Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2768907G>ACA472459481KCNQ1c.1221G>A (p.Lys407=)
c.1038G>A (p.Lys346=)
c.1578G>A (p.Lys526=)
c.1197G>A (p.Lys399=)
c.684G>A (p.Lys228=)
 dbSNP gnomAD v4
11g.2768907G>CCA379139012KCNQ1c.1221G>C (p.Lys407Asn)
c.1038G>C (p.Lys346Asn)
c.1578G>C (p.Lys526Asn)
c.1197G>C (p.Lys399Asn)
c.684G>C (p.Lys228Asn)
11g.2768907G=CA1948310087KCNQ1c.1221G= (p.Lys407=)
c.1038G= (p.Lys346=)
c.1578G= (p.Lys526=)
c.1197G= (p.Lys399=)
c.684G= (p.Lys228=)
11g.2768907G>TCA379139013KCNQ1c.1221G>T (p.Lys407Asn)
c.1038G>T (p.Lys346Asn)
c.1578G>T (p.Lys526Asn)
c.1197G>T (p.Lys399Asn)
c.684G>T (p.Lys228Asn)
 ClinVar dbSNP
11g.2768908A>CCA379139014KCNQ1c.1222A>C (p.Lys408Gln)
c.1039A>C (p.Lys347Gln)
c.1579A>C (p.Lys527Gln)
c.1198A>C (p.Lys400Gln)
c.685A>C (p.Lys229Gln)
11g.2768908A>GCA379139015KCNQ1c.1222A>G (p.Lys408Glu)
c.1039A>G (p.Lys347Glu)
c.1579A>G (p.Lys527Glu)
c.1198A>G (p.Lys400Glu)
c.685A>G (p.Lys229Glu)
 ClinVar
11g.2768908A>TCA379139016KCNQ1c.1222A>T (p.Lys408Ter)
c.1039A>T (p.Lys347Ter)
c.1579A>T (p.Lys527Ter)
c.1198A>T (p.Lys400Ter)
c.685A>T (p.Lys229Ter)
11g.2768909A>CCA379139017KCNQ1c.1223A>C (p.Lys408Thr)
c.1040A>C (p.Lys347Thr)
c.1580A>C (p.Lys527Thr)
c.1199A>C (p.Lys400Thr)
c.686A>C (p.Lys229Thr)
11g.2768909A>GCA379139018KCNQ1c.1223A>G (p.Lys408Arg)
c.1040A>G (p.Lys347Arg)
c.1580A>G (p.Lys527Arg)
c.1199A>G (p.Lys400Arg)
c.686A>G (p.Lys229Arg)
11g.2768909A>TCA379139019KCNQ1c.1223A>T (p.Lys408Met)
c.1040A>T (p.Lys347Met)
c.1580A>T (p.Lys527Met)
c.1199A>T (p.Lys400Met)
c.686A>T (p.Lys229Met)
11g.2768910G>ACA472459483KCNQ1c.1224G>A (p.Lys408=)
c.1041G>A (p.Lys347=)
c.1581G>A (p.Lys527=)
c.1200G>A (p.Lys400=)
c.687G>A (p.Lys229=)
11g.2768910G>CCA379139020KCNQ1c.1224G>C (p.Lys408Asn)
c.1041G>C (p.Lys347Asn)
c.1581G>C (p.Lys527Asn)
c.1200G>C (p.Lys400Asn)
c.687G>C (p.Lys229Asn)
11g.2768910G>TCA379139021KCNQ1c.1224G>T (p.Lys408Asn)
c.1041G>T (p.Lys347Asn)
c.1581G>T (p.Lys527Asn)
c.1200G>T (p.Lys400Asn)
c.687G>T (p.Lys229Asn)
11g.2768911A>CCA379139022KCNQ1c.1225A>C (p.Lys409Gln)
c.1042A>C (p.Lys348Gln)
c.1582A>C (p.Lys528Gln)
c.1201A>C (p.Lys401Gln)
c.688A>C (p.Lys230Gln)
 gnomAD v4
11g.2768911A>GCA379139024KCNQ1c.1225A>G (p.Lys409Glu)
c.1042A>G (p.Lys348Glu)
c.1582A>G (p.Lys528Glu)
c.1201A>G (p.Lys401Glu)
c.688A>G (p.Lys230Glu)
11g.2768911A>TCA379139023KCNQ1c.1225A>T (p.Lys409Ter)
c.1042A>T (p.Lys348Ter)
c.1582A>T (p.Lys528Ter)
c.1201A>T (p.Lys401Ter)
c.688A>T (p.Lys230Ter)
11g.2768913delCA2612008636KCNQ1c.1227del (p.Lys409AsnfsTer?)
c.1044del (p.Lys348AsnfsTer?)
c.1584del (p.Lys528AsnfsTer?)
c.1203del (p.Lys401AsnfsTer?)
c.690del (p.Lys230AsnfsTer?)
 gnomAD v4
11g.2768912A=CA1948310090KCNQ1c.1226A= (p.Lys409=)
c.1043A= (p.Lys348=)
c.1583A= (p.Lys528=)
c.1202A= (p.Lys401=)
c.689A= (p.Lys230=)
11g.2768912A>CCA379139025KCNQ1c.1226A>C (p.Lys409Thr)
c.1043A>C (p.Lys348Thr)
c.1583A>C (p.Lys528Thr)
c.1202A>C (p.Lys401Thr)
c.689A>C (p.Lys230Thr)
11g.2768912A>GCA379139027KCNQ1c.1226A>G (p.Lys409Arg)
c.1043A>G (p.Lys348Arg)
c.1583A>G (p.Lys528Arg)
c.1202A>G (p.Lys401Arg)
c.689A>G (p.Lys230Arg)
 ClinVar dbSNP
11g.2768912A>TCA379139026KCNQ1c.1226A>T (p.Lys409Ile)
c.1043A>T (p.Lys348Ile)
c.1583A>T (p.Lys528Ile)
c.1202A>T (p.Lys401Ile)
c.689A>T (p.Lys230Ile)
11g.2768912_2768913insTACA2580082636KCNQ1c.1226_1227insTA (p.Lys409AsnfsTer?)
c.1043_1044insTA (p.Lys348AsnfsTer?)
c.1583_1584insTA (p.Lys528AsnfsTer?)
c.1202_1203insTA (p.Lys401AsnfsTer?)
c.689_690insTA (p.Lys230AsnfsTer?)
 ClinVar
11g.2768913A>CCA379139028KCNQ1c.1227A>C (p.Lys409Asn)
c.1044A>C (p.Lys348Asn)
c.1584A>C (p.Lys528Asn)
c.1203A>C (p.Lys401Asn)
c.690A>C (p.Lys230Asn)
11g.2768913A>GCA472459488KCNQ1c.1227A>G (p.Lys409=)
c.1044A>G (p.Lys348=)
c.1584A>G (p.Lys528=)
c.1203A>G (p.Lys401=)
c.690A>G (p.Lys230=)
11g.2768913A>TCA379139029KCNQ1c.1227A>T (p.Lys409Asn)
c.1044A>T (p.Lys348Asn)
c.1584A>T (p.Lys528Asn)
c.1203A>T (p.Lys401Asn)
c.690A>T (p.Lys230Asn)
11g.2768914T>ACA379139030KCNQ1c.1228T>A (p.Phe410Ile)
c.1045T>A (p.Phe349Ile)
c.1585T>A (p.Phe529Ile)
c.1204T>A (p.Phe402Ile)
c.691T>A (p.Phe231Ile)
11g.2768914T>CCA379139031KCNQ1c.1228T>C (p.Phe410Leu)
c.1045T>C (p.Phe349Leu)
c.1585T>C (p.Phe529Leu)
c.1204T>C (p.Phe402Leu)
c.691T>C (p.Phe231Leu)
11g.2768914T>GCA379139032KCNQ1c.1228T>G (p.Phe410Val)
c.1045T>G (p.Phe349Val)
c.1585T>G (p.Phe529Val)
c.1204T>G (p.Phe402Val)
c.691T>G (p.Phe231Val)
11g.2768915T>ACA379139033KCNQ1c.1229T>A (p.Phe410Tyr)
c.1046T>A (p.Phe349Tyr)
c.1586T>A (p.Phe529Tyr)
c.1205T>A (p.Phe402Tyr)
c.692T>A (p.Phe231Tyr)
11g.2768915T>CCA379139034KCNQ1c.1229T>C (p.Phe410Ser)
c.1046T>C (p.Phe349Ser)
c.1586T>C (p.Phe529Ser)
c.1205T>C (p.Phe402Ser)
c.692T>C (p.Phe231Ser)
11g.2768915T>GCA379139035KCNQ1c.1229T>G (p.Phe410Cys)
c.1046T>G (p.Phe349Cys)
c.1586T>G (p.Phe529Cys)
c.1205T>G (p.Phe402Cys)
c.692T>G (p.Phe231Cys)
11g.2768916C>ACA379139036KCNQ1c.1230C>A (p.Phe410Leu)
c.1047C>A (p.Phe349Leu)
c.1587C>A (p.Phe529Leu)
c.1206C>A (p.Phe402Leu)
c.693C>A (p.Phe231Leu)
 ClinVar
11g.2768916C>GCA379139037KCNQ1c.1230C>G (p.Phe410Leu)
c.1047C>G (p.Phe349Leu)
c.1587C>G (p.Phe529Leu)
c.1206C>G (p.Phe402Leu)
c.693C>G (p.Phe231Leu)
11g.2768916C>TCA472459490KCNQ1c.1230C>T (p.Phe410=)
c.1047C>T (p.Phe349=)
c.1587C>T (p.Phe529=)
c.1206C>T (p.Phe402=)
c.693C>T (p.Phe231=)
 ClinVar COSMIC COSMIC
11g.2768917C>ACA379139038KCNQ1c.1231C>A (p.Gln411Lys)
c.1048C>A (p.Gln350Lys)
c.1588C>A (p.Gln530Lys)
c.1207C>A (p.Gln403Lys)
c.694C>A (p.Gln232Lys)
11g.2768917C=CA1948310093KCNQ1c.1231C= (p.Gln411=)
c.1048C= (p.Gln350=)
c.1588C= (p.Gln530=)
c.1207C= (p.Gln403=)
c.694C= (p.Gln232=)
11g.2768917C>GCA379139039KCNQ1c.1231C>G (p.Gln411Glu)
c.1048C>G (p.Gln350Glu)
c.1588C>G (p.Gln530Glu)
c.1207C>G (p.Gln403Glu)
c.694C>G (p.Gln232Glu)
 gnomAD v4
11g.2768917C>TCA005967KCNQ1c.1231C>T (p.Gln411Ter)
c.1048C>T (p.Gln350Ter)
c.1588C>T (p.Gln530Ter)
c.1207C>T (p.Gln403Ter)
c.694C>T (p.Gln232Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2768918A=CA1948310098KCNQ1c.1232A= (p.Gln411=)
c.1049A= (p.Gln350=)
c.1589A= (p.Gln530=)
c.1208A= (p.Gln403=)
c.695A= (p.Gln232=)
11g.2768918A>CCA16606229KCNQ1c.1232A>C (p.Gln411Pro)
c.1049A>C (p.Gln350Pro)
c.1589A>C (p.Gln530Pro)
c.1208A>C (p.Gln403Pro)
c.695A>C (p.Gln232Pro)
 ClinVar dbSNP
11g.2768918A>GCA379139041KCNQ1c.1232A>G (p.Gln411Arg)
c.1049A>G (p.Gln350Arg)
c.1589A>G (p.Gln530Arg)
c.1208A>G (p.Gln403Arg)
c.695A>G (p.Gln232Arg)
11g.2768918A>TCA379139040KCNQ1c.1232A>T (p.Gln411Leu)
c.1049A>T (p.Gln350Leu)
c.1589A>T (p.Gln530Leu)
c.1208A>T (p.Gln403Leu)
c.695A>T (p.Gln232Leu)
11g.2768919G>ACA472459493KCNQ1c.1233G>A (p.Gln411=)
c.1050G>A (p.Gln350=)
c.1590G>A (p.Gln530=)
c.1209G>A (p.Gln403=)
c.696G>A (p.Gln232=)
 ClinVar dbSNP gnomAD v4
11g.2768919G>CCA379139042KCNQ1c.1233G>C (p.Gln411His)
c.1050G>C (p.Gln350His)
c.1590G>C (p.Gln530His)
c.1209G>C (p.Gln403His)
c.696G>C (p.Gln232His)
 dbSNP gnomAD v3 gnomAD v4
11g.2768919G=CA1948310103KCNQ1c.1233G= (p.Gln411=)
c.1050G= (p.Gln350=)
c.1590G= (p.Gln530=)
c.1209G= (p.Gln403=)
c.696G= (p.Gln232=)
11g.2768919G>TCA379139043KCNQ1c.1233G>T (p.Gln411His)
c.1050G>T (p.Gln350His)
c.1590G>T (p.Gln530His)
c.1209G>T (p.Gln403His)
c.696G>T (p.Gln232His)
 gnomAD v4
11g.2768920G>ACA031064KCNQ1c.1233+1G>A (n.1233+1G>A)
c.1050+1G>A (n.1050+1G>A)
c.1590+1G>A (n.1590+1G>A)
c.1209+1G>A (n.1209+1G>A)
c.696+1G>A (n.696+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2768920G>CCA379139044KCNQ1c.1233+1G>C (n.1233+1G>C)
c.1050+1G>C (n.1050+1G>C)
c.1590+1G>C (n.1590+1G>C)
c.1209+1G>C (n.1209+1G>C)
c.696+1G>C (n.696+1G>C)
11g.2768920G=CA1948310108KCNQ1c.1233+1G= (n.1233+1G=)
c.1050+1G= (n.1050+1G=)
c.1590+1G= (n.1590+1G=)
c.1209+1G= (n.1209+1G=)
c.696+1G= (n.696+1G=)
11g.2768920G>TCA379139045KCNQ1c.1233+1G>T (n.1233+1G>T)
c.1050+1G>T (n.1050+1G>T)
c.1590+1G>T (n.1590+1G>T)
c.1209+1G>T (n.1209+1G>T)
c.696+1G>T (n.696+1G>T)

Number of alleles fetched