Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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
11g.2847952C>ACA472467008KCNQ1,KCNQ1-AS1c.1623C>A (p.Pro541=)
c.1980C>A (p.Pro660=)
c.1599C>A (p.Pro533=)
c.384C>A (p.Pro128=)
n.487C>A
n.778-7510G>T
 gnomAD v4
11g.2847952C>GCA472467009KCNQ1,KCNQ1-AS1c.1623C>G (p.Pro541=)
c.1980C>G (p.Pro660=)
c.1599C>G (p.Pro533=)
c.384C>G (p.Pro128=)
n.487C>G
n.778-7510G>C
11g.2847952C>TCA472467010KCNQ1,KCNQ1-AS1c.1623C>T (p.Pro541=)
c.1980C>T (p.Pro660=)
c.1599C>T (p.Pro533=)
c.384C>T (p.Pro128=)
n.487C>T
n.778-7510G>A
 gnomAD v4
11g.2847953A>CCA379140553KCNQ1,KCNQ1-AS1c.1624A>C (p.Thr542Pro)
c.1981A>C (p.Thr661Pro)
c.1600A>C (p.Thr534Pro)
c.385A>C (p.Thr129Pro)
n.488A>C
n.778-7511T>G
 gnomAD v4
11g.2847953A>GCA379140554KCNQ1,KCNQ1-AS1c.1624A>G (p.Thr542Ala)
c.1981A>G (p.Thr661Ala)
c.1600A>G (p.Thr534Ala)
c.385A>G (p.Thr129Ala)
n.488A>G
n.778-7511T>C
11g.2847953A>TCA379140555KCNQ1,KCNQ1-AS1c.1624A>T (p.Thr542Ser)
c.1981A>T (p.Thr661Ser)
c.1600A>T (p.Thr534Ser)
c.385A>T (p.Thr129Ser)
n.488A>T
n.778-7511T>A
 gnomAD v4
11g.2847954C>ACA379140556KCNQ1,KCNQ1-AS1c.1625C>A (p.Thr542Asn)
c.1982C>A (p.Thr661Asn)
c.1601C>A (p.Thr534Asn)
c.386C>A (p.Thr129Asn)
n.489C>A
n.778-7512G>T
 gnomAD v4
11g.2847954C=CA1948349709KCNQ1,KCNQ1-AS1c.1625C= (p.Thr542=)
c.1982C= (p.Thr661=)
c.1601C= (p.Thr534=)
c.386C= (p.Thr129=)
n.489C=
n.778-7512G=
11g.2847954C>GCA379140557KCNQ1,KCNQ1-AS1c.1625C>G (p.Thr542Ser)
c.1982C>G (p.Thr661Ser)
c.1601C>G (p.Thr534Ser)
c.386C>G (p.Thr129Ser)
n.489C>G
n.778-7512G>C
11g.2847954C>TCA379140558KCNQ1,KCNQ1-AS1c.1625C>T (p.Thr542Ile)
c.1982C>T (p.Thr661Ile)
c.1601C>T (p.Thr534Ile)
c.386C>T (p.Thr129Ile)
n.489C>T
n.778-7512G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847955C>ACA472467027KCNQ1,KCNQ1-AS1c.1626C>A (p.Thr542=)
c.1983C>A (p.Thr661=)
c.1602C>A (p.Thr534=)
c.387C>A (p.Thr129=)
n.490C>A
n.778-7513G>T
 dbSNP gnomAD v4
11g.2847955C=CA1948349710KCNQ1,KCNQ1-AS1c.1626C= (p.Thr542=)
c.1983C= (p.Thr661=)
c.1602C= (p.Thr534=)
c.387C= (p.Thr129=)
n.490C=
n.778-7513G=
11g.2847955C>GCA472467028KCNQ1,KCNQ1-AS1c.1626C>G (p.Thr542=)
c.1983C>G (p.Thr661=)
c.1602C>G (p.Thr534=)
c.387C>G (p.Thr129=)
n.490C>G
n.778-7513G>C
11g.2847955C>TCA472467025KCNQ1,KCNQ1-AS1c.1626C>T (p.Thr542=)
c.1983C>T (p.Thr661=)
c.1602C>T (p.Thr534=)
c.387C>T (p.Thr129=)
n.490C>T
n.778-7513G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847956T>ACA379140560KCNQ1,KCNQ1-AS1c.1627T>A (p.Tyr543Asn)
c.1984T>A (p.Tyr662Asn)
c.1603T>A (p.Tyr535Asn)
c.388T>A (p.Tyr130Asn)
n.491T>A
n.778-7514A>T
11g.2847956T>CCA379140561KCNQ1,KCNQ1-AS1c.1627T>C (p.Tyr543His)
c.1984T>C (p.Tyr662His)
c.1603T>C (p.Tyr535His)
c.388T>C (p.Tyr130His)
n.491T>C
n.778-7514A>G
 gnomAD v4
11g.2847956T>GCA379140559KCNQ1,KCNQ1-AS1c.1627T>G (p.Tyr543Asp)
c.1984T>G (p.Tyr662Asp)
c.1603T>G (p.Tyr535Asp)
c.388T>G (p.Tyr130Asp)
n.491T>G
n.778-7514A>C
11g.2847957A>CCA379140562KCNQ1,KCNQ1-AS1c.1628A>C (p.Tyr543Ser)
c.1985A>C (p.Tyr662Ser)
c.1604A>C (p.Tyr535Ser)
c.389A>C (p.Tyr130Ser)
n.492A>C
n.778-7515T>G
11g.2847957A>GCA379140563KCNQ1,KCNQ1-AS1c.1628A>G (p.Tyr543Cys)
c.1985A>G (p.Tyr662Cys)
c.1604A>G (p.Tyr535Cys)
c.389A>G (p.Tyr130Cys)
n.492A>G
n.778-7515T>C
11g.2847957A>TCA379140564KCNQ1,KCNQ1-AS1c.1628A>T (p.Tyr543Phe)
c.1985A>T (p.Tyr662Phe)
c.1604A>T (p.Tyr535Phe)
c.389A>T (p.Tyr130Phe)
n.492A>T
n.778-7515T>A
11g.2847958C>ACA379140565KCNQ1,KCNQ1-AS1c.1629C>A (p.Tyr543Ter)
c.1986C>A (p.Tyr662Ter)
c.1605C>A (p.Tyr535Ter)
c.390C>A (p.Tyr130Ter)
n.493C>A
n.778-7516G>T
 gnomAD v4
11g.2847958C=CA1630848563KCNQ1,KCNQ1-AS1c.1629C= (p.Tyr543=)
c.1986C= (p.Tyr662=)
c.1605C= (p.Tyr535=)
c.390C= (p.Tyr130=)
n.493C=
n.778-7516G=
11g.2847958C>GCA006628KCNQ1,KCNQ1-AS1c.1629C>G (p.Tyr543Ter)
c.1986C>G (p.Tyr662Ter)
c.1605C>G (p.Tyr535Ter)
c.390C>G (p.Tyr130Ter)
n.493C>G
n.778-7516G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847958C>TCA006636KCNQ1,KCNQ1-AS1c.1629C>T (p.Tyr543=)
c.1986C>T (p.Tyr662=)
c.1605C>T (p.Tyr535=)
c.390C>T (p.Tyr130=)
n.493C>T
n.778-7516G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847959G>ACA034124KCNQ1,KCNQ1-AS1c.1630G>A (p.Glu544Lys)
c.1987G>A (p.Glu663Lys)
c.1606G>A (p.Glu536Lys)
c.391G>A (p.Glu131Lys)
n.494G>A
n.778-7517C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847959G>CCA379140566KCNQ1,KCNQ1-AS1c.1630G>C (p.Glu544Gln)
c.1987G>C (p.Glu663Gln)
c.1606G>C (p.Glu536Gln)
c.391G>C (p.Glu131Gln)
n.494G>C
n.778-7517C>G
 gnomAD v4
11g.2847959G=CA1948349711KCNQ1,KCNQ1-AS1c.1630G= (p.Glu544=)
c.1987G= (p.Glu663=)
c.1606G= (p.Glu536=)
c.391G= (p.Glu131=)
n.494G=
n.778-7517C=
11g.2847959G>TCA379140567KCNQ1,KCNQ1-AS1c.1630G>T (p.Glu544Ter)
c.1987G>T (p.Glu663Ter)
c.1606G>T (p.Glu536Ter)
c.391G>T (p.Glu131Ter)
n.494G>T
n.778-7517C>A
 gnomAD v4
11g.2847960A>CCA379140568KCNQ1,KCNQ1-AS1c.1631A>C (p.Glu544Ala)
c.1988A>C (p.Glu663Ala)
c.1607A>C (p.Glu536Ala)
c.392A>C (p.Glu131Ala)
n.495A>C
n.778-7518T>G
11g.2847960A>GCA379140569KCNQ1,KCNQ1-AS1c.1631A>G (p.Glu544Gly)
c.1988A>G (p.Glu663Gly)
c.1607A>G (p.Glu536Gly)
c.392A>G (p.Glu131Gly)
n.495A>G
n.778-7518T>C
 gnomAD v4
11g.2847960A>TCA379140570KCNQ1,KCNQ1-AS1c.1631A>T (p.Glu544Val)
c.1988A>T (p.Glu663Val)
c.1607A>T (p.Glu536Val)
c.392A>T (p.Glu131Val)
n.495A>T
n.778-7518T>A
 gnomAD v4
11g.2847961G>ACA472467040KCNQ1,KCNQ1-AS1c.1632G>A (p.Glu544=)
c.1989G>A (p.Glu663=)
c.1608G>A (p.Glu536=)
c.393G>A (p.Glu131=)
n.496G>A
n.778-7519C>T
 ClinVar gnomAD v4
11g.2847961G>CCA379140572KCNQ1,KCNQ1-AS1c.1632G>C (p.Glu544Asp)
c.1989G>C (p.Glu663Asp)
c.1608G>C (p.Glu536Asp)
c.393G>C (p.Glu131Asp)
n.496G>C
n.778-7519C>G
11g.2847961G>TCA379140571KCNQ1,KCNQ1-AS1c.1632G>T (p.Glu544Asp)
c.1989G>T (p.Glu663Asp)
c.1608G>T (p.Glu536Asp)
c.393G>T (p.Glu131Asp)
n.496G>T
n.778-7519C>A
 gnomAD v4
11g.2847962C>ACA379140573KCNQ1,KCNQ1-AS1c.1633C>A (p.Gln545Lys)
c.1990C>A (p.Gln664Lys)
c.1609C>A (p.Gln537Lys)
c.394C>A (p.Gln132Lys)
n.497C>A
n.778-7520G>T
 gnomAD v4
11g.2847962C>GCA379140574KCNQ1,KCNQ1-AS1c.1633C>G (p.Gln545Glu)
c.1990C>G (p.Gln664Glu)
c.1609C>G (p.Gln537Glu)
c.394C>G (p.Gln132Glu)
n.497C>G
n.778-7520G>C
11g.2847962C>TCA379140575KCNQ1,KCNQ1-AS1c.1633C>T (p.Gln545Ter)
c.1990C>T (p.Gln664Ter)
c.1609C>T (p.Gln537Ter)
c.394C>T (p.Gln132Ter)
n.497C>T
n.778-7520G>A
 ClinVar
11g.2847963delCA2574728564KCNQ1,KCNQ1-AS1c.1634del (p.Gln545ArgfsTer2)
c.1991del (p.Gln664ArgfsTer2)
c.1610del (p.Gln537ArgfsTer2)
c.395del (p.Gln132ArgfsTer2)
n.498del
n.778-7521del
11g.2847963A>CCA379140576KCNQ1,KCNQ1-AS1c.1634A>C (p.Gln545Pro)
c.1991A>C (p.Gln664Pro)
c.1610A>C (p.Gln537Pro)
c.395A>C (p.Gln132Pro)
n.498A>C
n.778-7521T>G
11g.2847963A>GCA379140577KCNQ1,KCNQ1-AS1c.1634A>G (p.Gln545Arg)
c.1991A>G (p.Gln664Arg)
c.1610A>G (p.Gln537Arg)
c.395A>G (p.Gln132Arg)
n.498A>G
n.778-7521T>C
 gnomAD v4
11g.2847963A>TCA379140578KCNQ1,KCNQ1-AS1c.1634A>T (p.Gln545Leu)
c.1991A>T (p.Gln664Leu)
c.1610A>T (p.Gln537Leu)
c.395A>T (p.Gln132Leu)
n.498A>T
n.778-7521T>A
11g.2847963_2847964insACACCA2579860601KCNQ1,KCNQ1-AS1c.1634_1635insACAC (p.Leu546HisfsTer11)
c.1991_1992insACAC (p.Leu665HisfsTer11)
c.1610_1611insACAC (p.Leu538HisfsTer11)
c.395_396insACAC (p.Leu133HisfsTer11)
n.498_499insACAC
n.778-7522_778-7521insGTGT
11g.2847964G>ACA472467046KCNQ1,KCNQ1-AS1c.1635G>A (p.Gln545=)
c.1992G>A (p.Gln664=)
c.1611G>A (p.Gln537=)
c.396G>A (p.Gln132=)
n.499G>A
n.778-7522C>T
 gnomAD v4
11g.2847964G>CCA379140579KCNQ1,KCNQ1-AS1c.1635G>C (p.Gln545His)
c.1992G>C (p.Gln664His)
c.1611G>C (p.Gln537His)
c.396G>C (p.Gln132His)
n.499G>C
n.778-7522C>G
11g.2847964G>TCA379140580KCNQ1,KCNQ1-AS1c.1635G>T (p.Gln545His)
c.1992G>T (p.Gln664His)
c.1611G>T (p.Gln537His)
c.396G>T (p.Gln132His)
n.499G>T
n.778-7522C>A
 gnomAD v4
11g.2847965C>ACA379140581KCNQ1,KCNQ1-AS1c.1636C>A (p.Leu546Met)
c.1993C>A (p.Leu665Met)
c.1612C>A (p.Leu538Met)
c.397C>A (p.Leu133Met)
n.500C>A
n.778-7523G>T
 gnomAD v4
11g.2847965C>GCA379140582KCNQ1,KCNQ1-AS1c.1636C>G (p.Leu546Val)
c.1993C>G (p.Leu665Val)
c.1612C>G (p.Leu538Val)
c.397C>G (p.Leu133Val)
n.500C>G
n.778-7523G>C
11g.2847965C>TCA472467050KCNQ1,KCNQ1-AS1c.1636C>T (p.Leu546=)
c.1993C>T (p.Leu665=)
c.1612C>T (p.Leu538=)
c.397C>T (p.Leu133=)
n.500C>T
n.778-7523G>A
 gnomAD v4
11g.2847966T>ACA379140583KCNQ1,KCNQ1-AS1c.1637T>A (p.Leu546Gln)
c.1994T>A (p.Leu665Gln)
c.1613T>A (p.Leu538Gln)
c.398T>A (p.Leu133Gln)
n.501T>A
n.778-7524A>T
11g.2847966T>CCA379140584KCNQ1,KCNQ1-AS1c.1637T>C (p.Leu546Pro)
c.1994T>C (p.Leu665Pro)
c.1613T>C (p.Leu538Pro)
c.398T>C (p.Leu133Pro)
n.501T>C
n.778-7524A>G
11g.2847966T>GCA379140585KCNQ1,KCNQ1-AS1c.1637T>G (p.Leu546Arg)
c.1994T>G (p.Leu665Arg)
c.1613T>G (p.Leu538Arg)
c.398T>G (p.Leu133Arg)
n.501T>G
n.778-7524A>C
11g.2847967G>ACA472467055KCNQ1,KCNQ1-AS1c.1638G>A (p.Leu546=)
c.1995G>A (p.Leu665=)
c.1614G>A (p.Leu538=)
c.399G>A (p.Leu133=)
n.502G>A
n.778-7525C>T
 gnomAD v4
11g.2847967G>CCA472467058KCNQ1,KCNQ1-AS1c.1638G>C (p.Leu546=)
c.1995G>C (p.Leu665=)
c.1614G>C (p.Leu538=)
c.399G>C (p.Leu133=)
n.502G>C
n.778-7525C>G
11g.2847967G>TCA472467060KCNQ1,KCNQ1-AS1c.1638G>T (p.Leu546=)
c.1995G>T (p.Leu665=)
c.1614G>T (p.Leu538=)
c.399G>T (p.Leu133=)
n.502G>T
n.778-7525C>A
 ClinVar dbSNP gnomAD v4
11g.2847968A=CA1948349712KCNQ1,KCNQ1-AS1c.1639A= (p.Thr547=)
c.1996A= (p.Thr666=)
c.1615A= (p.Thr539=)
c.400A= (p.Thr134=)
n.503A=
n.778-7526T=
11g.2847968A>CCA379140587KCNQ1,KCNQ1-AS1c.1639A>C (p.Thr547Pro)
c.1996A>C (p.Thr666Pro)
c.1615A>C (p.Thr539Pro)
c.400A>C (p.Thr134Pro)
n.503A>C
n.778-7526T>G
 ClinVar dbSNP
11g.2847968A>GCA379140588KCNQ1,KCNQ1-AS1c.1639A>G (p.Thr547Ala)
c.1996A>G (p.Thr666Ala)
c.1615A>G (p.Thr539Ala)
c.400A>G (p.Thr134Ala)
n.503A>G
n.778-7526T>C
 gnomAD v4
11g.2847968A>TCA379140586KCNQ1,KCNQ1-AS1c.1639A>T (p.Thr547Ser)
c.1996A>T (p.Thr666Ser)
c.1615A>T (p.Thr539Ser)
c.400A>T (p.Thr134Ser)
n.503A>T
n.778-7526T>A
11g.2847969C>ACA379140591KCNQ1,KCNQ1-AS1c.1640C>A (p.Thr547Asn)
c.1997C>A (p.Thr666Asn)
c.1616C>A (p.Thr539Asn)
c.401C>A (p.Thr134Asn)
n.504C>A
n.778-7527G>T
 gnomAD v4
11g.2847969C=CA1948349713KCNQ1,KCNQ1-AS1c.1640C= (p.Thr547=)
c.1997C= (p.Thr666=)
c.1616C= (p.Thr539=)
c.401C= (p.Thr134=)
n.504C=
n.778-7527G=
11g.2847969C>GCA379140589KCNQ1,KCNQ1-AS1c.1640C>G (p.Thr547Ser)
c.1997C>G (p.Thr666Ser)
c.1616C>G (p.Thr539Ser)
c.401C>G (p.Thr134Ser)
n.504C>G
n.778-7527G>C
11g.2847969C>TCA379140590KCNQ1,KCNQ1-AS1c.1640C>T (p.Thr547Ile)
c.1997C>T (p.Thr666Ile)
c.1616C>T (p.Thr539Ile)
c.401C>T (p.Thr134Ile)
n.504C>T
n.778-7527G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847970C>ACA472467069KCNQ1,KCNQ1-AS1c.1641C>A (p.Thr547=)
c.1998C>A (p.Thr666=)
c.1617C>A (p.Thr539=)
c.402C>A (p.Thr134=)
n.505C>A
n.778-7528G>T
 gnomAD v4
11g.2847970C=CA1948349714KCNQ1,KCNQ1-AS1c.1641C= (p.Thr547=)
c.1998C= (p.Thr666=)
c.1617C= (p.Thr539=)
c.402C= (p.Thr134=)
n.505C=
n.778-7528G=
11g.2847970C>GCA472467070KCNQ1,KCNQ1-AS1c.1641C>G (p.Thr547=)
c.1998C>G (p.Thr666=)
c.1617C>G (p.Thr539=)
c.402C>G (p.Thr134=)
n.505C>G
n.778-7528G>C
 ClinVar dbSNP
11g.2847970C>TCA216345420KCNQ1,KCNQ1-AS1c.1641C>T (p.Thr547=)
c.1998C>T (p.Thr666=)
c.1617C>T (p.Thr539=)
c.402C>T (p.Thr134=)
n.505C>T
n.778-7528G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847971G>ACA006642KCNQ1,KCNQ1-AS1c.1642G>A (p.Val548Met)
c.1999G>A (p.Val667Met)
c.1618G>A (p.Val540Met)
c.403G>A (p.Val135Met)
n.506G>A
n.778-7529C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847971G>CCA379140592KCNQ1,KCNQ1-AS1c.1642G>C (p.Val548Leu)
c.1999G>C (p.Val667Leu)
c.1618G>C (p.Val540Leu)
c.403G>C (p.Val135Leu)
n.506G>C
n.778-7529C>G
11g.2847971G=CA1948349715KCNQ1,KCNQ1-AS1c.1642G= (p.Val548=)
c.1999G= (p.Val667=)
c.1618G= (p.Val540=)
c.403G= (p.Val135=)
n.506G=
n.778-7529C=
11g.2847971G>TCA379140593KCNQ1,KCNQ1-AS1c.1642G>T (p.Val548Leu)
c.1999G>T (p.Val667Leu)
c.1618G>T (p.Val540Leu)
c.403G>T (p.Val135Leu)
n.506G>T
n.778-7529C>A
 gnomAD v4
11g.2847972T>ACA379140594KCNQ1,KCNQ1-AS1c.1643T>A (p.Val548Glu)
c.2000T>A (p.Val667Glu)
c.1619T>A (p.Val540Glu)
c.404T>A (p.Val135Glu)
n.507T>A
n.778-7530A>T
11g.2847972T>CCA379140595KCNQ1,KCNQ1-AS1c.1643T>C (p.Val548Ala)
c.2000T>C (p.Val667Ala)
c.1619T>C (p.Val540Ala)
c.404T>C (p.Val135Ala)
n.507T>C
n.778-7530A>G
11g.2847972T>GCA379140596KCNQ1,KCNQ1-AS1c.1643T>G (p.Val548Gly)
c.2000T>G (p.Val667Gly)
c.1619T>G (p.Val540Gly)
c.404T>G (p.Val135Gly)
n.507T>G
n.778-7530A>C
11g.2847973G>ACA472467077KCNQ1,KCNQ1-AS1c.1644G>A (p.Val548=)
c.2001G>A (p.Val667=)
c.1620G>A (p.Val540=)
c.405G>A (p.Val135=)
n.508G>A
n.778-7531C>T
 gnomAD v4
11g.2847973G>CCA472467078KCNQ1,KCNQ1-AS1c.1644G>C (p.Val548=)
c.2001G>C (p.Val667=)
c.1620G>C (p.Val540=)
c.405G>C (p.Val135=)
n.508G>C
n.778-7531C>G
11g.2847973G>TCA472467080KCNQ1,KCNQ1-AS1c.1644G>T (p.Val548=)
c.2001G>T (p.Val667=)
c.1620G>T (p.Val540=)
c.405G>T (p.Val135=)
n.508G>T
n.778-7531C>A
 gnomAD v4
11g.2847974C>ACA379140597KCNQ1,KCNQ1-AS1c.1645C>A (p.Pro549Thr)
c.2002C>A (p.Pro668Thr)
c.1621C>A (p.Pro541Thr)
c.406C>A (p.Pro136Thr)
n.509C>A
n.778-7532G>T
 gnomAD v4
11g.2847974C>GCA379140598KCNQ1,KCNQ1-AS1c.1645C>G (p.Pro549Ala)
c.2002C>G (p.Pro668Ala)
c.1621C>G (p.Pro541Ala)
c.406C>G (p.Pro136Ala)
n.509C>G
n.778-7532G>C
11g.2847974C>TCA379140599KCNQ1,KCNQ1-AS1c.1645C>T (p.Pro549Ser)
c.2002C>T (p.Pro668Ser)
c.1621C>T (p.Pro541Ser)
c.406C>T (p.Pro136Ser)
n.509C>T
n.778-7532G>A
 gnomAD v4
11g.2847976delCA2612011442KCNQ1,KCNQ1-AS1c.1647del (p.Arg550GlyfsTer20)
c.2004del (p.Arg669GlyfsTer20)
c.1623del (p.Arg542GlyfsTer20)
c.408del (p.Arg137GlyfsTer20)
n.511del
n.778-7532del
 gnomAD v4
11g.2847975C>ACA379140602KCNQ1,KCNQ1-AS1c.1646C>A (p.Pro549His)
c.2003C>A (p.Pro668His)
c.1622C>A (p.Pro541His)
c.407C>A (p.Pro136His)
n.510C>A
n.778-7533G>T
 gnomAD v4
11g.2847975C>GCA379140600KCNQ1,KCNQ1-AS1c.1646C>G (p.Pro549Arg)
c.2003C>G (p.Pro668Arg)
c.1622C>G (p.Pro541Arg)
c.407C>G (p.Pro136Arg)
n.510C>G
n.778-7533G>C
11g.2847975C>TCA379140601KCNQ1,KCNQ1-AS1c.1646C>T (p.Pro549Leu)
c.2003C>T (p.Pro668Leu)
c.1622C>T (p.Pro541Leu)
c.407C>T (p.Pro136Leu)
n.510C>T
n.778-7533G>A
11g.2847976C>ACA472467101KCNQ1,KCNQ1-AS1c.1647C>A (p.Pro549=)
c.2004C>A (p.Pro668=)
c.1623C>A (p.Pro541=)
c.408C>A (p.Pro136=)
n.511C>A
n.778-7534G>T
 gnomAD v4
11g.2847976C>GCA472467097KCNQ1,KCNQ1-AS1c.1647C>G (p.Pro549=)
c.2004C>G (p.Pro668=)
c.1623C>G (p.Pro541=)
c.408C>G (p.Pro136=)
n.511C>G
n.778-7534G>C
11g.2847976C>TCA472467094KCNQ1,KCNQ1-AS1c.1647C>T (p.Pro549=)
c.2004C>T (p.Pro668=)
c.1623C>T (p.Pro541=)
c.408C>T (p.Pro136=)
n.511C>T
n.778-7534G>A
 gnomAD v4
11g.2847977A>CCA472467107KCNQ1,KCNQ1-AS1c.1648A>C (p.Arg550=)
c.2005A>C (p.Arg669=)
c.1624A>C (p.Arg542=)
c.409A>C (p.Arg137=)
n.512A>C
n.778-7535T>G
11g.2847977A>GCA379140603KCNQ1,KCNQ1-AS1c.1648A>G (p.Arg550Gly)
c.2005A>G (p.Arg669Gly)
c.1624A>G (p.Arg542Gly)
c.409A>G (p.Arg137Gly)
n.512A>G
n.778-7535T>C
 gnomAD v4
11g.2847977A>TCA379140604KCNQ1,KCNQ1-AS1c.1648A>T (p.Arg550Trp)
c.2005A>T (p.Arg669Trp)
c.1624A>T (p.Arg542Trp)
c.409A>T (p.Arg137Trp)
n.512A>T
n.778-7535T>A
 gnomAD v4
11g.2847985_2848010dupCA2573145952KCNQ1,KCNQ1-AS1c.1656_*7dup (n.1656_*7dup)
c.2013_*7dup (n.2013_*7dup)
c.1632_*7dup (n.1632_*7dup)
c.417_*7dup (n.417_*7dup)
n.520_545dup
n.778-7560_778-7535dup
 ClinVar dbSNP
11g.2847985_2848010delCA2573145951KCNQ1,KCNQ1-AS1c.1656_*7del (n.[c.1656_*7del;Pro553TrpfsTer?])
c.2013_*7del (n.[c.2013_*7del;Pro672TrpfsTer?])
c.1632_*7del (n.[c.1632_*7del;Pro545TrpfsTer?])
c.417_*7del (n.[c.417_*7del;Pro140TrpfsTer?])
n.520_545del
n.778-7560_778-7535del
 ClinVar dbSNP
11g.2847978G>ACA379140605KCNQ1,KCNQ1-AS1c.1649G>A (p.Arg550Lys)
c.2006G>A (p.Arg669Lys)
c.1625G>A (p.Arg542Lys)
c.410G>A (p.Arg137Lys)
n.513G>A
n.778-7536C>T
 gnomAD v4
11g.2847978G>CCA379140606KCNQ1,KCNQ1-AS1c.1649G>C (p.Arg550Thr)
c.2006G>C (p.Arg669Thr)
c.1625G>C (p.Arg542Thr)
c.410G>C (p.Arg137Thr)
n.513G>C
n.778-7536C>G
 dbSNP gnomAD v2 gnomAD v4
11g.2847978G=CA1948349716KCNQ1,KCNQ1-AS1c.1649G= (p.Arg550=)
c.2006G= (p.Arg669=)
c.1625G= (p.Arg542=)
c.410G= (p.Arg137=)
n.513G=
n.778-7536C=
11g.2847978G>TCA379140607KCNQ1,KCNQ1-AS1c.1649G>T (p.Arg550Met)
c.2006G>T (p.Arg669Met)
c.1625G>T (p.Arg542Met)
c.410G>T (p.Arg137Met)
n.513G>T
n.778-7536C>A
 gnomAD v4
11g.2847978_2847991delinsGGAGGGGCCCCGATCA1948349717KCNQ1,KCNQ1-AS1c.1649_1662delinsGGAGGGGCCCCGAT (p.Arg550=)
c.2006_2019delinsGGAGGGGCCCCGAT (p.Arg669=)
c.1625_1638delinsGGAGGGGCCCCGAT (p.Arg542=)
c.410_423delinsGGAGGGGCCCCGAT (p.Arg137=)
n.513_526delinsGGAGGGGCCCCGAT
n.778-7549_778-7536delinsATCGGGGCCCCTCC
11g.2847978_2847979insACA2612011444KCNQ1,KCNQ1-AS1c.1649_1650insA (p.Arg551GlufsTer5)
c.2006_2007insA (p.Arg670GlufsTer5)
c.1625_1626insA (p.Arg543GlufsTer5)
c.410_411insA (p.Arg138GlufsTer5)
n.513_514insA
n.778-7537_778-7536insT
 gnomAD v4
11g.2847979G>ACA472467359KCNQ1,KCNQ1-AS1c.1650G>A (p.Arg550=)
c.2007G>A (p.Arg669=)
c.1626G>A (p.Arg542=)
c.411G>A (p.Arg137=)
n.514G>A
n.778-7537C>T
 gnomAD v4
11g.2847979G>CCA379140608KCNQ1,KCNQ1-AS1c.1650G>C (p.Arg550Ser)
c.2007G>C (p.Arg669Ser)
c.1626G>C (p.Arg542Ser)
c.411G>C (p.Arg137Ser)
n.514G>C
n.778-7537C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847979G=CA1948349718KCNQ1,KCNQ1-AS1c.1650G= (p.Arg550=)
c.2007G= (p.Arg669=)
c.1626G= (p.Arg542=)
c.411G= (p.Arg137=)
n.514G=
n.778-7537C=
11g.2847979G>TCA379140609KCNQ1,KCNQ1-AS1c.1650G>T (p.Arg550Ser)
c.2007G>T (p.Arg669Ser)
c.1626G>T (p.Arg542Ser)
c.411G>T (p.Arg137Ser)
n.514G>T
n.778-7537C>A
 gnomAD v4
11g.2847985_2847997delCA597114352KCNQ1,KCNQ1-AS1c.1656_1668del (p.Asp554GlufsTer12)
c.2013_2025del (p.Asp673GlufsTer12)
c.1632_1644del (p.Asp546GlufsTer12)
c.417_429del (p.Asp141GlufsTer12)
n.520_532del
n.778-7549_778-7537del
 dbSNP gnomAD v2 gnomAD v4
11g.2847980A>CCA472467360KCNQ1,KCNQ1-AS1c.1651A>C (p.Arg551=)
c.2008A>C (p.Arg670=)
c.1627A>C (p.Arg543=)
c.412A>C (p.Arg138=)
n.515A>C
n.778-7538T>G
11g.2847980A>GCA379140610KCNQ1,KCNQ1-AS1c.1651A>G (p.Arg551Gly)
c.2008A>G (p.Arg670Gly)
c.1627A>G (p.Arg543Gly)
c.412A>G (p.Arg138Gly)
n.515A>G
n.778-7538T>C
 gnomAD v4
11g.2847980A>TCA379140611KCNQ1,KCNQ1-AS1c.1651A>T (p.Arg551Trp)
c.2008A>T (p.Arg670Trp)
c.1627A>T (p.Arg543Trp)
c.412A>T (p.Arg138Trp)
n.515A>T
n.778-7538T>A
11g.2847981G>ACA034179KCNQ1,KCNQ1-AS1c.1652G>A (p.Arg551Lys)
c.2009G>A (p.Arg670Lys)
c.1628G>A (p.Arg543Lys)
c.413G>A (p.Arg138Lys)
n.516G>A
n.778-7539C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847981G>CCA379140612KCNQ1,KCNQ1-AS1c.1652G>C (p.Arg551Thr)
c.2009G>C (p.Arg670Thr)
c.1628G>C (p.Arg543Thr)
c.413G>C (p.Arg138Thr)
n.516G>C
n.778-7539C>G
11g.2847981G=CA1948349719KCNQ1,KCNQ1-AS1c.1652G= (p.Arg551=)
c.2009G= (p.Arg670=)
c.1628G= (p.Arg543=)
c.413G= (p.Arg138=)
n.516G=
n.778-7539C=
11g.2847981G>TCA379140613KCNQ1,KCNQ1-AS1c.1652G>T (p.Arg551Met)
c.2009G>T (p.Arg670Met)
c.1628G>T (p.Arg543Met)
c.413G>T (p.Arg138Met)
n.516G>T
n.778-7539C>A
 gnomAD v4
11g.2847984delCA2612011445KCNQ1,KCNQ1-AS1c.1655del (p.Gly552AlafsTer18)
c.2012del (p.Gly671AlafsTer18)
c.1631del (p.Gly544AlafsTer18)
c.416del (p.Gly139AlafsTer18)
n.519del
n.778-7539del
 gnomAD v4
11g.2847982G>ACA472467362KCNQ1,KCNQ1-AS1c.1653G>A (p.Arg551=)
c.2010G>A (p.Arg670=)
c.1629G>A (p.Arg543=)
c.414G>A (p.Arg138=)
n.517G>A
n.778-7540C>T
 dbSNP gnomAD v4
11g.2847982G>CCA379140615KCNQ1,KCNQ1-AS1c.1653G>C (p.Arg551Ser)
c.2010G>C (p.Arg670Ser)
c.1629G>C (p.Arg543Ser)
c.414G>C (p.Arg138Ser)
n.517G>C
n.778-7540C>G
11g.2847982G=CA1948349720KCNQ1,KCNQ1-AS1c.1653G= (p.Arg551=)
c.2010G= (p.Arg670=)
c.1629G= (p.Arg543=)
c.414G= (p.Arg138=)
n.517G=
n.778-7540C=
11g.2847982G>TCA379140614KCNQ1,KCNQ1-AS1c.1653G>T (p.Arg551Ser)
c.2010G>T (p.Arg670Ser)
c.1629G>T (p.Arg543Ser)
c.414G>T (p.Arg138Ser)
n.517G>T
n.778-7540C>A
11g.2847983G>ACA379140616KCNQ1,KCNQ1-AS1c.1654G>A (p.Gly552Ser)
c.2011G>A (p.Gly671Ser)
c.1630G>A (p.Gly544Ser)
c.415G>A (p.Gly139Ser)
n.518G>A
n.778-7541C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847983G>CCA034215KCNQ1,KCNQ1-AS1c.1654G>C (p.Gly552Arg)
c.2011G>C (p.Gly671Arg)
c.1630G>C (p.Gly544Arg)
c.415G>C (p.Gly139Arg)
n.518G>C
n.778-7541C>G
 dbSNP ExAC gnomAD v4
11g.2847983G=CA1948349721KCNQ1,KCNQ1-AS1c.1654G= (p.Gly552=)
c.2011G= (p.Gly671=)
c.1630G= (p.Gly544=)
c.415G= (p.Gly139=)
n.518G=
n.778-7541C=
11g.2847983G>TCA379140617KCNQ1,KCNQ1-AS1c.1654G>T (p.Gly552Cys)
c.2011G>T (p.Gly671Cys)
c.1630G>T (p.Gly544Cys)
c.415G>T (p.Gly139Cys)
n.518G>T
n.778-7541C>A
 gnomAD v4
11g.2847984G>ACA379140618KCNQ1,KCNQ1-AS1c.1655G>A (p.Gly552Asp)
c.2012G>A (p.Gly671Asp)
c.1631G>A (p.Gly544Asp)
c.416G>A (p.Gly139Asp)
n.519G>A
n.778-7542C>T
 ClinVar gnomAD v4
11g.2847984G>CCA379140619KCNQ1,KCNQ1-AS1c.1655G>C (p.Gly552Ala)
c.2012G>C (p.Gly671Ala)
c.1631G>C (p.Gly544Ala)
c.416G>C (p.Gly139Ala)
n.519G>C
n.778-7542C>G
11g.2847984G>TCA379140620KCNQ1,KCNQ1-AS1c.1655G>T (p.Gly552Val)
c.2012G>T (p.Gly671Val)
c.1631G>T (p.Gly544Val)
c.416G>T (p.Gly139Val)
n.519G>T
n.778-7542C>A
 gnomAD v4
11g.2847985C>ACA472467366KCNQ1,KCNQ1-AS1c.1656C>A (p.Gly552=)
c.2013C>A (p.Gly671=)
c.1632C>A (p.Gly544=)
c.417C>A (p.Gly139=)
n.520C>A
n.778-7543G>T
 gnomAD v4
11g.2847985C>GCA472467367KCNQ1,KCNQ1-AS1c.1656C>G (p.Gly552=)
c.2013C>G (p.Gly671=)
c.1632C>G (p.Gly544=)
c.417C>G (p.Gly139=)
n.520C>G
n.778-7543G>C
11g.2847985C>TCA472467368KCNQ1,KCNQ1-AS1c.1656C>T (p.Gly552=)
c.2013C>T (p.Gly671=)
c.1632C>T (p.Gly544=)
c.417C>T (p.Gly139=)
n.520C>T
n.778-7543G>A
 gnomAD v4
11g.2847988delCA2612011447KCNQ1,KCNQ1-AS1c.1659del (p.Asp554MetfsTer16)
c.2016del (p.Asp673MetfsTer16)
c.1635del (p.Asp546MetfsTer16)
c.420del (p.Asp141MetfsTer16)
n.523del
n.778-7543del
 gnomAD v4
11g.2847986C>ACA379140621KCNQ1,KCNQ1-AS1c.1657C>A (p.Pro553Thr)
c.2014C>A (p.Pro672Thr)
c.1633C>A (p.Pro545Thr)
c.418C>A (p.Pro140Thr)
n.521C>A
n.778-7544G>T
 gnomAD v4
11g.2847986C=CA1948349722KCNQ1,KCNQ1-AS1c.1657C= (p.Pro553=)
c.2014C= (p.Pro672=)
c.1633C= (p.Pro545=)
c.418C= (p.Pro140=)
n.521C=
n.778-7544G=
11g.2847986C>GCA379140622KCNQ1,KCNQ1-AS1c.1657C>G (p.Pro553Ala)
c.2014C>G (p.Pro672Ala)
c.1633C>G (p.Pro545Ala)
c.418C>G (p.Pro140Ala)
n.521C>G
n.778-7544G>C
 ClinVar
11g.2847986C>TCA379140623KCNQ1,KCNQ1-AS1c.1657C>T (p.Pro553Ser)
c.2014C>T (p.Pro672Ser)
c.1633C>T (p.Pro545Ser)
c.418C>T (p.Pro140Ser)
n.521C>T
n.778-7544G>A
 dbSNP gnomAD v4
11g.2847987C>ACA379140624KCNQ1,KCNQ1-AS1c.1658C>A (p.Pro553His)
c.2015C>A (p.Pro672His)
c.1634C>A (p.Pro545His)
c.419C>A (p.Pro140His)
n.522C>A
n.778-7545G>T
 dbSNP gnomAD v3 gnomAD v4
11g.2847987C=CA1948349723KCNQ1,KCNQ1-AS1c.1658C= (p.Pro553=)
c.2015C= (p.Pro672=)
c.1634C= (p.Pro545=)
c.419C= (p.Pro140=)
n.522C=
n.778-7545G=
11g.2847987C>GCA379140625KCNQ1,KCNQ1-AS1c.1658C>G (p.Pro553Arg)
c.2015C>G (p.Pro672Arg)
c.1634C>G (p.Pro545Arg)
c.419C>G (p.Pro140Arg)
n.522C>G
n.778-7545G>C
11g.2847987C>TCA379140626KCNQ1,KCNQ1-AS1c.1658C>T (p.Pro553Leu)
c.2015C>T (p.Pro672Leu)
c.1634C>T (p.Pro545Leu)
c.419C>T (p.Pro140Leu)
n.522C>T
n.778-7545G>A
 gnomAD v4
11g.2847988C>ACA472467370KCNQ1,KCNQ1-AS1c.1659C>A (p.Pro553=)
c.2016C>A (p.Pro672=)
c.1635C>A (p.Pro545=)
c.420C>A (p.Pro140=)
n.523C>A
n.778-7546G>T
 gnomAD v4
11g.2847988C=CA1948349724KCNQ1,KCNQ1-AS1c.1659C= (p.Pro553=)
c.2016C= (p.Pro672=)
c.1635C= (p.Pro545=)
c.420C= (p.Pro140=)
n.523C=
n.778-7546G=
11g.2847988C>GCA472467371KCNQ1,KCNQ1-AS1c.1659C>G (p.Pro553=)
c.2016C>G (p.Pro672=)
c.1635C>G (p.Pro545=)
c.420C>G (p.Pro140=)
n.523C>G
n.778-7546G>C
11g.2847988C>TCA034239KCNQ1,KCNQ1-AS1c.1659C>T (p.Pro553=)
c.2016C>T (p.Pro672=)
c.1635C>T (p.Pro545=)
c.420C>T (p.Pro140=)
n.523C>T
n.778-7546G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847989G>ACA379140627KCNQ1,KCNQ1-AS1c.1660G>A (p.Asp554Asn)
c.2017G>A (p.Asp673Asn)
c.1636G>A (p.Asp546Asn)
c.421G>A (p.Asp141Asn)
n.524G>A
n.778-7547C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847989G>CCA379140628KCNQ1,KCNQ1-AS1c.1660G>C (p.Asp554His)
c.2017G>C (p.Asp673His)
c.1636G>C (p.Asp546His)
c.421G>C (p.Asp141His)
n.524G>C
n.778-7547C>G
 dbSNP gnomAD v3 gnomAD v4
11g.2847989G=CA1948349725KCNQ1,KCNQ1-AS1c.1660G= (p.Asp554=)
c.2017G= (p.Asp673=)
c.1636G= (p.Asp546=)
c.421G= (p.Asp141=)
n.524G=
n.778-7547C=
11g.2847989G>TCA216345443KCNQ1,KCNQ1-AS1c.1660G>T (p.Asp554Tyr)
c.2017G>T (p.Asp673Tyr)
c.1636G>T (p.Asp546Tyr)
c.421G>T (p.Asp141Tyr)
n.524G>T
n.778-7547C>A
 dbSNP gnomAD v4
11g.2847991_2848003dupCA2695213094KCNQ1,KCNQ1-AS1c.1662_1674dup (n.1662_1674dup)
c.2019_2031dup (n.2019_2031dup)
c.1638_1650dup (n.1638_1650dup)
c.423_435dup (n.423_435dup)
n.526_538dup
n.778-7559_778-7547dup
11g.2847990A>CCA379140629KCNQ1,KCNQ1-AS1c.1661A>C (p.Asp554Ala)
c.2018A>C (p.Asp673Ala)
c.1637A>C (p.Asp546Ala)
c.422A>C (p.Asp141Ala)
n.525A>C
n.778-7548T>G
11g.2847990A>GCA379140630KCNQ1,KCNQ1-AS1c.1661A>G (p.Asp554Gly)
c.2018A>G (p.Asp673Gly)
c.1637A>G (p.Asp546Gly)
c.422A>G (p.Asp141Gly)
n.525A>G
n.778-7548T>C
11g.2847990A>TCA379140631KCNQ1,KCNQ1-AS1c.1661A>T (p.Asp554Val)
c.2018A>T (p.Asp673Val)
c.1637A>T (p.Asp546Val)
c.422A>T (p.Asp141Val)
n.525A>T
n.778-7548T>A
 gnomAD v4
11g.2847991T>ACA379140632KCNQ1,KCNQ1-AS1c.1662T>A (p.Asp554Glu)
c.2019T>A (p.Asp673Glu)
c.1638T>A (p.Asp546Glu)
c.423T>A (p.Asp141Glu)
n.526T>A
n.778-7549A>T
 ClinVar
11g.2847991T>CCA472467372KCNQ1,KCNQ1-AS1c.1662T>C (p.Asp554=)
c.2019T>C (p.Asp673=)
c.1638T>C (p.Asp546=)
c.423T>C (p.Asp141=)
n.526T>C
n.778-7549A>G
 gnomAD v4
11g.2847991T>GCA379140633KCNQ1,KCNQ1-AS1c.1662T>G (p.Asp554Glu)
c.2019T>G (p.Asp673Glu)
c.1638T>G (p.Asp546Glu)
c.423T>G (p.Asp141Glu)
n.526T>G
n.778-7549A>C
 dbSNP
11g.2847991T=CA1948349726KCNQ1,KCNQ1-AS1c.1662T= (p.Asp554=)
c.2019T= (p.Asp673=)
c.1638T= (p.Asp546=)
c.423T= (p.Asp141=)
n.526T=
n.778-7549A=
11g.2847992G>ACA034257KCNQ1,KCNQ1-AS1c.1663G>A (p.Glu555Lys)
c.2020G>A (p.Glu674Lys)
c.1639G>A (p.Glu547Lys)
c.424G>A (p.Glu142Lys)
n.527G>A
n.778-7550C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847992G>CCA379140634KCNQ1,KCNQ1-AS1c.1663G>C (p.Glu555Gln)
c.2020G>C (p.Glu674Gln)
c.1639G>C (p.Glu547Gln)
c.424G>C (p.Glu142Gln)
n.527G>C
n.778-7550C>G
11g.2847992G=CA1948349727KCNQ1,KCNQ1-AS1c.1663G= (p.Glu555=)
c.2020G= (p.Glu674=)
c.1639G= (p.Glu547=)
c.424G= (p.Glu142=)
n.527G=
n.778-7550C=
11g.2847992G>TCA216345450KCNQ1,KCNQ1-AS1c.1663G>T (p.Glu555Ter)
c.2020G>T (p.Glu674Ter)
c.1639G>T (p.Glu547Ter)
c.424G>T (p.Glu142Ter)
n.527G>T
n.778-7550C>A
 dbSNP gnomAD v4
11g.2847998_2848010delCA2574728565KCNQ1,KCNQ1-AS1c.1669_*7del (n.[c.1669_*7del;Ser557MetfsTer9])
c.2026_*7del (n.[c.2026_*7del;Ser676MetfsTer9])
c.1645_*7del (n.[c.1645_*7del;Ser549MetfsTer9])
c.430_*7del (n.[c.430_*7del;Ser144MetfsTer9])
n.533_545del
n.778-7562_778-7550del
 gnomAD v4
11g.2847993A=CA1948349728KCNQ1,KCNQ1-AS1c.1664A= (p.Glu555=)
c.2021A= (p.Glu674=)
c.1640A= (p.Glu547=)
c.425A= (p.Glu142=)
n.528A=
n.778-7551T=
11g.2847993A>CCA379140635KCNQ1,KCNQ1-AS1c.1664A>C (p.Glu555Ala)
c.2021A>C (p.Glu674Ala)
c.1640A>C (p.Glu547Ala)
c.425A>C (p.Glu142Ala)
n.528A>C
n.778-7551T>G
11g.2847993A>GCA379140636KCNQ1,KCNQ1-AS1c.1664A>G (p.Glu555Gly)
c.2021A>G (p.Glu674Gly)
c.1640A>G (p.Glu547Gly)
c.425A>G (p.Glu142Gly)
n.528A>G
n.778-7551T>C
 ClinVar gnomAD v4
11g.2847993A>TCA379140637KCNQ1,KCNQ1-AS1c.1664A>T (p.Glu555Val)
c.2021A>T (p.Glu674Val)
c.1640A>T (p.Glu547Val)
c.425A>T (p.Glu142Val)
n.528A>T
n.778-7551T>A
 ClinVar
11g.2847994G>ACA034273KCNQ1,KCNQ1-AS1c.1665G>A (p.Glu555=)
c.2022G>A (p.Glu674=)
c.1641G>A (p.Glu547=)
c.426G>A (p.Glu142=)
n.529G>A
n.778-7552C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847994G>CCA379140638KCNQ1,KCNQ1-AS1c.1665G>C (p.Glu555Asp)
c.2022G>C (p.Glu674Asp)
c.1641G>C (p.Glu547Asp)
c.426G>C (p.Glu142Asp)
n.529G>C
n.778-7552C>G
11g.2847994G=CA1948349729KCNQ1,KCNQ1-AS1c.1665G= (p.Glu555=)
c.2022G= (p.Glu674=)
c.1641G= (p.Glu547=)
c.426G= (p.Glu142=)
n.529G=
n.778-7552C=
11g.2847994G>TCA379140639KCNQ1,KCNQ1-AS1c.1665G>T (p.Glu555Asp)
c.2022G>T (p.Glu674Asp)
c.1641G>T (p.Glu547Asp)
c.426G>T (p.Glu142Asp)
n.529G>T
n.778-7552C>A
 gnomAD v4
11g.2847997dupCA305988KCNQ1,KCNQ1-AS1c.1668dup (p.Ser557ValfsTer?)
c.2025dup (p.Ser676ValfsTer?)
c.1644dup (p.Ser549ValfsTer?)
c.429dup (p.Ser144ValfsTer?)
n.532dup
n.778-7552dup
 ClinVar dbSNP
11g.2847995G>ACA379140641KCNQ1,KCNQ1-AS1c.1666G>A (p.Gly556Arg)
c.2023G>A (p.Gly675Arg)
c.1642G>A (p.Gly548Arg)
c.427G>A (p.Gly143Arg)
n.530G>A
n.778-7553C>T
 ClinVar gnomAD v4
11g.2847995G>CCA379140642KCNQ1,KCNQ1-AS1c.1666G>C (p.Gly556Arg)
c.2023G>C (p.Gly675Arg)
c.1642G>C (p.Gly548Arg)
c.427G>C (p.Gly143Arg)
n.530G>C
n.778-7553C>G
11g.2847995G>TCA379140640KCNQ1,KCNQ1-AS1c.1666G>T (p.Gly556Trp)
c.2023G>T (p.Gly675Trp)
c.1642G>T (p.Gly548Trp)
c.427G>T (p.Gly143Trp)
n.530G>T
n.778-7553C>A
 gnomAD v4
11g.2847996G>ACA379140644KCNQ1,KCNQ1-AS1c.1667G>A (p.Gly556Glu)
c.2024G>A (p.Gly675Glu)
c.1643G>A (p.Gly548Glu)
c.428G>A (p.Gly143Glu)
n.531G>A
n.778-7554C>T
 gnomAD v4
11g.2847996G>CCA379140643KCNQ1,KCNQ1-AS1c.1667G>C (p.Gly556Ala)
c.2024G>C (p.Gly675Ala)
c.1643G>C (p.Gly548Ala)
c.428G>C (p.Gly143Ala)
n.531G>C
n.778-7554C>G
11g.2847996G=CA1948349730KCNQ1,KCNQ1-AS1c.1667G= (p.Gly556=)
c.2024G= (p.Gly675=)
c.1643G= (p.Gly548=)
c.428G= (p.Gly143=)
n.531G=
n.778-7554C=
11g.2847996G>TCA216345455KCNQ1,KCNQ1-AS1c.1667G>T (p.Gly556Val)
c.2024G>T (p.Gly675Val)
c.1643G>T (p.Gly548Val)
c.428G>T (p.Gly143Val)
n.531G>T
n.778-7554C>A
 dbSNP gnomAD v4
11g.2847997G>ACA034288KCNQ1,KCNQ1-AS1c.1668G>A (p.Gly556=)
c.2025G>A (p.Gly675=)
c.1644G>A (p.Gly548=)
c.429G>A (p.Gly143=)
n.532G>A
n.778-7555C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847997G>CCA472467377KCNQ1,KCNQ1-AS1c.1668G>C (p.Gly556=)
c.2025G>C (p.Gly675=)
c.1644G>C (p.Gly548=)
c.429G>C (p.Gly143=)
n.532G>C
n.778-7555C>G
11g.2847997G=CA1948349731KCNQ1,KCNQ1-AS1c.1668G= (p.Gly556=)
c.2025G= (p.Gly675=)
c.1644G= (p.Gly548=)
c.429G= (p.Gly143=)
n.532G=
n.778-7555C=
11g.2847997G>TCA472467376KCNQ1,KCNQ1-AS1c.1668G>T (p.Gly556=)
c.2025G>T (p.Gly675=)
c.1644G>T (p.Gly548=)
c.429G>T (p.Gly143=)
n.532G>T
n.778-7555C>A
 gnomAD v4
11g.2847998delCA2723273688KCNQ1,KCNQ1-AS1c.1669del (p.Ser557ProfsTer13)
c.2026del (p.Ser676ProfsTer13)
c.1645del (p.Ser549ProfsTer13)
c.430del (p.Ser144ProfsTer13)
n.533del
n.778-7556del
 dbSNP
11g.2847998T>ACA379140645KCNQ1,KCNQ1-AS1c.1669T>A (p.Ser557Thr)
c.2026T>A (p.Ser676Thr)
c.1645T>A (p.Ser549Thr)
c.430T>A (p.Ser144Thr)
n.533T>A
n.778-7556A>T
 dbSNP
11g.2847998T>CCA379140646KCNQ1,KCNQ1-AS1c.1669T>C (p.Ser557Pro)
c.2026T>C (p.Ser676Pro)
c.1645T>C (p.Ser549Pro)
c.430T>C (p.Ser144Pro)
n.533T>C
n.778-7556A>G
11g.2847998T>GCA379140647KCNQ1,KCNQ1-AS1c.1669T>G (p.Ser557Ala)
c.2026T>G (p.Ser676Ala)
c.1645T>G (p.Ser549Ala)
c.430T>G (p.Ser144Ala)
n.533T>G
n.778-7556A>C
11g.2847998T=CA1948349732KCNQ1,KCNQ1-AS1c.1669T= (p.Ser557=)
c.2026T= (p.Ser676=)
c.1645T= (p.Ser549=)
c.430T= (p.Ser144=)
n.533T=
n.778-7556A=
11g.2847999C>ACA379140648KCNQ1,KCNQ1-AS1c.1670C>A (p.Ser557Tyr)
c.2027C>A (p.Ser676Tyr)
c.1646C>A (p.Ser549Tyr)
c.431C>A (p.Ser144Tyr)
n.534C>A
n.778-7557G>T
 dbSNP gnomAD v2 gnomAD v4
11g.2847999C=CA1948349733KCNQ1,KCNQ1-AS1c.1670C= (p.Ser557=)
c.2027C= (p.Ser676=)
c.1646C= (p.Ser549=)
c.431C= (p.Ser144=)
n.534C=
n.778-7557G=
11g.2847999C>GCA379140649KCNQ1,KCNQ1-AS1c.1670C>G (p.Ser557Cys)
c.2027C>G (p.Ser676Cys)
c.1646C>G (p.Ser549Cys)
c.431C>G (p.Ser144Cys)
n.534C>G
n.778-7557G>C
11g.2847999C>TCA379140650KCNQ1,KCNQ1-AS1c.1670C>T (p.Ser557Phe)
c.2027C>T (p.Ser676Phe)
c.1646C>T (p.Ser549Phe)
c.431C>T (p.Ser144Phe)
n.534C>T
n.778-7557G>A
 gnomAD v4
11g.2848000C>ACA472467379KCNQ1,KCNQ1-AS1c.1671C>A (p.Ser557=)
c.2028C>A (p.Ser676=)
c.1647C>A (p.Ser549=)
c.432C>A (p.Ser144=)
n.535C>A
n.778-7558G>T
 gnomAD v4
11g.2848000C>GCA472467380KCNQ1,KCNQ1-AS1c.1671C>G (p.Ser557=)
c.2028C>G (p.Ser676=)
c.1647C>G (p.Ser549=)
c.432C>G (p.Ser144=)
n.535C>G
n.778-7558G>C
11g.2848000C>TCA472467381KCNQ1,KCNQ1-AS1c.1671C>T (p.Ser557=)
c.2028C>T (p.Ser676=)
c.1647C>T (p.Ser549=)
c.432C>T (p.Ser144=)
n.535C>T
n.778-7558G>A
 ClinVar dbSNP gnomAD v4
11g.2848001T>ACA379140651KCNQ1,KCNQ1-AS1c.1672T>A (p.Ter558Arg)
c.2029T>A (p.Ter677Arg)
c.1648T>A (p.Ter550Arg)
c.433T>A (p.Ter145Arg)
n.536T>A
n.778-7559A>T
 gnomAD v4
11g.2848001T>CCA379140652KCNQ1,KCNQ1-AS1c.1672T>C (p.Ter558Arg)
c.2029T>C (p.Ter677Arg)
c.1648T>C (p.Ter550Arg)
c.433T>C (p.Ter145Arg)
n.536T>C
n.778-7559A>G
 gnomAD v4
11g.2848001T>GCA379140653KCNQ1,KCNQ1-AS1c.1672T>G (p.Ter558Gly)
c.2029T>G (p.Ter677Gly)
c.1648T>G (p.Ter550Gly)
c.433T>G (p.Ter145Gly)
n.536T>G
n.778-7559A>C
11g.2848002G>ACA472467382KCNQ1,KCNQ1-AS1c.1673G>A (p.Ter558=)
c.2030G>A (p.Ter677=)
c.1649G>A (p.Ter550=)
c.434G>A (p.Ter145=)
n.537G>A
n.778-7560C>T
 ClinVar dbSNP gnomAD v4
11g.2848002G>CCA379140654KCNQ1,KCNQ1-AS1c.1673G>C (p.Ter558Ser)
c.2030G>C (p.Ter677Ser)
c.1649G>C (p.Ter550Ser)
c.434G>C (p.Ter145Ser)
n.537G>C
n.778-7560C>G
11g.2848002G=CA1948349734KCNQ1,KCNQ1-AS1c.1673G= (p.Ter558=)
c.2030G= (p.Ter677=)
c.1649G= (p.Ter550=)
c.434G= (p.Ter145=)
n.537G=
n.778-7560C=
11g.2848002G>TCA379140655KCNQ1,KCNQ1-AS1c.1673G>T (p.Ter558Leu)
c.2030G>T (p.Ter677Leu)
c.1649G>T (p.Ter550Leu)
c.434G>T (p.Ter145Leu)
n.537G>T
n.778-7560C>A
 gnomAD v4
11g.2848003A>CCA379140658KCNQ1,KCNQ1-AS1c.1674A>C (p.Ter558Cys)
c.2031A>C (p.Ter677Cys)
c.1650A>C (p.Ter550Cys)
c.435A>C (p.Ter145Cys)
n.538A>C
n.778-7561T>G
11g.2848003A>GCA379140657KCNQ1,KCNQ1-AS1c.1674A>G (p.Ter558Trp)
c.2031A>G (p.Ter677Trp)
c.1650A>G (p.Ter550Trp)
c.435A>G (p.Ter145Trp)
n.538A>G
n.778-7561T>C
 gnomAD v4
11g.2848003A>TCA379140656KCNQ1,KCNQ1-AS1c.1674A>T (p.Ter558Cys)
c.2031A>T (p.Ter677Cys)
c.1650A>T (p.Ter550Cys)
c.435A>T (p.Ter145Cys)
n.538A>T
n.778-7561T>A
 gnomAD v4
11g.2848004G>ACA597114353KCNQ1,KCNQ1-AS1c.*1G>A (n.*1G>A)
n.539G>A
n.778-7562C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2848004G=CA1948349735KCNQ1,KCNQ1-AS1c.*1G= (n.*1G=)
n.539G=
n.778-7562C=
11g.2848004G>TCA2612011449KCNQ1,KCNQ1-AS1c.*1G>T (n.*1G>T)
n.539G>T
n.778-7562C>A
 gnomAD v4
11g.2848005G>ACA2574728566KCNQ1,KCNQ1-AS1c.*2G>A (n.*2G>A)
n.540G>A
n.778-7563C>T
11g.2848005G=CA1948349736KCNQ1,KCNQ1-AS1c.*2G= (n.*2G=)
n.540G=
n.778-7563C=
11g.2848005G>TCA216345460KCNQ1,KCNQ1-AS1c.*2G>T (n.*2G>T)
n.540G>T
n.778-7563C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2848006A=CA1948349738KCNQ1,KCNQ1-AS1c.*3A= (n.*3A=)
n.541A=
n.778-7564T=
11g.2848006A>GCA675201851KCNQ1,KCNQ1-AS1c.*3A>G (n.*3A>G)
n.541A>G
n.778-7564T>C
 dbSNP
11g.2848006_2848007delinsAGCA1948349737KCNQ1,KCNQ1-AS1c.*3_*4delinsAG (n.*3_*4delinsAG)
n.541_542delinsAG
n.778-7565_778-7564delinsCT
11g.2848006_2848019delinsAGGGGATGGGGCTGCA1948349739KCNQ1,KCNQ1-AS1c.*3_*16delinsAGGGGATGGGGCTG (n.*3_*16delinsAGGGGATGGGGCTG)
n.541_554delinsAGGGGATGGGGCTG
n.778-7577_778-7564delinsCAGCCCCATCCCCT
11g.2848007G>ACA597114354KCNQ1,KCNQ1-AS1c.*4G>A (n.*4G>A)
n.542G>A
n.778-7565C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2848007G=CA1948349740KCNQ1,KCNQ1-AS1c.*4G= (n.*4G=)
n.542G=
n.778-7565C=
11g.2848007G>TCA2612011450KCNQ1,KCNQ1-AS1c.*4G>T (n.*4G>T)
n.542G>T
n.778-7565C>A
 gnomAD v4
11g.2848010dupCA5822088KCNQ1,KCNQ1-AS1c.*7dup (n.*7dup)
n.545dup
n.778-7565dup
 dbSNP ExAC gnomAD v4
11g.2848010delCA597114355KCNQ1,KCNQ1-AS1c.*7del (n.*7del)
n.545del
n.778-7565del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2848016_2848028delCA597114356KCNQ1,KCNQ1-AS1c.*13_*25del (n.*13_*25del)
n.551_563del
n.778-7577_778-7565del
 dbSNP gnomAD v2 gnomAD v4
11g.2848008G>ACA597114357KCNQ1,KCNQ1-AS1c.*5G>A (n.*5G>A)
n.543G>A
n.778-7566C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2848008G=CA1948349741KCNQ1,KCNQ1-AS1c.*5G= (n.*5G=)
n.543G=
n.778-7566C=
11g.2848008G>TCA2612011451KCNQ1,KCNQ1-AS1c.*5G>T (n.*5G>T)
n.543G>T
n.778-7566C>A
 dbSNP gnomAD v4
11g.2848009G>ACA1139661767KCNQ1,KCNQ1-AS1c.*6G>A (n.*6G>A)
n.544G>A
n.778-7567C>T
 ClinVar dbSNP gnomAD v4
11g.2848009G=CA1948349742KCNQ1,KCNQ1-AS1c.*6G= (n.*6G=)
n.544G=
n.778-7567C=
11g.2848009G>TCA675201855KCNQ1,KCNQ1-AS1c.*6G>T (n.*6G>T)
n.544G>T
n.778-7567C>A
 dbSNP gnomAD v4
11g.2848010G>ACA2590572380KCNQ1,KCNQ1-AS1c.*7G>A (n.*7G>A)
n.545G>A
n.778-7568C>T
 dbSNP gnomAD v3 gnomAD v4
11g.2848010G>TCA2612011452KCNQ1,KCNQ1-AS1c.*7G>T (n.*7G>T)
n.545G>T
n.778-7568C>A
 gnomAD v4
11g.2848010_2848011delinsGACA1948349743KCNQ1,KCNQ1-AS1c.*7_*8delinsGA (n.*7_*8delinsGA)
n.545_546delinsGA
n.778-7569_778-7568delinsTC
11g.2848011delCA216345472KCNQ1,KCNQ1-AS1c.*8del (n.*8del)
n.546del
n.778-7569del
 dbSNP gnomAD v3 gnomAD v4
11g.2848011A>GCA2612011453KCNQ1,KCNQ1-AS1c.*8A>G (n.*8A>G)
n.546A>G
n.778-7569T>C
 gnomAD v4
11g.2848011A>TCA2612011454KCNQ1,KCNQ1-AS1c.*8A>T (n.*8A>T)
n.546A>T
n.778-7569T>A
 dbSNP gnomAD v4
11g.2848012T>CCA2612011455KCNQ1,KCNQ1-AS1c.*9T>C (n.*9T>C)
n.547T>C
n.778-7570A>G
 gnomAD v4
11g.2848013G>ACA2612011457KCNQ1,KCNQ1-AS1c.*10G>A (n.*10G>A)
n.548G>A
n.778-7571C>T
 gnomAD v4
11g.2848013G>TCA2612011458KCNQ1,KCNQ1-AS1c.*10G>T (n.*10G>T)
n.548G>T
n.778-7571C>A
 gnomAD v4
11g.2848016delCA2574728567KCNQ1,KCNQ1-AS1c.*13del (n.*13del)
n.551del
n.778-7571del
 gnomAD v4
11g.2848015_2848016delCA2612011456KCNQ1,KCNQ1-AS1c.*12_*13del (n.*12_*13del)
n.550_551del
n.778-7572_778-7571del
 gnomAD v4
11g.2848014G>ACA2612011459KCNQ1,KCNQ1-AS1c.*11G>A (n.*11G>A)
n.549G>A
n.778-7572C>T
 gnomAD v4
11g.2848014G>TCA2612011460KCNQ1,KCNQ1-AS1c.*11G>T (n.*11G>T)
n.549G>T
n.778-7572C>A
 gnomAD v4
11g.2848015G>ACA2612011461KCNQ1,KCNQ1-AS1c.*12G>A (n.*12G>A)
n.550G>A
n.778-7573C>T
 gnomAD v4
11g.2848015G>TCA2612011462KCNQ1,KCNQ1-AS1c.*12G>T (n.*12G>T)
n.550G>T
n.778-7573C>A
 gnomAD v4
11g.2848016G>ACA2612011463KCNQ1,KCNQ1-AS1c.*13G>A (n.*13G>A)
n.551G>A
n.778-7574C>T
 gnomAD v4
11g.2848016G>CCA2574728568KCNQ1,KCNQ1-AS1c.*13G>C (n.*13G>C)
n.551G>C
n.778-7574C>G
11g.2848016G=CA1948349744KCNQ1,KCNQ1-AS1c.*13G= (n.*13G=)
n.551G=
n.778-7574C=
11g.2848016G>TCA2612011464KCNQ1,KCNQ1-AS1c.*13G>T (n.*13G>T)
n.551G>T
n.778-7574C>A
 gnomAD v4
11g.2848017C>ACA597114358KCNQ1,KCNQ1-AS1c.*14C>A (n.*14C>A)
n.552C>A
n.778-7575G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2848017C=CA1948349746KCNQ1,KCNQ1-AS1c.*14C= (n.*14C=)
n.552C=
n.778-7575G=
11g.2848017C>TCA2574728569KCNQ1,KCNQ1-AS1c.*14C>T (n.*14C>T)
n.552C>T
n.778-7575G>A
 gnomAD v4
11g.2848017_2848024delinsCTGGGGGACA1948349745KCNQ1,KCNQ1-AS1c.*14_*21delinsCTGGGGGA (n.*14_*21delinsCTGGGGGA)
n.552_559delinsCTGGGGGA
n.778-7582_778-7575delinsTCCCCCAG
11g.2848020_2848032dupCA5822089KCNQ1,KCNQ1-AS1c.*17_*29dup (n.*17_*29dup)
n.555_567dup
n.778-7587_778-7575dup
 dbSNP ExAC gnomAD v4
11g.2848018T>CCA2612011466KCNQ1,KCNQ1-AS1c.*15T>C (n.*15T>C)
n.553T>C
n.778-7576A>G
 gnomAD v4
11g.2848018_2848019delinsTGCA1948349747KCNQ1,KCNQ1-AS1c.*15_*16delinsTG (n.*15_*16delinsTG)
n.553_554delinsTG
n.778-7577_778-7576delinsCA
11g.2848022_2848028delCA216345494KCNQ1,KCNQ1-AS1c.*19_*25del (n.*19_*25del)
n.557_563del
n.778-7582_778-7576del
 dbSNP gnomAD v3 gnomAD v4
11g.2848019G>ACA597114359KCNQ1,KCNQ1-AS1c.*16G>A (n.*16G>A)
n.554G>A
n.778-7577C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2848019G=CA1948349748KCNQ1,KCNQ1-AS1c.*16G= (n.*16G=)
n.554G=
n.778-7577C=
11g.2848019G>TCA2612011467KCNQ1,KCNQ1-AS1c.*16G>T (n.*16G>T)
n.554G>T
n.778-7577C>A
 gnomAD v4
11g.2848023delCA032175KCNQ1,KCNQ1-AS1c.*20del (n.*20del)
n.558del
n.778-7577del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2848020G>ACA2574728570KCNQ1,KCNQ1-AS1c.*17G>A (n.*17G>A)
n.555G>A
n.778-7578C>T
 gnomAD v4
11g.2848020G>TCA2612011468KCNQ1,KCNQ1-AS1c.*17G>T (n.*17G>T)
n.555G>T
n.778-7578C>A
 gnomAD v4
11g.2848021G>ACA675201858KCNQ1,KCNQ1-AS1c.*18G>A (n.*18G>A)
n.556G>A
n.778-7579C>T
 dbSNP
11g.2848021G=CA1948349749KCNQ1,KCNQ1-AS1c.*18G= (n.*18G=)
n.556G=
n.778-7579C=
11g.2848021G>TCA2612011469KCNQ1,KCNQ1-AS1c.*18G>T (n.*18G>T)
n.556G>T
n.778-7579C>A
 gnomAD v4
11g.2848022G>ACA597114360KCNQ1,KCNQ1-AS1c.*19G>A (n.*19G>A)
n.557G>A
n.778-7580C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2848022G=CA1948349750KCNQ1,KCNQ1-AS1c.*19G= (n.*19G=)
n.557G=
n.778-7580C=
11g.2848022G>TCA1948349751KCNQ1,KCNQ1-AS1c.*19G>T (n.*19G>T)
n.557G>T
n.778-7580C>A
 dbSNP gnomAD v4
11g.2848023G>ACA2574728571KCNQ1,KCNQ1-AS1c.*20G>A (n.*20G>A)
n.558G>A
n.778-7581C>T
 gnomAD v4
11g.2848023G>CCA2612011470KCNQ1,KCNQ1-AS1c.*20G>C (n.*20G>C)
n.558G>C
n.778-7581C>G
 gnomAD v4
11g.2848023G>TCA2612011471KCNQ1,KCNQ1-AS1c.*20G>T (n.*20G>T)
n.558G>T
n.778-7581C>A
 gnomAD v4
11g.2848024A>GCA2612011472KCNQ1,KCNQ1-AS1c.*21A>G (n.*21A>G)
n.559A>G
n.778-7582T>C
 gnomAD v4
11g.2848025T>CCA034521KCNQ1,KCNQ1-AS1c.*22T>C (n.*22T>C)
n.560T>C
n.778-7583A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2848025T=CA1948349752KCNQ1,KCNQ1-AS1c.*22T= (n.*22T=)
n.560T=
n.778-7583A=
11g.2848026G>ACA216345514KCNQ1,KCNQ1-AS1c.*23G>A (n.*23G>A)
n.561G>A
n.778-7584C>T
 dbSNP gnomAD v4
11g.2848026G>CCA2612011475KCNQ1,KCNQ1-AS1c.*23G>C (n.*23G>C)
n.561G>C
n.778-7584C>G
 gnomAD v4
11g.2848026G=CA1948349753KCNQ1,KCNQ1-AS1c.*23G= (n.*23G=)
n.561G=
n.778-7584C=
11g.2848026G>TCA2612011474KCNQ1,KCNQ1-AS1c.*23G>T (n.*23G>T)
n.561G>T
n.778-7584C>A
 gnomAD v4
11g.2848028delCA2612011473KCNQ1,KCNQ1-AS1c.*25del (n.*25del)
n.563del
n.778-7584del
 gnomAD v4
11g.2848027G>ACA2612011476KCNQ1,KCNQ1-AS1c.*24G>A (n.*24G>A)
n.562G>A
n.778-7585C>T
 gnomAD v4
11g.2848027G>TCA2612011477KCNQ1,KCNQ1-AS1c.*24G>T (n.*24G>T)
n.562G>T
n.778-7585C>A
 gnomAD v4
11g.2848028G>ACA597114362KCNQ1,KCNQ1-AS1c.*25G>A (n.*25G>A)
n.563G>A
n.778-7586C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2848028G=CA1948349754KCNQ1,KCNQ1-AS1c.*25G= (n.*25G=)
n.563G=
n.778-7586C=
11g.2848028G>TCA597114361KCNQ1,KCNQ1-AS1c.*25G>T (n.*25G>T)
n.563G>T
n.778-7586C>A
 dbSNP gnomAD v2 gnomAD v4
11g.2848029C>ACA10630692KCNQ1,KCNQ1-AS1c.*26C>A (n.*26C>A)
n.564C>A
n.778-7587G>T
 ClinVar dbSNP gnomAD v4
11g.2848029C=CA1948349755KCNQ1,KCNQ1-AS1c.*26C= (n.*26C=)
n.564C=
n.778-7587G=
11g.2848029C>TCA216345527KCNQ1,KCNQ1-AS1c.*26C>T (n.*26C>T)
n.564C>T
n.778-7587G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2848030C>ACA2574728572KCNQ1,KCNQ1-AS1c.*27C>A (n.*27C>A)
n.565C>A
n.778-7588G>T
 gnomAD v4
11g.2848030_2848034delinsCTGAGCA1948349756KCNQ1,KCNQ1-AS1c.*27_*31delinsCTGAG (n.*27_*31delinsCTGAG)
n.565_569delinsCTGAG
n.778-7592_778-7588delinsCTCAG
11g.2848031T>CCA2612011479KCNQ1,KCNQ1-AS1c.*28T>C (n.*28T>C)
n.566T>C
n.778-7589A>G
 gnomAD v4
11g.2848031T>GCA2612011480KCNQ1,KCNQ1-AS1c.*28T>G (n.*28T>G)
n.566T>G
n.778-7589A>C
 gnomAD v4
11g.2848035_2848038delCA934490972KCNQ1,KCNQ1-AS1c.*32_*35del (n.*32_*35del)
n.570_573del
n.778-7592_778-7589del
 dbSNP gnomAD v3 gnomAD v4
11g.2848032G>ACA2612011482KCNQ1,KCNQ1-AS1c.*29G>A (n.*29G>A)
n.567G>A
n.778-7590C>T
 gnomAD v4
11g.2848032G>CCA2612011483KCNQ1,KCNQ1-AS1c.*29G>C (n.*29G>C)
n.567G>C
n.778-7590C>G
 gnomAD v4
11g.2848032G>TCA2612011481KCNQ1,KCNQ1-AS1c.*29G>T (n.*29G>T)
n.567G>T
n.778-7590C>A
 gnomAD v4
11g.2848033A>GCA2612011484KCNQ1,KCNQ1-AS1c.*30A>G (n.*30A>G)
n.568A>G
n.778-7591T>C
 gnomAD v4
11g.2848034G>ACA597114363KCNQ1,KCNQ1-AS1c.*31G>A (n.*31G>A)
n.569G>A
n.778-7592C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2848034G=CA1948349757KCNQ1,KCNQ1-AS1c.*31G= (n.*31G=)
n.569G=
n.778-7592C=
11g.2848034G>TCA2612011485KCNQ1,KCNQ1-AS1c.*31G>T (n.*31G>T)
n.569G>T
n.778-7592C>A
 gnomAD v4
11g.2848035T>ACA1948349759KCNQ1,KCNQ1-AS1c.*32T>A (n.*32T>A)
n.570T>A
n.778-7593A>T
 dbSNP gnomAD v4
11g.2848035T>CCA2612011486KCNQ1,KCNQ1-AS1c.*32T>C (n.*32T>C)
n.570T>C
n.778-7593A>G
 gnomAD v4
11g.2848035T=CA1948349758KCNQ1,KCNQ1-AS1c.*32T= (n.*32T=)
n.570T=
n.778-7593A=
11g.2848036G>ACA2574728573KCNQ1,KCNQ1-AS1c.*33G>A (n.*33G>A)
n.571G>A
n.778-7594C>T
 gnomAD v4
11g.2848036G=CA1948349760KCNQ1,KCNQ1-AS1c.*33G= (n.*33G=)
n.571G=
n.778-7594C=
11g.2848036G>TCA597114364KCNQ1,KCNQ1-AS1c.*33G>T (n.*33G>T)
n.571G>T
n.778-7594C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2848037A=CA1948349761KCNQ1,KCNQ1-AS1c.*34A= (n.*34A=)
n.572A=
n.778-7595T=
11g.2848037A>GCA934490975KCNQ1,KCNQ1-AS1c.*34A>G (n.*34A>G)
n.572A>G
n.778-7595T>C
 dbSNP gnomAD v3 gnomAD v4
11g.2848037A>TCA2612011487KCNQ1,KCNQ1-AS1c.*34A>T (n.*34A>T)
n.572A>T
n.778-7595T>A
 gnomAD v4
11g.2848038G>ACA597114365KCNQ1,KCNQ1-AS1c.*35G>A (n.*35G>A)
n.573G>A
n.778-7596C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2848038G>CCA1948349763KCNQ1,KCNQ1-AS1c.*35G>C (n.*35G>C)
n.573G>C
n.778-7596C>G
 dbSNP
11g.2848038G=CA1948349762KCNQ1,KCNQ1-AS1c.*35G= (n.*35G=)
n.573G=
n.778-7596C=
11g.2848038G>TCA035172KCNQ1,KCNQ1-AS1c.*35G>T (n.*35G>T)
n.573G>T
n.778-7596C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2848039A>GCA2612011488KCNQ1,KCNQ1-AS1c.*36A>G (n.*36A>G)
n.574A>G
n.778-7597T>C
 gnomAD v4
11g.2848039_2848040delinsAGCA1948349764KCNQ1,KCNQ1-AS1c.*36_*37delinsAG (n.*36_*37delinsAG)
n.574_575delinsAG
n.778-7598_778-7597delinsCT
11g.2848040G>ACA2574728574KCNQ1,KCNQ1-AS1c.*37G>A (n.*37G>A)
n.575G>A
n.778-7598C>T
 gnomAD v4
11g.2848040G>TCA2612011489KCNQ1,KCNQ1-AS1c.*37G>T (n.*37G>T)
n.575G>T
n.778-7598C>A
 gnomAD v4
11g.2848043delCA597114366KCNQ1,KCNQ1-AS1c.*40del (n.*40del)
n.578del
n.778-7598del
 dbSNP gnomAD v2 gnomAD v4
11g.2848041G>ACA597114367KCNQ1,KCNQ1-AS1c.*38G>A (n.*38G>A)
n.576G>A
n.778-7599C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2848041G=CA1948349765KCNQ1,KCNQ1-AS1c.*38G= (n.*38G=)
n.576G=
n.778-7599C=
11g.2848041G>TCA2612011490KCNQ1,KCNQ1-AS1c.*38G>T (n.*38G>T)
n.576G>T
n.778-7599C>A
 gnomAD v4
11g.2848042G>ACA597114368KCNQ1,KCNQ1-AS1c.*39G>A (n.*39G>A)
n.577G>A
n.778-7600C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2848042G=CA1948349766KCNQ1,KCNQ1-AS1c.*39G= (n.*39G=)
n.577G=
n.778-7600C=
11g.2848042G>TCA2612011491KCNQ1,KCNQ1-AS1c.*39G>T (n.*39G>T)
n.577G>T
n.778-7600C>A
 gnomAD v4
11g.2848043G>ACA2612011492KCNQ1,KCNQ1-AS1c.*40G>A (n.*40G>A)
n.578G>A
n.778-7601C>T
 gnomAD v4
11g.2848043G>TCA2590572382KCNQ1,KCNQ1-AS1c.*40G>T (n.*40G>T)
n.578G>T
n.778-7601C>A
 dbSNP gnomAD v3 gnomAD v4
11g.2848044A=CA1948349767KCNQ1,KCNQ1-AS1c.*41A= (n.*41A=)
n.579A=
n.778-7602T=
11g.2848044A>GCA934490984KCNQ1,KCNQ1-AS1c.*41A>G (n.*41A>G)
n.579A>G
n.778-7602T>C
 dbSNP gnomAD v3 gnomAD v4
11g.2848047_2848079dupCA2612011493KCNQ1,KCNQ1-AS1c.*44_*76dup (n.*44_*76dup)
n.582_614dup
n.778-7634_778-7602dup
 gnomAD v4
11g.2848045G>ACA037112KCNQ1,KCNQ1-AS1c.*42G>A (n.*42G>A)
n.580G>A
n.778-7603C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2848045G=CA1948349768KCNQ1,KCNQ1-AS1c.*42G= (n.*42G=)
n.580G=
n.778-7603C=
11g.2848045G>TCA2612011494KCNQ1,KCNQ1-AS1c.*42G>T (n.*42G>T)
n.580G>T
n.778-7603C>A
 gnomAD v4
11g.2848046G>ACA597114369KCNQ1,KCNQ1-AS1c.*43G>A (n.*43G>A)
n.581G>A
n.778-7604C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2848046G>CCA2612011495KCNQ1,KCNQ1-AS1c.*43G>C (n.*43G>C)
n.581G>C
n.778-7604C>G
 gnomAD v4
11g.2848046G=CA1948349770KCNQ1,KCNQ1-AS1c.*43G= (n.*43G=)
n.581G=
n.778-7604C=
11g.2848046G>TCA2612011496KCNQ1,KCNQ1-AS1c.*43G>T (n.*43G>T)
n.581G>T
n.778-7604C>A
 gnomAD v4
11g.2848046_2848058delinsGCCAAGAGTGGCCCA1948349769KCNQ1,KCNQ1-AS1c.*43_*55delinsGCCAAGAGTGGCC (n.*43_*55delinsGCCAAGAGTGGCC)
n.581_593delinsGCCAAGAGTGGCC
n.778-7616_778-7604delinsGGCCACTCTTGGC
11g.2848047C>ACA2574728575KCNQ1,KCNQ1-AS1c.*44C>A (n.*44C>A)
n.582C>A
n.778-7605G>T
 gnomAD v4
11g.2848047C=CA1948349771KCNQ1,KCNQ1-AS1c.*44C= (n.*44C=)
n.582C=
n.778-7605G=
11g.2848047C>TCA597114370KCNQ1,KCNQ1-AS1c.*44C>T (n.*44C>T)
n.582C>T
n.778-7605G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2848050_2848061delCA037205KCNQ1,KCNQ1-AS1c.*47_*58del (n.*47_*58del)
n.585_596del
n.778-7616_778-7605del
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.2848048C>ACA2612011497KCNQ1,KCNQ1-AS1c.*45C>A (n.*45C>A)
n.583C>A
n.778-7606G>T
 gnomAD v4
11g.2848048C=CA1948349772KCNQ1,KCNQ1-AS1c.*45C= (n.*45C=)
n.583C=
n.778-7606G=
11g.2848048C>TCA597114371KCNQ1,KCNQ1-AS1c.*45C>T (n.*45C>T)
n.583C>T
n.778-7606G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2848049A>GCA2612011498KCNQ1,KCNQ1-AS1c.*46A>G (n.*46A>G)
n.584A>G
n.778-7607T>C
 gnomAD v4
11g.2848050A=CA1948349773KCNQ1,KCNQ1-AS1c.*47A= (n.*47A=)
n.585A=
n.778-7608T=
11g.2848050A>CCA037899KCNQ1,KCNQ1-AS1c.*47A>C (n.*47A>C)
n.585A>C
n.778-7608T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2848050A>GCA2612011499KCNQ1,KCNQ1-AS1c.*47A>G (n.*47A>G)
n.585A>G
n.778-7608T>C
 gnomAD v4
11g.2848051G>ACA2612011501KCNQ1,KCNQ1-AS1c.*48G>A (n.*48G>A)
n.586G>A
n.778-7609C>T
 gnomAD v4
11g.2848051G>TCA2612011500KCNQ1,KCNQ1-AS1c.*48G>T (n.*48G>T)
n.586G>T
n.778-7609C>A
 gnomAD v4

Number of alleles fetched