Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2775977C>ACA005987KCNQ1c.1251C>A (p.Tyr417Ter)
c.1068C>A (p.Tyr356Ter)
c.1608C>A (p.Tyr536Ter)
c.1227C>A (p.Tyr409Ter)
c.714C>A (p.Tyr238Ter)
 ClinVar dbSNP gnomAD v4
11g.2775977C=CA1948314032KCNQ1c.1251C= (p.Tyr417=)
c.1068C= (p.Tyr356=)
c.1608C= (p.Tyr536=)
c.1227C= (p.Tyr409=)
c.714C= (p.Tyr238=)
11g.2775977C>GCA379139092KCNQ1c.1251C>G (p.Tyr417Ter)
c.1068C>G (p.Tyr356Ter)
c.1608C>G (p.Tyr536Ter)
c.1227C>G (p.Tyr409Ter)
c.714C>G (p.Tyr238Ter)
11g.2775977C>TCA031500KCNQ1c.1251C>T (p.Tyr417=)
c.1068C>T (p.Tyr356=)
c.1608C>T (p.Tyr536=)
c.1227C>T (p.Tyr409=)
c.714C>T (p.Tyr238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2775978G>ACA379139093KCNQ1c.1252G>A (p.Asp418Asn)
c.1069G>A (p.Asp357Asn)
c.1609G>A (p.Asp537Asn)
c.1228G>A (p.Asp410Asn)
c.715G>A (p.Asp239Asn)
 gnomAD v4
11g.2775978G>CCA379139095KCNQ1c.1252G>C (p.Asp418His)
c.1069G>C (p.Asp357His)
c.1609G>C (p.Asp537His)
c.1228G>C (p.Asp410His)
c.715G>C (p.Asp239His)
11g.2775978G>TCA379139094KCNQ1c.1252G>T (p.Asp418Tyr)
c.1069G>T (p.Asp357Tyr)
c.1609G>T (p.Asp537Tyr)
c.1228G>T (p.Asp410Tyr)
c.715G>T (p.Asp239Tyr)
 gnomAD v4
11g.2775979_2775983dupCA658658028KCNQ1c.1253_1257dup (p.Arg420MetfsTer?)
c.1070_1074dup (p.Arg359MetfsTer?)
c.1610_1614dup (p.Arg539MetfsTer?)
c.1229_1233dup (p.Arg412MetfsTer?)
c.716_720dup (p.Arg241MetfsTer?)
 ClinVar dbSNP
11g.2775979A>CCA379139096KCNQ1c.1253A>C (p.Asp418Ala)
c.1070A>C (p.Asp357Ala)
c.1610A>C (p.Asp537Ala)
c.1229A>C (p.Asp410Ala)
c.716A>C (p.Asp239Ala)
11g.2775979A>GCA379139098KCNQ1c.1253A>G (p.Asp418Gly)
c.1070A>G (p.Asp357Gly)
c.1610A>G (p.Asp537Gly)
c.1229A>G (p.Asp410Gly)
c.716A>G (p.Asp239Gly)
 gnomAD v4
11g.2775979A>TCA379139097KCNQ1c.1253A>T (p.Asp418Val)
c.1070A>T (p.Asp357Val)
c.1610A>T (p.Asp537Val)
c.1229A>T (p.Asp410Val)
c.716A>T (p.Asp239Val)
 gnomAD v4
11g.2775980T>ACA379139099KCNQ1c.1254T>A (p.Asp418Glu)
c.1071T>A (p.Asp357Glu)
c.1611T>A (p.Asp537Glu)
c.1230T>A (p.Asp410Glu)
c.717T>A (p.Asp239Glu)
11g.2775980T>CCA472464447KCNQ1c.1254T>C (p.Asp418=)
c.1071T>C (p.Asp357=)
c.1611T>C (p.Asp537=)
c.1230T>C (p.Asp410=)
c.717T>C (p.Asp239=)
 ClinVar dbSNP gnomAD v4
11g.2775980T>GCA379139100KCNQ1c.1254T>G (p.Asp418Glu)
c.1071T>G (p.Asp357Glu)
c.1611T>G (p.Asp537Glu)
c.1230T>G (p.Asp410Glu)
c.717T>G (p.Asp239Glu)
11g.2775980T=CA1948314033KCNQ1c.1254T= (p.Asp418=)
c.1071T= (p.Asp357=)
c.1611T= (p.Asp537=)
c.1230T= (p.Asp410=)
c.717T= (p.Asp239=)
11g.2775981G>ACA379139101KCNQ1c.1255G>A (p.Val419Met)
c.1072G>A (p.Val358Met)
c.1612G>A (p.Val538Met)
c.1231G>A (p.Val411Met)
c.718G>A (p.Val240Met)
 dbSNP gnomAD v4
11g.2775981G>CCA379139102KCNQ1c.1255G>C (p.Val419Leu)
c.1072G>C (p.Val358Leu)
c.1612G>C (p.Val538Leu)
c.1231G>C (p.Val411Leu)
c.718G>C (p.Val240Leu)
11g.2775981G=CA1948314034KCNQ1c.1255G= (p.Val419=)
c.1072G= (p.Val358=)
c.1612G= (p.Val538=)
c.1231G= (p.Val411=)
c.718G= (p.Val240=)
11g.2775981G>TCA379139103KCNQ1c.1255G>T (p.Val419Leu)
c.1072G>T (p.Val358Leu)
c.1612G>T (p.Val538Leu)
c.1231G>T (p.Val411Leu)
c.718G>T (p.Val240Leu)
11g.2775982T>ACA379139104KCNQ1c.1256T>A (p.Val419Glu)
c.1073T>A (p.Val358Glu)
c.1613T>A (p.Val538Glu)
c.1232T>A (p.Val411Glu)
c.719T>A (p.Val240Glu)
 gnomAD v4
11g.2775982T>CCA379139105KCNQ1c.1256T>C (p.Val419Ala)
c.1073T>C (p.Val358Ala)
c.1613T>C (p.Val538Ala)
c.1232T>C (p.Val411Ala)
c.719T>C (p.Val240Ala)
 gnomAD v4
11g.2775982T>GCA379139106KCNQ1c.1256T>G (p.Val419Gly)
c.1073T>G (p.Val358Gly)
c.1613T>G (p.Val538Gly)
c.1232T>G (p.Val411Gly)
c.719T>G (p.Val240Gly)
11g.2775983G>ACA472464456KCNQ1c.1257G>A (p.Val419=)
c.1074G>A (p.Val358=)
c.1614G>A (p.Val538=)
c.1233G>A (p.Val411=)
c.720G>A (p.Val240=)
 gnomAD v4
11g.2775983G>CCA472464457KCNQ1c.1257G>C (p.Val419=)
c.1074G>C (p.Val358=)
c.1614G>C (p.Val538=)
c.1233G>C (p.Val411=)
c.720G>C (p.Val240=)
 gnomAD v4
11g.2775983G>TCA472464459KCNQ1c.1257G>T (p.Val419=)
c.1074G>T (p.Val358=)
c.1614G>T (p.Val538=)
c.1233G>T (p.Val411=)
c.720G>T (p.Val240=)
 gnomAD v4
11g.2775984C>ACA472464461KCNQ1c.1258C>A (p.Arg420=)
c.1075C>A (p.Arg359=)
c.1615C>A (p.Arg539=)
c.1234C>A (p.Arg412=)
c.721C>A (p.Arg241=)
 gnomAD v4
11g.2775984C=CA1948314035KCNQ1c.1258C= (p.Arg420=)
c.1075C= (p.Arg359=)
c.1615C= (p.Arg539=)
c.1234C= (p.Arg412=)
c.721C= (p.Arg241=)
11g.2775984C>GCA379139107KCNQ1c.1258C>G (p.Arg420Gly)
c.1075C>G (p.Arg359Gly)
c.1615C>G (p.Arg539Gly)
c.1234C>G (p.Arg412Gly)
c.721C>G (p.Arg241Gly)
 gnomAD v4
11g.2775984C>TCA005994KCNQ1c.1258C>T (p.Arg420Trp)
c.1075C>T (p.Arg359Trp)
c.1615C>T (p.Arg539Trp)
c.1234C>T (p.Arg412Trp)
c.721C>T (p.Arg241Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2775985G>ACA006001KCNQ1c.1259G>A (p.Arg420Gln)
c.1076G>A (p.Arg359Gln)
c.1616G>A (p.Arg539Gln)
c.1235G>A (p.Arg412Gln)
c.722G>A (p.Arg241Gln)
 ClinVar dbSNP gnomAD v4
11g.2775985G>CCA379139108KCNQ1c.1259G>C (p.Arg420Pro)
c.1076G>C (p.Arg359Pro)
c.1616G>C (p.Arg539Pro)
c.1235G>C (p.Arg412Pro)
c.722G>C (p.Arg241Pro)
 dbSNP gnomAD v2
11g.2775985G=CA1948314036KCNQ1c.1259G= (p.Arg420=)
c.1076G= (p.Arg359=)
c.1616G= (p.Arg539=)
c.1235G= (p.Arg412=)
c.722G= (p.Arg241=)
11g.2775985G>TCA379139109KCNQ1c.1259G>T (p.Arg420Leu)
c.1076G>T (p.Arg359Leu)
c.1616G>T (p.Arg539Leu)
c.1235G>T (p.Arg412Leu)
c.722G>T (p.Arg241Leu)
 gnomAD v4
11g.2775987delCA2612008628KCNQ1c.1261del (p.Asp421ThrfsTer?)
c.1078del (p.Asp360ThrfsTer?)
c.1618del (p.Asp540ThrfsTer?)
c.1237del (p.Asp413ThrfsTer?)
c.724del (p.Asp242ThrfsTer?)
 gnomAD v4
11g.2775986G>ACA472464471KCNQ1c.1260G>A (p.Arg420=)
c.1077G>A (p.Arg359=)
c.1617G>A (p.Arg539=)
c.1236G>A (p.Arg412=)
c.723G>A (p.Arg241=)
 gnomAD v4
11g.2775986G>CCA472464473KCNQ1c.1260G>C (p.Arg420=)
c.1077G>C (p.Arg359=)
c.1617G>C (p.Arg539=)
c.1236G>C (p.Arg412=)
c.723G>C (p.Arg241=)
 gnomAD v4
11g.2775986G>TCA472464476KCNQ1c.1260G>T (p.Arg420=)
c.1077G>T (p.Arg359=)
c.1617G>T (p.Arg539=)
c.1236G>T (p.Arg412=)
c.723G>T (p.Arg241=)
 gnomAD v4
11g.2775987G>ACA379139112KCNQ1c.1261G>A (p.Asp421Asn)
c.1078G>A (p.Asp360Asn)
c.1618G>A (p.Asp540Asn)
c.1237G>A (p.Asp413Asn)
c.724G>A (p.Asp242Asn)
 gnomAD v4
11g.2775987G>CCA379139111KCNQ1c.1261G>C (p.Asp421His)
c.1078G>C (p.Asp360His)
c.1618G>C (p.Asp540His)
c.1237G>C (p.Asp413His)
c.724G>C (p.Asp242His)
 gnomAD v4
11g.2775987G>TCA379139110KCNQ1c.1261G>T (p.Asp421Tyr)
c.1078G>T (p.Asp360Tyr)
c.1618G>T (p.Asp540Tyr)
c.1237G>T (p.Asp413Tyr)
c.724G>T (p.Asp242Tyr)
 gnomAD v4
11g.2775988A>CCA379139113KCNQ1c.1262A>C (p.Asp421Ala)
c.1079A>C (p.Asp360Ala)
c.1619A>C (p.Asp540Ala)
c.1238A>C (p.Asp413Ala)
c.725A>C (p.Asp242Ala)
11g.2775988A>GCA379139114KCNQ1c.1262A>G (p.Asp421Gly)
c.1079A>G (p.Asp360Gly)
c.1619A>G (p.Asp540Gly)
c.1238A>G (p.Asp413Gly)
c.725A>G (p.Asp242Gly)
11g.2775988A>TCA379139115KCNQ1c.1262A>T (p.Asp421Val)
c.1079A>T (p.Asp360Val)
c.1619A>T (p.Asp540Val)
c.1238A>T (p.Asp413Val)
c.725A>T (p.Asp242Val)
11g.2775989C>ACA379139116KCNQ1c.1263C>A (p.Asp421Glu)
c.1080C>A (p.Asp360Glu)
c.1620C>A (p.Asp540Glu)
c.1239C>A (p.Asp413Glu)
c.726C>A (p.Asp242Glu)
 gnomAD v4
11g.2775989C>GCA379139117KCNQ1c.1263C>G (p.Asp421Glu)
c.1080C>G (p.Asp360Glu)
c.1620C>G (p.Asp540Glu)
c.1239C>G (p.Asp413Glu)
c.726C>G (p.Asp242Glu)
11g.2775989C>TCA472464490KCNQ1c.1263C>T (p.Asp421=)
c.1080C>T (p.Asp360=)
c.1620C>T (p.Asp540=)
c.1239C>T (p.Asp413=)
c.726C>T (p.Asp242=)
 gnomAD v4
11g.2775990G>ACA006005KCNQ1c.1264G>A (p.Val422Ile)
c.1081G>A (p.Val361Ile)
c.1621G>A (p.Val541Ile)
c.1240G>A (p.Val414Ile)
c.727G>A (p.Val243Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2775990G>CCA379139118KCNQ1c.1264G>C (p.Val422Leu)
c.1081G>C (p.Val361Leu)
c.1621G>C (p.Val541Leu)
c.1240G>C (p.Val414Leu)
c.727G>C (p.Val243Leu)
 gnomAD v4
11g.2775990G=CA1948314037KCNQ1c.1264G= (p.Val422=)
c.1081G= (p.Val361=)
c.1621G= (p.Val541=)
c.1240G= (p.Val414=)
c.727G= (p.Val243=)
11g.2775990G>TCA379139119KCNQ1c.1264G>T (p.Val422Phe)
c.1081G>T (p.Val361Phe)
c.1621G>T (p.Val541Phe)
c.1240G>T (p.Val414Phe)
c.727G>T (p.Val243Phe)
 gnomAD v4

Number of alleles fetched