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.2847789T>ACA379140220KCNQ1,KCNQ1-AS1c.1460T>A (p.Leu487Gln)
c.1817T>A (p.Leu606Gln)
c.1436T>A (p.Leu479Gln)
c.221T>A (p.Leu74Gln)
n.324T>A
n.778-7347A>T
 ClinVar gnomAD v4
11g.2847789T>CCA379140221KCNQ1,KCNQ1-AS1c.1460T>C (p.Leu487Pro)
c.1817T>C (p.Leu606Pro)
c.1436T>C (p.Leu479Pro)
c.221T>C (p.Leu74Pro)
n.324T>C
n.778-7347A>G
11g.2847789T>GCA379140222KCNQ1,KCNQ1-AS1c.1460T>G (p.Leu487Arg)
c.1817T>G (p.Leu606Arg)
c.1436T>G (p.Leu479Arg)
c.221T>G (p.Leu74Arg)
n.324T>G
n.778-7347A>C
11g.2847790G>ACA472466097KCNQ1,KCNQ1-AS1c.1461G>A (p.Leu487=)
c.1818G>A (p.Leu606=)
c.1437G>A (p.Leu479=)
c.222G>A (p.Leu74=)
n.325G>A
n.778-7348C>T
 ClinVar dbSNP gnomAD v4
11g.2847790G>CCA472466089KCNQ1,KCNQ1-AS1c.1461G>C (p.Leu487=)
c.1818G>C (p.Leu606=)
c.1437G>C (p.Leu479=)
c.222G>C (p.Leu74=)
n.325G>C
n.778-7348C>G
11g.2847790G=CA1948349595KCNQ1,KCNQ1-AS1c.1461G= (p.Leu487=)
c.1818G= (p.Leu606=)
c.1437G= (p.Leu479=)
c.222G= (p.Leu74=)
n.325G=
n.778-7348C=
11g.2847790G>TCA472466088KCNQ1,KCNQ1-AS1c.1461G>T (p.Leu487=)
c.1818G>T (p.Leu606=)
c.1437G>T (p.Leu479=)
c.222G>T (p.Leu74=)
n.325G>T
n.778-7348C>A
 gnomAD v4
11g.2847791G>ACA379140223KCNQ1,KCNQ1-AS1c.1462G>A (p.Ala488Thr)
c.1819G>A (p.Ala607Thr)
c.1438G>A (p.Ala480Thr)
c.223G>A (p.Ala75Thr)
n.326G>A
n.778-7349C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847791G>CCA379140224KCNQ1,KCNQ1-AS1c.1462G>C (p.Ala488Pro)
c.1819G>C (p.Ala607Pro)
c.1438G>C (p.Ala480Pro)
c.223G>C (p.Ala75Pro)
n.326G>C
n.778-7349C>G
 dbSNP gnomAD v2 COSMIC
11g.2847791G=CA1948349596KCNQ1,KCNQ1-AS1c.1462G= (p.Ala488=)
c.1819G= (p.Ala607=)
c.1438G= (p.Ala480=)
c.223G= (p.Ala75=)
n.326G=
n.778-7349C=
11g.2847791G>TCA379140225KCNQ1,KCNQ1-AS1c.1462G>T (p.Ala488Ser)
c.1819G>T (p.Ala607Ser)
c.1438G>T (p.Ala480Ser)
c.223G>T (p.Ala75Ser)
n.326G>T
n.778-7349C>A
 ClinVar gnomAD v4
11g.2847792C>ACA379140226KCNQ1,KCNQ1-AS1c.1463C>A (p.Ala488Glu)
c.1820C>A (p.Ala607Glu)
c.1439C>A (p.Ala480Glu)
c.224C>A (p.Ala75Glu)
n.327C>A
n.778-7350G>T
 gnomAD v4
11g.2847792C>GCA379140227KCNQ1,KCNQ1-AS1c.1463C>G (p.Ala488Gly)
c.1820C>G (p.Ala607Gly)
c.1439C>G (p.Ala480Gly)
c.224C>G (p.Ala75Gly)
n.327C>G
n.778-7350G>C
11g.2847792C>TCA379140228KCNQ1,KCNQ1-AS1c.1463C>T (p.Ala488Val)
c.1820C>T (p.Ala607Val)
c.1439C>T (p.Ala480Val)
c.224C>T (p.Ala75Val)
n.327C>T
n.778-7350G>A
 gnomAD v4
11g.2847793A=CA1948349597KCNQ1,KCNQ1-AS1c.1464A= (p.Ala488=)
c.1821A= (p.Ala607=)
c.1440A= (p.Ala480=)
c.225A= (p.Ala75=)
n.328A=
n.778-7351T=
11g.2847793A>CCA472466122KCNQ1,KCNQ1-AS1c.1464A>C (p.Ala488=)
c.1821A>C (p.Ala607=)
c.1440A>C (p.Ala480=)
c.225A>C (p.Ala75=)
n.328A>C
n.778-7351T>G
11g.2847793A>GCA472466111KCNQ1,KCNQ1-AS1c.1464A>G (p.Ala488=)
c.1821A>G (p.Ala607=)
c.1440A>G (p.Ala480=)
c.225A>G (p.Ala75=)
n.328A>G
n.778-7351T>C
 dbSNP gnomAD v2 gnomAD v4
11g.2847793A>TCA472466115KCNQ1,KCNQ1-AS1c.1464A>T (p.Ala488=)
c.1821A>T (p.Ala607=)
c.1440A>T (p.Ala480=)
c.225A>T (p.Ala75=)
n.328A>T
n.778-7351T>A
11g.2847794C>ACA379140230KCNQ1,KCNQ1-AS1c.1465C>A (p.Leu489Ile)
c.1822C>A (p.Leu608Ile)
c.1441C>A (p.Leu481Ile)
c.226C>A (p.Leu76Ile)
n.329C>A
n.778-7352G>T
 gnomAD v4
11g.2847794C=CA1948349598KCNQ1,KCNQ1-AS1c.1465C= (p.Leu489=)
c.1822C= (p.Leu608=)
c.1441C= (p.Leu481=)
c.226C= (p.Leu76=)
n.329C=
n.778-7352G=
11g.2847794C>GCA379140231KCNQ1,KCNQ1-AS1c.1465C>G (p.Leu489Val)
c.1822C>G (p.Leu608Val)
c.1441C>G (p.Leu481Val)
c.226C>G (p.Leu76Val)
n.329C>G
n.778-7352G>C
 ClinVar dbSNP
11g.2847794C>TCA379140229KCNQ1,KCNQ1-AS1c.1465C>T (p.Leu489Phe)
c.1822C>T (p.Leu608Phe)
c.1441C>T (p.Leu481Phe)
c.226C>T (p.Leu76Phe)
n.329C>T
n.778-7352G>A
 ClinVar
11g.2847794_2847797delinsCTCACA1948349599KCNQ1,KCNQ1-AS1c.1465_1468delinsCTCA (p.Leu489=)
c.1822_1825delinsCTCA (p.Leu608=)
c.1441_1444delinsCTCA (p.Leu481=)
c.226_229delinsCTCA (p.Leu76=)
n.329_332delinsCTCA
n.778-7355_778-7352delinsTGAG
11g.2847795T>ACA379140232KCNQ1,KCNQ1-AS1c.1466T>A (p.Leu489His)
c.1823T>A (p.Leu608His)
c.1442T>A (p.Leu481His)
c.227T>A (p.Leu76His)
n.330T>A
n.778-7353A>T
 gnomAD v4
11g.2847795T>CCA379140233KCNQ1,KCNQ1-AS1c.1466T>C (p.Leu489Pro)
c.1823T>C (p.Leu608Pro)
c.1442T>C (p.Leu481Pro)
c.227T>C (p.Leu76Pro)
n.330T>C
n.778-7353A>G
11g.2847795T>GCA379140234KCNQ1,KCNQ1-AS1c.1466T>G (p.Leu489Arg)
c.1823T>G (p.Leu608Arg)
c.1442T>G (p.Leu481Arg)
c.227T>G (p.Leu76Arg)
n.330T>G
n.778-7353A>C
11g.2847798_2847800delCA658656098KCNQ1,KCNQ1-AS1c.1469_1471del (p.Ile490del)
c.1826_1828del (p.Ile609del)
c.1445_1447del (p.Ile482del)
c.230_232del (p.Ile77del)
n.333_335del
n.778-7355_778-7353del
 ClinVar dbSNP
11g.2847796C>ACA472466134KCNQ1,KCNQ1-AS1c.1467C>A (p.Leu489=)
c.1824C>A (p.Leu608=)
c.1443C>A (p.Leu481=)
c.228C>A (p.Leu76=)
n.331C>A
n.778-7354G>T
 gnomAD v4
11g.2847796C>GCA472466137KCNQ1,KCNQ1-AS1c.1467C>G (p.Leu489=)
c.1824C>G (p.Leu608=)
c.1443C>G (p.Leu481=)
c.228C>G (p.Leu76=)
n.331C>G
n.778-7354G>C
11g.2847796C>TCA472466142KCNQ1,KCNQ1-AS1c.1467C>T (p.Leu489=)
c.1824C>T (p.Leu608=)
c.1443C>T (p.Leu481=)
c.228C>T (p.Leu76=)
n.331C>T
n.778-7354G>A
 gnomAD v4
11g.2847797A>CCA379140235KCNQ1,KCNQ1-AS1c.1468A>C (p.Ile490Leu)
c.1825A>C (p.Ile609Leu)
c.1444A>C (p.Ile482Leu)
c.229A>C (p.Ile77Leu)
n.332A>C
n.778-7355T>G
11g.2847797A>GCA379140236KCNQ1,KCNQ1-AS1c.1468A>G (p.Ile490Val)
c.1825A>G (p.Ile609Val)
c.1444A>G (p.Ile482Val)
c.229A>G (p.Ile77Val)
n.332A>G
n.778-7355T>C
11g.2847797A>TCA379140237KCNQ1,KCNQ1-AS1c.1468A>T (p.Ile490Phe)
c.1825A>T (p.Ile609Phe)
c.1444A>T (p.Ile482Phe)
c.229A>T (p.Ile77Phe)
n.332A>T
n.778-7355T>A
11g.2847798T>ACA379140238KCNQ1,KCNQ1-AS1c.1469T>A (p.Ile490Asn)
c.1826T>A (p.Ile609Asn)
c.1445T>A (p.Ile482Asn)
c.230T>A (p.Ile77Asn)
n.333T>A
n.778-7356A>T
 ClinVar gnomAD v4
11g.2847798T>CCA379140239KCNQ1,KCNQ1-AS1c.1469T>C (p.Ile490Thr)
c.1826T>C (p.Ile609Thr)
c.1445T>C (p.Ile482Thr)
c.230T>C (p.Ile77Thr)
n.333T>C
n.778-7356A>G
11g.2847798T>GCA379140240KCNQ1,KCNQ1-AS1c.1469T>G (p.Ile490Ser)
c.1826T>G (p.Ile609Ser)
c.1445T>G (p.Ile482Ser)
c.230T>G (p.Ile77Ser)
n.333T>G
n.778-7356A>C
11g.2847803_2847815delCA2612011065KCNQ1,KCNQ1-AS1c.1474_1486del (p.Asp492SerfsTer?)
c.1831_1843del (p.Asp611SerfsTer?)
c.1450_1462del (p.Asp484SerfsTer?)
c.235_247del (p.Asp79SerfsTer?)
n.338_350del
n.778-7368_778-7356del
 gnomAD v4
11g.2847799C>ACA472466148KCNQ1,KCNQ1-AS1c.1470C>A (p.Ile490=)
c.1827C>A (p.Ile609=)
c.1446C>A (p.Ile482=)
c.231C>A (p.Ile77=)
n.334C>A
n.778-7357G>T
 gnomAD v4
11g.2847799C=CA1948349600KCNQ1,KCNQ1-AS1c.1470C= (p.Ile490=)
c.1827C= (p.Ile609=)
c.1446C= (p.Ile482=)
c.231C= (p.Ile77=)
n.334C=
n.778-7357G=
11g.2847799C>GCA379140241KCNQ1,KCNQ1-AS1c.1470C>G (p.Ile490Met)
c.1827C>G (p.Ile609Met)
c.1446C>G (p.Ile482Met)
c.231C>G (p.Ile77Met)
n.334C>G
n.778-7357G>C
11g.2847799C>TCA033274KCNQ1,KCNQ1-AS1c.1470C>T (p.Ile490=)
c.1827C>T (p.Ile609=)
c.1446C>T (p.Ile482=)
c.231C>T (p.Ile77=)
n.334C>T
n.778-7357G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847800A>CCA379140244KCNQ1,KCNQ1-AS1c.1471A>C (p.Thr491Pro)
c.1828A>C (p.Thr610Pro)
c.1447A>C (p.Thr483Pro)
c.232A>C (p.Thr78Pro)
n.335A>C
n.778-7358T>G
11g.2847800A>GCA379140243KCNQ1,KCNQ1-AS1c.1471A>G (p.Thr491Ala)
c.1828A>G (p.Thr610Ala)
c.1447A>G (p.Thr483Ala)
c.232A>G (p.Thr78Ala)
n.335A>G
n.778-7358T>C
 gnomAD v4
11g.2847800A>TCA379140242KCNQ1,KCNQ1-AS1c.1471A>T (p.Thr491Ser)
c.1828A>T (p.Thr610Ser)
c.1447A>T (p.Thr483Ser)
c.232A>T (p.Thr78Ser)
n.335A>T
n.778-7358T>A
11g.2847801C>ACA006469KCNQ1,KCNQ1-AS1c.1472C>A (p.Thr491Asn)
c.1829C>A (p.Thr610Asn)
c.1448C>A (p.Thr483Asn)
c.233C>A (p.Thr78Asn)
n.336C>A
n.778-7359G>T
 ClinVar dbSNP gnomAD v4
11g.2847801C=CA1948349601KCNQ1,KCNQ1-AS1c.1472C= (p.Thr491=)
c.1829C= (p.Thr610=)
c.1448C= (p.Thr483=)
c.233C= (p.Thr78=)
n.336C=
n.778-7359G=
11g.2847801C>GCA379140245KCNQ1,KCNQ1-AS1c.1472C>G (p.Thr491Ser)
c.1829C>G (p.Thr610Ser)
c.1448C>G (p.Thr483Ser)
c.233C>G (p.Thr78Ser)
n.336C>G
n.778-7359G>C
11g.2847801C>TCA379140246KCNQ1,KCNQ1-AS1c.1472C>T (p.Thr491Ile)
c.1829C>T (p.Thr610Ile)
c.1448C>T (p.Thr483Ile)
c.233C>T (p.Thr78Ile)
n.336C>T
n.778-7359G>A
 gnomAD v4
11g.2847802C>ACA472466171KCNQ1,KCNQ1-AS1c.1473C>A (p.Thr491=)
c.1830C>A (p.Thr610=)
c.1449C>A (p.Thr483=)
c.234C>A (p.Thr78=)
n.337C>A
n.778-7360G>T
 gnomAD v4
11g.2847802C=CA1948349602KCNQ1,KCNQ1-AS1c.1473C= (p.Thr491=)
c.1830C= (p.Thr610=)
c.1449C= (p.Thr483=)
c.234C= (p.Thr78=)
n.337C=
n.778-7360G=
11g.2847802C>GCA472466173KCNQ1,KCNQ1-AS1c.1473C>G (p.Thr491=)
c.1830C>G (p.Thr610=)
c.1449C>G (p.Thr483=)
c.234C>G (p.Thr78=)
n.337C>G
n.778-7360G>C
 ClinVar gnomAD v4 COSMIC COSMIC
11g.2847802C>TCA033288KCNQ1,KCNQ1-AS1c.1473C>T (p.Thr491=)
c.1830C>T (p.Thr610=)
c.1449C>T (p.Thr483=)
c.234C>T (p.Thr78=)
n.337C>T
n.778-7360G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847803G>ACA006476KCNQ1,KCNQ1-AS1c.1474G>A (p.Asp492Asn)
c.1831G>A (p.Asp611Asn)
c.1450G>A (p.Asp484Asn)
c.235G>A (p.Asp79Asn)
n.338G>A
n.778-7361C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847803G>CCA379140247KCNQ1,KCNQ1-AS1c.1474G>C (p.Asp492His)
c.1831G>C (p.Asp611His)
c.1450G>C (p.Asp484His)
c.235G>C (p.Asp79His)
n.338G>C
n.778-7361C>G
11g.2847803G=CA1948349603KCNQ1,KCNQ1-AS1c.1474G= (p.Asp492=)
c.1831G= (p.Asp611=)
c.1450G= (p.Asp484=)
c.235G= (p.Asp79=)
n.338G=
n.778-7361C=
11g.2847803G>TCA006483KCNQ1,KCNQ1-AS1c.1474G>T (p.Asp492Tyr)
c.1831G>T (p.Asp611Tyr)
c.1450G>T (p.Asp484Tyr)
c.235G>T (p.Asp79Tyr)
n.338G>T
n.778-7361C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847803_2847806dupCA2695213093KCNQ1,KCNQ1-AS1c.1474_1477dup (p.Met493ArgfsTer?)
c.1831_1834dup (p.Met612ArgfsTer?)
c.1450_1453dup (p.Met485ArgfsTer?)
c.235_238dup (p.Met80ArgfsTer?)
n.338_341dup
n.778-7364_778-7361dup
11g.2847804A>CCA379140248KCNQ1,KCNQ1-AS1c.1475A>C (p.Asp492Ala)
c.1832A>C (p.Asp611Ala)
c.1451A>C (p.Asp484Ala)
c.236A>C (p.Asp79Ala)
n.339A>C
n.778-7362T>G
11g.2847804A>GCA379140249KCNQ1,KCNQ1-AS1c.1475A>G (p.Asp492Gly)
c.1832A>G (p.Asp611Gly)
c.1451A>G (p.Asp484Gly)
c.236A>G (p.Asp79Gly)
n.339A>G
n.778-7362T>C
11g.2847804A>TCA379140250KCNQ1,KCNQ1-AS1c.1475A>T (p.Asp492Val)
c.1832A>T (p.Asp611Val)
c.1451A>T (p.Asp484Val)
c.236A>T (p.Asp79Val)
n.339A>T
n.778-7362T>A
11g.2847805C>ACA379140251KCNQ1,KCNQ1-AS1c.1476C>A (p.Asp492Glu)
c.1833C>A (p.Asp611Glu)
c.1452C>A (p.Asp484Glu)
c.237C>A (p.Asp79Glu)
n.340C>A
n.778-7363G>T
11g.2847805C>GCA379140252KCNQ1,KCNQ1-AS1c.1476C>G (p.Asp492Glu)
c.1833C>G (p.Asp611Glu)
c.1452C>G (p.Asp484Glu)
c.237C>G (p.Asp79Glu)
n.340C>G
n.778-7363G>C
11g.2847805C>TCA472466199KCNQ1,KCNQ1-AS1c.1476C>T (p.Asp492=)
c.1833C>T (p.Asp611=)
c.1452C>T (p.Asp484=)
c.237C>T (p.Asp79=)
n.340C>T
n.778-7363G>A
 gnomAD v4
11g.2847806A>CCA379140254KCNQ1,KCNQ1-AS1c.1477A>C (p.Met493Leu)
c.1834A>C (p.Met612Leu)
c.1453A>C (p.Met485Leu)
c.238A>C (p.Met80Leu)
n.341A>C
n.778-7364T>G
11g.2847806A>GCA379140255KCNQ1,KCNQ1-AS1c.1477A>G (p.Met493Val)
c.1834A>G (p.Met612Val)
c.1453A>G (p.Met485Val)
c.238A>G (p.Met80Val)
n.341A>G
n.778-7364T>C
 gnomAD v4
11g.2847806A>TCA379140253KCNQ1,KCNQ1-AS1c.1477A>T (p.Met493Leu)
c.1834A>T (p.Met612Leu)
c.1453A>T (p.Met485Leu)
c.238A>T (p.Met80Leu)
n.341A>T
n.778-7364T>A
11g.2847807T>ACA379140258KCNQ1,KCNQ1-AS1c.1478T>A (p.Met493Lys)
c.1835T>A (p.Met612Lys)
c.1454T>A (p.Met485Lys)
c.239T>A (p.Met80Lys)
n.342T>A
n.778-7365A>T
11g.2847807T>CCA379140256KCNQ1,KCNQ1-AS1c.1478T>C (p.Met493Thr)
c.1835T>C (p.Met612Thr)
c.1454T>C (p.Met485Thr)
c.239T>C (p.Met80Thr)
n.342T>C
n.778-7365A>G
11g.2847807T>GCA379140257KCNQ1,KCNQ1-AS1c.1478T>G (p.Met493Arg)
c.1835T>G (p.Met612Arg)
c.1454T>G (p.Met485Arg)
c.239T>G (p.Met80Arg)
n.342T>G
n.778-7365A>C
11g.2847808G>ACA10582887KCNQ1,KCNQ1-AS1c.1479G>A (p.Met493Ile)
c.1836G>A (p.Met612Ile)
c.1455G>A (p.Met485Ile)
c.240G>A (p.Met80Ile)
n.343G>A
n.778-7366C>T
 ClinVar dbSNP gnomAD v4
11g.2847808G>CCA379140259KCNQ1,KCNQ1-AS1c.1479G>C (p.Met493Ile)
c.1836G>C (p.Met612Ile)
c.1455G>C (p.Met485Ile)
c.240G>C (p.Met80Ile)
n.343G>C
n.778-7366C>G
11g.2847808G=CA1948349604KCNQ1,KCNQ1-AS1c.1479G= (p.Met493=)
c.1836G= (p.Met612=)
c.1455G= (p.Met485=)
c.240G= (p.Met80=)
n.343G=
n.778-7366C=
11g.2847808G>TCA379140260KCNQ1,KCNQ1-AS1c.1479G>T (p.Met493Ile)
c.1836G>T (p.Met612Ile)
c.1455G>T (p.Met485Ile)
c.240G>T (p.Met80Ile)
n.343G>T
n.778-7366C>A
 gnomAD v4
11g.2847809C>ACA379140262KCNQ1,KCNQ1-AS1c.1480C>A (p.Leu494Ile)
c.1837C>A (p.Leu613Ile)
c.1456C>A (p.Leu486Ile)
c.241C>A (p.Leu81Ile)
n.344C>A
n.778-7367G>T
 gnomAD v4
11g.2847809C=CA1948349605KCNQ1,KCNQ1-AS1c.1480C= (p.Leu494=)
c.1837C= (p.Leu613=)
c.1456C= (p.Leu486=)
c.241C= (p.Leu81=)
n.344C=
n.778-7367G=
11g.2847809C>GCA379140261KCNQ1,KCNQ1-AS1c.1480C>G (p.Leu494Val)
c.1837C>G (p.Leu613Val)
c.1456C>G (p.Leu486Val)
c.241C>G (p.Leu81Val)
n.344C>G
n.778-7367G>C
11g.2847809C>TCA033320KCNQ1,KCNQ1-AS1c.1480C>T (p.Leu494Phe)
c.1837C>T (p.Leu613Phe)
c.1456C>T (p.Leu486Phe)
c.241C>T (p.Leu81Phe)
n.344C>T
n.778-7367G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847810T>ACA379140263KCNQ1,KCNQ1-AS1c.1481T>A (p.Leu494His)
c.1838T>A (p.Leu613His)
c.1457T>A (p.Leu486His)
c.242T>A (p.Leu81His)
n.345T>A
n.778-7368A>T
 gnomAD v4
11g.2847810T>CCA379140264KCNQ1,KCNQ1-AS1c.1481T>C (p.Leu494Pro)
c.1838T>C (p.Leu613Pro)
c.1457T>C (p.Leu486Pro)
c.242T>C (p.Leu81Pro)
n.345T>C
n.778-7368A>G
 ClinVar dbSNP gnomAD v4
11g.2847810T>GCA379140265KCNQ1,KCNQ1-AS1c.1481T>G (p.Leu494Arg)
c.1838T>G (p.Leu613Arg)
c.1457T>G (p.Leu486Arg)
c.242T>G (p.Leu81Arg)
n.345T>G
n.778-7368A>C
11g.2847810T=CA1948349606KCNQ1,KCNQ1-AS1c.1481T= (p.Leu494=)
c.1838T= (p.Leu613=)
c.1457T= (p.Leu486=)
c.242T= (p.Leu81=)
n.345T=
n.778-7368A=
11g.2847811T>ACA472466225KCNQ1,KCNQ1-AS1c.1482T>A (p.Leu494=)
c.1839T>A (p.Leu613=)
c.1458T>A (p.Leu486=)
c.243T>A (p.Leu81=)
n.346T>A
n.778-7369A>T
 ClinVar gnomAD v4
11g.2847811T>CCA472466228KCNQ1,KCNQ1-AS1c.1482T>C (p.Leu494=)
c.1839T>C (p.Leu613=)
c.1458T>C (p.Leu486=)
c.243T>C (p.Leu81=)
n.346T>C
n.778-7369A>G
 gnomAD v4
11g.2847811T>GCA472466230KCNQ1,KCNQ1-AS1c.1482T>G (p.Leu494=)
c.1839T>G (p.Leu613=)
c.1458T>G (p.Leu486=)
c.243T>G (p.Leu81=)
n.346T>G
n.778-7369A>C
11g.2847811_2847814delinsTCACCA1948349607KCNQ1,KCNQ1-AS1c.1482_1485delinsTCAC (p.Leu494=)
c.1839_1842delinsTCAC (p.Leu613=)
c.1458_1461delinsTCAC (p.Leu486=)
c.243_246delinsTCAC (p.Leu81=)
n.346_349delinsTCAC
n.778-7372_778-7369delinsGTGA
11g.2847812C>ACA379140266KCNQ1,KCNQ1-AS1c.1483C>A (p.His495Asn)
c.1840C>A (p.His614Asn)
c.1459C>A (p.His487Asn)
c.244C>A (p.His82Asn)
n.347C>A
n.778-7370G>T
 gnomAD v4
11g.2847812C=CA1948349608KCNQ1,KCNQ1-AS1c.1483C= (p.His495=)
c.1840C= (p.His614=)
c.1459C= (p.His487=)
c.244C= (p.His82=)
n.347C=
n.778-7370G=
11g.2847812C>GCA379140267KCNQ1,KCNQ1-AS1c.1483C>G (p.His495Asp)
c.1840C>G (p.His614Asp)
c.1459C>G (p.His487Asp)
c.244C>G (p.His82Asp)
n.347C>G
n.778-7370G>C
11g.2847812C>TCA379140268KCNQ1,KCNQ1-AS1c.1483C>T (p.His495Tyr)
c.1840C>T (p.His614Tyr)
c.1459C>T (p.His487Tyr)
c.244C>T (p.His82Tyr)
n.347C>T
n.778-7370G>A
 dbSNP
11g.2847814_2847816delCA006491KCNQ1,KCNQ1-AS1c.1485_1487del (p.His495del)
c.1842_1844del (p.His614del)
c.1461_1463del (p.His487del)
c.246_248del (p.His82del)
n.349_351del
n.778-7372_778-7370del
 ClinVar dbSNP
11g.2847813A>CCA379140269KCNQ1,KCNQ1-AS1c.1484A>C (p.His495Pro)
c.1841A>C (p.His614Pro)
c.1460A>C (p.His487Pro)
c.245A>C (p.His82Pro)
n.348A>C
n.778-7371T>G
11g.2847813A>GCA379140271KCNQ1,KCNQ1-AS1c.1484A>G (p.His495Arg)
c.1841A>G (p.His614Arg)
c.1460A>G (p.His487Arg)
c.245A>G (p.His82Arg)
n.348A>G
n.778-7371T>C
11g.2847813A>TCA379140270KCNQ1,KCNQ1-AS1c.1484A>T (p.His495Leu)
c.1841A>T (p.His614Leu)
c.1460A>T (p.His487Leu)
c.245A>T (p.His82Leu)
n.348A>T
n.778-7371T>A
 ClinVar
11g.2847814C>ACA379140272KCNQ1,KCNQ1-AS1c.1485C>A (p.His495Gln)
c.1842C>A (p.His614Gln)
c.1461C>A (p.His487Gln)
c.246C>A (p.His82Gln)
n.349C>A
n.778-7372G>T
 gnomAD v4
11g.2847814C>GCA379140273KCNQ1,KCNQ1-AS1c.1485C>G (p.His495Gln)
c.1842C>G (p.His614Gln)
c.1461C>G (p.His487Gln)
c.246C>G (p.His82Gln)
n.349C>G
n.778-7372G>C
11g.2847814C>TCA472466243KCNQ1,KCNQ1-AS1c.1485C>T (p.His495=)
c.1842C>T (p.His614=)
c.1461C>T (p.His487=)
c.246C>T (p.His82=)
n.349C>T
n.778-7372G>A
 gnomAD v4
11g.2847815C>ACA379140274KCNQ1,KCNQ1-AS1c.1486C>A (p.Gln496Lys)
c.1843C>A (p.Gln615Lys)
c.1462C>A (p.Gln488Lys)
c.247C>A (p.Gln83Lys)
n.350C>A
n.778-7373G>T
 gnomAD v4
11g.2847815C>GCA379140275KCNQ1,KCNQ1-AS1c.1486C>G (p.Gln496Glu)
c.1843C>G (p.Gln615Glu)
c.1462C>G (p.Gln488Glu)
c.247C>G (p.Gln83Glu)
n.350C>G
n.778-7373G>C
11g.2847815C>TCA379140276KCNQ1,KCNQ1-AS1c.1486C>T (p.Gln496Ter)
c.1843C>T (p.Gln615Ter)
c.1462C>T (p.Gln488Ter)
c.247C>T (p.Gln83Ter)
n.350C>T
n.778-7373G>A
11g.2847816A=CA1948349609KCNQ1,KCNQ1-AS1c.1487A= (p.Gln496=)
c.1844A= (p.Gln615=)
c.1463A= (p.Gln488=)
c.248A= (p.Gln83=)
n.351A=
n.778-7374T=
11g.2847816A>CCA379140277KCNQ1,KCNQ1-AS1c.1487A>C (p.Gln496Pro)
c.1844A>C (p.Gln615Pro)
c.1463A>C (p.Gln488Pro)
c.248A>C (p.Gln83Pro)
n.351A>C
n.778-7374T>G
 ClinVar
11g.2847816A>GCA379140278KCNQ1,KCNQ1-AS1c.1487A>G (p.Gln496Arg)
c.1844A>G (p.Gln615Arg)
c.1463A>G (p.Gln488Arg)
c.248A>G (p.Gln83Arg)
n.351A>G
n.778-7374T>C
 ClinVar dbSNP gnomAD v4
11g.2847816A>TCA379140279KCNQ1,KCNQ1-AS1c.1487A>T (p.Gln496Leu)
c.1844A>T (p.Gln615Leu)
c.1463A>T (p.Gln488Leu)
c.248A>T (p.Gln83Leu)
n.351A>T
n.778-7374T>A
11g.2847817G>ACA472466257KCNQ1,KCNQ1-AS1c.1488G>A (p.Gln496=)
c.1845G>A (p.Gln615=)
c.1464G>A (p.Gln488=)
c.249G>A (p.Gln83=)
n.352G>A
n.778-7375C>T
 gnomAD v4
11g.2847817G>CCA379140280KCNQ1,KCNQ1-AS1c.1488G>C (p.Gln496His)
c.1845G>C (p.Gln615His)
c.1464G>C (p.Gln488His)
c.249G>C (p.Gln83His)
n.352G>C
n.778-7375C>G
11g.2847817G>TCA379140281KCNQ1,KCNQ1-AS1c.1488G>T (p.Gln496His)
c.1845G>T (p.Gln615His)
c.1464G>T (p.Gln488His)
c.249G>T (p.Gln83His)
n.352G>T
n.778-7375C>A
 ClinVar gnomAD v4
11g.2847820_2847822dupCA2612011183KCNQ1,KCNQ1-AS1c.1491_1493dup (p.Leu498_Ser499insLeu)
c.1848_1850dup (p.Leu617_Ser618insLeu)
c.1467_1469dup (p.Leu490_Ser491insLeu)
c.252_254dup (p.Leu85_Ser86insLeu)
n.355_357dup
n.778-7377_778-7375dup
 gnomAD v4
11g.2847818C>ACA379140283KCNQ1,KCNQ1-AS1c.1489C>A (p.Leu497Met)
c.1846C>A (p.Leu616Met)
c.1465C>A (p.Leu489Met)
c.250C>A (p.Leu84Met)
n.353C>A
n.778-7376G>T
 gnomAD v4
11g.2847818C>GCA379140282KCNQ1,KCNQ1-AS1c.1489C>G (p.Leu497Val)
c.1846C>G (p.Leu616Val)
c.1465C>G (p.Leu489Val)
c.250C>G (p.Leu84Val)
n.353C>G
n.778-7376G>C
11g.2847818C>TCA472466267KCNQ1,KCNQ1-AS1c.1489C>T (p.Leu497=)
c.1846C>T (p.Leu616=)
c.1465C>T (p.Leu489=)
c.250C>T (p.Leu84=)
n.353C>T
n.778-7376G>A
 ClinVar gnomAD v4
11g.2847819T>ACA379140284KCNQ1,KCNQ1-AS1c.1490T>A (p.Leu497Gln)
c.1847T>A (p.Leu616Gln)
c.1466T>A (p.Leu489Gln)
c.251T>A (p.Leu84Gln)
n.354T>A
n.778-7377A>T
11g.2847819T>CCA379140285KCNQ1,KCNQ1-AS1c.1490T>C (p.Leu497Pro)
c.1847T>C (p.Leu616Pro)
c.1466T>C (p.Leu489Pro)
c.251T>C (p.Leu84Pro)
n.354T>C
n.778-7377A>G
11g.2847819T>GCA379140286KCNQ1,KCNQ1-AS1c.1490T>G (p.Leu497Arg)
c.1847T>G (p.Leu616Arg)
c.1466T>G (p.Leu489Arg)
c.251T>G (p.Leu84Arg)
n.354T>G
n.778-7377A>C
11g.2847820G>ACA033346KCNQ1,KCNQ1-AS1c.1491G>A (p.Leu497=)
c.1848G>A (p.Leu616=)
c.1467G>A (p.Leu489=)
c.252G>A (p.Leu84=)
n.355G>A
n.778-7378C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847820G>CCA472466282KCNQ1,KCNQ1-AS1c.1491G>C (p.Leu497=)
c.1848G>C (p.Leu616=)
c.1467G>C (p.Leu489=)
c.252G>C (p.Leu84=)
n.355G>C
n.778-7378C>G
11g.2847820G=CA1948349610KCNQ1,KCNQ1-AS1c.1491G= (p.Leu497=)
c.1848G= (p.Leu616=)
c.1467G= (p.Leu489=)
c.252G= (p.Leu84=)
n.355G=
n.778-7378C=
11g.2847820G>TCA472466283KCNQ1,KCNQ1-AS1c.1491G>T (p.Leu497=)
c.1848G>T (p.Leu616=)
c.1467G>T (p.Leu489=)
c.252G>T (p.Leu84=)
n.355G>T
n.778-7378C>A
 gnomAD v4
11g.2847821C>ACA379140287KCNQ1,KCNQ1-AS1c.1492C>A (p.Leu498Ile)
c.1849C>A (p.Leu617Ile)
c.1468C>A (p.Leu490Ile)
c.253C>A (p.Leu85Ile)
n.356C>A
n.778-7379G>T
 gnomAD v4
11g.2847821C=CA1948349611KCNQ1,KCNQ1-AS1c.1492C= (p.Leu498=)
c.1849C= (p.Leu617=)
c.1468C= (p.Leu490=)
c.253C= (p.Leu85=)
n.356C=
n.778-7379G=
11g.2847821C>GCA379140288KCNQ1,KCNQ1-AS1c.1492C>G (p.Leu498Val)
c.1849C>G (p.Leu617Val)
c.1468C>G (p.Leu490Val)
c.253C>G (p.Leu85Val)
n.356C>G
n.778-7379G>C
11g.2847821C>TCA379140289KCNQ1,KCNQ1-AS1c.1492C>T (p.Leu498Phe)
c.1849C>T (p.Leu617Phe)
c.1468C>T (p.Leu490Phe)
c.253C>T (p.Leu85Phe)
n.356C>T
n.778-7379G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2847822T>ACA379140290KCNQ1,KCNQ1-AS1c.1493T>A (p.Leu498His)
c.1850T>A (p.Leu617His)
c.1469T>A (p.Leu490His)
c.254T>A (p.Leu85His)
n.357T>A
n.778-7380A>T
11g.2847822T>CCA379140291KCNQ1,KCNQ1-AS1c.1493T>C (p.Leu498Pro)
c.1850T>C (p.Leu617Pro)
c.1469T>C (p.Leu490Pro)
c.254T>C (p.Leu85Pro)
n.357T>C
n.778-7380A>G
 gnomAD v4
11g.2847822T>GCA379140292KCNQ1,KCNQ1-AS1c.1493T>G (p.Leu498Arg)
c.1850T>G (p.Leu617Arg)
c.1469T>G (p.Leu490Arg)
c.254T>G (p.Leu85Arg)
n.357T>G
n.778-7380A>C
11g.2847823C>ACA472466315KCNQ1,KCNQ1-AS1c.1494C>A (p.Leu498=)
c.1851C>A (p.Leu617=)
c.1470C>A (p.Leu490=)
c.255C>A (p.Leu85=)
n.358C>A
n.778-7381G>T
 gnomAD v4
11g.2847823C=CA1948349612KCNQ1,KCNQ1-AS1c.1494C= (p.Leu498=)
c.1851C= (p.Leu617=)
c.1470C= (p.Leu490=)
c.255C= (p.Leu85=)
n.358C=
n.778-7381G=
11g.2847823C>GCA472466317KCNQ1,KCNQ1-AS1c.1494C>G (p.Leu498=)
c.1851C>G (p.Leu617=)
c.1470C>G (p.Leu490=)
c.255C>G (p.Leu85=)
n.358C>G
n.778-7381G>C
11g.2847823C>TCA216345078KCNQ1,KCNQ1-AS1c.1494C>T (p.Leu498=)
c.1851C>T (p.Leu617=)
c.1470C>T (p.Leu490=)
c.255C>T (p.Leu85=)
n.358C>T
n.778-7381G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847824delCA645569416KCNQ1,KCNQ1-AS1c.1495del (p.Ser499ProfsTer?)
c.1852del (p.Ser618ProfsTer?)
c.1471del (p.Ser491ProfsTer?)
c.256del (p.Ser86ProfsTer?)
n.359del
n.778-7382del
 COSMIC COSMIC
11g.2847824T>ACA379140293KCNQ1,KCNQ1-AS1c.1495T>A (p.Ser499Thr)
c.1852T>A (p.Ser618Thr)
c.1471T>A (p.Ser491Thr)
c.256T>A (p.Ser86Thr)
n.359T>A
n.778-7382A>T
11g.2847824T>CCA379140294KCNQ1,KCNQ1-AS1c.1495T>C (p.Ser499Pro)
c.1852T>C (p.Ser618Pro)
c.1471T>C (p.Ser491Pro)
c.256T>C (p.Ser86Pro)
n.359T>C
n.778-7382A>G
11g.2847824T>GCA379140295KCNQ1,KCNQ1-AS1c.1495T>G (p.Ser499Ala)
c.1852T>G (p.Ser618Ala)
c.1471T>G (p.Ser491Ala)
c.256T>G (p.Ser86Ala)
n.359T>G
n.778-7382A>C
11g.2847825C>ACA379140297KCNQ1,KCNQ1-AS1c.1496C>A (p.Ser499Tyr)
c.1853C>A (p.Ser618Tyr)
c.1472C>A (p.Ser491Tyr)
c.257C>A (p.Ser86Tyr)
n.360C>A
n.778-7383G>T
11g.2847825C=CA1948349613KCNQ1,KCNQ1-AS1c.1496C= (p.Ser499=)
c.1853C= (p.Ser618=)
c.1472C= (p.Ser491=)
c.257C= (p.Ser86=)
n.360C=
n.778-7383G=
11g.2847825C>GCA379140298KCNQ1,KCNQ1-AS1c.1496C>G (p.Ser499Cys)
c.1853C>G (p.Ser618Cys)
c.1472C>G (p.Ser491Cys)
c.257C>G (p.Ser86Cys)
n.360C>G
n.778-7383G>C
11g.2847825C>TCA379140296KCNQ1,KCNQ1-AS1c.1496C>T (p.Ser499Phe)
c.1853C>T (p.Ser618Phe)
c.1472C>T (p.Ser491Phe)
c.257C>T (p.Ser86Phe)
n.360C>T
n.778-7383G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847826C>ACA472466322KCNQ1,KCNQ1-AS1c.1497C>A (p.Ser499=)
c.1854C>A (p.Ser618=)
c.1473C>A (p.Ser491=)
c.258C>A (p.Ser86=)
n.361C>A
n.778-7384G>T
 gnomAD v4
11g.2847826C=CA1948349614KCNQ1,KCNQ1-AS1c.1497C= (p.Ser499=)
c.1854C= (p.Ser618=)
c.1473C= (p.Ser491=)
c.258C= (p.Ser86=)
n.361C=
n.778-7384G=
11g.2847826C>GCA472466324KCNQ1,KCNQ1-AS1c.1497C>G (p.Ser499=)
c.1854C>G (p.Ser618=)
c.1473C>G (p.Ser491=)
c.258C>G (p.Ser86=)
n.361C>G
n.778-7384G>C
11g.2847826C>TCA033369KCNQ1,KCNQ1-AS1c.1497C>T (p.Ser499=)
c.1854C>T (p.Ser618=)
c.1473C>T (p.Ser491=)
c.258C>T (p.Ser86=)
n.361C>T
n.778-7384G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847827T>ACA006511KCNQ1,KCNQ1-AS1c.1498T>A (p.Leu500Met)
c.1855T>A (p.Leu619Met)
c.1474T>A (p.Leu492Met)
c.259T>A (p.Leu87Met)
n.362T>A
n.778-7385A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847827T>CCA472466328KCNQ1,KCNQ1-AS1c.1498T>C (p.Leu500=)
c.1855T>C (p.Leu619=)
c.1474T>C (p.Leu492=)
c.259T>C (p.Leu87=)
n.362T>C
n.778-7385A>G
 gnomAD v4
11g.2847827T>GCA379140299KCNQ1,KCNQ1-AS1c.1498T>G (p.Leu500Val)
c.1855T>G (p.Leu619Val)
c.1474T>G (p.Leu492Val)
c.259T>G (p.Leu87Val)
n.362T>G
n.778-7385A>C
11g.2847827T=CA1948349615KCNQ1,KCNQ1-AS1c.1498T= (p.Leu500=)
c.1855T= (p.Leu619=)
c.1474T= (p.Leu492=)
c.259T= (p.Leu87=)
n.362T=
n.778-7385A=
11g.2847828T>ACA379140300KCNQ1,KCNQ1-AS1c.1499T>A (p.Leu500Ter)
c.1856T>A (p.Leu619Ter)
c.1475T>A (p.Leu492Ter)
c.260T>A (p.Leu87Ter)
n.363T>A
n.778-7386A>T
11g.2847828T>CCA379140301KCNQ1,KCNQ1-AS1c.1499T>C (p.Leu500Ser)
c.1856T>C (p.Leu619Ser)
c.1475T>C (p.Leu492Ser)
c.260T>C (p.Leu87Ser)
n.363T>C
n.778-7386A>G
 ClinVar gnomAD v4
11g.2847828T>GCA379140302KCNQ1,KCNQ1-AS1c.1499T>G (p.Leu500Trp)
c.1856T>G (p.Leu619Trp)
c.1475T>G (p.Leu492Trp)
c.260T>G (p.Leu87Trp)
n.363T>G
n.778-7386A>C
11g.2847829G>ACA472466342KCNQ1,KCNQ1-AS1c.1500G>A (p.Leu500=)
c.1857G>A (p.Leu619=)
c.1476G>A (p.Leu492=)
c.261G>A (p.Leu87=)
n.364G>A
n.778-7387C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847829G>CCA379140303KCNQ1,KCNQ1-AS1c.1500G>C (p.Leu500Phe)
c.1857G>C (p.Leu619Phe)
c.1476G>C (p.Leu492Phe)
c.261G>C (p.Leu87Phe)
n.364G>C
n.778-7387C>G
 gnomAD v4
11g.2847829G=CA1948349616KCNQ1,KCNQ1-AS1c.1500G= (p.Leu500=)
c.1857G= (p.Leu619=)
c.1476G= (p.Leu492=)
c.261G= (p.Leu87=)
n.364G=
n.778-7387C=
11g.2847829G>TCA379140304KCNQ1,KCNQ1-AS1c.1500G>T (p.Leu500Phe)
c.1857G>T (p.Leu619Phe)
c.1476G>T (p.Leu492Phe)
c.261G>T (p.Leu87Phe)
n.364G>T
n.778-7387C>A
 gnomAD v4
11g.2847830C>ACA379140305KCNQ1,KCNQ1-AS1c.1501C>A (p.His501Asn)
c.1858C>A (p.His620Asn)
c.1477C>A (p.His493Asn)
c.262C>A (p.His88Asn)
n.365C>A
n.778-7388G>T
11g.2847830C>GCA379140306KCNQ1,KCNQ1-AS1c.1501C>G (p.His501Asp)
c.1858C>G (p.His620Asp)
c.1477C>G (p.His493Asp)
c.262C>G (p.His88Asp)
n.365C>G
n.778-7388G>C
 ClinVar dbSNP
11g.2847830C>TCA379140307KCNQ1,KCNQ1-AS1c.1501C>T (p.His501Tyr)
c.1858C>T (p.His620Tyr)
c.1477C>T (p.His493Tyr)
c.262C>T (p.His88Tyr)
n.365C>T
n.778-7388G>A
 gnomAD v4
11g.2847831A=CA1948349617KCNQ1,KCNQ1-AS1c.1502A= (p.His501=)
c.1859A= (p.His620=)
c.1478A= (p.His493=)
c.263A= (p.His88=)
n.366A=
n.778-7389T=
11g.2847831A>CCA379140308KCNQ1,KCNQ1-AS1c.1502A>C (p.His501Pro)
c.1859A>C (p.His620Pro)
c.1478A>C (p.His493Pro)
c.263A>C (p.His88Pro)
n.366A>C
n.778-7389T>G
11g.2847831A>GCA379140309KCNQ1,KCNQ1-AS1c.1502A>G (p.His501Arg)
c.1859A>G (p.His620Arg)
c.1478A>G (p.His493Arg)
c.263A>G (p.His88Arg)
n.366A>G
n.778-7389T>C
 gnomAD v4
11g.2847831A>TCA379140310KCNQ1,KCNQ1-AS1c.1502A>T (p.His501Leu)
c.1859A>T (p.His620Leu)
c.1478A>T (p.His493Leu)
c.263A>T (p.His88Leu)
n.366A>T
n.778-7389T>A
11g.2847832C>ACA379140311KCNQ1,KCNQ1-AS1c.1503C>A (p.His501Gln)
c.1860C>A (p.His620Gln)
c.1479C>A (p.His493Gln)
c.264C>A (p.His88Gln)
n.367C>A
n.778-7390G>T
 gnomAD v4
11g.2847832C=CA1948349618KCNQ1,KCNQ1-AS1c.1503C= (p.His501=)
c.1860C= (p.His620=)
c.1479C= (p.His493=)
c.264C= (p.His88=)
n.367C=
n.778-7390G=
11g.2847832C>GCA379140312KCNQ1,KCNQ1-AS1c.1503C>G (p.His501Gln)
c.1860C>G (p.His620Gln)
c.1479C>G (p.His493Gln)
c.264C>G (p.His88Gln)
n.367C>G
n.778-7390G>C
11g.2847832C>TCA006519KCNQ1,KCNQ1-AS1c.1503C>T (p.His501=)
c.1860C>T (p.His620=)
c.1479C>T (p.His493=)
c.264C>T (p.His88=)
n.367C>T
n.778-7390G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.2847833G>ACA006526KCNQ1,KCNQ1-AS1c.1504G>A (p.Gly502Ser)
c.1861G>A (p.Gly621Ser)
c.1480G>A (p.Gly494Ser)
c.265G>A (p.Gly89Ser)
n.368G>A
n.778-7391C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847833G>CCA379140313KCNQ1,KCNQ1-AS1c.1504G>C (p.Gly502Arg)
c.1861G>C (p.Gly621Arg)
c.1480G>C (p.Gly494Arg)
c.265G>C (p.Gly89Arg)
n.368G>C
n.778-7391C>G
 gnomAD v4
11g.2847833G=CA1948349619KCNQ1,KCNQ1-AS1c.1504G= (p.Gly502=)
c.1861G= (p.Gly621=)
c.1480G= (p.Gly494=)
c.265G= (p.Gly89=)
n.368G=
n.778-7391C=
11g.2847833G>TCA379140314KCNQ1,KCNQ1-AS1c.1504G>T (p.Gly502Cys)
c.1861G>T (p.Gly621Cys)
c.1480G>T (p.Gly494Cys)
c.265G>T (p.Gly89Cys)
n.368G>T
n.778-7391C>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847834dupCA2574728562KCNQ1,KCNQ1-AS1c.1505dup (p.Gly503TrpfsTer30)
c.1862dup (p.Gly622TrpfsTer30)
c.1481dup (p.Gly495TrpfsTer30)
c.266dup (p.Gly90TrpfsTer30)
n.369dup
n.778-7391dup
11g.2847834G>ACA379140315KCNQ1,KCNQ1-AS1c.1505G>A (p.Gly502Asp)
c.1862G>A (p.Gly621Asp)
c.1481G>A (p.Gly494Asp)
c.266G>A (p.Gly89Asp)
n.369G>A
n.778-7392C>T
 ClinVar dbSNP gnomAD v4
11g.2847834G>CCA379140317KCNQ1,KCNQ1-AS1c.1505G>C (p.Gly502Ala)
c.1862G>C (p.Gly621Ala)
c.1481G>C (p.Gly494Ala)
c.266G>C (p.Gly89Ala)
n.369G>C
n.778-7392C>G
 gnomAD v4
11g.2847834G=CA1948349620KCNQ1,KCNQ1-AS1c.1505G= (p.Gly502=)
c.1862G= (p.Gly621=)
c.1481G= (p.Gly494=)
c.266G= (p.Gly89=)
n.369G=
n.778-7392C=
11g.2847834G>TCA379140316KCNQ1,KCNQ1-AS1c.1505G>T (p.Gly502Val)
c.1862G>T (p.Gly621Val)
c.1481G>T (p.Gly494Val)
c.266G>T (p.Gly89Val)
n.369G>T
n.778-7392C>A
11g.2847834_2847845dupCA2612011237KCNQ1,KCNQ1-AS1c.1505_1516dup (p.Thr505_Pro506insArgGlySerThr)
c.1862_1873dup (p.Thr624_Pro625insArgGlySerThr)
c.1481_1492dup (p.Thr497_Pro498insArgGlySerThr)
c.266_277dup (p.Thr92_Pro93insArgGlySerThr)
n.369_380dup
n.778-7403_778-7392dup
 dbSNP gnomAD v4
11g.2847835T>ACA472466376KCNQ1,KCNQ1-AS1c.1506T>A (p.Gly502=)
c.1863T>A (p.Gly621=)
c.1482T>A (p.Gly494=)
c.267T>A (p.Gly89=)
n.370T>A
n.778-7393A>T
 gnomAD v4
11g.2847835T>CCA472466378KCNQ1,KCNQ1-AS1c.1506T>C (p.Gly502=)
c.1863T>C (p.Gly621=)
c.1482T>C (p.Gly494=)
c.267T>C (p.Gly89=)
n.370T>C
n.778-7393A>G
11g.2847835T>GCA472466380KCNQ1,KCNQ1-AS1c.1506T>G (p.Gly502=)
c.1863T>G (p.Gly621=)
c.1482T>G (p.Gly494=)
c.267T>G (p.Gly89=)
n.370T>G
n.778-7393A>C
11g.2847836G>ACA379140318KCNQ1,KCNQ1-AS1c.1507G>A (p.Gly503Ser)
c.1864G>A (p.Gly622Ser)
c.1483G>A (p.Gly495Ser)
c.268G>A (p.Gly90Ser)
n.371G>A
n.778-7394C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847836G>CCA379140320KCNQ1,KCNQ1-AS1c.1507G>C (p.Gly503Arg)
c.1864G>C (p.Gly622Arg)
c.1483G>C (p.Gly495Arg)
c.268G>C (p.Gly90Arg)
n.371G>C
n.778-7394C>G
11g.2847836G=CA1948349621KCNQ1,KCNQ1-AS1c.1507G= (p.Gly503=)
c.1864G= (p.Gly622=)
c.1483G= (p.Gly495=)
c.268G= (p.Gly90=)
n.371G=
n.778-7394C=
11g.2847836G>TCA379140319KCNQ1,KCNQ1-AS1c.1507G>T (p.Gly503Cys)
c.1864G>T (p.Gly622Cys)
c.1483G>T (p.Gly495Cys)
c.268G>T (p.Gly90Cys)
n.371G>T
n.778-7394C>A
 gnomAD v4
11g.2847837G>ACA379140321KCNQ1,KCNQ1-AS1c.1508G>A (p.Gly503Asp)
c.1865G>A (p.Gly622Asp)
c.1484G>A (p.Gly495Asp)
c.269G>A (p.Gly90Asp)
n.372G>A
n.778-7395C>T
 gnomAD v4
11g.2847837G>CCA379140323KCNQ1,KCNQ1-AS1c.1508G>C (p.Gly503Ala)
c.1865G>C (p.Gly622Ala)
c.1484G>C (p.Gly495Ala)
c.269G>C (p.Gly90Ala)
n.372G>C
n.778-7395C>G
11g.2847837G>TCA379140322KCNQ1,KCNQ1-AS1c.1508G>T (p.Gly503Val)
c.1865G>T (p.Gly622Val)
c.1484G>T (p.Gly495Val)
c.269G>T (p.Gly90Val)
n.372G>T
n.778-7395C>A
 gnomAD v4
11g.2847838C>ACA472466404KCNQ1,KCNQ1-AS1c.1509C>A (p.Gly503=)
c.1866C>A (p.Gly622=)
c.1485C>A (p.Gly495=)
c.270C>A (p.Gly90=)
n.373C>A
n.778-7396G>T
 gnomAD v4
11g.2847838C=CA1948349622KCNQ1,KCNQ1-AS1c.1509C= (p.Gly503=)
c.1866C= (p.Gly622=)
c.1485C= (p.Gly495=)
c.270C= (p.Gly90=)
n.373C=
n.778-7396G=
11g.2847838C>GCA472466408KCNQ1,KCNQ1-AS1c.1509C>G (p.Gly503=)
c.1866C>G (p.Gly622=)
c.1485C>G (p.Gly495=)
c.270C>G (p.Gly90=)
n.373C>G
n.778-7396G>C
11g.2847838C>TCA472466410KCNQ1,KCNQ1-AS1c.1509C>T (p.Gly503=)
c.1866C>T (p.Gly622=)
c.1485C>T (p.Gly495=)
c.270C>T (p.Gly90=)
n.373C>T
n.778-7396G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847839A>CCA379140324KCNQ1,KCNQ1-AS1c.1510A>C (p.Ser504Arg)
c.1867A>C (p.Ser623Arg)
c.1486A>C (p.Ser496Arg)
c.271A>C (p.Ser91Arg)
n.374A>C
n.778-7397T>G
11g.2847839A>GCA379140326KCNQ1,KCNQ1-AS1c.1510A>G (p.Ser504Gly)
c.1867A>G (p.Ser623Gly)
c.1486A>G (p.Ser496Gly)
c.271A>G (p.Ser91Gly)
n.374A>G
n.778-7397T>C
 ClinVar gnomAD v4
11g.2847839A>TCA379140325KCNQ1,KCNQ1-AS1c.1510A>T (p.Ser504Cys)
c.1867A>T (p.Ser623Cys)
c.1486A>T (p.Ser496Cys)
c.271A>T (p.Ser91Cys)
n.374A>T
n.778-7397T>A
11g.2847840G>ACA379140327KCNQ1,KCNQ1-AS1c.1511G>A (p.Ser504Asn)
c.1868G>A (p.Ser623Asn)
c.1487G>A (p.Ser496Asn)
c.272G>A (p.Ser91Asn)
n.375G>A
n.778-7398C>T
 dbSNP gnomAD v4
11g.2847840G>CCA379140328KCNQ1,KCNQ1-AS1c.1511G>C (p.Ser504Thr)
c.1868G>C (p.Ser623Thr)
c.1487G>C (p.Ser496Thr)
c.272G>C (p.Ser91Thr)
n.375G>C
n.778-7398C>G
11g.2847840G=CA1948349623KCNQ1,KCNQ1-AS1c.1511G= (p.Ser504=)
c.1868G= (p.Ser623=)
c.1487G= (p.Ser496=)
c.272G= (p.Ser91=)
n.375G=
n.778-7398C=
11g.2847840G>TCA033431KCNQ1,KCNQ1-AS1c.1511G>T (p.Ser504Ile)
c.1868G>T (p.Ser623Ile)
c.1487G>T (p.Ser496Ile)
c.272G>T (p.Ser91Ile)
n.375G>T
n.778-7398C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847841C>ACA379140329KCNQ1,KCNQ1-AS1c.1512C>A (p.Ser504Arg)
c.1869C>A (p.Ser623Arg)
c.1488C>A (p.Ser496Arg)
c.273C>A (p.Ser91Arg)
n.376C>A
n.778-7399G>T
 gnomAD v4
11g.2847841C=CA1948349624KCNQ1,KCNQ1-AS1c.1512C= (p.Ser504=)
c.1869C= (p.Ser623=)
c.1488C= (p.Ser496=)
c.273C= (p.Ser91=)
n.376C=
n.778-7399G=
11g.2847841C>GCA379140330KCNQ1,KCNQ1-AS1c.1512C>G (p.Ser504Arg)
c.1869C>G (p.Ser623Arg)
c.1488C>G (p.Ser496Arg)
c.273C>G (p.Ser91Arg)
n.376C>G
n.778-7399G>C
11g.2847841C>TCA216345146KCNQ1,KCNQ1-AS1c.1512C>T (p.Ser504=)
c.1869C>T (p.Ser623=)
c.1488C>T (p.Ser496=)
c.273C>T (p.Ser91=)
n.376C>T
n.778-7399G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847842A=CA1948349626KCNQ1,KCNQ1-AS1c.1513A= (p.Thr505=)
c.1870A= (p.Thr624=)
c.1489A= (p.Thr497=)
c.274A= (p.Thr92=)
n.377A=
n.778-7400T=
11g.2847842A>CCA379140331KCNQ1,KCNQ1-AS1c.1513A>C (p.Thr505Pro)
c.1870A>C (p.Thr624Pro)
c.1489A>C (p.Thr497Pro)
c.274A>C (p.Thr92Pro)
n.377A>C
n.778-7400T>G
 dbSNP gnomAD v4
11g.2847842A>GCA379140332KCNQ1,KCNQ1-AS1c.1513A>G (p.Thr505Ala)
c.1870A>G (p.Thr624Ala)
c.1489A>G (p.Thr497Ala)
c.274A>G (p.Thr92Ala)
n.377A>G
n.778-7400T>C
 ClinVar dbSNP
11g.2847842A>TCA379140333KCNQ1,KCNQ1-AS1c.1513A>T (p.Thr505Ser)
c.1870A>T (p.Thr624Ser)
c.1489A>T (p.Thr497Ser)
c.274A>T (p.Thr92Ser)
n.377A>T
n.778-7400T>A
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.2847843C>ACA379140334KCNQ1,KCNQ1-AS1c.1514C>A (p.Thr505Asn)
c.1871C>A (p.Thr624Asn)
c.1490C>A (p.Thr497Asn)
c.275C>A (p.Thr92Asn)
n.378C>A
n.778-7401G>T
11g.2847843C=CA1948349627KCNQ1,KCNQ1-AS1c.1514C= (p.Thr505=)
c.1871C= (p.Thr624=)
c.1490C= (p.Thr497=)
c.275C= (p.Thr92=)
n.378C=
n.778-7401G=
11g.2847843C>GCA379140335KCNQ1,KCNQ1-AS1c.1514C>G (p.Thr505Ser)
c.1871C>G (p.Thr624Ser)
c.1490C>G (p.Thr497Ser)
c.275C>G (p.Thr92Ser)
n.378C>G
n.778-7401G>C
 gnomAD v4
11g.2847843C>TCA379140336KCNQ1,KCNQ1-AS1c.1514C>T (p.Thr505Ile)
c.1871C>T (p.Thr624Ile)
c.1490C>T (p.Thr497Ile)
c.275C>T (p.Thr92Ile)
n.378C>T
n.778-7401G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847847dupCA2573053486KCNQ1,KCNQ1-AS1c.1518dup (p.Gly507ArgfsTer26)
c.1875dup (p.Gly626ArgfsTer26)
c.1494dup (p.Gly499ArgfsTer26)
c.279dup (p.Gly94ArgfsTer26)
n.382dup
n.778-7401dup
 ClinVar dbSNP gnomAD v4
11g.2847847delCA472466439KCNQ1,KCNQ1-AS1c.1518del (p.Gly507AlafsTer?)
c.1875del (p.Gly626AlafsTer?)
c.1494del (p.Gly499AlafsTer?)
c.279del (p.Gly94AlafsTer?)
n.382del
n.778-7401del
 gnomAD v4 COSMIC COSMIC
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.2847844C>ACA472466446KCNQ1,KCNQ1-AS1c.1515C>A (p.Thr505=)
c.1872C>A (p.Thr624=)
c.1491C>A (p.Thr497=)
c.276C>A (p.Thr92=)
n.379C>A
n.778-7402G>T
 gnomAD v4
11g.2847844C>GCA472466449KCNQ1,KCNQ1-AS1c.1515C>G (p.Thr505=)
c.1872C>G (p.Thr624=)
c.1491C>G (p.Thr497=)
c.276C>G (p.Thr92=)
n.379C>G
n.778-7402G>C
11g.2847844C>TCA472466450KCNQ1,KCNQ1-AS1c.1515C>T (p.Thr505=)
c.1872C>T (p.Thr624=)
c.1491C>T (p.Thr497=)
c.276C>T (p.Thr92=)
n.379C>T
n.778-7402G>A
 ClinVar gnomAD v4
11g.2847845C>ACA379140339KCNQ1,KCNQ1-AS1c.1516C>A (p.Pro506Thr)
c.1873C>A (p.Pro625Thr)
c.1492C>A (p.Pro498Thr)
c.277C>A (p.Pro93Thr)
n.380C>A
n.778-7403G>T
 gnomAD v4
11g.2847845C>GCA379140338KCNQ1,KCNQ1-AS1c.1516C>G (p.Pro506Ala)
c.1873C>G (p.Pro625Ala)
c.1492C>G (p.Pro498Ala)
c.277C>G (p.Pro93Ala)
n.380C>G
n.778-7403G>C
11g.2847845C>TCA379140337KCNQ1,KCNQ1-AS1c.1516C>T (p.Pro506Ser)
c.1873C>T (p.Pro625Ser)
c.1492C>T (p.Pro498Ser)
c.277C>T (p.Pro93Ser)
n.380C>T
n.778-7403G>A
 gnomAD v4
11g.2847846C>ACA379140340KCNQ1,KCNQ1-AS1c.1517C>A (p.Pro506His)
c.1874C>A (p.Pro625His)
c.1493C>A (p.Pro498His)
c.278C>A (p.Pro93His)
n.381C>A
n.778-7404G>T
 gnomAD v4
11g.2847846C=CA1948349628KCNQ1,KCNQ1-AS1c.1517C= (p.Pro506=)
c.1874C= (p.Pro625=)
c.1493C= (p.Pro498=)
c.278C= (p.Pro93=)
n.381C=
n.778-7404G=
11g.2847846C>GCA033459KCNQ1,KCNQ1-AS1c.1517C>G (p.Pro506Arg)
c.1874C>G (p.Pro625Arg)
c.1493C>G (p.Pro498Arg)
c.278C>G (p.Pro93Arg)
n.381C>G
n.778-7404G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847846C>TCA379140341KCNQ1,KCNQ1-AS1c.1517C>T (p.Pro506Leu)
c.1874C>T (p.Pro625Leu)
c.1493C>T (p.Pro498Leu)
c.278C>T (p.Pro93Leu)
n.381C>T
n.778-7404G>A
 gnomAD v4 COSMIC COSMIC
11g.2847847C>ACA472466471KCNQ1,KCNQ1-AS1c.1518C>A (p.Pro506=)
c.1875C>A (p.Pro625=)
c.1494C>A (p.Pro498=)
c.279C>A (p.Pro93=)
n.382C>A
n.778-7405G>T
 gnomAD v4
11g.2847847C=CA1948349629KCNQ1,KCNQ1-AS1c.1518C= (p.Pro506=)
c.1875C= (p.Pro625=)
c.1494C= (p.Pro498=)
c.279C= (p.Pro93=)
n.382C=
n.778-7405G=
11g.2847847C>GCA033469KCNQ1,KCNQ1-AS1c.1518C>G (p.Pro506=)
c.1875C>G (p.Pro625=)
c.1494C>G (p.Pro498=)
c.279C>G (p.Pro93=)
n.382C>G
n.778-7405G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847847C>TCA033482KCNQ1,KCNQ1-AS1c.1518C>T (p.Pro506=)
c.1875C>T (p.Pro625=)
c.1494C>T (p.Pro498=)
c.279C>T (p.Pro93=)
n.382C>T
n.778-7405G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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
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

Number of alleles fetched