### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNQ4) # 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}}" "KCNQ4" "potassium voltage-gated channel, KQT-like subfamily, member 4" "1" "p34" "unknown" "LRG_1378" "UD_132084482389" "" "https://www.LOVD.nl/KCNQ4" "" "1" "6298" "9132" "603537" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KCNQ4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-15 14:38:36" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010416" "KCNQ4" "transcript variant 1" "001" "NM_004700.3" "" "NP_004691.2" "" "" "" "-82" "4017" "2088" "41249684" "41306124" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02285" "DFNA2A" "deafness, autosomal dominant, type 2A (DFNA-2A)" "AD" "600101" "" "" "" "00006" "2014-09-25 23:29:40" "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" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KCNQ4" "02285" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00059149" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00281968" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Kamada 2006:16596322}" "" "" "" "" "" "0" "" "" "" "" "00281969" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301388}, {PMID:Coucke 1999:10369879}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00281970" "" "" "" "1" "" "00004" "{PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "" "" "0" "" "" "" "" "00281971" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281972" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Duzkale 2013:24033266}, {PMID:Nie 2008:18797286}" "" "" "" "" "" "0" "" "" "" "" "00281973" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281974" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Naito 2013:23717403}, {PMID:Wang 2014:25116015}" "" "" "" "" "" "0" "" "" "" "" "00281975" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Su 2007:17033161}" "" "" "" "" "" "0" "" "" "" "" "00281976" "" "" "" "1" "" "00004" "{PMID:Baek 2011:20832469}" "" "" "" "" "" "0" "" "" "" "" "00281977" "" "" "" "1" "" "00004" "{PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "" "" "0" "" "" "" "" "00281978" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281979" "" "" "" "1" "" "00004" "{PMID:Hildebrand 2008:18941426}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281980" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Hildebrand 2008:18941426}" "" "" "" "" "" "0" "" "" "" "" "00281981" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Hildebrand 2008:18941426}" "" "" "" "" "" "0" "" "" "" "" "00281982" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Abdelfatah 2013:23443030}, {PMID:Watabe 2013:23399560}" "" "" "" "" "" "0" "" "" "" "" "00281983" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Namba 2012:22420747}" "" "" "" "" "" "0" "" "" "" "" "00281984" "" "" "" "1" "" "00004" "{PMID:Kim 2011:20966080}, {PMID:Shearer 1993:20301607}, {PMID:Van Hauwe 2000:10925378}, {PMID:de Heer 2011:21585154}, {PMID:Smith 1993:20301388}, {PMID:Gao 2013:23750663}" "" "" "" "" "" "0" "" "" "" "" "00281985" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Wang 2014:25116015}" "" "" "" "" "" "0" "" "" "" "" "00281986" "" "" "" "1" "" "00004" "{PMID:Gao 2013:23750663}, {PMID:Kim 2011:20966080}, {PMID:Usami 2012:22384008}, {PMID:Topsakal 2005:15699719}, {PMID:Van Camp 2002:12112653}, {PMID:Shearer 1993:20301607}, {PMID:Coucke 1999:10369879}, {PMID:Baek 2011:20832469}, {PMID:Smith 1993:20301388}, {PMID:Akita 2001:11450843}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281987" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281988" "" "" "" "1" "" "00004" "{PMID:Kim 2011:20966080}, {PMID:Talebizadeh 1999:10571947}, {PMID:Smith 1993:20301388}, {PMID:Shearer 1993:20301607}, {PMID:Gao 2013:23750663}" "" "" "" "" "" "0" "" "" "" "" "00281989" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301388}, {PMID:Shearer 1993:20301607}, {PMID:Coucke 1999:10369879}, {PMID:Kubisch 1999:10025409}, {PMID:Gao 2013:23750663}" "" "" "" "" "" "0" "" "" "" "" "00281990" "" "" "" "1" "" "00004" "{PMID:Wang 2014:25116015}, {PMID:Shearer 1993:20301607}, {PMID:Kim 2011:20966080}, {PMID:Coucke 1999:10369879}, {PMID:Bal 2008:18786918}, {PMID:Smith 1993:20301388}, {PMID:Duzkale 2013:24033266}, {PMID:Kubisch 1999:10025409}, {PMID:Gao 2013:23750663}" "" "" "" "" "" "0" "" "" "" "" "00281991" "" "" "" "1" "" "00004" "{PMID:Arnett 2011:21242547}" "" "" "" "" "" "0" "" "" "" "" "00281992" "" "" "" "1" "" "00004" "{PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "" "" "0" "" "" "" "" "00281993" "" "" "" "1" "" "00004" "{PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "" "" "0" "" "" "" "" "00281994" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Mencía 2008:18030493}, {PMID:Gao 2013:23750663}" "" "" "" "" "" "0" "" "" "" "" "00281995" "" "" "" "1" "" "00004" "{PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "" "" "0" "" "" "" "" "00281996" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301388}, {PMID:Coucke 1999:10369879}, {PMID:Shearer 1993:20301607}, {PMID:Gao 2013:23750663}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281997" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Wasano 2015:26036578}" "" "" "" "" "" "0" "" "" "" "" "00281998" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281999" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282000" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282001" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282002" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Su 2007:17033161}" "" "" "" "" "" "0" "" "" "" "" "00282003" "" "" "" "1" "" "00004" "{PMID:Yuen 2015:25621899}" "" "" "" "" "" "0" "" "" "" "" "00282004" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282005" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282006" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00282007" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "" "" "0" "" "" "" "" "00327102" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB356-697" "00391289" "" "" "" "1" "" "00006" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00441488" "" "" "" "4" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 4 affected" "" "" "France" "" "0" "" "" "" "PAR016" "00441489" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR047" "00465438" "" "" "" "3" "" "00006" "{PMID:Su 2007:17033161}, {PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465439" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465440" "" "" "" "3" "" "00006" "{PMID:Wu 2013: 23451214}, {PMID:Wu 2019:31581539}" "3-generation family, 3 affected (3F)" "F" "" "Taiwan" "" "0" "" "" "" "DE2675" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00059149" "00531" "00281968" "05103" "00281969" "05103" "00281970" "05086" "00281972" "05103" "00281974" "05103" "00281976" "05103" "00281977" "05086" "00281979" "05103" "00281980" "05103" "00281981" "05103" "00281982" "05086" "00281983" "05103" "00281984" "05103" "00281985" "05086" "00281986" "05103" "00281988" "05103" "00281989" "05103" "00281990" "05103" "00281991" "05103" "00281992" "05086" "00281993" "05086" "00281994" "05103" "00281995" "05086" "00281996" "05103" "00281997" "05103" "00282003" "00138" "00282006" "05103" "00282007" "00198" "00327102" "06877" "00391289" "00531" "00441488" "05086" "00441489" "05086" "00465438" "05086" "00465439" "05086" "00465440" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 00531, 02285, 05086, 05103, 06877 ## Count = 33 "{{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}}" "0000216402" "00138" "00282003" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Autism spectrum disorder" "" "0000216461" "00198" "00282007" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sensorineural hearing impairment, idiopathic" "" "0000218116" "05086" "00281970" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218117" "05086" "00281977" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218118" "05086" "00281982" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218119" "05086" "00281985" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218120" "05086" "00281992" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218121" "05086" "00281993" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218122" "05086" "00281995" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218352" "05103" "00281968" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218353" "05103" "00281969" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218354" "05103" "00281972" "00008" "Unknown" "" "hearing loss (HL), non-syndromic" "" "" "" "" "" "" "" "" "" "DFNA 2 non-syndromic Hearing Loss" "" "0000218355" "05103" "00281974" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218356" "05103" "00281976" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218357" "05103" "00281979" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218358" "05103" "00281980" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218359" "05103" "00281981" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218360" "05103" "00281983" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218361" "05103" "00281984" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218362" "05103" "00281986" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218363" "05103" "00281988" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218364" "05103" "00281989" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218365" "05103" "00281990" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218366" "05103" "00281991" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218367" "05103" "00281994" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218368" "05103" "00281996" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 2" "deafness, autosomal dominant" "" "0000218369" "05103" "00281997" "00008" "Unknown" "" "hearing loss (HL), non-syndromic" "" "" "" "" "" "" "" "" "" "DFNA 2 non-syndromic Hearing Loss" "" "0000218370" "05103" "00282006" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000330926" "05086" "00441488" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330927" "05086" "00441489" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000350986" "05086" "00465438" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000350987" "05086" "00465439" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000350988" "05086" "00465440" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059122" "00059149" "1" "01551" "01551" "2016-02-29 10:54:13" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000283118" "00281968" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283119" "00281969" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283120" "00281970" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283121" "00281971" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283122" "00281972" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283123" "00281973" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283124" "00281974" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283125" "00281975" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283126" "00281976" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283127" "00281977" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283128" "00281978" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283129" "00281979" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283130" "00281980" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283131" "00281981" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283132" "00281982" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283133" "00281983" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283134" "00281984" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283135" "00281985" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283136" "00281986" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283137" "00281987" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283138" "00281988" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283139" "00281989" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283140" "00281990" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283141" "00281991" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283142" "00281992" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283143" "00281993" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283144" "00281994" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283145" "00281995" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283146" "00281996" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283147" "00281997" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283148" "00281998" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283149" "00281999" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283150" "00282000" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283151" "00282001" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283152" "00282002" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283153" "00282003" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283154" "00282004" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283155" "00282005" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283156" "00282006" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283157" "00282007" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000328315" "00327102" "1" "03611" "03611" "2021-01-20 07:23:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000392531" "00391289" "1" "00006" "00006" "2021-11-15 14:48:47" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000442974" "00441488" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442975" "00441489" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467087" "00465438" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467088" "00465439" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467089" "00465440" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000059122" "KCNQ4" "0000283118" "KCNQ4" "0000283119" "KCNQ4" "0000283120" "KCNQ4" "0000283121" "KCNQ4" "0000283122" "KCNQ4" "0000283123" "KCNQ4" "0000283124" "KCNQ4" "0000283125" "KCNQ4" "0000283126" "KCNQ4" "0000283127" "KCNQ4" "0000283128" "KCNQ4" "0000283129" "KCNQ4" "0000283130" "KCNQ4" "0000283131" "KCNQ4" "0000283132" "KCNQ4" "0000283133" "KCNQ4" "0000283134" "KCNQ4" "0000283135" "KCNQ4" "0000283136" "KCNQ4" "0000283137" "KCNQ4" "0000283138" "KCNQ4" "0000283139" "KCNQ4" "0000283140" "KCNQ4" "0000283141" "KCNQ4" "0000283142" "KCNQ4" "0000283143" "KCNQ4" "0000283144" "KCNQ4" "0000283145" "KCNQ4" "0000283146" "KCNQ4" "0000283147" "KCNQ4" "0000283148" "KCNQ4" "0000283149" "KCNQ4" "0000283150" "KCNQ4" "0000283151" "KCNQ4" "0000283152" "KCNQ4" "0000283153" "KCNQ4" "0000283154" "KCNQ4" "0000283155" "KCNQ4" "0000283156" "KCNQ4" "0000283157" "KCNQ4" "0000392531" "KCNQ4" ## 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 = 122 "{{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}}" "0000089921" "0" "50" "1" "41296936" "41296936" "subst" "0" "01551" "KCNQ4_000001" "g.41296936C>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "NM_172163.2:c.1311C>G" "" "Germline" "" "" "0" "" "" "g.40831264C>G" "" "VUS" "" "0000281737" "0" "10" "1" "41284366" "41284366" "subst" "0.642705" "02325" "KCNQ4_000003" "g.41284366G>C" "" "" "" "KCNQ4(NM_004700.3):c.708+14G>C, KCNQ4(NM_004700.4):c.708+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818694G>C" "" "benign" "" "0000281738" "0" "10" "1" "41285087" "41285087" "subst" "0.646824" "02325" "KCNQ4_000004" "g.41285087T>C" "" "" "" "KCNQ4(NM_004700.3):c.777T>C (p.A259=), KCNQ4(NM_004700.4):c.777T>C (p.A259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819415T>C" "" "benign" "" "0000290094" "0" "30" "1" "41289826" "41289826" "subst" "0.0017928" "01943" "KCNQ4_000009" "g.41289826C>T" "" "" "" "KCNQ4(NM_004700.3):c.1188C>T (p.P396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40824154C>T" "" "likely benign" "" "0000290095" "0" "50" "1" "41289900" "41289900" "subst" "4.4572E-5" "01943" "KCNQ4_000010" "g.41289900C>T" "" "" "" "KCNQ4(NM_004700.3):c.1262C>T (p.P421L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40824228C>T" "" "VUS" "" "0000290096" "0" "10" "1" "41296828" "41296828" "subst" "0.176469" "01943" "KCNQ4_000011" "g.41296828T>G" "" "" "" "KCNQ4(NM_004700.3):c.1365T>G (p.H455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40831156T>G" "" "benign" "" "0000290097" "0" "30" "1" "41296927" "41296927" "subst" "2.16387E-5" "01943" "KCNQ4_000012" "g.41296927C>T" "" "" "" "KCNQ4(NM_004700.3):c.1464C>T (p.R488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40831255C>T" "" "likely benign" "" "0000290098" "0" "30" "1" "41298744" "41298744" "subst" "0.000101886" "01943" "KCNQ4_000013" "g.41298744C>T" "" "" "" "KCNQ4(NM_004700.3):c.1572C>T (p.D524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40833072C>T" "" "likely benign" "" "0000290099" "0" "30" "1" "41303409" "41303409" "subst" "0.00256119" "01943" "KCNQ4_000014" "g.41303409C>G" "" "" "" "KCNQ4(NM_004700.3):c.1818C>G (p.D606E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40837737C>G" "" "likely benign" "" "0000290100" "0" "50" "1" "41304041" "41304041" "subst" "0" "01943" "KCNQ4_000015" "g.41304041G>T" "" "" "" "KCNQ4(NM_004700.3):c.1934G>T (p.R645L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40838369G>T" "" "VUS" "" "0000290101" "0" "50" "1" "41284309" "41284309" "subst" "4.71245E-5" "01943" "KCNQ4_000002" "g.41284309G>A" "" "" "" "KCNQ4(NM_004700.3):c.665G>A (p.G222D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818637G>A" "" "VUS" "" "0000290102" "0" "10" "1" "41284366" "41284366" "subst" "0.642705" "01943" "KCNQ4_000003" "g.41284366G>C" "" "" "" "KCNQ4(NM_004700.3):c.708+14G>C, KCNQ4(NM_004700.4):c.708+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818694G>C" "" "benign" "" "0000290103" "0" "30" "1" "41285087" "41285087" "subst" "0.646824" "01943" "KCNQ4_000004" "g.41285087T>C" "" "" "" "KCNQ4(NM_004700.3):c.777T>C (p.A259=), KCNQ4(NM_004700.4):c.777T>C (p.A259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819415T>C" "" "likely benign" "" "0000290104" "0" "30" "1" "41285087" "41285087" "subst" "4.06164E-6" "01943" "KCNQ4_000005" "g.41285087T>G" "" "" "" "KCNQ4(NM_004700.3):c.777T>G (p.A259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819415T>G" "" "likely benign" "" "0000290106" "0" "90" "1" "41285137" "41285137" "subst" "0" "01943" "KCNQ4_000007" "g.41285137G>C" "" "" "" "KCNQ4(NM_004700.3):c.827G>C (p.W276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819465G>C" "" "pathogenic" "" "0000290107" "0" "10" "1" "41285171" "41285171" "subst" "0.147184" "01943" "KCNQ4_000008" "g.41285171C>A" "" "" "" "KCNQ4(NM_004700.3):c.834+27C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819499C>A" "" "benign" "" "0000338053" "0" "10" "1" "41282919" "41282919" "subst" "0.156875" "02327" "KCNQ4_000017" "g.41282919C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40817247C>T" "" "benign" "" "0000338054" "0" "10" "1" "41282921" "41282921" "subst" "0.156316" "02327" "KCNQ4_000018" "g.41282921C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40817249C>T" "" "benign" "" "0000338055" "0" "10" "1" "41284366" "41284366" "subst" "0.642705" "02327" "KCNQ4_000003" "g.41284366G>C" "" "" "" "KCNQ4(NM_004700.3):c.708+14G>C, KCNQ4(NM_004700.4):c.708+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818694G>C" "" "benign" "" "0000338056" "0" "30" "1" "41304306" "41304306" "subst" "0" "02327" "KCNQ4_000038" "g.41304306A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40838634A>G" "" "likely benign" "" "0000340052" "0" "10" "1" "41285087" "41285087" "subst" "0.646824" "02327" "KCNQ4_000004" "g.41285087T>C" "" "" "" "KCNQ4(NM_004700.3):c.777T>C (p.A259=), KCNQ4(NM_004700.4):c.777T>C (p.A259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819415T>C" "" "benign" "" "0000340053" "0" "10" "1" "41285553" "41285553" "subst" "0.0397081" "02327" "KCNQ4_000025" "g.41285553T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819881T>C" "" "benign" "" "0000340054" "0" "10" "1" "41285585" "41285585" "subst" "0.106178" "02327" "KCNQ4_000029" "g.41285585G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819913G>A" "" "benign" "" "0000340055" "0" "10" "1" "41285591" "41285591" "subst" "0.106254" "02327" "KCNQ4_000030" "g.41285591A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819919A>G" "" "benign" "" "0000340056" "0" "10" "1" "41300682" "41300682" "subst" "0.0350869" "02327" "KCNQ4_000035" "g.41300682C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40835010C>T" "" "benign" "" "0000340914" "0" "10" "1" "41289826" "41289826" "subst" "0.0017928" "02327" "KCNQ4_000009" "g.41289826C>T" "" "" "" "KCNQ4(NM_004700.3):c.1188C>T (p.P396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40824154C>T" "" "benign" "" "0000340925" "0" "10" "1" "41300690" "41300690" "subst" "0.0301165" "02327" "KCNQ4_000036" "g.41300690G>A" "" "" "" "KCNQ4(NM_004700.3):c.1665G>A (p.P555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40835018G>A" "" "benign" "" "0000341324" "0" "70" "1" "41285121" "41285121" "subst" "0" "02327" "KCNQ4_000023" "g.41285121G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819449G>A" "" "likely pathogenic" "" "0000341375" "0" "50" "1" "41285859" "41285859" "subst" "0" "02327" "KCNQ4_000033" "g.41285859C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40820187C>T" "" "VUS" "" "0000342249" "0" "50" "1" "41284282" "41284282" "subst" "4.23905E-6" "02327" "KCNQ4_000020" "g.41284282G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818610G>C" "" "VUS" "" "0000342570" "0" "70" "1" "41285602" "41285602" "subst" "0" "02327" "KCNQ4_000031" "g.41285602G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819930G>C" "" "likely pathogenic" "" "0000343002" "0" "50" "1" "41296938" "41296938" "subst" "0" "02327" "KCNQ4_000034" "g.41296938G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40831266G>A" "" "VUS" "" "0000345122" "0" "50" "1" "41283836" "41283836" "subst" "0" "02327" "KCNQ4_000019" "g.41283836G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818164G>A" "" "VUS" "" "0000345875" "0" "50" "1" "41284309" "41284309" "subst" "4.71245E-5" "02327" "KCNQ4_000002" "g.41284309G>A" "" "" "" "KCNQ4(NM_004700.3):c.665G>A (p.G222D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818637G>A" "" "VUS" "" "0000345889" "0" "30" "1" "41284326" "41284326" "subst" "1.73418E-5" "02327" "KCNQ4_000021" "g.41284326G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40818654G>T" "" "likely benign" "" "0000346480" "0" "10" "1" "41296828" "41296828" "subst" "0.176469" "02327" "KCNQ4_000011" "g.41296828T>G" "" "" "" "KCNQ4(NM_004700.3):c.1365T>G (p.H455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40831156T>G" "" "benign" "" "0000347060" "0" "90" "1" "41285131" "41285131" "subst" "0" "02327" "KCNQ4_000024" "g.41285131T>A" "" "" "" "KCNQ4(NM_004700.4):c.821T>A (p.L274H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819459T>A" "" "pathogenic" "" "0000348349" "0" "70" "1" "41285584" "41285584" "subst" "0" "02327" "KCNQ4_000028" "g.41285584C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819912C>T" "" "likely pathogenic" "" "0000349411" "0" "30" "1" "41285556" "41285556" "subst" "0" "02327" "KCNQ4_000026" "g.41285556A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819884A>G" "" "likely benign" "" "0000349756" "0" "90" "1" "41285137" "41285137" "subst" "0" "02327" "KCNQ4_000007" "g.41285137G>C" "" "" "" "KCNQ4(NM_004700.3):c.827G>C (p.W276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819465G>C" "" "pathogenic" "" "0000350017" "0" "50" "1" "41285118" "41285118" "subst" "0" "02327" "KCNQ4_000022" "g.41285118T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40819446T>A" "" "VUS" "" "0000350592" "0" "50" "1" "41300706" "41300706" "subst" "8.1217E-6" "02327" "KCNQ4_000037" "g.41300706G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40835034G>A" "" "VUS" "" "0000351181" "0" "90" "1" "41285852" "41285852" "subst" "0" "02327" "KCNQ4_000032" "g.41285852G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40820180G>A" "" "pathogenic" "" "0000507456" "0" "70" "1" "41284294" "41284294" "subst" "0" "02327" "KCNQ4_000039" "g.41284294T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40818622T>G" "" "likely pathogenic" "" "0000507457" "0" "50" "1" "41285569" "41285569" "subst" "0" "02327" "KCNQ4_000040" "g.41285569A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40819897A>G" "" "VUS" "" "0000507458" "0" "10" "1" "41285863" "41285863" "subst" "0.00329274" "01943" "KCNQ4_000041" "g.41285863G>A" "" "" "" "KCNQ4(NM_004700.3):c.972G>A (p.L324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40820191G>A" "" "benign" "" "0000507459" "0" "30" "1" "41296961" "41296961" "subst" "9.27816E-6" "02327" "KCNQ4_000042" "g.41296961C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40831289C>T" "" "likely benign" "" "0000507460" "0" "30" "1" "41298799" "41298799" "subst" "0" "02327" "KCNQ4_000043" "g.41298799C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40833127C>G" "" "likely benign" "" "0000507461" "0" "10" "1" "41304093" "41304093" "subst" "0.00291894" "01943" "KCNQ4_000044" "g.41304093C>G" "" "" "" "KCNQ4(NM_004700.3):c.1986C>G (p.P662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40838421C>G" "" "benign" "" "0000605760" "0" "70" "1" "41249875" "41249875" "dup" "0" "02327" "KCNQ4_000045" "g.41249875dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40784203dup" "" "likely pathogenic" "" "0000605762" "0" "50" "1" "41285921" "41285921" "subst" "0" "02327" "KCNQ4_000047" "g.41285921A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40820249A>G" "" "VUS" "" "0000605763" "0" "50" "1" "41303465" "41303465" "subst" "0" "02327" "KCNQ4_000048" "g.41303465A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40837793A>C" "" "VUS" "" "0000605764" "0" "70" "1" "41303467" "41303467" "subst" "0" "02327" "KCNQ4_000049" "g.41303467G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40837795G>T" "" "likely pathogenic" "" "0000620635" "0" "90" "1" "41285565" "41285565" "subst" "0" "01943" "KCNQ4_000027" "g.41285565G>A" "" "" "" "KCNQ4(NM_004700.3):c.853G>A (p.G285S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40819893G>A" "" "pathogenic" "" "0000620636" "0" "50" "1" "41285652" "41285652" "subst" "0" "01943" "KCNQ4_000046" "g.41285652C>A" "" "" "" "KCNQ4(NM_004700.3):c.940C>A (p.P314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40819980C>A" "" "VUS" "" "0000638860" "1" "99" "1" "41249976" "41249976" "del" "0" "00004" "KCNQ4_000050" "g.41249976del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Kamada 2006:16596322}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40784304del" "" "pathogenic" "" "0000638861" "1" "99" "1" "41249977" "41249989" "del" "0" "00004" "KCNQ4_000016" "g.41249977_41249989del" "" "{DB:DVD}, {PMID:Smith 1993:20301388}, {PMID:Coucke 1999:10369879}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40784305_40784317del" "" "pathogenic" "" "0000638862" "1" "99" "1" "41249993" "41249994" "dup" "0" "00004" "KCNQ4_000051" "g.41249993_41249994dup" "" "{DB:DVD}, {PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40784321_40784322dup" "" "pathogenic" "" "0000638863" "1" "33" "1" "41283868" "41283868" "subst" "0.000129981" "00004" "KCNQ4_000052" "g.41283868G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818196G>A" "" "likely benign" "" "0000638864" "1" "99" "1" "41283889" "41283889" "del" "0" "00004" "KCNQ4_000053" "g.41283889del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Duzkale 2013:24033266}, {PMID:Nie 2008:18797286}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818217del" "" "pathogenic" "" "0000638865" "1" "33" "1" "41283895" "41283895" "subst" "0.00101259" "00004" "KCNQ4_000054" "g.41283895A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818223A>C" "" "likely benign" "" "0000638866" "1" "99" "1" "41284190" "41284190" "subst" "0.000317618" "00004" "KCNQ4_000055" "g.41284190C>G" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Naito 2013:23717403}, {PMID:Wang 2014:25116015}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818518C>G" "" "pathogenic" "" "0000638867" "1" "55" "1" "41284292" "41284292" "subst" "0.000169795" "00004" "KCNQ4_000056" "g.41284292C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Su 2007:17033161}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818620C>T" "" "VUS" "" "0000638868" "1" "99" "1" "41284311" "41284328" "del" "0" "00004" "KCNQ4_000057" "g.41284311_41284328del" "" "{DB:DVD}, {PMID:Baek 2011:20832469}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818639_40818656del" "" "pathogenic" "" "0000638869" "1" "99" "1" "41284333" "41284333" "subst" "0" "00004" "KCNQ4_000058" "g.41284333T>A" "" "{DB:DVD}, {PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818661T>A" "" "pathogenic" "" "0000638870" "1" "33" "1" "41284343" "41284343" "subst" "0" "00004" "KCNQ4_000059" "g.41284343G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40818671G>C" "" "likely benign" "" "0000638871" "1" "99" "1" "41285035" "41285035" "subst" "0" "00004" "KCNQ4_000060" "g.41285035G>A" "" "{DB:DVD}, {PMID:Hildebrand 2008:18941426}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819363G>A" "" "pathogenic" "" "0000638872" "1" "99" "1" "41285088" "41285088" "subst" "0" "00004" "KCNQ4_000061" "g.41285088G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Hildebrand 2008:18941426}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819416G>A" "" "pathogenic" "" "0000638873" "1" "99" "1" "41285095" "41285095" "subst" "0" "00004" "KCNQ4_000062" "g.41285095A>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Hildebrand 2008:18941426}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819423A>T" "" "pathogenic" "" "0000638874" "1" "99" "1" "41285116" "41285118" "del" "0" "00004" "KCNQ4_000063" "g.41285116_41285118del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Abdelfatah 2013:23443030}, {PMID:Watabe 2013:23399560}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819444_40819446del" "" "pathogenic" "" "0000638875" "1" "99" "1" "41285118" "41285118" "subst" "0" "00004" "KCNQ4_000064" "g.41285118T>C" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Namba 2012:22420747}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819446T>C" "" "pathogenic" "" "0000638876" "1" "99" "1" "41285131" "41285131" "subst" "0" "00004" "KCNQ4_000024" "g.41285131T>A" "" "{DB:DVD}, {PMID:Kim 2011:20966080}, {PMID:Shearer 1993:20301607}, {PMID:Van Hauwe 2000:10925378}, {PMID:de Heer 2011:21585154}, {PMID:Smith 1993:20301388}, {PMID:Gao 2013:23750663}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819459T>A" "" "pathogenic" "" "0000638877" "1" "99" "1" "41285133" "41285133" "subst" "0" "00004" "KCNQ4_000065" "g.41285133T>C" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Wang 2014:25116015}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819461T>C" "" "pathogenic" "" "0000638878" "1" "99" "1" "41285137" "41285137" "subst" "0" "00004" "KCNQ4_000007" "g.41285137G>C" "" "{DB:DVD}, {PMID:Gao 2013:23750663}, {PMID:Kim 2011:20966080}, {PMID:Usami 2012:22384008}, {PMID:Topsakal 2005:15699719}, {PMID:Van Camp 2002:12112653}, {PMID:Shearer 1993:20301607}, {PMID:Coucke 1999:10369879}, {PMID:Baek 2011:20832469}, {PMID:Smith 1993:20301388}, {PMID:Akita 2001:11450843}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819465G>C" "" "pathogenic" "" "0000638879" "1" "55" "1" "41285139" "41285139" "subst" "0" "00004" "KCNQ4_000066" "g.41285139G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819467G>A" "" "VUS" "" "0000638880" "1" "99" "1" "41285554" "41285554" "subst" "0" "00004" "KCNQ4_000067" "g.41285554T>C" "" "{DB:DVD}, {PMID:Kim 2011:20966080}, {PMID:Talebizadeh 1999:10571947}, {PMID:Smith 1993:20301388}, {PMID:Shearer 1993:20301607}, {PMID:Gao 2013:23750663}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819882T>C" "" "pathogenic" "" "0000638881" "1" "99" "1" "41285565" "41285565" "subst" "0" "00004" "KCNQ4_000068" "g.41285565G>T" "" "{DB:DVD}, {PMID:Smith 1993:20301388}, {PMID:Shearer 1993:20301607}, {PMID:Coucke 1999:10369879}, {PMID:Kubisch 1999:10025409}, {PMID:Gao 2013:23750663}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819893G>T" "" "pathogenic" "" "0000638882" "1" "99" "1" "41285565" "41285565" "subst" "0" "00004" "KCNQ4_000027" "g.41285565G>A" "" "{DB:DVD}, {PMID:Wang 2014:25116015}, {PMID:Shearer 1993:20301607}, {PMID:Kim 2011:20966080}, {PMID:Coucke 1999:10369879}, {PMID:Bal 2008:18786918}, {PMID:Smith 1993:20301388}, {PMID:Duzkale 2013:24033266}, {PMID:Kubisch 1999:10025409}, {PMID:Gao 2013:23750663}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819893G>A" "" "pathogenic" "" "0000638883" "1" "99" "1" "41285571" "41285571" "subst" "0" "00004" "KCNQ4_000069" "g.41285571G>C" "" "{DB:DVD}, {PMID:Arnett 2011:21242547}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819899G>C" "" "pathogenic" "" "0000638884" "1" "99" "1" "41285583" "41285583" "subst" "0" "00004" "KCNQ4_000070" "g.41285583C>T" "" "{DB:DVD}, {PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819911C>T" "" "pathogenic" "" "0000638885" "1" "99" "1" "41285584" "41285584" "subst" "0" "00004" "KCNQ4_000028" "g.41285584C>T" "" "{DB:DVD}, {PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819912C>T" "" "pathogenic" "" "0000638886" "1" "99" "1" "41285598" "41285598" "subst" "0" "00004" "KCNQ4_000071" "g.41285598G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Mencía 2008:18030493}, {PMID:Gao 2013:23750663}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819926G>A" "" "pathogenic" "" "0000638887" "1" "99" "1" "41285603" "41285603" "subst" "0" "00004" "KCNQ4_000072" "g.41285603G>T" "" "{DB:DVD}, {PMID:Naito 2013:23717403}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40819931G>T" "" "pathogenic" "" "0000638888" "1" "99" "1" "41285852" "41285852" "subst" "0" "00004" "KCNQ4_000032" "g.41285852G>A" "" "{DB:DVD}, {PMID:Smith 1993:20301388}, {PMID:Coucke 1999:10369879}, {PMID:Shearer 1993:20301607}, {PMID:Gao 2013:23750663}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40820180G>A" "" "pathogenic" "" "0000638889" "1" "99" "1" "41287988" "41287995" "del" "0" "00004" "KCNQ4_000073" "g.41287988_41287995del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Wasano 2015:26036578}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40822316_40822323del" "" "pathogenic" "" "0000638890" "1" "55" "1" "41289800" "41289800" "subst" "0.000216817" "00004" "KCNQ4_000074" "g.41289800C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40824128C>T" "" "VUS" "" "0000638891" "1" "33" "1" "41289901" "41289901" "subst" "2.22612E-5" "00004" "KCNQ4_000075" "g.41289901G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40824229G>A" "" "likely benign" "" "0000638892" "1" "55" "1" "41289905" "41289905" "subst" "1.33051E-5" "00004" "KCNQ4_000076" "g.41289905A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40824233A>C" "" "VUS" "" "0000638893" "1" "55" "1" "41296788" "41296788" "subst" "0.000320693" "00004" "KCNQ4_000077" "g.41296788T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40831116T>C" "" "VUS" "" "0000638894" "1" "55" "1" "41296966" "41296966" "subst" "0" "00004" "KCNQ4_000078" "g.41296966C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}, {PMID:Su 2007:17033161}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40831294C>T" "" "VUS" "" "0000638895" "1" "99" "1" "41298697" "41298697" "subst" "0" "00004" "KCNQ4_000079" "g.41298697G>T" "" "{DB:DVD}, {PMID:Yuen 2015:25621899}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40833025G>T" "" "pathogenic" "" "0000638896" "1" "33" "1" "41300693" "41300693" "subst" "0.000121829" "00004" "KCNQ4_000080" "g.41300693C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40835021C>T" "" "likely benign" "" "0000638897" "1" "55" "1" "41304061" "41304061" "subst" "0" "00004" "KCNQ4_000081" "g.41304061C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40838389C>G" "" "VUS" "" "0000638898" "1" "99" "1" "41304121" "41304121" "subst" "8.12942E-5" "00004" "KCNQ4_000082" "g.41304121G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40838449G>A" "" "pathogenic" "" "0000638899" "1" "99" "1" "41304146" "41304146" "subst" "1.6259E-5" "00004" "KCNQ4_000083" "g.41304146C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301388}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.40838474C>T" "" "pathogenic" "" "0000654036" "0" "50" "1" "41285931" "41285931" "subst" "0" "02327" "KCNQ4_000084" "g.41285931A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40820259A>G" "" "VUS" "" "0000654037" "0" "50" "1" "41296870" "41296870" "subst" "0" "01943" "KCNQ4_000085" "g.41296870G>C" "" "" "" "KCNQ4(NM_004700.3):c.1407G>C (p.Q469H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40831198G>C" "" "VUS" "" "0000688172" "0" "10" "1" "41300690" "41300690" "subst" "0.0301165" "01943" "KCNQ4_000036" "g.41300690G>A" "" "" "" "KCNQ4(NM_004700.3):c.1665G>A (p.P555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000712260" "0" "50" "1" "41285847" "41285847" "subst" "0" "03611" "KCNQ4_000086" "g.41285847G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.40820175G>A" "" "VUS" "ACMG" "0000760858" "0" "50" "1" "41296926" "41296926" "subst" "0.000121029" "03779" "KCNQ4_000087" "g.41296926G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs371301199" "0" "" "" "" "" "VUS" "" "0000799358" "0" "50" "1" "41283890" "41283890" "subst" "0" "02327" "KCNQ4_000088" "g.41283890G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799359" "0" "70" "1" "41285584" "41285584" "subst" "0" "02327" "KCNQ4_000089" "g.41285584C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799360" "0" "30" "1" "41285883" "41285883" "subst" "0" "02327" "KCNQ4_000090" "g.41285883G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799361" "0" "30" "1" "41303975" "41303975" "subst" "2.87227E-5" "01943" "KCNQ4_000091" "g.41303975G>A" "" "" "" "KCNQ4(NM_004700.3):c.1876-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000822859" "0" "50" "1" "41285137" "41285137" "subst" "0" "00006" "KCNQ4_000092" "g.41285137G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000848739" "0" "50" "1" "41296980" "41296980" "subst" "0" "02327" "KCNQ4_000094" "g.41296980A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857496" "0" "50" "1" "41285904" "41285904" "subst" "7.6678E-5" "02327" "KCNQ4_000093" "g.41285904G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883453" "0" "50" "1" "41285127" "41285127" "subst" "0" "02327" "KCNQ4_000095" "g.41285127T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911072" "0" "50" "1" "41285626" "41285626" "subst" "0" "02327" "KCNQ4_000096" "g.41285626T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917922" "0" "50" "1" "41282945" "41282945" "subst" "0" "03779" "KCNQ4_000097" "g.41282945T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000921780" "0" "50" "1" "41287994" "41287994" "subst" "0" "03779" "KCNQ4_000098" "g.41287994G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000921781" "0" "90" "1" "41287994" "41287994" "subst" "0" "03779" "KCNQ4_000098" "g.41287994G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000944333" "0" "70" "1" "41285903" "41285903" "subst" "0" "00006" "KCNQ4_000099" "g.41285903C>G" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40820231C>G" "" "likely pathogenic (dominant)" "" "0000944334" "0" "70" "1" "41296779" "41296779" "subst" "0" "00006" "KCNQ4_000100" "g.41296779G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40831107G>A" "" "likely pathogenic (dominant)" "" "0000973962" "0" "90" "1" "41285131" "41285131" "subst" "0" "02325" "KCNQ4_000024" "g.41285131T>A" "" "" "" "KCNQ4(NM_004700.4):c.821T>A (p.L274H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991285" "0" "30" "1" "41249817" "41249817" "subst" "0" "01804" "KCNQ4_000101" "g.41249817G>A" "" "" "" "KCNQ4(NM_172163.2):c.52G>A (p.(Ala18Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991286" "0" "30" "1" "41249818" "41249818" "subst" "0" "01804" "KCNQ4_000102" "g.41249818C>G" "" "" "" "KCNQ4(NM_172163.2):c.53C>G (p.(Ala18Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991287" "0" "30" "1" "41284251" "41284251" "subst" "0" "01804" "KCNQ4_000103" "g.41284251C>G" "" "" "" "KCNQ4(NM_172163.2):c.607C>G (p.(Leu203Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044856" "1" "90" "1" "41284190" "41284190" "subst" "0.000317618" "00006" "KCNQ4_000055" "g.41284190C>G" "3/1291 cases hearing loss" "{PMID:Su 2007:17033161}, {PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.40818518C>G" "" "pathogenic (dominant)" "" "0001044857" "1" "90" "1" "41304121" "41304121" "subst" "8.12942E-5" "00006" "KCNQ4_000082" "g.41304121G>A" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.40838449G>A" "" "pathogenic (dominant)" "" "0001044858" "1" "90" "1" "41304146" "41304146" "subst" "1.6259E-5" "00006" "KCNQ4_000083" "g.41304146C>T" "1/1291 cases hearing loss" "{PMID:Wu 2013: 23451214}, {PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.40838474C>T" "" "pathogenic (dominant)" "" "0001050074" "0" "30" "1" "41296962" "41296962" "subst" "6.03893E-5" "01804" "KCNQ4_000104" "g.41296962G>A" "" "" "" "KCNQ4(NM_004700.4):c.1499G>A (p.(Arg500His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 KCNQ4 ## Count = 122 "{{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}}" "0000089921" "00010416" "50" "1473" "0" "1473" "0" "c.1473C>G" "r.(?)" "p.(Phe491Leu)" "" "0000281737" "00010416" "10" "708" "14" "708" "14" "c.708+14G>C" "r.(=)" "p.(=)" "" "0000281738" "00010416" "10" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Ala259=)" "" "0000290094" "00010416" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Pro396=)" "" "0000290095" "00010416" "50" "1262" "0" "1262" "0" "c.1262C>T" "r.(?)" "p.(Pro421Leu)" "" "0000290096" "00010416" "10" "1365" "0" "1365" "0" "c.1365T>G" "r.(?)" "p.(His455Gln)" "" "0000290097" "00010416" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Arg488=)" "" "0000290098" "00010416" "30" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Asp524=)" "" "0000290099" "00010416" "30" "1818" "0" "1818" "0" "c.1818C>G" "r.(?)" "p.(Asp606Glu)" "" "0000290100" "00010416" "50" "1934" "0" "1934" "0" "c.1934G>T" "r.(?)" "p.(Arg645Leu)" "" "0000290101" "00010416" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Gly222Asp)" "" "0000290102" "00010416" "10" "708" "14" "708" "14" "c.708+14G>C" "r.(=)" "p.(=)" "" "0000290103" "00010416" "30" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Ala259=)" "" "0000290104" "00010416" "30" "777" "0" "777" "0" "c.777T>G" "r.(?)" "p.(Ala259=)" "" "0000290106" "00010416" "90" "827" "0" "827" "0" "c.827G>C" "r.(?)" "p.(Trp276Ser)" "" "0000290107" "00010416" "10" "834" "27" "834" "27" "c.834+27C>A" "r.(=)" "p.(=)" "" "0000338053" "00010416" "10" "315" "-18" "315" "-18" "c.315-18C>T" "r.(=)" "p.(=)" "" "0000338054" "00010416" "10" "315" "-16" "315" "-16" "c.315-16C>T" "r.(=)" "p.(=)" "" "0000338055" "00010416" "10" "708" "14" "708" "14" "c.708+14G>C" "r.(=)" "p.(=)" "" "0000338056" "00010416" "30" "2199" "0" "2199" "0" "c.*111A>G" "r.(=)" "p.(=)" "" "0000340052" "00010416" "10" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Ala259=)" "" "0000340053" "00010416" "10" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Leu281=)" "" "0000340054" "00010416" "10" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Pro291=)" "" "0000340055" "00010416" "10" "879" "0" "879" "0" "c.879A>G" "r.(?)" "p.(Thr293=)" "" "0000340056" "00010416" "10" "1657" "0" "1657" "0" "c.1657C>T" "r.(?)" "p.(Leu553=)" "" "0000340914" "00010416" "10" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Pro396=)" "" "0000340925" "00010416" "10" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Pro555=)" "" "0000341324" "00010416" "70" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Ala271Thr)" "" "0000341375" "00010416" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Ala323Val)" "" "0000342249" "00010416" "50" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Arg213Pro)" "" "0000342570" "00010416" "70" "890" "0" "890" "0" "c.890G>C" "r.(?)" "p.(Arg297Thr)" "" "0000343002" "00010416" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Arg492Gln)" "" "0000345122" "00010416" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Glu136Lys)" "" "0000345875" "00010416" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Gly222Asp)" "" "0000345889" "00010416" "30" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Gly228Cys)" "" "0000346480" "00010416" "10" "1365" "0" "1365" "0" "c.1365T>G" "r.(?)" "p.(His455Gln)" "" "0000347060" "00010416" "90" "821" "0" "821" "0" "c.821T>A" "r.(?)" "p.(Leu274His)" "" "0000348349" "00010416" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "" "0000349411" "00010416" "30" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Thr282Ala)" "" "0000349756" "00010416" "90" "827" "0" "827" "0" "c.827G>C" "r.(?)" "p.(Trp276Ser)" "" "0000350017" "00010416" "50" "808" "0" "808" "0" "c.808T>A" "r.(?)" "p.(Tyr270Asn)" "" "0000350592" "00010416" "50" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Val561Ile)" "" "0000351181" "00010416" "90" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0000507456" "00010416" "70" "650" "0" "650" "0" "c.650T>G" "r.(?)" "p.(Met217Arg)" "" "0000507457" "00010416" "50" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Tyr286Cys)" "" "0000507458" "00010416" "10" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Leu324=)" "" "0000507459" "00010416" "30" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500Cys)" "" "0000507460" "00010416" "30" "1613" "14" "1613" "14" "c.1613+14C>G" "r.(=)" "p.(=)" "" "0000507461" "00010416" "10" "1986" "0" "1986" "0" "c.1986C>G" "r.(?)" "p.(Pro662=)" "" "0000605760" "00010416" "70" "110" "0" "110" "0" "c.110dup" "r.(?)" "p.(Gly38ArgfsTer198)" "" "0000605762" "00010416" "50" "1030" "0" "1030" "0" "c.1030A>G" "r.(?)" "p.(Asn344Asp)" "" "0000605763" "00010416" "50" "1874" "0" "1874" "0" "c.1874A>C" "r.(?)" "p.(Gln625Pro)" "" "0000605764" "00010416" "70" "1875" "1" "1875" "1" "c.1875+1G>T" "r.spl?" "p.?" "" "0000620635" "00010416" "90" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Gly285Ser)" "" "0000620636" "00010416" "50" "940" "0" "940" "0" "c.940C>A" "r.(?)" "p.(Pro314Thr)" "" "0000638860" "00010416" "99" "211" "0" "211" "0" "c.211del" "r.(?)" "p.(Gln71Serfs*68)" "1" "0000638861" "00010416" "99" "212" "0" "224" "0" "c.212_224del" "r.(?)" "p.(Gln71Profs*64)" "1" "0000638862" "00010416" "99" "228" "0" "229" "0" "c.228_229dup" "r.(?)" "p.(His77Argfs*63)" "1" "0000638863" "00010416" "33" "438" "0" "438" "0" "c.438G>A" "r.(=)" "p.(=)" "3" "0000638864" "00010416" "99" "459" "0" "459" "0" "c.459del" "r.(?)" "p.(Ala154Profs*85)" "3" "0000638865" "00010416" "33" "465" "0" "465" "0" "c.465A>C" "r.(=)" "p.(=)" "3" "0000638866" "00010416" "99" "546" "0" "546" "0" "c.546C>G" "r.(?)" "p.(Phe182Leu)" "4" "0000638867" "00010416" "55" "648" "0" "648" "0" "c.648C>T" "r.(=)" "p.(=)" "4" "0000638868" "00010416" "99" "667" "0" "684" "0" "c.667_684del" "r.(?)" "p.(Thr223_Gly228del)" "4" "0000638869" "00010416" "99" "689" "0" "689" "0" "c.689T>A" "r.(?)" "p.(Val230Glu)" "4" "0000638870" "00010416" "33" "699" "0" "699" "0" "c.699G>C" "r.(=)" "p.(=)" "4" "0000638871" "00010416" "99" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Trp242*)" "5" "0000638872" "00010416" "99" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Glu260Lys)" "5" "0000638873" "00010416" "99" "785" "0" "785" "0" "c.785A>T" "r.(?)" "p.(Asp262Val)" "5" "0000638874" "00010416" "99" "806" "0" "808" "0" "c.806_808del" "r.(?)" "p.(Ser269del)" "5" "0000638875" "00010416" "99" "808" "0" "808" "0" "c.808T>C" "r.(?)" "p.(Tyr270His)" "5" "0000638876" "00010416" "99" "821" "0" "821" "0" "c.821T>A" "r.(?)" "p.(Leu274His)" "5" "0000638877" "00010416" "99" "823" "0" "823" "0" "c.823T>C" "r.(?)" "p.(Trp275Arg)" "5" "0000638878" "00010416" "99" "827" "0" "827" "0" "c.827G>C" "r.(?)" "p.(Trp276Ser)" "5" "0000638879" "00010416" "55" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Arg)" "5" "0000638880" "00010416" "99" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Leu281Ser)" "6" "0000638881" "00010416" "99" "853" "0" "853" "0" "c.853G>T" "r.(?)" "p.(Gly285Cys)" "6" "0000638882" "00010416" "99" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Gly285Ser)" "6" "0000638883" "00010416" "99" "859" "0" "859" "0" "c.859G>C" "r.(?)" "p.(Gly287Arg)" "6" "0000638884" "00010416" "99" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Pro291Ser)" "6" "0000638885" "00010416" "99" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "6" "0000638886" "00010416" "99" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Ser)" "6" "0000638887" "00010416" "99" "891" "0" "891" "0" "c.891G>T" "r.(?)" "p.(Arg297Ser)" "6" "0000638888" "00010416" "99" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "7" "0000638889" "00010416" "99" "1044" "0" "1051" "0" "c.1044_1051del" "r.(?)" "p.(Ala349Profs*19)" "8" "0000638890" "00010416" "55" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "9" "0000638891" "00010416" "33" "1263" "0" "1263" "0" "c.1263G>A" "r.(=)" "p.(=)" "9" "0000638892" "00010416" "55" "1267" "0" "1267" "0" "c.1267A>C" "r.(?)" "p.(Ser423Arg)" "9" "0000638893" "00010416" "55" "1325" "0" "1325" "0" "c.1325T>C" "r.(?)" "p.(Met442Thr)" "10" "0000638894" "00010416" "55" "1503" "0" "1503" "0" "c.1503C>T" "r.(=)" "p.(=)" "10" "0000638895" "00010416" "99" "1525" "0" "1525" "0" "c.1525G>T" "r.(?)" "p.(Glu509*)" "11" "0000638896" "00010416" "33" "1668" "0" "1668" "0" "c.1668C>T" "r.(=)" "p.(=)" "12" "0000638897" "00010416" "55" "1954" "0" "1954" "0" "c.1954C>G" "r.(?)" "p.(Leu652Val)" "14" "0000638898" "00010416" "99" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Val672Met)" "14" "0000638899" "00010416" "99" "2039" "0" "2039" "0" "c.2039C>T" "r.(?)" "p.(Ser680Phe)" "14" "0000654036" "00010416" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Gln347Arg)" "" "0000654037" "00010416" "50" "1407" "0" "1407" "0" "c.1407G>C" "r.(?)" "p.(Gln469His)" "" "0000688172" "00010416" "10" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Pro555=)" "" "0000712260" "00010416" "50" "956" "0" "956" "0" "c.956G>A" "r.(?)" "p.(Gly319Asp)" "" "0000760858" "00010416" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "" "0000799358" "00010416" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Ala154Thr)" "" "0000799359" "00010416" "70" "872" "0" "872" "0" "c.872C>A" "r.(?)" "p.(Pro291Gln)" "" "0000799360" "00010416" "30" "992" "0" "992" "0" "c.992G>C" "r.(?)" "p.(Arg331Pro)" "" "0000799361" "00010416" "30" "1876" "-8" "1876" "-8" "c.1876-8G>A" "r.(=)" "p.(=)" "" "0000822859" "00010416" "50" "827" "0" "827" "0" "c.827G>T" "r.(?)" "p.(Trp276Leu)" "" "0000848739" "00010416" "50" "1513" "4" "1513" "4" "c.1513+4A>G" "r.spl?" "p.?" "" "0000857496" "00010416" "50" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Arg338Gln)" "" "0000883453" "00010416" "50" "817" "0" "817" "0" "c.817T>C" "r.(?)" "p.(Ser273Pro)" "" "0000911072" "00010416" "50" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Leu305Ser)" "" "0000917922" "00010416" "50" "323" "0" "323" "0" "c.323T>G" "r.(?)" "p.(Leu108Arg)" "" "0000921780" "00010416" "50" "1050" "0" "1050" "0" "c.1050G>T" "r.(?)" "p.(Trp350Cys)" "" "0000921781" "00010416" "90" "1050" "0" "1050" "0" "c.1050G>T" "r.(?)" "p.(Trp350Cys)" "" "0000944333" "00010416" "70" "1012" "0" "1012" "0" "c.1012C>G" "r.(?)" "p.(Arg338Gly)" "" "0000944334" "00010416" "70" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439His)" "" "0000973962" "00010416" "90" "821" "0" "821" "0" "c.821T>A" "r.(?)" "p.(Leu274His)" "" "0000991285" "00010416" "30" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Ala18Thr)" "" "0000991286" "00010416" "30" "53" "0" "53" "0" "c.53C>G" "r.(?)" "p.(Ala18Gly)" "" "0000991287" "00010416" "30" "607" "0" "607" "0" "c.607C>G" "r.(?)" "p.(Leu203Val)" "" "0001044856" "00010416" "90" "546" "0" "546" "0" "c.546C>G" "r,(?)" "p.(Phe182Leu)" "" "0001044857" "00010416" "90" "2014" "0" "2014" "0" "c.2014G>A" "r,(?)" "p.(Val672Met)" "" "0001044858" "00010416" "90" "2039" "0" "2039" "0" "c.2039C>T" "r,(?)" "p.(Ser680Phe)" "" "0001050074" "00010416" "30" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Arg500His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000059122" "0000089921" "0000283118" "0000638860" "0000283119" "0000638861" "0000283120" "0000638862" "0000283121" "0000638863" "0000283122" "0000638864" "0000283123" "0000638865" "0000283124" "0000638866" "0000283125" "0000638867" "0000283126" "0000638868" "0000283127" "0000638869" "0000283128" "0000638870" "0000283129" "0000638871" "0000283130" "0000638872" "0000283131" "0000638873" "0000283132" "0000638874" "0000283133" "0000638875" "0000283134" "0000638876" "0000283135" "0000638877" "0000283136" "0000638878" "0000283137" "0000638879" "0000283138" "0000638880" "0000283139" "0000638881" "0000283140" "0000638882" "0000283141" "0000638883" "0000283142" "0000638884" "0000283143" "0000638885" "0000283144" "0000638886" "0000283145" "0000638887" "0000283146" "0000638888" "0000283147" "0000638889" "0000283148" "0000638890" "0000283149" "0000638891" "0000283150" "0000638892" "0000283151" "0000638893" "0000283152" "0000638894" "0000283153" "0000638895" "0000283154" "0000638896" "0000283155" "0000638897" "0000283156" "0000638898" "0000283157" "0000638899" "0000328315" "0000712260" "0000392531" "0000822859" "0000442974" "0000944333" "0000442975" "0000944334" "0000467087" "0001044856" "0000467088" "0001044857" "0000467089" "0001044858"