### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMPRSS3) # 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}}" "TMPRSS3" "transmembrane protease, serine 3" "21" "q22.3" "unknown" "NG_011629.1" "UD_134408299464" "" "http://www.LOVD.nl/TMPRSS3" "" "1" "11877" "64699" "605511" "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/TMPRSS3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-17 11:27:22" "00006" "2025-12-05 13:23:08" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024188" "TMPRSS3" "transcript variant A" "003" "NM_024022.2" "" "NP_076927.1" "" "" "" "-201" "2240" "1365" "43816200" "43791996" "00006" "2016-10-17 11:25:13" "" "" "00025912" "TMPRSS3" "transcript variant F" "002" "NM_001256317.1" "" "NP_001243246.1" "" "" "RefSeq select" "-201" "2237" "1362" "43816200" "43791996" "00006" "2024-02-13 21:54:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "05037" "DFNB8" "deafness, autosomal recessive, type 8/10 (DFNB-8)" "AR" "601072" "" "" "" "00000" "2015-09-23 11:00:40" "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" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TMPRSS3" "05037" ## Individuals ## Do not remove or alter this header ## ## Count = 125 "{{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}}" "00080047" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00117291" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1541" "00117292" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1802" "00163215" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1734" "00163534" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1670" "00285437" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285438" "" "" "" "1" "" "00004" "{PMID:Charif 2012:22382023}" "" "" "" "" "" "0" "" "" "" "" "00285439" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00285440" "" "" "" "1" "" "00004" "{PMID:Vozzi 2014:24657061}" "" "" "" "" "" "0" "" "" "" "" "00285441" "" "" "" "1" "" "00004" "{PMID:Charif 2012:22382023}" "" "" "" "" "" "0" "" "" "" "" "00285442" "" "" "" "1" "" "00004" "{PMID:Weegerink 2011:21786053}, {PMID:Wattenhofer 2002:11907649}, {PMID:Shearer 1993:20301607}, {PMID:Richards 2015:25741868}, {PMID:Lee 2003:12920079}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285443" "" "" "" "1" "" "00004" "{PMID:Wattenhofer 2002:11907649}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285444" "" "" "" "1" "" "00004" "{PMID:Lee 2012:21534946}" "" "" "" "" "" "0" "" "" "" "" "00285445" "" "" "" "1" "" "00004" "{PMID:Lee 2003:12920079}" "" "" "" "" "" "0" "" "" "" "" "00285446" "" "" "" "1" "" "00004" "{PMID:Masmoudi 2001:11462234}, {PMID:Wattenhofer 2005:16021470}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2003:12920079}" "" "" "" "" "" "0" "" "" "" "" "00285447" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285448" "" "" "" "1" "" "00004" "{PMID:Imtiaz 2011:21726435}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285449" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285450" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Wattenhofer 2005:16021470}, {PMID:Duzkale 2013:24033266}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285451" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285452" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:24130743}, {PMID:Miyagawa 2015:25770132}" "" "" "" "" "" "0" "" "" "" "" "00285453" "" "" "" "1" "" "00004" "{PMID:Ganapathy 2014:24416283}" "" "" "" "" "" "0" "" "" "" "" "00285454" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285455" "" "" "" "1" "" "00004" "{PMID:Ben-Yosef 2001:11424922}, {PMID:Wattenhofer 2002:11907649}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285456" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285457" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285458" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285459" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duman 2011:21117948}, {PMID:Duzkale 2013:24033266}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285460" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285461" "" "" "" "1" "" "00004" "{PMID:Vozzi 2014:24657061}" "" "" "" "" "" "0" "" "" "" "" "00285462" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285463" "" "" "" "1" "" "00004" "{PMID:Walsh 2006:16460646}" "" "" "" "" "" "0" "" "" "" "" "00285464" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285465" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285466" "" "" "" "1" "" "00004" "{PMID:Weegerink 2011:21786053}, {PMID:Schrauwen 2013:23208854}, {PMID:Shearer 1993:20301607}, {PMID:Chung 2014:24526180}, {PMID:Elbracht 2007:17551081}, {PMID:Lee 2013:23958653}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285467" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285468" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285469" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2015:25770132}" "" "" "" "" "" "0" "" "" "" "" "00285470" "" "" "" "1" "" "00004" "{PMID:Lee 2012:21534946}" "" "" "" "" "" "0" "" "" "" "" "00285471" "" "" "" "1" "" "00004" "{PMID:Masmoudi 2001:11462234}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2003:12920079}" "" "" "" "" "" "0" "" "" "" "" "00285472" "" "" "" "1" "" "00004" "{PMID:Chung 2014:24526180}" "" "" "" "" "" "0" "" "" "" "" "00285473" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285474" "" "" "" "1" "" "00004" "{PMID:Ganapathy 2014:24416283}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285475" "" "" "" "1" "" "00004" "{PMID:Shafique 2014:24949729}" "" "" "" "" "" "0" "" "" "" "" "00285476" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285477" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Wattenhofer 2005:16021470}" "" "" "" "" "" "0" "" "" "" "" "00285478" "" "" "" "1" "" "00004" "{PMID:Elbracht 2007:17551081}" "" "" "" "" "" "0" "" "" "" "" "00285479" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285480" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:24130743}, {PMID:Miyagawa 2015:25770132}" "" "" "" "" "" "0" "" "" "" "" "00285481" "" "" "" "1" "" "00004" "{PMID:Weegerink 2011:21786053}" "" "" "" "" "" "0" "" "" "" "" "00285482" "" "" "" "1" "" "00004" "{PMID:Shahin 2010:19888295}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285483" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285484" "" "" "" "1" "" "00004" "{PMID:Ben-Yosef 2001:11424922}, {PMID:Lee 2003:12920079}" "" "" "" "" "" "0" "" "" "" "" "00285485" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285486" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00285487" "" "" "" "1" "" "00004" "{PMID:Fan 2014:25474651}" "" "" "" "" "" "0" "" "" "" "" "00285488" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285489" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285490" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285491" "" "" "" "1" "" "00004" "{PMID:Hutchin 2005:16283880}, {PMID:Eppsteiner 2012:22975204}" "" "" "" "" "" "0" "" "" "" "" "00285492" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285493" "" "" "" "1" "" "00004" "{PMID:Bonnet 2011:21569298}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285494" "" "" "" "1" "" "00004" "{PMID:Ganapathy 2014:24416283}" "" "" "" "" "" "0" "" "" "" "" "00285495" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285496" "" "" "" "1" "" "00004" "{PMID:Guipponi 2002:12393794}, {PMID:Shearer 1993:20301607}, {PMID:Andreasen 2006:16524950}, {PMID:Duzkale 2013:24033266}, {PMID:Ben-Yosef 2001:11424922}, {PMID:Lee 2003:12920079}" "" "" "" "" "" "0" "" "" "" "" "00285497" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285498" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00285499" "" "" "" "1" "" "00004" "{PMID:Lee 2012:21534946}" "" "" "" "" "" "0" "" "" "" "" "00285500" "" "" "" "1" "" "00004" "{PMID:Lee 2012:21534946}" "" "" "" "" "" "0" "" "" "" "" "00285501" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285502" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Wattenhofer 2002:11907649}, {PMID:Lee 2003:12920079}" "" "" "" "" "" "0" "" "" "" "" "00285503" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285504" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285505" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00285506" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285507" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285508" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285509" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285510" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285511" "" "" "" "1" "" "00004" "{PMID:Weegerink 2011:21786053}, {PMID:Kecmanovi? 2009:19170735}, {PMID:Ahmed 2004:15447792}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2012:21534946}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285512" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285513" "" "" "" "1" "" "00004" "{PMID:Diaz-Horta 2012:23226338}" "" "" "" "" "" "0" "" "" "" "" "00293000" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293001" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293002" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293003" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293004" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293005" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293006" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293007" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293008" "" "" "" "225" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304876" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309870" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL022" "00327148" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB456-884" "00380708" "" "" "" "3" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "T1" "00380709" "" "" "00380708" "2" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "" "00380710" "" "" "00380708" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "" "00380711" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "T2" "00441115" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamHL533" "00441116" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamM21968" "00441433" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4020" "00441434" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1053" "00441435" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4003" "00441436" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKSR31" "00441437" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4106" "00441438" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4124" "00441439" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF765" "00441440" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4046" "00441441" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4202" "00441442" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4560" "00441443" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "LUAB13" "00441444" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "HL003" "00441445" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1057" "00441446" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1330" "00441447" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1634" "00441461" "" "" "00441344" "2" "" "00006" "{PMID:Richard 2019: 30303587}" "2 brothers seggregating OTOG associated hearing loss" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4372" "00441633" "" "" "" "5" "" "00006" "{PMID:Wattenhofer 2002:11907649}, {PMID:Naz 2017:27573290}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-13" "00441634" "" "" "" "3" "" "00006" "{PMID:Ben-Yosef 2001:11424922}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM08" "00441635" "" "" "" "5" "" "00006" "{PMID:Scott 2001:11137999}, {PMID:Naz 2017:27573290}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLM1" "00441636" "" "" "" "4" "" "00006" "{PMID:Scott 2001:11137999}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLMI02" "00465473" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465474" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465475" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00467748" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00470657" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected mother and father" "F" "" "Poland" "" "0" "" "" "" "Pat18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 93 "{{individualid}}" "{{diseaseid}}" "00080047" "05103" "00117291" "05103" "00117292" "05103" "00163215" "00350" "00163534" "05400" "00285438" "05086" "00285439" "05103" "00285440" "05086" "00285441" "05086" "00285442" "05086" "00285444" "05086" "00285445" "05103" "00285446" "05103" "00285448" "05086" "00285450" "05103" "00285452" "05103" "00285453" "05103" "00285459" "05103" "00285461" "05086" "00285463" "05086" "00285466" "05103" "00285469" "05086" "00285470" "05086" "00285471" "05103" "00285472" "05086" "00285474" "05103" "00285475" "05103" "00285476" "05086" "00285477" "05103" "00285478" "05103" "00285480" "05103" "00285481" "05086" "00285482" "05086" "00285483" "05103" "00285484" "05103" "00285485" "05103" "00285486" "05103" "00285487" "05086" "00285491" "05103" "00285494" "05103" "00285496" "05103" "00285497" "05103" "00285498" "05103" "00285499" "05086" "00285500" "05086" "00285502" "05103" "00285505" "05103" "00285511" "05103" "00285512" "05086" "00285513" "05086" "00293000" "00198" "00293001" "00198" "00293002" "00198" "00293003" "00198" "00293004" "00198" "00293005" "00198" "00293006" "00198" "00293007" "00198" "00293008" "00198" "00304876" "00198" "00309870" "05086" "00327148" "05086" "00380708" "05086" "00380709" "05086" "00380710" "05086" "00380711" "05086" "00441115" "05086" "00441116" "05086" "00441433" "05086" "00441434" "05086" "00441435" "05086" "00441436" "05086" "00441437" "05086" "00441438" "05086" "00441439" "05086" "00441440" "05086" "00441441" "05086" "00441442" "05086" "00441443" "05086" "00441444" "05086" "00441445" "05086" "00441446" "05086" "00441447" "05086" "00441461" "05086" "00441633" "05086" "00441634" "05086" "00441635" "05086" "00441636" "05086" "00465473" "05086" "00465474" "05086" "00465475" "05086" "00467748" "05611" "00470657" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 05037, 05086, 05103, 05400, 05611, 07210 ## Count = 81 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000092538" "05103" "00117291" "00110" "Familial, autosomal recessive" "13y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092539" "05103" "00117292" "00110" "Isolated (sporadic)" "23y" "" ">10y" "" "" "" "" "" "" "" "" "" "" "0000128352" "00350" "00163215" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128671" "05400" "00163534" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000218307" "05086" "00285438" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218308" "05086" "00285440" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218309" "05086" "00285441" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218310" "05086" "00285442" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218311" "05086" "00285444" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218312" "05086" "00285448" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, sensorineural" "" "0000218313" "05086" "00285461" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218314" "05086" "00285463" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218315" "05086" "00285469" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, sensorineural" "" "0000218316" "05086" "00285470" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218317" "05086" "00285472" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218318" "05086" "00285476" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218319" "05086" "00285481" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218320" "05086" "00285482" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218321" "05086" "00285487" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218322" "05086" "00285499" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218323" "05086" "00285500" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218324" "05086" "00285512" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218325" "05086" "00285513" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218641" "05103" "00285439" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 8; type 10" "deafness, autosomal recessive, non-syndromic" "" "0000218642" "05103" "00285445" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218643" "05103" "00285446" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218644" "05103" "00285450" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218645" "05103" "00285452" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218646" "05103" "00285453" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive, non-syndromic" "" "0000218647" "05103" "00285459" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive, non-syndromic" "" "0000218648" "05103" "00285466" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218649" "05103" "00285471" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218650" "05103" "00285474" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive, non-syndromic" "" "0000218651" "05103" "00285475" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive, non-syndromic" "" "0000218652" "05103" "00285477" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218653" "05103" "00285478" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218654" "05103" "00285480" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218655" "05103" "00285483" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 8; type 10" "deafness, autosomal recessive" "" "0000218656" "05103" "00285484" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218657" "05103" "00285485" "00008" "Unknown" "" "hearing loss (HL), hereditary" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218658" "05103" "00285486" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218659" "05103" "00285491" "00008" "Unknown" "" "hearing loss (HL), hereditary" "" "" "" "" "" "" "" "" "" "deafness, childhood onset" "" "0000218660" "05103" "00285494" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive, non-syndromic" "" "0000218661" "05103" "00285496" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218662" "05103" "00285497" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, childhood onset" "" "0000218663" "05103" "00285498" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218664" "05103" "00285502" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, childhood onset" "" "0000218665" "05103" "00285505" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218666" "05103" "00285511" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, childhood onset" "" "0000235185" "05086" "00309870" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "nonsyndromic hearing loss and deafness (AR)" "hearing loss" "" "0000274561" "05086" "00380708" "04006" "Familial, autosomal recessive" "" "postlingual progressive HL" "" "" "" "" "" "" "" "" "" "" "" "0000274562" "05086" "00380709" "04006" "Familial, autosomal recessive" "" "postlingual progressive HL" "" "" "" "" "" "" "" "" "" "" "" "0000274563" "05086" "00380710" "04006" "Familial, autosomal recessive" "" "postlingual progressive HL" "" "" "" "" "" "" "" "" "" "" "" "0000274564" "05086" "00380711" "04006" "Isolated (sporadic)" "" "postlingual progressive HL" "" "" "" "" "" "" "" "" "" "" "" "0000330555" "05086" "00441115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330556" "05086" "00441116" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330873" "05086" "00441433" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330874" "05086" "00441434" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330875" "05086" "00441435" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330876" "05086" "00441436" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330877" "05086" "00441437" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330878" "05086" "00441438" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330879" "05086" "00441439" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330880" "05086" "00441440" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330881" "05086" "00441441" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330882" "05086" "00441442" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330883" "05086" "00441443" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330884" "05086" "00441444" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330885" "05086" "00441445" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330886" "05086" "00441446" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330887" "05086" "00441447" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330901" "05086" "00441461" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331042" "05086" "00441633" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331043" "05086" "00441634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331044" "05086" "00441635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331045" "05086" "00441636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351021" "05086" "00465473" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351022" "05086" "00465474" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351023" "05086" "00465475" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000352900" "05611" "00467748" "00006" "Isolated (sporadic)" "9y" "see paper; ..., no cardiac anomalies; downslanting palpebral fissures, short neck, Noonan-like facies; attention-deficit hyperactivity disorder, learning difficulties; no seizures" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" "0000355551" "07210" "00470657" "00006" "Familial" "15y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity; mother scoliosis, spondylolisthesis; father scoliosis" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 125 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080126" "00080047" "1" "01740" "01740" "2016-09-01 13:52:30" "" "" "SEQ-NG" "DNA" "" "" "0000117759" "00117291" "1" "00110" "00110" "2017-08-17 14:31:35" "00110" "2017-08-17 14:42:29" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000117760" "00117292" "1" "00110" "00110" "2017-08-17 14:38:32" "00006" "2020-09-25 08:52:33" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "Quantitative Multiplex PCR of Short Fluorescent fragments" "0000164080" "00163215" "1" "02416" "00110" "2017-08-14 17:40:41" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164399" "00163534" "1" "02416" "00110" "2017-08-14 16:09:48" "00110" "2017-12-06 10:04:40" "SEQ;SEQ-NG-S" "DNA" "" "" "0000286587" "00285437" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286588" "00285438" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286589" "00285439" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286590" "00285440" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286591" "00285441" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286592" "00285442" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286593" "00285443" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286594" "00285444" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286595" "00285445" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286596" "00285446" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286597" "00285447" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286598" "00285448" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286599" "00285449" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286600" "00285450" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286601" "00285451" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286602" "00285452" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286603" "00285453" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286604" "00285454" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286605" "00285455" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286606" "00285456" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286607" "00285457" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286608" "00285458" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286609" "00285459" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286610" "00285460" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286611" "00285461" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286612" "00285462" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286613" "00285463" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286614" "00285464" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286615" "00285465" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286616" "00285466" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286617" "00285467" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286618" "00285468" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286619" "00285469" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286620" "00285470" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286621" "00285471" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286622" "00285472" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286623" "00285473" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286624" "00285474" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286625" "00285475" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286626" "00285476" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286627" "00285477" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286628" "00285478" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286629" "00285479" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286630" "00285480" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286631" "00285481" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286632" "00285482" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286633" "00285483" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286634" "00285484" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286635" "00285485" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286636" "00285486" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286637" "00285487" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286638" "00285488" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286639" "00285489" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286640" "00285490" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286641" "00285491" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286642" "00285492" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286643" "00285493" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286644" "00285494" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286645" "00285495" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286646" "00285496" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286647" "00285497" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286648" "00285498" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286649" "00285499" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286650" "00285500" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286651" "00285501" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286652" "00285502" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286653" "00285503" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286654" "00285504" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286655" "00285505" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286656" "00285506" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286657" "00285507" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286658" "00285508" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286659" "00285509" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286660" "00285510" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286661" "00285511" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286662" "00285512" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286663" "00285513" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294168" "00293000" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294169" "00293001" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294170" "00293002" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294171" "00293003" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294172" "00293004" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294173" "00293005" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294174" "00293006" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294175" "00293007" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294176" "00293008" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306005" "00304876" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311014" "00309870" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328360" "00327148" "1" "03611" "03611" "2021-01-20 09:04:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000381921" "00380708" "1" "04006" "04006" "2021-08-19 19:48:14" "" "" "SEQ-NG" "DNA" "" "" "0000381922" "00380709" "1" "04006" "04006" "2021-08-19 19:55:37" "" "" "SEQ" "DNA" "" "" "0000381923" "00380710" "1" "04006" "04006" "2021-08-19 19:58:40" "" "" "SEQ" "DNA" "" "" "0000381924" "00380711" "1" "04006" "04006" "2021-08-19 20:53:20" "" "" "SEQ" "DNA" "" "" "0000442600" "00441115" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442601" "00441116" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442919" "00441433" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442920" "00441434" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442921" "00441435" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442922" "00441436" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442923" "00441437" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442924" "00441438" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442925" "00441439" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442926" "00441440" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442927" "00441441" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442928" "00441442" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442929" "00441443" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442930" "00441444" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442931" "00441445" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442932" "00441446" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442933" "00441447" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442947" "00441461" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443119" "00441633" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443120" "00441634" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443121" "00441635" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443122" "00441636" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467122" "00465473" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467123" "00465474" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467124" "00465475" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000469414" "00467748" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472324" "00470657" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 87 "{{screeningid}}" "{{geneid}}" "0000117759" "TMPRSS3" "0000117760" "STRC" "0000117760" "TMPRSS3" "0000164080" "TECTA" "0000164399" "MYO15A" "0000286587" "TMPRSS3" "0000286588" "TMPRSS3" "0000286589" "TMPRSS3" "0000286590" "TMPRSS3" "0000286591" "TMPRSS3" "0000286592" "TMPRSS3" "0000286593" "TMPRSS3" "0000286594" "TMPRSS3" "0000286595" "TMPRSS3" "0000286596" "TMPRSS3" "0000286597" "TMPRSS3" "0000286598" "TMPRSS3" "0000286599" "TMPRSS3" "0000286600" "TMPRSS3" "0000286601" "TMPRSS3" "0000286602" "TMPRSS3" "0000286603" "TMPRSS3" "0000286604" "TMPRSS3" "0000286605" "TMPRSS3" "0000286606" "TMPRSS3" "0000286607" "TMPRSS3" "0000286608" "TMPRSS3" "0000286609" "TMPRSS3" "0000286610" "TMPRSS3" "0000286611" "TMPRSS3" "0000286612" "TMPRSS3" "0000286613" "TMPRSS3" "0000286614" "TMPRSS3" "0000286615" "TMPRSS3" "0000286616" "TMPRSS3" "0000286617" "TMPRSS3" "0000286618" "TMPRSS3" "0000286619" "TMPRSS3" "0000286620" "TMPRSS3" "0000286621" "TMPRSS3" "0000286622" "TMPRSS3" "0000286623" "TMPRSS3" "0000286624" "TMPRSS3" "0000286625" "TMPRSS3" "0000286626" "TMPRSS3" "0000286627" "TMPRSS3" "0000286628" "TMPRSS3" "0000286629" "TMPRSS3" "0000286630" "TMPRSS3" "0000286631" "TMPRSS3" "0000286632" "TMPRSS3" "0000286633" "TMPRSS3" "0000286634" "TMPRSS3" "0000286635" "TMPRSS3" "0000286636" "TMPRSS3" "0000286637" "TMPRSS3" "0000286638" "TMPRSS3" "0000286639" "TMPRSS3" "0000286640" "TMPRSS3" "0000286641" "TMPRSS3" "0000286642" "TMPRSS3" "0000286643" "TMPRSS3" "0000286644" "TMPRSS3" "0000286645" "TMPRSS3" "0000286646" "TMPRSS3" "0000286647" "TMPRSS3" "0000286648" "TMPRSS3" "0000286649" "TMPRSS3" "0000286650" "TMPRSS3" "0000286651" "TMPRSS3" "0000286652" "TMPRSS3" "0000286653" "TMPRSS3" "0000286654" "TMPRSS3" "0000286655" "TMPRSS3" "0000286656" "TMPRSS3" "0000286657" "TMPRSS3" "0000286658" "TMPRSS3" "0000286659" "TMPRSS3" "0000286660" "TMPRSS3" "0000286661" "TMPRSS3" "0000286662" "TMPRSS3" "0000286663" "TMPRSS3" "0000311014" "TMPRSS3" "0000381921" "TMPRSS3" "0000381922" "TMPRSS3" "0000381923" "TMPRSS3" "0000381924" "TMPRSS3" ## 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 = 206 "{{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}}" "0000129024" "1" "70" "21" "43802210" "43802210" "subst" "0.000143563" "01740" "TMPRSS3_000002" "g.43802210C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.42382101C>T" "" "likely pathogenic" "" "0000129025" "2" "70" "21" "43795896" "43795896" "subst" "0.000962562" "01740" "TMPRSS3_000001" "g.43795896C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.42375787C>T" "" "likely pathogenic" "" "0000188769" "3" "90" "21" "43808545" "43808545" "subst" "0.000917863" "00110" "TMPRSS3_000003" "g.43808545G>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs147231991" "0" "" "" "g.42388436G>T" "" "likely pathogenic" "" "0000188771" "0" "90" "21" "43809153" "43809153" "del" "0" "00110" "TMPRSS3_000004" "g.43809153del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "208delC" "" "Germline/De novo (untested)" "" "rs727503493" "0" "" "" "g.42389044del" "" "pathogenic" "" "0000188772" "0" "70" "21" "43795896" "43795896" "subst" "0.000962562" "00110" "TMPRSS3_000001" "g.43795896C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs56264519" "0" "" "" "g.42375787C>T" "" "pathogenic" "" "0000311906" "0" "10" "21" "43805656" "43805656" "subst" "0.475739" "02325" "TMPRSS3_000008" "g.43805656T>C" "" "" "" "TMPRSS3(NM_024022.4):c.447-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42385547T>C" "" "benign" "" "0000311907" "0" "10" "21" "43805637" "43805637" "subst" "0.358659" "02325" "TMPRSS3_000007" "g.43805637C>T" "" "" "" "TMPRSS3(NM_024022.4):c.453G>A (p.V151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42385528C>T" "" "benign" "" "0000316773" "0" "30" "21" "43796716" "43796716" "subst" "0.00164897" "01943" "TMPRSS3_000005" "g.43796716G>A" "" "" "" "TMPRSS3(NM_024022.2):c.1128C>T (p.Y376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42376607G>A" "" "likely benign" "" "0000316774" "0" "70" "21" "43795896" "43795896" "subst" "0.000962562" "01943" "TMPRSS3_000001" "g.43795896C>T" "" "" "" "TMPRSS3(NM_024022.2):c.1276G>A (p.A426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375787C>T" "" "likely pathogenic" "" "0000316775" "0" "90" "21" "43809153" "43809153" "del" "0" "01943" "TMPRSS3_000004" "g.43809153del" "" "" "" "TMPRSS3(NM_024022.2):c.208delC (p.H70Tfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42389044del" "" "pathogenic" "" "0000316776" "0" "50" "21" "43809089" "43809089" "subst" "2.03061E-5" "01943" "TMPRSS3_000014" "g.43809089G>A" "" "" "" "TMPRSS3(NM_024022.2):c.271C>T (p.R91*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388980G>A" "" "VUS" "" "0000316777" "0" "70" "21" "43809080" "43809080" "subst" "0.000198994" "01943" "TMPRSS3_000013" "g.43809080C>T" "" "" "" "TMPRSS3(NM_024022.2):c.280G>A (p.G94R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388971C>T" "" "likely pathogenic" "" "0000316778" "0" "50" "21" "43809064" "43809064" "subst" "2.84259E-5" "01943" "TMPRSS3_000012" "g.43809064T>C" "" "" "" "TMPRSS3(NM_024022.2):c.296A>G (p.K99R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388955T>C" "" "VUS" "" "0000316779" "0" "70" "21" "43809044" "43809044" "subst" "0.00019494" "01943" "TMPRSS3_000011" "g.43809044G>A" "" "" "" "TMPRSS3(NM_024022.2):c.316C>T (p.R106C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388935G>A" "" "likely pathogenic" "" "0000316780" "0" "70" "21" "43808641" "43808641" "subst" "4.8773E-5" "01943" "TMPRSS3_000010" "g.43808641C>T" "" "" "" "TMPRSS3(NM_024022.2):c.323-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388532C>T" "" "likely pathogenic" "" "0000316781" "0" "10" "21" "43808627" "43808627" "subst" "0.0935893" "01943" "TMPRSS3_000009" "g.43808627C>T" "" "" "" "TMPRSS3(NM_024022.2):c.331G>A (p.G111S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388518C>T" "" "benign" "" "0000316782" "0" "90" "21" "43808545" "43808545" "subst" "0.000917863" "01943" "TMPRSS3_000003" "g.43808545G>T" "" "" "" "TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388436G>T" "" "pathogenic" "" "0000316783" "0" "30" "21" "43802337" "43802337" "subst" "0.000258532" "01943" "TMPRSS3_000006" "g.43802337G>A" "" "" "" "TMPRSS3(NM_024022.2):c.789C>T (p.Y263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42382228G>A" "" "likely benign" "" "0000316784" "0" "90" "21" "43802210" "43802210" "subst" "0.000143563" "01943" "TMPRSS3_000002" "g.43802210C>T" "" "" "" "TMPRSS3(NM_024022.2):c.916G>A (p.A306T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42382101C>T" "" "pathogenic" "" "0000328666" "0" "50" "21" "43816047" "43816047" "subst" "1.30849E-5" "01804" "TMPRSS3_000016" "g.43816047T>A" "" "" "" "TMPRSS3(NM_001256317.1):c.-52+4A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42395938T>A" "" "VUS" "" "0000328667" "0" "50" "21" "43816048" "43816048" "subst" "1.30859E-5" "01804" "TMPRSS3_000017" "g.43816048C>A" "" "" "" "TMPRSS3(NM_001256317.1):c.-52+3G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42395939C>A" "" "VUS" "" "0000338099" "0" "90" "21" "43792890" "43792890" "subst" "0" "02327" "TMPRSS3_000019" "g.43792890T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42372781T>C" "" "pathogenic" "" "0000338100" "0" "10" "21" "43815560" "43815560" "subst" "0.0125503" "02327" "TMPRSS3_000029" "g.43815560C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42395451C>T" "" "benign" "" "0000338101" "0" "30" "21" "43815584" "43815584" "subst" "0.0530121" "02327" "TMPRSS3_000030" "g.43815584C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42395475C>G" "" "likely benign" "" "0000338102" "0" "10" "21" "43816173" "43816173" "subst" "9.59216E-5" "02327" "TMPRSS3_000032" "g.43816173A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42396064A>C" "" "benign" "" "0000341161" "0" "90" "21" "43808545" "43808545" "subst" "0.000917863" "02327" "TMPRSS3_000003" "g.43808545G>T" "" "" "" "TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388436G>T" "" "pathogenic" "" "0000341361" "0" "90" "21" "43802210" "43802210" "subst" "0.000143563" "02327" "TMPRSS3_000002" "g.43802210C>T" "" "" "" "TMPRSS3(NM_024022.2):c.916G>A (p.A306T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42382101C>T" "" "pathogenic" "" "0000341436" "0" "70" "21" "43795896" "43795896" "subst" "0.000962562" "02327" "TMPRSS3_000001" "g.43795896C>T" "" "" "" "TMPRSS3(NM_024022.2):c.1276G>A (p.A426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375787C>T" "" "likely pathogenic" "" "0000341623" "0" "10" "21" "43809092" "43809092" "subst" "0.031826" "02327" "TMPRSS3_000027" "g.43809092C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388983C>T" "" "benign" "" "0000345651" "0" "10" "21" "43808627" "43808627" "subst" "0.0935893" "02327" "TMPRSS3_000009" "g.43808627C>T" "" "" "" "TMPRSS3(NM_024022.2):c.331G>A (p.G111S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42388518C>T" "" "benign" "" "0000346515" "0" "90" "21" "43809153" "43809153" "del" "0" "02327" "TMPRSS3_000004" "g.43809153del" "" "" "" "TMPRSS3(NM_024022.2):c.208delC (p.H70Tfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42389044del" "" "pathogenic" "" "0000346652" "0" "10" "21" "43803167" "43803167" "subst" "0.155545" "02327" "TMPRSS3_000023" "g.43803167T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42383058T>C" "" "benign" "" "0000350065" "0" "10" "21" "43796716" "43796716" "subst" "0.00164897" "02327" "TMPRSS3_000005" "g.43796716G>A" "" "" "" "TMPRSS3(NM_024022.2):c.1128C>T (p.Y376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42376607G>A" "" "benign" "" "0000350310" "0" "10" "21" "43805637" "43805637" "subst" "0.358659" "02327" "TMPRSS3_000007" "g.43805637C>T" "" "" "" "TMPRSS3(NM_024022.4):c.453G>A (p.V151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42385528C>T" "" "benign" "" "0000350378" "0" "70" "21" "43804100" "43804100" "subst" "4.06263E-6" "02327" "TMPRSS3_000026" "g.43804100C>T" "" "" "" "TMPRSS3(NM_024022.2):c.595G>A (p.V199M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42383991C>T" "" "likely pathogenic" "" "0000350583" "0" "10" "21" "43810084" "43810084" "subst" "0.0753058" "02327" "TMPRSS3_000028" "g.43810084C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42389975C>T" "" "benign" "" "0000351197" "0" "10" "21" "43792869" "43792869" "subst" "0.23744" "02327" "TMPRSS3_000018" "g.43792869C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42372760C>T" "" "benign" "" "0000351198" "0" "10" "21" "43795814" "43795814" "subst" "4.06243E-5" "02327" "TMPRSS3_000020" "g.43795814G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375705G>A" "" "benign" "" "0000351199" "0" "30" "21" "43796636" "43796636" "subst" "0" "02327" "TMPRSS3_000021" "g.43796636C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42376527C>T" "" "likely benign" "" "0000351201" "0" "10" "21" "43803325" "43803325" "subst" "0.00845843" "02327" "TMPRSS3_000025" "g.43803325G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42383216G>A" "" "benign" "" "0000351202" "0" "10" "21" "43805656" "43805656" "subst" "0.475739" "02327" "TMPRSS3_000008" "g.43805656T>C" "" "" "" "TMPRSS3(NM_024022.4):c.447-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42385547T>C" "" "benign" "" "0000351203" "0" "10" "21" "43816130" "43816130" "subst" "0.0063428" "02327" "TMPRSS3_000031" "g.43816130C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42396021C>G" "" "benign" "" "0000351204" "0" "10" "21" "43816197" "43816197" "subst" "0.0041967" "02327" "TMPRSS3_000033" "g.43816197C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42396088C>T" "" "benign" "" "0000570679" "0" "70" "21" "43795866" "43795866" "subst" "3.65536E-5" "02327" "TMPRSS3_000034" "g.43795866G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375757G>A" "" "likely pathogenic" "" "0000570680" "0" "30" "21" "43795897" "43795897" "subst" "0.00039095" "01943" "TMPRSS3_000035" "g.43795897G>A" "" "" "" "TMPRSS3(NM_024022.2):c.1275C>T (p.C425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375788G>A" "" "likely benign" "" "0000570681" "0" "30" "21" "43796722" "43796722" "subst" "0.00134837" "01943" "TMPRSS3_000036" "g.43796722G>A" "" "" "" "TMPRSS3(NM_024022.2):c.1122C>T (p.D374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42376613G>A" "" "likely benign" "" "0000570682" "0" "90" "21" "43803308" "43803308" "subst" "0" "02327" "TMPRSS3_000037" "g.43803308C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42383199C>A" "" "pathogenic" "" "0000570683" "0" "90" "21" "43804100" "43804100" "subst" "4.06263E-6" "01943" "TMPRSS3_000026" "g.43804100C>T" "" "" "" "TMPRSS3(NM_024022.2):c.595G>A (p.V199M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42383991C>T" "" "pathogenic" "" "0000570684" "0" "50" "21" "43808522" "43808522" "subst" "4.06246E-6" "02327" "TMPRSS3_000038" "g.43808522C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42388413C>T" "" "VUS" "" "0000570685" "0" "90" "21" "43808633" "43808633" "subst" "0.000134083" "01943" "TMPRSS3_000039" "g.43808633G>A" "" "" "" "TMPRSS3(NM_024022.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42388524G>A" "" "pathogenic" "" "0000570686" "0" "30" "21" "43815480" "43815480" "subst" "6.49709E-5" "01943" "TMPRSS3_000040" "g.43815480C>T" "" "" "" "TMPRSS3(NM_024022.2):c.47G>A (p.R16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42395371C>T" "" "likely benign" "" "0000618368" "0" "50" "21" "43803170" "43803170" "subst" "0" "02327" "TMPRSS3_000041" "g.43803170T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42383061T>C" "" "VUS" "" "0000618369" "0" "30" "21" "43809073" "43809073" "subst" "0.000190874" "01943" "TMPRSS3_000045" "g.43809073G>A" "" "" "" "TMPRSS3(NM_024022.2):c.287C>T (p.S96L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42388964G>A" "" "likely benign" "" "0000618370" "0" "30" "21" "43809147" "43809147" "subst" "6.50216E-5" "01943" "TMPRSS3_000046" "g.43809147G>A" "" "" "" "TMPRSS3(NM_024022.2):c.213C>T (p.F71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42389038G>A" "" "likely benign" "" "0000618371" "0" "50" "21" "43810080" "43810080" "subst" "3.24849E-5" "02327" "TMPRSS3_000047" "g.43810080A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42389971A>G" "" "VUS" "" "0000618372" "0" "90" "21" "43815481" "43815481" "subst" "1.21819E-5" "02327" "TMPRSS3_000015" "g.43815481G>A" "" "" "" "TMPRSS3(NM_024022.4):c.46C>T (p.R16*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42395372G>A" "" "pathogenic" "" "0000624219" "0" "90" "21" "43804116" "43804116" "dup" "0" "01943" "TMPRSS3_000042" "g.43804116dup" "" "" "" "TMPRSS3(NM_024022.2):c.579dupA (p.C194Mfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42384007dup" "" "pathogenic" "" "0000624220" "0" "30" "21" "43805593" "43805593" "subst" "0.000670013" "01943" "TMPRSS3_000043" "g.43805593C>A" "" "" "" "TMPRSS3(NM_024022.2):c.497G>T (p.R166L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42385484C>A" "" "likely benign" "" "0000624221" "0" "50" "21" "43808587" "43808587" "subst" "8.12209E-6" "01943" "TMPRSS3_000044" "g.43808587G>A" "" "" "" "TMPRSS3(NM_024022.2):c.371C>T (p.S124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42388478G>A" "" "VUS" "" "0000642329" "1" "55" "21" "43795829" "43795829" "subst" "1.62462E-5" "00004" "TMPRSS3_000048" "g.43795829A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375720A>G" "" "VUS" "" "0000642330" "1" "77" "21" "43795836" "43795836" "subst" "8.12354E-6" "00004" "TMPRSS3_000049" "g.43795836C>T" "" "{DB:DVD}, {PMID:Charif 2012:22382023}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375727C>T" "" "likely pathogenic" "" "0000642331" "1" "77" "21" "43795866" "43795866" "subst" "3.65536E-5" "00004" "TMPRSS3_000034" "g.43795866G>A" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375757G>A" "" "likely pathogenic" "" "0000642332" "1" "99" "21" "43795881" "43795881" "subst" "2.43706E-5" "00004" "TMPRSS3_000050" "g.43795881G>A" "" "{DB:DVD}, {PMID:Vozzi 2014:24657061}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375772G>A" "" "pathogenic" "" "0000642333" "1" "77" "21" "43795893" "43795893" "subst" "0" "00004" "TMPRSS3_000051" "g.43795893C>T" "" "{DB:DVD}, {PMID:Charif 2012:22382023}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375784C>T" "" "likely pathogenic" "" "0000642334" "1" "99" "21" "43795896" "43795896" "subst" "0.000962562" "00004" "TMPRSS3_000001" "g.43795896C>T" "" "{DB:DVD}, {PMID:Weegerink 2011:21786053}, {PMID:Wattenhofer 2002:11907649}, {PMID:Shearer 1993:20301607}, {PMID:Richards 2015:25741868}, {PMID:Lee 2003:12920079}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375787C>T" "" "pathogenic" "" "0000642335" "1" "33" "21" "43795897" "43795897" "subst" "0.00039095" "00004" "TMPRSS3_000035" "g.43795897G>A" "" "{DB:DVD}, {PMID:Wattenhofer 2002:11907649}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375788G>A" "" "likely benign" "" "0000642336" "1" "99" "21" "43795899" "43795899" "subst" "0" "00004" "TMPRSS3_000052" "g.43795899A>G" "" "{DB:DVD}, {PMID:Lee 2012:21534946}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375790A>G" "" "pathogenic" "" "0000642337" "1" "99" "21" "43795953" "43795953" "subst" "3.24926E-5" "00004" "TMPRSS3_000053" "g.43795953A>G" "" "{DB:DVD}, {PMID:Lee 2003:12920079}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375844A>G" "" "pathogenic" "" "0000642338" "1" "99" "21" "43795961" "43795961" "subst" "1.21853E-5" "00004" "TMPRSS3_000054" "g.43795961G>A" "" "{DB:DVD}, {PMID:Masmoudi 2001:11462234}, {PMID:Wattenhofer 2005:16021470}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2003:12920079}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375852G>A" "" "pathogenic" "" "0000642339" "1" "55" "21" "43795972" "43795972" "subst" "4.47027E-5" "00004" "TMPRSS3_000055" "g.43795972G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375863G>C" "" "VUS" "" "0000642340" "1" "99" "21" "43795978" "43795978" "subst" "0" "00004" "TMPRSS3_000056" "g.43795978C>G" "" "{DB:DVD}, {PMID:Imtiaz 2011:21726435}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42375869C>G" "" "pathogenic" "" "0000642341" "1" "33" "21" "43796639" "43796639" "subst" "5.3118E-5" "00004" "TMPRSS3_000057" "g.43796639C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376530C>T" "" "likely benign" "" "0000642342" "1" "99" "21" "43796652" "43796652" "subst" "0" "00004" "TMPRSS3_000058" "g.43796652G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Wattenhofer 2005:16021470}, {PMID:Duzkale 2013:24033266}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376543G>A" "" "pathogenic" "" "0000642343" "1" "55" "21" "43796661" "43796661" "subst" "4.06848E-6" "00004" "TMPRSS3_000059" "g.43796661C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376552C>G" "" "VUS" "" "0000642344" "1" "99" "21" "43796685" "43796685" "subst" "2.03207E-5" "00004" "TMPRSS3_000060" "g.43796685C>T" "" "{DB:DVD}, {PMID:Miyagawa 2013:24130743}, {PMID:Miyagawa 2015:25770132}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376576C>T" "" "pathogenic" "" "0000642345" "1" "99" "21" "43796688" "43796688" "subst" "0" "00004" "TMPRSS3_000061" "g.43796688A>G" "" "{DB:DVD}, {PMID:Ganapathy 2014:24416283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376579A>G" "" "pathogenic" "" "0000642346" "1" "55" "21" "43796692" "43796692" "subst" "0" "00004" "TMPRSS3_000062" "g.43796692C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376583C>A" "" "VUS" "" "0000642347" "1" "11" "21" "43796716" "43796716" "subst" "0.00164897" "00004" "TMPRSS3_000005" "g.43796716G>A" "" "{DB:DVD}, {PMID:Ben-Yosef 2001:11424922}, {PMID:Wattenhofer 2002:11907649}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376607G>A" "" "benign" "" "0000642348" "1" "55" "21" "43796754" "43796754" "subst" "0" "00004" "TMPRSS3_000063" "g.43796754A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376645A>C" "" "VUS" "" "0000642349" "1" "33" "21" "43796788" "43796788" "subst" "2.84567E-5" "00004" "TMPRSS3_000064" "g.43796788G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42376679G>A" "" "likely benign" "" "0000642350" "1" "33" "21" "43800232" "43800232" "subst" "0.00069938" "00004" "TMPRSS3_000065" "g.43800232C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42380123C>T" "" "likely benign" "" "0000642351" "1" "99" "21" "43800249" "43800249" "subst" "8.12625E-6" "00004" "TMPRSS3_000066" "g.43800249C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duman 2011:21117948}, {PMID:Duzkale 2013:24033266}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42380140C>T" "" "pathogenic" "" "0000642352" "1" "33" "21" "43800254" "43800254" "subst" "3.25045E-5" "00004" "TMPRSS3_000067" "g.43800254C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42380145C>T" "" "likely benign" "" "0000642353" "1" "99" "21" "43800255" "43800255" "subst" "0" "00004" "TMPRSS3_000068" "g.43800255G>C" "" "{DB:DVD}, {PMID:Vozzi 2014:24657061}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42380146G>C" "" "pathogenic" "" "0000642354" "1" "33" "21" "43800281" "43800281" "subst" "0.000150293" "00004" "TMPRSS3_000069" "g.43800281G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42380172G>A" "" "likely benign" "" "0000642355" "1" "99" "21" "43800285" "43800285" "del" "0" "00004" "TMPRSS3_000070" "g.43800285del" "" "{DB:DVD}, {PMID:Walsh 2006:16460646}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42380176del" "" "pathogenic" "" "0000642356" "1" "33" "21" "43800299" "43800299" "subst" "8.53152E-5" "00004" "TMPRSS3_000071" "g.43800299C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42380190C>A" "" "likely benign" "" "0000642357" "1" "55" "21" "43802178" "43802178" "subst" "0" "00004" "TMPRSS3_000072" "g.43802178G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42382069G>C" "" "VUS" "" "0000642358" "1" "99" "21" "43802210" "43802210" "subst" "0.000143563" "00004" "TMPRSS3_000002" "g.43802210C>T" "" "{DB:DVD}, {PMID:Weegerink 2011:21786053}, {PMID:Schrauwen 2013:23208854}, {PMID:Shearer 1993:20301607}, {PMID:Chung 2014:24526180}, {PMID:Elbracht 2007:17551081}, {PMID:Lee 2013:23958653}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42382101C>T" "" "pathogenic" "" "0000642359" "1" "33" "21" "43802337" "43802337" "subst" "0.000258532" "00004" "TMPRSS3_000006" "g.43802337G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42382228G>A" "" "likely benign" "" "0000642360" "1" "33" "21" "43802343" "43802343" "subst" "1.64187E-5" "00004" "TMPRSS3_000073" "g.43802343G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42382234G>A" "" "likely benign" "" "0000642361" "1" "99" "21" "43803153" "43803153" "subst" "0" "00004" "TMPRSS3_000074" "g.43803153G>C" "" "{DB:DVD}, {PMID:Miyagawa 2015:25770132}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383044G>C" "" "pathogenic" "" "0000642362" "1" "99" "21" "43803157" "43803157" "subst" "8.13015E-6" "00004" "TMPRSS3_000075" "g.43803157G>A" "" "{DB:DVD}, {PMID:Lee 2012:21534946}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383048G>A" "" "pathogenic" "" "0000642363" "1" "99" "21" "43803171" "43803171" "subst" "0" "00004" "TMPRSS3_000076" "g.43803171C>G" "" "{DB:DVD}, {PMID:Masmoudi 2001:11462234}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2003:12920079}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383062C>G" "" "pathogenic" "" "0000642364" "1" "99" "21" "43803181" "43803181" "subst" "5.68787E-5" "00004" "TMPRSS3_000077" "g.43803181G>A" "" "{DB:DVD}, {PMID:Chung 2014:24526180}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383072G>A" "" "pathogenic" "" "0000642365" "1" "55" "21" "43803193" "43803193" "subst" "4.06299E-6" "00004" "TMPRSS3_000078" "g.43803193C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383084C>A" "" "VUS" "" "0000642366" "1" "99" "21" "43803197" "43803197" "subst" "2.4377E-5" "00004" "TMPRSS3_000079" "g.43803197C>T" "" "{DB:DVD}, {PMID:Ganapathy 2014:24416283}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383088C>T" "" "pathogenic" "" "0000642367" "1" "99" "21" "43803198" "43803198" "subst" "0" "00004" "TMPRSS3_000080" "g.43803198G>C" "" "{DB:DVD}, {PMID:Shafique 2014:24949729}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383089G>C" "" "pathogenic" "" "0000642368" "1" "99" "21" "43803277" "43803277" "subst" "1.21865E-5" "00004" "TMPRSS3_000081" "g.43803277C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383168C>T" "" "pathogenic" "" "0000642369" "1" "99" "21" "43803277" "43803277" "subst" "0" "00004" "TMPRSS3_000082" "g.43803277C>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Wattenhofer 2005:16021470}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383168C>A" "" "pathogenic" "" "0000642370" "1" "99" "21" "43803278" "43803278" "subst" "2.03108E-5" "00004" "TMPRSS3_000083" "g.43803278G>A" "" "{DB:DVD}, {PMID:Elbracht 2007:17551081}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383169G>A" "" "pathogenic" "" "0000642371" "1" "55" "21" "43804074" "43804074" "subst" "0.000178716" "00004" "TMPRSS3_000084" "g.43804074C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383965C>T" "" "VUS" "" "0000642372" "1" "99" "21" "43804088" "43804088" "subst" "0" "00004" "TMPRSS3_000085" "g.43804088G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:24130743}, {PMID:Miyagawa 2015:25770132}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383979G>A" "" "pathogenic" "" "0000642373" "1" "99" "21" "43804100" "43804100" "subst" "4.06263E-6" "00004" "TMPRSS3_000026" "g.43804100C>T" "" "{DB:DVD}, {PMID:Weegerink 2011:21786053}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42383991C>T" "" "pathogenic" "" "0000642374" "1" "99" "21" "43804113" "43804113" "subst" "0" "00004" "TMPRSS3_000086" "g.43804113A>T" "" "{DB:DVD}, {PMID:Shahin 2010:19888295}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42384004A>T" "" "pathogenic" "" "0000642375" "1" "99" "21" "43804114" "43804115" "ins" "0" "00004" "TMPRSS3_000088" "g.43804114_43804115insT" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42384005_42384006insT" "" "pathogenic" "" "0000642376" "1" "99" "21" "43804114" "43804114" "subst" "4.06382E-6" "00004" "TMPRSS3_000087" "g.43804114C>A" "" "{DB:DVD}, {PMID:Ben-Yosef 2001:11424922}, {PMID:Lee 2003:12920079}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42384005C>A" "" "pathogenic" "" "0000642377" "1" "99" "21" "43804116" "43804116" "dup" "0" "00004" "TMPRSS3_000042" "g.43804116dup" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42384007dup" "" "pathogenic" "" "0000642378" "1" "99" "21" "43805536" "43805536" "subst" "0" "00004" "TMPRSS3_000089" "g.43805536T>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42385427T>A" "" "pathogenic" "" "0000642379" "1" "99" "21" "43805555" "43805555" "subst" "0" "00004" "TMPRSS3_000090" "g.43805555C>T" "" "{DB:DVD}, {PMID:Fan 2014:25474651}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42385446C>T" "" "pathogenic" "" "0000642380" "1" "55" "21" "43805593" "43805593" "subst" "0.000670013" "00004" "TMPRSS3_000043" "g.43805593C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42385484C>A" "" "VUS" "" "0000642381" "1" "33" "21" "43808503" "43808503" "subst" "0" "00004" "TMPRSS3_000091" "g.43808503T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388394T>C" "" "likely benign" "" "0000642382" "1" "55" "21" "43808508" "43808508" "subst" "1.21903E-5" "00004" "TMPRSS3_000092" "g.43808508T>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388399T>A" "" "VUS" "" "0000642383" "1" "99" "21" "43808545" "43808545" "subst" "0.000917863" "00004" "TMPRSS3_000003" "g.43808545G>T" "" "{DB:DVD}, {PMID:Hutchin 2005:16283880}, {PMID:Eppsteiner 2012:22975204}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388436G>T" "" "pathogenic" "" "0000642384" "1" "55" "21" "43808546" "43808546" "subst" "0.000576701" "00004" "TMPRSS3_000093" "g.43808546C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388437C>T" "" "VUS" "" "0000642385" "1" "33" "21" "43808611" "43808611" "subst" "0.000129972" "00004" "TMPRSS3_000094" "g.43808611A>G" "" "{DB:DVD}, {PMID:Bonnet 2011:21569298}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388502A>G" "" "likely benign" "" "0000642386" "1" "99" "21" "43808612" "43808612" "subst" "5.28035E-5" "00004" "TMPRSS3_000095" "g.43808612C>T" "" "{DB:DVD}, {PMID:Ganapathy 2014:24416283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388503C>T" "" "pathogenic" "" "0000642387" "1" "33" "21" "43808625" "43808625" "subst" "0" "00004" "TMPRSS3_000096" "g.43808625A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388516A>G" "" "likely benign" "" "0000642388" "1" "99" "21" "43808633" "43808633" "subst" "0.000134083" "00004" "TMPRSS3_000039" "g.43808633G>A" "" "{DB:DVD}, {PMID:Guipponi 2002:12393794}, {PMID:Shearer 1993:20301607}, {PMID:Andreasen 2006:16524950}, {PMID:Duzkale 2013:24033266}, {PMID:Ben-Yosef 2001:11424922}, {PMID:Lee 2003:12920079}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388524G>A" "" "pathogenic" "" "0000642389" "1" "99" "21" "43808641" "43808641" "subst" "4.8773E-5" "00004" "TMPRSS3_000010" "g.43808641C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388532C>T" "" "pathogenic" "" "0000642390" "1" "99" "21" "43809044" "43809044" "subst" "0.00019494" "00004" "TMPRSS3_000011" "g.43809044G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388935G>A" "" "pathogenic" "" "0000642391" "1" "99" "21" "43809050" "43809050" "subst" "0" "00004" "TMPRSS3_000097" "g.43809050C>A" "" "{DB:DVD}, {PMID:Lee 2012:21534946}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388941C>A" "" "pathogenic" "" "0000642392" "1" "99" "21" "43809050" "43809050" "subst" "8.12203E-6" "00004" "TMPRSS3_000098" "g.43809050C>T" "" "{DB:DVD}, {PMID:Lee 2012:21534946}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388941C>T" "" "pathogenic" "" "0000642393" "1" "33" "21" "43809051" "43809051" "subst" "6.09172E-5" "00004" "TMPRSS3_000099" "g.43809051G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388942G>A" "" "likely benign" "" "0000642394" "1" "99" "21" "43809052" "43809052" "subst" "0" "00004" "TMPRSS3_000100" "g.43809052T>C" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Wattenhofer 2002:11907649}, {PMID:Lee 2003:12920079}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388943T>C" "" "pathogenic" "" "0000642395" "1" "33" "21" "43809060" "43809060" "subst" "8.12249E-5" "00004" "TMPRSS3_000101" "g.43809060G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388951G>A" "" "likely benign" "" "0000642396" "1" "55" "21" "43809062" "43809062" "subst" "2.84264E-5" "00004" "TMPRSS3_000102" "g.43809062C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388953C>G" "" "VUS" "" "0000642397" "1" "99" "21" "43809080" "43809080" "subst" "0.000198994" "00004" "TMPRSS3_000013" "g.43809080C>T" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388971C>T" "" "pathogenic" "" "0000642398" "1" "33" "21" "43809081" "43809081" "subst" "0.000146202" "00004" "TMPRSS3_000103" "g.43809081G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388972G>A" "" "likely benign" "" "0000642399" "1" "55" "21" "43809088" "43809088" "subst" "4.06121E-6" "00004" "TMPRSS3_000104" "g.43809088C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388979C>T" "" "VUS" "" "0000642400" "1" "55" "21" "43809103" "43809103" "subst" "0" "00004" "TMPRSS3_000105" "g.43809103A>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42388994A>T" "" "VUS" "" "0000642401" "1" "33" "21" "43809121" "43809121" "subst" "0.000312777" "00004" "TMPRSS3_000106" "g.43809121C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42389012C>T" "" "likely benign" "" "0000642402" "1" "55" "21" "43809126" "43809126" "subst" "0" "00004" "TMPRSS3_000107" "g.43809126T>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42389017T>G" "" "VUS" "" "0000642403" "1" "99" "21" "43809153" "43809153" "del" "0" "00004" "TMPRSS3_000004" "g.43809153del" "" "{DB:DVD}, {PMID:Weegerink 2011:21786053}, {PMID:Kecmanovi? 2009:19170735}, {PMID:Ahmed 2004:15447792}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2012:21534946}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42389044del" "" "pathogenic" "" "0000642404" "1" "77" "21" "43815481" "43815481" "subst" "1.21819E-5" "00004" "TMPRSS3_000015" "g.43815481G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42395372G>A" "" "likely pathogenic" "" "0000642405" "1" "99" "21" "43815495" "43815495" "dup" "0" "00004" "TMPRSS3_000108" "g.43815495dup" "" "{DB:DVD}, {PMID:Diaz-Horta 2012:23226338}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42395386dup" "" "pathogenic" "" "0000650857" "1" "70" "21" "43795896" "43795896" "subst" "0.000962562" "03575" "TMPRSS3_000001" "g.43795896C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs56264519}" "Germline" "" "rs56264519" "0" "" "" "g.42375787C>T" "" "likely pathogenic" "" "0000650858" "1" "90" "21" "43796652" "43796652" "subst" "0" "03575" "TMPRSS3_000058" "g.43796652G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs727504304}" "Germline" "" "rs727504304" "0" "" "" "g.42376543G>A" "" "pathogenic" "" "0000650859" "1" "90" "21" "43802210" "43802210" "subst" "0.000143563" "03575" "TMPRSS3_000002" "g.43802210C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs181949335}" "Germline" "" "rs181949335" "0" "" "" "g.42382101C>T" "" "pathogenic" "" "0000650860" "1" "70" "21" "43808545" "43808545" "subst" "0.000917863" "03575" "TMPRSS3_000003" "g.43808545G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs147231991}" "Germline" "" "rs147231991" "0" "" "" "g.42388436G>T" "" "likely pathogenic" "" "0000650861" "1" "90" "21" "43808641" "43808641" "subst" "4.8773E-5" "03575" "TMPRSS3_000010" "g.43808641C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs374793617}" "Germline" "" "rs374793617" "0" "" "" "g.42388532C>T" "" "pathogenic" "" "0000650862" "1" "70" "21" "43809044" "43809044" "subst" "0.00019494" "03575" "TMPRSS3_000011" "g.43809044G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139805921}" "Germline" "" "rs139805921" "0" "" "" "g.42388935G>A" "" "likely pathogenic" "" "0000650863" "1" "10" "21" "43809092" "43809092" "subst" "0.031826" "03575" "TMPRSS3_000027" "g.43809092C>T" "35/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs45598239}" "Germline" "" "rs45598239" "0" "" "" "g.42388983C>T" "" "benign" "" "0000650864" "1" "50" "21" "43809148" "43809148" "subst" "0.000739489" "03575" "TMPRSS3_000109" "g.43809148A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs185332310}" "Germline" "" "rs185332310" "0" "" "" "g.42389039A>G" "" "VUS" "" "0000650865" "1" "30" "21" "43810084" "43810084" "subst" "0.0753058" "03575" "TMPRSS3_000028" "g.43810084C>T" "225/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "225 heterozygous; {DB:CLININrs928302}" "Germline" "" "rs928302" "0" "" "" "g.42389975C>T" "" "likely benign" "" "0000669693" "3" "30" "21" "43810084" "43810084" "subst" "0.0753058" "03575" "TMPRSS3_000028" "g.43810084C>T" "14/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 homozygous; {DB:CLININrs928302}" "Germline" "" "rs928302" "0" "" "" "g.42389975C>T" "" "likely benign" "" "0000681722" "0" "70" "21" "43803278" "43803278" "subst" "2.03108E-5" "02327" "TMPRSS3_000083" "g.43803278G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681723" "0" "30" "21" "43805611" "43805611" "subst" "4.06055E-6" "01943" "TMPRSS3_000110" "g.43805611G>A" "" "" "" "TMPRSS3(NM_024022.2):c.479C>T (p.S160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686164" "1" "90" "21" "43809152" "43809152" "del" "0.000438885" "00006" "TMPRSS3_000004" "g.43809152del" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686184" "2" "50" "21" "43796693" "43796693" "subst" "2.4377E-5" "00006" "TMPRSS3_000111" "g.43796693A>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000693051" "0" "30" "21" "43802193" "43802193" "subst" "0.000442993" "01943" "TMPRSS3_000112" "g.43802193G>A" "" "" "" "TMPRSS3(NM_024022.2):c.933C>T (p.A311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694113" "0" "70" "21" "43795896" "43795896" "subst" "0.000962562" "00006" "TMPRSS3_000001" "g.43795896C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694114" "0" "70" "21" "43795948" "43795948" "del" "0" "00006" "TMPRSS3_000113" "g.43795948del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "1224delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000698973" "0" "70" "21" "43795967" "43795967" "subst" "4.06296E-6" "03779" "TMPRSS3_000114" "g.43795967C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs777302040" "0" "" "" "" "" "likely pathogenic" "" "0000708714" "0" "70" "21" "43795866" "43795866" "subst" "3.65536E-5" "03779" "TMPRSS3_000034" "g.43795866G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs565348874" "0" "" "" "" "" "likely pathogenic" "" "0000712303" "0" "50" "21" "43803137" "43803137" "subst" "0" "03611" "TMPRSS3_000115" "g.43803137G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.42383028C>T" "" "VUS" "ACMG" "0000727918" "0" "50" "21" "43805594" "43805594" "subst" "0.000129939" "02327" "TMPRSS3_000116" "g.43805594G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727919" "0" "90" "21" "43809080" "43809080" "subst" "0" "01943" "TMPRSS3_000117" "g.43809080C>A" "" "" "" "TMPRSS3(NM_024022.2):c.280G>T (p.G94*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727920" "0" "90" "21" "43815481" "43815481" "subst" "1.21819E-5" "02329" "TMPRSS3_000015" "g.43815481G>A" "" "" "" "TMPRSS3(NM_024022.4):c.46C>T (p.R16*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000784120" "0" "70" "21" "43809044" "43809044" "subst" "0.00019494" "03779" "TMPRSS3_000011" "g.43809044G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs139805921" "0" "" "" "" "" "likely pathogenic" "" "0000795493" "1" "90" "21" "43795896" "43795896" "subst" "0.000962562" "04006" "TMPRSS3_000001" "g.43795896C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792227}" "pathogenic (recessive)" "ACMG" "0000795494" "0" "90" "21" "43802210" "43802210" "subst" "0.000143563" "04006" "TMPRSS3_000002" "g.43802210C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792228}" "pathogenic (recessive)" "ACMG" "0000795495" "1" "90" "21" "43795896" "43795896" "subst" "0.000962562" "04006" "TMPRSS3_000001" "g.43795896C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792227}" "pathogenic (recessive)" "ACMG" "0000795496" "2" "90" "21" "43802210" "43802210" "subst" "0.000143563" "04006" "TMPRSS3_000002" "g.43802210C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792228}" "pathogenic (recessive)" "ACMG" "0000795497" "1" "90" "21" "43795896" "43795896" "subst" "0.000962562" "04006" "TMPRSS3_000001" "g.43795896C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792227}" "pathogenic (recessive)" "ACMG" "0000795498" "2" "90" "21" "43802210" "43802210" "subst" "0.000143563" "04006" "TMPRSS3_000002" "g.43802210C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792228}" "pathogenic (recessive)" "ACMG" "0000795499" "21" "90" "21" "43808612" "43808612" "subst" "5.28035E-5" "04006" "TMPRSS3_000095" "g.43808612C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792229}" "pathogenic (recessive)" "ACMG" "0000795500" "11" "90" "21" "43808545" "43808545" "subst" "0.000917863" "04006" "TMPRSS3_000003" "g.43808545G>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792230}" "pathogenic (recessive)" "ACMG" "0000796639" "0" "50" "21" "43805594" "43805594" "subst" "0.000129939" "03779" "TMPRSS3_000116" "g.43805594G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs781395690" "0" "" "" "" "" "VUS" "" "0000818625" "0" "70" "21" "43805594" "43805594" "subst" "0.000129939" "03779" "TMPRSS3_000116" "g.43805594G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs781395690" "0" "" "" "" "" "likely pathogenic" "" "0000839366" "0" "30" "21" "43809148" "43809148" "subst" "0.000739489" "03779" "TMPRSS3_000109" "g.43809148A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs185332310" "0" "" "" "" "" "likely benign" "" "0000866634" "0" "50" "21" "43795972" "43795972" "subst" "4.47027E-5" "02327" "TMPRSS3_000055" "g.43795972G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866635" "0" "90" "21" "43802344" "43802344" "subst" "0" "02327" "TMPRSS3_000118" "g.43802344C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915456" "0" "90" "21" "43800265" "43800265" "del" "4.06223E-6" "02327" "TMPRSS3_000119" "g.43800265del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927081" "0" "70" "21" "43803181" "43803181" "subst" "5.68787E-5" "02327" "TMPRSS3_000077" "g.43803181G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000943900" "3" "70" "21" "43805539" "43805539" "subst" "1.62422E-5" "00006" "TMPRSS3_000120" "g.43805539A>G" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.42385430A>G" "" "likely pathogenic (recessive)" "ACMG" "0000943901" "3" "90" "21" "43808527" "43808527" "del" "0" "00006" "TMPRSS3_000121" "g.43808527del" "" "{PMID:Sang 2019:31379920}" "" "432delA" "" "Germline" "" "" "0" "" "" "g.42388418del" "" "pathogenic (recessive)" "ACMG" "0000944246" "3" "90" "21" "43809089" "43809089" "subst" "2.03061E-5" "00006" "TMPRSS3_000014" "g.43809089G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42388980G>A" "" "pathogenic (recessive)" "" "0000944247" "3" "90" "21" "43809089" "43809089" "subst" "2.03061E-5" "00006" "TMPRSS3_000014" "g.43809089G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42388980G>A" "" "pathogenic (recessive)" "" "0000944248" "3" "90" "21" "43808641" "43808641" "subst" "4.8773E-5" "00006" "TMPRSS3_000010" "g.43808641C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42388532C>T" "" "pathogenic (recessive)" "" "0000944249" "3" "90" "21" "43804114" "43804114" "subst" "4.06382E-6" "00006" "TMPRSS3_000087" "g.43804114C>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42384005C>A" "" "pathogenic (recessive)" "" "0000944250" "3" "90" "21" "43803157" "43803157" "subst" "8.13015E-6" "00006" "TMPRSS3_000075" "g.43803157G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42383048G>A" "" "pathogenic (recessive)" "" "0000944251" "3" "90" "21" "43803157" "43803157" "subst" "8.13015E-6" "00006" "TMPRSS3_000075" "g.43803157G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42383048G>A" "" "pathogenic (recessive)" "" "0000944252" "3" "90" "21" "43802344" "43802344" "subst" "0" "00006" "TMPRSS3_000118" "g.43802344C>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.42382235C>A" "" "pathogenic (recessive)" "ACMG" "0000944253" "3" "90" "21" "43795953" "43795953" "subst" "3.24926E-5" "00006" "TMPRSS3_000053" "g.43795953A>G" "" "{PMID:Richard 2019: 30303587}" 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"g.43809153del" "" "{PMID:Wattenhofer 2002:11907649}, {PMID:Naz 2017:27573290}" "" "208delC" "" "Germline" "" "rs727503493" "0" "" "" "g.42389044del" "" "pathogenic (recessive)" "" "0000944502" "3" "90" "21" "43795953" "43795953" "subst" "3.24926E-5" "00006" "TMPRSS3_000053" "g.43795953A>G" "" "{PMID:Ben-Yosef 2001:11424922}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs773780151" "0" "" "" "g.42375844A>G" "" "pathogenic (recessive)" "" "0000944503" "3" "90" "21" "43808641" "43808641" "subst" "4.8773E-5" "00006" "TMPRSS3_000010" "g.43808641C>T" "" "{PMID:Scott 2001:11137999}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.42388532C>T" "" "pathogenic (recessive)" "" "0000944504" "3" "90" "21" "43808641" "43808641" "subst" "4.8773E-5" "00006" "TMPRSS3_000010" "g.43808641C>T" "" "{PMID:Scott 2001:11137999}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.42388532C>T" "" "pathogenic (recessive)" "" "0000970308" "0" "70" "21" "43808612" "43808612" "subst" "5.28035E-5" "02327" "TMPRSS3_000095" "g.43808612C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983989" "0" "90" "21" "43808545" "43808545" "subst" "0.000917863" "01804" "TMPRSS3_000003" "g.43808545G>T" "" "" "" "TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005750" "0" "90" "21" "43809089" "43809089" "subst" "2.03061E-5" "02327" "TMPRSS3_000014" "g.43809089G>A" "" "" "" "TMPRSS3(NM_024022.2):c.271C>T (p.R91*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007025" "0" "70" "21" "43796685" "43796685" "subst" "2.03207E-5" "03779" "TMPRSS3_000060" "g.43796685C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs781376204" "0" "" "" "" "" "likely pathogenic" "" "0001044891" "1" "90" "21" "43802210" "43802210" "subst" "0.000143563" "00006" "TMPRSS3_000002" "g.43802210C>T" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.42382101C>T" "" "pathogenic (recessive)" "" "0001044892" "1" "90" "21" "43808527" "43808527" "del" "0" "00006" "TMPRSS3_000121" "g.43808527del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "432delA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.42388418del" "" "pathogenic (recessive)" "" "0001044893" "1" "90" "21" "43803181" "43803181" "subst" "5.68787E-5" "00006" "TMPRSS3_000077" "g.43803181G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.42383072G>A" "" "pathogenic (recessive)" "" "0001049789" "0" "90" "21" "43808545" "43808545" "subst" "0.000917863" "00006" "TMPRSS3_000003" "g.43808545G>T" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "Germline" "" "" "0" "" "" "g.42388436G>T" "" "pathogenic (recessive)" "" "0001060735" "0" "90" "21" "43809153" "43809153" "del" "0" "00006" "TMPRSS3_000004" "g.43809153del" "" "{PMID:Horbacz 2025:41210864}" "" "NM_001256317.1:c.208del" "ACMG PM3, PP1, PVS1, PM2, PP5; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.42389044del" "" "pathogenic" "ACMG" ## 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 TMPRSS3 ## Count = 285 "{{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}}" "0000129024" "00024188" "70" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000129025" "00024188" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000188769" "00024188" "70" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "5" "0000188771" "00024188" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70Thrfs*19)" "4" "0000188772" "00024188" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "12" "0000311906" "00025912" "10" "447" "-13" "447" "-13" "c.447-13A>G" "r.(=)" "p.(=)" "" "0000311906" "00024188" "10" "447" "-13" "447" "-13" "c.447-13A>G" "r.(=)" "p.(=)" "" "0000311907" "00025912" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Val151=)" "" "0000311907" "00024188" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Val151=)" "" "0000316773" "00025912" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Tyr375=)" "" "0000316773" "00024188" "30" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Tyr376=)" "" "0000316774" "00025912" "70" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Ala425Thr)" "" "0000316774" "00024188" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000316775" "00025912" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70ThrfsTer19)" "" "0000316775" "00024188" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70ThrfsTer19)" "" "0000316776" "00025912" "50" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Ter)" "" "0000316776" "00024188" "50" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Ter)" "" "0000316777" "00025912" "70" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Arg)" "" "0000316777" "00024188" "70" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Arg)" "" "0000316778" "00025912" "50" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Lys99Arg)" "" "0000316778" "00024188" "50" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Lys99Arg)" "" "0000316779" "00025912" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000316779" "00024188" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000316780" "00025912" "70" "323" "-6" "323" "-6" "c.323-6G>A" "r.(=)" "p.(=)" "" "0000316780" "00024188" "70" "323" "-6" "323" "-6" "c.323-6G>A" "r.(=)" "p.(=)" "" "0000316781" "00025912" "10" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Ser)" "" "0000316781" "00024188" "10" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Ser)" "" "0000316782" "00025912" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000316782" "00024188" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000316783" "00025912" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Tyr263=)" "" "0000316783" "00024188" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Tyr263=)" "" "0000316784" "00025912" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000316784" "00024188" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000328666" "00025912" "50" "-52" "4" "-52" "4" "c.-52+4A>T" "r.spl?" "p.?" "" "0000328666" "00024188" "50" "-52" "4" "-52" "4" "c.-52+4A>T" "r.spl?" "p.?" "" "0000328667" "00025912" "50" "-52" "3" "-52" "3" "c.-52+3G>T" "r.spl?" "p.?" "" "0000328667" "00024188" "50" "-52" "3" "-52" "3" "c.-52+3G>T" "r.spl?" "p.?" "" "0000338099" "00025912" "90" "1345" "-2" "1345" "-2" "c.1345-2A>G" "r.spl?" "p.?" "" "0000338099" "00024188" "90" "1348" "-2" "1348" "-2" "c.1348-2A>G" "r.spl?" "p.?" "" "0000338100" "00025912" "10" "-34" "0" "-34" "0" "c.-34G>A" "r.(?)" "p.(=)" "" "0000338100" "00024188" "10" "-34" "0" "-34" "0" "c.-34G>A" "r.(?)" "p.(=)" "" "0000338101" "00025912" "30" "-51" "-7" "-51" "-7" "c.-51-7G>C" "r.(=)" "p.(=)" "" "0000338101" "00024188" "30" "-51" "-7" "-51" "-7" "c.-51-7G>C" "r.(=)" "p.(=)" "" "0000338102" "00025912" "10" "-174" "0" "-174" "0" "c.-174T>G" "r.(?)" "p.(=)" "" "0000338102" "00024188" "10" "-174" "0" "-174" "0" "c.-174T>G" "r.(?)" "p.(=)" "" "0000341161" "00025912" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000341161" "00024188" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000341361" "00025912" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000341361" "00024188" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000341436" "00025912" "70" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Ala425Thr)" "" "0000341436" "00024188" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000341623" "00025912" "10" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Ala90Thr)" "" "0000341623" "00024188" "10" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Ala90Thr)" "" "0000345651" "00025912" "10" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Ser)" "" "0000345651" "00024188" "10" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Ser)" "" "0000346515" "00025912" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70ThrfsTer19)" "" "0000346515" "00024188" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70ThrfsTer19)" "" "0000346652" "00025912" "10" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Ile253Val)" "" "0000346652" "00024188" "10" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Ile253Val)" "" "0000350065" "00025912" "10" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Tyr375=)" "" "0000350065" "00024188" "10" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Tyr376=)" "" "0000350310" "00025912" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Val151=)" "" "0000350310" "00024188" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Val151=)" "" "0000350378" "00025912" "70" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000350378" "00024188" "70" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000350583" "00025912" "10" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "" "0000350583" "00024188" "10" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "" "0000351197" "00025912" "10" "1364" "0" "1364" "0" "c.*2G>A" "r.(=)" "p.(=)" "" "0000351197" "00024188" "10" "1367" "0" "1367" "0" "c.*2G>A" "r.(=)" "p.(=)" "" "0000351198" "00025912" "10" "1344" "11" "1344" "11" "c.1344+11C>T" "r.(=)" "p.(=)" "" "0000351198" "00024188" "10" "1347" "11" "1347" "11" "c.1347+11C>T" "r.(=)" "p.(=)" "" "0000351199" "00025912" "30" "1191" "14" "1191" "14" "c.1191+14G>A" "r.(=)" "p.(=)" "" "0000351199" "00024188" "30" "1194" "14" "1194" "14" "c.1194+14G>A" "r.(=)" "p.(=)" "" "0000351201" "00025912" "10" "617" "-18" "617" "-18" "c.617-18C>T" "r.(=)" "p.(=)" "" "0000351201" "00024188" "10" "617" "-18" "617" "-18" "c.617-18C>T" "r.(=)" "p.(=)" "" "0000351202" "00025912" "10" "447" "-13" "447" "-13" "c.447-13A>G" "r.(=)" "p.(=)" "" "0000351202" "00024188" "10" "447" "-13" "447" "-13" "c.447-13A>G" "r.(=)" "p.(=)" "" "0000351203" "00025912" "10" "-131" "0" "-131" "0" "c.-131G>C" "r.(?)" "p.(=)" "" "0000351203" "00024188" "10" "-131" "0" "-131" "0" "c.-131G>C" "r.(?)" "p.(=)" "" "0000351204" "00025912" "10" "-198" "0" "-198" "0" "c.-198G>A" "r.(?)" "p.(=)" "" "0000351204" "00024188" "10" "-198" "0" "-198" "0" "c.-198G>A" "r.(?)" "p.(=)" "" "0000570679" "00025912" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Cys)" "" "0000570679" "00024188" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Cys)" "" "0000570680" "00025912" "30" "1272" "0" "1272" "0" "c.1272C>T" "r.(?)" "p.(Cys424=)" "" "0000570680" "00024188" "30" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Cys425=)" "" "0000570681" "00025912" "30" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Asp373=)" "" "0000570681" "00024188" "30" "1122" "0" "1122" "0" "c.1122C>T" "r.(?)" "p.(Asp374=)" "" "0000570682" "00025912" "90" "617" "-1" "617" "-1" "c.617-1G>T" "r.spl?" "p.?" "" "0000570682" "00024188" "90" "617" "-1" "617" "-1" "c.617-1G>T" "r.spl?" "p.?" "" "0000570683" "00025912" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000570683" "00024188" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000570684" "00025912" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "" "0000570684" "00024188" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "" "0000570685" "00025912" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "0000570685" "00024188" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "0000570686" "00025912" "30" "47" "0" "47" "0" "c.47G>A" "r.(?)" "p.(Arg16Gln)" "" "0000570686" "00024188" "30" "47" "0" "47" "0" "c.47G>A" "r.(?)" "p.(Arg16Gln)" "" "0000618368" "00025912" "50" "754" "0" "754" "0" "c.754A>G" "r.(?)" "p.(Ile252Val)" "" "0000618368" "00024188" "50" "754" "0" "754" "0" "c.754A>G" "r.(?)" "p.(Ile252Val)" "" "0000618369" "00025912" "30" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ser96Leu)" "" "0000618369" "00024188" "30" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ser96Leu)" "" "0000618370" "00025912" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Phe71=)" "" "0000618370" "00024188" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Phe71=)" "" "0000618371" "00025912" "50" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Ile54Thr)" "" "0000618371" "00024188" "50" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Ile54Thr)" "" "0000618372" "00025912" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Ter)" "" "0000618372" "00024188" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Ter)" "" "0000624219" "00025912" "90" "579" "0" "579" "0" "c.579dup" "r.(?)" "p.(Cys194MetfsTer17)" "" "0000624219" "00024188" "90" "579" "0" "579" "0" "c.579dup" "r.(?)" "p.(Cys194MetfsTer17)" "" "0000624220" "00025912" "30" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Arg166Leu)" "" "0000624220" "00024188" "30" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Arg166Leu)" "" "0000624221" "00025912" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Ser124Leu)" "" "0000624221" "00024188" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Ser124Leu)" "" "0000642329" "00024188" "55" "1343" "0" "1343" "0" "c.1343T>C" "r.(?)" "p.(Met448Thr)" "12" "0000642330" "00024188" "77" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Glu446Lys)" "12" "0000642331" "00024188" "77" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Cys)" "12" "0000642332" "00024188" "99" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Pro431Ser)" "12" "0000642333" "00024188" "77" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Glu427Lys)" "12" "0000642334" "00024188" "99" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "12" "0000642335" "00024188" "33" "1275" "0" "1275" "0" "c.1275C>T" "r.(=)" "p.(=)" "12" "0000642336" "00024188" "99" "1273" "0" "1273" "0" "c.1273T>C" "r.(?)" "p.(Cys425Arg)" "12" "0000642337" "00024188" "99" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "12" "0000642338" "00024188" "99" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Pro404Leu)" "12" "0000642339" "00024188" "55" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Asp400Glu)" "12" "0000642340" "00024188" "99" "1195" "-1" "1195" "-1" "c.1195-1G>C" "r.spl?" "p.?" "11i" "0000642341" "00024188" "33" "1194" "11" "1194" "11" "c.1194+11G>A" "r.(=)" "p.(=)" "11i" "0000642342" "00024188" "99" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "11" "0000642343" "00024188" "55" "1183" "0" "1183" "0" "c.1183G>C" "r.(?)" "p.(Asp395His)" "11" "0000642344" "00024188" "99" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Ala387Thr)" "11" "0000642345" "00024188" "99" "1156" "0" "1156" "0" "c.1156T>C" "r.(?)" "p.(Cys386Arg)" "11" "0000642346" "00024188" "55" "1152" "0" "1152" "0" "c.1152G>T" "r.(?)" "p.(Met384Ile)" "11" "0000642347" "00024188" "11" "1128" "0" "1128" "0" "c.1128C>T" "r.(=)" "p.(=)" "11" "0000642348" "00024188" "55" "1090" "0" "1090" "0" "c.1090T>G" "r.(?)" "p.(Leu364Val)" "11" "0000642349" "00024188" "33" "1056" "0" "1056" "0" "c.1056C>T" "r.(=)" "p.(=)" "11" "0000642350" "00024188" "33" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Asp348Asn)" "10" "0000642351" "00024188" "99" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Gly342Glu)" "10" "0000642352" "00024188" "33" "1020" "0" "1020" "0" "c.1020G>A" "r.(=)" "p.(=)" "10" "0000642353" "00024188" "99" "1019" "0" "1019" "0" "c.1019C>G" "r.(?)" "p.(Thr340Arg)" "10" "0000642354" "00024188" "33" "993" "0" "993" "0" "c.993C>T" "r.(=)" "p.(=)" "10" "0000642355" "00024188" "99" "989" "0" "989" "0" "c.989del" "r.(?)" "p.(Glu330Glyfs*28)" "10" "0000642356" "00024188" "33" "975" "0" "975" "0" "c.975G>T" "r.(=)" "p.(=)" "10" "0000642357" "00024188" "55" "948" "0" "948" "0" "c.948C>G" "r.(?)" "p.(Phe316Leu)" "9" "0000642358" "00024188" "99" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "9" "0000642359" "00024188" "33" "789" "0" "789" "0" "c.789C>T" "r.(=)" "p.(=)" "9" "0000642360" "00024188" "33" "783" "0" "783" "0" "c.783C>T" "r.(=)" "p.(=)" "9" "0000642361" "00024188" "99" "771" "0" "771" "0" "c.771C>G" "r.(?)" "p.(His257Gln)" "8" "0000642362" "00024188" "99" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Ala256Val)" "8" "0000642363" "00024188" "99" "753" "0" "753" "0" "c.753G>C" "r.(?)" "p.(Trp251Cys)" "8" "0000642364" "00024188" "99" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Met)" "8" "0000642365" "00024188" "55" "731" "0" "731" "0" "c.731G>T" "r.(?)" "p.(Gly244Val)" "8" "0000642366" "00024188" "99" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Gly243Arg)" "8" "0000642367" "00024188" "99" "726" "0" "726" "0" "c.726C>G" "r.(?)" "p.(Cys242Trp)" "8" "0000642368" "00024188" "99" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "8" "0000642369" "00024188" "99" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Arg216Leu)" "8" "0000642370" "00024188" "99" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "8" "0000642371" "00024188" "55" "616" "5" "616" "5" "c.616+5G>A" "r.spl?" "p.?" "7i" "0000642372" "00024188" "99" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Gln203*)" "7" "0000642373" "00024188" "99" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "7" "0000642374" "00024188" "99" "582" "0" "582" "0" "c.582T>A" "r.(?)" "p.(Cys194*)" "7" "0000642375" "00024188" "99" "580" "0" "581" "0" "c.580_581insA" "r.(?)" "p.(Cys194*)" "7" "0000642376" "00024188" "99" "581" "0" "581" "0" "c.581G>T" "r.(?)" "p.(Cys194Phe)" "7" "0000642377" "00024188" "99" "579" "0" "579" "0" "c.579dup" "r.(?)" "p.(Cys194Metfs*17)" "7" "0000642378" "00024188" "99" "554" "0" "554" "0" "c.554A>T" "r.(?)" "p.(His185Leu)" "6" "0000642379" "00024188" "99" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Asp179Asn)" "6" "0000642380" "00024188" "55" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Arg166Leu)" "6" "0000642381" "00024188" "33" "446" "9" "446" "9" "c.446+9A>G" "r.(=)" "p.(=)" "5i" "0000642382" "00024188" "55" "446" "4" "446" "4" "c.446+4A>T" "r.spl?" "p.?" "5i" "0000642383" "00024188" "99" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "5" "0000642384" "00024188" "55" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Ala138Thr)" "5" "0000642385" "00024188" "33" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Val116Ala)" "5" "0000642386" "00024188" "99" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "5" "0000642387" "00024188" "33" "333" "0" "333" "0" "c.333T>C" "r.(=)" "p.(=)" "5" "0000642388" "00024188" "99" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "5" "0000642389" "00024188" "99" "323" "-6" "323" "-6" "c.323-6G>A" "r.spl" "p.(Val108AlafsTer132)" "4i" "0000642390" "00024188" "99" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "4" "0000642391" "00024188" "99" "310" "0" "310" "0" "c.310G>T" "r.(?)" "p.(Glu104*)" "4" "0000642392" "00024188" "99" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Glu104Lys)" "4" "0000642393" "00024188" "33" "309" "0" "309" "0" "c.309C>T" "r.(=)" "p.(=)" "4" "0000642394" "00024188" "99" "308" "0" "308" "0" "c.308A>G" "r.(?)" "p.(Asp103Gly)" "4" "0000642395" "00024188" "33" "300" "0" "300" "0" "c.300C>T" "r.(=)" "p.(=)" "4" "0000642396" "00024188" "55" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Asp100His)" "4" "0000642397" "00024188" "99" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Arg)" "4" "0000642398" "00024188" "33" "279" "0" "279" "0" "c.279C>T" "r.(=)" "p.(=)" "4" "0000642399" "00024188" "55" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "4" "0000642400" "00024188" "55" "257" "0" "257" "0" "c.257T>A" "r.(?)" "p.(Ile86Asn)" "4" "0000642401" "00024188" "33" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80His)" "4" "0000642402" "00024188" "55" "234" "0" "234" "0" "c.234A>C" "r.(?)" "p.(Arg78Ser)" "4" "0000642403" "00024188" "99" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70Thrfs*19)" "4" "0000642404" "00024188" "77" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16*)" "2" "0000642405" "00024188" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Phe13Leufs*10)" "2" "0000650857" "00025912" "70" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Ala425Thr)" "" "0000650857" "00024188" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000650858" "00025912" "90" "1189" "0" "1189" "0" "c.1189C>T" "r.(?)" "p.(Gln397*)" "" "0000650858" "00024188" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "" "0000650859" "00025912" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000650859" "00024188" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000650860" "00025912" "70" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000650860" "00024188" "70" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000650861" "00025912" "90" "323" "-6" "323" "-6" "c.323-6G>A" "r.(=)" "p.(=)" "" "0000650861" "00024188" "90" "323" "-6" "323" "-6" "c.323-6G>A" "r.(=)" "p.(=)" "" "0000650862" "00025912" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000650862" "00024188" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000650863" "00025912" "10" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Ala90Thr)" "" "0000650863" "00024188" "10" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Ala90Thr)" "" "0000650864" "00025912" "50" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Phe71Ser)" "" "0000650864" "00024188" "50" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Phe71Ser)" "" "0000650865" "00025912" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "" "0000650865" "00024188" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "" "0000669693" "00025912" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "" "0000669693" "00024188" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "" "0000681722" "00025912" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0000681722" "00024188" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0000681723" "00025912" "30" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Ser160Leu)" "" "0000681723" "00024188" "30" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Ser160Leu)" "" "0000686164" "00024188" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70Thrfs*19)" "" "0000686184" "00024188" "50" "1151" "0" "1151" "0" "c.1151T>A" "r.(?)" "p.(Met384Lys)" "" "0000693051" "00025912" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Ala311=)" "" "0000693051" "00024188" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Ala311=)" "" "0000694113" "00024188" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000694114" "00024188" "70" "1224" "0" "1224" "0" "c.1224del" "r.(?)" "p.(Glu409Argfs*7)" "" "0000698973" "00024188" "70" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Gly402Glu)" "" "0000708714" "00024188" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Cys)" "" "0000712303" "00024188" "50" "782" "5" "782" "5" "c.782+5G>A" "r.spl?" "p.?" "" "0000727918" "00025912" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000727918" "00024188" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000727919" "00025912" "90" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(Gly94*)" "" "0000727919" "00024188" "90" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(Gly94*)" "" "0000727920" "00025912" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Ter)" "" "0000727920" "00024188" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Ter)" "" "0000784120" "00024188" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000795493" "00024188" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000795494" "00024188" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000795495" "00024188" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000795496" "00024188" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000795497" "00024188" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000795498" "00024188" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000795499" "00024188" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "" "0000795500" "00024188" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000796639" "00024188" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000818625" "00024188" "70" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000839366" "00024188" "30" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Phe71Ser)" "" "0000866634" "00025912" "50" "1197" "0" "1197" "0" "c.1197C>G" "r.(?)" "p.(Asp399Glu)" "" "0000866634" "00024188" "50" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Asp400Glu)" "" "0000866635" "00025912" "90" "783" "-1" "783" "-1" "c.783-1G>T" "r.spl?" "p.?" "" "0000866635" "00024188" "90" "783" "-1" "783" "-1" "c.783-1G>T" "r.spl?" "p.?" "" "0000915456" "00025912" "90" "1009" "0" "1009" "0" "c.1009del" "r.(?)" "p.(Val337Cysfs*20)" "" "0000915456" "00024188" "90" "1009" "0" "1009" "0" "c.1009del" "r.(?)" "p.(Val337Cysfs*21)" "" "0000927081" "00025912" "70" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Met)" "" "0000927081" "00024188" "70" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Met)" "" "0000943900" "00024188" "70" "551" "0" "551" "0" "c.551T>C" "r.(?)" "p.(Leu184Ser)" "" "0000943901" "00024188" "90" "432" "0" "432" "0" "c.432del" "r.(?)" "p.(Gln144Hisfs*8)" "" "0000944246" "00024188" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Ter)" "" "0000944247" "00024188" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Ter)" "" "0000944248" "00024188" "90" "323" "-6" "323" "-6" "c.323-6G>A" "r.spl" "p.?" "" "0000944249" "00024188" "90" "581" "0" "581" "0" "c.581G>T" "r.(?)" "p.(Cys194Phe)" "" "0000944250" "00024188" "90" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Ala256Val)" "" "0000944251" "00024188" "90" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Ala256Val)" "" "0000944252" "00024188" "90" "783" "-1" "783" "-1" "c.783-1G>T" "r.spl" "p.?" "" "0000944253" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944254" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944255" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944256" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944257" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944258" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944259" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944260" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944274" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944501" "00024188" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70ThrfsTer19)" "" "0000944502" "00024188" "90" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Cys407Arg)" "" "0000944503" "00024188" "90" "323" "-6" "323" "-6" "c.323-6G>A" "r.spl" "p.(Val108AlafsTer26)" "" "0000944504" "00024188" "90" "323" "-6" "323" "-6" "c.323-6G>A" "r.spl" "p.(Val108AlafsTer26)" "" "0000970308" "00025912" "70" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "" "0000970308" "00024188" "70" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "" "0000983989" "00025912" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0000983989" "00024188" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0001005750" "00025912" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Ter)" "" "0001005750" "00024188" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Ter)" "" "0001007025" "00025912" "70" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Ala386Thr)" "" "0001044891" "00024188" "90" "916" "0" "916" "0" "c.916G>A" "r,(?)" "p.(Ala306Thr)" "" "0001044892" "00024188" "90" "432" "0" "432" "0" "c.432del" "r,(?)" "p.(Gln144HisfsTer8)" "" "0001044893" "00024188" "90" "743" "0" "743" "0" "c.743C>T" "r,(?)" "p.(Thr248Met)" "" "0001049789" "00025912" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0001049789" "00024188" "90" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Ala138Glu)" "" "0001060735" "00025912" "90" "207" "0" "207" "0" "c.207del" "" "" "" "0001060735" "00024188" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(His70ThrfsTer19)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 132 "{{screeningid}}" "{{variantid}}" "0000080126" "0000129024" "0000080126" "0000129025" "0000117759" "0000188769" "0000117760" "0000188771" "0000117760" "0000188772" "0000164080" "0000694114" "0000164399" "0000694113" "0000286587" "0000642329" "0000286588" "0000642330" "0000286589" "0000642331" "0000286590" "0000642332" "0000286591" "0000642333" "0000286592" "0000642334" "0000286593" "0000642335" "0000286594" "0000642336" "0000286595" "0000642337" "0000286596" "0000642338" "0000286597" "0000642339" "0000286598" "0000642340" "0000286599" "0000642341" "0000286600" "0000642342" "0000286601" "0000642343" "0000286602" "0000642344" "0000286603" "0000642345" "0000286604" "0000642346" "0000286605" "0000642347" "0000286606" "0000642348" "0000286607" "0000642349" "0000286608" "0000642350" "0000286609" "0000642351" "0000286610" "0000642352" "0000286611" "0000642353" "0000286612" "0000642354" "0000286613" "0000642355" "0000286614" "0000642356" "0000286615" "0000642357" "0000286616" "0000642358" "0000286617" "0000642359" "0000286618" "0000642360" "0000286619" "0000642361" "0000286620" "0000642362" "0000286621" "0000642363" "0000286622" "0000642364" "0000286623" "0000642365" "0000286624" "0000642366" "0000286625" "0000642367" "0000286626" "0000642368" "0000286627" "0000642369" "0000286628" "0000642370" "0000286629" "0000642371" "0000286630" "0000642372" "0000286631" "0000642373" "0000286632" "0000642374" "0000286633" "0000642375" "0000286634" "0000642376" "0000286635" "0000642377" "0000286636" "0000642378" "0000286637" "0000642379" "0000286638" "0000642380" "0000286639" "0000642381" "0000286640" "0000642382" "0000286641" "0000642383" "0000286642" "0000642384" "0000286643" "0000642385" "0000286644" "0000642386" "0000286645" "0000642387" "0000286646" "0000642388" "0000286647" "0000642389" "0000286648" "0000642390" "0000286649" "0000642391" "0000286650" "0000642392" "0000286651" "0000642393" "0000286652" "0000642394" "0000286653" "0000642395" "0000286654" "0000642396" "0000286655" "0000642397" "0000286656" "0000642398" "0000286657" "0000642399" "0000286658" "0000642400" "0000286659" "0000642401" "0000286660" "0000642402" "0000286661" "0000642403" "0000286662" "0000642404" "0000286663" "0000642405" "0000294168" "0000650857" "0000294169" "0000650858" "0000294170" "0000650859" "0000294171" "0000650860" "0000294172" "0000650861" "0000294173" "0000650862" "0000294174" "0000650863" "0000294175" "0000650864" "0000294176" "0000650865" "0000306005" "0000669693" "0000311014" "0000686164" "0000311014" "0000686184" "0000328360" "0000712303" "0000381921" "0000795493" "0000381921" "0000795494" "0000381922" "0000795495" "0000381922" "0000795496" "0000381923" "0000795497" "0000381923" "0000795498" "0000381924" "0000795499" "0000381924" "0000795500" "0000442600" "0000943900" "0000442601" "0000943901" "0000442919" "0000944246" "0000442920" "0000944247" "0000442921" "0000944248" "0000442922" "0000944249" "0000442923" "0000944250" "0000442924" "0000944251" "0000442925" "0000944252" "0000442926" "0000944253" "0000442927" "0000944254" "0000442928" "0000944255" "0000442929" "0000944256" "0000442930" "0000944257" "0000442931" "0000944258" "0000442932" "0000944259" "0000442933" "0000944260" "0000442947" "0000944274" "0000443119" "0000944501" "0000443120" "0000944502" "0000443121" "0000944503" "0000443122" "0000944504" "0000467122" "0001044891" "0000467123" "0001044892" "0000467124" "0001044893" "0000469414" "0001049789" "0000472324" "0001060735"