Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2588710_2588712delinsAACA2695212958KCNQ1c.895-3_895-1delinsAA (n.895-3_895-1delinsAA)
c.712-3_712-1delinsAA (n.712-3_712-1delinsAA)
c.1252-3_1252-1delinsAA (n.1252-3_1252-1delinsAA)
c.871-3_871-1delinsAA (n.871-3_871-1delinsAA)
c.358-3_358-1delinsAA (n.358-3_358-1delinsAA)
11g.2588711_2588712delinsAGCA1948235342KCNQ1c.895-2_895-1delinsAG (n.895-2_895-1delinsAG)
c.712-2_712-1delinsAG (n.712-2_712-1delinsAG)
c.1252-2_1252-1delinsAG (n.1252-2_1252-1delinsAG)
c.871-2_871-1delinsAG (n.871-2_871-1delinsAG)
c.358-2_358-1delinsAG (n.358-2_358-1delinsAG)
11g.2588712G>ACA379134890KCNQ1c.895-1G>A (n.895-1G>A)
c.712-1G>A (n.712-1G>A)
c.1252-1G>A (n.1252-1G>A)
c.871-1G>A (n.871-1G>A)
c.358-1G>A (n.358-1G>A)
 ClinVar
11g.2588712G>CCA379134891KCNQ1c.895-1G>C (n.895-1G>C)
c.712-1G>C (n.712-1G>C)
c.1252-1G>C (n.1252-1G>C)
c.871-1G>C (n.871-1G>C)
c.358-1G>C (n.358-1G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2588712G=CA1948235347KCNQ1c.895-1G= (n.895-1G=)
c.712-1G= (n.712-1G=)
c.1252-1G= (n.1252-1G=)
c.871-1G= (n.871-1G=)
c.358-1G= (n.358-1G=)
11g.2588712G>TCA379134892KCNQ1c.895-1G>T (n.895-1G>T)
c.712-1G>T (n.712-1G>T)
c.1252-1G>T (n.1252-1G>T)
c.871-1G>T (n.871-1G>T)
c.358-1G>T (n.358-1G>T)
11g.2588713delCA005540KCNQ1c.895del
c.712del
c.1252del
c.871del
c.358del
 dbSNP
11g.2588713G>ACA028363KCNQ1c.895G>A (p.Val299Ile)
c.712G>A (p.Val238Ile)
c.1252G>A (p.Val418Ile)
c.871G>A (p.Val291Ile)
c.358G>A (p.Val120Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588713G>CCA379134894KCNQ1c.895G>C (p.Val299Leu)
c.712G>C (p.Val238Leu)
c.1252G>C (p.Val418Leu)
c.871G>C (p.Val291Leu)
c.358G>C (p.Val120Leu)
11g.2588713G=CA1948235354KCNQ1c.895G= (p.Val299=)
c.712G= (p.Val238=)
c.1252G= (p.Val418=)
c.871G= (p.Val291=)
c.358G= (p.Val120=)
11g.2588713G>TCA379134893KCNQ1c.895G>T (p.Val299Leu)
c.712G>T (p.Val238Leu)
c.1252G>T (p.Val418Leu)
c.871G>T (p.Val291Leu)
c.358G>T (p.Val120Leu)
11g.2588714T>ACA379134895KCNQ1c.896T>A (p.Val299Glu)
c.713T>A (p.Val238Glu)
c.1253T>A (p.Val418Glu)
c.872T>A (p.Val291Glu)
c.359T>A (p.Val120Glu)
11g.2588714T>CCA379134896KCNQ1c.896T>C (p.Val299Ala)
c.713T>C (p.Val238Ala)
c.1253T>C (p.Val418Ala)
c.872T>C (p.Val291Ala)
c.359T>C (p.Val120Ala)
11g.2588714T>GCA379134897KCNQ1c.896T>G (p.Val299Gly)
c.713T>G (p.Val238Gly)
c.1253T>G (p.Val418Gly)
c.872T>G (p.Val291Gly)
c.359T>G (p.Val120Gly)
 gnomAD v3 gnomAD v4
11g.2588715A>CCA472039678KCNQ1c.897A>C (p.Val299=)
c.714A>C (p.Val238=)
c.1254A>C (p.Val418=)
c.873A>C (p.Val291=)
c.360A>C (p.Val120=)
11g.2588715A>GCA472039679KCNQ1c.897A>G (p.Val299=)
c.714A>G (p.Val238=)
c.1254A>G (p.Val418=)
c.873A>G (p.Val291=)
c.360A>G (p.Val120=)
 gnomAD v4
11g.2588715A>TCA472039681KCNQ1c.897A>T (p.Val299=)
c.714A>T (p.Val238=)
c.1254A>T (p.Val418=)
c.873A>T (p.Val291=)
c.360A>T (p.Val120=)
11g.2588716A>CCA379134898KCNQ1c.898A>C (p.Lys300Gln)
c.715A>C (p.Lys239Gln)
c.1255A>C (p.Lys419Gln)
c.874A>C (p.Lys292Gln)
c.361A>C (p.Lys121Gln)
11g.2588716A>GCA379134900KCNQ1c.898A>G (p.Lys300Glu)
c.715A>G (p.Lys239Glu)
c.1255A>G (p.Lys419Glu)
c.874A>G (p.Lys292Glu)
c.361A>G (p.Lys121Glu)
11g.2588716A>TCA379134899KCNQ1c.898A>T (p.Lys300Ter)
c.715A>T (p.Lys239Ter)
c.1255A>T (p.Lys419Ter)
c.874A>T (p.Lys292Ter)
c.361A>T (p.Lys121Ter)
11g.2588717A=CA1948235359KCNQ1c.899A= (p.Lys300=)
c.716A= (p.Lys239=)
c.1256A= (p.Lys419=)
c.875A= (p.Lys292=)
c.362A= (p.Lys121=)
11g.2588717A>CCA379134901KCNQ1c.899A>C (p.Lys300Thr)
c.716A>C (p.Lys239Thr)
c.1256A>C (p.Lys419Thr)
c.875A>C (p.Lys292Thr)
c.362A>C (p.Lys121Thr)
 ClinVar dbSNP
11g.2588717A>GCA216334571KCNQ1c.899A>G (p.Lys300Arg)
c.716A>G (p.Lys239Arg)
c.1256A>G (p.Lys419Arg)
c.875A>G (p.Lys292Arg)
c.362A>G (p.Lys121Arg)
 ClinVar dbSNP gnomAD v4
11g.2588717A>TCA379134902KCNQ1c.899A>T (p.Lys300Met)
c.716A>T (p.Lys239Met)
c.1256A>T (p.Lys419Met)
c.875A>T (p.Lys292Met)
c.362A>T (p.Lys121Met)
11g.2588717_2588718delinsAGCA1948235363KCNQ1c.899_900delinsAG (p.Lys300=)
c.716_717delinsAG (p.Lys239=)
c.1256_1257delinsAG (p.Lys419=)
c.875_876delinsAG (p.Lys292=)
c.362_363delinsAG (p.Lys121=)
11g.2588718delCA658797569KCNQ1c.900del (p.Lys303SerfsTer10)
c.717del (p.Lys242SerfsTer10)
c.1257del (p.Lys422SerfsTer10)
c.876del (p.Lys295SerfsTer10)
c.363del (p.Lys124SerfsTer10)
 ClinVar dbSNP
11g.2588718G>ACA5822086KCNQ1c.900G>A (p.Lys300=)
c.717G>A (p.Lys239=)
c.1257G>A (p.Lys419=)
c.876G>A (p.Lys292=)
c.363G>A (p.Lys121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588718G>CCA379134903KCNQ1c.900G>C (p.Lys300Asn)
c.717G>C (p.Lys239Asn)
c.1257G>C (p.Lys419Asn)
c.876G>C (p.Lys292Asn)
c.363G>C (p.Lys121Asn)
 ClinVar
11g.2588718G=CA1948235385KCNQ1c.900G= (p.Lys300=)
c.717G= (p.Lys239=)
c.1257G= (p.Lys419=)
c.876G= (p.Lys292=)
c.363G= (p.Lys121=)
11g.2588718G>TCA216334581KCNQ1c.900G>T (p.Lys300Asn)
c.717G>T (p.Lys239Asn)
c.1257G>T (p.Lys419Asn)
c.876G>T (p.Lys292Asn)
c.363G>T (p.Lys121Asn)
 dbSNP gnomAD v4 COSMIC COSMIC
11g.2588718dupCA2612004396KCNQ1c.900dup (p.Lys301GlufsTer?)
c.717dup (p.Lys240GlufsTer?)
c.1257dup (p.Lys420GlufsTer?)
c.876dup (p.Lys293GlufsTer?)
c.363dup (p.Lys122GlufsTer?)
 gnomAD v4
11g.2588718_2588722delinsGAAAACA1948235380KCNQ1c.900_904delinsGAAAA (p.Lys300=)
c.717_721delinsGAAAA (p.Lys239=)
c.1257_1261delinsGAAAA (p.Lys419=)
c.876_880delinsGAAAA (p.Lys292=)
c.363_367delinsGAAAA (p.Lys121=)
11g.2588719A=CA1948235404KCNQ1c.901A= (p.Lys301=)
c.718A= (p.Lys240=)
c.1258A= (p.Lys420=)
c.877A= (p.Lys293=)
c.364A= (p.Lys122=)
11g.2588719A>CCA379134904KCNQ1c.901A>C (p.Lys301Gln)
c.718A>C (p.Lys240Gln)
c.1258A>C (p.Lys420Gln)
c.877A>C (p.Lys293Gln)
c.364A>C (p.Lys122Gln)
11g.2588719A>GCA379134905KCNQ1c.901A>G (p.Lys301Glu)
c.718A>G (p.Lys240Glu)
c.1258A>G (p.Lys420Glu)
c.877A>G (p.Lys293Glu)
c.364A>G (p.Lys122Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.2588719A>TCA379134906KCNQ1c.901A>T (p.Lys301Ter)
c.718A>T (p.Lys240Ter)
c.1258A>T (p.Lys420Ter)
c.877A>T (p.Lys293Ter)
c.364A>T (p.Lys122Ter)
11g.2588726dupCA005547KCNQ1c.908dup (p.Phe304ValfsTer?)
c.725dup (p.Phe243ValfsTer?)
c.1265dup (p.Phe423ValfsTer?)
c.884dup (p.Phe296ValfsTer?)
c.371dup (p.Phe125ValfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588726delCA005556KCNQ1c.908del (p.Lys303SerfsTer10)
c.725del (p.Lys242SerfsTer10)
c.1265del (p.Lys422SerfsTer10)
c.884del (p.Lys295SerfsTer10)
c.371del (p.Lys124SerfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2588723_2588726delCA1139661779KCNQ1c.905_908del (p.Lys302SerfsTer10)
c.722_725del (p.Lys241SerfsTer10)
c.1262_1265del (p.Lys421SerfsTer10)
c.881_884del (p.Lys294SerfsTer10)
c.368_371del (p.Lys123SerfsTer10)
 ClinVar dbSNP
11g.2588720A>CCA379134908KCNQ1c.902A>C (p.Lys301Thr)
c.719A>C (p.Lys240Thr)
c.1259A>C (p.Lys420Thr)
c.878A>C (p.Lys293Thr)
c.365A>C (p.Lys122Thr)
11g.2588720A>GCA379134909KCNQ1c.902A>G (p.Lys301Arg)
c.719A>G (p.Lys240Arg)
c.1259A>G (p.Lys420Arg)
c.878A>G (p.Lys293Arg)
c.365A>G (p.Lys122Arg)
 ClinVar
11g.2588720A>TCA379134907KCNQ1c.902A>T (p.Lys301Ile)
c.719A>T (p.Lys240Ile)
c.1259A>T (p.Lys420Ile)
c.878A>T (p.Lys293Ile)
c.365A>T (p.Lys122Ile)
 gnomAD v4
11g.2588721A>CCA379134910KCNQ1c.903A>C (p.Lys301Asn)
c.720A>C (p.Lys240Asn)
c.1260A>C (p.Lys420Asn)
c.879A>C (p.Lys293Asn)
c.366A>C (p.Lys122Asn)
11g.2588721A>GCA472039698KCNQ1c.903A>G (p.Lys301=)
c.720A>G (p.Lys240=)
c.1260A>G (p.Lys420=)
c.879A>G (p.Lys293=)
c.366A>G (p.Lys122=)
 ClinVar gnomAD v4
11g.2588721A>TCA379134911KCNQ1c.903A>T (p.Lys301Asn)
c.720A>T (p.Lys240Asn)
c.1260A>T (p.Lys420Asn)
c.879A>T (p.Lys293Asn)
c.366A>T (p.Lys122Asn)
11g.2588722A>CCA379134913KCNQ1c.904A>C (p.Lys302Gln)
c.721A>C (p.Lys241Gln)
c.1261A>C (p.Lys421Gln)
c.880A>C (p.Lys294Gln)
c.367A>C (p.Lys123Gln)
11g.2588722A>GCA379134912KCNQ1c.904A>G (p.Lys302Glu)
c.721A>G (p.Lys241Glu)
c.1261A>G (p.Lys421Glu)
c.880A>G (p.Lys294Glu)
c.367A>G (p.Lys123Glu)
11g.2588722A>TCA379134914KCNQ1c.904A>T (p.Lys302Ter)
c.721A>T (p.Lys241Ter)
c.1261A>T (p.Lys421Ter)
c.880A>T (p.Lys294Ter)
c.367A>T (p.Lys123Ter)
11g.2588723A>CCA379134916KCNQ1c.905A>C (p.Lys302Thr)
c.722A>C (p.Lys241Thr)
c.1262A>C (p.Lys421Thr)
c.881A>C (p.Lys294Thr)
c.368A>C (p.Lys123Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.2588723A>GCA379134915KCNQ1c.905A>G (p.Lys302Arg)
c.722A>G (p.Lys241Arg)
c.1262A>G (p.Lys421Arg)
c.881A>G (p.Lys294Arg)
c.368A>G (p.Lys123Arg)
11g.2588723A>TCA379134917KCNQ1c.905A>T (p.Lys302Ile)
c.722A>T (p.Lys241Ile)
c.1262A>T (p.Lys421Ile)
c.881A>T (p.Lys294Ile)
c.368A>T (p.Lys123Ile)
11g.2588724A=CA1948235420KCNQ1c.906A= (p.Lys302=)
c.723A= (p.Lys241=)
c.1263A= (p.Lys421=)
c.882A= (p.Lys294=)
c.369A= (p.Lys123=)
11g.2588724A>CCA379134918KCNQ1c.906A>C (p.Lys302Asn)
c.723A>C (p.Lys241Asn)
c.1263A>C (p.Lys421Asn)
c.882A>C (p.Lys294Asn)
c.369A>C (p.Lys123Asn)
11g.2588724A>GCA028421KCNQ1c.906A>G (p.Lys302=)
c.723A>G (p.Lys241=)
c.1263A>G (p.Lys421=)
c.882A>G (p.Lys294=)
c.369A>G (p.Lys123=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.2588724A>TCA379134919KCNQ1c.906A>T (p.Lys302Asn)
c.723A>T (p.Lys241Asn)
c.1263A>T (p.Lys421Asn)
c.882A>T (p.Lys294Asn)
c.369A>T (p.Lys123Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.2588725A=CA1948235429KCNQ1c.907A= (p.Lys303=)
c.724A= (p.Lys242=)
c.1264A= (p.Lys422=)
c.883A= (p.Lys295=)
c.370A= (p.Lys124=)
11g.2588725A>CCA379134921KCNQ1c.907A>C (p.Lys303Gln)
c.724A>C (p.Lys242Gln)
c.1264A>C (p.Lys422Gln)
c.883A>C (p.Lys295Gln)
c.370A>C (p.Lys124Gln)
11g.2588725A>GCA379134920KCNQ1c.907A>G (p.Lys303Glu)
c.724A>G (p.Lys242Glu)
c.1264A>G (p.Lys422Glu)
c.883A>G (p.Lys295Glu)
c.370A>G (p.Lys124Glu)
 ClinVar dbSNP
11g.2588725A>TCA379134922KCNQ1c.907A>T (p.Lys303Ter)
c.724A>T (p.Lys242Ter)
c.1264A>T (p.Lys422Ter)
c.883A>T (p.Lys295Ter)
c.370A>T (p.Lys124Ter)
11g.2588726A=CA1948235437KCNQ1c.908A= (p.Lys303=)
c.725A= (p.Lys242=)
c.1265A= (p.Lys422=)
c.884A= (p.Lys295=)
c.371A= (p.Lys124=)
11g.2588726A>CCA005552KCNQ1c.908A>C (p.Lys303Thr)
c.725A>C (p.Lys242Thr)
c.1265A>C (p.Lys422Thr)
c.884A>C (p.Lys295Thr)
c.371A>C (p.Lys124Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588726A>GCA379134923KCNQ1c.908A>G (p.Lys303Arg)
c.725A>G (p.Lys242Arg)
c.1265A>G (p.Lys422Arg)
c.884A>G (p.Lys295Arg)
c.371A>G (p.Lys124Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2588726A>TCA379134924KCNQ1c.908A>T (p.Lys303Met)
c.725A>T (p.Lys242Met)
c.1265A>T (p.Lys422Met)
c.884A>T (p.Lys295Met)
c.371A>T (p.Lys124Met)
11g.2588726_2588727insCCA2695212959KCNQ1c.908_909insC (p.Lys303AsnfsTer?)
c.725_726insC (p.Lys242AsnfsTer?)
c.1265_1266insC (p.Lys422AsnfsTer?)
c.884_885insC (p.Lys295AsnfsTer?)
c.371_372insC (p.Lys124AsnfsTer?)
11g.2588727G>ACA472039710KCNQ1c.909G>A (p.Lys303=)
c.726G>A (p.Lys242=)
c.1266G>A (p.Lys422=)
c.885G>A (p.Lys295=)
c.372G>A (p.Lys124=)
 ClinVar dbSNP
11g.2588727G>CCA379134925KCNQ1c.909G>C (p.Lys303Asn)
c.726G>C (p.Lys242Asn)
c.1266G>C (p.Lys422Asn)
c.885G>C (p.Lys295Asn)
c.372G>C (p.Lys124Asn)
 dbSNP gnomAD v4
11g.2588727G=CA1948235443KCNQ1c.909G= (p.Lys303=)
c.726G= (p.Lys242=)
c.1266G= (p.Lys422=)
c.885G= (p.Lys295=)
c.372G= (p.Lys124=)
11g.2588727G>TCA379134926KCNQ1c.909G>T (p.Lys303Asn)
c.726G>T (p.Lys242Asn)
c.1266G>T (p.Lys422Asn)
c.885G>T (p.Lys295Asn)
c.372G>T (p.Lys124Asn)
 gnomAD v4
11g.2588727dupCA2695212960KCNQ1c.909dup (p.Phe304ValfsTer?)
c.726dup (p.Phe243ValfsTer?)
c.1266dup (p.Phe423ValfsTer?)
c.885dup (p.Phe296ValfsTer?)
c.372dup (p.Phe125ValfsTer?)
11g.2588728T>ACA379134927KCNQ1c.910T>A (p.Phe304Ile)
c.727T>A (p.Phe243Ile)
c.1267T>A (p.Phe423Ile)
c.886T>A (p.Phe296Ile)
c.373T>A (p.Phe125Ile)
11g.2588728T>CCA379134928KCNQ1c.910T>C (p.Phe304Leu)
c.727T>C (p.Phe243Leu)
c.1267T>C (p.Phe423Leu)
c.886T>C (p.Phe296Leu)
c.373T>C (p.Phe125Leu)
 gnomAD v4
11g.2588728T>GCA379134929KCNQ1c.910T>G (p.Phe304Val)
c.727T>G (p.Phe243Val)
c.1267T>G (p.Phe423Val)
c.886T>G (p.Phe296Val)
c.373T>G (p.Phe125Val)
11g.2588729T>ACA379134930KCNQ1c.911T>A (p.Phe304Tyr)
c.728T>A (p.Phe243Tyr)
c.1268T>A (p.Phe423Tyr)
c.887T>A (p.Phe296Tyr)
c.374T>A (p.Phe125Tyr)
 dbSNP
11g.2588729T>CCA379134931KCNQ1c.911T>C (p.Phe304Ser)
c.728T>C (p.Phe243Ser)
c.1268T>C (p.Phe423Ser)
c.887T>C (p.Phe296Ser)
c.374T>C (p.Phe125Ser)
11g.2588729T>GCA379134932KCNQ1c.911T>G (p.Phe304Cys)
c.728T>G (p.Phe243Cys)
c.1268T>G (p.Phe423Cys)
c.887T>G (p.Phe296Cys)
c.374T>G (p.Phe125Cys)
 dbSNP
11g.2588729T=CA1948235451KCNQ1c.911T= (p.Phe304=)
c.728T= (p.Phe243=)
c.1268T= (p.Phe423=)
c.887T= (p.Phe296=)
c.374T= (p.Phe125=)
11g.2588730C>ACA379134933KCNQ1c.912C>A (p.Phe304Leu)
c.729C>A (p.Phe243Leu)
c.1269C>A (p.Phe423Leu)
c.888C>A (p.Phe296Leu)
c.375C>A (p.Phe125Leu)
 COSMIC
11g.2588730C>GCA379134934KCNQ1c.912C>G (p.Phe304Leu)
c.729C>G (p.Phe243Leu)
c.1269C>G (p.Phe423Leu)
c.888C>G (p.Phe296Leu)
c.375C>G (p.Phe125Leu)
11g.2588730C>TCA472039716KCNQ1c.912C>T (p.Phe304=)
c.729C>T (p.Phe243=)
c.1269C>T (p.Phe423=)
c.888C>T (p.Phe296=)
c.375C>T (p.Phe125=)
11g.2588731A>CCA379134937KCNQ1c.913A>C (p.Lys305Gln)
c.730A>C (p.Lys244Gln)
c.1270A>C (p.Lys424Gln)
c.889A>C (p.Lys297Gln)
c.376A>C (p.Lys126Gln)
11g.2588731A>GCA379134936KCNQ1c.913A>G (p.Lys305Glu)
c.730A>G (p.Lys244Glu)
c.1270A>G (p.Lys424Glu)
c.889A>G (p.Lys297Glu)
c.376A>G (p.Lys126Glu)
11g.2588731A>TCA379134935KCNQ1c.913A>T (p.Lys305Ter)
c.730A>T (p.Lys244Ter)
c.1270A>T (p.Lys424Ter)
c.889A>T (p.Lys297Ter)
c.376A>T (p.Lys126Ter)
11g.2588732A=CA1948235455KCNQ1c.914A= (p.Lys305=)
c.731A= (p.Lys244=)
c.1271A= (p.Lys424=)
c.890A= (p.Lys297=)
c.377A= (p.Lys126=)
11g.2588732A>CCA379134938KCNQ1c.914A>C (p.Lys305Thr)
c.731A>C (p.Lys244Thr)
c.1271A>C (p.Lys424Thr)
c.890A>C (p.Lys297Thr)
c.377A>C (p.Lys126Thr)
 dbSNP gnomAD v2
11g.2588732A>GCA379134939KCNQ1c.914A>G (p.Lys305Arg)
c.731A>G (p.Lys244Arg)
c.1271A>G (p.Lys424Arg)
c.890A>G (p.Lys297Arg)
c.377A>G (p.Lys126Arg)
11g.2588732A>TCA379134940KCNQ1c.914A>T (p.Lys305Met)
c.731A>T (p.Lys244Met)
c.1271A>T (p.Lys424Met)
c.890A>T (p.Lys297Met)
c.377A>T (p.Lys126Met)
11g.2588733G>ACA472039722KCNQ1c.915G>A (p.Lys305=)
c.732G>A (p.Lys244=)
c.1272G>A (p.Lys424=)
c.891G>A (p.Lys297=)
c.378G>A (p.Lys126=)
 ClinVar
11g.2588733G>CCA379134941KCNQ1c.915G>C (p.Lys305Asn)
c.732G>C (p.Lys244Asn)
c.1272G>C (p.Lys424Asn)
c.891G>C (p.Lys297Asn)
c.378G>C (p.Lys126Asn)
 gnomAD v4
11g.2588733G>TCA379134942KCNQ1c.915G>T (p.Lys305Asn)
c.732G>T (p.Lys244Asn)
c.1272G>T (p.Lys424Asn)
c.891G>T (p.Lys297Asn)
c.378G>T (p.Lys126Asn)
11g.2588734C>ACA379134943KCNQ1c.916C>A (p.Leu306Met)
c.733C>A (p.Leu245Met)
c.1273C>A (p.Leu425Met)
c.892C>A (p.Leu298Met)
c.379C>A (p.Leu127Met)
11g.2588734C=CA1948235462KCNQ1c.916C= (p.Leu306=)
c.733C= (p.Leu245=)
c.1273C= (p.Leu425=)
c.892C= (p.Leu298=)
c.379C= (p.Leu127=)
11g.2588734C>GCA379134944KCNQ1c.916C>G (p.Leu306Val)
c.733C>G (p.Leu245Val)
c.1273C>G (p.Leu425Val)
c.892C>G (p.Leu298Val)
c.379C>G (p.Leu127Val)
 dbSNP gnomAD v2 gnomAD v4
11g.2588734C>TCA472039726KCNQ1c.916C>T (p.Leu306=)
c.733C>T (p.Leu245=)
c.1273C>T (p.Leu425=)
c.892C>T (p.Leu298=)
c.379C>T (p.Leu127=)
11g.2588735T>ACA379134945KCNQ1c.917T>A (p.Leu306Gln)
c.734T>A (p.Leu245Gln)
c.1274T>A (p.Leu425Gln)
c.893T>A (p.Leu298Gln)
c.380T>A (p.Leu127Gln)
11g.2588735T>CCA379134946KCNQ1c.917T>C (p.Leu306Pro)
c.734T>C (p.Leu245Pro)
c.1274T>C (p.Leu425Pro)
c.893T>C (p.Leu298Pro)
c.380T>C (p.Leu127Pro)
11g.2588735T>GCA379134947KCNQ1c.917T>G (p.Leu306Arg)
c.734T>G (p.Leu245Arg)
c.1274T>G (p.Leu425Arg)
c.893T>G (p.Leu298Arg)
c.380T>G (p.Leu127Arg)
11g.2588736G>ACA472039728KCNQ1c.918G>A (p.Leu306=)
c.735G>A (p.Leu245=)
c.1275G>A (p.Leu425=)
c.894G>A (p.Leu298=)
c.381G>A (p.Leu127=)
 dbSNP gnomAD v4
11g.2588736G>CCA472039729KCNQ1c.918G>C (p.Leu306=)
c.735G>C (p.Leu245=)
c.1275G>C (p.Leu425=)
c.894G>C (p.Leu298=)
c.381G>C (p.Leu127=)
 dbSNP gnomAD v4
11g.2588736G=CA1948235465KCNQ1c.918G= (p.Leu306=)
c.735G= (p.Leu245=)
c.1275G= (p.Leu425=)
c.894G= (p.Leu298=)
c.381G= (p.Leu127=)
11g.2588736G>TCA472039731KCNQ1c.918G>T (p.Leu306=)
c.735G>T (p.Leu245=)
c.1275G>T (p.Leu425=)
c.894G>T (p.Leu298=)
c.381G>T (p.Leu127=)
11g.2588737G>ACA379134950KCNQ1c.919G>A (p.Asp307Asn)
c.736G>A (p.Asp246Asn)
c.1276G>A (p.Asp426Asn)
c.895G>A (p.Asp299Asn)
c.382G>A (p.Asp128Asn)
11g.2588737G>CCA379134949KCNQ1c.919G>C (p.Asp307His)
c.736G>C (p.Asp246His)
c.1276G>C (p.Asp426His)
c.895G>C (p.Asp299His)
c.382G>C (p.Asp128His)
 ClinVar dbSNP
11g.2588737G=CA1948235468KCNQ1c.919G= (p.Asp307=)
c.736G= (p.Asp246=)
c.1276G= (p.Asp426=)
c.895G= (p.Asp299=)
c.382G= (p.Asp128=)
11g.2588737G>TCA379134948KCNQ1c.919G>T (p.Asp307Tyr)
c.736G>T (p.Asp246Tyr)
c.1276G>T (p.Asp426Tyr)
c.895G>T (p.Asp299Tyr)
c.382G>T (p.Asp128Tyr)
11g.2588738A>CCA379134951KCNQ1c.920A>C (p.Asp307Ala)
c.737A>C (p.Asp246Ala)
c.1277A>C (p.Asp426Ala)
c.896A>C (p.Asp299Ala)
c.383A>C (p.Asp128Ala)
11g.2588738A>GCA379134952KCNQ1c.920A>G (p.Asp307Gly)
c.737A>G (p.Asp246Gly)
c.1277A>G (p.Asp426Gly)
c.896A>G (p.Asp299Gly)
c.383A>G (p.Asp128Gly)
11g.2588738A>TCA379134953KCNQ1c.920A>T (p.Asp307Val)
c.737A>T (p.Asp246Val)
c.1277A>T (p.Asp426Val)
c.896A>T (p.Asp299Val)
c.383A>T (p.Asp128Val)
11g.2588738_2588739delinsACCA1948235475KCNQ1c.920_921delinsAC (p.Asp307=)
c.737_738delinsAC (p.Asp246=)
c.1277_1278delinsAC (p.Asp426=)
c.896_897delinsAC (p.Asp299=)
c.383_384delinsAC (p.Asp128=)
11g.2588739delCA1139661780KCNQ1c.921del (p.Asp307GlufsTer6)
c.738del (p.Asp246GlufsTer6)
c.1278del (p.Asp426GlufsTer6)
c.897del (p.Asp299GlufsTer6)
c.384del (p.Asp128GlufsTer6)
 ClinVar dbSNP
11g.2588739C>ACA379134954KCNQ1c.921C>A (p.Asp307Glu)
c.738C>A (p.Asp246Glu)
c.1278C>A (p.Asp426Glu)
c.897C>A (p.Asp299Glu)
c.384C>A (p.Asp128Glu)
11g.2588739C=CA1948235482KCNQ1c.921C= (p.Asp307=)
c.738C= (p.Asp246=)
c.1278C= (p.Asp426=)
c.897C= (p.Asp299=)
c.384C= (p.Asp128=)
11g.2588739C>GCA379134955KCNQ1c.921C>G (p.Asp307Glu)
c.738C>G (p.Asp246Glu)
c.1278C>G (p.Asp426Glu)
c.897C>G (p.Asp299Glu)
c.384C>G (p.Asp128Glu)
 COSMIC COSMIC
11g.2588739C>TCA472039736KCNQ1c.921C>T (p.Asp307=)
c.738C>T (p.Asp246=)
c.1278C>T (p.Asp426=)
c.897C>T (p.Asp299=)
c.384C>T (p.Asp128=)
 dbSNP
11g.2588740A>CCA379134956KCNQ1c.922A>C (p.Lys308Gln)
c.739A>C (p.Lys247Gln)
c.1279A>C (p.Lys427Gln)
c.898A>C (p.Lys300Gln)
c.385A>C (p.Lys129Gln)
11g.2588740A>GCA379134957KCNQ1c.922A>G (p.Lys308Glu)
c.739A>G (p.Lys247Glu)
c.1279A>G (p.Lys427Glu)
c.898A>G (p.Lys300Glu)
c.385A>G (p.Lys129Glu)
11g.2588740A>TCA379134958KCNQ1c.922A>T (p.Lys308Ter)
c.739A>T (p.Lys247Ter)
c.1279A>T (p.Lys427Ter)
c.898A>T (p.Lys300Ter)
c.385A>T (p.Lys129Ter)
11g.2588742dupCA2580082630KCNQ1c.924dup (p.Asp309ArgfsTer?)
c.741dup (p.Asp248ArgfsTer?)
c.1281dup (p.Asp428ArgfsTer?)
c.900dup (p.Asp301ArgfsTer?)
c.387dup (p.Asp130ArgfsTer?)
 ClinVar
11g.2588741A>CCA379134959KCNQ1c.923A>C (p.Lys308Thr)
c.740A>C (p.Lys247Thr)
c.1280A>C (p.Lys427Thr)
c.899A>C (p.Lys300Thr)
c.386A>C (p.Lys129Thr)
11g.2588741A>GCA379134960KCNQ1c.923A>G (p.Lys308Arg)
c.740A>G (p.Lys247Arg)
c.1280A>G (p.Lys427Arg)
c.899A>G (p.Lys300Arg)
c.386A>G (p.Lys129Arg)
11g.2588741A>TCA379134961KCNQ1c.923A>T (p.Lys308Ile)
c.740A>T (p.Lys247Ile)
c.1280A>T (p.Lys427Ile)
c.899A>T (p.Lys300Ile)
c.386A>T (p.Lys129Ile)
11g.2588742A=CA1948235488KCNQ1c.924A= (p.Lys308=)
c.741A= (p.Lys247=)
c.1281A= (p.Lys427=)
c.900A= (p.Lys300=)
c.387A= (p.Lys129=)
11g.2588742A>CCA379134963KCNQ1c.924A>C (p.Lys308Asn)
c.741A>C (p.Lys247Asn)
c.1281A>C (p.Lys427Asn)
c.900A>C (p.Lys300Asn)
c.387A>C (p.Lys129Asn)
11g.2588742A>GCA028450KCNQ1c.924A>G (p.Lys308=)
c.741A>G (p.Lys247=)
c.1281A>G (p.Lys427=)
c.900A>G (p.Lys300=)
c.387A>G (p.Lys129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588742A>TCA379134962KCNQ1c.924A>T (p.Lys308Asn)
c.741A>T (p.Lys247Asn)
c.1281A>T (p.Lys427Asn)
c.900A>T (p.Lys300Asn)
c.387A>T (p.Lys129Asn)
11g.2588743G>ACA379134964KCNQ1c.925G>A (p.Asp309Asn)
c.742G>A (p.Asp248Asn)
c.1282G>A (p.Asp428Asn)
c.901G>A (p.Asp301Asn)
c.388G>A (p.Asp130Asn)
 ClinVar
11g.2588743G>CCA379134965KCNQ1c.925G>C (p.Asp309His)
c.742G>C (p.Asp248His)
c.1282G>C (p.Asp428His)
c.901G>C (p.Asp301His)
c.388G>C (p.Asp130His)
11g.2588743G>TCA379134966KCNQ1c.925G>T (p.Asp309Tyr)
c.742G>T (p.Asp248Tyr)
c.1282G>T (p.Asp428Tyr)
c.901G>T (p.Asp301Tyr)
c.388G>T (p.Asp130Tyr)
 ClinVar
11g.2588744A=CA1948235502KCNQ1c.926A= (p.Asp309=)
c.743A= (p.Asp248=)
c.1283A= (p.Asp428=)
c.902A= (p.Asp301=)
c.389A= (p.Asp130=)
11g.2588744A>CCA379134967KCNQ1c.926A>C (p.Asp309Ala)
c.743A>C (p.Asp248Ala)
c.1283A>C (p.Asp428Ala)
c.902A>C (p.Asp301Ala)
c.389A>C (p.Asp130Ala)
11g.2588744A>GCA005564KCNQ1c.926A>G (p.Asp309Gly)
c.743A>G (p.Asp248Gly)
c.1283A>G (p.Asp428Gly)
c.902A>G (p.Asp301Gly)
c.389A>G (p.Asp130Gly)
 ClinVar dbSNP gnomAD v4
11g.2588744A>TCA379134968KCNQ1c.926A>T (p.Asp309Val)
c.743A>T (p.Asp248Val)
c.1283A>T (p.Asp428Val)
c.902A>T (p.Asp301Val)
c.389A>T (p.Asp130Val)
11g.2588745C>ACA379134969KCNQ1c.927C>A (p.Asp309Glu)
c.744C>A (p.Asp248Glu)
c.1284C>A (p.Asp428Glu)
c.903C>A (p.Asp301Glu)
c.390C>A (p.Asp130Glu)
11g.2588745C=CA1948235509KCNQ1c.927C= (p.Asp309=)
c.744C= (p.Asp248=)
c.1284C= (p.Asp428=)
c.903C= (p.Asp301=)
c.390C= (p.Asp130=)
11g.2588745C>GCA379134970KCNQ1c.927C>G (p.Asp309Glu)
c.744C>G (p.Asp248Glu)
c.1284C>G (p.Asp428Glu)
c.903C>G (p.Asp301Glu)
c.390C>G (p.Asp130Glu)
11g.2588745C>TCA472039748KCNQ1c.927C>T (p.Asp309=)
c.744C>T (p.Asp248=)
c.1284C>T (p.Asp428=)
c.903C>T (p.Asp301=)
c.390C>T (p.Asp130=)
 ClinVar dbSNP
11g.2588746A=CA1948235516KCNQ1c.928A= (p.Asn310=)
c.745A= (p.Asn249=)
c.1285A= (p.Asn429=)
c.904A= (p.Asn302=)
c.391A= (p.Asn131=)
11g.2588746A>CCA379134971KCNQ1c.928A>C (p.Asn310His)
c.745A>C (p.Asn249His)
c.1285A>C (p.Asn429His)
c.904A>C (p.Asn302His)
c.391A>C (p.Asn131His)
 gnomAD v4
11g.2588746A>GCA216334663KCNQ1c.928A>G (p.Asn310Asp)
c.745A>G (p.Asn249Asp)
c.1285A>G (p.Asn429Asp)
c.904A>G (p.Asn302Asp)
c.391A>G (p.Asn131Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2588746A>TCA379134972KCNQ1c.928A>T (p.Asn310Tyr)
c.745A>T (p.Asn249Tyr)
c.1285A>T (p.Asn429Tyr)
c.904A>T (p.Asn302Tyr)
c.391A>T (p.Asn131Tyr)
11g.2588747A=CA1948235526KCNQ1c.929A= (p.Asn310=)
c.746A= (p.Asn249=)
c.1286A= (p.Asn429=)
c.905A= (p.Asn302=)
c.392A= (p.Asn131=)
11g.2588747A>CCA379134974KCNQ1c.929A>C (p.Asn310Thr)
c.746A>C (p.Asn249Thr)
c.1286A>C (p.Asn429Thr)
c.905A>C (p.Asn302Thr)
c.392A>C (p.Asn131Thr)
11g.2588747A>GCA379134975KCNQ1c.929A>G (p.Asn310Ser)
c.746A>G (p.Asn249Ser)
c.1286A>G (p.Asn429Ser)
c.905A>G (p.Asn302Ser)
c.392A>G (p.Asn131Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588747A>TCA379134973KCNQ1c.929A>T (p.Asn310Ile)
c.746A>T (p.Asn249Ile)
c.1286A>T (p.Asn429Ile)
c.905A>T (p.Asn302Ile)
c.392A>T (p.Asn131Ile)
11g.2588747_2588759delinsATGGGGTGACTCCCA1948235529KCNQ1c.929_941delinsATGGGGTGACTCC (p.Asn310=)
c.746_758delinsATGGGGTGACTCC (p.Asn249=)
c.1286_1298delinsATGGGGTGACTCC (p.Asn429=)
c.905_917delinsATGGGGTGACTCC (p.Asn302=)
c.392_404delinsATGGGGTGACTCC (p.Asn131=)
11g.2588748T>ACA379134977KCNQ1c.930T>A (p.Asn310Lys)
c.747T>A (p.Asn249Lys)
c.1287T>A (p.Asn429Lys)
c.906T>A (p.Asn302Lys)
c.393T>A (p.Asn131Lys)
11g.2588748T>CCA472039754KCNQ1c.930T>C (p.Asn310=)
c.747T>C (p.Asn249=)
c.1287T>C (p.Asn429=)
c.906T>C (p.Asn302=)
c.393T>C (p.Asn131=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2588748T>GCA379134976KCNQ1c.930T>G (p.Asn310Lys)
c.747T>G (p.Asn249Lys)
c.1287T>G (p.Asn429Lys)
c.906T>G (p.Asn302Lys)
c.393T>G (p.Asn131Lys)
11g.2588748T=CA1948235539KCNQ1c.930T= (p.Asn310=)
c.747T= (p.Asn249=)
c.1287T= (p.Asn429=)
c.906T= (p.Asn302=)
c.393T= (p.Asn131=)
11g.2588751_2588762delCA216334676KCNQ1c.933_944del (p.Val312_Gly315del)
c.750_761del (p.Val251_Gly254del)
c.1290_1301del (p.Val431_Gly434del)
c.909_920del (p.Val304_Gly307del)
c.396_407del (p.Val133_Gly136del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2588749G>ACA216334680KCNQ1c.931G>A (p.Gly311Arg)
c.748G>A (p.Gly250Arg)
c.1288G>A (p.Gly430Arg)
c.907G>A (p.Gly303Arg)
c.394G>A (p.Gly132Arg)
 dbSNP gnomAD v4
11g.2588749G>CCA379134978KCNQ1c.931G>C (p.Gly311Arg)
c.748G>C (p.Gly250Arg)
c.1288G>C (p.Gly430Arg)
c.907G>C (p.Gly303Arg)
c.394G>C (p.Gly132Arg)
11g.2588749G=CA1948235551KCNQ1c.931G= (p.Gly311=)
c.748G= (p.Gly250=)
c.1288G= (p.Gly430=)
c.907G= (p.Gly303=)
c.394G= (p.Gly132=)
11g.2588749G>TCA379134979KCNQ1c.931G>T (p.Gly311Trp)
c.748G>T (p.Gly250Trp)
c.1288G>T (p.Gly430Trp)
c.907G>T (p.Gly303Trp)
c.394G>T (p.Gly132Trp)
11g.2588752dupCA005571KCNQ1c.934dup (p.Val312GlyfsTer?)
c.751dup (p.Val251GlyfsTer?)
c.1291dup (p.Val431GlyfsTer?)
c.910dup (p.Val304GlyfsTer?)
c.397dup (p.Val133GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588750G>ACA379134980KCNQ1c.932G>A (p.Gly311Glu)
c.749G>A (p.Gly250Glu)
c.1289G>A (p.Gly430Glu)
c.908G>A (p.Gly303Glu)
c.395G>A (p.Gly132Glu)
11g.2588750G>CCA379134981KCNQ1c.932G>C (p.Gly311Ala)
c.749G>C (p.Gly250Ala)
c.1289G>C (p.Gly430Ala)
c.908G>C (p.Gly303Ala)
c.395G>C (p.Gly132Ala)
11g.2588750G>TCA379134982KCNQ1c.932G>T (p.Gly311Val)
c.749G>T (p.Gly250Val)
c.1289G>T (p.Gly430Val)
c.908G>T (p.Gly303Val)
c.395G>T (p.Gly132Val)
11g.2588751G>ACA472039762KCNQ1c.933G>A (p.Gly311=)
c.750G>A (p.Gly250=)
c.1290G>A (p.Gly430=)
c.909G>A (p.Gly303=)
c.396G>A (p.Gly132=)
 ClinVar dbSNP gnomAD v4
11g.2588751G>CCA472039764KCNQ1c.933G>C (p.Gly311=)
c.750G>C (p.Gly250=)
c.1290G>C (p.Gly430=)
c.909G>C (p.Gly303=)
c.396G>C (p.Gly132=)
11g.2588751G=CA1948235559KCNQ1c.933G= (p.Gly311=)
c.750G= (p.Gly250=)
c.1290G= (p.Gly430=)
c.909G= (p.Gly303=)
c.396G= (p.Gly132=)
11g.2588751G>TCA472039765KCNQ1c.933G>T (p.Gly311=)
c.750G>T (p.Gly250=)
c.1290G>T (p.Gly430=)
c.909G>T (p.Gly303=)
c.396G>T (p.Gly132=)
 dbSNP gnomAD v3 gnomAD v4
11g.2588752G>ACA379134983KCNQ1c.934G>A (p.Val312Met)
c.751G>A (p.Val251Met)
c.1291G>A (p.Val431Met)
c.910G>A (p.Val304Met)
c.397G>A (p.Val133Met)
 dbSNP gnomAD v3 gnomAD v4
11g.2588752G>CCA379134984KCNQ1c.934G>C (p.Val312Leu)
c.751G>C (p.Val251Leu)
c.1291G>C (p.Val431Leu)
c.910G>C (p.Val304Leu)
c.397G>C (p.Val133Leu)
11g.2588752G=CA1948235575KCNQ1c.934G= (p.Val312=)
c.751G= (p.Val251=)
c.1291G= (p.Val431=)
c.910G= (p.Val304=)
c.397G= (p.Val133=)
11g.2588752G>TCA028478KCNQ1c.934G>T (p.Val312Leu)
c.751G>T (p.Val251Leu)
c.1291G>T (p.Val431Leu)
c.910G>T (p.Val304Leu)
c.397G>T (p.Val133Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.2588753T>ACA379134987KCNQ1c.935T>A (p.Val312Glu)
c.752T>A (p.Val251Glu)
c.1292T>A (p.Val431Glu)
c.911T>A (p.Val304Glu)
c.398T>A (p.Val133Glu)
11g.2588753T>CCA379134986KCNQ1c.935T>C (p.Val312Ala)
c.752T>C (p.Val251Ala)
c.1292T>C (p.Val431Ala)
c.911T>C (p.Val304Ala)
c.398T>C (p.Val133Ala)
11g.2588753T>GCA379134985KCNQ1c.935T>G (p.Val312Gly)
c.752T>G (p.Val251Gly)
c.1292T>G (p.Val431Gly)
c.911T>G (p.Val304Gly)
c.398T>G (p.Val133Gly)
11g.2588753T=CA1948235580KCNQ1c.935T= (p.Val312=)
c.752T= (p.Val251=)
c.1292T= (p.Val431=)
c.911T= (p.Val304=)
c.398T= (p.Val133=)
11g.2588754G>ACA472039770KCNQ1c.936G>A (p.Val312=)
c.753G>A (p.Val251=)
c.1293G>A (p.Val431=)
c.912G>A (p.Val304=)
c.399G>A (p.Val133=)
 gnomAD v4
11g.2588754G>CCA472039772KCNQ1c.936G>C (p.Val312=)
c.753G>C (p.Val251=)
c.1293G>C (p.Val431=)
c.912G>C (p.Val304=)
c.399G>C (p.Val133=)
11g.2588754G>TCA472039774KCNQ1c.936G>T (p.Val312=)
c.753G>T (p.Val251=)
c.1293G>T (p.Val431=)
c.912G>T (p.Val304=)
c.399G>T (p.Val133=)
 gnomAD v4
11g.2588754dupCA005580KCNQ1c.936dup (p.Thr313AspfsTer?)
c.753dup (p.Thr252AspfsTer?)
c.1293dup (p.Thr432AspfsTer?)
c.912dup (p.Thr305AspfsTer?)
c.399dup (p.Thr134AspfsTer?)
 ClinVar dbSNP
11g.2588755A=CA1948235593KCNQ1c.937A= (p.Thr313=)
c.754A= (p.Thr252=)
c.1294A= (p.Thr432=)
c.913A= (p.Thr305=)
c.400A= (p.Thr134=)
11g.2588755A>CCA379134988KCNQ1c.937A>C (p.Thr313Pro)
c.754A>C (p.Thr252Pro)
c.1294A>C (p.Thr432Pro)
c.913A>C (p.Thr305Pro)
c.400A>C (p.Thr134Pro)
11g.2588755A>GCA379134989KCNQ1c.937A>G (p.Thr313Ala)
c.754A>G (p.Thr252Ala)
c.1294A>G (p.Thr432Ala)
c.913A>G (p.Thr305Ala)
c.400A>G (p.Thr134Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.2588755A>TCA379134990KCNQ1c.937A>T (p.Thr313Ser)
c.754A>T (p.Thr252Ser)
c.1294A>T (p.Thr432Ser)
c.913A>T (p.Thr305Ser)
c.400A>T (p.Thr134Ser)
11g.2588756C>ACA379134991KCNQ1c.938C>A (p.Thr313Asn)
c.755C>A (p.Thr252Asn)
c.1295C>A (p.Thr432Asn)
c.914C>A (p.Thr305Asn)
c.401C>A (p.Thr134Asn)
11g.2588756C=CA1948235599KCNQ1c.938C= (p.Thr313=)
c.755C= (p.Thr252=)
c.1295C= (p.Thr432=)
c.914C= (p.Thr305=)
c.401C= (p.Thr134=)
11g.2588756C>GCA379134992KCNQ1c.938C>G (p.Thr313Ser)
c.755C>G (p.Thr252Ser)
c.1295C>G (p.Thr432Ser)
c.914C>G (p.Thr305Ser)
c.401C>G (p.Thr134Ser)
11g.2588756C>TCA028497KCNQ1c.938C>T (p.Thr313Ile)
c.755C>T (p.Thr252Ile)
c.1295C>T (p.Thr432Ile)
c.914C>T (p.Thr305Ile)
c.401C>T (p.Thr134Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588757T>ACA472039779KCNQ1c.939T>A (p.Thr313=)
c.756T>A (p.Thr252=)
c.1296T>A (p.Thr432=)
c.915T>A (p.Thr305=)
c.402T>A (p.Thr134=)
11g.2588757T>CCA472039782KCNQ1c.939T>C (p.Thr313=)
c.756T>C (p.Thr252=)
c.1296T>C (p.Thr432=)
c.915T>C (p.Thr305=)
c.402T>C (p.Thr134=)
11g.2588757T>GCA472039781KCNQ1c.939T>G (p.Thr313=)
c.756T>G (p.Thr252=)
c.1296T>G (p.Thr432=)
c.915T>G (p.Thr305=)
c.402T>G (p.Thr134=)
11g.2588758C>ACA379134993KCNQ1c.940C>A (p.Pro314Thr)
c.757C>A (p.Pro253Thr)
c.1297C>A (p.Pro433Thr)
c.916C>A (p.Pro306Thr)
c.403C>A (p.Pro135Thr)
 COSMIC COSMIC
11g.2588758C=CA1948235602KCNQ1c.940C= (p.Pro314=)
c.757C= (p.Pro253=)
c.1297C= (p.Pro433=)
c.916C= (p.Pro306=)
c.403C= (p.Pro135=)
11g.2588758C>GCA379134994KCNQ1c.940C>G (p.Pro314Ala)
c.757C>G (p.Pro253Ala)
c.1297C>G (p.Pro433Ala)
c.916C>G (p.Pro306Ala)
c.403C>G (p.Pro135Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.2588758C>TCA379134995KCNQ1c.940C>T (p.Pro314Ser)
c.757C>T (p.Pro253Ser)
c.1297C>T (p.Pro433Ser)
c.916C>T (p.Pro306Ser)
c.403C>T (p.Pro135Ser)
11g.2588759C>ACA379134996KCNQ1c.941C>A (p.Pro314His)
c.758C>A (p.Pro253His)
c.1298C>A (p.Pro433His)
c.917C>A (p.Pro306His)
c.404C>A (p.Pro135His)
11g.2588759C=CA1948235604KCNQ1c.941C= (p.Pro314=)
c.758C= (p.Pro253=)
c.1298C= (p.Pro433=)
c.917C= (p.Pro306=)
c.404C= (p.Pro135=)
11g.2588759C>GCA379134997KCNQ1c.941C>G (p.Pro314Arg)
c.758C>G (p.Pro253Arg)
c.1298C>G (p.Pro433Arg)
c.917C>G (p.Pro306Arg)
c.404C>G (p.Pro135Arg)
11g.2588759C>TCA379134998KCNQ1c.941C>T (p.Pro314Leu)
c.758C>T (p.Pro253Leu)
c.1298C>T (p.Pro433Leu)
c.917C>T (p.Pro306Leu)
c.404C>T (p.Pro135Leu)
 dbSNP
11g.2588760T>ACA472039789KCNQ1c.942T>A (p.Pro314=)
c.759T>A (p.Pro253=)
c.1299T>A (p.Pro433=)
c.918T>A (p.Pro306=)
c.405T>A (p.Pro135=)
11g.2588760T>CCA472039786KCNQ1c.942T>C (p.Pro314=)
c.759T>C (p.Pro253=)
c.1299T>C (p.Pro433=)
c.918T>C (p.Pro306=)
c.405T>C (p.Pro135=)
 gnomAD v4
11g.2588760T>GCA472039787KCNQ1c.942T>G (p.Pro314=)
c.759T>G (p.Pro253=)
c.1299T>G (p.Pro433=)
c.918T>G (p.Pro306=)
c.405T>G (p.Pro135=)
11g.2588761G>ACA028520KCNQ1c.943G>A (p.Gly315Arg)
c.760G>A (p.Gly254Arg)
c.1300G>A (p.Gly434Arg)
c.919G>A (p.Gly307Arg)
c.406G>A (p.Gly136Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588761G>CCA379135000KCNQ1c.943G>C (p.Gly315Arg)
c.760G>C (p.Gly254Arg)
c.1300G>C (p.Gly434Arg)
c.919G>C (p.Gly307Arg)
c.406G>C (p.Gly136Arg)
11g.2588761G=CA1948235607KCNQ1c.943G= (p.Gly315=)
c.760G= (p.Gly254=)
c.1300G= (p.Gly434=)
c.919G= (p.Gly307=)
c.406G= (p.Gly136=)
11g.2588761G>TCA379134999KCNQ1c.943G>T (p.Gly315Ter)
c.760G>T (p.Gly254Ter)
c.1300G>T (p.Gly434Ter)
c.919G>T (p.Gly307Ter)
c.406G>T (p.Gly136Ter)
11g.2588762G>ACA379135001KCNQ1c.944G>A (p.Gly315Glu)
c.761G>A (p.Gly254Glu)
c.1301G>A (p.Gly434Glu)
c.920G>A (p.Gly307Glu)
c.407G>A (p.Gly136Glu)
 ClinVar gnomAD v4
11g.2588762G>CCA379135002KCNQ1c.944G>C (p.Gly315Ala)
c.761G>C (p.Gly254Ala)
c.1301G>C (p.Gly434Ala)
c.920G>C (p.Gly307Ala)
c.407G>C (p.Gly136Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2588762G=CA1948235610KCNQ1c.944G= (p.Gly315=)
c.761G= (p.Gly254=)
c.1301G= (p.Gly434=)
c.920G= (p.Gly307=)
c.407G= (p.Gly136=)
11g.2588762G>TCA379135003KCNQ1c.944G>T (p.Gly315Val)
c.761G>T (p.Gly254Val)
c.1301G>T (p.Gly434Val)
c.920G>T (p.Gly307Val)
c.407G>T (p.Gly136Val)
11g.2588763A>CCA472039794KCNQ1c.945A>C (p.Gly315=)
c.762A>C (p.Gly254=)
c.1302A>C (p.Gly434=)
c.921A>C (p.Gly307=)
c.408A>C (p.Gly136=)
11g.2588763A>GCA472039796KCNQ1c.945A>G (p.Gly315=)
c.762A>G (p.Gly254=)
c.1302A>G (p.Gly434=)
c.921A>G (p.Gly307=)
c.408A>G (p.Gly136=)
11g.2588763A>TCA472039797KCNQ1c.945A>T (p.Gly315=)
c.762A>T (p.Gly254=)
c.1302A>T (p.Gly434=)
c.921A>T (p.Gly307=)
c.408A>T (p.Gly136=)
11g.2588764G>ACA379135004KCNQ1c.946G>A (p.Glu316Lys)
c.763G>A (p.Glu255Lys)
c.1303G>A (p.Glu435Lys)
c.922G>A (p.Glu308Lys)
c.409G>A (p.Glu137Lys)
 ClinVar dbSNP gnomAD v4
11g.2588764G>CCA379135005KCNQ1c.946G>C (p.Glu316Gln)
c.763G>C (p.Glu255Gln)
c.1303G>C (p.Glu435Gln)
c.922G>C (p.Glu308Gln)
c.409G>C (p.Glu137Gln)
11g.2588764G=CA1948235616KCNQ1c.946G= (p.Glu316=)
c.763G= (p.Glu255=)
c.1303G= (p.Glu435=)
c.922G= (p.Glu308=)
c.409G= (p.Glu137=)
11g.2588764G>TCA379135006KCNQ1c.946G>T (p.Glu316Ter)
c.763G>T (p.Glu255Ter)
c.1303G>T (p.Glu435Ter)
c.922G>T (p.Glu308Ter)
c.409G>T (p.Glu137Ter)
11g.2588765A=CA1948235623KCNQ1c.947A= (p.Glu316=)
c.764A= (p.Glu255=)
c.1304A= (p.Glu435=)
c.923A= (p.Glu308=)
c.410A= (p.Glu137=)
11g.2588765A>CCA379135009KCNQ1c.947A>C (p.Glu316Ala)
c.764A>C (p.Glu255Ala)
c.1304A>C (p.Glu435Ala)
c.923A>C (p.Glu308Ala)
c.410A>C (p.Glu137Ala)
11g.2588765A>GCA379135007KCNQ1c.947A>G (p.Glu316Gly)
c.764A>G (p.Glu255Gly)
c.1304A>G (p.Glu435Gly)
c.923A>G (p.Glu308Gly)
c.410A>G (p.Glu137Gly)
 dbSNP
11g.2588765A>TCA379135008KCNQ1c.947A>T (p.Glu316Val)
c.764A>T (p.Glu255Val)
c.1304A>T (p.Glu435Val)
c.923A>T (p.Glu308Val)
c.410A>T (p.Glu137Val)
11g.2588768_2588770delCA2612004404KCNQ1c.950_952del (p.Lys317del)
c.767_769del (p.Lys256del)
c.1307_1309del (p.Lys436del)
c.926_928del (p.Lys309del)
c.413_415del (p.Lys138del)
 gnomAD v4
11g.2588766G>ACA472039803KCNQ1c.948G>A (p.Glu316=)
c.765G>A (p.Glu255=)
c.1305G>A (p.Glu435=)
c.924G>A (p.Glu308=)
c.411G>A (p.Glu137=)
11g.2588766G>CCA379135010KCNQ1c.948G>C (p.Glu316Asp)
c.765G>C (p.Glu255Asp)
c.1305G>C (p.Glu435Asp)
c.924G>C (p.Glu308Asp)
c.411G>C (p.Glu137Asp)
11g.2588766G>TCA379135011KCNQ1c.948G>T (p.Glu316Asp)
c.765G>T (p.Glu255Asp)
c.1305G>T (p.Glu435Asp)
c.924G>T (p.Glu308Asp)
c.411G>T (p.Glu137Asp)
11g.2588767A>CCA379135012KCNQ1c.949A>C (p.Lys317Gln)
c.766A>C (p.Lys256Gln)
c.1306A>C (p.Lys436Gln)
c.925A>C (p.Lys309Gln)
c.412A>C (p.Lys138Gln)
 gnomAD v4
11g.2588767A>GCA379135013KCNQ1c.949A>G (p.Lys317Glu)
c.766A>G (p.Lys256Glu)
c.1306A>G (p.Lys436Glu)
c.925A>G (p.Lys309Glu)
c.412A>G (p.Lys138Glu)
 gnomAD v4
11g.2588767A>TCA379135014KCNQ1c.949A>T (p.Lys317Ter)
c.766A>T (p.Lys256Ter)
c.1306A>T (p.Lys436Ter)
c.925A>T (p.Lys309Ter)
c.412A>T (p.Lys138Ter)
11g.2588768A>CCA379135015KCNQ1c.950A>C (p.Lys317Thr)
c.767A>C (p.Lys256Thr)
c.1307A>C (p.Lys436Thr)
c.926A>C (p.Lys309Thr)
c.413A>C (p.Lys138Thr)
11g.2588768A>GCA379135017KCNQ1c.950A>G (p.Lys317Arg)
c.767A>G (p.Lys256Arg)
c.1307A>G (p.Lys436Arg)
c.926A>G (p.Lys309Arg)
c.413A>G (p.Lys138Arg)
11g.2588768A>TCA379135016KCNQ1c.950A>T (p.Lys317Met)
c.767A>T (p.Lys256Met)
c.1307A>T (p.Lys436Met)
c.926A>T (p.Lys309Met)
c.413A>T (p.Lys138Met)
11g.2588769G>ACA472039808KCNQ1c.951G>A (p.Lys317=)
c.768G>A (p.Lys256=)
c.1308G>A (p.Lys436=)
c.927G>A (p.Lys309=)
c.414G>A (p.Lys138=)
 gnomAD v4
11g.2588769G>CCA379135018KCNQ1c.951G>C (p.Lys317Asn)
c.768G>C (p.Lys256Asn)
c.1308G>C (p.Lys436Asn)
c.927G>C (p.Lys309Asn)
c.414G>C (p.Lys138Asn)
 COSMIC COSMIC
11g.2588769G>TCA379135019KCNQ1c.951G>T (p.Lys317Asn)
c.768G>T (p.Lys256Asn)
c.1308G>T (p.Lys436Asn)
c.927G>T (p.Lys309Asn)
c.414G>T (p.Lys138Asn)
11g.2588770A>CCA379135020KCNQ1c.952A>C (p.Met318Leu)
c.769A>C (p.Met257Leu)
c.1309A>C (p.Met437Leu)
c.928A>C (p.Met310Leu)
c.415A>C (p.Met139Leu)
11g.2588770A>GCA379135021KCNQ1c.952A>G (p.Met318Val)
c.769A>G (p.Met257Val)
c.1309A>G (p.Met437Val)
c.928A>G (p.Met310Val)
c.415A>G (p.Met139Val)
11g.2588770A>TCA379135022KCNQ1c.952A>T (p.Met318Leu)
c.769A>T (p.Met257Leu)
c.1309A>T (p.Met437Leu)
c.928A>T (p.Met310Leu)
c.415A>T (p.Met139Leu)
11g.2588771T>ACA379135023KCNQ1c.953T>A (p.Met318Lys)
c.770T>A (p.Met257Lys)
c.1310T>A (p.Met437Lys)
c.929T>A (p.Met310Lys)
c.416T>A (p.Met139Lys)
 COSMIC
11g.2588771T>CCA379135024KCNQ1c.953T>C (p.Met318Thr)
c.770T>C (p.Met257Thr)
c.1310T>C (p.Met437Thr)
c.929T>C (p.Met310Thr)
c.416T>C (p.Met139Thr)
11g.2588771T>GCA379135025KCNQ1c.953T>G (p.Met318Arg)
c.770T>G (p.Met257Arg)
c.1310T>G (p.Met437Arg)
c.929T>G (p.Met310Arg)
c.416T>G (p.Met139Arg)
 ClinVar
11g.2588772G>ACA379135026KCNQ1c.954G>A (p.Met318Ile)
c.771G>A (p.Met257Ile)
c.1311G>A (p.Met437Ile)
c.930G>A (p.Met310Ile)
c.417G>A (p.Met139Ile)
11g.2588772G>CCA379135027KCNQ1c.954G>C (p.Met318Ile)
c.771G>C (p.Met257Ile)
c.1311G>C (p.Met437Ile)
c.930G>C (p.Met310Ile)
c.417G>C (p.Met139Ile)
11g.2588772G>TCA379135028KCNQ1c.954G>T (p.Met318Ile)
c.771G>T (p.Met257Ile)
c.1311G>T (p.Met437Ile)
c.930G>T (p.Met310Ile)
c.417G>T (p.Met139Ile)
11g.2588773C>ACA379135030KCNQ1c.955C>A (p.Leu319Ile)
c.772C>A (p.Leu258Ile)
c.1312C>A (p.Leu438Ile)
c.931C>A (p.Leu311Ile)
c.418C>A (p.Leu140Ile)
11g.2588773C>GCA379135031KCNQ1c.955C>G (p.Leu319Val)
c.772C>G (p.Leu258Val)
c.1312C>G (p.Leu438Val)
c.931C>G (p.Leu311Val)
c.418C>G (p.Leu140Val)
11g.2588773C>TCA379135029KCNQ1c.955C>T (p.Leu319Phe)
c.772C>T (p.Leu258Phe)
c.1312C>T (p.Leu438Phe)
c.931C>T (p.Leu311Phe)
c.418C>T (p.Leu140Phe)
11g.2588774T>ACA379135034KCNQ1c.956T>A (p.Leu319His)
c.773T>A (p.Leu258His)
c.1313T>A (p.Leu438His)
c.932T>A (p.Leu311His)
c.419T>A (p.Leu140His)
11g.2588774T>CCA379135032KCNQ1c.956T>C (p.Leu319Pro)
c.773T>C (p.Leu258Pro)
c.1313T>C (p.Leu438Pro)
c.932T>C (p.Leu311Pro)
c.419T>C (p.Leu140Pro)
11g.2588774T>GCA379135033KCNQ1c.956T>G (p.Leu319Arg)
c.773T>G (p.Leu258Arg)
c.1313T>G (p.Leu438Arg)
c.932T>G (p.Leu311Arg)
c.419T>G (p.Leu140Arg)
11g.2588775C>ACA472039818KCNQ1c.957C>A (p.Leu319=)
c.774C>A (p.Leu258=)
c.1314C>A (p.Leu438=)
c.933C>A (p.Leu311=)
c.420C>A (p.Leu140=)
 gnomAD v4
11g.2588775C=CA1948235629KCNQ1c.957C= (p.Leu319=)
c.774C= (p.Leu258=)
c.1314C= (p.Leu438=)
c.933C= (p.Leu311=)
c.420C= (p.Leu140=)
11g.2588775C>GCA472039819KCNQ1c.957C>G (p.Leu319=)
c.774C>G (p.Leu258=)
c.1314C>G (p.Leu438=)
c.933C>G (p.Leu311=)
c.420C>G (p.Leu140=)
11g.2588775C>TCA472039820KCNQ1c.957C>T (p.Leu319=)
c.774C>T (p.Leu258=)
c.1314C>T (p.Leu438=)
c.933C>T (p.Leu311=)
c.420C>T (p.Leu140=)
 ClinVar dbSNP gnomAD v4
11g.2588776A>CCA379135035KCNQ1c.958A>C (p.Thr320Pro)
c.775A>C (p.Thr259Pro)
c.1315A>C (p.Thr439Pro)
c.934A>C (p.Thr312Pro)
c.421A>C (p.Thr141Pro)
11g.2588776A>GCA379135036KCNQ1c.958A>G (p.Thr320Ala)
c.775A>G (p.Thr259Ala)
c.1315A>G (p.Thr439Ala)
c.934A>G (p.Thr312Ala)
c.421A>G (p.Thr141Ala)
11g.2588776A>TCA379135037KCNQ1c.958A>T (p.Thr320Ser)
c.775A>T (p.Thr259Ser)
c.1315A>T (p.Thr439Ser)
c.934A>T (p.Thr312Ser)
c.421A>T (p.Thr141Ser)
11g.2588777C>ACA379135038KCNQ1c.959C>A (p.Thr320Lys)
c.776C>A (p.Thr259Lys)
c.1316C>A (p.Thr439Lys)
c.935C>A (p.Thr312Lys)
c.422C>A (p.Thr141Lys)
11g.2588777C>GCA379135039KCNQ1c.959C>G (p.Thr320Arg)
c.776C>G (p.Thr259Arg)
c.1316C>G (p.Thr439Arg)
c.935C>G (p.Thr312Arg)
c.422C>G (p.Thr141Arg)
11g.2588777C>TCA379135040KCNQ1c.959C>T (p.Thr320Ile)
c.776C>T (p.Thr259Ile)
c.1316C>T (p.Thr439Ile)
c.935C>T (p.Thr312Ile)
c.422C>T (p.Thr141Ile)
11g.2588778A=CA1948235632KCNQ1c.960A= (p.Thr320=)
c.777A= (p.Thr259=)
c.1317A= (p.Thr439=)
c.936A= (p.Thr312=)
c.423A= (p.Thr141=)
11g.2588778A>CCA472039825KCNQ1c.960A>C (p.Thr320=)
c.777A>C (p.Thr259=)
c.1317A>C (p.Thr439=)
c.936A>C (p.Thr312=)
c.423A>C (p.Thr141=)
11g.2588778A>GCA472039827KCNQ1c.960A>G (p.Thr320=)
c.777A>G (p.Thr259=)
c.1317A>G (p.Thr439=)
c.936A>G (p.Thr312=)
c.423A>G (p.Thr141=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2588778A>TCA472039828KCNQ1c.960A>T (p.Thr320=)
c.777A>T (p.Thr259=)
c.1317A>T (p.Thr439=)
c.936A>T (p.Thr312=)
c.423A>T (p.Thr141=)
11g.2588779G>ACA379135041KCNQ1c.961G>A (p.Val321Ile)
c.778G>A (p.Val260Ile)
c.1318G>A (p.Val440Ile)
c.937G>A (p.Val313Ile)
c.424G>A (p.Val142Ile)
11g.2588779G>CCA379135043KCNQ1c.961G>C (p.Val321Leu)
c.778G>C (p.Val260Leu)
c.1318G>C (p.Val440Leu)
c.937G>C (p.Val313Leu)
c.424G>C (p.Val142Leu)
11g.2588779G>TCA379135042KCNQ1c.961G>T (p.Val321Phe)
c.778G>T (p.Val260Phe)
c.1318G>T (p.Val440Phe)
c.937G>T (p.Val313Phe)
c.424G>T (p.Val142Phe)
11g.2588780delCA2695212961KCNQ1c.962del (p.Val321AlafsTer26)
c.779del (p.Val260AlafsTer26)
c.1319del (p.Val440AlafsTer26)
c.938del (p.Val313AlafsTer26)
c.425del (p.Val142AlafsTer26)
11g.2588780T>ACA379135044KCNQ1c.962T>A (p.Val321Asp)
c.779T>A (p.Val260Asp)
c.1319T>A (p.Val440Asp)
c.938T>A (p.Val313Asp)
c.425T>A (p.Val142Asp)
11g.2588780T>CCA379135045KCNQ1c.962T>C (p.Val321Ala)
c.779T>C (p.Val260Ala)
c.1319T>C (p.Val440Ala)
c.938T>C (p.Val313Ala)
c.425T>C (p.Val142Ala)
11g.2588780T>GCA379135046KCNQ1c.962T>G (p.Val321Gly)
c.779T>G (p.Val260Gly)
c.1319T>G (p.Val440Gly)
c.938T>G (p.Val313Gly)
c.425T>G (p.Val142Gly)
11g.2588780_2588786delinsTCCCCCACA1948235635KCNQ1c.962_968delinsTCCCCCA (p.Val321=)
c.779_785delinsTCCCCCA (p.Val260=)
c.1319_1325delinsTCCCCCA (p.Val440=)
c.938_944delinsTCCCCCA (p.Val313=)
c.425_431delinsTCCCCCA (p.Val142=)
11g.2588780_2588798dupCA2580082632KCNQ1c.962_980dup (p.Glu330TyrfsTer20)
c.779_797dup (p.Glu269TyrfsTer20)
c.1319_1337dup (p.Glu449TyrfsTer20)
c.938_956dup (p.Glu322TyrfsTer20)
c.425_443dup (p.Glu151TyrfsTer20)
 ClinVar
11g.2588781C>ACA028547KCNQ1c.963C>A (p.Val321=)
c.780C>A (p.Val260=)
c.1320C>A (p.Val440=)
c.939C>A (p.Val313=)
c.426C>A (p.Val142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588781C=CA1948235647KCNQ1c.963C= (p.Val321=)
c.780C= (p.Val260=)
c.1320C= (p.Val440=)
c.939C= (p.Val313=)
c.426C= (p.Val142=)
11g.2588781C>GCA472039838KCNQ1c.963C>G (p.Val321=)
c.780C>G (p.Val260=)
c.1320C>G (p.Val440=)
c.939C>G (p.Val313=)
c.426C>G (p.Val142=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588781C>TCA472039837KCNQ1c.963C>T (p.Val321=)
c.780C>T (p.Val260=)
c.1320C>T (p.Val440=)
c.939C>T (p.Val313=)
c.426C>T (p.Val142=)
 ClinVar dbSNP gnomAD v4
11g.2588781_2588786delCA597432455KCNQ1c.963_968del (p.Pro322_His323del)
c.780_785del (p.Pro261_His262del)
c.1320_1325del (p.Pro441_His442del)
c.939_944del (p.Pro314_His315del)
c.426_431del (p.Pro143_His144del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588782C>ACA379135047KCNQ1c.964C>A (p.Pro322Thr)
c.781C>A (p.Pro261Thr)
c.1321C>A (p.Pro441Thr)
c.940C>A (p.Pro314Thr)
c.427C>A (p.Pro143Thr)
11g.2588782C=CA1948235665KCNQ1c.964C= (p.Pro322=)
c.781C= (p.Pro261=)
c.1321C= (p.Pro441=)
c.940C= (p.Pro314=)
c.427C= (p.Pro143=)
11g.2588782C>GCA379135048KCNQ1c.964C>G (p.Pro322Ala)
c.781C>G (p.Pro261Ala)
c.1321C>G (p.Pro441Ala)
c.940C>G (p.Pro314Ala)
c.427C>G (p.Pro143Ala)
11g.2588782C>TCA005593KCNQ1c.964C>T (p.Pro322Ser)
c.781C>T (p.Pro261Ser)
c.1321C>T (p.Pro441Ser)
c.940C>T (p.Pro314Ser)
c.427C>T (p.Pro143Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588783C>ACA379135049KCNQ1c.965C>A (p.Pro322His)
c.782C>A (p.Pro261His)
c.1322C>A (p.Pro441His)
c.941C>A (p.Pro314His)
c.428C>A (p.Pro143His)
11g.2588783C=CA1948235671KCNQ1c.965C= (p.Pro322=)
c.782C= (p.Pro261=)
c.1322C= (p.Pro441=)
c.941C= (p.Pro314=)
c.428C= (p.Pro143=)
11g.2588783C>GCA379135050KCNQ1c.965C>G (p.Pro322Arg)
c.782C>G (p.Pro261Arg)
c.1322C>G (p.Pro441Arg)
c.941C>G (p.Pro314Arg)
c.428C>G (p.Pro143Arg)
11g.2588783C>TCA379135051KCNQ1c.965C>T (p.Pro322Leu)
c.782C>T (p.Pro261Leu)
c.1322C>T (p.Pro441Leu)
c.941C>T (p.Pro314Leu)
c.428C>T (p.Pro143Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2588784C>ACA472039845KCNQ1c.966C>A (p.Pro322=)
c.783C>A (p.Pro261=)
c.1323C>A (p.Pro441=)
c.942C>A (p.Pro314=)
c.429C>A (p.Pro143=)
 ClinVar
11g.2588784C=CA1948235688KCNQ1c.966C= (p.Pro322=)
c.783C= (p.Pro261=)
c.1323C= (p.Pro441=)
c.942C= (p.Pro314=)
c.429C= (p.Pro143=)
11g.2588784C>GCA472039843KCNQ1c.966C>G (p.Pro322=)
c.783C>G (p.Pro261=)
c.1323C>G (p.Pro441=)
c.942C>G (p.Pro314=)
c.429C>G (p.Pro143=)
11g.2588784C>TCA028577KCNQ1c.966C>T (p.Pro322=)
c.783C>T (p.Pro261=)
c.1323C>T (p.Pro441=)
c.942C>T (p.Pro314=)
c.429C>T (p.Pro143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588785C>ACA379135052KCNQ1c.967C>A (p.His323Asn)
c.784C>A (p.His262Asn)
c.1324C>A (p.His442Asn)
c.943C>A (p.His315Asn)
c.430C>A (p.His144Asn)
11g.2588785C=CA1948235701KCNQ1c.967C= (p.His323=)
c.784C= (p.His262=)
c.1324C= (p.His442=)
c.943C= (p.His315=)
c.430C= (p.His144=)
11g.2588785C>GCA216334749KCNQ1c.967C>G (p.His323Asp)
c.784C>G (p.His262Asp)
c.1324C>G (p.His442Asp)
c.943C>G (p.His315Asp)
c.430C>G (p.His144Asp)
 ClinVar dbSNP gnomAD v4
11g.2588785C>TCA379135053KCNQ1c.967C>T (p.His323Tyr)
c.784C>T (p.His262Tyr)
c.1324C>T (p.His442Tyr)
c.943C>T (p.His315Tyr)
c.430C>T (p.His144Tyr)
11g.2588785_2588786delinsCACA1948235708KCNQ1c.967_968delinsCA (p.His323=)
c.784_785delinsCA (p.His262=)
c.1324_1325delinsCA (p.His442=)
c.943_944delinsCA (p.His315=)
c.430_431delinsCA (p.His144=)
11g.2588786delCA645372890KCNQ1c.968del (p.His323LeufsTer24)
c.785del (p.His262LeufsTer24)
c.1325del (p.His442LeufsTer24)
c.944del (p.His315LeufsTer24)
c.431del (p.His144LeufsTer24)
 ClinVar dbSNP
11g.2588786A=CA1948235726KCNQ1c.968A= (p.His323=)
c.785A= (p.His262=)
c.1325A= (p.His442=)
c.944A= (p.His315=)
c.431A= (p.His144=)
11g.2588786A>CCA379135054KCNQ1c.968A>C (p.His323Pro)
c.785A>C (p.His262Pro)
c.1325A>C (p.His442Pro)
c.944A>C (p.His315Pro)
c.431A>C (p.His144Pro)
11g.2588786A>GCA028596KCNQ1c.968A>G (p.His323Arg)
c.785A>G (p.His262Arg)
c.1325A>G (p.His442Arg)
c.944A>G (p.His315Arg)
c.431A>G (p.His144Arg)
 dbSNP ExAC gnomAD v2
11g.2588786A>TCA379135055KCNQ1c.968A>T (p.His323Leu)
c.785A>T (p.His262Leu)
c.1325A>T (p.His442Leu)
c.944A>T (p.His315Leu)
c.431A>T (p.His144Leu)
11g.2588787T>ACA379135056KCNQ1c.969T>A (p.His323Gln)
c.786T>A (p.His262Gln)
c.1326T>A (p.His442Gln)
c.945T>A (p.His315Gln)
c.432T>A (p.His144Gln)
11g.2588787T>CCA472039853KCNQ1c.969T>C (p.His323=)
c.786T>C (p.His262=)
c.1326T>C (p.His442=)
c.945T>C (p.His315=)
c.432T>C (p.His144=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2588787T>GCA379135057KCNQ1c.969T>G (p.His323Gln)
c.786T>G (p.His262Gln)
c.1326T>G (p.His442Gln)
c.945T>G (p.His315Gln)
c.432T>G (p.His144Gln)
11g.2588787T=CA1948235736KCNQ1c.969T= (p.His323=)
c.786T= (p.His262=)
c.1326T= (p.His442=)
c.945T= (p.His315=)
c.432T= (p.His144=)
11g.2588787_2588788insTTTTAATGCA597432456KCNQ1c.969_970insTTTTAATG (p.Ile324PhefsTer2)
c.786_787insTTTTAATG (p.Ile263PhefsTer2)
c.1326_1327insTTTTAATG (p.Ile443PhefsTer2)
c.945_946insTTTTAATG (p.Ile316PhefsTer2)
c.432_433insTTTTAATG (p.Ile145PhefsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588788A=CA1948235746KCNQ1c.970A= (p.Ile324=)
c.787A= (p.Ile263=)
c.1327A= (p.Ile443=)
c.946A= (p.Ile316=)
c.433A= (p.Ile145=)
11g.2588788A>CCA379135058KCNQ1c.970A>C (p.Ile324Leu)
c.787A>C (p.Ile263Leu)
c.1327A>C (p.Ile443Leu)
c.946A>C (p.Ile316Leu)
c.433A>C (p.Ile145Leu)
11g.2588788A>GCA379135060KCNQ1c.970A>G (p.Ile324Val)
c.787A>G (p.Ile263Val)
c.1327A>G (p.Ile443Val)
c.946A>G (p.Ile316Val)
c.433A>G (p.Ile145Val)
 ClinVar dbSNP gnomAD v4
11g.2588788A>TCA379135059KCNQ1c.970A>T (p.Ile324Phe)
c.787A>T (p.Ile263Phe)
c.1327A>T (p.Ile443Phe)
c.946A>T (p.Ile316Phe)
c.433A>T (p.Ile145Phe)
11g.2588789T>ACA379135061KCNQ1c.971T>A (p.Ile324Asn)
c.788T>A (p.Ile263Asn)
c.1328T>A (p.Ile443Asn)
c.947T>A (p.Ile316Asn)
c.434T>A (p.Ile145Asn)
11g.2588789T>CCA379135062KCNQ1c.971T>C (p.Ile324Thr)
c.788T>C (p.Ile263Thr)
c.1328T>C (p.Ile443Thr)
c.947T>C (p.Ile316Thr)
c.434T>C (p.Ile145Thr)
11g.2588789T>GCA379135063KCNQ1c.971T>G (p.Ile324Ser)
c.788T>G (p.Ile263Ser)
c.1328T>G (p.Ile443Ser)
c.947T>G (p.Ile316Ser)
c.434T>G (p.Ile145Ser)
11g.2588789_2588790delinsTCCA1948235752KCNQ1c.971_972delinsTC (p.Ile324=)
c.788_789delinsTC (p.Ile263=)
c.1328_1329delinsTC (p.Ile443=)
c.947_948delinsTC (p.Ile316=)
c.434_435delinsTC (p.Ile145=)
11g.2588790delCA597432457KCNQ1c.972del (p.Thr325ArgfsTer22)
c.789del (p.Thr264ArgfsTer22)
c.1329del (p.Thr444ArgfsTer22)
c.948del (p.Thr317ArgfsTer22)
c.435del (p.Thr146ArgfsTer22)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588790C>ACA472039858KCNQ1c.972C>A (p.Ile324=)
c.789C>A (p.Ile263=)
c.1329C>A (p.Ile443=)
c.948C>A (p.Ile316=)
c.435C>A (p.Ile145=)
11g.2588790C>GCA379135064KCNQ1c.972C>G (p.Ile324Met)
c.789C>G (p.Ile263Met)
c.1329C>G (p.Ile443Met)
c.948C>G (p.Ile316Met)
c.435C>G (p.Ile145Met)
11g.2588790C>TCA472039861KCNQ1c.972C>T (p.Ile324=)
c.789C>T (p.Ile263=)
c.1329C>T (p.Ile443=)
c.948C>T (p.Ile316=)
c.435C>T (p.Ile145=)
 gnomAD v4
11g.2588790_2588791delinsCACA1948235758KCNQ1c.972_973delinsCA (p.Ile324=)
c.789_790delinsCA (p.Ile263=)
c.1329_1330delinsCA (p.Ile443=)
c.948_949delinsCA (p.Ile316=)
c.435_436delinsCA (p.Ile145=)
11g.2588791delCA913203391KCNQ1c.973del (p.Thr325ArgfsTer22)
c.790del (p.Thr264ArgfsTer22)
c.1330del (p.Thr444ArgfsTer22)
c.949del (p.Thr317ArgfsTer22)
c.436del (p.Thr146ArgfsTer22)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2588791A>CCA379135065KCNQ1c.973A>C (p.Thr325Pro)
c.790A>C (p.Thr264Pro)
c.1330A>C (p.Thr444Pro)
c.949A>C (p.Thr317Pro)
c.436A>C (p.Thr146Pro)
11g.2588791A>GCA379135066KCNQ1c.973A>G (p.Thr325Ala)
c.790A>G (p.Thr264Ala)
c.1330A>G (p.Thr444Ala)
c.949A>G (p.Thr317Ala)
c.436A>G (p.Thr146Ala)
11g.2588791A>TCA379135067KCNQ1c.973A>T (p.Thr325Ser)
c.790A>T (p.Thr264Ser)
c.1330A>T (p.Thr444Ser)
c.949A>T (p.Thr317Ser)
c.436A>T (p.Thr146Ser)
11g.2588792C>ACA028614KCNQ1c.974C>A (p.Thr325Lys)
c.791C>A (p.Thr264Lys)
c.1331C>A (p.Thr444Lys)
c.950C>A (p.Thr317Lys)
c.437C>A (p.Thr146Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588792C=CA1948235766KCNQ1c.974C= (p.Thr325=)
c.791C= (p.Thr264=)
c.1331C= (p.Thr444=)
c.950C= (p.Thr317=)
c.437C= (p.Thr146=)
11g.2588792C>GCA379135068KCNQ1c.974C>G (p.Thr325Arg)
c.791C>G (p.Thr264Arg)
c.1331C>G (p.Thr444Arg)
c.950C>G (p.Thr317Arg)
c.437C>G (p.Thr146Arg)
11g.2588792C>TCA028637KCNQ1c.974C>T (p.Thr325Met)
c.791C>T (p.Thr264Met)
c.1331C>T (p.Thr444Met)
c.950C>T (p.Thr317Met)
c.437C>T (p.Thr146Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588793G>ACA028654KCNQ1c.975G>A (p.Thr325=)
c.792G>A (p.Thr264=)
c.1332G>A (p.Thr444=)
c.951G>A (p.Thr317=)
c.438G>A (p.Thr146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2588793G>CCA472039867KCNQ1c.975G>C (p.Thr325=)
c.792G>C (p.Thr264=)
c.1332G>C (p.Thr444=)
c.951G>C (p.Thr317=)
c.438G>C (p.Thr146=)
11g.2588793G=CA1948235777KCNQ1c.975G= (p.Thr325=)
c.792G= (p.Thr264=)
c.1332G= (p.Thr444=)
c.951G= (p.Thr317=)
c.438G= (p.Thr146=)
11g.2588793G>TCA028671KCNQ1c.975G>T (p.Thr325=)
c.792G>T (p.Thr264=)
c.1332G>T (p.Thr444=)
c.951G>T (p.Thr317=)
c.438G>T (p.Thr146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.2588794delCA597432458KCNQ1c.976del (p.Cys326AlafsTer21)
c.793del (p.Cys265AlafsTer21)
c.1333del (p.Cys445AlafsTer21)
c.952del (p.Cys318AlafsTer21)
c.439del (p.Cys147AlafsTer21)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588794T>ACA379135071KCNQ1c.976T>A (p.Cys326Ser)
c.793T>A (p.Cys265Ser)
c.1333T>A (p.Cys445Ser)
c.952T>A (p.Cys318Ser)
c.439T>A (p.Cys147Ser)
11g.2588794T>CCA379135069KCNQ1c.976T>C (p.Cys326Arg)
c.793T>C (p.Cys265Arg)
c.1333T>C (p.Cys445Arg)
c.952T>C (p.Cys318Arg)
c.439T>C (p.Cys147Arg)
11g.2588794T>GCA379135070KCNQ1c.976T>G (p.Cys326Gly)
c.793T>G (p.Cys265Gly)
c.1333T>G (p.Cys445Gly)
c.952T>G (p.Cys318Gly)
c.439T>G (p.Cys147Gly)
 dbSNP
11g.2588794T=CA1948235790KCNQ1c.976T= (p.Cys326=)
c.793T= (p.Cys265=)
c.1333T= (p.Cys445=)
c.952T= (p.Cys318=)
c.439T= (p.Cys147=)
11g.2588795G>ACA379135072KCNQ1c.977G>A (p.Cys326Tyr)
c.794G>A (p.Cys265Tyr)
c.1334G>A (p.Cys445Tyr)
c.953G>A (p.Cys318Tyr)
c.440G>A (p.Cys147Tyr)
11g.2588795G>CCA379135073KCNQ1c.977G>C (p.Cys326Ser)
c.794G>C (p.Cys265Ser)
c.1334G>C (p.Cys445Ser)
c.953G>C (p.Cys318Ser)
c.440G>C (p.Cys147Ser)
11g.2588795G>TCA379135074KCNQ1c.977G>T (p.Cys326Phe)
c.794G>T (p.Cys265Phe)
c.1334G>T (p.Cys445Phe)
c.953G>T (p.Cys318Phe)
c.440G>T (p.Cys147Phe)
11g.2588796C>ACA379135075KCNQ1c.978C>A (p.Cys326Ter)
c.795C>A (p.Cys265Ter)
c.1335C>A (p.Cys445Ter)
c.954C>A (p.Cys318Ter)
c.441C>A (p.Cys147Ter)
11g.2588796C=CA1948235795KCNQ1c.978C= (p.Cys326=)
c.795C= (p.Cys265=)
c.1335C= (p.Cys445=)
c.954C= (p.Cys318=)
c.441C= (p.Cys147=)
11g.2588796C>GCA379135076KCNQ1c.978C>G (p.Cys326Trp)
c.795C>G (p.Cys265Trp)
c.1335C>G (p.Cys445Trp)
c.954C>G (p.Cys318Trp)
c.441C>G (p.Cys147Trp)
11g.2588796C>TCA216334845KCNQ1c.978C>T (p.Cys326=)
c.795C>T (p.Cys265=)
c.1335C>T (p.Cys445=)
c.954C>T (p.Cys318=)
c.441C>T (p.Cys147=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588797G>ACA005599KCNQ1c.979G>A (p.Asp327Asn)
c.796G>A (p.Asp266Asn)
c.1336G>A (p.Asp446Asn)
c.955G>A (p.Asp319Asn)
c.442G>A (p.Asp148Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588797G>CCA379135077KCNQ1c.979G>C (p.Asp327His)
c.796G>C (p.Asp266His)
c.1336G>C (p.Asp446His)
c.955G>C (p.Asp319His)
c.442G>C (p.Asp148His)
11g.2588797G=CA1948235804KCNQ1c.979G= (p.Asp327=)
c.796G= (p.Asp266=)
c.1336G= (p.Asp446=)
c.955G= (p.Asp319=)
c.442G= (p.Asp148=)
11g.2588797G>TCA379135078KCNQ1c.979G>T (p.Asp327Tyr)
c.796G>T (p.Asp266Tyr)
c.1336G>T (p.Asp446Tyr)
c.955G>T (p.Asp319Tyr)
c.442G>T (p.Asp148Tyr)
11g.2588798A>CCA379135079KCNQ1c.980A>C (p.Asp327Ala)
c.797A>C (p.Asp266Ala)
c.1337A>C (p.Asp446Ala)
c.956A>C (p.Asp319Ala)
c.443A>C (p.Asp148Ala)
11g.2588798A>GCA379135080KCNQ1c.980A>G (p.Asp327Gly)
c.797A>G (p.Asp266Gly)
c.1337A>G (p.Asp446Gly)
c.956A>G (p.Asp319Gly)
c.443A>G (p.Asp148Gly)
 ClinVar
11g.2588798A>TCA379135081KCNQ1c.980A>T (p.Asp327Val)
c.797A>T (p.Asp266Val)
c.1337A>T (p.Asp446Val)
c.956A>T (p.Asp319Val)
c.443A>T (p.Asp148Val)
11g.2588798_2588799delinsACCA1948235810KCNQ1c.980_981delinsAC (p.Asp327=)
c.797_798delinsAC (p.Asp266=)
c.1337_1338delinsAC (p.Asp446=)
c.956_957delinsAC (p.Asp319=)
c.443_444delinsAC (p.Asp148=)
11g.2588799C>ACA379135082KCNQ1c.981C>A (p.Asp327Glu)
c.798C>A (p.Asp266Glu)
c.1338C>A (p.Asp446Glu)
c.957C>A (p.Asp319Glu)
c.444C>A (p.Asp148Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588799C=CA1948235831KCNQ1c.981C= (p.Asp327=)
c.798C= (p.Asp266=)
c.1338C= (p.Asp446=)
c.957C= (p.Asp319=)
c.444C= (p.Asp148=)
11g.2588799C>GCA005607KCNQ1c.981C>G (p.Asp327Glu)
c.798C>G (p.Asp266Glu)
c.1338C>G (p.Asp446Glu)
c.957C>G (p.Asp319Glu)
c.444C>G (p.Asp148Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588799C>TCA472039881KCNQ1c.981C>T (p.Asp327=)
c.798C>T (p.Asp266=)
c.1338C>T (p.Asp446=)
c.957C>T (p.Asp319=)
c.444C>T (p.Asp148=)
11g.2588804dupCA005612KCNQ1c.986dup (p.Glu330ArgfsTer14)
c.803dup (p.Glu269ArgfsTer14)
c.1343dup (p.Glu449ArgfsTer14)
c.962dup (p.Glu322ArgfsTer14)
c.449dup (p.Glu151ArgfsTer14)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588804delCA005637KCNQ1c.986del (p.Pro329GlnfsTer18)
c.803del (p.Pro268GlnfsTer18)
c.1343del (p.Pro448GlnfsTer18)
c.962del (p.Pro321GlnfsTer18)
c.449del (p.Pro150GlnfsTer18)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588800C>ACA379135083KCNQ1c.982C>A (p.Pro328Thr)
c.799C>A (p.Pro267Thr)
c.1339C>A (p.Pro447Thr)
c.958C>A (p.Pro320Thr)
c.445C>A (p.Pro149Thr)
 gnomAD v4
11g.2588800C>GCA379135084KCNQ1c.982C>G (p.Pro328Ala)
c.799C>G (p.Pro267Ala)
c.1339C>G (p.Pro447Ala)
c.958C>G (p.Pro320Ala)
c.445C>G (p.Pro149Ala)
11g.2588800C>TCA379135085KCNQ1c.982C>T (p.Pro328Ser)
c.799C>T (p.Pro267Ser)
c.1339C>T (p.Pro447Ser)
c.958C>T (p.Pro320Ser)
c.445C>T (p.Pro149Ser)
11g.2588801C>ACA028729KCNQ1c.983C>A (p.Pro328His)
c.800C>A (p.Pro267His)
c.1340C>A (p.Pro447His)
c.959C>A (p.Pro320His)
c.446C>A (p.Pro149His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588801C=CA1948236048KCNQ1c.983C= (p.Pro328=)
c.800C= (p.Pro267=)
c.1340C= (p.Pro447=)
c.959C= (p.Pro320=)
c.446C= (p.Pro149=)
11g.2588801C>GCA379135086KCNQ1c.983C>G (p.Pro328Arg)
c.800C>G (p.Pro267Arg)
c.1340C>G (p.Pro447Arg)
c.959C>G (p.Pro320Arg)
c.446C>G (p.Pro149Arg)
11g.2588801C>TCA379135087KCNQ1c.983C>T (p.Pro328Leu)
c.800C>T (p.Pro267Leu)
c.1340C>T (p.Pro447Leu)
c.959C>T (p.Pro320Leu)
c.446C>T (p.Pro149Leu)
11g.2588802C>ACA472039887KCNQ1c.984C>A (p.Pro328=)
c.801C>A (p.Pro267=)
c.1341C>A (p.Pro447=)
c.960C>A (p.Pro320=)
c.447C>A (p.Pro149=)
 gnomAD v4
11g.2588802C=CA1948236061KCNQ1c.984C= (p.Pro328=)
c.801C= (p.Pro267=)
c.1341C= (p.Pro447=)
c.960C= (p.Pro320=)
c.447C= (p.Pro149=)
11g.2588802C>GCA472039889KCNQ1c.984C>G (p.Pro328=)
c.801C>G (p.Pro267=)
c.1341C>G (p.Pro447=)
c.960C>G (p.Pro320=)
c.447C>G (p.Pro149=)
11g.2588802C>TCA028744KCNQ1c.984C>T (p.Pro328=)
c.801C>T (p.Pro267=)
c.1341C>T (p.Pro447=)
c.960C>T (p.Pro320=)
c.447C>T (p.Pro149=)
 ClinVar dbSNP ExAC COSMIC COSMIC
11g.2588803C>ACA379135088KCNQ1c.985C>A (p.Pro329Thr)
c.802C>A (p.Pro268Thr)
c.1342C>A (p.Pro448Thr)
c.961C>A (p.Pro321Thr)
c.448C>A (p.Pro150Thr)
11g.2588803C=CA1948236075KCNQ1c.985C= (p.Pro329=)
c.802C= (p.Pro268=)
c.1342C= (p.Pro448=)
c.961C= (p.Pro321=)
c.448C= (p.Pro150=)
11g.2588803C>GCA379135089KCNQ1c.985C>G (p.Pro329Ala)
c.802C>G (p.Pro268Ala)
c.1342C>G (p.Pro448Ala)
c.961C>G (p.Pro321Ala)
c.448C>G (p.Pro150Ala)
11g.2588803C>TCA028757KCNQ1c.985C>T (p.Pro329Ser)
c.802C>T (p.Pro268Ser)
c.1342C>T (p.Pro448Ser)
c.961C>T (p.Pro321Ser)
c.448C>T (p.Pro150Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588804C>ACA028774KCNQ1c.986C>A (p.Pro329Gln)
c.803C>A (p.Pro268Gln)
c.1343C>A (p.Pro448Gln)
c.962C>A (p.Pro321Gln)
c.449C>A (p.Pro150Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588804C=CA1948236092KCNQ1c.986C= (p.Pro329=)
c.803C= (p.Pro268=)
c.1343C= (p.Pro448=)
c.962C= (p.Pro321=)
c.449C= (p.Pro150=)
11g.2588804C>GCA005620KCNQ1c.986C>G (p.Pro329Arg)
c.803C>G (p.Pro268Arg)
c.1343C>G (p.Pro448Arg)
c.962C>G (p.Pro321Arg)
c.449C>G (p.Pro150Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588804C>TCA005629KCNQ1c.986C>T (p.Pro329Leu)
c.803C>T (p.Pro268Leu)
c.1343C>T (p.Pro448Leu)
c.962C>T (p.Pro321Leu)
c.449C>T (p.Pro150Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2588805A=CA1948236108KCNQ1c.987A= (p.Pro329=)
c.804A= (p.Pro268=)
c.1344A= (p.Pro448=)
c.963A= (p.Pro321=)
c.450A= (p.Pro150=)
11g.2588805A>CCA472039894KCNQ1c.987A>C (p.Pro329=)
c.804A>C (p.Pro268=)
c.1344A>C (p.Pro448=)
c.963A>C (p.Pro321=)
c.450A>C (p.Pro150=)
11g.2588805A>GCA472039896KCNQ1c.987A>G (p.Pro329=)
c.804A>G (p.Pro268=)
c.1344A>G (p.Pro448=)
c.963A>G (p.Pro321=)
c.450A>G (p.Pro150=)
11g.2588805A>TCA472039897KCNQ1c.987A>T (p.Pro329=)
c.804A>T (p.Pro268=)
c.1344A>T (p.Pro448=)
c.963A>T (p.Pro321=)
c.450A>T (p.Pro150=)
11g.2588805dupCA1948236104KCNQ1c.987dup (p.Glu330ArgfsTer14)
c.804dup (p.Glu269ArgfsTer14)
c.1344dup (p.Glu449ArgfsTer14)
c.963dup (p.Glu322ArgfsTer14)
c.450dup (p.Glu151ArgfsTer14)
 ClinVar dbSNP gnomAD v4
11g.2588806G>ACA028825KCNQ1c.988G>A (p.Glu330Lys)
c.805G>A (p.Glu269Lys)
c.1345G>A (p.Glu449Lys)
c.964G>A (p.Glu322Lys)
c.451G>A (p.Glu151Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2588806G>CCA379135090KCNQ1c.988G>C (p.Glu330Gln)
c.805G>C (p.Glu269Gln)
c.1345G>C (p.Glu449Gln)
c.964G>C (p.Glu322Gln)
c.451G>C (p.Glu151Gln)
11g.2588806G=CA1948236121KCNQ1c.988G= (p.Glu330=)
c.805G= (p.Glu269=)
c.1345G= (p.Glu449=)
c.964G= (p.Glu322=)
c.451G= (p.Glu151=)
11g.2588806G>TCA379135091KCNQ1c.988G>T (p.Glu330Ter)
c.805G>T (p.Glu269Ter)
c.1345G>T (p.Glu449Ter)
c.964G>T (p.Glu322Ter)
c.451G>T (p.Glu151Ter)
 gnomAD v4
11g.2588806dupCA005648KCNQ1c.988dup (p.Glu330GlyfsTer14)
c.805dup (p.Glu269GlyfsTer14)
c.1345dup (p.Glu449GlyfsTer14)
c.964dup (p.Glu322GlyfsTer14)
c.451dup (p.Glu151GlyfsTer14)
 ClinVar dbSNP
11g.2588807A>CCA379135092KCNQ1c.989A>C (p.Glu330Ala)
c.806A>C (p.Glu269Ala)
c.1346A>C (p.Glu449Ala)
c.965A>C (p.Glu322Ala)
c.452A>C (p.Glu151Ala)
11g.2588807A>GCA379135093KCNQ1c.989A>G (p.Glu330Gly)
c.806A>G (p.Glu269Gly)
c.1346A>G (p.Glu449Gly)
c.965A>G (p.Glu322Gly)
c.452A>G (p.Glu151Gly)
11g.2588807A>TCA379135094KCNQ1c.989A>T (p.Glu330Val)
c.806A>T (p.Glu269Val)
c.1346A>T (p.Glu449Val)
c.965A>T (p.Glu322Val)
c.452A>T (p.Glu151Val)
11g.2588808A>CCA379135095KCNQ1c.990A>C (p.Glu330Asp)
c.807A>C (p.Glu269Asp)
c.1347A>C (p.Glu449Asp)
c.966A>C (p.Glu322Asp)
c.453A>C (p.Glu151Asp)
11g.2588808A>GCA472039903KCNQ1c.990A>G (p.Glu330=)
c.807A>G (p.Glu269=)
c.1347A>G (p.Glu449=)
c.966A>G (p.Glu322=)
c.453A>G (p.Glu151=)
 gnomAD v4
11g.2588808A>TCA379135096KCNQ1c.990A>T (p.Glu330Asp)
c.807A>T (p.Glu269Asp)
c.1347A>T (p.Glu449Asp)
c.966A>T (p.Glu322Asp)
c.453A>T (p.Glu151Asp)
11g.2588809G>ACA028841KCNQ1c.991G>A (p.Glu331Lys)
c.808G>A (p.Glu270Lys)
c.1348G>A (p.Glu450Lys)
c.967G>A (p.Glu323Lys)
c.454G>A (p.Glu152Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2588809G>CCA379135097KCNQ1c.991G>C (p.Glu331Gln)
c.808G>C (p.Glu270Gln)
c.1348G>C (p.Glu450Gln)
c.967G>C (p.Glu323Gln)
c.454G>C (p.Glu152Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.2588809G=CA1948236131KCNQ1c.991G= (p.Glu331=)
c.808G= (p.Glu270=)
c.1348G= (p.Glu450=)
c.967G= (p.Glu323=)
c.454G= (p.Glu152=)
11g.2588809G>TCA379135098KCNQ1c.991G>T (p.Glu331Ter)
c.808G>T (p.Glu270Ter)
c.1348G>T (p.Glu450Ter)
c.967G>T (p.Glu323Ter)
c.454G>T (p.Glu152Ter)
11g.2588810A=CA1948236135KCNQ1c.992A= (p.Glu331=)
c.809A= (p.Glu270=)
c.1349A= (p.Glu450=)
c.968A= (p.Glu323=)
c.455A= (p.Glu152=)
11g.2588810A>CCA379135099KCNQ1c.992A>C (p.Glu331Ala)
c.809A>C (p.Glu270Ala)
c.1349A>C (p.Glu450Ala)
c.968A>C (p.Glu323Ala)
c.455A>C (p.Glu152Ala)
11g.2588810A>GCA16043459KCNQ1c.992A>G (p.Glu331Gly)
c.809A>G (p.Glu270Gly)
c.1349A>G (p.Glu450Gly)
c.968A>G (p.Glu323Gly)
c.455A>G (p.Glu152Gly)
 ClinVar dbSNP gnomAD v4
11g.2588810A>TCA379135100KCNQ1c.992A>T (p.Glu331Val)
c.809A>T (p.Glu270Val)
c.1349A>T (p.Glu450Val)
c.968A>T (p.Glu323Val)
c.455A>T (p.Glu152Val)
11g.2588811G>ACA028851KCNQ1c.993G>A (p.Glu331=)
c.810G>A (p.Glu270=)
c.1350G>A (p.Glu450=)
c.969G>A (p.Glu323=)
c.456G>A (p.Glu152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2588811G>CCA379135102KCNQ1c.993G>C (p.Glu331Asp)
c.810G>C (p.Glu270Asp)
c.1350G>C (p.Glu450Asp)
c.969G>C (p.Glu323Asp)
c.456G>C (p.Glu152Asp)
11g.2588811G=CA1948236150KCNQ1c.993G= (p.Glu331=)
c.810G= (p.Glu270=)
c.1350G= (p.Glu450=)
c.969G= (p.Glu323=)
c.456G= (p.Glu152=)
11g.2588811G>TCA379135101KCNQ1c.993G>T (p.Glu331Asp)
c.810G>T (p.Glu270Asp)
c.1350G>T (p.Glu450Asp)
c.969G>T (p.Glu323Asp)
c.456G>T (p.Glu152Asp)
11g.2588812C>ACA472039912KCNQ1c.994C>A (p.Arg332=)
c.811C>A (p.Arg271=)
c.1351C>A (p.Arg451=)
c.970C>A (p.Arg324=)
c.457C>A (p.Arg153=)
11g.2588812C=CA1948236159KCNQ1c.994C= (p.Arg332=)
c.811C= (p.Arg271=)
c.1351C= (p.Arg451=)
c.970C= (p.Arg324=)
c.457C= (p.Arg153=)
11g.2588812C>GCA379135103KCNQ1c.994C>G (p.Arg332Gly)
c.811C>G (p.Arg271Gly)
c.1351C>G (p.Arg451Gly)
c.970C>G (p.Arg324Gly)
c.457C>G (p.Arg153Gly)
11g.2588812C>TCA005661KCNQ1c.994C>T (p.Arg332Trp)
c.811C>T (p.Arg271Trp)
c.1351C>T (p.Arg451Trp)
c.970C>T (p.Arg324Trp)
c.457C>T (p.Arg153Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched