Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2847835_2847849dupCA2573053485KCNQ1,KCNQ1-AS1c.1506_1520dup (p.Gly507_Ser508insGlySerThrProGly)
c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly)
c.1482_1496dup (p.Gly499_Ser500insGlySerThrProGly)
c.267_281dup (p.Gly94_Ser95insGlySerThrProGly)
n.370_384dup
n.778-7404_778-7390dup
 ClinVar dbSNP
11g.2847833_2847850dupCA597432740KCNQ1,KCNQ1-AS1c.1504_1521dup (p.Gly507_Ser508insGlyGlySerThrProGly)
c.1861_1878dup (p.Gly626_Ser627insGlyGlySerThrProGly)
c.1480_1497dup (p.Gly499_Ser500insGlyGlySerThrProGly)
c.265_282dup (p.Gly94_Ser95insGlyGlySerThrProGly)
n.368_385dup
n.778-7407_778-7390dup
 dbSNP gnomAD v2 gnomAD v4
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.2847847_2847848delinsCGCA1948349630KCNQ1,KCNQ1-AS1c.1518_1519delinsCG (p.Pro506=)
c.1875_1876delinsCG (p.Pro625=)
c.1494_1495delinsCG (p.Pro498=)
c.279_280delinsCG (p.Pro93=)
n.382_383delinsCG
n.778-7406_778-7405delinsCG
11g.2847848G>ACA006538KCNQ1,KCNQ1-AS1c.1519G>A (p.Gly507Ser)
c.1876G>A (p.Gly626Ser)
c.1495G>A (p.Gly499Ser)
c.280G>A (p.Gly94Ser)
n.383G>A
n.778-7406C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847848G>CCA379140342KCNQ1,KCNQ1-AS1c.1519G>C (p.Gly507Arg)
c.1876G>C (p.Gly626Arg)
c.1495G>C (p.Gly499Arg)
c.280G>C (p.Gly94Arg)
n.383G>C
n.778-7406C>G
 ClinVar
11g.2847848G=CA1948349632KCNQ1,KCNQ1-AS1c.1519G= (p.Gly507=)
c.1876G= (p.Gly626=)
c.1495G= (p.Gly499=)
c.280G= (p.Gly94=)
n.383G=
n.778-7406C=
11g.2847848G>TCA379140343KCNQ1,KCNQ1-AS1c.1519G>T (p.Gly507Cys)
c.1876G>T (p.Gly626Cys)
c.1495G>T (p.Gly499Cys)
c.280G>T (p.Gly94Cys)
n.383G>T
n.778-7406C>A
 gnomAD v4 COSMIC COSMIC
11g.2847849delCA1948349631KCNQ1,KCNQ1-AS1c.1520del (p.Gly507AlafsTer?)
c.1877del (p.Gly626AlafsTer?)
c.1496del (p.Gly499AlafsTer?)
c.281del (p.Gly94AlafsTer?)
n.384del
n.778-7406del
 dbSNP
11g.2847849G>ACA379140344KCNQ1,KCNQ1-AS1c.1520G>A (p.Gly507Asp)
c.1877G>A (p.Gly626Asp)
c.1496G>A (p.Gly499Asp)
c.281G>A (p.Gly94Asp)
n.384G>A
n.778-7407C>T
 gnomAD v4
11g.2847849G>CCA379140345KCNQ1,KCNQ1-AS1c.1520G>C (p.Gly507Ala)
c.1877G>C (p.Gly626Ala)
c.1496G>C (p.Gly499Ala)
c.281G>C (p.Gly94Ala)
n.384G>C
n.778-7407C>G
11g.2847849G=CA1948349633KCNQ1,KCNQ1-AS1c.1520G= (p.Gly507=)
c.1877G= (p.Gly626=)
c.1496G= (p.Gly499=)
c.281G= (p.Gly94=)
n.384G=
n.778-7407C=
11g.2847849G>TCA379140346KCNQ1,KCNQ1-AS1c.1520G>T (p.Gly507Val)
c.1877G>T (p.Gly626Val)
c.1496G>T (p.Gly499Val)
c.281G>T (p.Gly94Val)
n.384G>T
n.778-7407C>A
 ClinVar dbSNP gnomAD v4
11g.2847850C>ACA472466488KCNQ1,KCNQ1-AS1c.1521C>A (p.Gly507=)
c.1878C>A (p.Gly626=)
c.1497C>A (p.Gly499=)
c.282C>A (p.Gly94=)
n.385C>A
n.778-7408G>T
 gnomAD v4
11g.2847850C>GCA472466489KCNQ1,KCNQ1-AS1c.1521C>G (p.Gly507=)
c.1878C>G (p.Gly626=)
c.1497C>G (p.Gly499=)
c.282C>G (p.Gly94=)
n.385C>G
n.778-7408G>C
 gnomAD v4
11g.2847850C>TCA472466487KCNQ1,KCNQ1-AS1c.1521C>T (p.Gly507=)
c.1878C>T (p.Gly626=)
c.1497C>T (p.Gly499=)
c.282C>T (p.Gly94=)
n.385C>T
n.778-7408G>A
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

Number of alleles fetched