Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched