "0000317008" "SOX10" "0000317009" "SOX10" "0000317010" "SOX10" "0000317011" "SOX10" "0000317012" "SOX10" "0000317013" "SOX10" "0000317014" "SOX10" "0000317015" "SOX10" "0000317016" "SOX10" "0000317017" "SOX10" "0000317018" "SOX10" "0000317019" "SOX10" "0000317020" "SOX10" "0000317021" "SOX10" "0000317022" "SOX10" "0000317023" "SOX10" "0000317024" "SOX10" "0000317025" "SOX10" "0000317026" "SOX10" "0000317027" "SOX10" "0000317028" "SOX10" "0000317029" "SOX10" "0000317030" "SOX10" "0000317031" "SOX10" "0000317032" "SOX10" "0000317033" "SOX10" "0000317034" "SOX10" "0000317035" "SOX10" "0000317036" "SOX10" "0000317037" "SOX10" "0000375917" "EFHC1" "0000381930" "SOX10" "0000382742" "SOX10" "0000382743" "SOX10" "0000382744" "SOX10" "0000409490" "SOX10" "0000417093" "SOX10" "0000417096" "SOX10" "0000417097" "SOX10" "0000417599" "SOX10" "0000431641" "SOX10" "0000459757" "SOX10" "0000459758" "SOX10" "0000459759" "SOX10" ## 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 = 233 "{{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}}" "0000128966" "1" "70" "22" "38369708" "38369708" "subst" "0" "01740" "SOX10_000091" "g.38369708G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.37973701G>A" "" "likely pathogenic" "" "0000129046" "1" "70" "22" "38374089" "38374089" "subst" "0" "01740" "SOX10_000056" "g.38374089C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.37978082C>T" "" "likely pathogenic" "" "0000247700" "0" "10" "22" "38369976" "38369976" "subst" "0.648835" "02330" "SOX10_000094" "g.38369976A>G" "" "" "" "POLR2F(NM_001301130.2):c.293+6799A>G, SOX10(NM_006941.3):c.927T>C (p.H309=), SOX10(NM_006941.4):c.927T>C (p.H309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37973969A>G" "" "benign" "" "0000248391" "0" "10" "22" "38369976" "38369976" "subst" "0.648835" "02325" "SOX10_000094" "g.38369976A>G" "" "" "" "POLR2F(NM_001301130.2):c.293+6799A>G, SOX10(NM_006941.3):c.927T>C (p.H309=), SOX10(NM_006941.4):c.927T>C (p.H309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37973969A>G" "" "benign" "" "0000296108" "0" "70" "22" "38369813" "38369813" "subst" "0" "02330" "SOX10_000033" "g.38369813G>A" "" "" "" "SOX10(NM_006941.4):c.1090C>T (p.Q364*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37973806G>A" "" "likely pathogenic" "" "0000296109" "0" "10" "22" "38379774" "38379774" "subst" "0.0550984" "02330" "SOX10_000102" "g.38379774G>A" "" "" "" "SOX10(NM_006941.4):c.18C>T (p.D6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983767G>A" "" "benign" "" "0000296110" "0" "90" "22" "38370155" "38370155" "subst" "0" "02330" "SOX10_000019" "g.38370155G>A" "" "" "" "SOX10(NM_006941.4):c.748C>T (p.Q250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37974148G>A" "" "pathogenic" "" "0000298436" "0" "90" "22" "38379388" "38379388" "subst" "0" "02325" "SOX10_000007" "g.38379388C>G" "" "" "" "SOX10(NM_006941.4):c.404G>C (p.S135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983381C>G" "" "pathogenic" "" "0000308722" "0" "30" "22" "38379670" "38379670" "subst" "0.000549451" "01943" "SOX10_000101" "g.38379670C>A" "" "" "" "SOX10(NM_006941.3):c.122G>T (p.G41V, p.(Gly41Val)), SOX10(NM_006941.4):c.122G>T (p.G41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983663C>A" "" "likely benign" "" "0000308723" "0" "30" "22" "38379561" "38379561" "subst" "2.93632E-5" "01943" "SOX10_000100" "g.38379561G>A" "" "" "" "SOX10(NM_006941.3):c.231C>T (p.S77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983554G>A" "" "likely benign" "" "0000308724" "0" "30" "22" "38370081" "38370081" "subst" "0.00112706" "01943" "SOX10_000095" "g.38370081G>A" "" "" "" "SOX10(NM_006941.3):c.822C>T (p.G274=), SOX10(NM_006941.4):c.822C>T (p.G274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37974074G>A" "" "likely benign" "" "0000329005" "0" "50" "22" "38369810" "38369810" "subst" "2.94002E-5" "01804" "SOX10_000092" "g.38369810C>G" "" "" "" "SOX10(NM_006941.3):c.1093G>C (p.G365R, p.(Gly365Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37973803C>G" "" "VUS" "" "0000329006" "0" "30" "22" "38370173" "38370173" "subst" "0" "01804" "SOX10_000097" "g.38370173T>G" "" "" "" "SOX10(NM_006941.3):c.730A>C (p.(Thr244Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37974166T>G" "" "likely benign" "" "0000329007" "0" "50" "22" "38370185" "38370185" "subst" "0" "01804" "SOX10_000098" "g.38370185T>G" "" "" "" "SOX10(NM_006941.3):c.718A>C (p.(Thr240Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37974178T>G" "" "VUS" "" "0000329008" "0" "50" "22" "38379781" "38379781" "subst" "0" "01804" "SOX10_000103" "g.38379781T>C" "" "" "" "SOX10(NM_006941.3):c.11A>G (p.(Glu4Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983774T>C" "" "VUS" "" "0000339938" "0" "30" "22" "38369817" "38369817" "subst" "0" "02327" "SOX10_000106" "g.38369817C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37973810C>G" "" "likely benign" "" "0000339939" "0" "10" "22" "38369976" "38369976" "subst" "0.648835" "02327" "SOX10_000094" "g.38369976A>G" "" "" "" "POLR2F(NM_001301130.2):c.293+6799A>G, SOX10(NM_006941.3):c.927T>C (p.H309=), SOX10(NM_006941.4):c.927T>C (p.H309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37973969A>G" "" "benign" "" "0000339940" "0" "10" "22" "38379774" "38379774" "subst" "0.0550984" "02327" "SOX10_000102" "g.38379774G>A" "" "" "" "SOX10(NM_006941.4):c.18C>T (p.D6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983767G>A" "" "benign" "" "0000341964" "0" "50" "22" "38374119" "38374119" "subst" "0" "02327" "SOX10_000108" "g.38374119C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37978112C>T" "" "VUS" "" "0000342023" "0" "90" "22" "38374089" "38374089" "subst" "0" "02327" "SOX10_000056" "g.38374089C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37978082C>T" "" "pathogenic" "" "0000344512" "0" "90" "22" "38379446" "38379446" "subst" "0" "02327" "SOX10_000111" "g.38379446G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983439G>C" "" "pathogenic" "" "0000349692" "0" "90" "22" "38379367" "38379367" "subst" "0" "02327" "SOX10_000109" "g.38379367C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37983360C>T" "" "pathogenic" "" "0000572012" "0" "30" "22" "38369634" "38369634" "subst" "6.51333E-5" "02327" "SOX10_000086" "g.38369634C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37973627C>T" "" "likely benign" "" "0000572013" "0" "30" "22" "38369922" "38369922" "subst" "1.64947E-5" "02330" "SOX10_000087" "g.38369922G>T" "" "" "" "SOX10(NM_006941.4):c.981C>A (p.A327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37973915G>T" "" "likely benign" "" "0000572014" "0" "10" "22" "38369976" "38369976" "subst" "0.648835" "01943" "SOX10_000094" "g.38369976A>G" "" "" "" "POLR2F(NM_001301130.2):c.293+6799A>G, SOX10(NM_006941.3):c.927T>C (p.H309=), SOX10(NM_006941.4):c.927T>C (p.H309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37973969A>G" "" "benign" "" "0000572015" "0" "30" "22" "38370084" "38370084" "subst" "1.22972E-5" "02330" "SOX10_000088" "g.38370084G>A" "" "" "" "SOX10(NM_006941.4):c.819C>T (p.F273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37974077G>A" "" "likely benign" "" "0000572016" "0" "30" "22" "38370168" "38370168" "subst" "1.25805E-5" "01943" "SOX10_000089" "g.38370168C>T" "" "" "" "SOX10(NM_006941.3):c.735G>A (p.P245=), SOX10(NM_006941.4):c.735G>A (p.P245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37974161C>T" "" "likely benign" "" "0000572017" "0" "30" "22" "38370180" "38370180" "subst" "0" "01943" "SOX10_000090" "g.38370180A>T" "" "" "" "SOX10(NM_006941.3):c.723T>A (p.P241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37974173A>T" "" "likely benign" "" "0000572018" "0" "30" "22" "38370233" "38370234" "dup" "0" "02330" "SOX10_000112" "g.38370233_38370234dup" "" "" "" "SOX10(NM_006941.4):c.698-19_698-18dupCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37974226_37974227dup" "" "likely benign" "" "0000572019" "0" "50" "22" "38374120" "38374120" "subst" "0" "02330" "SOX10_000083" "g.38374120G>A" "" "" "" "SOX10(NM_006941.4):c.451C>T (p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37978113G>A" "" "VUS" "" "0000572020" "0" "50" "22" "38379477" "38379477" "subst" "0" "01943" "SOX10_000114" "g.38379477C>G" "" "" "" "SOX10(NM_006941.3):c.315G>C (p.K105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37983470C>G" "" "VUS" "" "0000572021" "0" "10" "22" "38379543" "38379543" "subst" "0.00893535" "02330" "SOX10_000115" "g.38379543G>A" "" "" "" "SOX10(NM_006941.3):c.249C>T (p.Y83=), SOX10(NM_006941.4):c.249C>T (p.Y83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37983536G>A" "" "benign" "" "0000572022" "0" "30" "22" "38379546" "38379546" "subst" "0.000100672" "01943" "SOX10_000116" "g.38379546G>C" "" "" "" "SOX10(NM_006941.3):c.246C>G (p.G82=), SOX10(NM_006941.4):c.246C>G (p.(Gly82=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37983539G>C" "" "likely benign" "" "0000572023" "0" "90" "22" "38379639" "38379639" "del" "0" "01943" "SOX10_000043" "g.38379639del" "" "" "" "SOX10(NM_006941.3):c.155delG (p.G52Afs*57)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37983632del" "" "pathogenic" "" "0000572024" "0" "50" "22" "38379688" "38379690" "dup" "0" "01943" "SOX10_000118" "g.38379688_38379690dup" "" "" "" "SOX10(NM_006941.3):c.114_116dupCGG (p.G39dup), SOX10(NM_006941.4):c.114_116dup (p.(Gly39dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37983681_37983683dup" "" "VUS" "" "0000618596" "0" "30" "22" "38370081" "38370081" "subst" "0.00112706" "02330" "SOX10_000095" "g.38370081G>A" "" "" "" "SOX10(NM_006941.3):c.822C>T (p.G274=), SOX10(NM_006941.4):c.822C>T (p.G274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37974074G>A" "" "likely benign" "" "0000618597" "0" "50" "22" "38370122" "38370122" "subst" "1.64655E-5" "02327" "SOX10_000120" "g.38370122G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37974115G>T" "" "VUS" "" "0000618598" "0" "30" "22" "38370180" "38370180" "subst" "0" "02326" "SOX10_000090" "g.38370180A>T" "" "" "" "SOX10(NM_006941.3):c.723T>A (p.P241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37974173A>T" "" "likely benign" "" "0000618599" "0" "70" "22" "38379790" "38379790" "subst" "0" "02327" "SOX10_000121" "g.38379790A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37983783A>G" "" "likely pathogenic" "" "0000624302" "0" "50" "22" "38369629" "38369630" "del" "0" "02330" "SOX10_000119" "g.38369629_38369630del" "" "" "" "SOX10(NM_006941.4):c.1273_1274delTT (p.F425Lfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37973622_37973623del" "" "VUS" "" "0000642409" "1" "99" "22" "38369498" "38369509" "del" "0" "00004" "SOX10_000040" "g.38369498_38369509del" "" "{DB:DVD}, {PMID:Inoue 2007:17855451}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37973491_37973502del" "" "pathogenic" "" "0000642415" "1" "77" "22" "38369776" "38369776" "subst" "0" "00004" "SOX10_000035" "g.38369776G>C" "" "{DB:DVD}, {PMID:Tang 2015:25991456}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37973769G>C" "" "likely pathogenic" "" "0000642421" "1" "99" "22" "38369840" "38369840" "subst" "0" "00004" "SOX10_000123" "g.38369840G>A" "" "{DB:DVD}, {PMID:Wang 2014:24440785}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37973833G>A" "" "pathogenic" "" "0000642422" "1" "99" "22" "38369844" "38369844" "del" "0" "00004" "SOX10_000031" "g.38369844del" "" "{DB:DVD}, {PMID:Pingault 2010:20127975}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37973839del" "" "pathogenic" "" "0000642427" "1" "99" "22" "38369964" "38369964" "subst" "0" "00004" "SOX10_000029" "g.38369964G>C" "" "{DB:DVD}, {PMID:Jacobs 1992:1636383}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37973957G>C" "" "pathogenic" "" "0000642431" "1" "99" "22" "38369988" "38369988" "del" "0" "00004" "SOX10_000025" "g.38369988del" "" "{DB:DVD}, {PMID:Inoue 2004:15004559}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37973983del" "" "pathogenic" "" "0000642436" "1" "99" "22" "38370151" "38370151" "subst" "0" "00004" "SOX10_000020" "g.38370151G>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37974144G>T" "" "pathogenic" "" "0000642437" "1" "99" "22" "38370155" "38370155" "subst" "0" "00004" "SOX10_000019" "g.38370155G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37974148G>A" "" "pathogenic" "" "0000642439" "1" "99" "22" "38370203" "38370203" "subst" "0" "00004" "SOX10_000018" "g.38370203G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37974196G>A" "" "pathogenic" "" "0000642441" "1" "99" "22" "38370207" "38370207" "subst" "0" "00004" "SOX10_000017" "g.38370207T>G" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37974200T>G" "" "pathogenic" "" "0000642442" "1" "99" "22" "38370207" "38370207" "subst" "0" "00004" "SOX10_000048" "g.38370207T>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37974200T>A" "" "pathogenic" "" "0000642445" "1" "99" "22" "38373950" "38373950" "subst" "0" "00004" "SOX10_000015" "g.38373950G>C" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37977943G>C" "" "pathogenic" "" "0000642446" "1" "99" "22" "38373950" "38373950" "subst" "0" "00004" "SOX10_000134" "g.38373950G>T" "" "{DB:DVD}, {PMID:Chen 2015:25817900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37977943G>T" "" "pathogenic" "" "0000642447" "1" "99" "22" "38374006" "38374006" "subst" "0" "00004" "SOX10_000014" "g.38374006C>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37977999C>A" "" "pathogenic" "" "0000642451" "1" "99" "22" "38374050" "38374050" "subst" "0" "00004" "SOX10_000013" "g.38374050T>G" "" "{DB:DVD}, {PMID:Chaoui 2011:21898658}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37978043T>G" "" "pathogenic" "" "0000642452" "1" "99" "22" "38374052" "38374052" "subst" "0" "00004" "SOX10_000012" "g.38374052G>C" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37978045G>C" "" "pathogenic" "" "0000642454" "1" "99" "22" "38374088" "38374089" "ins" "0" "00004" "SOX10_000135" "g.38374088_38374089insGGAGCA" "" "{DB:DVD}, {PMID:Pingault 1998:9462749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37978081_37978082insGGAGCA" "" "pathogenic" "" "0000642456" "1" "99" "22" "38374090" "38374090" "subst" "0" "00004" "SOX10_000136" "g.38374090G>A" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37978083G>A" "" "pathogenic" "" "0000642462" "1" "99" "22" "38379362" "38379362" "subst" "0" "00004" "SOX10_000008" "g.38379362A>C" "" "{DB:DVD}, {PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983355A>C" "" "pathogenic" "" "0000642464" "1" "99" "22" "38379388" "38379388" "subst" "0" "00004" "SOX10_000007" "g.38379388C>G" "" "{DB:DVD}, {PMID:Hennekam 1996:8911608}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983381C>G" "" "pathogenic" "" "0000642465" "1" "99" "22" "38379389" "38379389" "subst" "0" "00004" "SOX10_000137" "g.38379389T>C" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983382T>C" "" "pathogenic" "" "0000642474" "1" "77" "22" "38379517" "38379521" "del" "0" "00004" "SOX10_000138" "g.38379517_38379521del" "" "{DB:DVD}, {PMID:Tang 2015:25991456}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983510_37983514del" "" "likely pathogenic" "" "0000642475" "1" "99" "22" "38379532" "38379533" "del" "0" "00004" "SOX10_000139" "g.38379532_38379533del" "" "{DB:DVD}, {PMID:Chen 2014:24735604}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983525_37983526del" "" "pathogenic" "" "0000642476" "1" "99" "22" "38379538" "38379538" "subst" "0" "00004" "SOX10_000047" "g.38379538C>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983531C>T" "" "pathogenic" "" "0000642477" "1" "99" "22" "38379543" "38379543" "subst" "0" "00004" "SOX10_000004" "g.38379543G>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983536G>T" "" "pathogenic" "" "0000642478" "1" "99" "22" "38379543" "38379543" "subst" "0" "00004" "SOX10_000140" "g.38379543G>C" "" "{DB:DVD}, {PMID:Pingault 1998:9462749}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983536G>C" "" "pathogenic" "" "0000642479" "1" "99" "22" "38379608" "38379608" "subst" "0" "00004" "SOX10_000141" "g.38379608C>A" "" "{DB:DVD}, {PMID:Vaaralahti 2014:24769923}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983601C>A" "" "pathogenic" "" "0000642481" "1" "99" "22" "38379627" "38379627" "del" "0" "00004" "SOX10_000142" "g.38379627del" "" "{DB:DVD}, {PMID:Inoue 2002:12447940}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983620del" "" "pathogenic" "" "0000642486" "1" "99" "22" "38379677" "38379677" "subst" "0" "00004" "SOX10_000143" "g.38379677C>A" "" "{DB:DVD}, {PMID:Arimoto 2014:24582978}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983670C>A" "" "pathogenic" "" "0000642487" "1" "99" "22" "38379679" "38379679" "del" "0" "00004" "SOX10_000045" "g.38379679del" "" "{DB:DVD}, {PMID:Zhang 2012:21965087}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37983673del" "" "pathogenic" "" "0000659700" "0" "50" "22" "38369544" "38369544" "dup" "0" "01164" "SOX10_000146" "g.38369544dup" "" "" "" "" "ACMG grading: PM2,PM4\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000659744" "0" "90" "22" "38374143" "38374143" "subst" "0" "03607" "SOX10_000145" "g.38374143C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.37978136C>T" "" "pathogenic" "" "0000681891" "0" "70" "22" "38374096" "38374096" "subst" "0" "02327" "SOX10_000125" "g.38374096G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000686167" "1" "50" "22" "38374089" "38374089" "subst" "0" "00006" "SOX10_000056" "g.38374089C>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000693189" "0" "50" "22" "38369815" "38369815" "subst" "0" "02327" "SOX10_000084" "g.38369815G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693190" "0" "90" "22" "38374099" "38374099" "subst" "0" "02327" "SOX10_000126" "g.38374099C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693191" "0" "70" "22" "38379445" "38379445" "subst" "0" "02327" "SOX10_000127" "g.38379445T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693192" "0" "70" "22" "38379459" "38379459" "subst" "0" "01943" "SOX10_000128" "g.38379459G>T" "" "" "" "SOX10(NM_006941.3):c.333C>A (p.F111L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000699132" "0" "99" "22" "38379719" "38379742" "delins" "0" "03808" "SOX10_000001" "g.38379719_38379742delinsCTAGGGCCCTAGCGTCGGGC" "" "{PMID:Pingault 2010:20127975}" "" "c.50-73del24insGCCCGACGCTAGGGCCCTAG" "" "Germline" "" "" "0" "" "" "g.37983712_37983735delinsCTAGGGCCCTAGCGTCGGGC" "" "pathogenic (dominant)" "" "0000699133" "0" "99" "22" "38379665" "38379666" "delins" "0" "03808" "SOX10_000002" "g.38379665_38379666delinsAG" "" "{PMID:Pingault 2002:12189494}" "" "R43X ; 126GC>CT" "" "De novo" "" "" "0" "" "" "g.37983658_37983659delinsAG" "" "pathogenic (dominant)" "" "0000699134" "0" "99" "22" "38379623" "38379623" "del" "0" "03808" "SOX10_000003" "g.38379623del" "" "{PMID:Sham 2001:11546831}" "" "nt168delG" "" "De novo" "" "" "0" "" "" "g.37983617del" "" "pathogenic (dominant)" "" "0000699135" "0" "99" "22" "38379543" "38379543" "subst" "0" "03808" "SOX10_000004" "g.38379543G>T" "" "{PMID:Pingault 1998:9462749}" "" "Y83X (C>A at 249)" "" "De novo" "" "" "0" "" "" "g.37983536G>T" "" "pathogenic (dominant)" "" "0000699136" "11" "33" "22" "38379518" "38379518" "subst" "0.000186069" "03808" "SOX10_000005" "g.38379518C>G" "" "{PMID:Bondurand 2007:17999358}" "" "" "no functional effect in vitro; the patient also carries a full SOX10 gene deletion that is responsible for the disease" "Germline" "" "" "0" "" "" "g.37983511C>G" "" "likely benign" "" "0000699137" "21" "99" "22" "38379463" "38379464" "del" "0" "03808" "SOX10_000006" "g.38379463_38379464del" "" "{PMID:Pingault 2002:12189494}" "" "327delCG" "" "Germline" "" "" "0" "" "" "g.37983457_37983458del" "" "pathogenic (dominant)" "" "0000699138" "0" "77" "22" "38379388" "38379388" "subst" "0" "03808" "SOX10_000007" "g.38379388C>G" "" "{PMID:Bondurand 1999:10441344}" "" "S135T" "" "Unknown" "" "" "0" "" "" "g.37983381C>G" "" "likely pathogenic (dominant)" "" "0000699139" "21" "99" "22" "38379362" "38379362" "subst" "0" "03808" "SOX10_000008" "g.38379362A>C" "" "Touraine 1998 Am J Hum Genet 63:A174" "" "428+2T-G" "" "Germline" "" "" "0" "" "" "g.37983355A>C" "" "pathogenic (dominant)" "" "0000699140" "0" "77" "22" "38374101" "38374101" "subst" "0" "03808" "SOX10_000009" "g.38374101G>A" "" "{PMID:Morin 2008:18348274}" "" "" "" "De novo" "" "" "0" "" "" "g.37978094G>A" "" "likely pathogenic (dominant)" "" "0000699141" "0" "99" "22" "38374089" "38374094" "dup" "0" "03808" "SOX10_000010" "g.38374089_38374094dup" "" "{PMID:Pingault 1998:9462749}" "" "482ins6 (GCTCCG)" "" "De novo" "" "" "0" "" "" "g.37978084_37978089dup" "" "pathogenic (dominant)" "" "0000699142" "0" "99" "22" "38374065" "38374065" "del" "0" "03808" "SOX10_000011" "g.38374065del" "" "{PMID:Iso 2008:18627047}" "" "506delC, p.Pro169fsX284" "" "Germline" "" "" "0" "" "" "g.37978060del" "" "pathogenic (dominant)" "" "0000699143" "21" "99" "22" "38374052" "38374052" "subst" "0" "03808" "SOX10_000012" "g.38374052G>C" "" "{PMID:Pingault 2010:20127975}" "" "" "" "Germline" "" "" "0" "" "" "g.37978045G>C" "" "pathogenic (dominant)" "" "0000699144" "0" "77" "22" "38374050" "38374050" "subst" "0" "03808" "SOX10_000013" "g.38374050T>G" "" "{PMID:Barnett 2009:19208381}" "" "Q174P" "" "Germline" "" "" "0" "" "" "g.37978043T>G" "" "likely pathogenic (dominant)" "" "0000699145" "0" "99" "22" "38374006" "38374006" "subst" "0" "03808" "SOX10_000014" "g.38374006C>A" "" "{PMID:Pingault 1998:9462749}" "" "E189X (G>T at 565)" "" "De novo" "" "" "0" "" "" "g.37977999C>A" "" "pathogenic (dominant)" "" "0000699146" "0" "99" "22" "38373950" "38373950" "subst" "0" "03808" "SOX10_000015" "g.38373950G>C" "" "{PMID:Southard-Smith 1999:10077527}" "" "Y207X" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699147" "0" "99" "22" "38373923" "38373927" "del" "0" "03808" "SOX10_000016" "g.38373923_38373927del" "" "{PMID:Pingault 2010:20127975}" "" "c.644_648delGGCAC" "" "De novo" "" "" "0" "" "" "g.37977917_37977921del" "" "pathogenic (dominant)" "" "0000699148" "0" "99" "22" "38370207" "38370207" "subst" "0" "03808" "SOX10_000017" "g.38370207T>G" "" "{PMID:Sznajer 2008:18348267}" "" "" "" "De novo" "" "" "0" "" "" "g.37974200T>G" "" "pathogenic (dominant)" "" "0000699149" "0" "99" "22" "38370203" "38370203" "subst" "0" "03808" "SOX10_000018" "g.38370203G>A" "" "{PMID:Pingault 2002:12189494}" "" "Q234X" "" "De novo" "" "" "0" "" "" "g.37974196G>A" "" "pathogenic (dominant)" "" "0000699150" "0" "99" "22" "38370155" "38370155" "subst" "0" "03808" "SOX10_000019" "g.38370155G>A" "" "{PMID:Inoue 2002:12447940}" "" "Q250X" "" "Unknown" "" "" "0" "" "" "g.37974148G>A" "" "pathogenic (dominant)" "" "0000699151" "0" "99" "22" "38370151" "38370151" "subst" "0" "03808" "SOX10_000020" "g.38370151G>T" "" "{PMID:Touraine 2000:10762540}" "" "S251X" "" "De novo" "" "" "0" "" "" "g.37974144G>T" "" "pathogenic (dominant)" "" "0000699152" "0" "99" "22" "38370123" "38370123" "del" "0" "03808" "SOX10_000021" "g.38370123del" "" "{PMID:Pingault 2002:12189494}" "" "778delG" "" "De novo" "" "" "0" "" "" "g.37974118del" "" "pathogenic (dominant)" "" "0000699153" "0" "99" "22" "38370106" "38370106" "del" "0" "03808" "SOX10_000022" "g.38370106del" "" "{PMID:Pingault 2000:11026454}" "" "795delG" "" "De novo" "" "" "0" "" "" "g.37974101del" "" "pathogenic (dominant)" "" "0000699154" "0" "99" "22" "38370092" "38370092" "del" "0" "03808" "SOX10_000023" "g.38370092del" "" "{PMID:Pingault 2010:20127975}" "" "c.811delA" "" "Unknown" "" "" "0" "" "" "g.37974085del" "" "pathogenic (dominant)" "" "0000699155" "0" "99" "22" "38370055" "38370056" "ins" "0" "03808" "SOX10_000024" "g.38370055_38370056insA" "" "{PMID:Inoue 2004:15004559}" "" "847insT, fr297X" "" "De novo" "" "" "0" "" "" "g.37974048_37974049insA" "" "pathogenic (dominant)" "" "0000699156" "0" "99" "22" "38369988" "38369988" "del" "0" "03808" "SOX10_000025" "g.38369988del" "" "{PMID:Vinuela 2009:19764030}" "" "c.915delG" "" "De novo" "" "" "0" "" "" "g.37973983del" "" "pathogenic (dominant)" "" "0000699157" "0" "99" "22" "38369982" "38369982" "del" "0" "03808" "SOX10_000026" "g.38369982del" "" "{PMID:Pingault 2010:20127975}" "" "c.921delA" "" "Germline" "" "" "0" "" "" "g.37973975del" "" "pathogenic (dominant)" "" "0000699158" "0" "99" "22" "38369965" "38369965" "dup" "0" "03808" "SOX10_000027" "g.38369965dup" "" "{PMID:Inoue 2004:15004559}" "" "938insA, Y313X" "" "De novo" "" "" "0" "" "" "g.37973958dup" "" "pathogenic (dominant)" "" "0000699159" "21" "99" "22" "38369964" "38369964" "subst" "0" "03808" "SOX10_000028" "g.38369964G>T" "" "{PMID:Touraine 2000:10762540}, {PMID:Korsch 2001:11195028}" "" "Y313X" "suspected mosaicism in the mother (unaffected)" "Germline" "" "" "0" "" "" "g.37973957G>T" "" "pathogenic (dominant)" "" "0000699160" "0" "99" "22" "38369964" "38369964" "subst" "0" "03808" "SOX10_000028" "g.38369964G>T" "" "{PMID:Touraine 2000:10762540}" "" "Y313X" "" "Unknown" "" "" "0" "" "" "g.37973957G>T" "" "pathogenic (dominant)" "" "0000699161" "0" "99" "22" "38369964" "38369964" "subst" "0" "03808" "SOX10_000029" "g.38369964G>C" "" "{PMID:Inoue 2004:15004559}" "" "939C>G, Y313X" "" "De novo" "" "" "0" "" "" "g.37973957G>C" "" "pathogenic (dominant)" "" "0000699162" "11" "99" "22" "38369856" "38369856" "dup" "0" "03808" "SOX10_000030" "g.38369856dup" "" "{PMID:Pingault 2010:20127975}" "" "c.1047dupT" "" "Germline" "" "" "0" "" "" "g.37973849dup" "" "pathogenic (dominant)" "" "0000699163" "0" "99" "22" "38369844" "38369844" "del" "0" "03808" "SOX10_000031" "g.38369844del" "" "Touraine 1998 Am J Hum Genet 63:A174, {PMID:Elmaleh-Berges 2013:23237859}" "" "1058delA" "" "Unknown" "" "" "0" "" "" "g.37973839del" "" "pathogenic (dominant)" "" "0000699164" "21" "99" "22" "38369825" "38369826" "del" "0" "03808" "SOX10_000032" "g.38369825_38369826del" "" "{PMID:Pingault 1998:9462749}" "" "1076delGA" "" "Germline" "" "" "0" "" "" "g.37973821_37973822del" "" "pathogenic (dominant)" "" "0000699165" "0" "99" "22" "38369813" "38369813" "subst" "0" "03808" "SOX10_000033" "g.38369813G>A" "" "{PMID:Inoue 2004:15004559}" "" "1090C>G, Q364X" "" "De novo" "" "" "0" "" "" "g.37973806G>A" "" "pathogenic (dominant)" "" "0000699166" "0" "99" "22" "38369789" "38369789" "subst" "0" "03808" "SOX10_000034" "g.38369789G>A" "" "{PMID:Pingault 2002:12189494}" "" "Q372X" "" "De novo" "" "" "0" "" "" "g.37973782G>A" "" "pathogenic (dominant)" "" "0000699167" "0" "99" "22" "38369776" "38369776" "subst" "0" "03808" "SOX10_000035" "g.38369776G>C" "" "{PMID:Toki 2003:14691634}" "" "376X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699168" "11" "99" "22" "38369774" "38369774" "subst" "0" "03808" "SOX10_000036" "g.38369774G>A" "" "{PMID:Southard-Smith 1999:10077527}" "" "Q377X" "suspected mosaicism in the father (unaffected)" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699169" "0" "99" "22" "38369866" "38369866" "subst" "0" "03808" "SOX10_000037" "g.38369866G>C" "" "{PMID:Verheij 2006:16504559}" "" "S384X" "variant confirmed by author" "De novo" "" "" "0" "" "" "g.37973859G>C" "" "pathogenic (dominant)" "" "0000699170" "0" "99" "22" "38369707" "38369708" "del" "0" "03808" "SOX10_000038" "g.38369707_38369708del" "" "{PMID:Pingault 2010:20127975}" "" "c.1195_1196delCA" "" "De novo" "" "" "0" "" "" "g.37973700_37973701del" "" "pathogenic (dominant)" "" "0000699171" "0" "77" "22" "38369504" "38369504" "subst" "0" "03808" "SOX10_000039" "g.38369504A>T" "" "{PMID:Sham 2001:11546831}" "" "X467K" "" "De novo" "" "" "0" "" "" "g.37973497A>T" "" "likely pathogenic (dominant)" "" "0000699172" "0" "77" "22" "38369492" "38369503" "del" "0" "03808" "SOX10_000040" "g.38369492_38369503del" "" "{PMID:Inoue 1999:10482261}" "" "c.1400_1411delAAAGGGGGCCCT" "" "De novo" "" "" "0" "" "" "g.37973491_37973502del" "" "likely pathogenic (dominant)" "" "0000699173" "0" "77" "22" "38369502" "38369502" "subst" "0" "03808" "SOX10_000041" "g.38369502T>G" "" "{PMID:Pingault 2010:20127975}" "" "" "" "De novo" "" "" "0" "" "" "g.37973495T>G" "" "likely pathogenic (dominant)" "" "0000699174" "0" "99" "22" "38379661" "38379680" "del" "0" "03808" "SOX10_000042" "g.38379661_38379680del" "" "{PMID:Sanchez-Meijas 2010:20130826}" "" "c.112_131del20 (G38Qfs21X)" "loss of transactivation capabilities" "De novo" "" "" "0" "" "" "g.37983656_37983675del" "" "pathogenic (dominant)" "" "0000699175" "21" "99" "22" "38379637" "38379637" "del" "0" "03808" "SOX10_000043" "g.38379637del" "" "{PMID:Sanchez-Meijas 2010:20130826}" "" "153-155del; G52Afs56X" "inherited from unaffected mother; loss of transactivation capabilities" "Germline" "" "" "0" "" "" "g.37983632del" "" "pathogenic (dominant)" "" "0000699176" "0" "99" "22" "38379572" "38379681" "del" "0" "03808" "SOX10_000044" "g.38379572_38379681del" "" "{PMID:Chen 2010:20478267}" "" "110_219del110" "" "Germline" "" "" "0" "" "" "g.37983566_37983675del" "" "pathogenic (dominant)" "" "0000699177" "0" "99" "22" "38379679" "38379679" "del" "0" "03808" "SOX10_000045" "g.38379679del" "" "{PMID:Chen 2010:20478267}" "" "c.113delG" "" "Unknown" "" "" "0" "" "" "g.37983673del" "" "pathogenic (dominant)" "" "0000699178" "0" "99" "22" "38379665" "38379666" "delins" "0" "03808" "SOX10_000046" "g.38379665_38379666delinsAA" "" "{PMID:Chen 2010:20478267}" "" "c.126_127delGCinsTT" "" "Unknown" "" "" "0" "" "" "g.37983658_37983659delinsAA" "" "pathogenic (dominant)" "" "0000699179" "21" "99" "22" "38379538" "38379538" "subst" "0" "03808" "SOX10_000047" "g.38379538C>T" "" "{PMID:Jiang 2011:21531202}" "" "" "inherited from unaffected mother; a mosaicism is suspected." "Germline" "" "" "0" "" "" "g.37983531C>T" "" "pathogenic (dominant)" "" "0000699180" "0" "99" "22" "38370207" "38370207" "subst" "0" "03808" "SOX10_000048" "g.38370207T>A" "" "{PMID:Jiang 2011:21531202}" "" "" "" "De novo" "" "" "0" "" "" "g.37974200T>A" "" "pathogenic (dominant)" "" "0000699181" "0" "99" "22" "38370026" "38370053" "dup" "0" "03808" "SOX10_000049" "g.38370026_38370053dup" "" "{PMID:Unzicker 2011:21822601}" "" "c.850_877dup28" "" "De novo" "" "" "0" "" "" "g.37974019_37974046dup" "" "pathogenic (dominant)" "" "0000699182" "0" "77" "22" "38379476" "38379476" "subst" "0" "03808" "SOX10_000050" "g.38379476G>A" "" "{PMID:Chaoui 2011:21898658}" "" "" "major functional effect in vitro" "Germline" "" "" "0" "" "" "g.37983469G>A" "" "likely pathogenic (dominant)" "" "0000699183" "0" "77" "22" "38379456" "38379456" "subst" "0" "03808" "SOX10_000051" "g.38379456C>T" "" "{PMID:Chaoui 2011:21898658}" "" "" "mild functional effect in vitro" "De novo" "" "" "0" "" "" "g.37983449C>T" "" "likely pathogenic (dominant)" "" "0000699184" "0" "77" "22" "38379456" "38379456" "subst" "0" "03808" "SOX10_000051" "g.38379456C>T" "" "{PMID:Chaoui 2011:21898658}" "" "" "mild functional effect in vitro" "De novo" "" "" "0" "" "" "g.37983449C>T" "" "likely pathogenic (dominant)" "" "0000699185" "21" "77" "22" "38379456" "38379456" "subst" "0" "03808" "SOX10_000052" "g.38379456C>G" "" "{PMID:Chaoui 2011:21898658}" "" "" "mild functional effect in vitro" "Germline" "" "" "0" "" "" "g.37983449C>G" "" "likely pathogenic (dominant)" "" "0000699186" "0" "77" "22" "38379401" "38379401" "subst" "0" "03808" "SOX10_000053" "g.38379401T>G" "" "{PMID:Chaoui 2011:21898658}" "" "" "mild functional effect in vitro" "De novo" "" "" "0" "" "" "g.37983394T>G" "" "likely pathogenic (dominant)" "" "0000699187" "0" "77" "22" "38374137" "38374137" "subst" "0" "03808" "SOX10_000054" "g.38374137A>G" "" "{PMID:Chaoui 2011:21898658}" "" "" "major functional effect in vitro" "Germline" "" "" "0" "" "" "g.37978130A>G" "" "likely pathogenic (dominant)" "" "0000699188" "0" "77" "22" "38374121" "38374121" "subst" "0" "03808" "SOX10_000055" "g.38374121C>G" "" "{PMID:Chaoui 2011:21898658}" "" "" "major functional effect in vitro. Patients also carries the p.Gly321Arg variation with no functional effect in vitro. It is unknown whether they are on the same or different alleles." "De novo" "" "" "0" "" "" "g.37978114C>G" "" "likely pathogenic (dominant)" "" "0000699189" "0" "33" "22" "38369942" "38369942" "subst" "0" "03808" "SOX10_000060" "g.38369942C>G" "" "{PMID:Chaoui 2011:21898658}" "" "" "no functional effect in vitro. Patients also carries the p.Lys150Asn that is thought to be responsible for the disease. It is unknown whether they are on the same or different alleles." "De novo" "" "" "0" "" "" "g.37973935C>G" "" "likely benign" "" "0000699190" "0" "77" "22" "38374089" "38374089" "subst" "0" "03808" "SOX10_000056" "g.38374089C>T" "" "{PMID:Chaoui 2011:21898658}" "" "" "major functional effect in vitro" "Germline" "" "" "0" "" "" "g.37978082C>T" "" "likely pathogenic (dominant)" "" "0000699191" "0" "77" "22" "38374048" "38374048" "subst" "0" "03808" "SOX10_000057" "g.38374048G>C" "" "{PMID:Chaoui 2011:21898658}" "" "" "major functional effect in vitro" "De novo" "" "" "0" "" "" "g.37978041G>C" "" "likely pathogenic (dominant)" "" "0000699192" "0" "77" "22" "38374047" "38374047" "subst" "0" "03808" "SOX10_000058" "g.38374047G>C" "" "{PMID:Chaoui 2011:21898658}" "" "" "major functional effect in vitro" "De novo" "" "" "0" "" "" "g.37978040G>C" "" "likely pathogenic (dominant)" "" "0000699193" "0" "77" "22" "38374047" "38374047" "subst" "0" "03808" "SOX10_000059" "g.38374047G>A" "" "{PMID:Chaoui 2011:21898658}" "" "" "major functional effect in vitro" "Germline" "" "" "0" "" "" "g.37978040G>A" "" "likely pathogenic (dominant)" "" "0000699194" "11" "99" "22" "38370159" "38370160" "del" "0" "03808" "SOX10_000061" "g.38370159_38370160del" "" "{PMID:Zhang 2012:21965087}" "" "c.743_744delAG (E248fsX30)" "" "Germline" "" "" "0" "" "" "g.37974154_37974155del" "" "pathogenic (dominant)" "" "0000699195" "0" "99" "22" "38369818" "38370945" "delins" "0" "03808" "SOX10_000062" "g.38369818_38370945delinsAGG" "" "{PMID:Bondurand 2007:17999358}" "" "697-740_1085delinsCCT" "" "De novo" "" "" "0" "" "" "g.37973811_37974938delinsAGG" "" "pathogenic (dominant)" "" "0000699196" "0" "99" "22" "38368319" "38380539" "" "0" "03808" "SOX10_000063" "g.(?_38368319)_(38380539_?)del" "" "{PMID:Bondurand 2007:17999358}" "" "NT_011520.11:g.(17,738,296_17,740,110)_(17,794,727_17_801_789)del" "whole gene deletion (56 to 68 kb)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699197" "0" "99" "22" "38368319" "38380539" "" "0" "03808" "SOX10_000064" "g.(?_38368319)_(38380539_?)del" "" "{PMID:Bondurand 2007:17999358}" "" "NT_011520.11:g.(17,712,505_17,716,229)_(17,929,647_17_933_832)del" "whole gene deletion (213 to 222 kb)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699198" "20" "99" "22" "38379321" "38379573" "del" "0" "03808" "SOX10_000065" "g.38379321_38379573del" "" "{PMID:Bondurand 2007:17999358}" "" "" "" "Germline" "" "" "0" "" "" "g.37983316_37983568del" "" "pathogenic (dominant)" "" "0000699199" "20" "99" "22" "38373478" "38375254" "del" "0" "03808" "SOX10_000066" "g.38373478_38375254del" "" "{PMID:Bondurand 2007:17999358}" "" "" "" "Germline" "" "" "0" "" "" "g.37977477_37979253del" "" "pathogenic (dominant)" "" "0000699200" "0" "99" "22" "38368319" "38380539" "" "0" "03808" "SOX10_000067" "g.(?_38368319)_(38380539_?)del" "" "{PMID:Bondurand 2007:17999358}" "" "NT_011520.11:g.(16,173,196_16,489,188)_(17,790,847_17_791_697)del" "whole gene deletion (1.3 to 1.6 Mb)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699201" "0" "99" "22" "38368319" "38380539" "" "0" "03808" "SOX10_000068" "g.(?_38368319)_(38380539_?)del" "" "{PMID:Bondurand 2007:17999358}" "" "NT_011520.11:g.(17,357,039_17,432,022)_(18,006,412_18_254_748)del" "whole gene deletion (574 to 898 kb)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699202" "0" "99" "22" "38368319" "38380539" "" "0" "03808" "SOX10_000069" "g.(?_38368319)_(38380539_?)del" "" "{PMID:Bondurand 2007:17999358}" "" "NT_011520.11:g.(Z83846_Z69042)_(18,938,054_19_010_379)del" "whole gene deletion (5.5 to 6.1 Mb)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699203" "0" "99" "22" "38373900" "38373900" "subst" "0" "03808" "SOX10_000070" "g.38373900G>C" "" "{PMID:Parthev 2012:22246888}" "" "Stop at codon 224" "" "Unknown" "" "" "0" "" "" "g.37977893G>C" "" "pathogenic (dominant)" "" "0000699204" "0" "77" "22" "38368319" "38380539" "" "0" "03808" "SOX10_000071" "g.(?_38368319)_(38380539_?)del" "" "{PMID:Bondurand 2012:22378281}" "" "56.6 kb deletion of SOX10 upstream regulatory elements" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000699205" "0" "99" "22" "38368319" "38380539" "" "0" "03808" "SOX10_000072" "g.(?_38368319)_(38380539_?)del" "" "{PMID:Siomou 2012:22842075}" "" "725kb deletion (chr22:38,202,740_38,927,438 NCBI37 built)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000699206" "0" "99" "22" "38369774" "38369774" "subst" "0" "03808" "SOX10_000036" "g.38369774G>A" "" "{PMID:Oshimo 2012:22963253}" "" "" "" "De novo" "" "" "0" "" "" "g.37973767G>A" "" "pathogenic (dominant)" "" "0000699207" "0" "77" "22" "38379394" "38379394" "subst" "0" "03808" "SOX10_000074" "g.38379394T>C" "" "{PMID:Elmaleh-Berges 2013:23237859}" "" "" "" "De novo" "" "" "0" "" "" "g.37983387T>C" "" "likely pathogenic (dominant)" "" "0000699208" "0" "99" "22" "38369863" "38369863" "del" "0" "03808" "SOX10_000075" "g.38369863del" "" "{PMID:Elmaleh-Berges 2013:23237859}" "" "c.1040delC" "" "De novo" "" "" "0" "" "" "g.37973857del" "" "pathogenic (dominant)" "" "0000699209" "20" "99" "22" "38379790" "38379790" "subst" "0" "03808" "SOX10_000076" "g.38379790A>C" "" "{PMID:Pingault 2013:23643381}" "" "Met1?" "A more distal initiation codon is used in vitro but the function of the mutant protein is lost" "Germline" "" "" "0" "" "" "g.37983783A>C" "" "pathogenic (dominant)" "" "0000699210" "0" "77" "22" "38379461" "38379461" "subst" "0" "03808" "SOX10_000077" "g.38379461A>C" "" "{PMID:Pingault 2013:23643381}" "" "" "Loss of function in vitro" "De novo" "" "" "0" "" "" "g.37983454A>C" "" "likely pathogenic (dominant)" "" "0000699211" "0" "77" "22" "38379368" "38379368" "subst" "0" "03808" "SOX10_000078" "g.38379368A>G" "" "{PMID:Pingault 2013:23643381}" "" "" "Loss of function in vitro" "Unknown" "" "" "0" "" "" "g.37983361A>G" "" "likely pathogenic (dominant)" "" "0000699212" "21" "99" "22" "38370206" "38370206" "subst" "0" "03808" "SOX10_000079" "g.38370206C>G" "" "{PMID:Pingault 2013:23643381}" "" "" "" "Germline" "" "" "0" "" "" "g.37974199C>G" "" "pathogenic (dominant)" "" "0000699213" "0" "99" "22" "38369613" "38369613" "del" "0" "03808" "SOX10_000080" "g.38369613del" "" "{PMID:Pingault 2013:23643381}" "" "" "" "De novo" "" "" "0" "" "" "g.37973608del" "" "pathogenic (dominant)" "" "0000699214" "0" "33" "22" "38369605" "38369605" "subst" "8.17568E-6" "03808" "SOX10_000081" "g.38369605C>T" "" "{PMID:Pingault 2013:23643381}" "" "" "This mutant showed a normal function in vitro" "Unknown" "" "" "0" "" "" "g.37973598C>T" "" "likely benign" "" "0000699215" "0" "77" "22" "38379469" "38379469" "subst" "0" "03808" "SOX10_000082" "g.38379469A>G" "" "{PMID:Pingault 2013:23643381}" "" "" "Loss of function in vitro" "Germline" "" "" "0" "" "" "g.37983462A>G" "" "likely pathogenic (dominant)" "" "0000699216" "0" "77" "22" "38374120" "38374120" "subst" "0" "03808" "SOX10_000083" "g.38374120G>A" "" "{PMID:Pingault 2013:23643381}" "" "" "Loss of function in vitro" "Unknown" "" "" "0" "" "" "g.37978113G>A" "" "likely pathogenic (dominant)" "" "0000699217" "0" "73" "22" "38369815" "38369815" "subst" "0" "03808" "SOX10_000084" "g.38369815G>C" "" "{PMID:Jung 2013:23680208}" "" "" "Unlikely to be the cause of the disease as the mutation is said to be de novo but the mother has similar depigmented patches" "De novo" "" "" "0" "" "" "g.37973808G>C" "" "likely pathogenic (dominant)" "" "0000699218" "0" "99" "22" "38369988" "38369988" "del" "0" "03808" "SOX10_000025" "g.38369988del" "" "{PMID:Fernandez 2014:24311220}" "" "c.915delG" "" "De novo" "" "" "0" "" "" "g.37973983del" "" "pathogenic (dominant)" "" "0000699219" "21" "99" "22" "38369795" "38369796" "ins" "0" "03808" "SOX10_000085" "g.38369795_38369796insGTAGTGTGGGGGCCCCAGC" "" "{PMID:Fernandez 2014:24311220}" "" "" "" "Germline" "" "" "0" "" "" "g.37973788_37973789insGTAGTGTGGGGGCCCCAGC" "" "pathogenic (dominant)" "" "0000728160" "0" "50" "22" "38369509" "38369509" "subst" "0" "02325" "POLR2F_000001" "g.38369509C>T" "" "" "" "SOX10(NM_006941.4):c.1394G>A (p.R465Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728161" "0" "90" "22" "38369774" "38369774" "subst" "0" "02329" "SOX10_000036" "g.38369774G>A" "" "" "" "SOX10(NM_006941.4):c.1129C>T (p.Q377*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728162" "0" "50" "22" "38369810" "38369810" "subst" "2.94002E-5" "01943" "SOX10_000092" "g.38369810C>G" "" "" "" "SOX10(NM_006941.3):c.1093G>C (p.G365R, p.(Gly365Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728163" "0" "50" "22" "38369903" "38369903" "subst" "8.23764E-6" "02330" "POLR2F_000002" "g.38369903T>G" "" "" "" "SOX10(NM_006941.4):c.1000A>C (p.I334L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728164" "0" "30" "22" "38373887" "38373887" "subst" "8.24831E-6" "02330" "POLR2F_000003" "g.38373887G>A" "" "" "" "SOX10(NM_006941.4):c.684C>T (p.P228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728165" "0" "90" "22" "38373961" "38373961" "subst" "0" "01943" "POLR2F_000004" "g.38373961G>A" "" "" "" "SOX10(NM_006941.3):c.610C>T (p.Q204*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728166" "0" "30" "22" "38379798" "38379804" "del" "0" "02330" "POLR2F_000005" "g.38379798_38379804del" "" "" "" "SOX10(NM_006941.4):c.-10_-4delCGGGGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787590" "0" "50" "22" "38370205" "38370205" "subst" "0" "00000" "SOX10_000147" "g.38370205C>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.37974198C>G" "" "VUS" "" "0000791037" "0" "90" "22" "38379673" "38379673" "subst" "0" "02551" "SOX10_000148" "g.38379673G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000794890" "0" "70" "22" "38369501" "38370206" "del" "0" "03508" "SOX10_000149" "g.(?_38369501)_(38370206_38373873)del" "" "" "" "698-?_1401+?del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_37973494)_(37974199_37977866)del" "" "VUS" "ACMG" "0000795505" "0" "90" "22" "38379738" "38379756" "del" "0" "04006" "SOX10_000150" "g.38379738_38379756del" "" "{PMID:Batissoco 2021:34599368}" "" "g.38379730_38379748del" "" "Unknown" "?" "" "0" "" "" "g.37983731_37983749del" "{CV-SCV:001792238}" "pathogenic (dominant)" "ACMG" "0000796580" "21" "70" "22" "38379779" "38379780" "delins" "0" "04006" "SOX10_000151" "g.38379779_38379780delinsAT" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37983772_37983773delinsAT" "{CV-SCV:001821525.1}" "pathogenic (dominant)" "ACMG" "0000796582" "0" "70" "22" "38379779" "38379780" "delins" "0" "04006" "SOX10_000151" "g.38379779_38379780delinsAT" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37983772_37983773delinsAT" "{CV-SCV:001821525.1}" "pathogenic (dominant)" "ACMG" "0000796584" "0" "70" "22" "38374123" "38374123" "subst" "0" "04006" "SOX10_000152" "g.38374123T>C" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000809627" "0" "30" "22" "38370078" "38370078" "subst" "0.0001967" "01943" "POLR2F_000006" "g.38370078G>A" "" "" "" "SOX10(NM_006941.3):c.825C>T (p.N275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809628" "0" "90" "22" "38379465" "38379465" "subst" "0" "01943" "POLR2F_000007" "g.38379465G>C" "" "" "" "SOX10(NM_006941.3):c.327C>G (p.N109K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000838395" "0" "70" "22" "38374039" "38374039" "subst" "0" "03779" "SOX10_000153" "g.38374039G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000839717" "0" "90" "22" "38369813" "38369813" "subst" "0" "02404" "SOX10_000033" "g.38369813G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000846663" "0" "90" "22" "38374018" "38374018" "subst" "0" "04294" "SOX10_000154" "g.38374018G>A" "" "" "" "" "F-1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.37978011G>A" "" "pathogenic" "ACMG" "0000856168" "0" "30" "22" "38369673" "38369673" "subst" "0" "01943" "POLR2F_000010" "g.38369673G>A" "" "" "" "SOX10(NM_006941.3):c.1230C>T (p.P410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856169" "0" "30" "22" "38369910" "38369910" "subst" "4.53242E-5" "01943" "POLR2F_000012" "g.38369910G>A" "" "" "" "SOX10(NM_006941.3):c.993C>T (p.S331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866850" "0" "50" "22" "38369619" "38369619" "subst" "4.48237E-5" "02327" "POLR2F_000008" "g.38369619C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866851" "0" "50" "22" "38369662" "38369662" "subst" "4.47832E-5" "02327" "POLR2F_000009" "g.38369662T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866852" "0" "50" "22" "38369720" "38369720" "subst" "4.10573E-6" "01943" "POLR2F_000011" "g.38369720T>C" "" "" "" "SOX10(NM_006941.3):c.1183A>G (p.I395V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000876608" "0" "70" "22" "38379456" "38379456" "subst" "0" "04294" "SOX10_000051" "g.38379456C>T" "" "" "entsj" "" "" "Germline/De novo (untested)" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000876612" "1" "90" "22" "38374017" "38374030" "del" "0" "04294" "SOX10_000155" "g.38374017_38374030del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.37978010_37978023del" "" "pathogenic" "ACMG" "0000876613" "0" "90" "22" "38370141" "38370141" "del" "0" "04294" "SOX10_000156" "g.38370141del" "" "" "" "762delA" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.37974134del" "" "pathogenic" "ACMG" "0000877318" "0" "90" "22" "38370189" "38370196" "del" "0" "03132" "SOX10_000157" "g.38370189_38370196del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37974182_37974189del" "" "pathogenic" "ACMG" "0000895738" "0" "50" "22" "38370089" "38370089" "subst" "0" "02325" "POLR2F_000013" "g.38370089C>T" "" "" "" "SOX10(NM_006941.4):c.814G>A (p.D272N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895739" "0" "30" "22" "38373911" "38373911" "subst" "1.64614E-5" "02330" "POLR2F_000014" "g.38373911G>C" "" "" "" "SOX10(NM_006941.4):c.660C>G (p.G220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895740" "0" "90" "22" "38374006" "38374006" "subst" "0" "02327" "SOX10_000014" "g.38374006C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895741" "0" "70" "22" "38379470" "38379470" "subst" "0" "02327" "POLR2F_000015" "g.38379470T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895742" "0" "30" "22" "38379543" "38379543" "subst" "0.00893535" "02326" "SOX10_000115" "g.38379543G>A" "" "" "" "SOX10(NM_006941.3):c.249C>T (p.Y83=), SOX10(NM_006941.4):c.249C>T (p.Y83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915549" "0" "90" "22" "38369707" "38369708" "del" "0" "02327" "SOX10_000038" "g.38369707_38369708del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915550" "0" "90" "22" "38369828" "38369829" "del" "0" "02329" "SOX10_000032" "g.38369828_38369829del" "" "" "" "SOX10(NM_006941.4):c.1077_1078delGA (p.E359Dfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000916861" "0" "70" "22" "38374143" "38374143" "subst" "0" "04451" "SOX10_000158" "g.38374143C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37978136C>G" "" "likely pathogenic" "ACMG" "0000927174" "0" "90" "22" "38369800" "38369818" "del" "0" "02327" "POLR2F_000016" "g.38369800_38369818del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927175" "0" "70" "22" "38379377" "38379377" "subst" "0" "02327" "POLR2F_000017" "g.38379377C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931298" "0" "50" "22" "38369593" "38369593" "subst" "4.09346E-6" "02327" "POLR2F_000018" "g.38369593G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960259" "0" "70" "22" "38379451" "38379451" "subst" "0" "00006" "SOX10_000159" "g.38379451C>G" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37983444C>G" "" "likely pathogenic (dominant)" "" "0000970487" "0" "50" "22" "38370184" "38370184" "subst" "0" "02327" "POLR2F_000019" "g.38370184G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970488" "0" "10" "22" "38379670" "38379670" "subst" "0.000549451" "02330" "SOX10_000101" "g.38379670C>A" "" "" "" "SOX10(NM_006941.3):c.122G>T (p.G41V, p.(Gly41Val)), SOX10(NM_006941.4):c.122G>T (p.G41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984224" "0" "50" "22" "38379455" "38379455" "subst" "0" "02327" "POLR2F_000020" "g.38379455C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984225" "0" "50" "22" "38379536" "38379536" "subst" "0" "01804" "POLR2F_000021" "g.38379536T>C" "" "" "" "SOX10(NM_006941.4):c.256A>G (p.(Thr86Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984226" "0" "30" "22" "38379546" "38379546" "subst" "0.000100672" "01804" "SOX10_000116" "g.38379546G>C" "" "" "" "SOX10(NM_006941.3):c.246C>G (p.G82=), SOX10(NM_006941.4):c.246C>G (p.(Gly82=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984227" "0" "30" "22" "38379661" "38379661" "subst" "0.000132256" "02326" "POLR2F_000022" "g.38379661G>C" "" "" "" "SOX10(NM_006941.3):c.131C>G (p.A44G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984228" "0" "30" "22" "38379688" "38379690" "dup" "0" "01804" "SOX10_000118" "g.38379688_38379690dup" "" "" "" "SOX10(NM_006941.3):c.114_116dupCGG (p.G39dup), SOX10(NM_006941.4):c.114_116dup (p.(Gly39dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006060" "0" "90" "22" "38370253" "38370263" "del" "0" "01804" "POLR2F_000023" "g.38370253_38370263del" "" "" "" "SOX10(NM_006941.3):c.698-52_698-42delCTCTAACCTGC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001006061" "0" "50" "22" "38373970" "38373970" "subst" "0" "02327" "POLR2F_000024" "g.38373970C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006062" "0" "30" "22" "38373997" "38373997" "subst" "0.00014068" "02330" "POLR2F_000025" "g.38373997C>T" "" "" "" "SOX10(NM_006941.4):c.574G>A (p.G192S, p.(Gly192Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006063" "0" "30" "22" "38374021" "38374021" "subst" "1.65835E-5" "01804" "POLR2F_000026" "g.38374021C>T" "" "" "" "SOX10(NM_006941.3):c.550G>A (p.(Ala184Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006064" "0" "90" "22" "38379457" "38379457" "subst" "0" "02327" "POLR2F_000027" "g.38379457A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001006065" "0" "30" "22" "38379670" "38379670" "subst" "0.000549451" "01804" "SOX10_000101" "g.38379670C>A" "" "" "" "SOX10(NM_006941.3):c.122G>T (p.G41V, p.(Gly41Val)), SOX10(NM_006941.4):c.122G>T (p.G41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001012275" "0" "70" "22" "38374079" "38374079" "subst" "0" "03779" "SOX10_000160" "g.38374079G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001015944" "0" "10" "22" "38370150" "38370150" "subst" "0.000551794" "02330" "POLR2F_000028" "g.38370150C>T" "" "" "" "SOX10(NM_006941.4):c.753G>A (p.S251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001017845" "21" "70" "22" "38374065" "38374065" "subst" "0" "04663" "SOX10_000161" "g.38374065G>A" "" "{PMID:Graziani 2024:39119450}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37978058G>A" "" "likely pathogenic (dominant)" "ACMG" "0001017875" "11" "70" "22" "38374065" "38374065" "subst" "0" "00006" "SOX10_000161" "g.38374065G>A" "" "{PMID:Pingault 2014:25256313}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37978058G>A" "" "likely pathogenic (dominant)" "" "0001017876" "0" "90" "22" "38369779" "38369779" "dup" "0" "00006" "SOX10_000162" "g.38369779dup" "" "{PMID:Pingault 2014:25256313}" "" "1125dupC" "" "De novo" "-" "" "0" "" "" "g.37973772dup" "" "pathogenic (dominant)" "" "0001017877" "21" "10" "22" "38370253" "38370263" "del" "0" "00006" "POLR2F_000023" "g.38370253_38370263del" "" "{PMID:Pingault 2014:25256313}" "" "698-48_698-58del" "" "Germline" "no" "" "0" "" "" "g.37974246_37974256del" "" "benign" "" "0001043858" "0" "50" "22" "38369942" "38369942" "subst" "0" "01804" "POLR2F_000029" "g.38369942C>T" "" "" "" "SOX10(NM_006941.4):c.961G>A (p.(Gly321Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043859" "0" "30" "22" "38370168" "38370168" "subst" "1.25805E-5" "02330" "SOX10_000089" "g.38370168C>T" "" "" "" "SOX10(NM_006941.3):c.735G>A (p.P245=), SOX10(NM_006941.4):c.735G>A (p.P245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043860" "0" "30" "22" "38373997" "38373997" "subst" "0.00014068" "01804" "POLR2F_000025" "g.38373997C>T" "" "" "" "SOX10(NM_006941.4):c.574G>A (p.G192S, p.(Gly192Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043861" "0" "50" "22" "38380488" "38380488" "subst" "0" "01804" "POLR2F_000030" "g.38380488G>A" "" "" "" "SOX10(NM_006941.4):c.-227C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044905" "1" "90" "22" "38379477" "38379478" "del" "0" "00006" "SOX10_000163" "g.38379477_38379478del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.37983470_37983471del" "" "pathogenic (dominant)" "" "0001059200" "0" "90" "22" "38379543" "38379543" "subst" "0" "00006" "SOX10_000140" "g.38379543G>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.37983536G>C" "" "pathogenic" "" "0001067518" "0" "30" "22" "38379320" "38379320" "subst" "2.84881E-5" "02325" "POLR2F_000031" "g.38379320C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001070242" "0" "70" "22" "38379695" "38379695" "del" "0" "03779" "SOX10_000164" "g.38379695del" "" "" "" "" "" "Unknown" "" "" "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 SOX10 ## Count = 233 "{{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}}" "0000128966" "00020045" "70" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Gln399*)" "4" "0000129046" "00020045" "70" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "3" "0000247700" "00020045" "10" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(His309=)" "4" "0000248391" "00020045" "10" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(His309=)" "4" "0000296108" "00020045" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Gln364Ter)" "4" "0000296109" "00020045" "10" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Asp6=)" "2" "0000296110" "00020045" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Gln250Ter)" "4" "0000298436" "00020045" "90" "404" "0" "404" "0" "c.404G>C" "r.(?)" "p.(Ser135Thr)" "2" "0000308722" "00020045" "30" "122" "0" "122" "0" "c.122G>T" "r.(?)" "p.(Gly41Val)" "2" "0000308723" "00020045" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Ser77=)" "2" "0000308724" "00020045" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Gly274=)" "4" "0000329005" "00020045" "50" "1093" "0" "1093" "0" "c.1093G>C" "r.(?)" "p.(Gly365Arg)" "4" "0000329006" "00020045" "30" "730" "0" "730" "0" "c.730A>C" "r.(?)" "p.(Thr244Pro)" "4" "0000329007" "00020045" "50" "718" "0" "718" "0" "c.718A>C" "r.(?)" "p.(Thr240Pro)" "4" "0000329008" "00020045" "50" "11" "0" "11" "0" "c.11A>G" "r.(?)" "p.(Glu4Gly)" "2" "0000339938" "00020045" "30" "1086" "0" "1086" "0" "c.1086G>C" "r.(?)" "p.(Gly362=)" "4" "0000339939" "00020045" "10" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(His309=)" "4" "0000339940" "00020045" "10" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Asp6=)" "2" "0000341964" "00020045" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Arg151His)" "3" "0000342023" "00020045" "90" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "3" "0000344512" "00020045" "90" "346" "0" "346" "0" "c.346C>G" "r.(?)" "p.(Gln116Glu)" "2" "0000349692" "00020045" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Trp142Ter)" "2" "0000572012" "00020045" "30" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Ser423=)" "4" "0000572013" "00020045" "30" "981" "0" "981" "0" "c.981C>A" "r.(?)" "p.(Ala327=)" "4" "0000572014" "00020045" "10" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(His309=)" "4" "0000572015" "00020045" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Phe273=)" "4" "0000572016" "00020045" "30" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Pro245=)" "4" "0000572017" "00020045" "30" "723" "0" "723" "0" "c.723T>A" "r.(?)" "p.(Pro241=)" "4" "0000572018" "00020045" "30" "698" "-19" "698" "-18" "c.698-19_698-18dup" "r.(=)" "p.(=)" "3i" "0000572019" "00020045" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "3" "0000572020" "00020045" "50" "315" "0" "315" "0" "c.315G>C" "r.(?)" "p.(Lys105Asn)" "2" "0000572021" "00020045" "10" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Tyr83=)" "2" "0000572022" "00020045" "30" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(Gly82=)" "2" "0000572023" "00020045" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Gly52AlafsTer57)" "2" "0000572024" "00020045" "50" "114" "0" "116" "0" "c.114_116dup" "r.(?)" "p.(Gly39dup)" "2" "0000618596" "00020045" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Gly274=)" "4" "0000618597" "00020045" "50" "781" "0" "781" "0" "c.781C>A" "r.(?)" "p.(Arg261Ser)" "4" "0000618598" "00020045" "30" "723" "0" "723" "0" "c.723T>A" "r.(?)" "p.(Pro241=)" "4" "0000618599" "00020045" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "2" "0000624302" "00020045" "50" "1273" "0" "1274" "0" "c.1273_1274del" "r.(?)" "p.(Phe425LeufsTer16)" "4" "0000642409" "00020045" "99" "1400" "0" "1411" "0" "c.1400_*10del" "r.(?)" "p.(*467Cysext*82)" "4" "0000642415" "00020045" "77" "1127" "0" "1127" "0" "c.1127C>G" "r.(?)" "p.(Ser376Ter)" "4" "0000642421" "00020045" "99" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Gln355*)" "4" "0000642422" "00020045" "99" "1059" "0" "1059" "0" "c.1059del" "r.(?)" "p.(Ala354ProfsTer3)" "4" "0000642427" "00020045" "99" "939" "0" "939" "0" "c.939C>G" "r.(?)" "p.(Tyr313Ter)" "4" "0000642431" "00020045" "99" "915" "0" "915" "0" "c.915del" "r.(?)" "p.(His306ThrfsTer5)" "4" "0000642436" "00020045" "99" "752" "0" "752" "0" "c.752C>A" "r.(?)" "p.(Ser251*)" "4" "0000642437" "00020045" "99" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Gln250*)" "4" "0000642439" "00020045" "99" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "4" "0000642441" "00020045" "99" "698" "-2" "698" "-2" "c.698-2A>C" "r.spl?" "p.?" "3i" "0000642442" "00020045" "99" "698" "-2" "698" "-2" "c.698-2A>T" "r.spl?" "p.?" "3i" "0000642445" "00020045" "99" "621" "0" "621" "0" "c.621C>G" "r.(?)" "p.(Tyr207*)" "3" "0000642446" "00020045" "99" "621" "0" "621" "0" "c.621C>A" "r.(?)" "p.(Tyr207*)" "3" "0000642447" "00020045" "99" "565" "0" "565" "0" "c.565G>T" "r.(?)" "p.(Glu189*)" "3" "0000642451" "00020045" "99" "521" "0" "521" "0" "c.521A>C" "r.(?)" "p.(Gln174Pro)" "3" "0000642452" "00020045" "99" "519" "0" "519" "0" "c.519C>G" "r.(?)" "p.(Tyr173*)" "3" "0000642454" "00020045" "99" "483" "0" "484" "0" "c.483_484insGCTCCT" "r.(?)" "p.(Arg161_Met162insAlaPro)" "3" "0000642456" "00020045" "99" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Cys)" "3" "0000642462" "00020045" "99" "428" "2" "428" "2" "c.428+2T>G" "r.spl?" "p.?" "2i" "0000642464" "00020045" "99" "404" "0" "404" "0" "c.404G>C" "r.(?)" "p.(Ser135Thr)" "2" "0000642465" "00020045" "99" "403" "0" "403" "0" "c.403A>G" "r.(?)" "p.(Ser135Gly)" "2" "0000642474" "00020045" "77" "271" "0" "275" "0" "c.271_275del" "r.(?)" "p.(Pro91Alafs*41)" "2" "0000642475" "00020045" "99" "259" "0" "260" "0" "c.259_260del" "r.(?)" "p.(Leu87Glyfs*46)" "2" "0000642476" "00020045" "99" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Trp85*)" "2" "0000642477" "00020045" "99" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.(Tyr83*)" "2" "0000642478" "00020045" "99" "249" "0" "249" "0" "c.249C>G" "r.(?)" "p.(Tyr83*)" "2" "0000642479" "00020045" "99" "184" "0" "184" "0" "c.184G>T" "r.(?)" "p.(Glu62*)" "2" "0000642481" "00020045" "99" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Lys56Argfs*53)" "2" "0000642486" "00020045" "99" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Gly39*)" "2" "0000642487" "00020045" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Alafs*71)" "2" "0000659700" "00020045" "50" "1352" "0" "1359" "0" "c.1352_1359dup" "r.(?)" "p.(His454Alafs*51)" "4" "0000659744" "00020045" "90" "429" "-1" "429" "-1" "c.429-1G>A" "r.spl" "p.?" "2i" "0000681891" "00020045" "70" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Trp)" "3" "0000686167" "00020045" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "3" "0000693189" "00020045" "50" "1088" "0" "1088" "0" "c.1088C>G" "r.(?)" "p.(Pro363Arg)" "4" "0000693190" "00020045" "90" "472" "0" "472" "0" "c.472G>T" "r.(?)" "p.(Glu158Ter)" "3" "0000693191" "00020045" "70" "347" "0" "347" "0" "c.347A>T" "r.(?)" "p.(Gln116Leu)" "2" "0000693192" "00020045" "70" "333" "0" "333" "0" "c.333C>A" "r.(?)" "p.(Phe111Leu)" "2" "0000699132" "00020045" "99" "50" "0" "73" "0" "c.50_73delinsGCCCGACGCTAGGGCCCTAG" "r.(?)" "p.(Ser17Cysfs*7)" "2" "0000699133" "00020045" "99" "126" "0" "127" "0" "c.126_127delinsCT" "r.(?)" "p.(Arg43*)" "2" "0000699134" "00020045" "99" "169" "0" "169" "0" "c.169del" "r.(?)" "p.(Glu57Serfs*52)" "2" "0000699135" "00020045" "99" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.(Tyr83*)" "2" "0000699136" "00020045" "33" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Val92Leu)" "2" "0000699137" "00020045" "99" "328" "0" "329" "0" "c.328_329del" "r.(?)" "p.(Ala110Leufs*23)" "2" "0000699138" "00020045" "77" "404" "0" "404" "0" "c.404G>C" "r.(?)" "p.(Ser135Thr)" "2" "0000699139" "00020045" "99" "428" "2" "428" "2" "c.428+2T>G" "r.spl" "p.?" "2i" "0000699140" "00020045" "77" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "3" "0000699141" "00020045" "99" "477" "0" "482" "0" "c.477_482dup" "r.(?)" "p.(Leu160_Arg161dup)" "3" "0000699142" "00020045" "99" "506" "0" "506" "0" "c.506del" "r.(?)" "p.(Pro169Argfs*117)" "3" "0000699143" "00020045" "99" "519" "0" "519" "0" "c.519C>G" "r.(?)" "p.(Tyr173*)" "3" "0000699144" "00020045" "77" "521" "0" "521" "0" "c.521A>C" "r.(?)" "p.(Gln174Pro)" "3" "0000699145" "00020045" "99" "565" "0" "565" "0" "c.565G>T" "r.(?)" "p.(Glu189*)" "3" "0000699146" "00020045" "99" "621" "0" "621" "0" "c.621C>G" "r.(?)" "p.(Tyr207*)" "3" "0000699147" "00020045" "99" "644" "0" "648" "0" "c.644_648del" "r.(?)" "p.(Arg215Profs*64)" "3" "0000699148" "00020045" "99" "698" "-2" "698" "-2" "c.698-2A>C" "r.spl" "p.?" "3i" "0000699149" "00020045" "99" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "4" "0000699150" "00020045" "99" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Gln250*)" "4" "0000699151" "00020045" "99" "752" "0" "752" "0" "c.752C>A" "r.(?)" "p.(Ser251*)" "4" "0000699152" "00020045" "99" "780" "0" "780" "0" "c.780del" "r.(?)" "p.(Arg261Alafs*25)" "4" "0000699153" "00020045" "99" "797" "0" "797" "0" "c.797del" "r.(?)" "p.(Gly266Alafs*20)" "4" "0000699154" "00020045" "99" "811" "0" "811" "0" "c.811del" "r.(?)" "p.(Ile271Serfs*15)" "4" "0000699155" "00020045" "99" "847" "0" "848" "0" "c.847_848insT" "r.(?)" "p.(His283Leufs*11)" "4" "0000699156" "00020045" "99" "915" "0" "915" "0" "c.915del" "r.(?)" "p.(His306Thrfs*5)" "4" "0000699157" "00020045" "99" "921" "0" "921" "0" "c.921del" "r.(?)" "p.(Gly308Alafs*3)" "4" "0000699158" "00020045" "99" "938" "0" "938" "0" "c.938dup" "r.(?)" "p.(Tyr313*)" "4" "0000699159" "00020045" "99" "939" "0" "939" "0" "c.939C>A" "r.(?)" "p.(Tyr313*)" "4" "0000699160" "00020045" "99" "939" "0" "939" "0" "c.939C>A" "r.(?)" "p.(Tyr313*)" "4" "0000699161" "00020045" "99" "939" "0" "939" "0" "c.939C>G" "r.(?)" "p.(Tyr313*)" "4" "0000699162" "00020045" "99" "1047" "0" "1047" "0" "c.1047dup" "r.(?)" "p.(Val350Cysfs*52)" "4" "0000699163" "00020045" "99" "1059" "0" "1059" "0" "c.1059del" "r.(?)" "p.(Ala354Profs*3)" "4" "0000699164" "00020045" "99" "1077" "0" "1078" "0" "c.1077_1078del" "r.(?)" "p.(Glu359Aspfs*42)" "4" "0000699165" "00020045" "99" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Gln364*)" "4" "0000699166" "00020045" "99" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "4" "0000699167" "00020045" "99" "1127" "0" "1127" "0" "c.1127C>G" "r.(?)" "p.(Ser376*)" "4" "0000699168" "00020045" "99" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Gln377*)" "4" "0000699169" "00020045" "99" "1037" "0" "1037" "0" "c.1037C>G" "r.(?)" "p.(Ser346*)" "4" "0000699170" "00020045" "99" "1195" "0" "1196" "0" "c.1195_1196del" "r.(?)" "p.(Gln399Valfs*2)" "4" "0000699171" "00020045" "77" "1399" "0" "1399" "0" "c.1399T>A" "r.(?)" "p.(*467Lysext*86)" "4" "0000699172" "00020045" "77" "1400" "0" "1411" "0" "c.1400_*10del" "r.(?)" "p.(*467Cysext*82)" "4" "0000699173" "00020045" "77" "1401" "0" "1401" "0" "c.1401A>C" "r.(?)" "p.(*467Tyrext*86)" "4" "0000699174" "00020045" "99" "112" "0" "131" "0" "c.112_131del" "r.(?)" "p.(Gly38Glnfs*22)" "2" "0000699175" "00020045" "99" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Gly52Alafs*57)" "2" "0000699176" "00020045" "99" "111" "0" "220" "0" "c.111_220del" "r.(?)" "p.(Gly39Argfs*58)" "2" "0000699177" "00020045" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Alafs*71)" "2" "0000699178" "00020045" "99" "126" "0" "127" "0" "c.126_127delinsTT" "r.(?)" "p.(Arg43*)" "2" "0000699179" "00020045" "99" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Trp85*)" "2" "0000699180" "00020045" "99" "698" "-2" "698" "-2" "c.698-2A>T" "r.spl" "p.?" "3i" "0000699181" "00020045" "99" "850" "0" "877" "0" "c.850_877dup" "r.(?)" "p.(Asp293Glyfs*10)" "4" "0000699182" "00020045" "77" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Trp)" "2" "0000699183" "00020045" "77" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Met112Ile)" "2" "0000699184" "00020045" "77" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Met112Ile)" "2" "0000699185" "00020045" "77" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(Met112Ile)" "2" "0000699186" "00020045" "77" "391" "0" "391" "0" "c.391A>C" "r.(?)" "p.(Asn131His)" "2" "0000699187" "00020045" "77" "434" "0" "434" "0" "c.434T>C" "r.(?)" "p.(Leu145Pro)" "3" "0000699188" "00020045" "77" "450" "0" "450" "0" "c.450G>C" "r.(?)" "p.(Lys150Asn)" "3" "0000699189" "00020045" "33" "961" "0" "961" "0" "c.961G>C" "r.(?)" "p.(Gly321Arg)" "4" "0000699190" "00020045" "77" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "3" "0000699191" "00020045" "77" "523" "0" "523" "0" "c.523C>G" "r.(?)" "p.(Pro175Ala)" "3" "0000699192" "00020045" "77" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Pro175Arg)" "3" "0000699193" "00020045" "77" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Pro175Leu)" "3" "0000699194" "00020045" "99" "743" "0" "744" "0" "c.743_744del" "r.(?)" "p.(Glu248Alafs*32)" "4" "0000699195" "00020045" "99" "698" "-740" "1085" "0" "c.698-740_1085delinsCCT" "r.?" "p.?" "3i_4" "0000699196" "00020045" "99" "0" "0" "0" "0" "c.-278_*1183{0}" "r.0" "p.0" "_1_4_" "0000699197" "00020045" "99" "0" "0" "0" "0" "c.-278_*1183{0}" "r.0" "p.0" "_1_4_" "0000699198" "00020045" "99" "219" "0" "428" "43" "c.219_428+43del" "r.spl" "p.?" "2_2i" "0000699199" "00020045" "99" "429" "-1112" "697" "396" "c.429-1112_697+396del" "r.?" "p.?" "2i_3i" "0000699200" "00020045" "99" "0" "0" "0" "0" "c.-278_*1183{0}" "r.0" "p.0" "_1_4_" "0000699201" "00020045" "99" "0" "0" "0" "0" "c.-278_*1183{0}" "r.0" "p.0" "_1_4_" "0000699202" "00020045" "99" "0" "0" "0" "0" "c.-278_*1183{0}" "r.0" "p.0" "_1_4_" "0000699203" "00020045" "99" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.(Ser224*)" "3" "0000699204" "00020045" "77" "0" "0" "0" "0" "c.-278_*1183{0}" "r.0" "p.0" "_1_4_" "0000699205" "00020045" "99" "0" "0" "0" "0" "c.-278_*1183{0}" "r.0" "p.0" "_1_4_" "0000699206" "00020045" "99" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Gln377*)" "4" "0000699207" "00020045" "77" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(Glu133Gly)" "2" "0000699208" "00020045" "99" "1040" "0" "1040" "0" "c.1040del" "r.(?)" "p.(Pro347Hisfs*10)" "4" "0000699209" "00020045" "99" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "2" "0000699210" "00020045" "77" "331" "0" "331" "0" "c.331T>G" "r.(?)" "p.(Phe111Val)" "2" "0000699211" "00020045" "77" "424" "0" "424" "0" "c.424T>C" "r.(?)" "p.(Trp142Arg)" "2" "0000699212" "00020045" "99" "698" "-1" "698" "-1" "c.698-1G>C" "r.spl" "p.?" "3i" "0000699213" "00020045" "99" "1290" "0" "1290" "0" "c.1290del" "r.(?)" "p.(Ser431Argfs*71)" "4" "0000699214" "00020045" "33" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "4" "0000699215" "00020045" "77" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Met108Thr)" "2" "0000699216" "00020045" "77" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "3" "0000699217" "00020045" "73" "1088" "0" "1088" "0" "c.1088C>G" "r.(?)" "p.(Pro363Arg)" "4" "0000699218" "00020045" "99" "915" "0" "915" "0" "c.915del" "r.(?)" "p.(His306Thrfs*5)" "4" "0000699219" "00020045" "99" "1107" "0" "1108" "0" "c.1107_1108ins[GCT;1092_1107]" "r.(?)" "p.(Thr370Alafs*38)" "4" "0000728160" "00020045" "50" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "" "0000728161" "00020045" "90" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Gln377*)" "" "0000728162" "00020045" "50" "1093" "0" "1093" "0" "c.1093G>C" "r.(?)" "p.(Gly365Arg)" "" "0000728163" "00020045" "50" "1000" "0" "1000" "0" "c.1000A>C" "r.(?)" "p.(Ile334Leu)" "" "0000728164" "00020045" "30" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Pro228=)" "" "0000728165" "00020045" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204*)" "" "0000728166" "00020045" "30" "-10" "0" "-4" "0" "c.-10_-4del" "r.(?)" "p.(=)" "" "0000787590" "00020045" "50" "698" "0" "698" "0" "c.698G>C" "r.(?)" "p.(Gly233Ala)" "4" "0000791037" "00020045" "90" "119" "0" "119" "0" "c.119C>A" "r.(?)" "p.(Ser40*)" "" "0000794890" "00020045" "70" "698" "-1" "1402" "0" "c.(697+1_698-1)_(*1_?)del" "r.?" "p.?" "" "0000795505" "00020045" "90" "44" "0" "62" "0" "c.44_62del" "r.(?)" "p.(Val15Alafs*11)" "" "0000796580" "00020045" "70" "12" "0" "13" "0" "c.12_13delinsAT" "r.(?)" "p.(Gln5*)" "" "0000796582" "00020045" "70" "12" "0" "13" "0" "c.12_13delinsAT" "r.(?)" "p.(Gln5*)" "" "0000796584" "00020045" "70" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Lys150Glu)" "" "0000809627" "00020045" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Asn275=)" "" "0000809628" "00020045" "90" "327" "0" "327" "0" "c.327C>G" "r.(?)" "p.(Asn109Lys)" "" "0000838395" "00020045" "70" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Trp)" "" "0000839717" "00020045" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Gln364*)" "" "0000846663" "00020045" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "" "0000856168" "00020045" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Pro410=)" "" "0000856169" "00020045" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000866850" "00020045" "50" "1284" "0" "1284" "0" "c.1284G>T" "r.(?)" "p.(Met428Ile)" "" "0000866851" "00020045" "50" "1241" "0" "1241" "0" "c.1241A>C" "r.(?)" "p.(His414Pro)" "" "0000866852" "00020045" "50" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Ile395Val)" "" "0000876608" "00020045" "70" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Met112Ile)" "" "0000876612" "00020045" "90" "544" "0" "557" "0" "c.544_557del" "r.(?)" "p.(Lys182Argfs*94)" "" "0000876613" "00020045" "90" "762" "0" "762" "0" "c.762del" "r.(?)" "p.(Asp255Thrfs*31)" "" "0000877318" "00020045" "90" "707" "0" "714" "0" "c.707_714del" "r.(?)" "p.(His236Profs*42)" "" "0000895738" "00020045" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Asp272Asn)" "" "0000895739" "00020045" "30" "660" "0" "660" "0" "c.660C>G" "r.(?)" "p.(Gly220=)" "" "0000895740" "00020045" "90" "565" "0" "565" "0" "c.565G>T" "r.(?)" "p.(Glu189*)" "" "0000895741" "00020045" "70" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Met108Val)" "" "0000895742" "00020045" "30" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Tyr83=)" "" "0000915549" "00020045" "90" "1195" "0" "1196" "0" "c.1195_1196del" "r.(?)" "p.(Gln399Valfs*2)" "" "0000915550" "00020045" "90" "1077" "0" "1078" "0" "c.1077_1078del" "r.(?)" "p.(Glu359Aspfs*42)" "" "0000916861" "00020045" "70" "429" "-1" "429" "-1" "c.429-1G>C" "r.spl" "p.?" "2i" "0000927174" "00020045" "90" "1085" "0" "1103" "0" "c.1085_1103del" "r.(?)" "p.(Gly362Alafs*134)" "" "0000927175" "00020045" "70" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Gly139Ser)" "" "0000931298" "00020045" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Thr437Met)" "" "0000960259" "00020045" "70" "341" "0" "341" "0" "c.341G>C" "r.(?)" "p.(Trp114Ser)" "" "0000970487" "00020045" "50" "719" "0" "719" "0" "c.719C>A" "r.(?)" "p.(Thr240Asn)" "" "0000970488" "00020045" "10" "122" "0" "122" "0" "c.122G>T" "r.(?)" "p.(Gly41Val)" "" "0000984224" "00020045" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Val113Met)" "" "0000984225" "00020045" "50" "256" "0" "256" "0" "c.256A>G" "r.(?)" "p.(Thr86Ala)" "" "0000984226" "00020045" "30" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(Gly82=)" "" "0000984227" "00020045" "30" "131" "0" "131" "0" "c.131C>G" "r.(?)" "p.(Ala44Gly)" "" "0000984228" "00020045" "30" "114" "0" "116" "0" "c.114_116dup" "r.(?)" "p.(Gly39dup)" "" "0001006060" "00020045" "90" "698" "-52" "698" "-42" "c.698-52_698-42del" "r.(=)" "p.(=)" "" "0001006061" "00020045" "50" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Ala201Pro)" "" "0001006062" "00020045" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Ser)" "" "0001006063" "00020045" "30" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Ala184Thr)" "" "0001006064" "00020045" "90" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Met112Thr)" "" "0001006065" "00020045" "30" "122" "0" "122" "0" "c.122G>T" "r.(?)" "p.(Gly41Val)" "" "0001012275" "00020045" "70" "492" "0" "492" "0" "c.492C>A" "r.(?)" "p.(His164Gln)" "" "0001015944" "00020045" "10" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(=)" "" "0001017845" "00020045" "70" "506" "0" "506" "0" "c.506C>T" "r.(?)" "p.(Pro169Leu)" "3" "0001017875" "00020045" "70" "506" "0" "506" "0" "c.506C>T" "r.(?)" "p.(Pro169Leu)" "" "0001017876" "00020045" "90" "1125" "0" "1125" "0" "c.1125dup" "r.(?)" "p.(Ser376Leufs*26)" "" "0001017877" "00020045" "10" "698" "-58" "698" "-48" "c.698-58_698-48del" "r.(=)" "p.(=)" "4i" "0001043858" "00020045" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0001043859" "00020045" "30" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Pro245=)" "" "0001043860" "00020045" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Ser)" "" "0001043861" "00020045" "50" "-227" "0" "-227" "0" "c.-227C>T" "r.(?)" "p.(=)" "" "0001044905" "00020045" "90" "314" "0" "315" "0" "c.314_315del" "r,(?)" "p.(Lys105ThrfsTer28)" "" "0001059200" "00020045" "90" "249" "0" "249" "0" "c.249C>G" "r.(?)" "p.(Tyr83Ter)" "" "0001067518" "00020045" "30" "428" "44" "428" "44" "c.428+44G>A" "r.(=)" "p.(=)" "" "0001070242" "00020045" "70" "99" "0" "99" "0" "c.99del" "r.(?)" "p.(Asp34ThrfsTer75)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 144 "{{screeningid}}" "{{variantid}}" "0000080087" "0000128966" "0000080137" "0000129046" "0000286667" "0000642409" "0000286673" "0000642415" "0000286679" "0000642421" "0000286680" "0000642422" "0000286685" "0000642427" "0000286689" "0000642431" "0000286694" "0000642436" "0000286695" "0000642437" "0000286697" "0000642439" "0000286699" "0000642441" "0000286700" "0000642442" "0000286703" "0000642445" "0000286704" "0000642446" "0000286705" "0000642447" "0000286709" "0000642451" "0000286710" "0000642452" "0000286712" "0000642454" "0000286714" "0000642456" "0000286720" "0000642462" "0000286722" "0000642464" "0000286723" "0000642465" "0000286732" "0000642474" "0000286733" "0000642475" "0000286734" "0000642476" "0000286735" "0000642477" "0000286736" "0000642478" "0000286737" "0000642479" "0000286739" "0000642481" "0000286744" "0000642486" "0000286745" "0000642487" "0000297087" "0000659700" "0000297127" "0000659744" "0000311017" "0000686167" "0000316951" "0000699132" "0000316952" "0000699133" "0000316953" "0000699134" "0000316954" "0000699135" "0000316955" "0000699136" "0000316956" "0000699137" "0000316957" "0000699138" "0000316958" "0000699139" "0000316959" "0000699140" "0000316960" "0000699141" "0000316961" "0000699142" "0000316962" "0000699143" "0000316963" "0000699144" "0000316964" "0000699145" "0000316965" "0000699146" "0000316966" "0000699147" "0000316967" "0000699148" "0000316968" "0000699149" "0000316969" "0000699150" "0000316970" "0000699151" "0000316971" "0000699152" "0000316972" "0000699153" "0000316973" "0000699154" "0000316974" "0000699155" "0000316975" "0000699156" "0000316976" "0000699157" "0000316977" "0000699158" "0000316978" "0000699159" "0000316979" "0000699160" "0000316980" "0000699161" "0000316981" "0000699162" "0000316982" "0000699163" "0000316983" "0000699164" "0000316984" "0000699165" "0000316985" "0000699166" "0000316986" "0000699167" "0000316987" "0000699168" "0000316988" "0000699169" "0000316989" "0000699170" "0000316990" "0000699171" "0000316991" "0000699172" "0000316992" "0000699173" "0000316993" "0000699174" "0000316994" "0000699175" "0000316995" "0000699176" "0000316996" "0000699177" "0000316997" "0000699178" "0000316998" "0000699179" "0000316999" "0000699180" "0000317000" "0000699181" "0000317001" "0000699182" "0000317002" "0000699183" "0000317003" "0000699184" "0000317004" "0000699185" "0000317005" "0000699186" "0000317006" "0000699187" "0000317007" "0000699188" "0000317007" "0000699189" "0000317008" "0000699190" "0000317009" "0000699191" "0000317010" "0000699192" "0000317011" "0000699193" "0000317012" "0000699194" "0000317013" "0000699195" "0000317014" "0000699196" "0000317015" "0000699197" "0000317016" "0000699198" "0000317017" "0000699199" "0000317018" "0000699200" "0000317019" "0000699201" "0000317020" "0000699202" "0000317021" "0000699203" "0000317022" "0000699204" "0000317023" "0000699205" "0000317024" "0000699206" "0000317025" "0000699207" "0000317026" "0000699208" "0000317027" "0000699209" "0000317028" "0000699210" "0000317029" "0000699211" "0000317030" "0000699212" "0000317031" "0000699213" "0000317032" "0000699214" "0000317033" "0000699215" "0000317034" "0000699216" "0000317035" "0000699217" "0000317036" "0000699218" "0000317037" "0000699219" "0000375917" "0000787590" "0000378316" "0000791037" "0000381429" "0000794890" "0000381930" "0000795505" "0000382742" "0000796580" "0000382743" "0000796582" "0000382744" "0000796584" "0000404121" "0000839717" "0000409490" "0000846663" "0000417093" "0000876608" "0000417096" "0000876612" "0000417097" "0000876613" "0000417599" "0000877318" "0000431641" "0000916861" "0000449776" "0000960259" "0000459731" "0001017845" "0000459757" "0001017875" "0000459758" "0001017876" "0000459759" "0001017877" "0000467136" "0001044905" "0000471078" "0001059200"