Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2527923T>ACA006957KCNQ1n.184-5T>A
c.126-5T>A (n.126-5T>A)
c.387-5T>A (n.387-5T>A)
c.6-5T>A (n.6-5T>A)
c.33-5T>A (n.33-5T>A)
n.256-5T>A
c.177-5T>A (n.177-5T>A)
 ClinVar dbSNP gnomAD v4
11g.2527923T>GCA1948196738KCNQ1n.184-5T>G
c.126-5T>G (n.126-5T>G)
c.387-5T>G (n.387-5T>G)
c.6-5T>G (n.6-5T>G)
c.33-5T>G (n.33-5T>G)
n.256-5T>G
c.177-5T>G (n.177-5T>G)
 dbSNP
11g.2527923T=CA1948196737KCNQ1n.184-5T=
c.126-5T= (n.126-5T=)
c.387-5T= (n.387-5T=)
c.6-5T= (n.6-5T=)
c.33-5T= (n.33-5T=)
n.256-5T=
c.177-5T= (n.177-5T=)
11g.2527924G>TCA2697558822KCNQ1n.184-4G>T
c.126-4G>T (n.126-4G>T)
c.387-4G>T (n.387-4G>T)
c.6-4G>T (n.6-4G>T)
c.33-4G>T (n.33-4G>T)
n.256-4G>T
c.177-4G>T (n.177-4G>T)
 ClinVar
11g.2527925C=CA1948196739KCNQ1n.184-3C=
c.126-3C= (n.126-3C=)
c.387-3C= (n.387-3C=)
c.6-3C= (n.6-3C=)
c.33-3C= (n.33-3C=)
n.256-3C=
c.177-3C= (n.177-3C=)
11g.2527925C>GCA2499220862KCNQ1n.184-3C>G
c.126-3C>G (n.126-3C>G)
c.387-3C>G (n.387-3C>G)
c.6-3C>G (n.6-3C>G)
c.33-3C>G (n.33-3C>G)
n.256-3C>G
c.177-3C>G (n.177-3C>G)
 ClinVar dbSNP gnomAD v4
11g.2527925C>TCA597101110KCNQ1n.184-3C>T
c.126-3C>T (n.126-3C>T)
c.387-3C>T (n.387-3C>T)
c.6-3C>T (n.6-3C>T)
c.33-3C>T (n.33-3C>T)
n.256-3C>T
c.177-3C>T (n.177-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2527926A>CCA379121089KCNQ1n.184-2A>C
c.126-2A>C (n.126-2A>C)
c.387-2A>C (n.387-2A>C)
c.6-2A>C (n.6-2A>C)
c.33-2A>C (n.33-2A>C)
n.256-2A>C
c.177-2A>C (n.177-2A>C)
11g.2527926A>GCA379121091KCNQ1n.184-2A>G
c.126-2A>G (n.126-2A>G)
c.387-2A>G (n.387-2A>G)
c.6-2A>G (n.6-2A>G)
c.33-2A>G (n.33-2A>G)
n.256-2A>G
c.177-2A>G (n.177-2A>G)
11g.2527926A>TCA379121096KCNQ1n.184-2A>T
c.126-2A>T (n.126-2A>T)
c.387-2A>T (n.387-2A>T)
c.6-2A>T (n.6-2A>T)
c.33-2A>T (n.33-2A>T)
n.256-2A>T
c.177-2A>T (n.177-2A>T)
11g.2527927G>ACA379121097KCNQ1n.184-1G>A
c.126-1G>A (n.126-1G>A)
c.387-1G>A (n.387-1G>A)
c.6-1G>A (n.6-1G>A)
c.33-1G>A (n.33-1G>A)
n.256-1G>A
c.177-1G>A (n.177-1G>A)
11g.2527927G>CCA379121099KCNQ1n.184-1G>C
c.126-1G>C (n.126-1G>C)
c.387-1G>C (n.387-1G>C)
c.6-1G>C (n.6-1G>C)
c.33-1G>C (n.33-1G>C)
n.256-1G>C
c.177-1G>C (n.177-1G>C)
 ClinVar
11g.2527927G>TCA379121101KCNQ1n.184-1G>T
c.126-1G>T (n.126-1G>T)
c.387-1G>T (n.387-1G>T)
c.6-1G>T (n.6-1G>T)
c.33-1G>T (n.33-1G>T)
n.256-1G>T
c.177-1G>T (n.177-1G>T)
11g.2527928C>ACA379121106KCNQ1n.184C>A
c.126C>A (p.Val42=)
c.387C>A (p.Val129=)
c.6C>A (p.Asp2Glu)
c.33C>A (p.Val11=)
n.256C>A
c.177C>A (p.Gly59=)
11g.2527928C>GCA379121113KCNQ1n.184C>G
c.126C>G (p.Val42=)
c.387C>G (p.Val129=)
c.6C>G (p.Asp2Glu)
c.33C>G (p.Val11=)
n.256C>G
c.177C>G (p.Gly59=)
11g.2527928C>TCA472038211KCNQ1n.184C>T
c.126C>T (p.Val42=)
c.387C>T (p.Val129=)
c.6C>T (p.Asp2=)
c.33C>T (p.Val11=)
n.256C>T
c.177C>T (p.Gly59=)
11g.2527929T>ACA379121118KCNQ1n.185T>A
c.127T>A (p.Phe43Ile)
c.388T>A (p.Phe130Ile)
c.7T>A (p.Phe3Ile)
c.34T>A (p.Phe12Ile)
n.257T>A
c.178T>A (p.Phe60Ile)
11g.2527929T>CCA379121128KCNQ1n.185T>C
c.127T>C (p.Phe43Leu)
c.388T>C (p.Phe130Leu)
c.7T>C (p.Phe3Leu)
c.34T>C (p.Phe12Leu)
n.257T>C
c.178T>C (p.Phe60Leu)
11g.2527929T>GCA379121139KCNQ1n.185T>G
c.127T>G (p.Phe43Val)
c.388T>G (p.Phe130Val)
c.7T>G (p.Phe3Val)
c.34T>G (p.Phe12Val)
n.257T>G
c.178T>G (p.Phe60Val)
11g.2527930delCA2574728110KCNQ1n.186del
c.128del (p.Phe43SerfsTer?)
c.389del (p.Phe130SerfsTer?)
c.8del (p.Phe3SerfsTer?)
c.35del (p.Phe12SerfsTer?)
n.258del
c.179del (p.Phe60SerfsTer?)
11g.2527930T>ACA379121143KCNQ1n.186T>A
c.128T>A (p.Phe43Tyr)
c.389T>A (p.Phe130Tyr)
c.8T>A (p.Phe3Tyr)
c.35T>A (p.Phe12Tyr)
n.258T>A
c.179T>A (p.Phe60Tyr)
11g.2527930T>CCA379121145KCNQ1n.186T>C
c.128T>C (p.Phe43Ser)
c.389T>C (p.Phe130Ser)
c.8T>C (p.Phe3Ser)
c.35T>C (p.Phe12Ser)
n.258T>C
c.179T>C (p.Phe60Ser)
11g.2527930T>GCA379121144KCNQ1n.186T>G
c.128T>G (p.Phe43Cys)
c.389T>G (p.Phe130Cys)
c.8T>G (p.Phe3Cys)
c.35T>G (p.Phe12Cys)
n.258T>G
c.179T>G (p.Phe60Cys)
11g.2527931C>ACA379121146KCNQ1n.187C>A
c.129C>A (p.Phe43Leu)
c.390C>A (p.Phe130Leu)
c.9C>A (p.Phe3Leu)
c.36C>A (p.Phe12Leu)
n.259C>A
c.180C>A (p.Phe60Leu)
11g.2527931C>GCA379121150KCNQ1n.187C>G
c.129C>G (p.Phe43Leu)
c.390C>G (p.Phe130Leu)
c.9C>G (p.Phe3Leu)
c.36C>G (p.Phe12Leu)
n.259C>G
c.180C>G (p.Phe60Leu)
11g.2527931C>TCA472038212KCNQ1n.187C>T
c.129C>T (p.Phe43=)
c.390C>T (p.Phe130=)
c.9C>T (p.Phe3=)
c.36C>T (p.Phe12=)
n.259C>T
c.180C>T (p.Phe60=)
 COSMIC COSMIC
11g.2527932C>ACA379121159KCNQ1n.188C>A
c.130C>A (p.Leu44Ile)
c.391C>A (p.Leu131Ile)
c.10C>A (p.Leu4Ile)
c.37C>A (p.Leu13Ile)
n.260C>A
c.181C>A (p.Leu61Ile)
11g.2527932C>GCA379121163KCNQ1n.188C>G
c.130C>G (p.Leu44Val)
c.391C>G (p.Leu131Val)
c.10C>G (p.Leu4Val)
c.37C>G (p.Leu13Val)
n.260C>G
c.181C>G (p.Leu61Val)
11g.2527932C>TCA379121161KCNQ1n.188C>T
c.130C>T (p.Leu44Phe)
c.391C>T (p.Leu131Phe)
c.10C>T (p.Leu4Phe)
c.37C>T (p.Leu13Phe)
n.260C>T
c.181C>T (p.Leu61Phe)
 gnomAD v4
11g.2527933T>ACA379121166KCNQ1n.189T>A
c.131T>A (p.Leu44His)
c.392T>A (p.Leu131His)
c.11T>A (p.Leu4His)
c.38T>A (p.Leu13His)
n.261T>A
c.182T>A (p.Leu61His)
11g.2527933T>CCA006966KCNQ1n.189T>C
c.131T>C (p.Leu44Pro)
c.392T>C (p.Leu131Pro)
c.11T>C (p.Leu4Pro)
c.38T>C (p.Leu13Pro)
n.261T>C
c.182T>C (p.Leu61Pro)
 ClinVar dbSNP
11g.2527933T>GCA379121170KCNQ1n.189T>G
c.131T>G (p.Leu44Arg)
c.392T>G (p.Leu131Arg)
c.11T>G (p.Leu4Arg)
c.38T>G (p.Leu13Arg)
n.261T>G
c.182T>G (p.Leu61Arg)
11g.2527933T=CA1948196740KCNQ1n.189T=
c.131T= (p.Leu44=)
c.392T= (p.Leu131=)
c.11T= (p.Leu4=)
c.38T= (p.Leu13=)
n.261T=
c.182T= (p.Leu61=)
11g.2527934C>ACA472038213KCNQ1n.190C>A
c.132C>A (p.Leu44=)
c.393C>A (p.Leu131=)
c.12C>A (p.Leu4=)
c.39C>A (p.Leu13=)
n.262C>A
c.183C>A (p.Leu61=)
11g.2527934C=CA1948196741KCNQ1n.190C=
c.132C= (p.Leu44=)
c.393C= (p.Leu131=)
c.12C= (p.Leu4=)
c.39C= (p.Leu13=)
n.262C=
c.183C= (p.Leu61=)
11g.2527934C>GCA472038214KCNQ1n.190C>G
c.132C>G (p.Leu44=)
c.393C>G (p.Leu131=)
c.12C>G (p.Leu4=)
c.39C>G (p.Leu13=)
n.262C>G
c.183C>G (p.Leu61=)
11g.2527934C>TCA472038215KCNQ1n.190C>T
c.132C>T (p.Leu44=)
c.393C>T (p.Leu131=)
c.12C>T (p.Leu4=)
c.39C>T (p.Leu13=)
n.262C>T
c.183C>T (p.Leu61=)
 dbSNP
11g.2527935A=CA1948196742KCNQ1n.191A=
c.133A= (p.Ile45=)
c.394A= (p.Ile132=)
c.13A= (p.Ile5=)
c.40A= (p.Ile14=)
n.263A=
c.184A= (p.Ile62=)
11g.2527935A>CCA006975KCNQ1n.191A>C
c.133A>C (p.Ile45Leu)
c.394A>C (p.Ile132Leu)
c.13A>C (p.Ile5Leu)
c.40A>C (p.Ile14Leu)
n.263A>C
c.184A>C (p.Ile62Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2527935A>GCA379121176KCNQ1n.191A>G
c.133A>G (p.Ile45Val)
c.394A>G (p.Ile132Val)
c.13A>G (p.Ile5Val)
c.40A>G (p.Ile14Val)
n.263A>G
c.184A>G (p.Ile62Val)
 gnomAD v4
11g.2527935A>TCA379121177KCNQ1n.191A>T
c.133A>T (p.Ile45Phe)
c.394A>T (p.Ile132Phe)
c.13A>T (p.Ile5Phe)
c.40A>T (p.Ile14Phe)
n.263A>T
c.184A>T (p.Ile62Phe)
11g.2527936T>ACA379121183KCNQ1n.192T>A
c.134T>A (p.Ile45Asn)
c.395T>A (p.Ile132Asn)
c.14T>A (p.Ile5Asn)
c.41T>A (p.Ile14Asn)
n.264T>A
c.185T>A (p.Ile62Asn)
11g.2527936T>CCA379121187KCNQ1n.192T>C
c.134T>C (p.Ile45Thr)
c.395T>C (p.Ile132Thr)
c.14T>C (p.Ile5Thr)
c.41T>C (p.Ile14Thr)
n.264T>C
c.185T>C (p.Ile62Thr)
11g.2527936T>GCA379121196KCNQ1n.192T>G
c.134T>G (p.Ile45Ser)
c.395T>G (p.Ile132Ser)
c.14T>G (p.Ile5Ser)
c.41T>G (p.Ile14Ser)
n.264T>G
c.185T>G (p.Ile62Ser)
11g.2527937C>ACA472038216KCNQ1n.193C>A
c.135C>A (p.Ile45=)
c.396C>A (p.Ile132=)
c.15C>A (p.Ile5=)
c.42C>A (p.Ile14=)
n.265C>A
c.186C>A (p.Ile62=)
11g.2527937C=CA1948196743KCNQ1n.193C=
c.135C= (p.Ile45=)
c.396C= (p.Ile132=)
c.15C= (p.Ile5=)
c.42C= (p.Ile14=)
n.265C=
c.186C= (p.Ile62=)
11g.2527937C>GCA379121197KCNQ1n.193C>G
c.135C>G (p.Ile45Met)
c.396C>G (p.Ile132Met)
c.15C>G (p.Ile5Met)
c.42C>G (p.Ile14Met)
n.265C>G
c.186C>G (p.Ile62Met)
 gnomAD v4
11g.2527937C>TCA472038217KCNQ1n.193C>T
c.135C>T (p.Ile45=)
c.396C>T (p.Ile132=)
c.15C>T (p.Ile5=)
c.42C>T (p.Ile14=)
n.265C>T
c.186C>T (p.Ile62=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.2527938G>ACA006983KCNQ1n.194G>A
c.136G>A (p.Val46Ile)
c.397G>A (p.Val133Ile)
c.16G>A (p.Val6Ile)
c.43G>A (p.Val15Ile)
n.266G>A
c.187G>A (p.Val63Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2527938G>CCA379121198KCNQ1n.194G>C
c.136G>C (p.Val46Leu)
c.397G>C (p.Val133Leu)
c.16G>C (p.Val6Leu)
c.43G>C (p.Val15Leu)
n.266G>C
c.187G>C (p.Val63Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.2527938G=CA1948196744KCNQ1n.194G=
c.136G= (p.Val46=)
c.397G= (p.Val133=)
c.16G= (p.Val6=)
c.43G= (p.Val15=)
n.266G=
c.187G= (p.Val63=)
11g.2527938G>TCA379121199KCNQ1n.194G>T
c.136G>T (p.Val46Phe)
c.397G>T (p.Val133Phe)
c.16G>T (p.Val6Phe)
c.43G>T (p.Val15Phe)
n.266G>T
c.187G>T (p.Val63Phe)
11g.2527939delCA2580615599KCNQ1n.195del
c.137del (p.Val46AlafsTer?)
c.398del (p.Val133AlafsTer?)
c.17del (p.Val6AlafsTer?)
c.44del (p.Val15AlafsTer?)
n.267del
c.188del (p.Val63AlafsTer?)
 ClinVar
11g.2527939T>ACA379121200KCNQ1n.195T>A
c.137T>A (p.Val46Asp)
c.398T>A (p.Val133Asp)
c.17T>A (p.Val6Asp)
c.44T>A (p.Val15Asp)
n.267T>A
c.188T>A (p.Val63Asp)
11g.2527939T>CCA379121206KCNQ1n.195T>C
c.137T>C (p.Val46Ala)
c.398T>C (p.Val133Ala)
c.17T>C (p.Val6Ala)
c.44T>C (p.Val15Ala)
n.267T>C
c.188T>C (p.Val63Ala)
11g.2527939T>GCA379121204KCNQ1n.195T>G
c.137T>G (p.Val46Gly)
c.398T>G (p.Val133Gly)
c.17T>G (p.Val6Gly)
c.44T>G (p.Val15Gly)
n.267T>G
c.188T>G (p.Val63Gly)
11g.2527940C>ACA472038220KCNQ1n.196C>A
c.138C>A (p.Val46=)
c.399C>A (p.Val133=)
c.18C>A (p.Val6=)
c.45C>A (p.Val15=)
n.268C>A
c.189C>A (p.Val63=)
 dbSNP
11g.2527940C>GCA472038218KCNQ1n.196C>G
c.138C>G (p.Val46=)
c.399C>G (p.Val133=)
c.18C>G (p.Val6=)
c.45C>G (p.Val15=)
n.268C>G
c.189C>G (p.Val63=)
11g.2527940C>TCA472038219KCNQ1n.196C>T
c.138C>T (p.Val46=)
c.399C>T (p.Val133=)
c.18C>T (p.Val6=)
c.45C>T (p.Val15=)
n.268C>T
c.189C>T (p.Val63=)
11g.2527941C>ACA379121211KCNQ1n.197C>A
c.139C>A (p.Leu47Met)
c.400C>A (p.Leu134Met)
c.19C>A (p.Leu7Met)
c.46C>A (p.Leu16Met)
n.269C>A
c.190C>A (p.Leu64Met)
 dbSNP
11g.2527941C=CA1948196745KCNQ1n.197C=
c.139C= (p.Leu47=)
c.400C= (p.Leu134=)
c.19C= (p.Leu7=)
c.46C= (p.Leu16=)
n.269C=
c.190C= (p.Leu64=)
11g.2527941C>GCA379121222KCNQ1n.197C>G
c.139C>G (p.Leu47Val)
c.400C>G (p.Leu134Val)
c.19C>G (p.Leu7Val)
c.46C>G (p.Leu16Val)
n.269C>G
c.190C>G (p.Leu64Val)
11g.2527941C>TCA472038221KCNQ1n.197C>T
c.139C>T (p.Leu47=)
c.400C>T (p.Leu134=)
c.19C>T (p.Leu7=)
c.46C>T (p.Leu16=)
n.269C>T
c.190C>T (p.Leu64=)
11g.2527942T>ACA379121225KCNQ1n.198T>A
c.140T>A (p.Leu47Gln)
c.401T>A (p.Leu134Gln)
c.20T>A (p.Leu7Gln)
c.47T>A (p.Leu16Gln)
n.270T>A
c.191T>A (p.Leu64Gln)
11g.2527942T>CCA006992KCNQ1n.198T>C
c.140T>C (p.Leu47Pro)
c.401T>C (p.Leu134Pro)
c.20T>C (p.Leu7Pro)
c.47T>C (p.Leu16Pro)
n.270T>C
c.191T>C (p.Leu64Pro)
 ClinVar dbSNP gnomAD v4
11g.2527942T>GCA379121232KCNQ1n.198T>G
c.140T>G (p.Leu47Arg)
c.401T>G (p.Leu134Arg)
c.20T>G (p.Leu7Arg)
c.47T>G (p.Leu16Arg)
n.270T>G
c.191T>G (p.Leu64Arg)
11g.2527942T=CA1948196747KCNQ1n.198T=
c.140T= (p.Leu47=)
c.401T= (p.Leu134=)
c.20T= (p.Leu7=)
c.47T= (p.Leu16=)
n.270T=
c.191T= (p.Leu64=)
11g.2527942_2527943delinsTGCA1948196746KCNQ1n.198_199delinsTG
c.140_141delinsTG (p.Leu47=)
c.401_402delinsTG (p.Leu134=)
c.20_21delinsTG (p.Leu7=)
c.47_48delinsTG (p.Leu16=)
n.270_271delinsTG
c.191_192delinsTG (p.Leu64=)
11g.2527943G>ACA472038222KCNQ1n.199G>A
c.141G>A (p.Leu47=)
c.402G>A (p.Leu134=)
c.21G>A (p.Leu7=)
c.48G>A (p.Leu16=)
n.271G>A
c.192G>A (p.Leu64=)
11g.2527943G>CCA472038223KCNQ1n.199G>C
c.141G>C (p.Leu47=)
c.402G>C (p.Leu134=)
c.21G>C (p.Leu7=)
c.48G>C (p.Leu16=)
n.271G>C
c.192G>C (p.Leu64=)
 ClinVar dbSNP gnomAD v4
11g.2527943G=CA1948196748KCNQ1n.199G=
c.141G= (p.Leu47=)
c.402G= (p.Leu134=)
c.21G= (p.Leu7=)
c.48G= (p.Leu16=)
n.271G=
c.192G= (p.Leu64=)
11g.2527943G>TCA472038224KCNQ1n.199G>T
c.141G>T (p.Leu47=)
c.402G>T (p.Leu134=)
c.21G>T (p.Leu7=)
c.48G>T (p.Leu16=)
n.271G>T
c.192G>T (p.Leu64=)
11g.2527944delCA007001KCNQ1n.200del
c.142del (p.Val48SerfsTer?)
c.403del (p.Val135SerfsTer?)
c.22del (p.Val8SerfsTer?)
c.49del (p.Val17SerfsTer?)
n.272del
c.193del (p.Val65SerfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2527944G>ACA379121234KCNQ1n.200G>A
c.142G>A (p.Val48Ile)
c.403G>A (p.Val135Ile)
c.22G>A (p.Val8Ile)
c.49G>A (p.Val17Ile)
n.272G>A
c.193G>A (p.Val65Ile)
11g.2527944G>CCA379121237KCNQ1n.200G>C
c.142G>C (p.Val48Leu)
c.403G>C (p.Val135Leu)
c.22G>C (p.Val8Leu)
c.49G>C (p.Val17Leu)
n.272G>C
c.193G>C (p.Val65Leu)
11g.2527944G>TCA379121240KCNQ1n.200G>T
c.142G>T (p.Val48Phe)
c.403G>T (p.Val135Phe)
c.22G>T (p.Val8Phe)
c.49G>T (p.Val17Phe)
n.272G>T
c.193G>T (p.Val65Phe)
11g.2527945T>ACA379121253KCNQ1n.201T>A
c.143T>A (p.Val48Asp)
c.404T>A (p.Val135Asp)
c.23T>A (p.Val8Asp)
c.50T>A (p.Val17Asp)
n.273T>A
c.194T>A (p.Val65Asp)
 gnomAD v4
11g.2527945T>CCA379121250KCNQ1n.201T>C
c.143T>C (p.Val48Ala)
c.404T>C (p.Val135Ala)
c.23T>C (p.Val8Ala)
c.50T>C (p.Val17Ala)
n.273T>C
c.194T>C (p.Val65Ala)
11g.2527945T>GCA379121244KCNQ1n.201T>G
c.143T>G (p.Val48Gly)
c.404T>G (p.Val135Gly)
c.23T>G (p.Val8Gly)
c.50T>G (p.Val17Gly)
n.273T>G
c.194T>G (p.Val65Gly)
11g.2527946C>ACA472038225KCNQ1n.202C>A
c.144C>A (p.Val48=)
c.405C>A (p.Val135=)
c.24C>A (p.Val8=)
c.51C>A (p.Val17=)
n.274C>A
c.195C>A (p.Val65=)
11g.2527946C>GCA472038227KCNQ1n.202C>G
c.144C>G (p.Val48=)
c.405C>G (p.Val135=)
c.24C>G (p.Val8=)
c.51C>G (p.Val17=)
n.274C>G
c.195C>G (p.Val65=)
11g.2527946C>TCA472038226KCNQ1n.202C>T
c.144C>T (p.Val48=)
c.405C>T (p.Val135=)
c.24C>T (p.Val8=)
c.51C>T (p.Val17=)
n.274C>T
c.195C>T (p.Val65=)
11g.2527947T>ACA379121256KCNQ1n.203T>A
c.145T>A (p.Cys49Ser)
c.406T>A (p.Cys136Ser)
c.25T>A (p.Cys9Ser)
c.52T>A (p.Cys18Ser)
n.275T>A
c.196T>A (p.Cys66Ser)
11g.2527947T>CCA379121257KCNQ1n.203T>C
c.145T>C (p.Cys49Arg)
c.406T>C (p.Cys136Arg)
c.25T>C (p.Cys9Arg)
c.52T>C (p.Cys18Arg)
n.275T>C
c.196T>C (p.Cys66Arg)
11g.2527947T>GCA379121263KCNQ1n.203T>G
c.145T>G (p.Cys49Gly)
c.406T>G (p.Cys136Gly)
c.25T>G (p.Cys9Gly)
c.52T>G (p.Cys18Gly)
n.275T>G
c.196T>G (p.Cys66Gly)
11g.2527948G>ACA379121276KCNQ1n.204G>A
c.146G>A (p.Cys49Tyr)
c.407G>A (p.Cys136Tyr)
c.26G>A (p.Cys9Tyr)
c.53G>A (p.Cys18Tyr)
n.276G>A
c.197G>A (p.Cys66Tyr)
 gnomAD v4
11g.2527948G>CCA379121278KCNQ1n.204G>C
c.146G>C (p.Cys49Ser)
c.407G>C (p.Cys136Ser)
c.26G>C (p.Cys9Ser)
c.53G>C (p.Cys18Ser)
n.276G>C
c.197G>C (p.Cys66Ser)
11g.2527948G=CA1948196749KCNQ1n.204G=
c.146G= (p.Cys49=)
c.407G= (p.Cys136=)
c.26G= (p.Cys9=)
c.53G= (p.Cys18=)
n.276G=
c.197G= (p.Cys66=)
11g.2527948G>TCA007007KCNQ1n.204G>T
c.146G>T (p.Cys49Phe)
c.407G>T (p.Cys136Phe)
c.26G>T (p.Cys9Phe)
c.53G>T (p.Cys18Phe)
n.276G>T
c.197G>T (p.Cys66Phe)
 ClinVar dbSNP gnomAD v4
11g.2527949C>ACA379121281KCNQ1n.205C>A
c.147C>A (p.Cys49Ter)
c.408C>A (p.Cys136Ter)
c.27C>A (p.Cys9Ter)
c.54C>A (p.Cys18Ter)
n.277C>A
c.198C>A (p.Cys66Ter)
 gnomAD v4
11g.2527949C=CA1948196750KCNQ1n.205C=
c.147C= (p.Cys49=)
c.408C= (p.Cys136=)
c.27C= (p.Cys9=)
c.54C= (p.Cys18=)
n.277C=
c.198C= (p.Cys66=)
11g.2527949C>GCA379121285KCNQ1n.205C>G
c.147C>G (p.Cys49Trp)
c.408C>G (p.Cys136Trp)
c.27C>G (p.Cys9Trp)
c.54C>G (p.Cys18Trp)
n.277C>G
c.198C>G (p.Cys66Trp)
11g.2527949C>TCA472038228KCNQ1n.205C>T
c.147C>T (p.Cys49=)
c.408C>T (p.Cys136=)
c.27C>T (p.Cys9=)
c.54C>T (p.Cys18=)
n.277C>T
c.198C>T (p.Cys66=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2527950C>ACA379121290KCNQ1n.206C>A
c.148C>A (p.Leu50Ile)
c.409C>A (p.Leu137Ile)
c.28C>A (p.Leu10Ile)
c.55C>A (p.Leu19Ile)
n.278C>A
c.199C>A (p.Leu67Ile)
11g.2527950C=CA1948196751KCNQ1n.206C=
c.148C= (p.Leu50=)
c.409C= (p.Leu137=)
c.28C= (p.Leu10=)
c.55C= (p.Leu19=)
n.278C=
c.199C= (p.Leu67=)
11g.2527950C>GCA379121292KCNQ1n.206C>G
c.148C>G (p.Leu50Val)
c.409C>G (p.Leu137Val)
c.28C>G (p.Leu10Val)
c.55C>G (p.Leu19Val)
n.278C>G
c.199C>G (p.Leu67Val)
11g.2527950C>TCA007018KCNQ1n.206C>T
c.148C>T (p.Leu50Phe)
c.409C>T (p.Leu137Phe)
c.28C>T (p.Leu10Phe)
c.55C>T (p.Leu19Phe)
n.278C>T
c.199C>T (p.Leu67Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2527951T>ACA379121306KCNQ1n.207T>A
c.149T>A (p.Leu50His)
c.410T>A (p.Leu137His)
c.29T>A (p.Leu10His)
c.56T>A (p.Leu19His)
n.279T>A
c.200T>A (p.Leu67His)
11g.2527951T>CCA379121302KCNQ1n.207T>C
c.149T>C (p.Leu50Pro)
c.410T>C (p.Leu137Pro)
c.29T>C (p.Leu10Pro)
c.56T>C (p.Leu19Pro)
n.279T>C
c.200T>C (p.Leu67Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2527951T>GCA379121298KCNQ1n.207T>G
c.149T>G (p.Leu50Arg)
c.410T>G (p.Leu137Arg)
c.29T>G (p.Leu10Arg)
c.56T>G (p.Leu19Arg)
n.279T>G
c.200T>G (p.Leu67Arg)
11g.2527951T=CA1948196752KCNQ1n.207T=
c.149T= (p.Leu50=)
c.410T= (p.Leu137=)
c.29T= (p.Leu10=)
c.56T= (p.Leu19=)
n.279T=
c.200T= (p.Leu67=)
11g.2527952C>ACA216319409KCNQ1n.208C>A
c.150C>A (p.Leu50=)
c.411C>A (p.Leu137=)
c.30C>A (p.Leu10=)
c.57C>A (p.Leu19=)
n.280C>A
c.201C>A (p.Leu67=)
 dbSNP gnomAD v2 gnomAD v4
11g.2527952C=CA1948196753KCNQ1n.208C=
c.150C= (p.Leu50=)
c.411C= (p.Leu137=)
c.30C= (p.Leu10=)
c.57C= (p.Leu19=)
n.280C=
c.201C= (p.Leu67=)
11g.2527952C>GCA472038229KCNQ1n.208C>G
c.150C>G (p.Leu50=)
c.411C>G (p.Leu137=)
c.30C>G (p.Leu10=)
c.57C>G (p.Leu19=)
n.280C>G
c.201C>G (p.Leu67=)
11g.2527952C>TCA472038230KCNQ1n.208C>T
c.150C>T (p.Leu50=)
c.411C>T (p.Leu137=)
c.30C>T (p.Leu10=)
c.57C>T (p.Leu19=)
n.280C>T
c.201C>T (p.Leu67=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2527953A>CCA379121309KCNQ1n.209A>C
c.151A>C (p.Ile51Leu)
c.412A>C (p.Ile138Leu)
c.31A>C (p.Ile11Leu)
c.58A>C (p.Ile20Leu)
n.281A>C
c.202A>C (p.Ile68Leu)
11g.2527953A>GCA379121312KCNQ1n.209A>G
c.151A>G (p.Ile51Val)
c.412A>G (p.Ile138Val)
c.31A>G (p.Ile11Val)
c.58A>G (p.Ile20Val)
n.281A>G
c.202A>G (p.Ile68Val)
11g.2527953A>TCA379121315KCNQ1n.209A>T
c.151A>T (p.Ile51Phe)
c.412A>T (p.Ile138Phe)
c.31A>T (p.Ile11Phe)
c.58A>T (p.Ile20Phe)
n.281A>T
c.202A>T (p.Ile68Phe)
11g.2527954T>ACA379121319KCNQ1n.210T>A
c.152T>A (p.Ile51Asn)
c.413T>A (p.Ile138Asn)
c.32T>A (p.Ile11Asn)
c.59T>A (p.Ile20Asn)
n.282T>A
c.203T>A (p.Ile68Asn)
11g.2527954T>CCA379121323KCNQ1n.210T>C
c.152T>C (p.Ile51Thr)
c.413T>C (p.Ile138Thr)
c.32T>C (p.Ile11Thr)
c.59T>C (p.Ile20Thr)
n.282T>C
c.203T>C (p.Ile68Thr)
11g.2527954T>GCA379121326KCNQ1n.210T>G
c.152T>G (p.Ile51Ser)
c.413T>G (p.Ile138Ser)
c.32T>G (p.Ile11Ser)
c.59T>G (p.Ile20Ser)
n.282T>G
c.203T>G (p.Ile68Ser)
11g.2527955C>ACA472038231KCNQ1n.211C>A
c.153C>A (p.Ile51=)
c.414C>A (p.Ile138=)
c.33C>A (p.Ile11=)
c.60C>A (p.Ile20=)
n.283C>A
c.204C>A (p.Ile68=)
11g.2527955C>GCA379121328KCNQ1n.211C>G
c.153C>G (p.Ile51Met)
c.414C>G (p.Ile138Met)
c.33C>G (p.Ile11Met)
c.60C>G (p.Ile20Met)
n.283C>G
c.204C>G (p.Ile68Met)
11g.2527955C>TCA472038232KCNQ1n.211C>T
c.153C>T (p.Ile51=)
c.414C>T (p.Ile138=)
c.33C>T (p.Ile11=)
c.60C>T (p.Ile20=)
n.283C>T
c.204C>T (p.Ile68=)
11g.2527956T>ACA379121333KCNQ1n.212T>A
c.154T>A (p.Phe52Ile)
c.415T>A (p.Phe139Ile)
c.34T>A (p.Phe12Ile)
c.61T>A (p.Phe21Ile)
n.284T>A
c.205T>A (p.Phe69Ile)
11g.2527956T>CCA379121338KCNQ1n.212T>C
c.154T>C (p.Phe52Leu)
c.415T>C (p.Phe139Leu)
c.34T>C (p.Phe12Leu)
c.61T>C (p.Phe21Leu)
n.284T>C
c.205T>C (p.Phe69Leu)
 dbSNP
11g.2527956T>GCA379121342KCNQ1n.212T>G
c.154T>G (p.Phe52Val)
c.415T>G (p.Phe139Val)
c.34T>G (p.Phe12Val)
c.61T>G (p.Phe21Val)
n.284T>G
c.205T>G (p.Phe69Val)
11g.2527956T=CA1948196754KCNQ1n.212T=
c.154T= (p.Phe52=)
c.415T= (p.Phe139=)
c.34T= (p.Phe12=)
c.61T= (p.Phe21=)
n.284T=
c.205T= (p.Phe69=)
11g.2527957T>ACA379121346KCNQ1n.213T>A
c.155T>A (p.Phe52Tyr)
c.416T>A (p.Phe139Tyr)
c.35T>A (p.Phe12Tyr)
c.62T>A (p.Phe21Tyr)
n.285T>A
c.206T>A (p.Phe69Tyr)
11g.2527957T>CCA379121348KCNQ1n.213T>C
c.155T>C (p.Phe52Ser)
c.416T>C (p.Phe139Ser)
c.35T>C (p.Phe12Ser)
c.62T>C (p.Phe21Ser)
n.285T>C
c.206T>C (p.Phe69Ser)
11g.2527957T>GCA379121349KCNQ1n.213T>G
c.155T>G (p.Phe52Cys)
c.416T>G (p.Phe139Cys)
c.35T>G (p.Phe12Cys)
c.62T>G (p.Phe21Cys)
n.285T>G
c.206T>G (p.Phe69Cys)
11g.2527958C>ACA379121356KCNQ1n.214C>A
c.156C>A (p.Phe52Leu)
c.417C>A (p.Phe139Leu)
c.36C>A (p.Phe12Leu)
c.63C>A (p.Phe21Leu)
n.286C>A
c.207C>A (p.Phe69Leu)
11g.2527958C=CA1948196755KCNQ1n.214C=
c.156C= (p.Phe52=)
c.417C= (p.Phe139=)
c.36C= (p.Phe12=)
c.63C= (p.Phe21=)
n.286C=
c.207C= (p.Phe69=)
11g.2527958C>GCA379121359KCNQ1n.214C>G
c.156C>G (p.Phe52Leu)
c.417C>G (p.Phe139Leu)
c.36C>G (p.Phe12Leu)
c.63C>G (p.Phe21Leu)
n.286C>G
c.207C>G (p.Phe69Leu)
 gnomAD v4
11g.2527958C>TCA037090KCNQ1n.214C>T
c.156C>T (p.Phe52=)
c.417C>T (p.Phe139=)
c.36C>T (p.Phe12=)
c.63C>T (p.Phe21=)
n.286C>T
c.207C>T (p.Phe69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2527959A=CA1948196756KCNQ1n.215A=
c.157A= (p.Ser53=)
c.418A= (p.Ser140=)
c.37A= (p.Ser13=)
c.64A= (p.Ser22=)
n.287A=
c.208A= (p.Ser70=)
11g.2527959A>CCA379121364KCNQ1n.215A>C
c.157A>C (p.Ser53Arg)
c.418A>C (p.Ser140Arg)
c.37A>C (p.Ser13Arg)
c.64A>C (p.Ser22Arg)
n.287A>C
c.208A>C (p.Ser70Arg)
11g.2527959A>GCA007037KCNQ1n.215A>G
c.157A>G (p.Ser53Gly)
c.418A>G (p.Ser140Gly)
c.37A>G (p.Ser13Gly)
c.64A>G (p.Ser22Gly)
n.287A>G
c.208A>G (p.Ser70Gly)
 ClinVar dbSNP
11g.2527959A>TCA379121367KCNQ1n.215A>T
c.157A>T (p.Ser53Cys)
c.418A>T (p.Ser140Cys)
c.37A>T (p.Ser13Cys)
c.64A>T (p.Ser22Cys)
n.287A>T
c.208A>T (p.Ser70Cys)
11g.2527960G>ACA379121368KCNQ1n.216G>A
c.158G>A (p.Ser53Asn)
c.419G>A (p.Ser140Asn)
c.38G>A (p.Ser13Asn)
c.65G>A (p.Ser22Asn)
n.288G>A
c.209G>A (p.Ser70Asn)
11g.2527960G>CCA379121369KCNQ1n.216G>C
c.158G>C (p.Ser53Thr)
c.419G>C (p.Ser140Thr)
c.38G>C (p.Ser13Thr)
c.65G>C (p.Ser22Thr)
n.288G>C
c.209G>C (p.Ser70Thr)
11g.2527960G>TCA379121370KCNQ1n.216G>T
c.158G>T (p.Ser53Ile)
c.419G>T (p.Ser140Ile)
c.38G>T (p.Ser13Ile)
c.65G>T (p.Ser22Ile)
n.288G>T
c.209G>T (p.Ser70Ile)
11g.2527961C>ACA379121372KCNQ1n.217C>A
c.159C>A (p.Ser53Arg)
c.420C>A (p.Ser140Arg)
c.39C>A (p.Ser13Arg)
c.66C>A (p.Ser22Arg)
n.289C>A
c.210C>A (p.Ser70Arg)
 ClinVar
11g.2527961C=CA1948196757KCNQ1n.217C=
c.159C= (p.Ser53=)
c.420C= (p.Ser140=)
c.39C= (p.Ser13=)
c.66C= (p.Ser22=)
n.289C=
c.210C= (p.Ser70=)
11g.2527961C>GCA379121375KCNQ1n.217C>G
c.159C>G (p.Ser53Arg)
c.420C>G (p.Ser140Arg)
c.39C>G (p.Ser13Arg)
c.66C>G (p.Ser22Arg)
n.289C>G
c.210C>G (p.Ser70Arg)
11g.2527961C>TCA037102KCNQ1n.217C>T
c.159C>T (p.Ser53=)
c.420C>T (p.Ser140=)
c.39C>T (p.Ser13=)
c.66C>T (p.Ser22=)
n.289C>T
c.210C>T (p.Ser70=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2527962G>ACA007045KCNQ1n.218G>A
c.160G>A (p.Val54Met)
c.421G>A (p.Val141Met)
c.40G>A (p.Val14Met)
c.67G>A (p.Val23Met)
n.290G>A
c.211G>A (p.Val71Met)
 ClinVar dbSNP
11g.2527962G>CCA379121377KCNQ1n.218G>C
c.160G>C (p.Val54Leu)
c.421G>C (p.Val141Leu)
c.40G>C (p.Val14Leu)
c.67G>C (p.Val23Leu)
n.290G>C
c.211G>C (p.Val71Leu)
11g.2527962G=CA1948196758KCNQ1n.218G=
c.160G= (p.Val54=)
c.421G= (p.Val141=)
c.40G= (p.Val14=)
c.67G= (p.Val23=)
n.290G=
c.211G= (p.Val71=)
11g.2527962G>TCA379121378KCNQ1n.218G>T
c.160G>T (p.Val54Leu)
c.421G>T (p.Val141Leu)
c.40G>T (p.Val14Leu)
c.67G>T (p.Val23Leu)
n.290G>T
c.211G>T (p.Val71Leu)
11g.2527963T>ACA379121379KCNQ1n.219T>A
c.161T>A (p.Val54Glu)
c.422T>A (p.Val141Glu)
c.41T>A (p.Val14Glu)
c.68T>A (p.Val23Glu)
n.291T>A
c.212T>A (p.Val71Glu)
11g.2527963T>CCA379121382KCNQ1n.219T>C
c.161T>C (p.Val54Ala)
c.422T>C (p.Val141Ala)
c.41T>C (p.Val14Ala)
c.68T>C (p.Val23Ala)
n.291T>C
c.212T>C (p.Val71Ala)
11g.2527963T>GCA379121384KCNQ1n.219T>G
c.161T>G (p.Val54Gly)
c.422T>G (p.Val141Gly)
c.41T>G (p.Val14Gly)
c.68T>G (p.Val23Gly)
n.291T>G
c.212T>G (p.Val71Gly)
11g.2527964G>ACA472038233KCNQ1n.220G>A
c.162G>A (p.Val54=)
c.423G>A (p.Val141=)
c.42G>A (p.Val14=)
c.69G>A (p.Val23=)
n.292G>A
c.213G>A (p.Val71=)
11g.2527964G>CCA472038234KCNQ1n.220G>C
c.162G>C (p.Val54=)
c.423G>C (p.Val141=)
c.42G>C (p.Val14=)
c.69G>C (p.Val23=)
n.292G>C
c.213G>C (p.Val71=)
11g.2527964G>TCA472038235KCNQ1n.220G>T
c.162G>T (p.Val54=)
c.423G>T (p.Val141=)
c.42G>T (p.Val14=)
c.69G>T (p.Val23=)
n.292G>T
c.213G>T (p.Val71=)
11g.2527966_2527980delCA2612002633KCNQ1c.164_178del (p.Leu55_Glu59del)
c.425_439del (p.Leu142_Glu146del)
c.44_58del (p.Leu15_Glu19del)
c.71_85del (p.Leu24_Glu28del)
 gnomAD v4
11g.2527965C>ACA379121386KCNQ1n.221C>A
c.163C>A (p.Leu55Met)
c.424C>A (p.Leu142Met)
c.43C>A (p.Leu15Met)
c.70C>A (p.Leu24Met)
n.293C>A
c.214C>A (p.Leu72Met)
11g.2527965C>GCA379121388KCNQ1n.221C>G
c.163C>G (p.Leu55Val)
c.424C>G (p.Leu142Val)
c.43C>G (p.Leu15Val)
c.70C>G (p.Leu24Val)
n.293C>G
c.214C>G (p.Leu72Val)
11g.2527965C>TCA472038236KCNQ1n.221C>T
c.163C>T (p.Leu55=)
c.424C>T (p.Leu142=)
c.43C>T (p.Leu15=)
c.70C>T (p.Leu24=)
n.293C>T
c.214C>T (p.Leu72=)
11g.2527965_2527966delinsCTCA1948196759KCNQ1n.221_222delinsCT
c.163_164delinsCT (p.Leu55=)
c.424_425delinsCT (p.Leu142=)
c.43_44delinsCT (p.Leu15=)
c.70_71delinsCT (p.Leu24=)
n.293_294delinsCT
c.214_215delinsCT (p.Leu72=)
11g.2527966delCA007054KCNQ1n.222del
c.164del (p.Leu55ArgfsTer?)
c.425del (p.Leu142ArgfsTer?)
c.44del (p.Leu15ArgfsTer?)
c.71del (p.Leu24ArgfsTer?)
n.294del
c.215del (p.Leu72ArgfsTer?)
 ClinVar dbSNP
11g.2527966T>ACA379121391KCNQ1n.222T>A
c.164T>A (p.Leu55Gln)
c.425T>A (p.Leu142Gln)
c.44T>A (p.Leu15Gln)
c.71T>A (p.Leu24Gln)
n.294T>A
c.215T>A (p.Leu72Gln)
11g.2527966T>CCA379121401KCNQ1n.222T>C
c.164T>C (p.Leu55Pro)
c.425T>C (p.Leu142Pro)
c.44T>C (p.Leu15Pro)
c.71T>C (p.Leu24Pro)
n.294T>C
c.215T>C (p.Leu72Pro)
11g.2527966T>GCA379121404KCNQ1n.222T>G
c.164T>G (p.Leu55Arg)
c.425T>G (p.Leu142Arg)
c.44T>G (p.Leu15Arg)
c.71T>G (p.Leu24Arg)
n.294T>G
c.215T>G (p.Leu72Arg)
11g.2527967G>ACA472038237KCNQ1n.223G>A
c.165G>A (p.Leu55=)
c.426G>A (p.Leu142=)
c.45G>A (p.Leu15=)
c.72G>A (p.Leu24=)
n.295G>A
c.216G>A (p.Leu72=)
 ClinVar
11g.2527967G>CCA472038239KCNQ1n.223G>C
c.165G>C (p.Leu55=)
c.426G>C (p.Leu142=)
c.45G>C (p.Leu15=)
c.72G>C (p.Leu24=)
n.295G>C
c.216G>C (p.Leu72=)
 ClinVar gnomAD v4
11g.2527967G>TCA472038238KCNQ1n.223G>T
c.165G>T (p.Leu55=)
c.426G>T (p.Leu142=)
c.45G>T (p.Leu15=)
c.72G>T (p.Leu24=)
n.295G>T
c.216G>T (p.Leu72=)
11g.2527968T>ACA379121409KCNQ1n.224T>A
c.166T>A (p.Ser56Thr)
c.427T>A (p.Ser143Thr)
c.46T>A (p.Ser16Thr)
c.73T>A (p.Ser25Thr)
n.296T>A
c.217T>A (p.Ser73Thr)
11g.2527968T>CCA379121411KCNQ1n.224T>C
c.166T>C (p.Ser56Pro)
c.427T>C (p.Ser143Pro)
c.46T>C (p.Ser16Pro)
c.73T>C (p.Ser25Pro)
n.296T>C
c.217T>C (p.Ser73Pro)
11g.2527968T>GCA379121413KCNQ1n.224T>G
c.166T>G (p.Ser56Ala)
c.427T>G (p.Ser143Ala)
c.46T>G (p.Ser16Ala)
c.73T>G (p.Ser25Ala)
n.296T>G
c.217T>G (p.Ser73Ala)
11g.2527969C>ACA379121417KCNQ1n.225C>A
c.167C>A (p.Ser56Tyr)
c.428C>A (p.Ser143Tyr)
c.47C>A (p.Ser16Tyr)
c.74C>A (p.Ser25Tyr)
n.297C>A
c.218C>A (p.Ser73Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.2527969C=CA1948196760KCNQ1n.225C=
c.167C= (p.Ser56=)
c.428C= (p.Ser143=)
c.47C= (p.Ser16=)
c.74C= (p.Ser25=)
n.297C=
c.218C= (p.Ser73=)
11g.2527969C>GCA379121419KCNQ1n.225C>G
c.167C>G (p.Ser56Cys)
c.428C>G (p.Ser143Cys)
c.47C>G (p.Ser16Cys)
c.74C>G (p.Ser25Cys)
n.297C>G
c.218C>G (p.Ser73Cys)
11g.2527969C>TCA007061KCNQ1n.225C>T
c.167C>T (p.Ser56Phe)
c.428C>T (p.Ser143Phe)
c.47C>T (p.Ser16Phe)
c.74C>T (p.Ser25Phe)
n.297C>T
c.218C>T (p.Ser73Phe)
 ClinVar dbSNP
11g.2527970C>ACA472038240KCNQ1n.226C>A
c.168C>A (p.Ser56=)
c.429C>A (p.Ser143=)
c.48C>A (p.Ser16=)
c.75C>A (p.Ser25=)
n.298C>A
c.219C>A (p.Ser73=)
11g.2527970C>GCA472038241KCNQ1n.226C>G
c.168C>G (p.Ser56=)
c.429C>G (p.Ser143=)
c.48C>G (p.Ser16=)
c.75C>G (p.Ser25=)
n.298C>G
c.219C>G (p.Ser73=)
11g.2527970C>TCA472038242KCNQ1n.226C>T
c.168C>T (p.Ser56=)
c.429C>T (p.Ser143=)
c.48C>T (p.Ser16=)
c.75C>T (p.Ser25=)
n.298C>T
c.219C>T (p.Ser73=)
11g.2527971A=CA1948196761KCNQ1n.227A=
c.169A= (p.Thr57=)
c.430A= (p.Thr144=)
c.49A= (p.Thr17=)
c.76A= (p.Thr26=)
n.299A=
c.220A= (p.Thr74=)
11g.2527971A>CCA379121423KCNQ1n.227A>C
c.169A>C (p.Thr57Pro)
c.430A>C (p.Thr144Pro)
c.49A>C (p.Thr17Pro)
c.76A>C (p.Thr26Pro)
n.299A>C
c.220A>C (p.Thr74Pro)
11g.2527971A>GCA007072KCNQ1n.227A>G
c.169A>G (p.Thr57Ala)
c.430A>G (p.Thr144Ala)
c.49A>G (p.Thr17Ala)
c.76A>G (p.Thr26Ala)
n.299A>G
c.220A>G (p.Thr74Ala)
 ClinVar dbSNP gnomAD v4
11g.2527971A>TCA379121424KCNQ1n.227A>T
c.169A>T (p.Thr57Ser)
c.430A>T (p.Thr144Ser)
c.49A>T (p.Thr17Ser)
c.76A>T (p.Thr26Ser)
n.299A>T
c.220A>T (p.Thr74Ser)
11g.2527972C>ACA379121427KCNQ1n.228C>A
c.170C>A (p.Thr57Asn)
c.431C>A (p.Thr144Asn)
c.50C>A (p.Thr17Asn)
c.77C>A (p.Thr26Asn)
n.300C>A
c.221C>A (p.Thr74Asn)
11g.2527972C>GCA379121433KCNQ1n.228C>G
c.170C>G (p.Thr57Ser)
c.431C>G (p.Thr144Ser)
c.50C>G (p.Thr17Ser)
c.77C>G (p.Thr26Ser)
n.300C>G
c.221C>G (p.Thr74Ser)
11g.2527972C>TCA379121429KCNQ1n.228C>T
c.170C>T (p.Thr57Ile)
c.431C>T (p.Thr144Ile)
c.50C>T (p.Thr17Ile)
c.77C>T (p.Thr26Ile)
n.300C>T
c.221C>T (p.Thr74Ile)
11g.2527973delCA2695212957KCNQ1n.229del
c.171del (p.Ile58SerfsTer?)
c.432del (p.Ile145SerfsTer?)
c.51del (p.Ile18SerfsTer?)
c.78del (p.Ile27SerfsTer?)
n.301del
c.222del (p.Thr74=)
11g.2527973C>ACA472038243KCNQ1n.229C>A
c.171C>A (p.Thr57=)
c.432C>A (p.Thr144=)
c.51C>A (p.Thr17=)
c.78C>A (p.Thr26=)
n.301C>A
c.222C>A (p.Thr74=)
11g.2527973C>GCA472038244KCNQ1n.229C>G
c.171C>G (p.Thr57=)
c.432C>G (p.Thr144=)
c.51C>G (p.Thr17=)
c.78C>G (p.Thr26=)
n.301C>G
c.222C>G (p.Thr74=)
11g.2527973C>TCA472038245KCNQ1n.229C>T
c.171C>T (p.Thr57=)
c.432C>T (p.Thr144=)
c.51C>T (p.Thr17=)
c.78C>T (p.Thr26=)
n.301C>T
c.222C>T (p.Thr74=)
11g.2527974A=CA1948196762KCNQ1c.172A= (p.Ile58=)
c.433A= (p.Ile145=)
c.52A= (p.Ile18=)
c.79A= (p.Ile27=)
n.302A=
11g.2527974A>CCA379121448KCNQ1c.172A>C (p.Ile58Leu)
c.433A>C (p.Ile145Leu)
c.52A>C (p.Ile18Leu)
c.79A>C (p.Ile27Leu)
n.302A>C
 dbSNP
11g.2527974A>GCA379121450KCNQ1c.172A>G (p.Ile58Val)
c.433A>G (p.Ile145Val)
c.52A>G (p.Ile18Val)
c.79A>G (p.Ile27Val)
n.302A>G
11g.2527974A>TCA379121451KCNQ1c.172A>T (p.Ile58Phe)
c.433A>T (p.Ile145Phe)
c.52A>T (p.Ile18Phe)
c.79A>T (p.Ile27Phe)
n.302A>T
11g.2527975T>ACA379121453KCNQ1c.173T>A (p.Ile58Asn)
c.434T>A (p.Ile145Asn)
c.53T>A (p.Ile18Asn)
c.80T>A (p.Ile27Asn)
n.303T>A
11g.2527975T>CCA379121456KCNQ1c.173T>C (p.Ile58Thr)
c.434T>C (p.Ile145Thr)
c.53T>C (p.Ile18Thr)
c.80T>C (p.Ile27Thr)
n.303T>C
 gnomAD v4
11g.2527975T>GCA379121459KCNQ1c.173T>G (p.Ile58Ser)
c.434T>G (p.Ile145Ser)
c.53T>G (p.Ile18Ser)
c.80T>G (p.Ile27Ser)
n.303T>G
11g.2527976C>ACA472038246KCNQ1c.174C>A (p.Ile58=)
c.435C>A (p.Ile145=)
c.54C>A (p.Ile18=)
c.81C>A (p.Ile27=)
n.304C>A
 gnomAD v4
11g.2527976C=CA1948196763KCNQ1c.174C= (p.Ile58=)
c.435C= (p.Ile145=)
c.54C= (p.Ile18=)
c.81C= (p.Ile27=)
n.304C=
11g.2527976C>GCA379121463KCNQ1c.174C>G (p.Ile58Met)
c.435C>G (p.Ile145Met)
c.54C>G (p.Ile18Met)
c.81C>G (p.Ile27Met)
n.304C>G
11g.2527976C>TCA007082KCNQ1c.174C>T (p.Ile58=)
c.435C>T (p.Ile145=)
c.54C>T (p.Ile18=)
c.81C>T (p.Ile27=)
n.304C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2527977G>ACA007090KCNQ1c.175G>A (p.Glu59Lys)
c.436G>A (p.Glu146Lys)
c.55G>A (p.Glu19Lys)
c.82G>A (p.Glu28Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.2527977G>CCA379121473KCNQ1c.175G>C (p.Glu59Gln)
c.436G>C (p.Glu146Gln)
c.55G>C (p.Glu19Gln)
c.82G>C (p.Glu28Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.2527977G=CA1948196764KCNQ1c.175G= (p.Glu59=)
c.436G= (p.Glu146=)
c.55G= (p.Glu19=)
c.82G= (p.Glu28=)
11g.2527977G>TCA379121484KCNQ1c.175G>T (p.Glu59Ter)
c.436G>T (p.Glu146Ter)
c.55G>T (p.Glu19Ter)
c.82G>T (p.Glu28Ter)
11g.2527978A=CA1948196765KCNQ1c.176A= (p.Glu59=)
c.437A= (p.Glu146=)
c.56A= (p.Glu19=)
c.83A= (p.Glu28=)
11g.2527978A>CCA379121891KCNQ1c.176A>C (p.Glu59Ala)
c.437A>C (p.Glu146Ala)
c.56A>C (p.Glu19Ala)
c.83A>C (p.Glu28Ala)
11g.2527978A>GCA16619306KCNQ1c.176A>G (p.Glu59Gly)
c.437A>G (p.Glu146Gly)
c.56A>G (p.Glu19Gly)
c.83A>G (p.Glu28Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2527978A>TCA379121893KCNQ1c.176A>T (p.Glu59Val)
c.437A>T (p.Glu146Val)
c.56A>T (p.Glu19Val)
c.83A>T (p.Glu28Val)
11g.2527979G>ACA472038254KCNQ1c.177G>A (p.Glu59=)
c.438G>A (p.Glu146=)
c.57G>A (p.Glu19=)
c.84G>A (p.Glu28=)
 gnomAD v4
11g.2527979G>CCA379121894KCNQ1c.177G>C (p.Glu59Asp)
c.438G>C (p.Glu146Asp)
c.57G>C (p.Glu19Asp)
c.84G>C (p.Glu28Asp)
11g.2527979G>TCA379121895KCNQ1c.177G>T (p.Glu59Asp)
c.438G>T (p.Glu146Asp)
c.57G>T (p.Glu19Asp)
c.84G>T (p.Glu28Asp)
11g.2527980C>ACA379121896KCNQ1c.178C>A (p.Gln60Lys)
c.439C>A (p.Gln147Lys)
c.58C>A (p.Gln20Lys)
c.85C>A (p.Gln29Lys)
11g.2527980C>GCA379121898KCNQ1c.178C>G (p.Gln60Glu)
c.439C>G (p.Gln147Glu)
c.58C>G (p.Gln20Glu)
c.85C>G (p.Gln29Glu)
11g.2527980C>TCA379121901KCNQ1c.178C>T (p.Gln60Ter)
c.439C>T (p.Gln147Ter)
c.58C>T (p.Gln20Ter)
c.85C>T (p.Gln29Ter)
11g.2527981A=CA1948196766KCNQ1c.179A= (p.Gln60=)
c.440A= (p.Gln147=)
c.59A= (p.Gln20=)
c.86A= (p.Gln29=)
11g.2527981A>CCA379121910KCNQ1c.179A>C (p.Gln60Pro)
c.440A>C (p.Gln147Pro)
c.59A>C (p.Gln20Pro)
c.86A>C (p.Gln29Pro)
11g.2527981A>GCA007099KCNQ1c.179A>G (p.Gln60Arg)
c.440A>G (p.Gln147Arg)
c.59A>G (p.Gln20Arg)
c.86A>G (p.Gln29Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2527981A>TCA379121912KCNQ1c.179A>T (p.Gln60Leu)
c.440A>T (p.Gln147Leu)
c.59A>T (p.Gln20Leu)
c.86A>T (p.Gln29Leu)
 ClinVar dbSNP
11g.2527982G>ACA472038255KCNQ1c.180G>A (p.Gln60=)
c.441G>A (p.Gln147=)
c.60G>A (p.Gln20=)
c.87G>A (p.Gln29=)
11g.2527982G>CCA379121914KCNQ1c.180G>C (p.Gln60His)
c.441G>C (p.Gln147His)
c.60G>C (p.Gln20His)
c.87G>C (p.Gln29His)
11g.2527982G>TCA379121916KCNQ1c.180G>T (p.Gln60His)
c.441G>T (p.Gln147His)
c.60G>T (p.Gln20His)
c.87G>T (p.Gln29His)
11g.2527983T>ACA379121917KCNQ1c.181T>A (p.Tyr61Asn)
c.442T>A (p.Tyr148Asn)
c.61T>A (p.Tyr21Asn)
c.88T>A (p.Tyr30Asn)
11g.2527983T>CCA379121918KCNQ1c.181T>C (p.Tyr61His)
c.442T>C (p.Tyr148His)
c.61T>C (p.Tyr21His)
c.88T>C (p.Tyr30His)
11g.2527983T>GCA379121921KCNQ1c.181T>G (p.Tyr61Asp)
c.442T>G (p.Tyr148Asp)
c.61T>G (p.Tyr21Asp)
c.88T>G (p.Tyr30Asp)
11g.2527983_2527984delinsTACA1948196767KCNQ1c.181_182delinsTA (p.Tyr61=)
c.442_443delinsTA (p.Tyr148=)
c.61_62delinsTA (p.Tyr21=)
c.88_89delinsTA (p.Tyr30=)
11g.2527984delCA10575750KCNQ1c.182del (p.Tyr61LeufsTer?)
c.443del (p.Tyr148LeufsTer?)
c.62del (p.Tyr21LeufsTer?)
c.89del (p.Tyr30LeufsTer?)
 ClinVar dbSNP
11g.2527984A>CCA379121927KCNQ1c.182A>C (p.Tyr61Ser)
c.443A>C (p.Tyr148Ser)
c.62A>C (p.Tyr21Ser)
c.89A>C (p.Tyr30Ser)
11g.2527984A>GCA379121930KCNQ1c.182A>G (p.Tyr61Cys)
c.443A>G (p.Tyr148Cys)
c.62A>G (p.Tyr21Cys)
c.89A>G (p.Tyr30Cys)
11g.2527984A>TCA379121925KCNQ1c.182A>T (p.Tyr61Phe)
c.443A>T (p.Tyr148Phe)
c.62A>T (p.Tyr21Phe)
c.89A>T (p.Tyr30Phe)
11g.2527984dupCA2574728111KCNQ1c.182dup (p.Tyr61Ter)
c.443dup (p.Tyr148Ter)
c.62dup (p.Tyr21Ter)
c.89dup (p.Tyr30Ter)
11g.2527985T>ACA379121934KCNQ1c.183T>A (p.Tyr61Ter)
c.444T>A (p.Tyr148Ter)
c.63T>A (p.Tyr21Ter)
c.90T>A (p.Tyr30Ter)
11g.2527985T>CCA472038256KCNQ1c.183T>C (p.Tyr61=)
c.444T>C (p.Tyr148=)
c.63T>C (p.Tyr21=)
c.90T>C (p.Tyr30=)
 gnomAD v4
11g.2527985T>GCA379121933KCNQ1c.183T>G (p.Tyr61Ter)
c.444T>G (p.Tyr148Ter)
c.63T>G (p.Tyr21Ter)
c.90T>G (p.Tyr30Ter)
11g.2527986G>ACA379121937KCNQ1c.184G>A (p.Ala62Thr)
c.445G>A (p.Ala149Thr)
c.64G>A (p.Ala22Thr)
c.91G>A (p.Ala31Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2527986G>CCA379121936KCNQ1c.184G>C (p.Ala62Pro)
c.445G>C (p.Ala149Pro)
c.64G>C (p.Ala22Pro)
c.91G>C (p.Ala31Pro)
11g.2527986G=CA1948196768KCNQ1c.184G= (p.Ala62=)
c.445G= (p.Ala149=)
c.64G= (p.Ala22=)
c.91G= (p.Ala31=)
11g.2527986G>TCA379121939KCNQ1c.184G>T (p.Ala62Ser)
c.445G>T (p.Ala149Ser)
c.64G>T (p.Ala22Ser)
c.91G>T (p.Ala31Ser)
11g.2527987C>ACA379121941KCNQ1c.185C>A (p.Ala62Asp)
c.446C>A (p.Ala149Asp)
c.65C>A (p.Ala22Asp)
c.92C>A (p.Ala31Asp)
11g.2527987C=CA1948196769KCNQ1c.185C= (p.Ala62=)
c.446C= (p.Ala149=)
c.65C= (p.Ala22=)
c.92C= (p.Ala31=)
11g.2527987C>GCA379121959KCNQ1c.185C>G (p.Ala62Gly)
c.446C>G (p.Ala149Gly)
c.65C>G (p.Ala22Gly)
c.92C>G (p.Ala31Gly)
11g.2527987C>TCA216319515KCNQ1c.185C>T (p.Ala62Val)
c.446C>T (p.Ala149Val)
c.65C>T (p.Ala22Val)
c.92C>T (p.Ala31Val)
 dbSNP gnomAD v4
11g.2527988C>ACA472038257KCNQ1c.186C>A (p.Ala62=)
c.447C>A (p.Ala149=)
c.66C>A (p.Ala22=)
c.93C>A (p.Ala31=)
11g.2527988C=CA1948196770KCNQ1c.186C= (p.Ala62=)
c.447C= (p.Ala149=)
c.66C= (p.Ala22=)
c.93C= (p.Ala31=)
11g.2527988C>GCA472038258KCNQ1c.186C>G (p.Ala62=)
c.447C>G (p.Ala149=)
c.66C>G (p.Ala22=)
c.93C>G (p.Ala31=)
11g.2527988C>TCA007107KCNQ1c.186C>T (p.Ala62=)
c.447C>T (p.Ala149=)
c.66C>T (p.Ala22=)
c.93C>T (p.Ala31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2527989G>ACA007116KCNQ1c.187G>A (p.Ala63Thr)
c.448G>A (p.Ala150Thr)
c.67G>A (p.Ala23Thr)
c.94G>A (p.Ala32Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2527989G>CCA379121962KCNQ1c.187G>C (p.Ala63Pro)
c.448G>C (p.Ala150Pro)
c.67G>C (p.Ala23Pro)
c.94G>C (p.Ala32Pro)
11g.2527989G=CA1948196771KCNQ1c.187G= (p.Ala63=)
c.448G= (p.Ala150=)
c.67G= (p.Ala23=)
c.94G= (p.Ala32=)
11g.2527989G>TCA379121964KCNQ1c.187G>T (p.Ala63Ser)
c.448G>T (p.Ala150Ser)
c.67G>T (p.Ala23Ser)
c.94G>T (p.Ala32Ser)
 gnomAD v4
11g.2527990C>ACA379121967KCNQ1c.188C>A (p.Ala63Asp)
c.449C>A (p.Ala150Asp)
c.68C>A (p.Ala23Asp)
c.95C>A (p.Ala32Asp)
11g.2527990C=CA1948196772KCNQ1c.188C= (p.Ala63=)
c.449C= (p.Ala150=)
c.68C= (p.Ala23=)
c.95C= (p.Ala32=)
11g.2527990C>GCA007123KCNQ1c.188C>G (p.Ala63Gly)
c.449C>G (p.Ala150Gly)
c.68C>G (p.Ala23Gly)
c.95C>G (p.Ala32Gly)
 ClinVar dbSNP
11g.2527990C>TCA379121970KCNQ1c.188C>T (p.Ala63Val)
c.449C>T (p.Ala150Val)
c.68C>T (p.Ala23Val)
c.95C>T (p.Ala32Val)
 dbSNP gnomAD v4
11g.2527991C>ACA472038259KCNQ1c.189C>A (p.Ala63=)
c.450C>A (p.Ala150=)
c.69C>A (p.Ala23=)
c.96C>A (p.Ala32=)
 gnomAD v4
11g.2527991C>GCA472038260KCNQ1c.189C>G (p.Ala63=)
c.450C>G (p.Ala150=)
c.69C>G (p.Ala23=)
c.96C>G (p.Ala32=)
11g.2527991C>TCA472038261KCNQ1c.189C>T (p.Ala63=)
c.450C>T (p.Ala150=)
c.69C>T (p.Ala23=)
c.96C>T (p.Ala32=)
11g.2527991_2527993delinsCCTCA1948196773KCNQ1c.189_191delinsCCT (p.Ala63=)
c.450_452delinsCCT (p.Ala150=)
c.69_71delinsCCT (p.Ala23=)
c.96_98delinsCCT (p.Ala32=)
11g.2527992C>ACA379121973KCNQ1c.190C>A (p.Leu64Met)
c.451C>A (p.Leu151Met)
c.70C>A (p.Leu24Met)
c.97C>A (p.Leu33Met)
11g.2527992C>GCA379121976KCNQ1c.190C>G (p.Leu64Val)
c.451C>G (p.Leu151Val)
c.70C>G (p.Leu24Val)
c.97C>G (p.Leu33Val)
11g.2527992C>TCA472038262KCNQ1c.190C>T (p.Leu64=)
c.451C>T (p.Leu151=)
c.70C>T (p.Leu24=)
c.97C>T (p.Leu33=)
11g.2527992_2527993delCA007133KCNQ1c.190_191del (p.Leu64GlyfsTer?)
c.451_452del (p.Leu151GlyfsTer?)
c.70_71del (p.Leu24GlyfsTer?)
c.97_98del (p.Leu33GlyfsTer?)
 ClinVar dbSNP
11g.2527993T>ACA379121979KCNQ1c.191T>A (p.Leu64Gln)
c.452T>A (p.Leu151Gln)
c.71T>A (p.Leu24Gln)
c.98T>A (p.Leu33Gln)
11g.2527993T>CCA379121982KCNQ1c.191T>C (p.Leu64Pro)
c.452T>C (p.Leu151Pro)
c.71T>C (p.Leu24Pro)
c.98T>C (p.Leu33Pro)
 COSMIC
11g.2527993T>GCA379121986KCNQ1c.191T>G (p.Leu64Arg)
c.452T>G (p.Leu151Arg)
c.71T>G (p.Leu24Arg)
c.98T>G (p.Leu33Arg)
11g.2527994G>ACA472038263KCNQ1c.192G>A (p.Leu64=)
c.453G>A (p.Leu151=)
c.72G>A (p.Leu24=)
c.99G>A (p.Leu33=)
11g.2527994G>CCA472038264KCNQ1c.192G>C (p.Leu64=)
c.453G>C (p.Leu151=)
c.72G>C (p.Leu24=)
c.99G>C (p.Leu33=)
 dbSNP gnomAD v3 gnomAD v4
11g.2527994G=CA1948196774KCNQ1c.192G= (p.Leu64=)
c.453G= (p.Leu151=)
c.72G= (p.Leu24=)
c.99G= (p.Leu33=)
11g.2527994G>TCA472038265KCNQ1c.192G>T (p.Leu64=)
c.453G>T (p.Leu151=)
c.72G>T (p.Leu24=)
c.99G>T (p.Leu33=)
11g.2527995G>ACA379122001KCNQ1c.193G>A (p.Ala65Thr)
c.454G>A (p.Ala152Thr)
c.73G>A (p.Ala25Thr)
c.100G>A (p.Ala34Thr)
11g.2527995G>CCA379121999KCNQ1c.193G>C (p.Ala65Pro)
c.454G>C (p.Ala152Pro)
c.73G>C (p.Ala25Pro)
c.100G>C (p.Ala34Pro)
11g.2527995G>TCA379121989KCNQ1c.193G>T (p.Ala65Ser)
c.454G>T (p.Ala152Ser)
c.73G>T (p.Ala25Ser)
c.100G>T (p.Ala34Ser)
11g.2527996C>ACA379122005KCNQ1c.194C>A (p.Ala65Asp)
c.455C>A (p.Ala152Asp)
c.74C>A (p.Ala25Asp)
c.101C>A (p.Ala34Asp)
11g.2527996C>GCA379122013KCNQ1c.194C>G (p.Ala65Gly)
c.455C>G (p.Ala152Gly)
c.74C>G (p.Ala25Gly)
c.101C>G (p.Ala34Gly)
11g.2527996C>TCA379122018KCNQ1c.194C>T (p.Ala65Val)
c.455C>T (p.Ala152Val)
c.74C>T (p.Ala25Val)
c.101C>T (p.Ala34Val)
11g.2527997C>ACA472038266KCNQ1c.195C>A (p.Ala65=)
c.456C>A (p.Ala152=)
c.75C>A (p.Ala25=)
c.102C>A (p.Ala34=)
11g.2527997C>GCA472038268KCNQ1c.195C>G (p.Ala65=)
c.456C>G (p.Ala152=)
c.75C>G (p.Ala25=)
c.102C>G (p.Ala34=)
11g.2527997C>TCA472038267KCNQ1c.195C>T (p.Ala65=)
c.456C>T (p.Ala152=)
c.75C>T (p.Ala25=)
c.102C>T (p.Ala34=)
11g.2527998A>CCA379122019KCNQ1c.196A>C (p.Thr66Pro)
c.457A>C (p.Thr153Pro)
c.76A>C (p.Thr26Pro)
c.103A>C (p.Thr35Pro)
11g.2527998A>GCA379122020KCNQ1c.196A>G (p.Thr66Ala)
c.457A>G (p.Thr153Ala)
c.76A>G (p.Thr26Ala)
c.103A>G (p.Thr35Ala)
11g.2527998A>TCA379122021KCNQ1c.196A>T (p.Thr66Ser)
c.457A>T (p.Thr153Ser)
c.76A>T (p.Thr26Ser)
c.103A>T (p.Thr35Ser)
11g.2527999C>ACA379122024KCNQ1c.197C>A (p.Thr66Lys)
c.458C>A (p.Thr153Lys)
c.77C>A (p.Thr26Lys)
c.104C>A (p.Thr35Lys)
 gnomAD v4
11g.2527999C=CA1948196775KCNQ1c.197C= (p.Thr66=)
c.458C= (p.Thr153=)
c.77C= (p.Thr26=)
c.104C= (p.Thr35=)
11g.2527999C>GCA379122028KCNQ1c.197C>G (p.Thr66Arg)
c.458C>G (p.Thr153Arg)
c.77C>G (p.Thr26Arg)
c.104C>G (p.Thr35Arg)
11g.2527999C>TCA007144KCNQ1c.197C>T (p.Thr66Met)
c.458C>T (p.Thr153Met)
c.77C>T (p.Thr26Met)
c.104C>T (p.Thr35Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2528000G>ACA007153KCNQ1c.198G>A (p.Thr66=)
c.459G>A (p.Thr153=)
c.78G>A (p.Thr26=)
c.105G>A (p.Thr35=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2528000G>CCA472038269KCNQ1c.198G>C (p.Thr66=)
c.459G>C (p.Thr153=)
c.78G>C (p.Thr26=)
c.105G>C (p.Thr35=)
11g.2528000G=CA1948196776KCNQ1c.198G= (p.Thr66=)
c.459G= (p.Thr153=)
c.78G= (p.Thr26=)
c.105G= (p.Thr35=)
11g.2528000G>TCA472038270KCNQ1c.198G>T (p.Thr66=)
c.459G>T (p.Thr153=)
c.78G>T (p.Thr26=)
c.105G>T (p.Thr35=)
11g.2528001G>ACA379122036KCNQ1c.199G>A (p.Gly67Arg)
c.460G>A (p.Gly154Arg)
c.79G>A (p.Gly27Arg)
c.106G>A (p.Gly36Arg)
 COSMIC
11g.2528001G>CCA379122037KCNQ1c.199G>C (p.Gly67Arg)
c.460G>C (p.Gly154Arg)
c.79G>C (p.Gly27Arg)
c.106G>C (p.Gly36Arg)
 gnomAD v4
11g.2528001G>TCA379122039KCNQ1c.199G>T (p.Gly67Trp)
c.460G>T (p.Gly154Trp)
c.79G>T (p.Gly27Trp)
c.106G>T (p.Gly36Trp)
11g.2528002G>ACA216319548KCNQ1c.200G>A (p.Gly67Glu)
c.461G>A (p.Gly154Glu)
c.80G>A (p.Gly27Glu)
c.107G>A (p.Gly36Glu)
 dbSNP
11g.2528002G>CCA379122053KCNQ1c.200G>C (p.Gly67Ala)
c.461G>C (p.Gly154Ala)
c.80G>C (p.Gly27Ala)
c.107G>C (p.Gly36Ala)
11g.2528002G=CA1948196777KCNQ1c.200G= (p.Gly67=)
c.461G= (p.Gly154=)
c.80G= (p.Gly27=)
c.107G= (p.Gly36=)
11g.2528002G>TCA379122043KCNQ1c.200G>T (p.Gly67Val)
c.461G>T (p.Gly154Val)
c.80G>T (p.Gly27Val)
c.107G>T (p.Gly36Val)
 gnomAD v4
11g.2528003G>ACA037309KCNQ1c.201G>A (p.Gly67=)
c.462G>A (p.Gly154=)
c.81G>A (p.Gly27=)
c.108G>A (p.Gly36=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2528003G>CCA472038271KCNQ1c.201G>C (p.Gly67=)
c.462G>C (p.Gly154=)
c.81G>C (p.Gly27=)
c.108G>C (p.Gly36=)
11g.2528003G=CA1948196778KCNQ1c.201G= (p.Gly67=)
c.462G= (p.Gly154=)
c.81G= (p.Gly27=)
c.108G= (p.Gly36=)
11g.2528003G>TCA472038272KCNQ1c.201G>T (p.Gly67=)
c.462G>T (p.Gly154=)
c.81G>T (p.Gly27=)
c.108G>T (p.Gly36=)
 gnomAD v4
11g.2528004A=CA1948196780KCNQ1c.202A= (p.Thr68=)
c.463A= (p.Thr155=)
c.82A= (p.Thr28=)
c.109A= (p.Thr37=)
11g.2528004A>CCA379122063KCNQ1c.202A>C (p.Thr68Pro)
c.463A>C (p.Thr155Pro)
c.82A>C (p.Thr28Pro)
c.109A>C (p.Thr37Pro)
11g.2528004A>GCA379122065KCNQ1c.202A>G (p.Thr68Ala)
c.463A>G (p.Thr155Ala)
c.82A>G (p.Thr28Ala)
c.109A>G (p.Thr37Ala)
 dbSNP
11g.2528004A>TCA379122067KCNQ1c.202A>T (p.Thr68Ser)
c.463A>T (p.Thr155Ser)
c.82A>T (p.Thr28Ser)
c.109A>T (p.Thr37Ser)
11g.2528004_2528006delinsACTCA1948196779KCNQ1c.202_204delinsACT (p.Thr68=)
c.463_465delinsACT (p.Thr155=)
c.82_84delinsACT (p.Thr28=)
c.109_111delinsACT (p.Thr37=)
11g.2528005C>ACA379122070KCNQ1c.203C>A (p.Thr68Asn)
c.464C>A (p.Thr155Asn)
c.83C>A (p.Thr28Asn)
c.110C>A (p.Thr37Asn)
11g.2528005C=CA1948196781KCNQ1c.203C= (p.Thr68=)
c.464C= (p.Thr155=)
c.83C= (p.Thr28=)
c.110C= (p.Thr37=)
11g.2528005C>GCA379122074KCNQ1c.203C>G (p.Thr68Ser)
c.464C>G (p.Thr155Ser)
c.83C>G (p.Thr28Ser)
c.110C>G (p.Thr37Ser)
11g.2528005C>TCA379122076KCNQ1c.203C>T (p.Thr68Ile)
c.464C>T (p.Thr155Ile)
c.83C>T (p.Thr28Ile)
c.110C>T (p.Thr37Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.2528009_2528010delCA16619307KCNQ1c.207_208del (p.Phe70LeufsTer?)
c.468_469del (p.Phe157LeufsTer?)
c.87_88del (p.Phe30LeufsTer?)
c.114_115del (p.Phe39LeufsTer?)
 ClinVar dbSNP
11g.2528006T>ACA472038273KCNQ1c.204T>A (p.Thr68=)
c.465T>A (p.Thr155=)
c.84T>A (p.Thr28=)
c.111T>A (p.Thr37=)
 ClinVar dbSNP gnomAD v4
11g.2528006T>CCA216319589KCNQ1c.204T>C (p.Thr68=)
c.465T>C (p.Thr155=)
c.84T>C (p.Thr28=)
c.111T>C (p.Thr37=)
 dbSNP
11g.2528006T>GCA037341KCNQ1c.204T>G (p.Thr68=)
c.465T>G (p.Thr155=)
c.84T>G (p.Thr28=)
c.111T>G (p.Thr37=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2528006T=CA1948196782KCNQ1c.204T= (p.Thr68=)
c.465T= (p.Thr155=)
c.84T= (p.Thr28=)
c.111T= (p.Thr37=)
11g.2528007C>ACA379122080KCNQ1c.205C>A (p.Leu69Ile)
c.466C>A (p.Leu156Ile)
c.85C>A (p.Leu29Ile)
c.112C>A (p.Leu38Ile)
11g.2528007C>GCA379122081KCNQ1c.205C>G (p.Leu69Val)
c.466C>G (p.Leu156Val)
c.85C>G (p.Leu29Val)
c.112C>G (p.Leu38Val)
 COSMIC COSMIC
11g.2528007C>TCA379122082KCNQ1c.205C>T (p.Leu69Phe)
c.466C>T (p.Leu156Phe)
c.85C>T (p.Leu29Phe)
c.112C>T (p.Leu38Phe)
 COSMIC COSMIC
11g.2528008T>ACA379122092KCNQ1c.206T>A (p.Leu69His)
c.467T>A (p.Leu156His)
c.86T>A (p.Leu29His)
c.113T>A (p.Leu38His)
11g.2528008T>CCA379122086KCNQ1c.206T>C (p.Leu69Pro)
c.467T>C (p.Leu156Pro)
c.86T>C (p.Leu29Pro)
c.113T>C (p.Leu38Pro)
 ClinVar dbSNP
11g.2528008T>GCA379122083KCNQ1c.206T>G (p.Leu69Arg)
c.467T>G (p.Leu156Arg)
c.86T>G (p.Leu29Arg)
c.113T>G (p.Leu38Arg)
 ClinVar
11g.2528008T=CA1948196783KCNQ1c.206T= (p.Leu69=)
c.467T= (p.Leu156=)
c.86T= (p.Leu29=)
c.113T= (p.Leu38=)
11g.2528009C>ACA472038274KCNQ1c.207C>A (p.Leu69=)
c.468C>A (p.Leu156=)
c.87C>A (p.Leu29=)
c.114C>A (p.Leu38=)
11g.2528009C=CA1948196784KCNQ1c.207C= (p.Leu69=)
c.468C= (p.Leu156=)
c.87C= (p.Leu29=)
c.114C= (p.Leu38=)
11g.2528009C>GCA037366KCNQ1c.207C>G (p.Leu69=)
c.468C>G (p.Leu156=)
c.87C>G (p.Leu29=)
c.114C>G (p.Leu38=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2528009C>TCA472038275KCNQ1c.207C>T (p.Leu69=)
c.468C>T (p.Leu156=)
c.87C>T (p.Leu29=)
c.114C>T (p.Leu38=)
 ClinVar dbSNP gnomAD v4
11g.2528010T>ACA379122100KCNQ1c.208T>A (p.Phe70Ile)
c.469T>A (p.Phe157Ile)
c.88T>A (p.Phe30Ile)
c.115T>A (p.Phe39Ile)
11g.2528010T>CCA379122103KCNQ1c.208T>C (p.Phe70Leu)
c.469T>C (p.Phe157Leu)
c.88T>C (p.Phe30Leu)
c.115T>C (p.Phe39Leu)
11g.2528010T>GCA379122108KCNQ1c.208T>G (p.Phe70Val)
c.469T>G (p.Phe157Val)
c.88T>G (p.Phe30Val)
c.115T>G (p.Phe39Val)
11g.2528011T>ACA379122113KCNQ1c.209T>A (p.Phe70Tyr)
c.470T>A (p.Phe157Tyr)
c.89T>A (p.Phe30Tyr)
c.116T>A (p.Phe39Tyr)
11g.2528011T>CCA379122119KCNQ1c.209T>C (p.Phe70Ser)
c.470T>C (p.Phe157Ser)
c.89T>C (p.Phe30Ser)
c.116T>C (p.Phe39Ser)
11g.2528011T>GCA007159KCNQ1c.209T>G (p.Phe70Cys)
c.470T>G (p.Phe157Cys)
c.89T>G (p.Phe30Cys)
c.116T>G (p.Phe39Cys)
 ClinVar dbSNP
11g.2528011T=CA1948196785KCNQ1c.209T= (p.Phe70=)
c.470T= (p.Phe157=)
c.89T= (p.Phe30=)
c.116T= (p.Phe39=)
11g.2528012C>ACA379122133KCNQ1c.210C>A (p.Phe70Leu)
c.471C>A (p.Phe157Leu)
c.90C>A (p.Phe30Leu)
c.117C>A (p.Phe39Leu)
11g.2528012C>GCA379122160KCNQ1c.210C>G (p.Phe70Leu)
c.471C>G (p.Phe157Leu)
c.90C>G (p.Phe30Leu)
c.117C>G (p.Phe39Leu)
11g.2528012C>TCA472038276KCNQ1c.210C>T (p.Phe70=)
c.471C>T (p.Phe157=)
c.90C>T (p.Phe30=)
c.117C>T (p.Phe39=)
 COSMIC COSMIC
11g.2528013T>ACA379122164KCNQ1c.211T>A (p.Trp71Arg)
c.472T>A (p.Trp158Arg)
c.91T>A (p.Trp31Arg)
c.118T>A (p.Trp40Arg)
11g.2528013T>CCA379122166KCNQ1c.211T>C (p.Trp71Arg)
c.472T>C (p.Trp158Arg)
c.91T>C (p.Trp31Arg)
c.118T>C (p.Trp40Arg)
 gnomAD v4
11g.2528013T>GCA379122172KCNQ1c.211T>G (p.Trp71Gly)
c.472T>G (p.Trp158Gly)
c.91T>G (p.Trp31Gly)
c.118T>G (p.Trp40Gly)
 gnomAD v4
11g.2528013T=CA1948196786KCNQ1c.211T= (p.Trp71=)
c.472T= (p.Trp158=)
c.91T= (p.Trp31=)
c.118T= (p.Trp40=)
11g.2528014G>ACA379122209KCNQ1c.212G>A (p.Trp71Ter)
c.473G>A (p.Trp158Ter)
c.92G>A (p.Trp31Ter)
c.119G>A (p.Trp40Ter)
11g.2528014G>CCA379122183KCNQ1c.212G>C (p.Trp71Ser)
c.473G>C (p.Trp158Ser)
c.92G>C (p.Trp31Ser)
c.119G>C (p.Trp40Ser)
11g.2528014G>TCA379122175KCNQ1c.212G>T (p.Trp71Leu)
c.473G>T (p.Trp158Leu)
c.92G>T (p.Trp31Leu)
c.119G>T (p.Trp40Leu)
11g.2528015dupCA216319629KCNQ1c.213dup (p.Met72AspfsTer?)
c.474dup (p.Met159AspfsTer?)
c.93dup (p.Met32AspfsTer?)
c.120dup (p.Met41AspfsTer?)
 dbSNP
11g.2528015G>ACA379122222KCNQ1c.213G>A (p.Trp71Ter)
c.474G>A (p.Trp158Ter)
c.93G>A (p.Trp31Ter)
c.120G>A (p.Trp40Ter)
11g.2528015G>CCA379122213KCNQ1c.213G>C (p.Trp71Cys)
c.474G>C (p.Trp158Cys)
c.93G>C (p.Trp31Cys)
c.120G>C (p.Trp40Cys)
 ClinVar gnomAD v4
11g.2528015G>TCA379122220KCNQ1c.213G>T (p.Trp71Cys)
c.474G>T (p.Trp158Cys)
c.93G>T (p.Trp31Cys)
c.120G>T (p.Trp40Cys)
11g.2528016A=CA1948196787KCNQ1c.214A= (p.Met72=)
c.475A= (p.Met159=)
c.94A= (p.Met32=)
c.121A= (p.Met41=)
11g.2528016A>CCA379122230KCNQ1c.214A>C (p.Met72Leu)
c.475A>C (p.Met159Leu)
c.94A>C (p.Met32Leu)
c.121A>C (p.Met41Leu)
11g.2528016A>GCA379122237KCNQ1c.214A>G (p.Met72Val)
c.475A>G (p.Met159Val)
c.94A>G (p.Met32Val)
c.121A>G (p.Met41Val)
11g.2528016A>TCA379122240KCNQ1c.214A>T (p.Met72Leu)
c.475A>T (p.Met159Leu)
c.94A>T (p.Met32Leu)
c.121A>T (p.Met41Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2528017T>ACA379122243KCNQ1c.215T>A (p.Met72Lys)
c.476T>A (p.Met159Lys)
c.95T>A (p.Met32Lys)
c.122T>A (p.Met41Lys)
11g.2528017T>CCA379122242KCNQ1c.215T>C (p.Met72Thr)
c.476T>C (p.Met159Thr)
c.95T>C (p.Met32Thr)
c.122T>C (p.Met41Thr)
11g.2528017T>GCA379122241KCNQ1c.215T>G (p.Met72Arg)
c.476T>G (p.Met159Arg)
c.95T>G (p.Met32Arg)
c.122T>G (p.Met41Arg)
11g.2528018G>ACA379122244KCNQ1c.216G>A (p.Met72Ile)
c.477G>A (p.Met159Ile)
c.96G>A (p.Met32Ile)
c.123G>A (p.Met41Ile)
11g.2528018G>CCA379122245KCNQ1c.216G>C (p.Met72Ile)
c.477G>C (p.Met159Ile)
c.96G>C (p.Met32Ile)
c.123G>C (p.Met41Ile)
11g.2528018G>TCA379122246KCNQ1c.216G>T (p.Met72Ile)
c.477G>T (p.Met159Ile)
c.96G>T (p.Met32Ile)
c.123G>T (p.Met41Ile)
11g.2528019G>ACA007168KCNQ1c.216+1G>A (n.216+1G>A)
c.477+1G>A (n.477+1G>A)
c.96+1G>A (n.96+1G>A)
c.123+1G>A (n.123+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2528019G>CCA379122251KCNQ1c.216+1G>C (n.216+1G>C)
c.477+1G>C (n.477+1G>C)
c.96+1G>C (n.96+1G>C)
c.123+1G>C (n.123+1G>C)
 ClinVar
11g.2528019G=CA1948196792KCNQ1c.216+1G= (n.216+1G=)
c.477+1G= (n.477+1G=)
c.96+1G= (n.96+1G=)
c.123+1G= (n.123+1G=)
11g.2528019G>TCA379122254KCNQ1c.216+1G>T (n.216+1G>T)
c.477+1G>T (n.477+1G>T)
c.96+1G>T (n.96+1G>T)
c.123+1G>T (n.123+1G>T)
11g.2528020T>ACA379122265KCNQ1c.216+2T>A (n.216+2T>A)
c.477+2T>A (n.477+2T>A)
c.96+2T>A (n.96+2T>A)
c.123+2T>A (n.123+2T>A)
11g.2528020T>CCA379122271KCNQ1c.216+2T>C (n.216+2T>C)
c.477+2T>C (n.477+2T>C)
c.96+2T>C (n.96+2T>C)
c.123+2T>C (n.123+2T>C)
 ClinVar dbSNP COSMIC COSMIC
11g.2528020T>GCA379122270KCNQ1c.216+2T>G (n.216+2T>G)
c.477+2T>G (n.477+2T>G)
c.96+2T>G (n.96+2T>G)
c.123+2T>G (n.123+2T>G)
11g.2528022C>ACA674959832KCNQ1c.216+4C>A (n.216+4C>A)
c.477+4C>A (n.477+4C>A)
c.96+4C>A (n.96+4C>A)
c.123+4C>A (n.123+4C>A)
 dbSNP
11g.2528022C=CA1948196797KCNQ1c.216+4C= (n.216+4C=)
c.477+4C= (n.477+4C=)
c.96+4C= (n.96+4C=)
c.123+4C= (n.123+4C=)
11g.2528022C>GCA2499220863KCNQ1c.216+4C>G (n.216+4C>G)
c.477+4C>G (n.477+4C>G)
c.96+4C>G (n.96+4C>G)
c.123+4C>G (n.123+4C>G)
 ClinVar dbSNP
11g.2528022C>TCA037510KCNQ1c.216+4C>T (n.216+4C>T)
c.477+4C>T (n.477+4C>T)
c.96+4C>T (n.96+4C>T)
c.123+4C>T (n.123+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2528023G>ACA007174KCNQ1c.216+5G>A (n.216+5G>A)
c.477+5G>A (n.477+5G>A)
c.96+5G>A (n.96+5G>A)
c.123+5G>A (n.123+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2528023G>CCA007183KCNQ1c.216+5G>C (n.216+5G>C)
c.477+5G>C (n.477+5G>C)
c.96+5G>C (n.96+5G>C)
c.123+5G>C (n.123+5G>C)
 ClinVar dbSNP
11g.2528023G=CA1948196801KCNQ1c.216+5G= (n.216+5G=)
c.477+5G= (n.477+5G=)
c.96+5G= (n.96+5G=)
c.123+5G= (n.123+5G=)

Number of alleles fetched