### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POU3F4) # 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}}" "POU3F4" "POU class 3 homeobox 4" "X" "q21.1" "unknown" "NG_009936.2" "UD_132085239194" "" "http://www.LOVD.nl/POU3F4" "" "1" "9217" "5456" "300039" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/POU3F4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2016-03-23 08:48:25" "00006" "2025-10-21 14:03:48" ## 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}}" "00024114" "POU3F4" "POU class 3 homeobox 4" "001" "NM_000307.4" "" "NP_000298.3" "" "" "" "-64" "1443" "1086" "82763269" "82764775" "00006" "2016-03-23 08:46:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04622" "DFNX2" "deafness, X-linked, type 2 (DFNX-2)" "XLR" "304400" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "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" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05285" "DFNX" "deafness, X-linked (DFNX)" "" "" "" "" "" "00006" "2017-06-19 14:08:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "POU3F4" "04622" ## Individuals ## Do not remove or alter this header ## ## Count = 119 "{{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}}" "00060263" "" "" "" "1" "" "01542" "{PMID:Parzefall 2013:23606368}, {DOI:Parzefall 2013:10.1002/humu.22339}" "Congenital, profound HL; Mondini" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00114816" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114817" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114818" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114819" "" "" "" "1" "" "00000" "{PMID:de Kok 1995:7839145}" "" "" "" "" "" "0" "" "" "" "PatDP20" "00114820" "" "" "" "1" "" "00000" "{PMID:de Kok 1995:7839145}" "" "M" "" "" "" "0" "" "" "" "PatXL45" "00114821" "" "" "" "1" "" "01990" "" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00114822" "" "" "" "1" "" "01990" "" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00114823" "" "" "" "5" "" "00000" "" "4-generation family, 5 affected males" "M" "" "" "" "0" "" "" "" "" "00114824" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114825" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114826" "" "" "" "1" "" "00000" "" "" "" "" "France" "" "0" "" "" "" "" "00114827" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114828" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114829" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114830" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114831" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114832" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114833" "" "" "" "2" "" "00000" "" "2-generation family, 2 affected brothers" "M" "" "Finland" "" "0" "" "" "" "" "00114834" "" "" "" "3" "" "00000" "" "4-generation family, 3 affecteds; mother germline mosaic" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00114835" "" "" "" "1" "" "00000" "{PMID:de Kok 1995:07839145}" "" "M" "" "" "" "0" "" "" "" "Pat5823" "00114837" "" "" "" "1" "" "00000" "{PMID:de Kok 1995:07839145}" "" "M" "" "" "" "0" "" "" "" "Pat3105" "00114838" "" "" "" "1" "" "00000" "{PMID:de Kok 1995:07839145}" "" "M" "" "" "" "0" "" "" "" "Pat3055" "00114839" "" "" "" "1" "" "00000" "{PMID:de Kok 1995:07839145}" "" "M" "" "" "" "0" "" "" "" "Pat5736" "00114840" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114841" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114842" "" "" "" "1" "" "00000" "" "" "M" "?" "" "" "0" "" "" "" "" "00114843" "" "" "" "1" "" "00000" "{PMID:de Kok 1997:9298820}" "" "M" "no" "" "" "0" "" "" "" "Pat1185" "00114844" "" "" "" "1" "" "00000" "" "" "" "" "Japan" "" "0" "" "" "" "" "00114845" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114846" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114847" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114848" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114849" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114850" "" "" "" "2" "" "00000" "" "3-generation family, 2 affected males" "M" "" "Korea" "" "0" "" "" "" "" "00114851" "" "" "" "2" "" "00000" "" "3-generation family, 2 affected brothers" "M" "" "Korea" "" "0" "" "" "" "" "00114852" "" "" "" "5" "" "00000" "{PMID:Lee 2009:19671658}" "4-generation family, 5 affected males" "M" "" "Korea" "" "0" "" "" "" "FamSV08-17" "00114853" "" "" "" "2" "" "00000" "{PMID:Lee 2009:19671658}" "3-generation family, 2 affected males" "M" "" "Korea" "" "0" "" "" "" "FamSV08-21" "00114854" "" "" "" "5" "" "00000" "{PMID:Lee 2009:19671658}" "4-generation family, 5 affected males" "M" "" "Korea" "" "0" "" "" "" "FamSV08-18" "00114855" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114856" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114857" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114858" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114859" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114860" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114861" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114862" "" "" "" "4" "" "00000" "" "4-generation family, 4 unaffected carrier females" "M" "" "" "" "0" "" "" "" "" "00114863" "" "" "" "1" "" "00000" "" "2-generation family, unaffected carrier mother" "M" "" "Finland" "" "0" "" "" "" "" "00114864" "" "" "" "1" "" "00000" "" "4-generation family, unaffected carrier female; mother germline mosaic" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00114866" "" "" "" "1" "" "00000" "" "3-generation family, unaffected carrier female" "M" "" "Korea" "" "0" "" "" "" "" "00114867" "" "" "" "2" "" "00000" "" "3-generation family, unaffected carrier mother/grandmother" "M" "" "Korea" "" "0" "" "" "" "" "00114868" "" "" "" "2" "" "00000" "" "3-generation family, unaffected carrier mother/grandmother" "M" "" "Korea" "" "0" "" "" "" "" "00114869" "" "" "" "1" "" "00000" "" "3-generation family, unaffected carrier female" "M" "" "Korea" "" "0" "" "" "" "" "00114870" "" "" "" "2" "" "00000" "" "3-generation family, unaffected carrier mother/grandmother" "M" "" "Korea" "" "0" "" "" "" "" "00114871" "" "" "" "1" "" "00000" "" "3-generation family, unaffected carrier female" "M" "" "Korea" "" "0" "" "" "" "" "00114875" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377261-Pat?" "00114876" "" "" "" "1" "" "00741" "" "" "" "" "" "" "0" "" "" "" "" "00114877" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00114878" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377262-Pat?" "00285690" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285691" "" "" "" "1" "" "00004" "{PMID:Parzefall 2013:23606368}" "" "" "" "" "" "0" "" "" "" "" "00285692" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}, {PMID:Waryah 2011:21633365}" "" "" "" "" "" "0" "" "" "" "" "00285694" "" "" "" "1" "" "00004" "{PMID:Lee 2009:19438930}" "" "" "" "" "" "0" "" "" "" "" "00285695" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285696" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}, {PMID:Stankovic 2010:21250553}" "" "" "" "" "" "0" "" "" "" "" "00285697" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285698" "" "" "" "1" "" "00004" "{PMID:Choi 2015:24608376}" "" "" "" "" "" "0" "" "" "" "" "00285699" "" "" "" "1" "" "00004" "{PMID:Hagiwara 1998:9778298}" "" "" "" "" "" "0" "" "" "" "" "00285700" "" "" "" "8" "" "00004" "{PMID:Reardon 1991:1783396}, {PMID:de Kok 1995:7839145}" "5-generation family, 8 affected, 7 unaffected carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamPat5274" "00285702" "" "" "" "1" "" "00004" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "M" "" "Korea" "" "0" "" "" "" "SNUBH9-21;SB9" "00285704" "" "" "" "1" "" "00004" "{PMID:Yang 2013:23767834}" "" "" "" "" "" "0" "" "" "" "" "00285705" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285706" "" "" "" "1" "" "00004" "{PMID:Choi 2013:23076972}" "" "" "" "Korea" "" "0" "" "" "" "SB23-54" "00285707" "" "" "" "1" "" "00004" "{PMID:Friedman 1997:9109724}" "" "" "" "" "" "0" "" "" "" "" "00285708" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285709" "" "" "" "1" "" "00004" "{PMID:Moteki 2015:25792666}" "" "" "" "" "" "0" "" "" "" "" "00285710" "" "" "" "1" "" "00004" "{PMID:Bademci 2015:25928534}" "" "" "" "" "" "0" "" "" "" "" "00285711" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}, {PMID:Parzefall 2013:23606368}" "" "" "" "" "" "0" "" "" "" "" "00285712" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Bitner-Glindzicz 1995:7581392}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285714" "" "" "" "1" "" "00004" "{PMID:Bademci 2015:25928534}" "" "" "" "" "" "0" "" "" "" "" "00285715" "" "" "" "1" "" "00004" "{PMID:Park 2014:25373420}" "" "" "" "" "" "0" "" "" "" "" "00285716" "" "" "" "1" "" "00004" "{PMID:Bademci 2015:25928534}" "" "" "" "" "" "0" "" "" "" "" "00285717" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Bitner-Glindzicz 1995:7581392}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285718" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285720" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285724" "" "" "" "1" "" "00004" "{PMID:Friedman 1997:9109724}" "" "" "" "" "" "0" "" "" "" "" "00285727" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602} 1060, 354, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285728" "" "" "" "1" "" "00004" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "M" "" "Korea" "" "0" "" "" "" "SNUBH11-26;SB11" "00285729" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00306778" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" "00397390" "" "" "" "1" "" "00006" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "M" "" "Korea" "" "0" "" "" "" "SNUBH8-19;SB8" "00397391" "" "" "" "1" "" "00006" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "M" "" "Korea" "" "0" "" "" "" "SNUBH7-18;SB7" "00397392" "" "" "" "1" "" "00006" "{PMID:Choi 2013:23076972}" "" "M" "" "Korea" "" "0" "" "" "" "SB13-29" "00397393" "" "" "" "1" "" "00006" "{PMID:Choi 2013:23400403}" "" "M" "" "Korea" "" "0" "" "" "" "SNUH17-42" "00397402" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SB02-6" "00397403" "" "" "" "3" "" "00006" "{PMID:Choi 2013:23990876}" "family, 3 affected" "" "" "Korea" "" "0" "" "" "" "SB07-18" "00397404" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SB08-19" "00397405" "" "" "" "4" "" "00006" "{PMID:Choi 2013:23990876}" "family, 4 affected" "" "" "Korea" "" "0" "" "" "" "SB09-21" "00397406" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SB13-29" "00397414" "" "" "" "3" "" "00006" "{PMID:Arellano 2000:10979118}" "3-generation family, 3 affected" "" "" "Spain" "" "0" "" "" "" "family" "00397418" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "" "M" "" "China" "" "0" "" "" "" "4354" "00397419" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "" "M" "" "China" "" "0" "" "" "" "5517" "00397420" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "" "M" "" "China" "" "0" "" "" "" "12701" "00397421" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "" "M" "" "China" "" "0" "" "" "" "13276" "00397422" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "" "M" "" "China" "" "0" "" "" "" "M32" "00397423" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "" "M" "" "China" "" "0" "" "" "" "J0006" "00397424" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "J0012" "00397425" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:33860785}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "J0011" "00401636" "" "" "" "5" "" "00000" "{PMID:Mei 2021:33976695}" "5 males seggregating POU3F4 variant" "M" "yes" "Pakistan" "" "0" "" "" "Okara" "PK-DB-OKA-01PatIII10/IV5/6" "00402897" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" "00428325" "" "" "00401636" "2" "" "00006" "2 affected" "" "M" "yes" "Pakistan" "" "0" "" "" "Okara" "PK-DB-OKA-01PatIII17/IV4" "00441353" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF908" "00442611" "" "" "" "2" "" "00006" "{PMID:Chandrasekhar 2023:37929330}" "3-generation family, 2 affected maternal half-brothers, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "FamPatIII2" "00465447" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465448" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465449" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465450" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465991" "" "" "" "3" "" "04656" "" "" "" "" "Pakistan" "" "" "" "" "" "" "00467556" "" "" "" "5" "" "00006" "{DOI:Yang 2025:10.3389/fgene.2025.1641999}" "5-generation family, 5 affected (5M), unaffected carrier females" "M" "" "China" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 116 "{{individualid}}" "{{diseaseid}}" "00060263" "04622" "00114816" "05285" "00114817" "05285" "00114818" "05285" "00114819" "05285" "00114820" "05285" "00114821" "04622" "00114822" "04622" "00114823" "05285" "00114824" "05285" "00114825" "05285" "00114826" "05285" "00114827" "05285" "00114828" "05285" "00114829" "05285" "00114830" "05285" "00114831" "05285" "00114832" "05285" "00114833" "05285" "00114834" "05285" "00114835" "05285" "00114837" "05285" "00114838" "05285" "00114839" "05285" "00114840" "05285" "00114841" "05285" "00114842" "05285" "00114843" "05285" "00114844" "05285" "00114845" "05285" "00114846" "05285" "00114847" "05285" "00114848" "05285" "00114849" "05285" "00114850" "05285" "00114851" "05285" "00114852" "05285" "00114853" "05285" "00114854" "05285" "00114855" "05285" "00114856" "05285" "00114857" "05285" "00114858" "05285" "00114859" "05285" "00114860" "05285" "00114861" "05285" "00114862" "00198" "00114863" "00198" "00114864" "00198" "00114866" "00198" "00114867" "00198" "00114868" "00198" "00114869" "00198" "00114870" "00198" "00114871" "00198" "00114875" "00187" "00114876" "00198" "00114877" "00198" "00114878" "00187" "00285690" "05086" "00285691" "05103" "00285692" "05103" "00285694" "05103" "00285696" "05103" "00285698" "00198" "00285699" "05103" "00285700" "05103" "00285702" "05103" "00285704" "05103" "00285705" "05103" "00285706" "05103" "00285707" "05103" "00285708" "05103" "00285709" "05086" "00285710" "05103" "00285711" "05103" "00285712" "05103" "00285714" "05103" "00285715" "05086" "00285716" "05103" "00285717" "05103" "00285718" "05103" "00285724" "05103" "00285727" "05103" "00285728" "05103" "00285729" "05103" "00306778" "00198" "00397390" "05103" "00397391" "05103" "00397392" "05103" "00397393" "05086" "00397402" "05086" "00397403" "05086" "00397404" "05086" "00397405" "05086" "00397406" "05086" "00397414" "05086" "00397418" "05086" "00397419" "05086" "00397420" "05086" "00397421" "05086" "00397422" "05086" "00397423" "05086" "00397424" "05086" "00397425" "05086" "00401636" "05103" "00402897" "00198" "00428325" "05103" "00441353" "05086" "00442611" "05121" "00465447" "05086" "00465448" "05086" "00465449" "05086" "00465450" "05086" "00465991" "05285" "00467556" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 04622, 05086, 05103, 05121, 05285 ## Count = 114 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000046752" "04622" "00060263" "01542" "Familial, X-linked recessive" "" "" "" "" "" "Congenital" "" "" "" "" "" "" "" "" "0000090298" "05285" "00114816" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090299" "05285" "00114817" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090300" "05285" "00114818" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked (DFN-3)" "" "" "" "" "" "" "" "" "" "" "" "" "0000090301" "05285" "00114819" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked (DFN-3); MR; choroideremia( CH)M" "" "" "" "" "" "" "" "" "" "" "" "" "0000090302" "05285" "00114820" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked (DFN-3); MR; choroideremia( CH)M" "" "" "" "" "" "" "" "" "" "" "" "" "0000090303" "04622" "00114821" "01990" "Isolated (sporadic)" "" "DFNX2; Hearing_loss" "" "" "" "" "" "" "" "" "" "" "" "" "0000090304" "04622" "00114822" "01990" "Familial, X-linked recessive" "" "DFNX2; Hearing_loss" "" "" "" "" "" "" "" "" "" "" "" "" "0000090305" "05285" "00114823" "00000" "Familial, X-linked recessive" "" "deafness, sensorineural, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090306" "05285" "00114824" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090307" "05285" "00114825" "00000" "Isolated (sporadic)" "" "deafness, sensorineural, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090308" "05285" "00114826" "00000" "Isolated (sporadic)" "" "deafness, sensorineural, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090309" "05285" "00114827" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090310" "05285" "00114828" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090311" "05285" "00114829" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090312" "05285" "00114830" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090313" "05285" "00114831" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090314" "05285" "00114832" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090315" "05285" "00114833" "00000" "Familial, X-linked recessive" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090316" "05285" "00114834" "00000" "Familial, X-linked recessive" "" "deafness, sensorineural, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090317" "05285" "00114835" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090319" "05285" "00114837" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090320" "05285" "00114838" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090321" "05285" "00114839" "00000" "Isolated (sporadic)" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090322" "05285" "00114840" "00000" "Unknown" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090323" "05285" "00114841" "00000" "Unknown" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090324" "05285" "00114842" "00000" "Isolated (sporadic)" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090325" "05285" "00114843" "00000" "Isolated (sporadic)" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090326" "05285" "00114844" "00000" "Unknown" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090327" "05285" "00114845" "00000" "Unknown" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090328" "05285" "00114846" "00000" "Unknown" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090329" "05285" "00114847" "00000" "Unknown" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090330" "05285" "00114848" "00000" "Unknown" "" "deafness, mixed, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090331" "05285" "00114849" "00000" "Unknown" "" "deafness, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090332" "05285" "00114850" "00000" "Familial, X-linked recessive" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090333" "05285" "00114851" "00000" "Familial, X-linked recessive" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090334" "05285" "00114852" "00000" "Familial, X-linked recessive" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090335" "05285" "00114853" "00000" "Familial, X-linked recessive" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090336" "05285" "00114854" "00000" "Familial, X-linked recessive" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090337" "05285" "00114855" "00000" "Unknown" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090338" "05285" "00114856" "00000" "Unknown" "" "DFN3" "" "" "" "" "" "" "" "" "" "" "" "" "0000090339" "05285" "00114857" "00000" "Unknown" "" "hearing loss, X-linked, nonsyndromic" "" "" "" "" "" "" "" "" "" "" "" "" "0000090340" "05285" "00114858" "00000" "Unknown" "" "deafness, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090341" "05285" "00114859" "00000" "Unknown" "" "deafness, sensorineural, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090342" "05285" "00114860" "00000" "Unknown" "" "deafness, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090343" "05285" "00114861" "00000" "Unknown" "" "deafness, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000090344" "00198" "00114862" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090345" "00198" "00114863" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090346" "00198" "00114864" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090348" "00198" "00114866" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090349" "00198" "00114867" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090350" "00198" "00114868" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090351" "00198" "00114869" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090352" "00198" "00114870" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090353" "00198" "00114871" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090357" "00187" "00114875" "00124" "Familial, X-linked recessive" "" "MRX; details are available upon request; contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "" "" "" "" "" "" "" "" "0000090358" "00198" "00114876" "00741" "Unknown" "" "incomplete partition type III anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "0000090359" "00198" "00114877" "00000" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000090360" "00187" "00114878" "00124" "Familial, X-linked recessive" "" "MRX; details are available upon request; contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "" "" "" "" "" "" "" "" "0000217306" "00198" "00285698" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Incomplete partition type III" "" "0000218328" "05086" "00285690" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218329" "05086" "00285709" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, X-linked" "" "0000218330" "05086" "00285715" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218706" "05103" "00285691" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218707" "05103" "00285692" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218709" "05103" "00285694" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218710" "05103" "00285696" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218711" "05103" "00285699" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked, mixed" "" "0000218712" "05103" "00285700" "00008" "Familial, X-linked recessive" "" "deafness, X-linked, mixed" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218714" "05103" "00285702" "00008" "Familial, X-linked recessive" "" "microtia ; microdontia; conductive hearing loss in DFNX2, IP type III" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218716" "05103" "00285704" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000218717" "05103" "00285705" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, X-linked" "" "0000218718" "05103" "00285706" "00008" "Familial, X-linked recessive" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218719" "05103" "00285707" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked, mixed" "" "0000218720" "05103" "00285708" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, X-linked" "" "0000218721" "05103" "00285710" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218722" "05103" "00285711" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218723" "05103" "00285712" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked, mixed" "" "0000218725" "05103" "00285714" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218726" "05103" "00285716" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218727" "05103" "00285717" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked, mixed" "" "0000218728" "05103" "00285718" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218731" "05103" "00285724" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked, mixed" "" "0000218734" "05103" "00285727" "00008" "Unknown" "" "microtia ; microdontia" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218735" "05103" "00285728" "00008" "Familial, X-linked recessive" "" "microtia ; microdontia; conductive hearing loss in DFNX2, IP type III" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218736" "05103" "00285729" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, X-linked" "" "0000232606" "00198" "00306778" "02551" "Unknown" "" "Sensorineural hearing impairment (HP:0000407)" "" "" "" "" "" "" "" "" "" "" "" "" "0000290529" "05103" "00397390" "00006" "Familial, X-linked recessive" "" "conductive hearing loss in DFNX2, IP type III" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000290530" "05103" "00397391" "00006" "Familial, X-linked recessive" "" "conductive hearing loss in DFNX2, IP type III" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000290531" "05103" "00397392" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000290540" "05086" "00397402" "00006" "Familial, X-linked recessive" "" "Incomplete partition type III" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290541" "05086" "00397403" "00006" "Familial, X-linked recessive" "" "Incomplete partition type III" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290542" "05086" "00397404" "00006" "Familial, X-linked recessive" "" "Incomplete partition type III" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290543" "05086" "00397405" "00006" "Familial, X-linked recessive" "" "Incomplete partition type III" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290544" "05086" "00397406" "00006" "Familial, X-linked recessive" "" "Incomplete partition type III" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290552" "05086" "00397418" "00006" "Familial, X-linked recessive" "1y" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "sensorineural hearing loss" "" "0000290553" "05086" "00397419" "00006" "Familial, X-linked recessive" "3y" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "mixed hearing loss" "" "0000290554" "05086" "00397420" "00006" "Unknown" "1y" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "sensorineural hearing loss" "" "0000290555" "05086" "00397421" "00006" "Unknown" "2y" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "hearing loss" "" "0000290556" "05086" "00397422" "00006" "Familial, X-linked recessive" "5m" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "hearing loss" "" "0000290557" "05086" "00397423" "00006" "Familial, X-linked recessive" "6m" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "sensorineural hearing loss" "" "0000290558" "05086" "00397424" "00006" "Familial, X-linked recessive" "11y" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "sensorineural hearing loss" "" "0000290559" "05086" "00397425" "00006" "Familial, X-linked recessive" "2y" "see paper; ..." "" "" "" "" "" "" "" "" "" "DFNX2" "sensorineural hearing loss" "" "0000295648" "00198" "00402897" "02551" "Unknown" "" "Hearing impairment (HP:0000365); Incomplete partition of the cochlea (HP:0011373)" "" "" "" "" "" "" "" "" "" "" "" "" "0000319231" "05103" "00401636" "00006" "Familial, autosomal recessive" "" "hearing loss" "" "" "" "" "" "" "" "" "" "DFNX2" "hearing loss" "" "0000319232" "05103" "00428325" "00006" "Familial, X-linked recessive" "" "hearing loss" "" "" "" "" "" "" "" "" "" "DFNX2" "hearing loss" "" "0000330793" "05086" "00441353" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331958" "05121" "00442611" "00006" "Familial, X-linked recessive" "10y" "see paper; ..., muscular dystrophy, autism spectrum disorder, diastolic dysfunction, developmental delay, seizures, sensorineural hearing loss; 11m-developmental delay, motor delay" "00y03m" "" "" "" "" "" "" "" "" "DMD;DFNX2" "muscular dystrophy" "" "0000350995" "05086" "00465447" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000350996" "05086" "00465448" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000350997" "05086" "00465449" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000350998" "05086" "00465450" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351379" "05285" "00465991" "04656" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Hearing Loss" "" "0000352763" "05086" "00467556" "00006" "Familial, X-linked recessive" "" "see paper; ..., profound bilateral mixed hearing loss" "" "" "" "" "" "" "" "" "" "DFNX2" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 119 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000060249" "00060263" "1" "01542" "01542" "2016-03-23 08:09:34" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000115273" "00114816" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "PCR;Southern" "DNA" "" "" "0000115274" "00114817" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "PCR;Southern" "DNA" "" "" "0000115275" "00114818" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "PCR;Southern" "DNA" "" "" "0000115276" "00114819" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "PCR;Southern" "DNA" "" "" "0000115277" "00114820" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "PCR;Southern" "DNA" "" "" "0000115278" "00114821" "1" "01990" "01990" "2013-03-27 19:09:43" "00006" "2013-03-29 11:56:21" "SEQ" "DNA" "" "" "0000115279" "00114822" "1" "01990" "01990" "2013-03-27 19:37:45" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115280" "00114823" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115281" "00114824" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115282" "00114825" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115283" "00114826" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115284" "00114827" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115285" "00114828" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115286" "00114829" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115287" "00114830" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115288" "00114831" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115289" "00114832" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115290" "00114833" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115291" "00114834" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115292" "00114835" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115294" "00114837" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115295" "00114838" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115296" "00114839" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115297" "00114840" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115298" "00114841" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115299" "00114842" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115300" "00114843" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115301" "00114844" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115302" "00114845" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115303" "00114846" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115304" "00114847" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115305" "00114848" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115306" "00114849" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115307" "00114850" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115308" "00114851" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115309" "00114852" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115310" "00114853" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115311" "00114854" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115312" "00114855" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115313" "00114856" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115314" "00114857" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115315" "00114858" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115316" "00114859" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115317" "00114860" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115318" "00114861" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115319" "00114862" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115320" "00114863" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115321" "00114864" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115323" "00114866" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115324" "00114867" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115325" "00114868" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115326" "00114869" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115327" "00114870" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115328" "00114871" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115332" "00114875" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2012-08-31 11:28:41" "SEQ" "DNA" "" "" "0000115333" "00114876" "1" "00741" "00741" "2012-08-22 09:11:00" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115334" "00114877" "1" "00000" "00006" "2013-03-29 18:32:26" "00006" "2017-08-07 12:54:15" "SEQ" "DNA" "" "" "0000115335" "00114878" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2012-08-31 11:29:03" "SEQ" "DNA" "" "" "0000286840" "00285690" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286841" "00285691" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286842" "00285692" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286844" "00285694" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286845" "00285695" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286846" "00285696" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286847" "00285697" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286848" "00285698" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286849" "00285699" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286850" "00285700" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286852" "00285702" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286854" "00285704" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286855" "00285705" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286856" "00285706" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286857" "00285707" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286858" "00285708" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286859" "00285709" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286860" "00285710" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286861" "00285711" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286862" "00285712" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286864" "00285714" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286865" "00285715" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286866" "00285716" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286867" "00285717" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286868" "00285718" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286870" "00285720" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286874" "00285724" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286877" "00285727" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286878" "00285728" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286879" "00285729" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000307914" "00306778" "1" "02551" "02551" "2020-07-20 10:36:01" "" "" "SEQ" "DNA" "" "" "0000398630" "00397390" "1" "00006" "00006" "2021-12-20 19:15:09" "" "" "?" "DNA" "" "" "0000398631" "00397391" "1" "00006" "00006" "2021-12-20 19:20:31" "" "" "?" "DNA" "" "" "0000398632" "00397392" "1" "00006" "00006" "2021-12-20 19:30:50" "" "" "?" "DNA" "" "" "0000398633" "00397393" "1" "00006" "00006" "2021-12-20 19:36:33" "" "" "arrayCGH" "DNA" "" "" "0000398642" "00397402" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398643" "00397403" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398644" "00397404" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398645" "00397405" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398646" "00397406" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398654" "00397414" "1" "00006" "00006" "2021-12-20 23:15:37" "" "" "PCR" "DNA" "" "" "0000398656" "00397418" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ" "DNA" "" "" "0000398657" "00397419" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ" "DNA" "" "" "0000398658" "00397420" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ" "DNA" "" "" "0000398659" "00397421" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ" "DNA" "" "" "0000398660" "00397422" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ" "DNA" "" "" "0000398661" "00397423" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ" "DNA" "" "" "0000398662" "00397424" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ;SEQ-ON" "DNA" "" "" "0000398663" "00397425" "1" "00006" "00006" "2021-12-21 08:55:05" "" "" "SEQ;SEQ-ON" "DNA" "" "" "0000402879" "00401636" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000404138" "00402897" "1" "02551" "02551" "2022-02-14 10:00:01" "" "" "SEQ" "DNA" "" "" "0000429736" "00428325" "1" "00006" "00006" "2022-12-31 17:03:47" "" "" "SEQ" "DNA" "" "" "0000442839" "00441353" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000444095" "00442611" "1" "00006" "00006" "2023-11-22 17:04:21" "" "" "microscope;SEQ;SEQ-NG" "DNA" "" "WGS" "0000467096" "00465447" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467097" "00465448" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467098" "00465449" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467099" "00465450" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467642" "00465991" "1" "04656" "04656" "2025-07-01 20:17:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000469220" "00467556" "1" "00006" "00006" "2025-10-21 12:12:42" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 110 "{{screeningid}}" "{{geneid}}" "0000115273" "POU3F4" "0000115274" "POU3F4" "0000115275" "POU3F4" "0000115276" "POU3F4" "0000115277" "POU3F4" "0000115278" "POU3F4" "0000115279" "POU3F4" "0000115280" "POU3F4" "0000115281" "POU3F4" "0000115282" "POU3F4" "0000115283" "POU3F4" "0000115284" "POU3F4" "0000115285" "POU3F4" "0000115286" "POU3F4" "0000115287" "POU3F4" "0000115288" "POU3F4" "0000115289" "POU3F4" "0000115290" "POU3F4" "0000115291" "POU3F4" "0000115292" "POU3F4" "0000115294" "POU3F4" "0000115295" "POU3F4" "0000115296" "POU3F4" "0000115297" "POU3F4" "0000115298" "POU3F4" "0000115299" "POU3F4" "0000115300" "POU3F4" "0000115301" "POU3F4" "0000115302" "POU3F4" "0000115303" "POU3F4" "0000115304" "POU3F4" "0000115305" "POU3F4" "0000115306" "POU3F4" "0000115307" "POU3F4" "0000115308" "POU3F4" "0000115309" "POU3F4" "0000115310" "POU3F4" "0000115311" "POU3F4" "0000115312" "POU3F4" "0000115313" "POU3F4" "0000115314" "POU3F4" "0000115315" "POU3F4" "0000115316" "POU3F4" "0000115317" "POU3F4" "0000115318" "POU3F4" "0000115319" "POU3F4" "0000115320" "POU3F4" "0000115321" "POU3F4" "0000115323" "POU3F4" "0000115324" "POU3F4" "0000115325" "POU3F4" "0000115326" "POU3F4" "0000115327" "POU3F4" "0000115328" "POU3F4" "0000115332" "POU3F4" "0000115333" "POU3F4" "0000115334" "POU3F4" "0000115335" "POU3F4" "0000286840" "POU3F4" "0000286841" "POU3F4" "0000286842" "POU3F4" "0000286844" "POU3F4" "0000286845" "POU3F4" "0000286846" "POU3F4" "0000286847" "POU3F4" "0000286848" "POU3F4" "0000286849" "POU3F4" "0000286850" "POU3F4" "0000286852" "POU3F4" "0000286854" "POU3F4" "0000286855" "POU3F4" "0000286856" "POU3F4" "0000286857" "POU3F4" "0000286858" "POU3F4" "0000286859" "POU3F4" "0000286860" "POU3F4" "0000286861" "POU3F4" "0000286862" "POU3F4" "0000286864" "POU3F4" "0000286865" "POU3F4" "0000286866" "POU3F4" "0000286867" "POU3F4" "0000286868" "POU3F4" "0000286870" "POU3F4" "0000286874" "POU3F4" "0000286877" "POU3F4" "0000286878" "POU3F4" "0000286879" "POU3F4" "0000398630" "POU3F4" "0000398631" "POU3F4" "0000398632" "POU3F4" "0000398633" "POU3F4" "0000398642" "POU3F4" "0000398643" "POU3F4" "0000398644" "POU3F4" "0000398645" "POU3F4" "0000398646" "POU3F4" "0000398654" "POU3F4" "0000398656" "POU3F4" "0000398657" "POU3F4" "0000398658" "POU3F4" "0000398659" "POU3F4" "0000398660" "POU3F4" "0000398661" "POU3F4" "0000398662" "POU3F4" "0000398663" "POU3F4" "0000402879" "POU3F4" "0000429736" "POU3F4" "0000444095" "DMD" "0000467642" "POU3F4" ## 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 = 154 "{{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}}" "0000091246" "21" "90" "X" "82763567" "82763567" "subst" "0" "01542" "POU3F4_000010" "g.82763567C>T" "1/218 unrelated cases" "{PMID:Parzefall 2013:23606368}, {DOI:Parzefall 2013:10.1002/humu.22339}" "" "Q79X" "0/260 hearing controls" "Germline" "yes" "" "0" "" "" "g.83508559C>T" "" "pathogenic" "" "0000184717" "1" "10" "X" "82764040" "82764040" "subst" "0.999994" "00000" "POU3F4_000003" "g.82764040A>G" "" "{PMID:Lee 2009:19438930}" "" "A708G" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509032A>G" "" "benign" "" "0000184718" "1" "10" "X" "82764040" "82764040" "subst" "0.999994" "00000" "POU3F4_000003" "g.82764040A>G" "" "{PMID:Lee 2009:19438930}" "" "A708G" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509032A>G" "" "benign" "" "0000184719" "1" "10" "X" "82764040" "82764040" "subst" "0.999994" "00000" "POU3F4_000003" "g.82764040A>G" "" "{PMID:Lee 2009:19438930}" "" "A708G" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509032A>G" "" "benign" "" "0000184720" "1" "10" "X" "82764040" "82764040" "subst" "0.999994" "00000" "POU3F4_000003" "g.82764040A>G" "" "{PMID:Lee 2009:19438930}" "" "A708G" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509032A>G" "" "benign" "" "0000184721" "1" "10" "X" "82764042" "82764042" "subst" "1" "00000" "POU3F4_000004" "g.82764042G>C" "" "{PMID:Lee 2009:19438930}" "" "G710C" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509034G>C" "" "benign" "" "0000184722" "1" "10" "X" "82764042" "82764042" "subst" "1" "00000" "POU3F4_000004" "g.82764042G>C" "" "{PMID:Lee 2009:19438930}" "" "G710C" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509034G>C" "" "benign" "" "0000184723" "1" "10" "X" "82764042" "82764042" "subst" "1" "00000" "POU3F4_000004" "g.82764042G>C" "" "{PMID:Lee 2009:19438930}" "" "G710C" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509034G>C" "" "benign" "" "0000184724" "1" "10" "X" "82764042" "82764042" "subst" "1" "00000" "POU3F4_000004" "g.82764042G>C" "" "{PMID:Lee 2009:19438930}" "" "G710C" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.83509034G>C" "" "benign" "" "0000184725" "0" "50" "X" "82764040" "82764040" "subst" "0.999994" "00000" "POU3F4_000003" "g.82764040A>G" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs5921978" "0" "" "" "g.83509032A>G" "" "VUS" "" "0000184726" "0" "50" "X" "82764042" "82764042" "subst" "1" "00000" "POU3F4_000004" "g.82764042G>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs5921979" "0" "" "" "g.83509034G>C" "" "VUS" "" "0000184727" "1" "50" "X" "82763803" "82763803" "subst" "0" "00124" "POU3F4_000001" "g.82763803C>T" "" "{PMID:Tarpey 2009:19377476}" "" "A157A" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.83508795C>T" "" "VUS" "" "0000184728" "1" "50" "X" "82764065" "82764065" "subst" "0" "00124" "POU3F4_000002" "g.82764065A>G" "" "{PMID:Tarpey 2009:19377476}" "" "M245V" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.83509057A>G" "" "VUS" "" "0000184729" "21" "70" "X" "82763964" "82763964" "subst" "0" "00741" "POU3F4_000008" "g.82763964C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83508956C>T" "" "likely pathogenic" "" "0000184730" "21" "70" "X" "82764018" "82764018" "subst" "0" "00741" "POU3F4_000007" "g.82764018A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83509010A>G" "" "likely pathogenic" "" "0000184731" "21" "70" "X" "82764282" "82764282" "dup" "0" "00741" "POU3F4_000006" "g.82764282dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83509274dup" "" "likely pathogenic" "" "0000184733" "21" "70" "X" "82764416" "82764416" "subst" "0" "00741" "POU3F4_000009" "g.82764416T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83509408T>C" "" "likely pathogenic" "" "0000184734" "1" "90" "X" "82763269" "82764774" "" "0" "00000" "POU3F4_000000" "g.(?_82763269)_(82764774_?)del" "" "{PMID:de Kok 1996:08872461}" "" "" ">1.5Mb deletion starting >1250Kb upstream" "Unknown" "" "" "0" "" "" "g.(?_83508261)_(83509766_?)del" "" "pathogenic" "" "0000184735" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" ">1200Kb deletion 50Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184736" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" ">500Kb deletion 700Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184737" "1" "90" "X" "82763269" "82764774" "" "0" "00000" "POU3F4_000000" "g.(?_82763269)_(82764774_?)del" "" "{PMID:de Kok 1996:08872461}" "" "" ">600Kb deletion starting 350Kb upstream" "Unknown" "" "" "0" "" "" "g.(?_83508261)_(83509766_?)del" "" "pathogenic" "" "0000184738" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1995:08589693}" "" " " "150Kb duplication 170Kb upstream of POU3F4 and paracentric inversion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184739" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1995:08589693}" "" " " "150Kb duplication 170Kb upstream of POU3F4 and paracentric inversion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184740" "1" "90" "X" "82763269" "82764774" "" "0" "00000" "POU3F4_000000" "g.(?_82763269)_(82764774_?)del" "" "{PMID:de Kok 1996:08872461}" "" "" "1Mb deletion" "Unknown" "" "" "0" "" "" "g.(?_83508261)_(83509766_?)del" "" "pathogenic" "" "0000184741" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" "200Kb deletion 850Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184742" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" "200Kb deletion 900Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184743" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" "250Kb deletion 900Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184744" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" "30Kb 930 Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184745" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" "700Kb deletion 350Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184746" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" "deletions (2.6Kb, 6.5Kb, 7Kb, 4.4Kb) 950-800Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184747" "1" "90" "X" "0" "0" "" "0" "00000" "POU3F4_000000" "g.?" "" "{PMID:de Kok 1996:08872461}" "" "" "inversion and 850Kb deletion 50Kb upstream" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000184750" "1" "90" "X" "82763980" "82763980" "del" "0" "00000" "POU3F4_000019" "g.82763980del" "" "{PMID:de Kok 1995:07839145}" "" "651delG (D215X)" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.83508972del" "" "pathogenic" "" "0000184751" "1" "90" "X" "82764228" "82764228" "del" "0" "00000" "POU3F4_000020" "g.82764228del" "" "{PMID:de Kok 1995:07839145}" "" "895delA (L298X)" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.83509220del" "" "pathogenic" "" "0000184752" "1" "90" "X" "82764282" "82764282" "subst" "0" "00000" "POU3F4_000021" "g.82764282T>G" "" "{PMID:de Kok 1995:07839145}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.83509274T>G" "" "pathogenic" "" "0000184753" "1" "90" "X" "82764332" "82764332" "subst" "0" "00000" "POU3F4_000017" "g.82764332A>G" "" "{PMID:de Kok 1995:07839145}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.83509324A>G" "" "pathogenic" "" "0000184754" "1" "90" "X" "82764194" "82764197" "del" "0" "00000" "POU3F4_000015" "g.82764194_82764197del" "" "{PMID:Bitner-Glindzicz 1995:07581392}" "HphI-" "862_865delAGTG" "not in 80 control chromosomes" "Germline" "" "" "0" "" "" "g.83509186_83509189del" "" "pathogenic" "" "0000184755" "1" "90" "X" "82764194" "82764197" "del" "0" "00000" "POU3F4_000015" "g.82764194_82764197del" "" "{PMID:Bitner-Glindzicz 1995:07581392}" "HphI-" "862_865delAGTG" "not in 80 control chromosomes" "Germline" "" "" "0" "" "" "g.83509186_83509189del" "" "pathogenic" "" "0000184756" "1" "90" "X" "82764299" "82764299" "subst" "0" "00000" "POU3F4_000025" "g.82764299C>G" "" "{PMID:de Kok 1997:9298820}" "" "" "somatic mosaicism 50% in PBL" "De novo" "" "" "0" "" "" "g.83509291C>G" "" "pathogenic" "" "0000184757" "1" "90" "X" "82763269" "82764774" "del" "0" "00000" "POU3F4_000000" "g.(?_82763269)_(82764774_?)del" "" "{PMID:de Kok 1995:7839145}" "" "" "" "Unknown" "" "" "0" "" "" "g.(?_83508261)_(83509766_?)del" "" "pathogenic (recessive)" "" "0000184758" "1" "90" "X" "82763269" "82764774" "del" "0" "00000" "POU3F4_000000" "g.(?_82763269)_(82764774_?)del" "" "{PMID:de Kok 1995:7839145}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_83508261)_(83509766_?)del" "" "pathogenic (recessive)" "" "0000184759" "1" "90" "X" "82763532" "82763532" "subst" "0" "00000" "POU3F4_000027" "g.82763532G>A" "" "{PMID:Cremers 2000:10868234}" "" "" "" "Unknown" "" "" "0" "" "" "g.83508524G>A" "" "pathogenic" "" "0000184760" "1" "90" "X" "82763625" "82763625" "subst" "0" "00000" "POU3F4_000037" "g.82763625C>A" "" "{PMID:Marlin 2009:19930154}" "" "" "" "Unknown" "" "" "0" "" "" "g.83508617C>A" "" "pathogenic" "" "0000184761" "1" "90" "X" "82763673" "82763673" "subst" "0" "00000" "POU3F4_000042" "g.82763673G>A" "" "{PMID:Waryah 2011:21633365}" "" "" "" "Unknown" "" "" "0" "" "" "g.83508665G>A" "" "pathogenic" "" "0000184762" "21" "90" "X" "82763678" "82763678" "del" "0" "00000" "POU3F4_000034" "g.82763678del" "" "{PMID:Lee 2009:19671658}" "" "346delG" "" "Germline" "" "" "0" "" "" "g.83508670del" "" "pathogenic (recessive)" "" "0000184764" "1" "90" "X" "82763715" "82763715" "del" "0" "00000" "POU3F4_000032" "g.82763715del" "" "{PMID:Lee 2009:19438930}" "" "" "" "Germline" "" "" "0" "" "" "g.83508707del" "" "pathogenic" "" "0000184765" "1" "90" "X" "82763715" "82763715" "del" "0" "00000" "POU3F4_000032" "g.82763715del" "" "{PMID:Lee 2009:19438930}" "" "" "" "Germline" "" "" "0" "" "" "g.83508707del" "" "pathogenic" "" "0000184766" "1" "90" "X" "82763738" "82763738" "subst" "0" "00000" "POU3F4_000043" "g.82763738C>T" "" "{PMID:Waryah 2011:21633365}" "" "" "" "Unknown" "" "" "0" "" "" "g.83508730C>T" "" "pathogenic" "" "0000184767" "1" "90" "X" "82763831" "82763831" "subst" "0" "00000" "POU3F4_000040" "g.82763831C>T" "" "{PMID:Stankovic 2010:21250553}" "" "" "" "Unknown" "" "" "0" "" "" "g.83508823C>T" "" "pathogenic" "" "0000184768" "1" "90" "X" "82763933" "82763938" "del" "0" "00000" "POU3F4_000026" "g.82763933_82763938del" "" "{PMID:Hagiwara 1998:09778298}" "" "601_606delTTCAAA" "" "Unknown" "" "" "0" "" "" "g.83508925_83508930del" "" "pathogenic" "" "0000184769" "1" "90" "X" "82763955" "82763955" "subst" "0" "00000" "POU3F4_000033" "g.82763955T>A" "" "{PMID:Lee 2009:19438930}" "" "" "" "Germline" "" "" "0" "" "" "g.83508947T>A" "" "pathogenic" "" "0000184770" "1" "90" "X" "82763955" "82763955" "subst" "0" "00000" "POU3F4_000033" "g.82763955T>A" "" "{PMID:Lee 2009:19438930}" "" "" "" "Germline" "" "" "0" "" "" "g.83508947T>A" "" "pathogenic" "" "0000184771" "1" "90" "X" "82763979" "82763979" "subst" "0" "00000" "POU3F4_000039" "g.82763979G>A" "" "{PMID:Li 2010:21193157}" "" "" "" "Unknown" "" "" "0" "" "" "g.83508971G>A" "" "pathogenic" "" "0000184772" "1" "90" "X" "82764015" "82764015" "subst" "0" "00000" "POU3F4_000030" "g.82764015C>T" "" "{PMID:Vore 2005:16365218}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509007C>T" "" "pathogenic" "" "0000184773" "1" "90" "X" "82764021" "82764021" "subst" "0" "00000" "POU3F4_000022" "g.82764021C>T" "" "{PMID:Friedman 1997:09109724}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509013C>T" "" "pathogenic" "" "0000184774" "1" "90" "X" "82764239" "82764239" "subst" "0" "00000" "POU3F4_000028" "g.82764239C>T" "" "{PMID:Cremers 2000:10868234}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509231C>T" "" "pathogenic" "" "0000184775" "1" "90" "X" "82764255" "82764255" "subst" "0" "00000" "POU3F4_000038" "g.82764255T>A" "" "{PMID:Marlin 2009:19930154}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509247T>A" "" "pathogenic" "" "0000184776" "1" "90" "X" "82764257" "82764257" "subst" "0" "00000" "POU3F4_000031" "g.82764257T>C" "" "{PMID:Wang 2006:16735904}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509249T>C" "" "pathogenic" "" "0000184777" "21" "90" "X" "82764259" "82764261" "del" "0" "00000" "POU3F4_000035" "g.82764259_82764261del" "" "{PMID:Lee 2009:19671658}" "" "927_929delCTC" "" "Germline" "yes" "" "0" "" "" "g.83509251_83509253del" "" "pathogenic (recessive)" "" "0000184779" "1" "90" "X" "82764267" "82764267" "subst" "0" "00000" "POU3F4_000016" "g.82764267C>T" "" "{PMID:Bitner-Glindzicz 1995:07581392}" "AccI+" "" "" "De novo" "" "" "0" "" "" "g.83509259C>T" "" "pathogenic" "" "0000184780" "1" "90" "X" "82764267" "82764267" "subst" "0" "00000" "POU3F4_000016" "g.82764267C>T" "" "{PMID:Bitner-Glindzicz 1995:07581392}" "AccI+" "" "" "De novo" "" "" "0" "" "" "g.83509259C>T" "" "pathogenic" "" "0000184781" "1" "90" "X" "82764305" "82764305" "subst" "0" "00000" "POU3F4_000041" "g.82764305T>A" "" "{PMID:Schild 2011:21555964}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509297T>A" "" "pathogenic" "" "0000184782" "1" "90" "X" "82764315" "82764315" "subst" "0" "00000" "POU3F4_000029" "g.82764315A>C" "" "{PMID:Cremers 2000:10868234}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509307A>C" "" "pathogenic" "" "0000184783" "1" "90" "X" "82764317" "82764317" "subst" "0" "00000" "POU3F4_000023" "g.82764317C>G" "" "{PMID:Friedman 1997:09109724}" "" "" "" "Unknown" "" "" "0" "" "" "g.83509309C>G" "" "pathogenic" "" "0000184784" "21" "90" "X" "82764318" "82764318" "subst" "0" "00000" "POU3F4_000036" "g.82764318G>C" "" "{PMID:Lee 2009:19671658}" "" "" "" "Germline" "yes" "" "0" "" "" "g.83509310G>C" "" "pathogenic (recessive)" "" "0000184786" "1" "90" "X" "82764322" "82764322" "subst" "0" "00000" "POU3F4_000024" "g.82764322A>T" "" "{PMID:de Kok 1997:9298820}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.83509314A>T" "" "pathogenic (recessive)" "" "0000184787" "0" "90" "X" "82763567" "82763567" "subst" "0" "01990" "POU3F4_000010" "g.82763567C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.83508559C>T" "" "pathogenic" "" "0000184788" "0" "90" "X" "82764185" "82764186" "del" "0" "01990" "POU3F4_000013" "g.82764185_82764186del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83509177_83509178del" "" "pathogenic" "" "0000248741" "0" "10" "X" "82764040" "82764040" "subst" "0.999994" "02325" "POU3F4_000003" "g.82764040A>G" "" "" "" "POU3F4(NM_000307.5):c.708A>G (p.E236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83509032=" "" "benign" "" "0000297284" "0" "10" "X" "82764042" "82764042" "subst" "1" "02325" "POU3F4_000004" "g.82764042G>C" "" "" "" "POU3F4(NM_000307.4):c.710G>C (p.G237A), POU3F4(NM_000307.5):c.710G>C (p.G237A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83509034=" "" "benign" "" "0000306223" "0" "50" "X" "82763523" "82763523" "subst" "1.29067E-5" "01943" "POU3F4_000044" "g.82763523G>A" "" "" "" "POU3F4(NM_000307.4):c.191G>A (p.G64E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83508515G>A" "" "VUS" "" "0000306224" "0" "10" "X" "82764042" "82764042" "subst" "1" "01943" "POU3F4_000004" "g.82764042G>C" "" "" "" "POU3F4(NM_000307.4):c.710G>C (p.G237A), POU3F4(NM_000307.5):c.710G>C (p.G237A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83509034=" "" "benign" "" "0000334790" "0" "50" "X" "82763757" "82763757" "subst" "0" "01804" "POU3F4_000045" "g.82763757G>C" "" "" "" "POU3F4(NM_000307.3):c.425G>C (p.(Ser142Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83508749G>C" "" "VUS" "" "0000342526" "0" "70" "X" "82764177" "82764177" "subst" "0" "02327" "POU3F4_000047" "g.82764177G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83509169G>A" "" "likely pathogenic" "" "0000345272" "0" "50" "X" "82764038" "82764038" "subst" "0" "02327" "POU3F4_000046" "g.82764038G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83509030G>A" "" "VUS" "" "0000347533" "0" "70" "X" "82764332" "82764332" "subst" "0" "02327" "POU3F4_000017" "g.82764332A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83509324A>G" "" "likely pathogenic" "" "0000577650" "0" "50" "X" "82763435" "82763435" "subst" "0" "01943" "POU3F4_000048" "g.82763435C>A" "" "" "" "POU3F4(NM_000307.4):c.103C>A (p.Q35K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83508427C>A" "" "VUS" "" "0000577651" "0" "50" "X" "82763538" "82763538" "subst" "0" "01943" "POU3F4_000049" "g.82763538C>T" "" "" "" "POU3F4(NM_000307.4):c.206C>T (p.S69F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83508530C>T" "" "VUS" "" "0000577652" "0" "90" "X" "82763834" "82763834" "subst" "0" "02329" "POU3F4_000050" "g.82763834G>T" "" "" "" "POU3F4(NM_000307.5):c.502G>T (p.E168*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83508826G>T" "" "pathogenic" "" "0000577653" "0" "30" "X" "82764178" "82764178" "subst" "5.62917E-6" "01943" "POU3F4_000051" "g.82764178G>T" "" "" "" "POU3F4(NM_000307.4):c.846G>T (p.R282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83509170G>T" "" "likely benign" "" "0000577654" "0" "50" "X" "82764257" "82764257" "subst" "0" "02327" "POU3F4_000031" "g.82764257T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83509249T>C" "" "VUS" "" "0000577655" "0" "50" "X" "82764331" "82764331" "subst" "0" "01943" "POU3F4_000052" "g.82764331G>T" "" "" "" "POU3F4(NM_000307.4):c.999G>T (p.E333D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83509323G>T" "" "VUS" "" "0000619936" "0" "50" "X" "82764062" "82764062" "subst" "0" "01804" "POU3F4_000053" "g.82764062A>G" "" "" "" "POU3F4(NM_000307.3):c.730A>G (p.(Asn244Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83509054A>G" "" "VUS" "" "0000642582" "1" "99" "X" "82763533" "82763533" "subst" "0" "00004" "POU3F4_000054" "g.82763533G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508525G>A" "" "pathogenic" "" "0000642583" "1" "99" "X" "82763567" "82763567" "subst" "0" "00004" "POU3F4_000010" "g.82763567C>T" "" "{DB:DVD}, {PMID:Parzefall 2013:23606368}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508559C>T" "" "pathogenic" "" "0000642584" "1" "99" "X" "82763673" "82763673" "subst" "0" "00004" "POU3F4_000042" "g.82763673G>A" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}, {PMID:Waryah 2011:21633365}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508665G>A" "" "pathogenic" "" "0000642586" "1" "99" "X" "82763715" "82763715" "del" "0" "00004" "POU3F4_000056" "g.82763715del" "" "{DB:DVD}, {PMID:Lee 2009:19438930}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508707del" "" "pathogenic" "" "0000642587" "1" "55" "X" "82763815" "82763815" "subst" "0" "00004" "POU3F4_000057" "g.82763815C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508807C>A" "" "VUS" "" "0000642588" "1" "99" "X" "82763831" "82763831" "subst" "0" "00004" "POU3F4_000040" "g.82763831C>T" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}, {PMID:Stankovic 2010:21250553}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508823C>T" "" "pathogenic" "" "0000642589" "1" "55" "X" "82763838" "82763838" "subst" "0.000312041" "00004" "POU3F4_000058" "g.82763838C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508830C>T" "" "VUS" "" "0000642590" "1" "99" "X" "82763872" "82763872" "subst" "0" "00004" "POU3F4_000059" "g.82763872C>A" "" "{DB:DVD}, {PMID:Choi 2015:24608376}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508864C>A" "" "pathogenic" "" "0000642591" "1" "99" "X" "82763933" "82763938" "del" "0" "00004" "POU3F4_000026" "g.82763933_82763938del" "" "{DB:DVD}, {PMID:Hagiwara 1998:9778298}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508925_83508930del" "" "pathogenic" "" "0000642592" "21" "90" "X" "82763939" "82763942" "del" "0" "00004" "POU3F4_000060" "g.82763939_82763942del" "" "{PMID:de Kok 1995:7839145}" "" "603-610delCAAA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000642594" "1" "90" "X" "82763964" "82763964" "subst" "0" "00004" "POU3F4_000008" "g.82763964C>T" "" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "" "" "Germline" "" "" "0" "" "" "g.83508956C>T" "" "pathogenic (recessive)" "" "0000642596" "1" "99" "X" "82763980" "82763980" "dup" "0" "00004" "POU3F4_000062" "g.82763980dup" "" "{DB:DVD}, {PMID:Yang 2013:23767834}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508972dup" "" "pathogenic" "" "0000642597" "1" "55" "X" "82763984" "82763984" "del" "0" "00004" "POU3F4_000063" "g.82763984del" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83508976del" "" "VUS" "" "0000642598" "1" "90" "X" "82764018" "82764018" "subst" "0" "00004" "POU3F4_000007" "g.82764018A>G" "" "{PMID:Choi 2013:23076972}" "" "" "" "Germline" "" "" "0" "" "" "g.83509010A>G" "" "pathogenic (recessive)" "" "0000642599" "1" "99" "X" "82764021" "82764021" "subst" "0" "00004" "POU3F4_000022" "g.82764021C>T" "" "{DB:DVD}, {PMID:Friedman 1997:9109724}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509013C>T" "" "pathogenic" "" "0000642600" "1" "77" "X" "82764027" "82764027" "subst" "0" "00004" "POU3F4_000064" "g.82764027T>C" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509019T>C" "" "likely pathogenic" "" "0000642601" "1" "99" "X" "82764063" "82764063" "dup" "0" "00004" "POU3F4_000065" "g.82764063dup" "" "{DB:DVD}, {PMID:Moteki 2015:25792666}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509055dup" "" "pathogenic" "" "0000642602" "1" "99" "X" "82764104" "82764104" "del" "0" "00004" "POU3F4_000066" "g.82764104del" "" "{DB:DVD}, {PMID:Bademci 2015:25928534}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509096del" "" "pathogenic" "" "0000642603" "1" "99" "X" "82764185" "82764186" "del" "0" "00004" "POU3F4_000013" "g.82764185_82764186del" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}, {PMID:Parzefall 2013:23606368}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509177_83509178del" "" "pathogenic" "" "0000642604" "1" "99" "X" "82764194" "82764197" "del" "0" "00004" "POU3F4_000015" "g.82764194_82764197del" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Bitner-Glindzicz 1995:7581392}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509186_83509189del" "" "pathogenic" "" "0000642606" "1" "99" "X" "82764234" "82764234" "subst" "0" "00004" "POU3F4_000068" "g.82764234C>T" "" "{DB:DVD}, {PMID:Bademci 2015:25928534}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509226C>T" "" "pathogenic" "" "0000642607" "1" "99" "X" "82764240" "82764240" "subst" "0" "00004" "POU3F4_000069" "g.82764240C>A" "" "{DB:DVD}, {PMID:Park 2014:25373420}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509232C>A" "" "pathogenic" "" "0000642608" "1" "99" "X" "82764255" "82764255" "subst" "0" "00004" "POU3F4_000070" "g.82764255T>C" "" "{DB:DVD}, {PMID:Bademci 2015:25928534}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509247T>C" "" "pathogenic" "" "0000642609" "1" "99" "X" "82764267" "82764267" "subst" "0" "00004" "POU3F4_000016" "g.82764267C>T" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Bitner-Glindzicz 1995:7581392}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509259C>T" "" "pathogenic" "" "0000642610" "1" "99" "X" "82764282" "82764282" "dup" "0" "00004" "POU3F4_000071" "g.82764282dup" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509274dup" "" "pathogenic" "" "0000642612" "1" "55" "X" "82764296" "82764296" "subst" "0" "00004" "POU3F4_000072" "g.82764296G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509288G>A" "" "VUS" "" "0000642616" "1" "99" "X" "82764317" "82764317" "subst" "0" "00004" "POU3F4_000023" "g.82764317C>G" "" "{DB:DVD}, {PMID:Friedman 1997:9109724}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509309C>G" "" "pathogenic" "" "0000642619" "1" "90" "X" "82764392" "82764392" "del" "0" "00004" "POU3F4_000075" "g.82764392del" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Alford 2014:24651602} 1060, 354, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509384del" "" "pathogenic" "" "0000642620" "1" "90" "X" "82764416" "82764416" "subst" "0" "00004" "POU3F4_000009" "g.82764416T>C" "" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "" "" "Germline" "" "" "0" "" "" "g.83509408T>C" "" "pathogenic (recessive)" "" "0000642621" "1" "77" "X" "82764418" "82764421" "del" "0" "00004" "POU3F4_000076" "g.82764418_82764421del" "" "{DB:DVD}, {PMID:Smith 1993:20301449}, {PMID:Duzkale 2013:24033266}, {PMID:Alford 2014:24651602}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.83509410_83509413del" "" "likely pathogenic" "" "0000674735" "3" "70" "X" "82763559" "82763559" "del" "0" "02551" "POU3F4_000077" "g.82763559del" "" "" "" "227delT" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000693764" "0" "30" "X" "82763779" "82763779" "subst" "0" "01943" "POU3F4_000078" "g.82763779A>C" "" "" "" "POU3F4(NM_000307.4):c.447A>C (p.G149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729235" "0" "30" "X" "82763800" "82763800" "subst" "1.9174E-5" "01943" "POU3F4_000079" "g.82763800C>T" "" "" "" "POU3F4(NM_000307.4):c.468C>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729236" "0" "70" "X" "82764307" "82764307" "subst" "0" "02327" "POU3F4_000080" "g.82764307G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729237" "0" "70" "X" "82764418" "82764418" "subst" "0" "02327" "POU3F4_000081" "g.82764418A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810698" "0" "30" "X" "82763713" "82763713" "subst" "0" "01943" "POU3F4_000082" "g.82763713C>T" "" "" "" "POU3F4(NM_000307.4):c.381C>T (p.S127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810699" "0" "30" "X" "82764176" "82764176" "subst" "0" "01943" "POU3F4_000083" "g.82764176C>A" "" "" "" "POU3F4(NM_000307.4):c.844C>A (p.R282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830846" "1" "90" "X" "82764282" "82764282" "dup" "0" "00006" "POU3F4_000071" "g.82764282dup" "" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "950dupT" "" "Germline" "" "" "0" "" "" "g.83509274dup" "" "pathogenic (recessive)" "" "0000830847" "1" "90" "X" "82764392" "82764392" "del" "0" "00006" "POU3F4_000075" "g.82764392del" "" "{PMID:Choi 2013:23400403}, {PMID:Choi 2013:23076972}" "" "1069delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830848" "1" "99" "X" "82763955" "82763955" "subst" "0" "00006" "POU3F4_000033" "g.82763955T>A" "" "{PMID:Choi 2013:23076972}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830849" "0" "90" "X" "80851535" "82597832" "del" "0" "00006" "POU3F4_000103" "g.(?_80851535)_(82597832_?)del" "" "{PMID:Choi 2013:23400403}" "" "" "" "Germline" "" "" "0" "" "" "g.(?_80851535)_(82597832_?)del" "" "pathogenic (recessive)" "" "0000830858" "0" "90" "X" "82764018" "82764018" "subst" "0" "00006" "POU3F4_000007" "g.82764018A>G" "" "{PMID:Choi 2013:23990876}" "" "c.686A>G" "" "Germline" "" "" "0" "" "" "g.83509010A>G" "" "pathogenic (recessive)" "" "0000830859" "0" "90" "X" "82764392" "82764392" "del" "0" "00006" "POU3F4_000075" "g.82764392del" "" "{PMID:Choi 2013:23990876}" "" "c.1060delA" "" "Germline" "" "" "0" "" "" "g.83509384del" "" "pathogenic (recessive)" "" "0000830860" "0" "90" "X" "82764282" "82764282" "dup" "0" "00006" "POU3F4_000006" "g.82764282dup" "" "{PMID:Choi 2013:23990876}" "" "c.950dupT" "" "Germline" "" "" "0" "" "" "g.83509274dup" "" "pathogenic (recessive)" "" "0000830861" "0" "90" "X" "82763964" "82763964" "subst" "0" "00006" "POU3F4_000008" "g.82763964C>T" "" "{PMID:Choi 2013:23990876}" "" "c.632C>T" "" "Germline" "" "" "0" "" "" "g.83508956C>T" "" "pathogenic (recessive)" "" "0000830862" "0" "90" "X" "82763955" "82763955" "subst" "0" "00006" "POU3F4_000033" "g.82763955T>A" "" "{PMID:Choi 2013:23990876}" "" "c.623T>A" "" "Germline" "" "" "0" "" "" "g.83508947T>A" "" "pathogenic (recessive)" "" "0000830873" "0" "90" "X" "81654187" "82476146" "del" "0" "00006" "POU3F4_000084" "g.(78212959_81654187)_(82476146_82757231)del" "" "{PMID:Arellano 2000:10979118}" "" "" "deletion from DXS1225/DXS169 to DXS26/DXS995" "Germline" "yes" "" "0" "" "" "g.(78957951_82399179)_(83221138_83502223)del" "" "pathogenic" "" "0000830874" "21" "70" "X" "82763678" "82763682" "dup" "0" "00006" "POU3F4_000087" "g.82763678_82763682dup" "" "{PMID:Jiang 2021:33860785}" "" "" "ACMG PVS1_Strong, PM2" "Germline" "" "" "0" "" "" "g.83508670_83508674dup" "" "likely pathogenic (recessive)" "ACMG" "0000830875" "21" "70" "X" "82763753" "82763754" "delins" "0" "00006" "POU3F4_000089" "g.82763753_82763754delinsTA" "" "{PMID:Jiang 2021:33860785}" "" "" "ACMG PVS1_Strong, PM2" "Germline" "" "" "0" "" "" "g.83508745_83508746delinsTA" "" "likely pathogenic (recessive)" "ACMG" "0000830876" "0" "70" "X" "82763773" "82763773" "del" "0" "00006" "POU3F4_000090" "g.82763773del" "" "{PMID:Jiang 2021:33860785}" "" "" "ACMG PVS1_Strong, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.83508765del" "" "likely pathogenic (recessive)" "ACMG" "0000830877" "0" "70" "X" "82763678" "82763678" "dup" "0" "00006" "POU3F4_000086" "g.82763678dup" "" "{PMID:Jiang 2021:33860785}" "" "" "ACMG PVS1_Strong, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.83508670dup" "" "likely pathogenic (recessive)" "ACMG" "0000830878" "21" "70" "X" "82763564" "82763564" "subst" "0" "00006" "POU3F4_000085" "g.82763564C>T" "" "{PMID:Jiang 2021:33860785}" "" "" "ACMG PVS1_Strong, PM2" "Germline" "" "" "0" "" "" "g.83508556C>T" "" "likely pathogenic (recessive)" "ACMG" "0000830879" "21" "70" "X" "82763733" "82763736" "dup" "0" "00006" "POU3F4_000088" "g.82763733_82763736dup" "" "{PMID:Jiang 2021:33860785}" "" "" "ACMG PVS1_Strong, PM2" "Germline" "" "" "0" "" "" "g.83508725_83508728dup" "" "likely pathogenic (recessive)" "ACMG" "0000830880" "21" "70" "X" "81140314" "82011099" "delins" "0" "00006" "POU3F4_000105" "g.81140314_82011099delinsAGTGAAA" "" "{PMID:Jiang 2021:33860785}" "" "" "" "Germline" "" "" "0" "" "" "g.81885306_82756091delinsAGTGAAA" "" "likely pathogenic (recessive)" "" "0000830881" "0" "70" "X" "82146071" "90188492" "inv" "0" "00006" "POU3F4_000104" "g.82146071_90188492inv" "" "{PMID:Jiang 2021:33860785}" "" "chrX:82146071–90188492inv" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.82891063_90933484inv" "" "likely pathogenic (recessive)" "" "0000837158" "21" "70" "X" "82764038" "82764038" "subst" "0" "00000" "POU3F4_000046" "g.82764038G>A" "" "{PMID:Mei 2021:33976695}" "" "" "" "Germline" "yes" "" "0" "" "" "g.83509030G>A" "" "likely pathogenic (recessive)" "ACMG" "0000839750" "3" "70" "X" "82764267" "82764267" "subst" "0" "02551" "POU3F4_000091" "g.82764267C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000867590" "0" "50" "X" "82763721" "82763721" "subst" "0" "01943" "POU3F4_000092" "g.82763721C>A" "" "" "" "POU3F4(NM_000307.4):c.389C>A (p.P130H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867591" "0" "30" "X" "82763881" "82763881" "subst" "0" "01943" "POU3F4_000093" "g.82763881C>T" "" "" "" "POU3F4(NM_000307.4):c.549C>T (p.H183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896382" "0" "50" "X" "82763828" "82763828" "subst" "6.22274E-6" "02327" "POU3F4_000094" "g.82763828C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909351" "21" "70" "X" "82764038" "82764038" "subst" "0" "00006" "POU3F4_000046" "g.82764038G>A" "" "{PMID:Mei 2021:33976695}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000944166" "3" "90" "X" "82763810" "82763810" "subst" "0" "00006" "POU3F4_000095" "g.82763810C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.83508802C>T" "" "pathogenic (recessive)" "ACMG" "0000945941" "21" "90" "X" "31626542" "82320140" "inv" "0" "00006" "DMD_068719" "g.31626542_82320140inv" "" "{PMID:Chandrasekhar 2023:37929330}" "" "" "inversion from DMD intron to 443 kb upstream of POU3F4 gene" "Germline" "yes" "" "0" "" "" "g.31608425_82302023inv" "" "pathogenic (recessive)" "" "0000984877" "0" "30" "X" "82763987" "82763987" "subst" "0.000486738" "01804" "POU3F4_000096" "g.82763987C>T" "" "" "" "POU3F4(NM_000307.5):c.655C>T (p.(Leu219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006989" "0" "50" "X" "82764263" "82764263" "subst" "0" "01804" "POU3F4_000097" "g.82764263C>G" "" "" "" "POU3F4(NM_000307.4):c.931C>G (p.(Leu311Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044865" "1" "90" "X" "82763678" "82763678" "dup" "0" "00006" "POU3F4_000086" "g.82763678dup" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "346dupG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.83508670dup" "" "pathogenic" "" "0001044866" "1" "90" "X" "82764251" "82764253" "del" "0" "00006" "POU3F4_000098" "g.82764251_82764253del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "919_921delGAG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.83509243_83509245del" "" "pathogenic" "" "0001044867" "1" "90" "X" "82764282" "82764282" "subst" "0" "00006" "POU3F4_000099" "g.82764282T>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.83509274T>A" "" "pathogenic" "" "0001044868" "1" "90" "X" "82764416" "82764416" "subst" "0" "00006" "POU3F4_000009" "g.82764416T>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.83509408T>C" "" "pathogenic" "" "0001045524" "3" "70" "X" "82764079" "82764079" "del" "0" "04656" "POU3F4_000100" "g.82764079del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.83509071del" "" "likely pathogenic (recessive)" "ACMG" "0001046882" "0" "50" "X" "82764306" "82764306" "subst" "0" "02327" "POU3F4_000101" "g.82764306G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049443" "21" "90" "X" "81840743" "82636208" "delins" "0" "00006" "POU3F4_000102" "g.81840743_82636208delinsCATCATCTCAGCCCCATC" "" "{DOI:Yang 2025:10.3389/fgene.2025.1641999}" "" "" "795.5 kb deletion 140 kb upstream POU3F4 gene" "Germline" "yes" "" "0" "" "" "g.82585735_83381200delinsCATCATCTCAGCCCCATC" "" "pathogenic (recessive)" "" ## 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 POU3F4 ## Count = 154 "{{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}}" "0000091246" "00024114" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "1" "0000184717" "00024114" "10" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(=)" "1" "0000184718" "00024114" "10" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(=)" "1" "0000184719" "00024114" "10" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(=)" "1" "0000184720" "00024114" "10" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(=)" "1" "0000184721" "00024114" "10" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Gly237Ala)" "1" "0000184722" "00024114" "10" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Gly237Ala)" "1" "0000184723" "00024114" "10" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Gly237Ala)" "1" "0000184724" "00024114" "10" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Gly237Ala)" "1" "0000184725" "00024114" "50" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(=)" "1" "0000184726" "00024114" "50" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Gly237Ala)" "1" "0000184727" "00024114" "50" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.=" "1" "0000184728" "00024114" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.Met245Val" "1" "0000184729" "00024114" "70" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Met)" "1" "0000184730" "00024114" "70" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(Gln229Arg)" "1" "0000184731" "00024114" "70" "950" "0" "950" "0" "c.950dup" "r.(?)" "p.(Leu317Phefs*12)" "1" "0000184733" "00024114" "70" "1084" "0" "1084" "0" "c.1084T>C" "r.(?)" "p.(*362Argext*113)" "1" "0000184734" "00024114" "90" "-65" "0" "1443" "0" "c.-64_*356{0}" "r.0" "p.0" "_1_" "0000184735" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184736" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184737" "00024114" "90" "-65" "0" "1443" "0" "c.-64_*356{0}" "r.0" "p.0" "_1_" "0000184738" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1_" "0000184739" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1_" "0000184740" "00024114" "90" "-65" "0" "1443" "0" "c.-64_*356{0}" "r.0" "p.0" "_1_" "0000184741" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184742" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184743" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184744" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184745" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184746" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184747" "00024114" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_1" "0000184750" "00024114" "90" "648" "0" "648" "0" "c.648del" "r.(?)" "p.(Leu217TrpfsTer24)" "1" "0000184751" "00024114" "90" "896" "0" "896" "0" "c.896del" "r.(?)" "p.(Lys299SerfsTer38)" "1" "0000184752" "00024114" "90" "950" "0" "950" "0" "c.950T>G" "r.(?)" "p.(Leu317Trp)" "1" "0000184753" "00024114" "90" "1000" "0" "1000" "0" "c.1000A>G" "r.(?)" "p.(Lys334Glu)" "1" "0000184754" "00024114" "90" "862" "0" "865" "0" "c.862_865del" "r.(?)" "p.(Val289Argfs*47)" "1" "0000184755" "00024114" "90" "862" "0" "865" "0" "c.862_865del" "r.(?)" "p.(Val289Argfs*47)" "1" "0000184756" "00024114" "90" "967" "0" "967" "0" "c.967C>G" "r.(?)" "p.(Arg323Gly)" "1" "0000184757" "00024114" "90" "0" "0" "0" "0" "c.-64_*356{0}" "r.0?" "p.0?" "_1_" "0000184758" "00024114" "90" "0" "0" "0" "0" "c.-64_*356{0}" "r.0?" "p.0?" "_1_" "0000184759" "00024114" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Trp67*)" "1" "0000184760" "00024114" "90" "293" "0" "293" "0" "c.293C>A" "r.(?)" "p.(Ser98*)" "1" "0000184761" "00024114" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Trp114*)" "1" "0000184762" "00024114" "90" "346" "0" "346" "0" "c.346del" "r.(?)" "p.(Ala116Profs*26)" "1" "0000184764" "00024114" "90" "383" "0" "383" "0" "c.383del" "r.(?)" "p.(Gly128Alafs*14)" "1" "0000184765" "00024114" "90" "383" "0" "383" "0" "c.383del" "r.(?)" "p.(Gly128Alafs*14)" "1" "0000184766" "00024114" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Gln136*)" "1" "0000184767" "00024114" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167*)" "1" "0000184768" "00024114" "90" "601" "0" "606" "0" "c.601_606del" "r.(?)" "p.(Phe201_Lys202del)" "1" "0000184769" "00024114" "90" "623" "0" "623" "0" "c.623T>A" "r.(?)" "p.(Leu208*)" "1" "0000184770" "00024114" "90" "623" "0" "623" "0" "c.623T>A" "r.(?)" "p.(Leu208*)" "1" "0000184771" "00024114" "90" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Gly216Glu)" "1" "0000184772" "00024114" "90" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Ser228Leu)" "1" "0000184773" "00024114" "90" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Ile)" "1" "0000184774" "00024114" "90" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Pro303Ser)" "1" "0000184775" "00024114" "90" "923" "0" "923" "0" "c.923T>A" "r.(?)" "p.(Ile308Asn)" "1" "0000184776" "00024114" "90" "925" "0" "925" "0" "c.925T>C" "r.(?)" "p.(Ser309Pro)" "1" "0000184777" "00024114" "90" "927" "0" "929" "0" "c.927_929del" "r.(?)" "p.(Ser310del)" "1" "0000184779" "00024114" "90" "935" "0" "935" "0" "c.935C>T" "r.(?)" "p.(Ala312Val)" "1" "0000184780" "00024114" "90" "935" "0" "935" "0" "c.935C>T" "r.(?)" "p.(Ala312Val)" "1" "0000184781" "00024114" "90" "973" "0" "973" "0" "c.973T>A" "r.(?)" "p.(Trp325Arg)" "1" "0000184782" "00024114" "90" "983" "0" "983" "0" "c.983A>C" "r.(?)" "p.(Asn328Thr)" "1" "0000184783" "00024114" "90" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(Arg329Gly)" "1" "0000184784" "00024114" "90" "986" "0" "986" "0" "c.986G>C" "r.(?)" "p.(Arg329Pro)" "1" "0000184786" "00024114" "90" "990" "0" "990" "0" "c.990A>T" "r.(?)" "p.(Arg330Ser)" "1" "0000184787" "00024114" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "1" "0000184788" "00024114" "90" "853" "0" "854" "0" "c.853_854del" "r.(?)" "p.(Ile285Argfs*43)" "1" "0000248741" "00024114" "10" "708" "0" "708" "0" "c.708=" "r.(=)" "p.(Glu236=)" "" "0000297284" "00024114" "10" "710" "0" "710" "0" "c.710=" "r.(=)" "p.(Ala237=)" "" "0000306223" "00024114" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Gly64Glu)" "" "0000306224" "00024114" "10" "710" "0" "710" "0" "c.710=" "r.(=)" "p.(Ala237=)" "" "0000334790" "00024114" "50" "425" "0" "425" "0" "c.425G>C" "r.(?)" "p.(Ser142Thr)" "" "0000342526" "00024114" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Gln)" "" "0000345272" "00024114" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Glu236Lys)" "" "0000347533" "00024114" "70" "1000" "0" "1000" "0" "c.1000A>G" "r.(?)" "p.(Lys334Glu)" "" "0000577650" "00024114" "50" "103" "0" "103" "0" "c.103C>A" "r.(?)" "p.(Gln35Lys)" "" "0000577651" "00024114" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ser69Phe)" "" "0000577652" "00024114" "90" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Glu168Ter)" "" "0000577653" "00024114" "30" "846" "0" "846" "0" "c.846G>T" "r.(?)" "p.(Arg282=)" "" "0000577654" "00024114" "50" "925" "0" "925" "0" "c.925T>C" "r.(?)" "p.(Ser309Pro)" "" "0000577655" "00024114" "50" "999" "0" "999" "0" "c.999G>T" "r.(?)" "p.(Glu333Asp)" "" "0000619936" "00024114" "50" "730" "0" "730" "0" "c.730A>G" "r.(?)" "p.(Asn244Asp)" "" "0000642582" "00024114" "99" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(Trp67*)" "1" "0000642583" "00024114" "99" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "1" "0000642584" "00024114" "99" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Trp114*)" "1" "0000642586" "00024114" "99" "383" "0" "383" "0" "c.383del" "r.(?)" "p.(Gly128Alafs*14)" "1" "0000642587" "00024114" "55" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Ser161Arg)" "1" "0000642588" "00024114" "99" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167*)" "1" "0000642589" "00024114" "55" "506" "0" "506" "0" "c.506C>T" "r.(?)" "p.(Pro169Leu)" "1" "0000642590" "00024114" "99" "540" "0" "540" "0" "c.540C>A" "r.(?)" "p.(Cys180*)" "1" "0000642591" "00024114" "99" "601" "0" "606" "0" "c.601_606del" "r.(?)" "p.(Phe201_Lys202del)" "1" "0000642592" "00024114" "90" "607" "0" "610" "0" "c.607_610del" "r.(?)" "p.(Gln203Glufs*37)" "1" "0000642594" "00024114" "90" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Met)" "1" "0000642596" "00024114" "99" "648" "0" "648" "0" "c.648dup" "r.(?)" "p.(Leu217Valfs*9)" "1" "0000642597" "00024114" "55" "652" "0" "652" "0" "c.652del" "r.(?)" "p.(Ala218Argfs*23)" "1" "0000642598" "00024114" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(Gln229Arg)" "1" "0000642599" "00024114" "99" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Ile)" "1" "0000642600" "00024114" "77" "695" "0" "695" "0" "c.695T>C" "r.(?)" "p.(Ile232Thr)" "1" "0000642601" "00024114" "99" "731" "0" "731" "0" "c.731dup" "r.(?)" "p.(Asn244Lysfs*27)" "1" "0000642602" "00024114" "99" "772" "0" "772" "0" "c.772del" "r.(?)" "p.(Glu258Argfs*30)" "1" "0000642603" "00024114" "99" "853" "0" "854" "0" "c.853_854del" "r.(?)" "p.(Ile285Argfs*43)" "1" "0000642604" "00024114" "99" "862" "0" "865" "0" "c.862_865del" "r.(?)" "p.(Val289Argfs*47)" "1" "0000642606" "00024114" "99" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Pro301Leu)" "1" "0000642607" "00024114" "99" "908" "0" "908" "0" "c.908C>A" "r.(?)" "p.(Pro303His)" "1" "0000642608" "00024114" "99" "923" "0" "923" "0" "c.923T>C" "r.(?)" "p.(Ile308Thr)" "1" "0000642609" "00024114" "99" "935" "0" "935" "0" "c.935C>T" "r.(?)" "p.(Ala312Val)" "1" "0000642610" "00024114" "99" "950" "0" "950" "0" "c.950dup" "r.(?)" "p.(Leu317Phefs*12)" "1" "0000642612" "00024114" "55" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Val322Met)" "1" "0000642616" "00024114" "99" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(Arg329Gly)" "1" "0000642619" "00024114" "90" "1060" "0" "1060" "0" "c.1060del" "r.(?)" "p.(Thr354Glnfs*115)" "1" "0000642620" "00024114" "90" "1084" "0" "1084" "0" "c.1084T>C" "r.(?)" "p.(*362Argext*113)" "1" "0000642621" "00024114" "77" "1086" "0" "1089" "0" "c.1086_*3del" "r.(?)" "p.(*362Trpext*105)" "1" "0000674735" "00024114" "70" "227" "0" "227" "0" "c.227del" "r.(?)" "p.(Leu76Argfs*6)" "" "0000693764" "00024114" "30" "447" "0" "447" "0" "c.447A>C" "r.(?)" "p.(Gly149=)" "" "0000729235" "00024114" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Ala156=)" "" "0000729236" "00024114" "70" "975" "0" "975" "0" "c.975G>T" "r.(?)" "p.(Trp325Cys)" "" "0000729237" "00024114" "70" "1086" "0" "1086" "0" "c.1086A>G" "r.(?)" "p.(*362Trpext*113)" "" "0000810698" "00024114" "30" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(Ser127=)" "" "0000810699" "00024114" "30" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Arg282=)" "" "0000830846" "00024114" "90" "950" "0" "950" "0" "c.950dup" "r.(?)" "p.(Leu317Phefs*12)" "1" "0000830847" "00024114" "90" "1060" "0" "1060" "0" "c.1060del" "r.(?)" "p.(Thr354Glnfs*115)" "1" "0000830848" "00024114" "99" "623" "0" "623" "0" "c.623T>A" "r.(?)" "p.(Leu208*)" "1" "0000830849" "00024114" "90" "-1911798" "0" "-165501" "0" "c.(?_-1911798)_(-165501_?)del" "r.?" "p.?" "_1" "0000830858" "00024114" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(Gln229Arg)" "" "0000830859" "00024114" "90" "1060" "0" "1060" "0" "c.1060del" "r.(?)" "p.(Thr354GlnfsTer115)" "" "0000830860" "00024114" "90" "950" "0" "950" "0" "c.950dup" "r.(?)" "p.(Leu317PhefsTer12)" "" "0000830861" "00024114" "90" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Met)" "" "0000830862" "00024114" "90" "623" "0" "623" "0" "c.623T>A" "r.(?)" "p.(Leu208Ter)" "" "0000830873" "00024114" "90" "-1109146" "0" "-287187" "0" "c.(-4550374_-1109146)_(-287187_-6102)del" "r.?" "p.?" "_1" "0000830874" "00024114" "70" "346" "0" "350" "0" "c.346_350dup" "r.(?)" "p.(Ser117ArgfsTer27)" "" "0000830875" "00024114" "70" "421" "0" "422" "0" "c.421_422delinsTA" "r.(?)" "p.(Val141Ter)" "" "0000830876" "00024114" "70" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(His147GlnfsTer94)" "" "0000830877" "00024114" "70" "346" "0" "346" "0" "c.346dup" "r.(?)" "p.(Ala116GlyfsTer77)" "" "0000830878" "00024114" "70" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Gln78Ter)" "" "0000830879" "00024114" "70" "401" "0" "404" "0" "c.401_404dup" "r.(?)" "p.(Gln136LeufsTer58)" "" "0000830880" "00024114" "70" "-1623019" "0" "-752234" "0" "c.-1623019_-752234delinsAGTGAAA" "r.?" "p.?" "_1" "0000830881" "00024114" "70" "-617262" "0" "7425160" "0" "c.-617262_*7424074inv" "r.?" "p.?" "_1_" "0000837158" "00024114" "70" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Glu236Lys)" "1" "0000839750" "00024114" "70" "935" "0" "935" "0" "c.935C>A" "r.(?)" "p.(Ala312Glu)" "" "0000867590" "00024114" "50" "389" "0" "389" "0" "c.389C>A" "r.(?)" "p.(Pro130His)" "" "0000867591" "00024114" "30" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(His183=)" "" "0000896382" "00024114" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Leu166Phe)" "" "0000909351" "00024114" "70" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Glu236Lys)" "" "0000944166" "00024114" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Gln160Ter)" "" "0000945941" "00024114" "90" "-8388608" "0" "-443193" "0" "c.-51136791_-443193inv" "r.?" "p.?" "_1" "0000984877" "00024114" "30" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(=)" "" "0001006989" "00024114" "50" "931" "0" "931" "0" "c.931C>G" "r.(?)" "p.(Leu311Val)" "" "0001044865" "00024114" "90" "346" "0" "346" "0" "c.346dup" "r,(?)" "p.(Ala116GlyfsTer77)" "" "0001044866" "00024114" "90" "919" "0" "921" "0" "c.919_921del" "r,(?)" "p.(Glu307del)" "" "0001044867" "00024114" "90" "950" "0" "950" "0" "c.950T>A" "r,(?)" "p.(Leu317Ter)" "" "0001044868" "00024114" "90" "1084" "0" "1084" "0" "c.1084T>C" "r,(?)" "p.(Ter362ArgextTer113)" "" "0001045524" "00024114" "70" "747" "0" "747" "0" "c.747del" "r.(?)" "p.(Lys249Asnfs*4)" "" "0001046882" "00024114" "50" "974" "0" "974" "0" "c.974G>C" "r.(?)" "p.(Trp325Ser)" "" "0001049443" "00024114" "90" "-922590" "0" "-127125" "0" "c.-922590_-127125delinsCATCATCTCAGCCCCATC" "r.(=|red)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 127 "{{screeningid}}" "{{variantid}}" "0000060249" "0000091246" "0000115273" "0000184734" "0000115274" "0000184737" "0000115275" "0000184740" "0000115276" "0000184757" "0000115277" "0000184758" "0000115278" "0000184787" "0000115279" "0000184788" "0000115280" "0000184738" "0000115281" "0000184735" "0000115282" "0000184747" "0000115283" "0000184745" "0000115284" "0000184736" "0000115285" "0000184741" "0000115286" "0000184743" "0000115287" "0000184742" "0000115288" "0000184744" "0000115289" "0000184746" "0000115290" "0000184754" "0000115291" "0000184779" "0000115292" "0000184753" "0000115294" "0000184750" "0000115295" "0000184751" "0000115296" "0000184752" "0000115297" "0000184773" "0000115298" "0000184783" "0000115299" "0000184786" "0000115300" "0000184756" "0000115301" "0000184768" "0000115302" "0000184759" "0000115303" "0000184774" "0000115304" "0000184782" "0000115305" "0000184772" "0000115306" "0000184776" "0000115307" "0000184717" "0000115307" "0000184721" "0000115307" "0000184764" "0000115308" "0000184718" "0000115308" "0000184722" "0000115308" "0000184769" "0000115309" "0000184762" "0000115310" "0000184777" "0000115311" "0000184784" "0000115312" "0000184760" "0000115313" "0000184775" "0000115314" "0000184771" "0000115315" "0000184767" "0000115316" "0000184781" "0000115317" "0000184761" "0000115318" "0000184766" "0000115319" "0000184739" "0000115320" "0000184755" "0000115321" "0000184780" "0000115323" "0000184765" "0000115324" "0000184770" "0000115325" "0000184719" "0000115326" "0000184720" "0000115327" "0000184723" "0000115328" "0000184724" "0000115332" "0000184727" "0000115333" "0000184729" "0000115333" "0000184730" "0000115333" "0000184731" "0000115333" "0000184733" "0000115334" "0000184725" "0000115334" "0000184726" "0000115335" "0000184728" "0000286840" "0000642582" "0000286841" "0000642583" "0000286842" "0000642584" "0000286844" "0000642586" "0000286845" "0000642587" "0000286846" "0000642588" "0000286847" "0000642589" "0000286848" "0000642590" "0000286849" "0000642591" "0000286850" "0000642592" "0000286852" "0000642594" "0000286854" "0000642596" "0000286855" "0000642597" "0000286856" "0000642598" "0000286857" "0000642599" "0000286858" "0000642600" "0000286859" "0000642601" "0000286860" "0000642602" "0000286861" "0000642603" "0000286862" "0000642604" "0000286864" "0000642606" "0000286865" "0000642607" "0000286866" "0000642608" "0000286867" "0000642609" "0000286868" "0000642610" "0000286870" "0000642612" "0000286874" "0000642616" "0000286877" "0000642619" "0000286878" "0000642620" "0000286879" "0000642621" "0000307914" "0000674735" "0000398630" "0000830846" "0000398631" "0000830847" "0000398632" "0000830848" "0000398633" "0000830849" "0000398642" "0000830858" "0000398643" "0000830859" "0000398644" "0000830860" "0000398645" "0000830861" "0000398646" "0000830862" "0000398654" "0000830873" "0000398656" "0000830874" "0000398657" "0000830875" "0000398658" "0000830876" "0000398659" "0000830877" "0000398660" "0000830878" "0000398661" "0000830879" "0000398662" "0000830880" "0000398663" "0000830881" "0000402879" "0000837158" "0000404138" "0000839750" "0000429736" "0000909351" "0000442839" "0000944166" "0000444095" "0000945941" "0000467096" "0001044865" "0000467097" "0001044866" "0000467098" "0001044867" "0000467099" "0001044868" "0000467642" "0001045524" "0000469220" "0001049443"