Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2847784_2848146delCA2825001870KCNQ1,KCNQ1-AS1c.1455_*143del (n.[c.1455_*143del;Gln485HisfsTer28])
c.1812_*143del (n.[c.1812_*143del;Gln604HisfsTer28])
c.1431_*143del (n.[c.1431_*143del;Gln477HisfsTer28])
c.216_*143del (n.[c.216_*143del;Gln72HisfsTer28])
n.319_681del
n.778-7697_778-7335del
 ClinVar
11g.2847842_2847860delinsACCCCCGGCAGCGGCGGCCCA1948349625KCNQ1,KCNQ1-AS1c.1513_1531delinsACCCCCGGCAGCGGCGGCC (p.Thr505=)
c.1870_1888delinsACCCCCGGCAGCGGCGGCC (p.Thr624=)
c.1489_1507delinsACCCCCGGCAGCGGCGGCC (p.Thr497=)
c.274_292delinsACCCCCGGCAGCGGCGGCC (p.Thr92=)
n.377_395delinsACCCCCGGCAGCGGCGGCC
n.778-7418_778-7400delinsGGCCGCCGCTGCCGGGGGT
11g.2847848_2847865delCA006530KCNQ1,KCNQ1-AS1c.1519_1536del (p.Gly507_Pro512del)
c.1876_1893del (p.Gly626_Pro631del)
c.1495_1512del (p.Gly499_Pro504del)
c.280_297del (p.Gly94_Pro99del)
n.383_400del
n.778-7418_778-7401del
 ClinVar dbSNP gnomAD v4
11g.2847851A=CA1948349634KCNQ1,KCNQ1-AS1c.1522A= (p.Ser508=)
c.1879A= (p.Ser627=)
c.1498A= (p.Ser500=)
c.283A= (p.Ser95=)
n.386A=
n.778-7409T=
11g.2847851A>CCA379140349KCNQ1,KCNQ1-AS1c.1522A>C (p.Ser508Arg)
c.1879A>C (p.Ser627Arg)
c.1498A>C (p.Ser500Arg)
c.283A>C (p.Ser95Arg)
n.386A>C
n.778-7409T>G
11g.2847851A>GCA379140348KCNQ1,KCNQ1-AS1c.1522A>G (p.Ser508Gly)
c.1879A>G (p.Ser627Gly)
c.1498A>G (p.Ser500Gly)
c.283A>G (p.Ser95Gly)
n.386A>G
n.778-7409T>C
 dbSNP
11g.2847851A>TCA379140347KCNQ1,KCNQ1-AS1c.1522A>T (p.Ser508Cys)
c.1879A>T (p.Ser627Cys)
c.1498A>T (p.Ser500Cys)
c.283A>T (p.Ser95Cys)
n.386A>T
n.778-7409T>A
11g.2847852G>ACA379140350KCNQ1,KCNQ1-AS1c.1523G>A (p.Ser508Asn)
c.1880G>A (p.Ser627Asn)
c.1499G>A (p.Ser500Asn)
c.284G>A (p.Ser95Asn)
n.387G>A
n.778-7410C>T
11g.2847852G>CCA379140351KCNQ1,KCNQ1-AS1c.1523G>C (p.Ser508Thr)
c.1880G>C (p.Ser627Thr)
c.1499G>C (p.Ser500Thr)
c.284G>C (p.Ser95Thr)
n.387G>C
n.778-7410C>G
11g.2847852G>TCA379140352KCNQ1,KCNQ1-AS1c.1523G>T (p.Ser508Ile)
c.1880G>T (p.Ser627Ile)
c.1499G>T (p.Ser500Ile)
c.284G>T (p.Ser95Ile)
n.387G>T
n.778-7410C>A
 gnomAD v4
11g.2847853C>ACA379140353KCNQ1,KCNQ1-AS1c.1524C>A (p.Ser508Arg)
c.1881C>A (p.Ser627Arg)
c.1500C>A (p.Ser500Arg)
c.285C>A (p.Ser95Arg)
n.388C>A
n.778-7411G>T
 gnomAD v4
11g.2847853C=CA1948349635KCNQ1,KCNQ1-AS1c.1524C= (p.Ser508=)
c.1881C= (p.Ser627=)
c.1500C= (p.Ser500=)
c.285C= (p.Ser95=)
n.388C=
n.778-7411G=
11g.2847853C>GCA379140354KCNQ1,KCNQ1-AS1c.1524C>G (p.Ser508Arg)
c.1881C>G (p.Ser627Arg)
c.1500C>G (p.Ser500Arg)
c.285C>G (p.Ser95Arg)
n.388C>G
n.778-7411G>C
11g.2847853C>TCA033494KCNQ1,KCNQ1-AS1c.1524C>T (p.Ser508=)
c.1881C>T (p.Ser627=)
c.1500C>T (p.Ser500=)
c.285C>T (p.Ser95=)
n.388C>T
n.778-7411G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847854G>ACA033512KCNQ1,KCNQ1-AS1c.1525G>A (p.Gly509Ser)
c.1882G>A (p.Gly628Ser)
c.1501G>A (p.Gly501Ser)
c.286G>A (p.Gly96Ser)
n.389G>A
n.778-7412C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847854G>CCA379140356KCNQ1,KCNQ1-AS1c.1525G>C (p.Gly509Arg)
c.1882G>C (p.Gly628Arg)
c.1501G>C (p.Gly501Arg)
c.286G>C (p.Gly96Arg)
n.389G>C
n.778-7412C>G
11g.2847854G=CA1948349636KCNQ1,KCNQ1-AS1c.1525G= (p.Gly509=)
c.1882G= (p.Gly628=)
c.1501G= (p.Gly501=)
c.286G= (p.Gly96=)
n.389G=
n.778-7412C=
11g.2847854G>TCA379140355KCNQ1,KCNQ1-AS1c.1525G>T (p.Gly509Cys)
c.1882G>T (p.Gly628Cys)
c.1501G>T (p.Gly501Cys)
c.286G>T (p.Gly96Cys)
n.389G>T
n.778-7412C>A
11g.2847855G>ACA379140357KCNQ1,KCNQ1-AS1c.1526G>A (p.Gly509Asp)
c.1883G>A (p.Gly628Asp)
c.1502G>A (p.Gly501Asp)
c.287G>A (p.Gly96Asp)
n.390G>A
n.778-7413C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2847855G>CCA379140358KCNQ1,KCNQ1-AS1c.1526G>C (p.Gly509Ala)
c.1883G>C (p.Gly628Ala)
c.1502G>C (p.Gly501Ala)
c.287G>C (p.Gly96Ala)
n.390G>C
n.778-7413C>G
 dbSNP gnomAD v2
11g.2847855G=CA1948349637KCNQ1,KCNQ1-AS1c.1526G= (p.Gly509=)
c.1883G= (p.Gly628=)
c.1502G= (p.Gly501=)
c.287G= (p.Gly96=)
n.390G=
n.778-7413C=
11g.2847855G>TCA379140359KCNQ1,KCNQ1-AS1c.1526G>T (p.Gly509Val)
c.1883G>T (p.Gly628Val)
c.1502G>T (p.Gly501Val)
c.287G>T (p.Gly96Val)
n.390G>T
n.778-7413C>A
 gnomAD v4
11g.2847856C>ACA472466506KCNQ1,KCNQ1-AS1c.1527C>A (p.Gly509=)
c.1884C>A (p.Gly628=)
c.1503C>A (p.Gly501=)
c.288C>A (p.Gly96=)
n.391C>A
n.778-7414G>T
 gnomAD v4
11g.2847856C=CA1948349638KCNQ1,KCNQ1-AS1c.1527C= (p.Gly509=)
c.1884C= (p.Gly628=)
c.1503C= (p.Gly501=)
c.288C= (p.Gly96=)
n.391C=
n.778-7414G=
11g.2847856C>GCA472466510KCNQ1,KCNQ1-AS1c.1527C>G (p.Gly509=)
c.1884C>G (p.Gly628=)
c.1503C>G (p.Gly501=)
c.288C>G (p.Gly96=)
n.391C>G
n.778-7414G>C
 ClinVar dbSNP
11g.2847856C>TCA033530KCNQ1,KCNQ1-AS1c.1527C>T (p.Gly509=)
c.1884C>T (p.Gly628=)
c.1503C>T (p.Gly501=)
c.288C>T (p.Gly96=)
n.391C>T
n.778-7414G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847857G>ACA033561KCNQ1,KCNQ1-AS1c.1528G>A (p.Gly510Ser)
c.1885G>A (p.Gly629Ser)
c.1504G>A (p.Gly502Ser)
c.289G>A (p.Gly97Ser)
n.392G>A
n.778-7415C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847857G>CCA379140361KCNQ1,KCNQ1-AS1c.1528G>C (p.Gly510Arg)
c.1885G>C (p.Gly629Arg)
c.1504G>C (p.Gly502Arg)
c.289G>C (p.Gly97Arg)
n.392G>C
n.778-7415C>G
 gnomAD v4
11g.2847857G=CA1948349639KCNQ1,KCNQ1-AS1c.1528G= (p.Gly510=)
c.1885G= (p.Gly629=)
c.1504G= (p.Gly502=)
c.289G= (p.Gly97=)
n.392G=
n.778-7415C=
11g.2847857G>TCA379140360KCNQ1,KCNQ1-AS1c.1528G>T (p.Gly510Cys)
c.1885G>T (p.Gly629Cys)
c.1504G>T (p.Gly502Cys)
c.289G>T (p.Gly97Cys)
n.392G>T
n.778-7415C>A
 gnomAD v4
11g.2847858dupCA216345189KCNQ1,KCNQ1-AS1c.1529dup (p.Arg513GlnfsTer20)
c.1886dup (p.Arg632GlnfsTer20)
c.1505dup (p.Arg505GlnfsTer20)
c.290dup (p.Arg100GlnfsTer20)
n.393dup
n.778-7415dup
 dbSNP
11g.2847858G>ACA379140362KCNQ1,KCNQ1-AS1c.1529G>A (p.Gly510Asp)
c.1886G>A (p.Gly629Asp)
c.1505G>A (p.Gly502Asp)
c.290G>A (p.Gly97Asp)
n.393G>A
n.778-7416C>T
 gnomAD v4
11g.2847858G>CCA379140363KCNQ1,KCNQ1-AS1c.1529G>C (p.Gly510Ala)
c.1886G>C (p.Gly629Ala)
c.1505G>C (p.Gly502Ala)
c.290G>C (p.Gly97Ala)
n.393G>C
n.778-7416C>G
 gnomAD v4
11g.2847858G=CA1948349641KCNQ1,KCNQ1-AS1c.1529G= (p.Gly510=)
c.1886G= (p.Gly629=)
c.1505G= (p.Gly502=)
c.290G= (p.Gly97=)
n.393G=
n.778-7416C=
11g.2847858G>TCA379140364KCNQ1,KCNQ1-AS1c.1529G>T (p.Gly510Val)
c.1886G>T (p.Gly629Val)
c.1505G>T (p.Gly502Val)
c.290G>T (p.Gly97Val)
n.393G>T
n.778-7416C>A
 ClinVar dbSNP gnomAD v4
11g.2847858_2847859delinsGCCA1948349640KCNQ1,KCNQ1-AS1c.1529_1530delinsGC (p.Gly510=)
c.1886_1887delinsGC (p.Gly629=)
c.1505_1506delinsGC (p.Gly502=)
c.290_291delinsGC (p.Gly97=)
n.393_394delinsGC
n.778-7417_778-7416delinsGC
11g.2847859C>ACA472466521KCNQ1,KCNQ1-AS1c.1530C>A (p.Gly510=)
c.1887C>A (p.Gly629=)
c.1506C>A (p.Gly502=)
c.291C>A (p.Gly97=)
n.394C>A
n.778-7417G>T
 gnomAD v4
11g.2847859C=CA1948349642KCNQ1,KCNQ1-AS1c.1530C= (p.Gly510=)
c.1887C= (p.Gly629=)
c.1506C= (p.Gly502=)
c.291C= (p.Gly97=)
n.394C=
n.778-7417G=
11g.2847859C>GCA033594KCNQ1,KCNQ1-AS1c.1530C>G (p.Gly510=)
c.1887C>G (p.Gly629=)
c.1506C>G (p.Gly502=)
c.291C>G (p.Gly97=)
n.394C>G
n.778-7417G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847859C>TCA472466524KCNQ1,KCNQ1-AS1c.1530C>T (p.Gly510=)
c.1887C>T (p.Gly629=)
c.1506C>T (p.Gly502=)
c.291C>T (p.Gly97=)
n.394C>T
n.778-7417G>A
 ClinVar dbSNP gnomAD v4
11g.2847865dupCA252591KCNQ1,KCNQ1-AS1c.1536dup (p.Arg513GlnfsTer20)
c.1893dup (p.Arg632GlnfsTer20)
c.1512dup (p.Arg505GlnfsTer20)
c.297dup (p.Arg100GlnfsTer20)
n.400dup
n.778-7417dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847863_2847865dupCA2574728563KCNQ1,KCNQ1-AS1c.1534_1536dup (p.Pro512_Arg513insPro)
c.1891_1893dup (p.Pro631_Arg632insPro)
c.1510_1512dup (p.Pro504_Arg505insPro)
c.295_297dup (p.Pro99_Arg100insPro)
n.398_400dup
n.778-7419_778-7417dup
11g.2847865delCA006577KCNQ1,KCNQ1-AS1c.1536del (p.Arg513GlufsTer?)
c.1893del (p.Arg632GlufsTer?)
c.1512del (p.Arg505GlufsTer?)
c.297del (p.Arg100GlufsTer?)
n.400del
n.778-7417del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847860C>ACA033609KCNQ1,KCNQ1-AS1c.1531C>A (p.Pro511Thr)
c.1888C>A (p.Pro630Thr)
c.1507C>A (p.Pro503Thr)
c.292C>A (p.Pro98Thr)
n.395C>A
n.778-7418G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847860C=CA1948349643KCNQ1,KCNQ1-AS1c.1531C= (p.Pro511=)
c.1888C= (p.Pro630=)
c.1507C= (p.Pro503=)
c.292C= (p.Pro98=)
n.395C=
n.778-7418G=
11g.2847860C>GCA006546KCNQ1,KCNQ1-AS1c.1531C>G (p.Pro511Ala)
c.1888C>G (p.Pro630Ala)
c.1507C>G (p.Pro503Ala)
c.292C>G (p.Pro98Ala)
n.395C>G
n.778-7418G>C
 ClinVar dbSNP gnomAD v4
11g.2847860C>TCA216345218KCNQ1,KCNQ1-AS1c.1531C>T (p.Pro511Ser)
c.1888C>T (p.Pro630Ser)
c.1507C>T (p.Pro503Ser)
c.292C>T (p.Pro98Ser)
n.395C>T
n.778-7418G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847861C>ACA379140365KCNQ1,KCNQ1-AS1c.1532C>A (p.Pro511His)
c.1889C>A (p.Pro630His)
c.1508C>A (p.Pro503His)
c.293C>A (p.Pro98His)
n.396C>A
n.778-7419G>T
 gnomAD v4
11g.2847861C>GCA379140366KCNQ1,KCNQ1-AS1c.1532C>G (p.Pro511Arg)
c.1889C>G (p.Pro630Arg)
c.1508C>G (p.Pro503Arg)
c.293C>G (p.Pro98Arg)
n.396C>G
n.778-7419G>C
11g.2847861C>TCA379140367KCNQ1,KCNQ1-AS1c.1532C>T (p.Pro511Leu)
c.1889C>T (p.Pro630Leu)
c.1508C>T (p.Pro503Leu)
c.293C>T (p.Pro98Leu)
n.396C>T
n.778-7419G>A
 gnomAD v4
11g.2847862C>ACA472466540KCNQ1,KCNQ1-AS1c.1533C>A (p.Pro511=)
c.1890C>A (p.Pro630=)
c.1509C>A (p.Pro503=)
c.294C>A (p.Pro98=)
n.397C>A
n.778-7420G>T
 gnomAD v4
11g.2847862C=CA1948349645KCNQ1,KCNQ1-AS1c.1533C= (p.Pro511=)
c.1890C= (p.Pro630=)
c.1509C= (p.Pro503=)
c.294C= (p.Pro98=)
n.397C=
n.778-7420G=
11g.2847862C>GCA472466543KCNQ1,KCNQ1-AS1c.1533C>G (p.Pro511=)
c.1890C>G (p.Pro630=)
c.1509C>G (p.Pro503=)
c.294C>G (p.Pro98=)
n.397C>G
n.778-7420G>C
11g.2847862C>TCA472466546KCNQ1,KCNQ1-AS1c.1533C>T (p.Pro511=)
c.1890C>T (p.Pro630=)
c.1509C>T (p.Pro503=)
c.294C>T (p.Pro98=)
n.397C>T
n.778-7420G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.2847862_2847882delinsCCCCAGAGAGGGCGGGGCCCACA1948349644KCNQ1,KCNQ1-AS1c.1533_1553delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro511=)
c.1890_1910delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro630=)
c.1509_1529delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro503=)
c.294_314delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro98=)
n.397_417delinsCCCCAGAGAGGGCGGGGCCCA
n.778-7440_778-7420delinsTGGGCCCCGCCCTCTCTGGGG
11g.2847863C>ACA379140368KCNQ1,KCNQ1-AS1c.1534C>A (p.Pro512Thr)
c.1891C>A (p.Pro631Thr)
c.1510C>A (p.Pro504Thr)
c.295C>A (p.Pro99Thr)
n.398C>A
n.778-7421G>T
 gnomAD v4
11g.2847863C=CA1948349646KCNQ1,KCNQ1-AS1c.1534C= (p.Pro512=)
c.1891C= (p.Pro631=)
c.1510C= (p.Pro504=)
c.295C= (p.Pro99=)
n.398C=
n.778-7421G=
11g.2847863C>GCA379140369KCNQ1,KCNQ1-AS1c.1534C>G (p.Pro512Ala)
c.1891C>G (p.Pro631Ala)
c.1510C>G (p.Pro504Ala)
c.295C>G (p.Pro99Ala)
n.398C>G
n.778-7421G>C
 ClinVar
11g.2847863C>TCA379140370KCNQ1,KCNQ1-AS1c.1534C>T (p.Pro512Ser)
c.1891C>T (p.Pro631Ser)
c.1510C>T (p.Pro504Ser)
c.295C>T (p.Pro99Ser)
n.398C>T
n.778-7421G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847864_2847883delCA006551KCNQ1,KCNQ1-AS1c.1535_1554del (p.Pro512HisfsTer14)
c.1892_1911del (p.Pro631HisfsTer14)
c.1511_1530del (p.Pro504HisfsTer14)
c.296_315del (p.Pro99HisfsTer14)
n.399_418del
n.778-7440_778-7421del
 ClinVar dbSNP
11g.2847864C>ACA379140373KCNQ1,KCNQ1-AS1c.1535C>A (p.Pro512His)
c.1892C>A (p.Pro631His)
c.1511C>A (p.Pro504His)
c.296C>A (p.Pro99His)
n.399C>A
n.778-7422G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847864C=CA1948349647KCNQ1,KCNQ1-AS1c.1535C= (p.Pro512=)
c.1892C= (p.Pro631=)
c.1511C= (p.Pro504=)
c.296C= (p.Pro99=)
n.399C=
n.778-7422G=
11g.2847864C>GCA379140372KCNQ1,KCNQ1-AS1c.1535C>G (p.Pro512Arg)
c.1892C>G (p.Pro631Arg)
c.1511C>G (p.Pro504Arg)
c.296C>G (p.Pro99Arg)
n.399C>G
n.778-7422G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847864C>TCA379140371KCNQ1,KCNQ1-AS1c.1535C>T (p.Pro512Leu)
c.1892C>T (p.Pro631Leu)
c.1511C>T (p.Pro504Leu)
c.296C>T (p.Pro99Leu)
n.399C>T
n.778-7422G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2847865C>ACA472466557KCNQ1,KCNQ1-AS1c.1536C>A (p.Pro512=)
c.1893C>A (p.Pro631=)
c.1512C>A (p.Pro504=)
c.297C>A (p.Pro99=)
n.400C>A
n.778-7423G>T
 ClinVar gnomAD v4
11g.2847865C=CA1948349648KCNQ1,KCNQ1-AS1c.1536C= (p.Pro512=)
c.1893C= (p.Pro631=)
c.1512C= (p.Pro504=)
c.297C= (p.Pro99=)
n.400C=
n.778-7423G=
11g.2847865C>GCA472466554KCNQ1,KCNQ1-AS1c.1536C>G (p.Pro512=)
c.1893C>G (p.Pro631=)
c.1512C>G (p.Pro504=)
c.297C>G (p.Pro99=)
n.400C>G
n.778-7423G>C
11g.2847865C>TCA216345225KCNQ1,KCNQ1-AS1c.1536C>T (p.Pro512=)
c.1893C>T (p.Pro631=)
c.1512C>T (p.Pro504=)
c.297C>T (p.Pro99=)
n.400C>T
n.778-7423G>A
 dbSNP gnomAD v3 gnomAD v4
11g.2847867_2847884delCA2612011342KCNQ1,KCNQ1-AS1c.1538_1555del (p.Arg513_His518del)
c.1895_1912del (p.Arg632_His637del)
c.1514_1531del (p.Arg505_His510del)
c.299_316del (p.Arg100_His105del)
n.402_419del
n.778-7440_778-7423del
 gnomAD v4
11g.2847866A=CA2580983519KCNQ1,KCNQ1-AS1c.1537A= (p.Arg513=)
c.1894A= (p.Arg632=)
c.1513A= (p.Arg505=)
c.298A= (p.Arg100=)
n.401A=
n.778-7424T=
11g.2847866A>CCA472466562KCNQ1,KCNQ1-AS1c.1537A>C (p.Arg513=)
c.1894A>C (p.Arg632=)
c.1513A>C (p.Arg505=)
c.298A>C (p.Arg100=)
n.401A>C
n.778-7424T>G
11g.2847866A>GCA379140374KCNQ1,KCNQ1-AS1c.1537A>G (p.Arg513Gly)
c.1894A>G (p.Arg632Gly)
c.1513A>G (p.Arg505Gly)
c.298A>G (p.Arg100Gly)
n.401A>G
n.778-7424T>C
 gnomAD v4
11g.2847866A>TCA379140375KCNQ1,KCNQ1-AS1c.1537A>T (p.Arg513Ter)
c.1894A>T (p.Arg632Ter)
c.1513A>T (p.Arg505Ter)
c.298A>T (p.Arg100Ter)
n.401A>T
n.778-7424T>A
11g.2847866dupCA006566KCNQ1,KCNQ1-AS1c.1537dup (p.Arg513LysfsTer20)
c.1894dup (p.Arg632LysfsTer20)
c.1513dup (p.Arg505LysfsTer20)
c.298dup (p.Arg100LysfsTer20)
n.401dup
n.778-7424dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847867G>ACA379140376KCNQ1,KCNQ1-AS1c.1538G>A (p.Arg513Lys)
c.1895G>A (p.Arg632Lys)
c.1514G>A (p.Arg505Lys)
c.299G>A (p.Arg100Lys)
n.402G>A
n.778-7425C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.2847867G>CCA379140377KCNQ1,KCNQ1-AS1c.1538G>C (p.Arg513Thr)
c.1895G>C (p.Arg632Thr)
c.1514G>C (p.Arg505Thr)
c.299G>C (p.Arg100Thr)
n.402G>C
n.778-7425C>G
 gnomAD v4 COSMIC COSMIC
11g.2847867G=CA1948349649KCNQ1,KCNQ1-AS1c.1538G= (p.Arg513=)
c.1895G= (p.Arg632=)
c.1514G= (p.Arg505=)
c.299G= (p.Arg100=)
n.402G=
n.778-7425C=
11g.2847867G>TCA379140378KCNQ1,KCNQ1-AS1c.1538G>T (p.Arg513Ile)
c.1895G>T (p.Arg632Ile)
c.1514G>T (p.Arg505Ile)
c.299G>T (p.Arg100Ile)
n.402G>T
n.778-7425C>A
 gnomAD v4
11g.2847868A=CA1948349650KCNQ1,KCNQ1-AS1c.1539A= (p.Arg513=)
c.1896A= (p.Arg632=)
c.1515A= (p.Arg505=)
c.300A= (p.Arg100=)
n.403A=
n.778-7426T=
11g.2847868A>CCA379140379KCNQ1,KCNQ1-AS1c.1539A>C (p.Arg513Ser)
c.1896A>C (p.Arg632Ser)
c.1515A>C (p.Arg505Ser)
c.300A>C (p.Arg100Ser)
n.403A>C
n.778-7426T>G
 gnomAD v4
11g.2847868A>GCA472466588KCNQ1,KCNQ1-AS1c.1539A>G (p.Arg513=)
c.1896A>G (p.Arg632=)
c.1515A>G (p.Arg505=)
c.300A>G (p.Arg100=)
n.403A>G
n.778-7426T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847868A>TCA379140380KCNQ1,KCNQ1-AS1c.1539A>T (p.Arg513Ser)
c.1896A>T (p.Arg632Ser)
c.1515A>T (p.Arg505Ser)
c.300A>T (p.Arg100Ser)
n.403A>T
n.778-7426T>A
11g.2847869G>ACA379140381KCNQ1,KCNQ1-AS1c.1540G>A (p.Glu514Lys)
c.1897G>A (p.Glu633Lys)
c.1516G>A (p.Glu506Lys)
c.301G>A (p.Glu101Lys)
n.404G>A
n.778-7427C>T
 gnomAD v4
11g.2847869G>CCA379140382KCNQ1,KCNQ1-AS1c.1540G>C (p.Glu514Gln)
c.1897G>C (p.Glu633Gln)
c.1516G>C (p.Glu506Gln)
c.301G>C (p.Glu101Gln)
n.404G>C
n.778-7427C>G
 dbSNP gnomAD v3 gnomAD v4
11g.2847869G=CA1948349651KCNQ1,KCNQ1-AS1c.1540G= (p.Glu514=)
c.1897G= (p.Glu633=)
c.1516G= (p.Glu506=)
c.301G= (p.Glu101=)
n.404G=
n.778-7427C=
11g.2847869G>TCA379140383KCNQ1,KCNQ1-AS1c.1540G>T (p.Glu514Ter)
c.1897G>T (p.Glu633Ter)
c.1516G>T (p.Glu506Ter)
c.301G>T (p.Glu101Ter)
n.404G>T
n.778-7427C>A
 gnomAD v4
11g.2847870A>CCA379140386KCNQ1,KCNQ1-AS1c.1541A>C (p.Glu514Ala)
c.1898A>C (p.Glu633Ala)
c.1517A>C (p.Glu506Ala)
c.302A>C (p.Glu101Ala)
n.405A>C
n.778-7428T>G
11g.2847870A>GCA379140384KCNQ1,KCNQ1-AS1c.1541A>G (p.Glu514Gly)
c.1898A>G (p.Glu633Gly)
c.1517A>G (p.Glu506Gly)
c.302A>G (p.Glu101Gly)
n.405A>G
n.778-7428T>C
11g.2847870A>TCA379140385KCNQ1,KCNQ1-AS1c.1541A>T (p.Glu514Val)
c.1898A>T (p.Glu633Val)
c.1517A>T (p.Glu506Val)
c.302A>T (p.Glu101Val)
n.405A>T
n.778-7428T>A
11g.2847871G>ACA472466601KCNQ1,KCNQ1-AS1c.1542G>A (p.Glu514=)
c.1899G>A (p.Glu633=)
c.1518G>A (p.Glu506=)
c.303G>A (p.Glu101=)
n.406G>A
n.778-7429C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847871G>CCA379140387KCNQ1,KCNQ1-AS1c.1542G>C (p.Glu514Asp)
c.1899G>C (p.Glu633Asp)
c.1518G>C (p.Glu506Asp)
c.303G>C (p.Glu101Asp)
n.406G>C
n.778-7429C>G
11g.2847871G=CA1948349652KCNQ1,KCNQ1-AS1c.1542G= (p.Glu514=)
c.1899G= (p.Glu633=)
c.1518G= (p.Glu506=)
c.303G= (p.Glu101=)
n.406G=
n.778-7429C=
11g.2847871G>TCA379140388KCNQ1,KCNQ1-AS1c.1542G>T (p.Glu514Asp)
c.1899G>T (p.Glu633Asp)
c.1518G>T (p.Glu506Asp)
c.303G>T (p.Glu101Asp)
n.406G>T
n.778-7429C>A
 gnomAD v4
11g.2847872G>ACA379140389KCNQ1,KCNQ1-AS1c.1543G>A (p.Gly515Ser)
c.1900G>A (p.Gly634Ser)
c.1519G>A (p.Gly507Ser)
c.304G>A (p.Gly102Ser)
n.407G>A
n.778-7430C>T
 gnomAD v4
11g.2847872G>CCA379140390KCNQ1,KCNQ1-AS1c.1543G>C (p.Gly515Arg)
c.1900G>C (p.Gly634Arg)
c.1519G>C (p.Gly507Arg)
c.304G>C (p.Gly102Arg)
n.407G>C
n.778-7430C>G
11g.2847872G>TCA379140391KCNQ1,KCNQ1-AS1c.1543G>T (p.Gly515Cys)
c.1900G>T (p.Gly634Cys)
c.1519G>T (p.Gly507Cys)
c.304G>T (p.Gly102Cys)
n.407G>T
n.778-7430C>A
 gnomAD v4
11g.2847873G>ACA379140392KCNQ1,KCNQ1-AS1c.1544G>A (p.Gly515Asp)
c.1901G>A (p.Gly634Asp)
c.1520G>A (p.Gly507Asp)
c.305G>A (p.Gly102Asp)
n.408G>A
n.778-7431C>T
 gnomAD v4
11g.2847873G>CCA379140393KCNQ1,KCNQ1-AS1c.1544G>C (p.Gly515Ala)
c.1901G>C (p.Gly634Ala)
c.1520G>C (p.Gly507Ala)
c.305G>C (p.Gly102Ala)
n.408G>C
n.778-7431C>G
11g.2847873G>TCA379140394KCNQ1,KCNQ1-AS1c.1544G>T (p.Gly515Val)
c.1901G>T (p.Gly634Val)
c.1520G>T (p.Gly507Val)
c.305G>T (p.Gly102Val)
n.408G>T
n.778-7431C>A
 gnomAD v4
11g.2847874C>ACA472466638KCNQ1,KCNQ1-AS1c.1545C>A (p.Gly515=)
c.1902C>A (p.Gly634=)
c.1521C>A (p.Gly507=)
c.306C>A (p.Gly102=)
n.409C>A
n.778-7432G>T
 dbSNP gnomAD v2 gnomAD v4
11g.2847874C=CA1948349653KCNQ1,KCNQ1-AS1c.1545C= (p.Gly515=)
c.1902C= (p.Gly634=)
c.1521C= (p.Gly507=)
c.306C= (p.Gly102=)
n.409C=
n.778-7432G=
11g.2847874C>GCA472466641KCNQ1,KCNQ1-AS1c.1545C>G (p.Gly515=)
c.1902C>G (p.Gly634=)
c.1521C>G (p.Gly507=)
c.306C>G (p.Gly102=)
n.409C>G
n.778-7432G>C
11g.2847874C>TCA033650KCNQ1,KCNQ1-AS1c.1545C>T (p.Gly515=)
c.1902C>T (p.Gly634=)
c.1521C>T (p.Gly507=)
c.306C>T (p.Gly102=)
n.409C>T
n.778-7432G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847875G>ACA006589KCNQ1,KCNQ1-AS1c.1546G>A (p.Gly516Arg)
c.1903G>A (p.Gly635Arg)
c.1522G>A (p.Gly508Arg)
c.307G>A (p.Gly103Arg)
n.410G>A
n.778-7433C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847875G>CCA379140396KCNQ1,KCNQ1-AS1c.1546G>C (p.Gly516Arg)
c.1903G>C (p.Gly635Arg)
c.1522G>C (p.Gly508Arg)
c.307G>C (p.Gly103Arg)
n.410G>C
n.778-7433C>G
11g.2847875G=CA1948349654KCNQ1,KCNQ1-AS1c.1546G= (p.Gly516=)
c.1903G= (p.Gly635=)
c.1522G= (p.Gly508=)
c.307G= (p.Gly103=)
n.410G=
n.778-7433C=
11g.2847875G>TCA379140395KCNQ1,KCNQ1-AS1c.1546G>T (p.Gly516Trp)
c.1903G>T (p.Gly635Trp)
c.1522G>T (p.Gly508Trp)
c.307G>T (p.Gly103Trp)
n.410G>T
n.778-7433C>A
 gnomAD v4
11g.2847878dupCA658656103KCNQ1,KCNQ1-AS1c.1549dup (p.Ala517GlyfsTer16)
c.1906dup (p.Ala636GlyfsTer16)
c.1525dup (p.Ala509GlyfsTer16)
c.310dup (p.Ala104GlyfsTer16)
n.413dup
n.778-7433dup
 ClinVar dbSNP gnomAD v4
11g.2847878delCA2612011410KCNQ1,KCNQ1-AS1c.1549del (p.Ala517ProfsTer30)
c.1906del (p.Ala636ProfsTer30)
c.1525del (p.Ala509ProfsTer30)
c.310del (p.Ala104ProfsTer30)
n.413del
n.778-7433del
 gnomAD v4
11g.2847876G>ACA216345239KCNQ1,KCNQ1-AS1c.1547G>A (p.Gly516Glu)
c.1904G>A (p.Gly635Glu)
c.1523G>A (p.Gly508Glu)
c.308G>A (p.Gly103Glu)
n.411G>A
n.778-7434C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847876G>CCA379140397KCNQ1,KCNQ1-AS1c.1547G>C (p.Gly516Ala)
c.1904G>C (p.Gly635Ala)
c.1523G>C (p.Gly508Ala)
c.308G>C (p.Gly103Ala)
n.411G>C
n.778-7434C>G
11g.2847876G=CA1948349655KCNQ1,KCNQ1-AS1c.1547G= (p.Gly516=)
c.1904G= (p.Gly635=)
c.1523G= (p.Gly508=)
c.308G= (p.Gly103=)
n.411G=
n.778-7434C=
11g.2847876G>TCA379140398KCNQ1,KCNQ1-AS1c.1547G>T (p.Gly516Val)
c.1904G>T (p.Gly635Val)
c.1523G>T (p.Gly508Val)
c.308G>T (p.Gly103Val)
n.411G>T
n.778-7434C>A
 gnomAD v4
11g.2847877G>ACA216345249KCNQ1,KCNQ1-AS1c.1548G>A (p.Gly516=)
c.1905G>A (p.Gly635=)
c.1524G>A (p.Gly508=)
c.309G>A (p.Gly103=)
n.412G>A
n.778-7435C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847877G>CCA472466647KCNQ1,KCNQ1-AS1c.1548G>C (p.Gly516=)
c.1905G>C (p.Gly635=)
c.1524G>C (p.Gly508=)
c.309G>C (p.Gly103=)
n.412G>C
n.778-7435C>G
11g.2847877G=CA1948349656KCNQ1,KCNQ1-AS1c.1548G= (p.Gly516=)
c.1905G= (p.Gly635=)
c.1524G= (p.Gly508=)
c.309G= (p.Gly103=)
n.412G=
n.778-7435C=
11g.2847877G>TCA472466650KCNQ1,KCNQ1-AS1c.1548G>T (p.Gly516=)
c.1905G>T (p.Gly635=)
c.1524G>T (p.Gly508=)
c.309G>T (p.Gly103=)
n.412G>T
n.778-7435C>A
 gnomAD v4
11g.2847878G>ACA379140399KCNQ1,KCNQ1-AS1c.1549G>A (p.Ala517Thr)
c.1906G>A (p.Ala636Thr)
c.1525G>A (p.Ala509Thr)
c.310G>A (p.Ala104Thr)
n.413G>A
n.778-7436C>T
 gnomAD v4
11g.2847878G>CCA379140400KCNQ1,KCNQ1-AS1c.1549G>C (p.Ala517Pro)
c.1906G>C (p.Ala636Pro)
c.1525G>C (p.Ala509Pro)
c.310G>C (p.Ala104Pro)
n.413G>C
n.778-7436C>G
11g.2847878G>TCA379140401KCNQ1,KCNQ1-AS1c.1549G>T (p.Ala517Ser)
c.1906G>T (p.Ala636Ser)
c.1525G>T (p.Ala509Ser)
c.310G>T (p.Ala104Ser)
n.413G>T
n.778-7436C>A
11g.2847878_2847879delinsGCCA1948349657KCNQ1,KCNQ1-AS1c.1549_1550delinsGC (p.Ala517=)
c.1906_1907delinsGC (p.Ala636=)
c.1525_1526delinsGC (p.Ala509=)
c.310_311delinsGC (p.Ala104=)
n.413_414delinsGC
n.778-7437_778-7436delinsGC
11g.2847879C>ACA379140402KCNQ1,KCNQ1-AS1c.1550C>A (p.Ala517Asp)
c.1907C>A (p.Ala636Asp)
c.1526C>A (p.Ala509Asp)
c.311C>A (p.Ala104Asp)
n.414C>A
n.778-7437G>T
 gnomAD v4
11g.2847879C>GCA379140403KCNQ1,KCNQ1-AS1c.1550C>G (p.Ala517Gly)
c.1907C>G (p.Ala636Gly)
c.1526C>G (p.Ala509Gly)
c.311C>G (p.Ala104Gly)
n.414C>G
n.778-7437G>C
11g.2847879C>TCA379140404KCNQ1,KCNQ1-AS1c.1550C>T (p.Ala517Val)
c.1907C>T (p.Ala636Val)
c.1526C>T (p.Ala509Val)
c.311C>T (p.Ala104Val)
n.414C>T
n.778-7437G>A
 gnomAD v4
11g.2847881delCA658761312KCNQ1,KCNQ1-AS1c.1552del (p.His518ThrfsTer29)
c.1909del (p.His637ThrfsTer29)
c.1528del (p.His510ThrfsTer29)
c.313del (p.His105ThrfsTer29)
n.416del
n.778-7437del
 dbSNP gnomAD v3 gnomAD v4
11g.2847880C>ACA472466665KCNQ1,KCNQ1-AS1c.1551C>A (p.Ala517=)
c.1908C>A (p.Ala636=)
c.1527C>A (p.Ala509=)
c.312C>A (p.Ala104=)
n.415C>A
n.778-7438G>T
 gnomAD v4
11g.2847880C=CA1948349658KCNQ1,KCNQ1-AS1c.1551C= (p.Ala517=)
c.1908C= (p.Ala636=)
c.1527C= (p.Ala509=)
c.312C= (p.Ala104=)
n.415C=
n.778-7438G=
11g.2847880C>GCA472466664KCNQ1,KCNQ1-AS1c.1551C>G (p.Ala517=)
c.1908C>G (p.Ala636=)
c.1527C>G (p.Ala509=)
c.312C>G (p.Ala104=)
n.415C>G
n.778-7438G>C
 ClinVar dbSNP gnomAD v4
11g.2847880C>TCA033688KCNQ1,KCNQ1-AS1c.1551C>T (p.Ala517=)
c.1908C>T (p.Ala636=)
c.1527C>T (p.Ala509=)
c.312C>T (p.Ala104=)
n.415C>T
n.778-7438G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847881C>ACA379140405KCNQ1,KCNQ1-AS1c.1552C>A (p.His518Asn)
c.1909C>A (p.His637Asn)
c.1528C>A (p.His510Asn)
c.313C>A (p.His105Asn)
n.416C>A
n.778-7439G>T
 gnomAD v4
11g.2847881C=CA1948349659KCNQ1,KCNQ1-AS1c.1552C= (p.His518=)
c.1909C= (p.His637=)
c.1528C= (p.His510=)
c.313C= (p.His105=)
n.416C=
n.778-7439G=
11g.2847881C>GCA379140406KCNQ1,KCNQ1-AS1c.1552C>G (p.His518Asp)
c.1909C>G (p.His637Asp)
c.1528C>G (p.His510Asp)
c.313C>G (p.His105Asp)
n.416C>G
n.778-7439G>C
11g.2847881C>TCA379140407KCNQ1,KCNQ1-AS1c.1552C>T (p.His518Tyr)
c.1909C>T (p.His637Tyr)
c.1528C>T (p.His510Tyr)
c.313C>T (p.His105Tyr)
n.416C>T
n.778-7439G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847882A>CCA379140408KCNQ1,KCNQ1-AS1c.1553A>C (p.His518Pro)
c.1910A>C (p.His637Pro)
c.1529A>C (p.His510Pro)
c.314A>C (p.His105Pro)
n.417A>C
n.778-7440T>G
11g.2847882A>GCA379140410KCNQ1,KCNQ1-AS1c.1553A>G (p.His518Arg)
c.1910A>G (p.His637Arg)
c.1529A>G (p.His510Arg)
c.314A>G (p.His105Arg)
n.417A>G
n.778-7440T>C
 gnomAD v4
11g.2847882A>TCA379140409KCNQ1,KCNQ1-AS1c.1553A>T (p.His518Leu)
c.1910A>T (p.His637Leu)
c.1529A>T (p.His510Leu)
c.314A>T (p.His105Leu)
n.417A>T
n.778-7440T>A
11g.2847883C>ACA379140411KCNQ1,KCNQ1-AS1c.1554C>A (p.His518Gln)
c.1911C>A (p.His637Gln)
c.1530C>A (p.His510Gln)
c.315C>A (p.His105Gln)
n.418C>A
n.778-7441G>T
 gnomAD v4
11g.2847883C>GCA379140412KCNQ1,KCNQ1-AS1c.1554C>G (p.His518Gln)
c.1911C>G (p.His637Gln)
c.1530C>G (p.His510Gln)
c.315C>G (p.His105Gln)
n.418C>G
n.778-7441G>C
11g.2847883C>TCA472466682KCNQ1,KCNQ1-AS1c.1554C>T (p.His518=)
c.1911C>T (p.His637=)
c.1530C>T (p.His510=)
c.315C>T (p.His105=)
n.418C>T
n.778-7441G>A
 ClinVar dbSNP gnomAD v4
11g.2847884A=CA1948349660KCNQ1,KCNQ1-AS1c.1555A= (p.Ile519=)
c.1912A= (p.Ile638=)
c.1531A= (p.Ile511=)
c.316A= (p.Ile106=)
n.419A=
n.778-7442T=
11g.2847884A>CCA379140413KCNQ1,KCNQ1-AS1c.1555A>C (p.Ile519Leu)
c.1912A>C (p.Ile638Leu)
c.1531A>C (p.Ile511Leu)
c.316A>C (p.Ile106Leu)
n.419A>C
n.778-7442T>G
11g.2847884A>GCA379140414KCNQ1,KCNQ1-AS1c.1555A>G (p.Ile519Val)
c.1912A>G (p.Ile638Val)
c.1531A>G (p.Ile511Val)
c.316A>G (p.Ile106Val)
n.419A>G
n.778-7442T>C
 dbSNP gnomAD v4
11g.2847884A>TCA379140415KCNQ1,KCNQ1-AS1c.1555A>T (p.Ile519Phe)
c.1912A>T (p.Ile638Phe)
c.1531A>T (p.Ile511Phe)
c.316A>T (p.Ile106Phe)
n.419A>T
n.778-7442T>A
 gnomAD v4
11g.2847885T>ACA379140416KCNQ1,KCNQ1-AS1c.1556T>A (p.Ile519Asn)
c.1913T>A (p.Ile638Asn)
c.1532T>A (p.Ile511Asn)
c.317T>A (p.Ile106Asn)
n.420T>A
n.778-7443A>T
 gnomAD v4
11g.2847885T>CCA379140417KCNQ1,KCNQ1-AS1c.1556T>C (p.Ile519Thr)
c.1913T>C (p.Ile638Thr)
c.1532T>C (p.Ile511Thr)
c.317T>C (p.Ile106Thr)
n.420T>C
n.778-7443A>G
 gnomAD v4
11g.2847885T>GCA379140418KCNQ1,KCNQ1-AS1c.1556T>G (p.Ile519Ser)
c.1913T>G (p.Ile638Ser)
c.1532T>G (p.Ile511Ser)
c.317T>G (p.Ile106Ser)
n.420T>G
n.778-7443A>C
11g.2847886C>ACA472466701KCNQ1,KCNQ1-AS1c.1557C>A (p.Ile519=)
c.1914C>A (p.Ile638=)
c.1533C>A (p.Ile511=)
c.318C>A (p.Ile106=)
n.421C>A
n.778-7444G>T
 gnomAD v4
11g.2847886C>GCA379140419KCNQ1,KCNQ1-AS1c.1557C>G (p.Ile519Met)
c.1914C>G (p.Ile638Met)
c.1533C>G (p.Ile511Met)
c.318C>G (p.Ile106Met)
n.421C>G
n.778-7444G>C
11g.2847886C>TCA472466705KCNQ1,KCNQ1-AS1c.1557C>T (p.Ile519=)
c.1914C>T (p.Ile638=)
c.1533C>T (p.Ile511=)
c.318C>T (p.Ile106=)
n.421C>T
n.778-7444G>A
 gnomAD v4
11g.2847887A=CA1948349661KCNQ1,KCNQ1-AS1c.1558A= (p.Thr520=)
c.1915A= (p.Thr639=)
c.1534A= (p.Thr512=)
c.319A= (p.Thr107=)
n.422A=
n.778-7445T=
11g.2847887A>CCA379140422KCNQ1,KCNQ1-AS1c.1558A>C (p.Thr520Pro)
c.1915A>C (p.Thr639Pro)
c.1534A>C (p.Thr512Pro)
c.319A>C (p.Thr107Pro)
n.422A>C
n.778-7445T>G
 dbSNP gnomAD v4
11g.2847887A>GCA379140421KCNQ1,KCNQ1-AS1c.1558A>G (p.Thr520Ala)
c.1915A>G (p.Thr639Ala)
c.1534A>G (p.Thr512Ala)
c.319A>G (p.Thr107Ala)
n.422A>G
n.778-7445T>C
11g.2847887A>TCA379140420KCNQ1,KCNQ1-AS1c.1558A>T (p.Thr520Ser)
c.1915A>T (p.Thr639Ser)
c.1534A>T (p.Thr512Ser)
c.319A>T (p.Thr107Ser)
n.422A>T
n.778-7445T>A
11g.2847888C>ACA379140423KCNQ1,KCNQ1-AS1c.1559C>A (p.Thr520Asn)
c.1916C>A (p.Thr639Asn)
c.1535C>A (p.Thr512Asn)
c.320C>A (p.Thr107Asn)
n.423C>A
n.778-7446G>T
 dbSNP gnomAD v2 gnomAD v4
11g.2847888C=CA1948349662KCNQ1,KCNQ1-AS1c.1559C= (p.Thr520=)
c.1916C= (p.Thr639=)
c.1535C= (p.Thr512=)
c.320C= (p.Thr107=)
n.423C=
n.778-7446G=
11g.2847888C>GCA379140425KCNQ1,KCNQ1-AS1c.1559C>G (p.Thr520Ser)
c.1916C>G (p.Thr639Ser)
c.1535C>G (p.Thr512Ser)
c.320C>G (p.Thr107Ser)
n.423C>G
n.778-7446G>C
11g.2847888C>TCA379140424KCNQ1,KCNQ1-AS1c.1559C>T (p.Thr520Ile)
c.1916C>T (p.Thr639Ile)
c.1535C>T (p.Thr512Ile)
c.320C>T (p.Thr107Ile)
n.423C>T
n.778-7446G>A
 ClinVar gnomAD v4
11g.2847889C>ACA216345281KCNQ1,KCNQ1-AS1c.1560C>A (p.Thr520=)
c.1917C>A (p.Thr639=)
c.1536C>A (p.Thr512=)
c.321C>A (p.Thr107=)
n.424C>A
n.778-7447G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847889C=CA1948349663KCNQ1,KCNQ1-AS1c.1560C= (p.Thr520=)
c.1917C= (p.Thr639=)
c.1536C= (p.Thr512=)
c.321C= (p.Thr107=)
n.424C=
n.778-7447G=
11g.2847889C>GCA472466729KCNQ1,KCNQ1-AS1c.1560C>G (p.Thr520=)
c.1917C>G (p.Thr639=)
c.1536C>G (p.Thr512=)
c.321C>G (p.Thr107=)
n.424C>G
n.778-7447G>C
11g.2847889C>TCA472466731KCNQ1,KCNQ1-AS1c.1560C>T (p.Thr520=)
c.1917C>T (p.Thr639=)
c.1536C>T (p.Thr512=)
c.321C>T (p.Thr107=)
n.424C>T
n.778-7447G>A
 gnomAD v4
11g.2847890C>ACA379140426KCNQ1,KCNQ1-AS1c.1561C>A (p.Gln521Lys)
c.1918C>A (p.Gln640Lys)
c.1537C>A (p.Gln513Lys)
c.322C>A (p.Gln108Lys)
n.425C>A
n.778-7448G>T
 gnomAD v4
11g.2847890C=CA1948349664KCNQ1,KCNQ1-AS1c.1561C= (p.Gln521=)
c.1918C= (p.Gln640=)
c.1537C= (p.Gln513=)
c.322C= (p.Gln108=)
n.425C=
n.778-7448G=
11g.2847890C>GCA379140427KCNQ1,KCNQ1-AS1c.1561C>G (p.Gln521Glu)
c.1918C>G (p.Gln640Glu)
c.1537C>G (p.Gln513Glu)
c.322C>G (p.Gln108Glu)
n.425C>G
n.778-7448G>C
11g.2847890C>TCA379140428KCNQ1,KCNQ1-AS1c.1561C>T (p.Gln521Ter)
c.1918C>T (p.Gln640Ter)
c.1537C>T (p.Gln513Ter)
c.322C>T (p.Gln108Ter)
n.425C>T
n.778-7448G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847891A=CA1948349665KCNQ1,KCNQ1-AS1c.1562A= (p.Gln521=)
c.1919A= (p.Gln640=)
c.1538A= (p.Gln513=)
c.323A= (p.Gln108=)
n.426A=
n.778-7449T=
11g.2847891A>CCA379140429KCNQ1,KCNQ1-AS1c.1562A>C (p.Gln521Pro)
c.1919A>C (p.Gln640Pro)
c.1538A>C (p.Gln513Pro)
c.323A>C (p.Gln108Pro)
n.426A>C
n.778-7449T>G
11g.2847891A>GCA379140430KCNQ1,KCNQ1-AS1c.1562A>G (p.Gln521Arg)
c.1919A>G (p.Gln640Arg)
c.1538A>G (p.Gln513Arg)
c.323A>G (p.Gln108Arg)
n.426A>G
n.778-7449T>C
 gnomAD v4
11g.2847891A>TCA379140431KCNQ1,KCNQ1-AS1c.1562A>T (p.Gln521Leu)
c.1919A>T (p.Gln640Leu)
c.1538A>T (p.Gln513Leu)
c.323A>T (p.Gln108Leu)
n.426A>T
n.778-7449T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847892G>ACA472466743KCNQ1,KCNQ1-AS1c.1563G>A (p.Gln521=)
c.1920G>A (p.Gln640=)
c.1539G>A (p.Gln513=)
c.324G>A (p.Gln108=)
n.427G>A
n.778-7450C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2847892G>CCA379140432KCNQ1,KCNQ1-AS1c.1563G>C (p.Gln521His)
c.1920G>C (p.Gln640His)
c.1539G>C (p.Gln513His)
c.324G>C (p.Gln108His)
n.427G>C
n.778-7450C>G
11g.2847892G=CA1948349666KCNQ1,KCNQ1-AS1c.1563G= (p.Gln521=)
c.1920G= (p.Gln640=)
c.1539G= (p.Gln513=)
c.324G= (p.Gln108=)
n.427G=
n.778-7450C=
11g.2847892G>TCA379140433KCNQ1,KCNQ1-AS1c.1563G>T (p.Gln521His)
c.1920G>T (p.Gln640His)
c.1539G>T (p.Gln513His)
c.324G>T (p.Gln108His)
n.427G>T
n.778-7450C>A
 gnomAD v4
11g.2847892_2847893delinsGCCA1948349667KCNQ1,KCNQ1-AS1c.1563_1564delinsGC (p.Gln521=)
c.1920_1921delinsGC (p.Gln640=)
c.1539_1540delinsGC (p.Gln513=)
c.324_325delinsGC (p.Gln108=)
n.427_428delinsGC
n.778-7451_778-7450delinsGC
11g.2847893C>ACA379140434KCNQ1,KCNQ1-AS1c.1564C>A (p.Pro522Thr)
c.1921C>A (p.Pro641Thr)
c.1540C>A (p.Pro514Thr)
c.325C>A (p.Pro109Thr)
n.428C>A
n.778-7451G>T
 gnomAD v4
11g.2847893C=CA1948349668KCNQ1,KCNQ1-AS1c.1564C= (p.Pro522=)
c.1921C= (p.Pro641=)
c.1540C= (p.Pro514=)
c.325C= (p.Pro109=)
n.428C=
n.778-7451G=
11g.2847893C>GCA379140435KCNQ1,KCNQ1-AS1c.1564C>G (p.Pro522Ala)
c.1921C>G (p.Pro641Ala)
c.1540C>G (p.Pro514Ala)
c.325C>G (p.Pro109Ala)
n.428C>G
n.778-7451G>C
11g.2847893C>TCA379140436KCNQ1,KCNQ1-AS1c.1564C>T (p.Pro522Ser)
c.1921C>T (p.Pro641Ser)
c.1540C>T (p.Pro514Ser)
c.325C>T (p.Pro109Ser)
n.428C>T
n.778-7451G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847895delCA913187660KCNQ1,KCNQ1-AS1c.1566del (p.Cys523AlafsTer24)
c.1923del (p.Cys642AlafsTer24)
c.1542del (p.Cys515AlafsTer24)
c.327del (p.Cys110AlafsTer24)
n.430del
n.778-7451del
 ClinVar dbSNP
11g.2847894C>ACA379140438KCNQ1,KCNQ1-AS1c.1565C>A (p.Pro522His)
c.1922C>A (p.Pro641His)
c.1541C>A (p.Pro514His)
c.326C>A (p.Pro109His)
n.429C>A
n.778-7452G>T
 gnomAD v4
11g.2847894C=CA1948349669KCNQ1,KCNQ1-AS1c.1565C= (p.Pro522=)
c.1922C= (p.Pro641=)
c.1541C= (p.Pro514=)
c.326C= (p.Pro109=)
n.429C=
n.778-7452G=
11g.2847894C>GCA379140437KCNQ1,KCNQ1-AS1c.1565C>G (p.Pro522Arg)
c.1922C>G (p.Pro641Arg)
c.1541C>G (p.Pro514Arg)
c.326C>G (p.Pro109Arg)
n.429C>G
n.778-7452G>C
11g.2847894C>TCA033707KCNQ1,KCNQ1-AS1c.1565C>T (p.Pro522Leu)
c.1922C>T (p.Pro641Leu)
c.1541C>T (p.Pro514Leu)
c.326C>T (p.Pro109Leu)
n.429C>T
n.778-7452G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847895C>ACA472466756KCNQ1,KCNQ1-AS1c.1566C>A (p.Pro522=)
c.1923C>A (p.Pro641=)
c.1542C>A (p.Pro514=)
c.327C>A (p.Pro109=)
n.430C>A
n.778-7453G>T
 gnomAD v4
11g.2847895C=CA1948349670KCNQ1,KCNQ1-AS1c.1566C= (p.Pro522=)
c.1923C= (p.Pro641=)
c.1542C= (p.Pro514=)
c.327C= (p.Pro109=)
n.430C=
n.778-7453G=
11g.2847895C>GCA472466757KCNQ1,KCNQ1-AS1c.1566C>G (p.Pro522=)
c.1923C>G (p.Pro641=)
c.1542C>G (p.Pro514=)
c.327C>G (p.Pro109=)
n.430C>G
n.778-7453G>C
11g.2847895C>TCA472466758KCNQ1,KCNQ1-AS1c.1566C>T (p.Pro522=)
c.1923C>T (p.Pro641=)
c.1542C>T (p.Pro514=)
c.327C>T (p.Pro109=)
n.430C>T
n.778-7453G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2847896T>ACA379140439KCNQ1,KCNQ1-AS1c.1567T>A (p.Cys523Ser)
c.1924T>A (p.Cys642Ser)
c.1543T>A (p.Cys515Ser)
c.328T>A (p.Cys110Ser)
n.431T>A
n.778-7454A>T
 gnomAD v4
11g.2847896T>CCA379140440KCNQ1,KCNQ1-AS1c.1567T>C (p.Cys523Arg)
c.1924T>C (p.Cys642Arg)
c.1543T>C (p.Cys515Arg)
c.328T>C (p.Cys110Arg)
n.431T>C
n.778-7454A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847896T>GCA379140441KCNQ1,KCNQ1-AS1c.1567T>G (p.Cys523Gly)
c.1924T>G (p.Cys642Gly)
c.1543T>G (p.Cys515Gly)
c.328T>G (p.Cys110Gly)
n.431T>G
n.778-7454A>C
11g.2847896T=CA1948349671KCNQ1,KCNQ1-AS1c.1567T= (p.Cys523=)
c.1924T= (p.Cys642=)
c.1543T= (p.Cys515=)
c.328T= (p.Cys110=)
n.431T=
n.778-7454A=
11g.2847897G>ACA379140442KCNQ1,KCNQ1-AS1c.1568G>A (p.Cys523Tyr)
c.1925G>A (p.Cys642Tyr)
c.1544G>A (p.Cys515Tyr)
c.329G>A (p.Cys110Tyr)
n.432G>A
n.778-7455C>T
 gnomAD v4
11g.2847897G>CCA379140443KCNQ1,KCNQ1-AS1c.1568G>C (p.Cys523Ser)
c.1925G>C (p.Cys642Ser)
c.1544G>C (p.Cys515Ser)
c.329G>C (p.Cys110Ser)
n.432G>C
n.778-7455C>G
11g.2847897G=CA1948349672KCNQ1,KCNQ1-AS1c.1568G= (p.Cys523=)
c.1925G= (p.Cys642=)
c.1544G= (p.Cys515=)
c.329G= (p.Cys110=)
n.432G=
n.778-7455C=
11g.2847897G>TCA379140444KCNQ1,KCNQ1-AS1c.1568G>T (p.Cys523Phe)
c.1925G>T (p.Cys642Phe)
c.1544G>T (p.Cys515Phe)
c.329G>T (p.Cys110Phe)
n.432G>T
n.778-7455C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847899_2847901delCA2790204584KCNQ1,KCNQ1-AS1c.1570_1572del (p.Gly524del)
c.1927_1929del (p.Gly643del)
c.1546_1548del (p.Gly516del)
c.331_333del (p.Gly111del)
n.434_436del
n.778-7457_778-7455del
11g.2847898C>ACA379140445KCNQ1,KCNQ1-AS1c.1569C>A (p.Cys523Ter)
c.1926C>A (p.Cys642Ter)
c.1545C>A (p.Cys515Ter)
c.330C>A (p.Cys110Ter)
n.433C>A
n.778-7456G>T
 ClinVar dbSNP gnomAD v4
11g.2847898C=CA1948349673KCNQ1,KCNQ1-AS1c.1569C= (p.Cys523=)
c.1926C= (p.Cys642=)
c.1545C= (p.Cys515=)
c.330C= (p.Cys110=)
n.433C=
n.778-7456G=
11g.2847898C>GCA10576880KCNQ1,KCNQ1-AS1c.1569C>G (p.Cys523Trp)
c.1926C>G (p.Cys642Trp)
c.1545C>G (p.Cys515Trp)
c.330C>G (p.Cys110Trp)
n.433C>G
n.778-7456G>C
 ClinVar dbSNP
11g.2847898C>TCA033727KCNQ1,KCNQ1-AS1c.1569C>T (p.Cys523=)
c.1926C>T (p.Cys642=)
c.1545C>T (p.Cys515=)
c.330C>T (p.Cys110=)
n.433C>T
n.778-7456G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847899G>ACA006598KCNQ1,KCNQ1-AS1c.1570G>A (p.Gly524Ser)
c.1927G>A (p.Gly643Ser)
c.1546G>A (p.Gly516Ser)
c.331G>A (p.Gly111Ser)
n.434G>A
n.778-7457C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847899G>CCA379140446KCNQ1,KCNQ1-AS1c.1570G>C (p.Gly524Arg)
c.1927G>C (p.Gly643Arg)
c.1546G>C (p.Gly516Arg)
c.331G>C (p.Gly111Arg)
n.434G>C
n.778-7457C>G
 gnomAD v4
11g.2847899G=CA1948349674KCNQ1,KCNQ1-AS1c.1570G= (p.Gly524=)
c.1927G= (p.Gly643=)
c.1546G= (p.Gly516=)
c.331G= (p.Gly111=)
n.434G=
n.778-7457C=
11g.2847899G>TCA379140447KCNQ1,KCNQ1-AS1c.1570G>T (p.Gly524Cys)
c.1927G>T (p.Gly643Cys)
c.1546G>T (p.Gly516Cys)
c.331G>T (p.Gly111Cys)
n.434G>T
n.778-7457C>A
 dbSNP gnomAD v4
11g.2847900G>ACA379140450KCNQ1,KCNQ1-AS1c.1571G>A (p.Gly524Asp)
c.1928G>A (p.Gly643Asp)
c.1547G>A (p.Gly516Asp)
c.332G>A (p.Gly111Asp)
n.435G>A
n.778-7458C>T
 ClinVar dbSNP gnomAD v4
11g.2847900G>CCA379140449KCNQ1,KCNQ1-AS1c.1571G>C (p.Gly524Ala)
c.1928G>C (p.Gly643Ala)
c.1547G>C (p.Gly516Ala)
c.332G>C (p.Gly111Ala)
n.435G>C
n.778-7458C>G
 gnomAD v4
11g.2847900G=CA1948349675KCNQ1,KCNQ1-AS1c.1571G= (p.Gly524=)
c.1928G= (p.Gly643=)
c.1547G= (p.Gly516=)
c.332G= (p.Gly111=)
n.435G=
n.778-7458C=
11g.2847900G>TCA379140448KCNQ1,KCNQ1-AS1c.1571G>T (p.Gly524Val)
c.1928G>T (p.Gly643Val)
c.1547G>T (p.Gly516Val)
c.332G>T (p.Gly111Val)
n.435G>T
n.778-7458C>A
 gnomAD v4
11g.2847901C>ACA472466781KCNQ1,KCNQ1-AS1c.1572C>A (p.Gly524=)
c.1929C>A (p.Gly643=)
c.1548C>A (p.Gly516=)
c.333C>A (p.Gly111=)
n.436C>A
n.778-7459G>T
 gnomAD v4
11g.2847901C>GCA472466790KCNQ1,KCNQ1-AS1c.1572C>G (p.Gly524=)
c.1929C>G (p.Gly643=)
c.1548C>G (p.Gly516=)
c.333C>G (p.Gly111=)
n.436C>G
n.778-7459G>C
 gnomAD v4
11g.2847901C>TCA472466785KCNQ1,KCNQ1-AS1c.1572C>T (p.Gly524=)
c.1929C>T (p.Gly643=)
c.1548C>T (p.Gly516=)
c.333C>T (p.Gly111=)
n.436C>T
n.778-7459G>A
 gnomAD v4
11g.2847902A>CCA379140453KCNQ1,KCNQ1-AS1c.1573A>C (p.Ser525Arg)
c.1930A>C (p.Ser644Arg)
c.1549A>C (p.Ser517Arg)
c.334A>C (p.Ser112Arg)
n.437A>C
n.778-7460T>G
11g.2847902A>GCA379140451KCNQ1,KCNQ1-AS1c.1573A>G (p.Ser525Gly)
c.1930A>G (p.Ser644Gly)
c.1549A>G (p.Ser517Gly)
c.334A>G (p.Ser112Gly)
n.437A>G
n.778-7460T>C
 gnomAD v4
11g.2847902A>TCA379140452KCNQ1,KCNQ1-AS1c.1573A>T (p.Ser525Cys)
c.1930A>T (p.Ser644Cys)
c.1549A>T (p.Ser517Cys)
c.334A>T (p.Ser112Cys)
n.437A>T
n.778-7460T>A
11g.2847903G>ACA379140454KCNQ1,KCNQ1-AS1c.1574G>A (p.Ser525Asn)
c.1931G>A (p.Ser644Asn)
c.1550G>A (p.Ser517Asn)
c.335G>A (p.Ser112Asn)
n.438G>A
n.778-7461C>T
 gnomAD v4
11g.2847903G>CCA379140455KCNQ1,KCNQ1-AS1c.1574G>C (p.Ser525Thr)
c.1931G>C (p.Ser644Thr)
c.1550G>C (p.Ser517Thr)
c.335G>C (p.Ser112Thr)
n.438G>C
n.778-7461C>G
11g.2847903G>TCA379140456KCNQ1,KCNQ1-AS1c.1574G>T (p.Ser525Ile)
c.1931G>T (p.Ser644Ile)
c.1550G>T (p.Ser517Ile)
c.335G>T (p.Ser112Ile)
n.438G>T
n.778-7461C>A
 gnomAD v4
11g.2847904T>ACA379140457KCNQ1,KCNQ1-AS1c.1575T>A (p.Ser525Arg)
c.1932T>A (p.Ser644Arg)
c.1551T>A (p.Ser517Arg)
c.336T>A (p.Ser112Arg)
n.439T>A
n.778-7462A>T
11g.2847904T>CCA472466805KCNQ1,KCNQ1-AS1c.1575T>C (p.Ser525=)
c.1932T>C (p.Ser644=)
c.1551T>C (p.Ser517=)
c.336T>C (p.Ser112=)
n.439T>C
n.778-7462A>G
11g.2847904T>GCA379140458KCNQ1,KCNQ1-AS1c.1575T>G (p.Ser525Arg)
c.1932T>G (p.Ser644Arg)
c.1551T>G (p.Ser517Arg)
c.336T>G (p.Ser112Arg)
n.439T>G
n.778-7462A>C
11g.2847905G>ACA379140459KCNQ1,KCNQ1-AS1c.1576G>A (p.Gly526Ser)
c.1933G>A (p.Gly645Ser)
c.1552G>A (p.Gly518Ser)
c.337G>A (p.Gly113Ser)
n.440G>A
n.778-7463C>T
11g.2847905G>CCA379140461KCNQ1,KCNQ1-AS1c.1576G>C (p.Gly526Arg)
c.1933G>C (p.Gly645Arg)
c.1552G>C (p.Gly518Arg)
c.337G>C (p.Gly113Arg)
n.440G>C
n.778-7463C>G
11g.2847905G>TCA379140460KCNQ1,KCNQ1-AS1c.1576G>T (p.Gly526Cys)
c.1933G>T (p.Gly645Cys)
c.1552G>T (p.Gly518Cys)
c.337G>T (p.Gly113Cys)
n.440G>T
n.778-7463C>A
 gnomAD v4
11g.2847906G>ACA379140462KCNQ1,KCNQ1-AS1c.1577G>A (p.Gly526Asp)
c.1934G>A (p.Gly645Asp)
c.1553G>A (p.Gly518Asp)
c.338G>A (p.Gly113Asp)
n.441G>A
n.778-7464C>T
 gnomAD v4
11g.2847906G>CCA379140463KCNQ1,KCNQ1-AS1c.1577G>C (p.Gly526Ala)
c.1934G>C (p.Gly645Ala)
c.1553G>C (p.Gly518Ala)
c.338G>C (p.Gly113Ala)
n.441G>C
n.778-7464C>G
11g.2847906G>TCA379140464KCNQ1,KCNQ1-AS1c.1577G>T (p.Gly526Val)
c.1934G>T (p.Gly645Val)
c.1553G>T (p.Gly518Val)
c.338G>T (p.Gly113Val)
n.441G>T
n.778-7464C>A
 gnomAD v4
11g.2847907C>ACA472466814KCNQ1,KCNQ1-AS1c.1578C>A (p.Gly526=)
c.1935C>A (p.Gly645=)
c.1554C>A (p.Gly518=)
c.339C>A (p.Gly113=)
n.442C>A
n.778-7465G>T
 gnomAD v4
11g.2847907C=CA1948349676KCNQ1,KCNQ1-AS1c.1578C= (p.Gly526=)
c.1935C= (p.Gly645=)
c.1554C= (p.Gly518=)
c.339C= (p.Gly113=)
n.442C=
n.778-7465G=
11g.2847907C>GCA472466816KCNQ1,KCNQ1-AS1c.1578C>G (p.Gly526=)
c.1935C>G (p.Gly645=)
c.1554C>G (p.Gly518=)
c.339C>G (p.Gly113=)
n.442C>G
n.778-7465G>C
11g.2847907C>TCA033774KCNQ1,KCNQ1-AS1c.1578C>T (p.Gly526=)
c.1935C>T (p.Gly645=)
c.1554C>T (p.Gly518=)
c.339C>T (p.Gly113=)
n.442C>T
n.778-7465G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847908G>ACA033794KCNQ1,KCNQ1-AS1c.1579G>A (p.Gly527Ser)
c.1936G>A (p.Gly646Ser)
c.1555G>A (p.Gly519Ser)
c.340G>A (p.Gly114Ser)
n.443G>A
n.778-7466C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847908G>CCA379140466KCNQ1,KCNQ1-AS1c.1579G>C (p.Gly527Arg)
c.1936G>C (p.Gly646Arg)
c.1555G>C (p.Gly519Arg)
c.340G>C (p.Gly114Arg)
n.443G>C
n.778-7466C>G
11g.2847908G=CA1948349677KCNQ1,KCNQ1-AS1c.1579G= (p.Gly527=)
c.1936G= (p.Gly646=)
c.1555G= (p.Gly519=)
c.340G= (p.Gly114=)
n.443G=
n.778-7466C=
11g.2847908G>TCA379140465KCNQ1,KCNQ1-AS1c.1579G>T (p.Gly527Cys)
c.1936G>T (p.Gly646Cys)
c.1555G>T (p.Gly519Cys)
c.340G>T (p.Gly114Cys)
n.443G>T
n.778-7466C>A
 ClinVar dbSNP gnomAD v4
11g.2847909G>ACA379140467KCNQ1,KCNQ1-AS1c.1580G>A (p.Gly527Asp)
c.1937G>A (p.Gly646Asp)
c.1556G>A (p.Gly519Asp)
c.341G>A (p.Gly114Asp)
n.444G>A
n.778-7467C>T
 gnomAD v4
11g.2847909G>CCA379140468KCNQ1,KCNQ1-AS1c.1580G>C (p.Gly527Ala)
c.1937G>C (p.Gly646Ala)
c.1556G>C (p.Gly519Ala)
c.341G>C (p.Gly114Ala)
n.444G>C
n.778-7467C>G
11g.2847909G>TCA379140469KCNQ1,KCNQ1-AS1c.1580G>T (p.Gly527Val)
c.1937G>T (p.Gly646Val)
c.1556G>T (p.Gly519Val)
c.341G>T (p.Gly114Val)
n.444G>T
n.778-7467C>A
 gnomAD v4
11g.2847910C>ACA216345321KCNQ1,KCNQ1-AS1c.1581C>A (p.Gly527=)
c.1938C>A (p.Gly646=)
c.1557C>A (p.Gly519=)
c.342C>A (p.Gly114=)
n.445C>A
n.778-7468G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847910C=CA1948349678KCNQ1,KCNQ1-AS1c.1581C= (p.Gly527=)
c.1938C= (p.Gly646=)
c.1557C= (p.Gly519=)
c.342C= (p.Gly114=)
n.445C=
n.778-7468G=
11g.2847910C>GCA472466825KCNQ1,KCNQ1-AS1c.1581C>G (p.Gly527=)
c.1938C>G (p.Gly646=)
c.1557C>G (p.Gly519=)
c.342C>G (p.Gly114=)
n.445C>G
n.778-7468G>C
 dbSNP
11g.2847910C>TCA033811KCNQ1,KCNQ1-AS1c.1581C>T (p.Gly527=)
c.1938C>T (p.Gly646=)
c.1557C>T (p.Gly519=)
c.342C>T (p.Gly114=)
n.445C>T
n.778-7468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847911T>ACA379140470KCNQ1,KCNQ1-AS1c.1582T>A (p.Ser528Thr)
c.1939T>A (p.Ser647Thr)
c.1558T>A (p.Ser520Thr)
c.343T>A (p.Ser115Thr)
n.446T>A
n.778-7469A>T
11g.2847911T>CCA379140471KCNQ1,KCNQ1-AS1c.1582T>C (p.Ser528Pro)
c.1939T>C (p.Ser647Pro)
c.1558T>C (p.Ser520Pro)
c.343T>C (p.Ser115Pro)
n.446T>C
n.778-7469A>G
 gnomAD v4
11g.2847911T>GCA379140472KCNQ1,KCNQ1-AS1c.1582T>G (p.Ser528Ala)
c.1939T>G (p.Ser647Ala)
c.1558T>G (p.Ser520Ala)
c.343T>G (p.Ser115Ala)
n.446T>G
n.778-7469A>C
11g.2847912C>ACA379140473KCNQ1,KCNQ1-AS1c.1583C>A (p.Ser528Tyr)
c.1940C>A (p.Ser647Tyr)
c.1559C>A (p.Ser520Tyr)
c.344C>A (p.Ser115Tyr)
n.447C>A
n.778-7470G>T
 gnomAD v4
11g.2847912C>GCA379140474KCNQ1,KCNQ1-AS1c.1583C>G (p.Ser528Cys)
c.1940C>G (p.Ser647Cys)
c.1559C>G (p.Ser520Cys)
c.344C>G (p.Ser115Cys)
n.447C>G
n.778-7470G>C
11g.2847912C>TCA379140475KCNQ1,KCNQ1-AS1c.1583C>T (p.Ser528Phe)
c.1940C>T (p.Ser647Phe)
c.1559C>T (p.Ser520Phe)
c.344C>T (p.Ser115Phe)
n.447C>T
n.778-7470G>A
 gnomAD v4
11g.2847913C>ACA472466835KCNQ1,KCNQ1-AS1c.1584C>A (p.Ser528=)
c.1941C>A (p.Ser647=)
c.1560C>A (p.Ser520=)
c.345C>A (p.Ser115=)
n.448C>A
n.778-7471G>T
11g.2847913C=CA1948349679KCNQ1,KCNQ1-AS1c.1584C= (p.Ser528=)
c.1941C= (p.Ser647=)
c.1560C= (p.Ser520=)
c.345C= (p.Ser115=)
n.448C=
n.778-7471G=
11g.2847913C>GCA472466839KCNQ1,KCNQ1-AS1c.1584C>G (p.Ser528=)
c.1941C>G (p.Ser647=)
c.1560C>G (p.Ser520=)
c.345C>G (p.Ser115=)
n.448C>G
n.778-7471G>C
11g.2847913C>TCA472466837KCNQ1,KCNQ1-AS1c.1584C>T (p.Ser528=)
c.1941C>T (p.Ser647=)
c.1560C>T (p.Ser520=)
c.345C>T (p.Ser115=)
n.448C>T
n.778-7471G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847915_2847917delCA2790204600KCNQ1,KCNQ1-AS1c.1586_1588del (p.Val529del)
c.1943_1945del (p.Val648del)
c.1562_1564del (p.Val521del)
c.347_349del (p.Val116del)
n.450_452del
n.778-7473_778-7471del
11g.2847914G>ACA006603KCNQ1,KCNQ1-AS1c.1585G>A (p.Val529Ile)
c.1942G>A (p.Val648Ile)
c.1561G>A (p.Val521Ile)
c.346G>A (p.Val116Ile)
n.449G>A
n.778-7472C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847914G>CCA379140477KCNQ1,KCNQ1-AS1c.1585G>C (p.Val529Leu)
c.1942G>C (p.Val648Leu)
c.1561G>C (p.Val521Leu)
c.346G>C (p.Val116Leu)
n.449G>C
n.778-7472C>G
 ClinVar dbSNP
11g.2847914G=CA1948349680KCNQ1,KCNQ1-AS1c.1585G= (p.Val529=)
c.1942G= (p.Val648=)
c.1561G= (p.Val521=)
c.346G= (p.Val116=)
n.449G=
n.778-7472C=
11g.2847914G>TCA379140476KCNQ1,KCNQ1-AS1c.1585G>T (p.Val529Phe)
c.1942G>T (p.Val648Phe)
c.1561G>T (p.Val521Phe)
c.346G>T (p.Val116Phe)
n.449G>T
n.778-7472C>A
 gnomAD v4
11g.2847915T>ACA379140478KCNQ1,KCNQ1-AS1c.1586T>A (p.Val529Asp)
c.1943T>A (p.Val648Asp)
c.1562T>A (p.Val521Asp)
c.347T>A (p.Val116Asp)
n.450T>A
n.778-7473A>T
11g.2847915T>CCA379140479KCNQ1,KCNQ1-AS1c.1586T>C (p.Val529Ala)
c.1943T>C (p.Val648Ala)
c.1562T>C (p.Val521Ala)
c.347T>C (p.Val116Ala)
n.450T>C
n.778-7473A>G
11g.2847915T>GCA379140480KCNQ1,KCNQ1-AS1c.1586T>G (p.Val529Gly)
c.1943T>G (p.Val648Gly)
c.1562T>G (p.Val521Gly)
c.347T>G (p.Val116Gly)
n.450T>G
n.778-7473A>C
11g.2847916C>ACA472466851KCNQ1,KCNQ1-AS1c.1587C>A (p.Val529=)
c.1944C>A (p.Val648=)
c.1563C>A (p.Val521=)
c.348C>A (p.Val116=)
n.451C>A
n.778-7474G>T
 gnomAD v4
11g.2847916C=CA1948349681KCNQ1,KCNQ1-AS1c.1587C= (p.Val529=)
c.1944C= (p.Val648=)
c.1563C= (p.Val521=)
c.348C= (p.Val116=)
n.451C=
n.778-7474G=
11g.2847916C>GCA472466854KCNQ1,KCNQ1-AS1c.1587C>G (p.Val529=)
c.1944C>G (p.Val648=)
c.1563C>G (p.Val521=)
c.348C>G (p.Val116=)
n.451C>G
n.778-7474G>C
 ClinVar gnomAD v4
11g.2847916C>TCA006611KCNQ1,KCNQ1-AS1c.1587C>T (p.Val529=)
c.1944C>T (p.Val648=)
c.1563C>T (p.Val521=)
c.348C>T (p.Val116=)
n.451C>T
n.778-7474G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847917G>ACA033865KCNQ1,KCNQ1-AS1c.1588G>A (p.Asp530Asn)
c.1945G>A (p.Asp649Asn)
c.1564G>A (p.Asp522Asn)
c.349G>A (p.Asp117Asn)
n.452G>A
n.778-7475C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847917G>CCA379140481KCNQ1,KCNQ1-AS1c.1588G>C (p.Asp530His)
c.1945G>C (p.Asp649His)
c.1564G>C (p.Asp522His)
c.349G>C (p.Asp117His)
n.452G>C
n.778-7475C>G
11g.2847917G=CA1948349682KCNQ1,KCNQ1-AS1c.1588G= (p.Asp530=)
c.1945G= (p.Asp649=)
c.1564G= (p.Asp522=)
c.349G= (p.Asp117=)
n.452G=
n.778-7475C=
11g.2847917G>TCA379140482KCNQ1,KCNQ1-AS1c.1588G>T (p.Asp530Tyr)
c.1945G>T (p.Asp649Tyr)
c.1564G>T (p.Asp522Tyr)
c.349G>T (p.Asp117Tyr)
n.452G>T
n.778-7475C>A
 gnomAD v4
11g.2847918A=CA1948349683KCNQ1,KCNQ1-AS1c.1589A= (p.Asp530=)
c.1946A= (p.Asp649=)
c.1565A= (p.Asp522=)
c.350A= (p.Asp117=)
n.453A=
n.778-7476T=
11g.2847918A>CCA379140484KCNQ1,KCNQ1-AS1c.1589A>C (p.Asp530Ala)
c.1946A>C (p.Asp649Ala)
c.1565A>C (p.Asp522Ala)
c.350A>C (p.Asp117Ala)
n.453A>C
n.778-7476T>G
11g.2847918A>GCA033886KCNQ1,KCNQ1-AS1c.1589A>G (p.Asp530Gly)
c.1946A>G (p.Asp649Gly)
c.1565A>G (p.Asp522Gly)
c.350A>G (p.Asp117Gly)
n.453A>G
n.778-7476T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847918A>TCA379140483KCNQ1,KCNQ1-AS1c.1589A>T (p.Asp530Val)
c.1946A>T (p.Asp649Val)
c.1565A>T (p.Asp522Val)
c.350A>T (p.Asp117Val)
n.453A>T
n.778-7476T>A
11g.2847919C>ACA379140485KCNQ1,KCNQ1-AS1c.1590C>A (p.Asp530Glu)
c.1947C>A (p.Asp649Glu)
c.1566C>A (p.Asp522Glu)
c.351C>A (p.Asp117Glu)
n.454C>A
n.778-7477G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847919C=CA1948349684KCNQ1,KCNQ1-AS1c.1590C= (p.Asp530=)
c.1947C= (p.Asp649=)
c.1566C= (p.Asp522=)
c.351C= (p.Asp117=)
n.454C=
n.778-7477G=
11g.2847919C>GCA379140486KCNQ1,KCNQ1-AS1c.1590C>G (p.Asp530Glu)
c.1947C>G (p.Asp649Glu)
c.1566C>G (p.Asp522Glu)
c.351C>G (p.Asp117Glu)
n.454C>G
n.778-7477G>C
11g.2847919C>TCA472466864KCNQ1,KCNQ1-AS1c.1590C>T (p.Asp530=)
c.1947C>T (p.Asp649=)
c.1566C>T (p.Asp522=)
c.351C>T (p.Asp117=)
n.454C>T
n.778-7477G>A
 gnomAD v4
11g.2847921delCA2573145946KCNQ1,KCNQ1-AS1c.1592del (p.Pro531LeufsTer16)
c.1949del (p.Pro650LeufsTer16)
c.1568del (p.Pro523LeufsTer16)
c.353del (p.Pro118LeufsTer16)
n.456del
n.778-7477del
 ClinVar dbSNP
11g.2847920C>ACA379140487KCNQ1,KCNQ1-AS1c.1591C>A (p.Pro531Thr)
c.1948C>A (p.Pro650Thr)
c.1567C>A (p.Pro523Thr)
c.352C>A (p.Pro118Thr)
n.455C>A
n.778-7478G>T
 gnomAD v4
11g.2847920C>GCA379140488KCNQ1,KCNQ1-AS1c.1591C>G (p.Pro531Ala)
c.1948C>G (p.Pro650Ala)
c.1567C>G (p.Pro523Ala)
c.352C>G (p.Pro118Ala)
n.455C>G
n.778-7478G>C
 gnomAD v4
11g.2847920C>TCA379140489KCNQ1,KCNQ1-AS1c.1591C>T (p.Pro531Ser)
c.1948C>T (p.Pro650Ser)
c.1567C>T (p.Pro523Ser)
c.352C>T (p.Pro118Ser)
n.455C>T
n.778-7478G>A
11g.2847921C>ACA379140490KCNQ1,KCNQ1-AS1c.1592C>A (p.Pro531His)
c.1949C>A (p.Pro650His)
c.1568C>A (p.Pro523His)
c.353C>A (p.Pro118His)
n.456C>A
n.778-7479G>T
 dbSNP gnomAD v4
11g.2847921C=CA1948349685KCNQ1,KCNQ1-AS1c.1592C= (p.Pro531=)
c.1949C= (p.Pro650=)
c.1568C= (p.Pro523=)
c.353C= (p.Pro118=)
n.456C=
n.778-7479G=
11g.2847921C>GCA379140492KCNQ1,KCNQ1-AS1c.1592C>G (p.Pro531Arg)
c.1949C>G (p.Pro650Arg)
c.1568C>G (p.Pro523Arg)
c.353C>G (p.Pro118Arg)
n.456C>G
n.778-7479G>C
11g.2847921C>TCA379140491KCNQ1,KCNQ1-AS1c.1592C>T (p.Pro531Leu)
c.1949C>T (p.Pro650Leu)
c.1568C>T (p.Pro523Leu)
c.353C>T (p.Pro118Leu)
n.456C>T
n.778-7479G>A
 gnomAD v4
11g.2847922T>ACA472466877KCNQ1,KCNQ1-AS1c.1593T>A (p.Pro531=)
c.1950T>A (p.Pro650=)
c.1569T>A (p.Pro523=)
c.354T>A (p.Pro118=)
n.457T>A
n.778-7480A>T
 gnomAD v4
11g.2847922T>CCA472466878KCNQ1,KCNQ1-AS1c.1593T>C (p.Pro531=)
c.1950T>C (p.Pro650=)
c.1569T>C (p.Pro523=)
c.354T>C (p.Pro118=)
n.457T>C
n.778-7480A>G
 gnomAD v4
11g.2847922T>GCA472466880KCNQ1,KCNQ1-AS1c.1593T>G (p.Pro531=)
c.1950T>G (p.Pro650=)
c.1569T>G (p.Pro523=)
c.354T>G (p.Pro118=)
n.457T>G
n.778-7480A>C
 gnomAD v4
11g.2847923G>ACA379140493KCNQ1,KCNQ1-AS1c.1594G>A (p.Glu532Lys)
c.1951G>A (p.Glu651Lys)
c.1570G>A (p.Glu524Lys)
c.355G>A (p.Glu119Lys)
n.458G>A
n.778-7481C>T
 ClinVar dbSNP gnomAD v4
11g.2847923G>CCA379140494KCNQ1,KCNQ1-AS1c.1594G>C (p.Glu532Gln)
c.1951G>C (p.Glu651Gln)
c.1570G>C (p.Glu524Gln)
c.355G>C (p.Glu119Gln)
n.458G>C
n.778-7481C>G
11g.2847923G=CA1948349686KCNQ1,KCNQ1-AS1c.1594G= (p.Glu532=)
c.1951G= (p.Glu651=)
c.1570G= (p.Glu524=)
c.355G= (p.Glu119=)
n.458G=
n.778-7481C=
11g.2847923G>TCA379140495KCNQ1,KCNQ1-AS1c.1594G>T (p.Glu532Ter)
c.1951G>T (p.Glu651Ter)
c.1570G>T (p.Glu524Ter)
c.355G>T (p.Glu119Ter)
n.458G>T
n.778-7481C>A
 gnomAD v4
11g.2847924A>CCA379140496KCNQ1,KCNQ1-AS1c.1595A>C (p.Glu532Ala)
c.1952A>C (p.Glu651Ala)
c.1571A>C (p.Glu524Ala)
c.356A>C (p.Glu119Ala)
n.459A>C
n.778-7482T>G
 ClinVar
11g.2847924A>GCA379140497KCNQ1,KCNQ1-AS1c.1595A>G (p.Glu532Gly)
c.1952A>G (p.Glu651Gly)
c.1571A>G (p.Glu524Gly)
c.356A>G (p.Glu119Gly)
n.459A>G
n.778-7482T>C
 gnomAD v4
11g.2847924A>TCA379140498KCNQ1,KCNQ1-AS1c.1595A>T (p.Glu532Val)
c.1952A>T (p.Glu651Val)
c.1571A>T (p.Glu524Val)
c.356A>T (p.Glu119Val)
n.459A>T
n.778-7482T>A
11g.2847925G>ACA472466888KCNQ1,KCNQ1-AS1c.1596G>A (p.Glu532=)
c.1953G>A (p.Glu651=)
c.1572G>A (p.Glu524=)
c.357G>A (p.Glu119=)
n.460G>A
n.778-7483C>T
 gnomAD v4
11g.2847925G>CCA379140499KCNQ1,KCNQ1-AS1c.1596G>C (p.Glu532Asp)
c.1953G>C (p.Glu651Asp)
c.1572G>C (p.Glu524Asp)
c.357G>C (p.Glu119Asp)
n.460G>C
n.778-7483C>G
11g.2847925G>TCA379140500KCNQ1,KCNQ1-AS1c.1596G>T (p.Glu532Asp)
c.1953G>T (p.Glu651Asp)
c.1572G>T (p.Glu524Asp)
c.357G>T (p.Glu119Asp)
n.460G>T
n.778-7483C>A
 gnomAD v4
11g.2847926C>ACA379140501KCNQ1,KCNQ1-AS1c.1597C>A (p.Leu533Ile)
c.1954C>A (p.Leu652Ile)
c.1573C>A (p.Leu525Ile)
c.358C>A (p.Leu120Ile)
n.461C>A
n.778-7484G>T
 gnomAD v4
11g.2847926C>GCA379140502KCNQ1,KCNQ1-AS1c.1597C>G (p.Leu533Val)
c.1954C>G (p.Leu652Val)
c.1573C>G (p.Leu525Val)
c.358C>G (p.Leu120Val)
n.461C>G
n.778-7484G>C
11g.2847926C>TCA379140503KCNQ1,KCNQ1-AS1c.1597C>T (p.Leu533Phe)
c.1954C>T (p.Leu652Phe)
c.1573C>T (p.Leu525Phe)
c.358C>T (p.Leu120Phe)
n.461C>T
n.778-7484G>A
 gnomAD v4
11g.2847927T>ACA379140504KCNQ1,KCNQ1-AS1c.1598T>A (p.Leu533His)
c.1955T>A (p.Leu652His)
c.1574T>A (p.Leu525His)
c.359T>A (p.Leu120His)
n.462T>A
n.778-7485A>T
11g.2847927T>CCA379140506KCNQ1,KCNQ1-AS1c.1598T>C (p.Leu533Pro)
c.1955T>C (p.Leu652Pro)
c.1574T>C (p.Leu525Pro)
c.359T>C (p.Leu120Pro)
n.462T>C
n.778-7485A>G
11g.2847927T>GCA379140505KCNQ1,KCNQ1-AS1c.1598T>G (p.Leu533Arg)
c.1955T>G (p.Leu652Arg)
c.1574T>G (p.Leu525Arg)
c.359T>G (p.Leu120Arg)
n.462T>G
n.778-7485A>C
 gnomAD v4
11g.2847928C>ACA472466895KCNQ1,KCNQ1-AS1c.1599C>A (p.Leu533=)
c.1956C>A (p.Leu652=)
c.1575C>A (p.Leu525=)
c.360C>A (p.Leu120=)
n.463C>A
n.778-7486G>T
 gnomAD v4
11g.2847928C=CA1948349687KCNQ1,KCNQ1-AS1c.1599C= (p.Leu533=)
c.1956C= (p.Leu652=)
c.1575C= (p.Leu525=)
c.360C= (p.Leu120=)
n.463C=
n.778-7486G=
11g.2847928C>GCA472466897KCNQ1,KCNQ1-AS1c.1599C>G (p.Leu533=)
c.1956C>G (p.Leu652=)
c.1575C>G (p.Leu525=)
c.360C>G (p.Leu120=)
n.463C>G
n.778-7486G>C
11g.2847928C>TCA033945KCNQ1,KCNQ1-AS1c.1599C>T (p.Leu533=)
c.1956C>T (p.Leu652=)
c.1575C>T (p.Leu525=)
c.360C>T (p.Leu120=)
n.463C>T
n.778-7486G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847929T>ACA033964KCNQ1,KCNQ1-AS1c.1600T>A (p.Phe534Ile)
c.1957T>A (p.Phe653Ile)
c.1576T>A (p.Phe526Ile)
c.361T>A (p.Phe121Ile)
n.464T>A
n.778-7487A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847929T>CCA379140507KCNQ1,KCNQ1-AS1c.1600T>C (p.Phe534Leu)
c.1957T>C (p.Phe653Leu)
c.1576T>C (p.Phe526Leu)
c.361T>C (p.Phe121Leu)
n.464T>C
n.778-7487A>G
11g.2847929T>GCA379140508KCNQ1,KCNQ1-AS1c.1600T>G (p.Phe534Val)
c.1957T>G (p.Phe653Val)
c.1576T>G (p.Phe526Val)
c.361T>G (p.Phe121Val)
n.464T>G
n.778-7487A>C
11g.2847929T=CA1948349688KCNQ1,KCNQ1-AS1c.1600T= (p.Phe534=)
c.1957T= (p.Phe653=)
c.1576T= (p.Phe526=)
c.361T= (p.Phe121=)
n.464T=
n.778-7487A=
11g.2847930T>ACA379140509KCNQ1,KCNQ1-AS1c.1601T>A (p.Phe534Tyr)
c.1958T>A (p.Phe653Tyr)
c.1577T>A (p.Phe526Tyr)
c.362T>A (p.Phe121Tyr)
n.465T>A
n.778-7488A>T
 dbSNP gnomAD v2 gnomAD v4
11g.2847930T>CCA379140510KCNQ1,KCNQ1-AS1c.1601T>C (p.Phe534Ser)
c.1958T>C (p.Phe653Ser)
c.1577T>C (p.Phe526Ser)
c.362T>C (p.Phe121Ser)
n.465T>C
n.778-7488A>G
 gnomAD v4
11g.2847930T>GCA379140511KCNQ1,KCNQ1-AS1c.1601T>G (p.Phe534Cys)
c.1958T>G (p.Phe653Cys)
c.1577T>G (p.Phe526Cys)
c.362T>G (p.Phe121Cys)
n.465T>G
n.778-7488A>C
11g.2847930T=CA1948349689KCNQ1,KCNQ1-AS1c.1601T= (p.Phe534=)
c.1958T= (p.Phe653=)
c.1577T= (p.Phe526=)
c.362T= (p.Phe121=)
n.465T=
n.778-7488A=
11g.2847930_2847945delinsTCCTGCCCAGCAACACCA1948349690KCNQ1,KCNQ1-AS1c.1601_1616delinsTCCTGCCCAGCAACAC (p.Phe534=)
c.1958_1973delinsTCCTGCCCAGCAACAC (p.Phe653=)
c.1577_1592delinsTCCTGCCCAGCAACAC (p.Phe526=)
c.362_377delinsTCCTGCCCAGCAACAC (p.Phe121=)
n.465_480delinsTCCTGCCCAGCAACAC
n.778-7503_778-7488delinsGTGTTGCTGGGCAGGA
11g.2847931C>ACA379140512KCNQ1,KCNQ1-AS1c.1602C>A (p.Phe534Leu)
c.1959C>A (p.Phe653Leu)
c.1578C>A (p.Phe526Leu)
c.363C>A (p.Phe121Leu)
n.466C>A
n.778-7489G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847931C=CA1948349693KCNQ1,KCNQ1-AS1c.1602C= (p.Phe534=)
c.1959C= (p.Phe653=)
c.1578C= (p.Phe526=)
c.363C= (p.Phe121=)
n.466C=
n.778-7489G=
11g.2847931C>GCA379140513KCNQ1,KCNQ1-AS1c.1602C>G (p.Phe534Leu)
c.1959C>G (p.Phe653Leu)
c.1578C>G (p.Phe526Leu)
c.363C>G (p.Phe121Leu)
n.466C>G
n.778-7489G>C
 gnomAD v4
11g.2847931C>TCA472466919KCNQ1,KCNQ1-AS1c.1602C>T (p.Phe534=)
c.1959C>T (p.Phe653=)
c.1578C>T (p.Phe526=)
c.363C>T (p.Phe121=)
n.466C>T
n.778-7489G>A
 gnomAD v4 COSMIC COSMIC
11g.2847932_2847937delCA2590572372KCNQ1,KCNQ1-AS1c.1603_1608del (p.Leu535_Pro536del)
c.1960_1965del (p.Leu654_Pro655del)
c.1579_1584del (p.Leu527_Pro528del)
c.364_369del (p.Leu122_Pro123del)
n.467_472del
n.778-7494_778-7489del
 dbSNP gnomAD v3
11g.2847939_2847953dupCA1948349692KCNQ1,KCNQ1-AS1c.1610_1624dup (p.Pro541_Thr542insSerAsnThrLeuPro)
c.1967_1981dup (p.Pro660_Thr661insSerAsnThrLeuPro)
c.1586_1600dup (p.Pro533_Thr534insSerAsnThrLeuPro)
c.371_385dup (p.Pro128_Thr129insSerAsnThrLeuPro)
n.474_488dup
n.778-7503_778-7489dup
 dbSNP
11g.2847939_2847953delCA1948349691KCNQ1,KCNQ1-AS1c.1610_1624del (p.Ser537_Pro541del)
c.1967_1981del (p.Ser656_Pro660del)
c.1586_1600del (p.Ser529_Pro533del)
c.371_385del (p.Ser124_Pro128del)
n.474_488del
n.778-7503_778-7489del
 dbSNP gnomAD v4
11g.2847932C>ACA379140514KCNQ1,KCNQ1-AS1c.1603C>A (p.Leu535Met)
c.1960C>A (p.Leu654Met)
c.1579C>A (p.Leu527Met)
c.364C>A (p.Leu122Met)
n.467C>A
n.778-7490G>T
 gnomAD v4
11g.2847932C=CA1948349694KCNQ1,KCNQ1-AS1c.1603C= (p.Leu535=)
c.1960C= (p.Leu654=)
c.1579C= (p.Leu527=)
c.364C= (p.Leu122=)
n.467C=
n.778-7490G=
11g.2847932C>GCA379140515KCNQ1,KCNQ1-AS1c.1603C>G (p.Leu535Val)
c.1960C>G (p.Leu654Val)
c.1579C>G (p.Leu527Val)
c.364C>G (p.Leu122Val)
n.467C>G
n.778-7490G>C
11g.2847932C>TCA472466924KCNQ1,KCNQ1-AS1c.1603C>T (p.Leu535=)
c.1960C>T (p.Leu654=)
c.1579C>T (p.Leu527=)
c.364C>T (p.Leu122=)
n.467C>T
n.778-7490G>A
 ClinVar dbSNP gnomAD v4
11g.2847933T>ACA379140518KCNQ1,KCNQ1-AS1c.1604T>A (p.Leu535Gln)
c.1961T>A (p.Leu654Gln)
c.1580T>A (p.Leu527Gln)
c.365T>A (p.Leu122Gln)
n.468T>A
n.778-7491A>T
11g.2847933T>CCA379140517KCNQ1,KCNQ1-AS1c.1604T>C (p.Leu535Pro)
c.1961T>C (p.Leu654Pro)
c.1580T>C (p.Leu527Pro)
c.365T>C (p.Leu122Pro)
n.468T>C
n.778-7491A>G
 gnomAD v4
11g.2847933T>GCA379140516KCNQ1,KCNQ1-AS1c.1604T>G (p.Leu535Arg)
c.1961T>G (p.Leu654Arg)
c.1580T>G (p.Leu527Arg)
c.365T>G (p.Leu122Arg)
n.468T>G
n.778-7491A>C
11g.2847934G>ACA472466929KCNQ1,KCNQ1-AS1c.1605G>A (p.Leu535=)
c.1962G>A (p.Leu654=)
c.1581G>A (p.Leu527=)
c.366G>A (p.Leu122=)
n.469G>A
n.778-7492C>T
 ClinVar gnomAD v4
11g.2847934G>CCA033979KCNQ1,KCNQ1-AS1c.1605G>C (p.Leu535=)
c.1962G>C (p.Leu654=)
c.1581G>C (p.Leu527=)
c.366G>C (p.Leu122=)
n.469G>C
n.778-7492C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847934G=CA1948349695KCNQ1,KCNQ1-AS1c.1605G= (p.Leu535=)
c.1962G= (p.Leu654=)
c.1581G= (p.Leu527=)
c.366G= (p.Leu122=)
n.469G=
n.778-7492C=
11g.2847934G>TCA472466932KCNQ1,KCNQ1-AS1c.1605G>T (p.Leu535=)
c.1962G>T (p.Leu654=)
c.1581G>T (p.Leu527=)
c.366G>T (p.Leu122=)
n.469G>T
n.778-7492C>A
 gnomAD v4
11g.2847935C>ACA379140519KCNQ1,KCNQ1-AS1c.1606C>A (p.Pro536Thr)
c.1963C>A (p.Pro655Thr)
c.1582C>A (p.Pro528Thr)
c.367C>A (p.Pro123Thr)
n.470C>A
n.778-7493G>T
 gnomAD v4
11g.2847935C=CA1948349696KCNQ1,KCNQ1-AS1c.1606C= (p.Pro536=)
c.1963C= (p.Pro655=)
c.1582C= (p.Pro528=)
c.367C= (p.Pro123=)
n.470C=
n.778-7493G=
11g.2847935C>GCA379140520KCNQ1,KCNQ1-AS1c.1606C>G (p.Pro536Ala)
c.1963C>G (p.Pro655Ala)
c.1582C>G (p.Pro528Ala)
c.367C>G (p.Pro123Ala)
n.470C>G
n.778-7493G>C
 gnomAD v4
11g.2847935C>TCA034005KCNQ1,KCNQ1-AS1c.1606C>T (p.Pro536Ser)
c.1963C>T (p.Pro655Ser)
c.1582C>T (p.Pro528Ser)
c.367C>T (p.Pro123Ser)
n.470C>T
n.778-7493G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847937delCA2612011436KCNQ1,KCNQ1-AS1c.1608del (p.Ser537AlafsTer10)
c.1965del (p.Ser656AlafsTer10)
c.1584del (p.Ser529AlafsTer10)
c.369del (p.Ser124AlafsTer10)
n.472del
n.778-7493del
 gnomAD v4
11g.2847936C>ACA379140521KCNQ1,KCNQ1-AS1c.1607C>A (p.Pro536His)
c.1964C>A (p.Pro655His)
c.1583C>A (p.Pro528His)
c.368C>A (p.Pro123His)
n.471C>A
n.778-7494G>T
 gnomAD v4
11g.2847936C=CA1948349697KCNQ1,KCNQ1-AS1c.1607C= (p.Pro536=)
c.1964C= (p.Pro655=)
c.1583C= (p.Pro528=)
c.368C= (p.Pro123=)
n.471C=
n.778-7494G=
11g.2847936C>GCA379140522KCNQ1,KCNQ1-AS1c.1607C>G (p.Pro536Arg)
c.1964C>G (p.Pro655Arg)
c.1583C>G (p.Pro528Arg)
c.368C>G (p.Pro123Arg)
n.471C>G
n.778-7494G>C
 dbSNP gnomAD v4
11g.2847936C>TCA034021KCNQ1,KCNQ1-AS1c.1607C>T (p.Pro536Leu)
c.1964C>T (p.Pro655Leu)
c.1583C>T (p.Pro528Leu)
c.368C>T (p.Pro123Leu)
n.471C>T
n.778-7494G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847937C>ACA472466938KCNQ1,KCNQ1-AS1c.1608C>A (p.Pro536=)
c.1965C>A (p.Pro655=)
c.1584C>A (p.Pro528=)
c.369C>A (p.Pro123=)
n.472C>A
n.778-7495G>T
 gnomAD v4
11g.2847937C=CA1948349698KCNQ1,KCNQ1-AS1c.1608C= (p.Pro536=)
c.1965C= (p.Pro655=)
c.1584C= (p.Pro528=)
c.369C= (p.Pro123=)
n.472C=
n.778-7495G=
11g.2847937C>GCA472466939KCNQ1,KCNQ1-AS1c.1608C>G (p.Pro536=)
c.1965C>G (p.Pro655=)
c.1584C>G (p.Pro528=)
c.369C>G (p.Pro123=)
n.472C>G
n.778-7495G>C
11g.2847937C>TCA472466940KCNQ1,KCNQ1-AS1c.1608C>T (p.Pro536=)
c.1965C>T (p.Pro655=)
c.1584C>T (p.Pro528=)
c.369C>T (p.Pro123=)
n.472C>T
n.778-7495G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847938A=CA1948349699KCNQ1,KCNQ1-AS1c.1609A= (p.Ser537=)
c.1966A= (p.Ser656=)
c.1585A= (p.Ser529=)
c.370A= (p.Ser124=)
n.473A=
n.778-7496T=
11g.2847938A>CCA379140524KCNQ1,KCNQ1-AS1c.1609A>C (p.Ser537Arg)
c.1966A>C (p.Ser656Arg)
c.1585A>C (p.Ser529Arg)
c.370A>C (p.Ser124Arg)
n.473A>C
n.778-7496T>G
11g.2847938A>GCA379140525KCNQ1,KCNQ1-AS1c.1609A>G (p.Ser537Gly)
c.1966A>G (p.Ser656Gly)
c.1585A>G (p.Ser529Gly)
c.370A>G (p.Ser124Gly)
n.473A>G
n.778-7496T>C
 dbSNP
11g.2847938A>TCA379140526KCNQ1,KCNQ1-AS1c.1609A>T (p.Ser537Cys)
c.1966A>T (p.Ser656Cys)
c.1585A>T (p.Ser529Cys)
c.370A>T (p.Ser124Cys)
n.473A>T
n.778-7496T>A
11g.2847939G>ACA379140527KCNQ1,KCNQ1-AS1c.1610G>A (p.Ser537Asn)
c.1967G>A (p.Ser656Asn)
c.1586G>A (p.Ser529Asn)
c.371G>A (p.Ser124Asn)
n.474G>A
n.778-7497C>T
 gnomAD v4
11g.2847939G>CCA379140528KCNQ1,KCNQ1-AS1c.1610G>C (p.Ser537Thr)
c.1967G>C (p.Ser656Thr)
c.1586G>C (p.Ser529Thr)
c.371G>C (p.Ser124Thr)
n.474G>C
n.778-7497C>G
 gnomAD v4
11g.2847939G>TCA379140529KCNQ1,KCNQ1-AS1c.1610G>T (p.Ser537Ile)
c.1967G>T (p.Ser656Ile)
c.1586G>T (p.Ser529Ile)
c.371G>T (p.Ser124Ile)
n.474G>T
n.778-7497C>A
 gnomAD v4
11g.2847940C>ACA379140531KCNQ1,KCNQ1-AS1c.1611C>A (p.Ser537Arg)
c.1968C>A (p.Ser656Arg)
c.1587C>A (p.Ser529Arg)
c.372C>A (p.Ser124Arg)
n.475C>A
n.778-7498G>T
 gnomAD v4
11g.2847940C=CA1948349700KCNQ1,KCNQ1-AS1c.1611C= (p.Ser537=)
c.1968C= (p.Ser656=)
c.1587C= (p.Ser529=)
c.372C= (p.Ser124=)
n.475C=
n.778-7498G=
11g.2847940C>GCA379140530KCNQ1,KCNQ1-AS1c.1611C>G (p.Ser537Arg)
c.1968C>G (p.Ser656Arg)
c.1587C>G (p.Ser529Arg)
c.372C>G (p.Ser124Arg)
n.475C>G
n.778-7498G>C
11g.2847940C>TCA472466954KCNQ1,KCNQ1-AS1c.1611C>T (p.Ser537=)
c.1968C>T (p.Ser656=)
c.1587C>T (p.Ser529=)
c.372C>T (p.Ser124=)
n.475C>T
n.778-7498G>A
 ClinVar dbSNP gnomAD v4
11g.2847941A>CCA379140532KCNQ1,KCNQ1-AS1c.1612A>C (p.Asn538His)
c.1969A>C (p.Asn657His)
c.1588A>C (p.Asn530His)
c.373A>C (p.Asn125His)
n.476A>C
n.778-7499T>G
11g.2847941A>GCA379140534KCNQ1,KCNQ1-AS1c.1612A>G (p.Asn538Asp)
c.1969A>G (p.Asn657Asp)
c.1588A>G (p.Asn530Asp)
c.373A>G (p.Asn125Asp)
n.476A>G
n.778-7499T>C
11g.2847941A>TCA379140533KCNQ1,KCNQ1-AS1c.1612A>T (p.Asn538Tyr)
c.1969A>T (p.Asn657Tyr)
c.1588A>T (p.Asn530Tyr)
c.373A>T (p.Asn125Tyr)
n.476A>T
n.778-7499T>A
11g.2847942A=CA1948349701KCNQ1,KCNQ1-AS1c.1613A= (p.Asn538=)
c.1970A= (p.Asn657=)
c.1589A= (p.Asn530=)
c.374A= (p.Asn125=)
n.477A=
n.778-7500T=
11g.2847942A>CCA379140535KCNQ1,KCNQ1-AS1c.1613A>C (p.Asn538Thr)
c.1970A>C (p.Asn657Thr)
c.1589A>C (p.Asn530Thr)
c.374A>C (p.Asn125Thr)
n.477A>C
n.778-7500T>G
 dbSNP gnomAD v4
11g.2847942A>GCA034034KCNQ1,KCNQ1-AS1c.1613A>G (p.Asn538Ser)
c.1970A>G (p.Asn657Ser)
c.1589A>G (p.Asn530Ser)
c.374A>G (p.Asn125Ser)
n.477A>G
n.778-7500T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847942A>TCA379140536KCNQ1,KCNQ1-AS1c.1613A>T (p.Asn538Ile)
c.1970A>T (p.Asn657Ile)
c.1589A>T (p.Asn530Ile)
c.374A>T (p.Asn125Ile)
n.477A>T
n.778-7500T>A
11g.2847943C>ACA379140537KCNQ1,KCNQ1-AS1c.1614C>A (p.Asn538Lys)
c.1971C>A (p.Asn657Lys)
c.1590C>A (p.Asn530Lys)
c.375C>A (p.Asn125Lys)
n.478C>A
n.778-7501G>T
 gnomAD v4
11g.2847943C=CA1948349702KCNQ1,KCNQ1-AS1c.1614C= (p.Asn538=)
c.1971C= (p.Asn657=)
c.1590C= (p.Asn530=)
c.375C= (p.Asn125=)
n.478C=
n.778-7501G=
11g.2847943C>GCA379140538KCNQ1,KCNQ1-AS1c.1614C>G (p.Asn538Lys)
c.1971C>G (p.Asn657Lys)
c.1590C>G (p.Asn530Lys)
c.375C>G (p.Asn125Lys)
n.478C>G
n.778-7501G>C
11g.2847943C>TCA472466973KCNQ1,KCNQ1-AS1c.1614C>T (p.Asn538=)
c.1971C>T (p.Asn657=)
c.1590C>T (p.Asn530=)
c.375C>T (p.Asn125=)
n.478C>T
n.778-7501G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847944A=CA1948349703KCNQ1,KCNQ1-AS1c.1615A= (p.Thr539=)
c.1972A= (p.Thr658=)
c.1591A= (p.Thr531=)
c.376A= (p.Thr126=)
n.479A=
n.778-7502T=
11g.2847944A>CCA379140539KCNQ1,KCNQ1-AS1c.1615A>C (p.Thr539Pro)
c.1972A>C (p.Thr658Pro)
c.1591A>C (p.Thr531Pro)
c.376A>C (p.Thr126Pro)
n.479A>C
n.778-7502T>G
 dbSNP gnomAD v2 gnomAD v4
11g.2847944A>GCA379140540KCNQ1,KCNQ1-AS1c.1615A>G (p.Thr539Ala)
c.1972A>G (p.Thr658Ala)
c.1591A>G (p.Thr531Ala)
c.376A>G (p.Thr126Ala)
n.479A>G
n.778-7502T>C
11g.2847944A>TCA379140541KCNQ1,KCNQ1-AS1c.1615A>T (p.Thr539Ser)
c.1972A>T (p.Thr658Ser)
c.1591A>T (p.Thr531Ser)
c.376A>T (p.Thr126Ser)
n.479A>T
n.778-7502T>A
 gnomAD v4
11g.2847945C>ACA034061KCNQ1,KCNQ1-AS1c.1616C>A (p.Thr539Asn)
c.1973C>A (p.Thr658Asn)
c.1592C>A (p.Thr531Asn)
c.377C>A (p.Thr126Asn)
n.480C>A
n.778-7503G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847945C=CA1948349704KCNQ1,KCNQ1-AS1c.1616C= (p.Thr539=)
c.1973C= (p.Thr658=)
c.1592C= (p.Thr531=)
c.377C= (p.Thr126=)
n.480C=
n.778-7503G=
11g.2847945C>GCA379140542KCNQ1,KCNQ1-AS1c.1616C>G (p.Thr539Ser)
c.1973C>G (p.Thr658Ser)
c.1592C>G (p.Thr531Ser)
c.377C>G (p.Thr126Ser)
n.480C>G
n.778-7503G>C
 gnomAD v4
11g.2847945C>TCA379140543KCNQ1,KCNQ1-AS1c.1616C>T (p.Thr539Ile)
c.1973C>T (p.Thr658Ile)
c.1592C>T (p.Thr531Ile)
c.377C>T (p.Thr126Ile)
n.480C>T
n.778-7503G>A
 gnomAD v2
11g.2847945_2847953delinsCCCTGCCCACA1948349705KCNQ1,KCNQ1-AS1c.1616_1624delinsCCCTGCCCA (p.Thr539=)
c.1973_1981delinsCCCTGCCCA (p.Thr658=)
c.1592_1600delinsCCCTGCCCA (p.Thr531=)
c.377_385delinsCCCTGCCCA (p.Thr126=)
n.480_488delinsCCCTGCCCA
n.778-7511_778-7503delinsTGGGCAGGG
11g.2847946C>ACA472466982KCNQ1,KCNQ1-AS1c.1617C>A (p.Thr539=)
c.1974C>A (p.Thr658=)
c.1593C>A (p.Thr531=)
c.378C>A (p.Thr126=)
n.481C>A
n.778-7504G>T
 gnomAD v4
11g.2847946C=CA1948349706KCNQ1,KCNQ1-AS1c.1617C= (p.Thr539=)
c.1974C= (p.Thr658=)
c.1593C= (p.Thr531=)
c.378C= (p.Thr126=)
n.481C=
n.778-7504G=
11g.2847946C>GCA472466983KCNQ1,KCNQ1-AS1c.1617C>G (p.Thr539=)
c.1974C>G (p.Thr658=)
c.1593C>G (p.Thr531=)
c.378C>G (p.Thr126=)
n.481C>G
n.778-7504G>C
 dbSNP gnomAD v2
11g.2847946C>TCA472466984KCNQ1,KCNQ1-AS1c.1617C>T (p.Thr539=)
c.1974C>T (p.Thr658=)
c.1593C>T (p.Thr531=)
c.378C>T (p.Thr126=)
n.481C>T
n.778-7504G>A
11g.2847949_2847956delCA597432741KCNQ1,KCNQ1-AS1c.1620_1627del (p.Pro541ArgfsTer12)
c.1977_1984del (p.Pro660ArgfsTer12)
c.1596_1603del (p.Pro533ArgfsTer12)
c.381_388del (p.Pro128ArgfsTer12)
n.484_491del
n.778-7511_778-7504del
 dbSNP gnomAD v2 gnomAD v4
11g.2847947C>ACA379140544KCNQ1,KCNQ1-AS1c.1618C>A (p.Leu540Met)
c.1975C>A (p.Leu659Met)
c.1594C>A (p.Leu532Met)
c.379C>A (p.Leu127Met)
n.482C>A
n.778-7505G>T
 gnomAD v4
11g.2847947C>GCA379140545KCNQ1,KCNQ1-AS1c.1618C>G (p.Leu540Val)
c.1975C>G (p.Leu659Val)
c.1594C>G (p.Leu532Val)
c.379C>G (p.Leu127Val)
n.482C>G
n.778-7505G>C
 gnomAD v4
11g.2847947C>TCA472466986KCNQ1,KCNQ1-AS1c.1618C>T (p.Leu540=)
c.1975C>T (p.Leu659=)
c.1594C>T (p.Leu532=)
c.379C>T (p.Leu127=)
n.482C>T
n.778-7505G>A
 ClinVar dbSNP
11g.2847948T>ACA379140546KCNQ1,KCNQ1-AS1c.1619T>A (p.Leu540Gln)
c.1976T>A (p.Leu659Gln)
c.1595T>A (p.Leu532Gln)
c.380T>A (p.Leu127Gln)
n.483T>A
n.778-7506A>T
11g.2847948T>CCA379140547KCNQ1,KCNQ1-AS1c.1619T>C (p.Leu540Pro)
c.1976T>C (p.Leu659Pro)
c.1595T>C (p.Leu532Pro)
c.380T>C (p.Leu127Pro)
n.483T>C
n.778-7506A>G
 gnomAD v4
11g.2847948T>GCA379140548KCNQ1,KCNQ1-AS1c.1619T>G (p.Leu540Arg)
c.1976T>G (p.Leu659Arg)
c.1595T>G (p.Leu532Arg)
c.380T>G (p.Leu127Arg)
n.483T>G
n.778-7506A>C
11g.2847949G>ACA472466993KCNQ1,KCNQ1-AS1c.1620G>A (p.Leu540=)
c.1977G>A (p.Leu659=)
c.1596G>A (p.Leu532=)
c.381G>A (p.Leu127=)
n.484G>A
n.778-7507C>T
 gnomAD v4
11g.2847949G>CCA472466994KCNQ1,KCNQ1-AS1c.1620G>C (p.Leu540=)
c.1977G>C (p.Leu659=)
c.1596G>C (p.Leu532=)
c.381G>C (p.Leu127=)
n.484G>C
n.778-7507C>G
11g.2847949G>TCA472466995KCNQ1,KCNQ1-AS1c.1620G>T (p.Leu540=)
c.1977G>T (p.Leu659=)
c.1596G>T (p.Leu532=)
c.381G>T (p.Leu127=)
n.484G>T
n.778-7507C>A
 ClinVar dbSNP gnomAD v4
11g.2847950C>ACA379140549KCNQ1,KCNQ1-AS1c.1621C>A (p.Pro541Thr)
c.1978C>A (p.Pro660Thr)
c.1597C>A (p.Pro533Thr)
c.382C>A (p.Pro128Thr)
n.485C>A
n.778-7508G>T
 gnomAD v4
11g.2847950C=CA1948349707KCNQ1,KCNQ1-AS1c.1621C= (p.Pro541=)
c.1978C= (p.Pro660=)
c.1597C= (p.Pro533=)
c.382C= (p.Pro128=)
n.485C=
n.778-7508G=
11g.2847950C>GCA379140550KCNQ1,KCNQ1-AS1c.1621C>G (p.Pro541Ala)
c.1978C>G (p.Pro660Ala)
c.1597C>G (p.Pro533Ala)
c.382C>G (p.Pro128Ala)
n.485C>G
n.778-7508G>C
11g.2847950C>TCA216345403KCNQ1,KCNQ1-AS1c.1621C>T (p.Pro541Ser)
c.1978C>T (p.Pro660Ser)
c.1597C>T (p.Pro533Ser)
c.382C>T (p.Pro128Ser)
n.485C>T
n.778-7508G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847951C>ACA10634493KCNQ1,KCNQ1-AS1c.1622C>A (p.Pro541His)
c.1979C>A (p.Pro660His)
c.1598C>A (p.Pro533His)
c.383C>A (p.Pro128His)
n.486C>A
n.778-7509G>T
 ClinVar dbSNP gnomAD v4
11g.2847951C=CA1948349708KCNQ1,KCNQ1-AS1c.1622C= (p.Pro541=)
c.1979C= (p.Pro660=)
c.1598C= (p.Pro533=)
c.383C= (p.Pro128=)
n.486C=
n.778-7509G=
11g.2847951C>GCA379140551KCNQ1,KCNQ1-AS1c.1622C>G (p.Pro541Arg)
c.1979C>G (p.Pro660Arg)
c.1598C>G (p.Pro533Arg)
c.383C>G (p.Pro128Arg)
n.486C>G
n.778-7509G>C
11g.2847951C>TCA379140552KCNQ1,KCNQ1-AS1c.1622C>T (p.Pro541Leu)
c.1979C>T (p.Pro660Leu)
c.1598C>T (p.Pro533Leu)
c.383C>T (p.Pro128Leu)
n.486C>T
n.778-7509G>A
 gnomAD v4

Number of alleles fetched