Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2587566_2587592delCA2740093574KCNQ1c.772-4_794del
c.589-4_611del
c.1129-4_1151del
c.748-4_770del
c.235-4_257del
 ClinVar
11g.2587583G>ACA005402KCNQ1c.785G>A (p.Cys262Tyr)
c.602G>A (p.Cys201Tyr)
c.1142G>A (p.Cys381Tyr)
c.761G>A (p.Cys254Tyr)
c.248G>A (p.Cys83Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587583G>CCA379134663KCNQ1c.785G>C (p.Cys262Ser)
c.602G>C (p.Cys201Ser)
c.1142G>C (p.Cys381Ser)
c.761G>C (p.Cys254Ser)
c.248G>C (p.Cys83Ser)
11g.2587583G=CA1948233052KCNQ1c.785G= (p.Cys262=)
c.602G= (p.Cys201=)
c.1142G= (p.Cys381=)
c.761G= (p.Cys254=)
c.248G= (p.Cys83=)
11g.2587583G>TCA379134664KCNQ1c.785G>T (p.Cys262Phe)
c.602G>T (p.Cys201Phe)
c.1142G>T (p.Cys381Phe)
c.761G>T (p.Cys254Phe)
c.248G>T (p.Cys83Phe)
 gnomAD v4
11g.2587584C>ACA379134665KCNQ1c.786C>A (p.Cys262Ter)
c.603C>A (p.Cys201Ter)
c.1143C>A (p.Cys381Ter)
c.762C>A (p.Cys254Ter)
c.249C>A (p.Cys83Ter)
11g.2587584C=CA1948233059KCNQ1c.786C= (p.Cys262=)
c.603C= (p.Cys201=)
c.1143C= (p.Cys381=)
c.762C= (p.Cys254=)
c.249C= (p.Cys83=)
11g.2587584C>GCA379134666KCNQ1c.786C>G (p.Cys262Trp)
c.603C>G (p.Cys201Trp)
c.1143C>G (p.Cys381Trp)
c.762C>G (p.Cys254Trp)
c.249C>G (p.Cys83Trp)
 ClinVar dbSNP gnomAD v4
11g.2587584C>TCA472039031KCNQ1c.786C>T (p.Cys262=)
c.603C>T (p.Cys201=)
c.1143C>T (p.Cys381=)
c.762C>T (p.Cys254=)
c.249C>T (p.Cys83=)
11g.2587585T>ACA379134667KCNQ1c.787T>A (p.Tyr263Asn)
c.604T>A (p.Tyr202Asn)
c.1144T>A (p.Tyr382Asn)
c.763T>A (p.Tyr255Asn)
c.250T>A (p.Tyr84Asn)
11g.2587585T>CCA379134669KCNQ1c.787T>C (p.Tyr263His)
c.604T>C (p.Tyr202His)
c.1144T>C (p.Tyr382His)
c.763T>C (p.Tyr255His)
c.250T>C (p.Tyr84His)
 gnomAD v4
11g.2587585T>GCA379134668KCNQ1c.787T>G (p.Tyr263Asp)
c.604T>G (p.Tyr202Asp)
c.1144T>G (p.Tyr382Asp)
c.763T>G (p.Tyr255Asp)
c.250T>G (p.Tyr84Asp)
11g.2587586A>CCA379134670KCNQ1c.788A>C (p.Tyr263Ser)
c.605A>C (p.Tyr202Ser)
c.1145A>C (p.Tyr382Ser)
c.764A>C (p.Tyr255Ser)
c.251A>C (p.Tyr84Ser)
11g.2587586A>GCA379134671KCNQ1c.788A>G (p.Tyr263Cys)
c.605A>G (p.Tyr202Cys)
c.1145A>G (p.Tyr382Cys)
c.764A>G (p.Tyr255Cys)
c.251A>G (p.Tyr84Cys)
 ClinVar
11g.2587586A>TCA379134672KCNQ1c.788A>T (p.Tyr263Phe)
c.605A>T (p.Tyr202Phe)
c.1145A>T (p.Tyr382Phe)
c.764A>T (p.Tyr255Phe)
c.251A>T (p.Tyr84Phe)
11g.2587587T>ACA379134673KCNQ1c.789T>A (p.Tyr263Ter)
c.606T>A (p.Tyr202Ter)
c.1146T>A (p.Tyr382Ter)
c.765T>A (p.Tyr255Ter)
c.252T>A (p.Tyr84Ter)
11g.2587587T>CCA472039037KCNQ1c.789T>C (p.Tyr263=)
c.606T>C (p.Tyr202=)
c.1146T>C (p.Tyr382=)
c.765T>C (p.Tyr255=)
c.252T>C (p.Tyr84=)
 ClinVar dbSNP gnomAD v4
11g.2587587T>GCA379134674KCNQ1c.789T>G (p.Tyr263Ter)
c.606T>G (p.Tyr202Ter)
c.1146T>G (p.Tyr382Ter)
c.765T>G (p.Tyr255Ter)
c.252T>G (p.Tyr84Ter)
11g.2587588G>ACA379134675KCNQ1c.790G>A (p.Ala264Thr)
c.607G>A (p.Ala203Thr)
c.1147G>A (p.Ala383Thr)
c.766G>A (p.Ala256Thr)
c.253G>A (p.Ala85Thr)
11g.2587588G>CCA379134676KCNQ1c.790G>C (p.Ala264Pro)
c.607G>C (p.Ala203Pro)
c.1147G>C (p.Ala383Pro)
c.766G>C (p.Ala256Pro)
c.253G>C (p.Ala85Pro)
11g.2587588G>TCA379134677KCNQ1c.790G>T (p.Ala264Ser)
c.607G>T (p.Ala203Ser)
c.1147G>T (p.Ala383Ser)
c.766G>T (p.Ala256Ser)
c.253G>T (p.Ala85Ser)
11g.2587589C>ACA379134678KCNQ1c.791C>A (p.Ala264Asp)
c.608C>A (p.Ala203Asp)
c.1148C>A (p.Ala383Asp)
c.767C>A (p.Ala256Asp)
c.254C>A (p.Ala85Asp)
11g.2587589C=CA1948233067KCNQ1c.791C= (p.Ala264=)
c.608C= (p.Ala203=)
c.1148C= (p.Ala383=)
c.767C= (p.Ala256=)
c.254C= (p.Ala85=)
11g.2587589C>GCA379134679KCNQ1c.791C>G (p.Ala264Gly)
c.608C>G (p.Ala203Gly)
c.1148C>G (p.Ala383Gly)
c.767C>G (p.Ala256Gly)
c.254C>G (p.Ala85Gly)
11g.2587589C>TCA379134680KCNQ1c.791C>T (p.Ala264Val)
c.608C>T (p.Ala203Val)
c.1148C>T (p.Ala383Val)
c.767C>T (p.Ala256Val)
c.254C>T (p.Ala85Val)
11g.2587589dupCA2573146068KCNQ1c.791dup (p.Ala265CysfsTer?)
c.608dup (p.Ala204CysfsTer?)
c.1148dup (p.Ala384CysfsTer?)
c.767dup (p.Ala257CysfsTer?)
c.254dup (p.Ala86CysfsTer?)
 ClinVar dbSNP
11g.2587590T>ACA472039044KCNQ1c.792T>A (p.Ala264=)
c.609T>A (p.Ala203=)
c.1149T>A (p.Ala383=)
c.768T>A (p.Ala256=)
c.255T>A (p.Ala85=)
11g.2587590T>CCA472039046KCNQ1c.792T>C (p.Ala264=)
c.609T>C (p.Ala203=)
c.1149T>C (p.Ala383=)
c.768T>C (p.Ala256=)
c.255T>C (p.Ala85=)
11g.2587590T>GCA472039047KCNQ1c.792T>G (p.Ala264=)
c.609T>G (p.Ala203=)
c.1149T>G (p.Ala383=)
c.768T>G (p.Ala256=)
c.255T>G (p.Ala85=)
11g.2587590dupCA005409KCNQ1c.792dup (p.Ala265CysfsTer?)
c.609dup (p.Ala204CysfsTer?)
c.1149dup (p.Ala384CysfsTer?)
c.768dup (p.Ala257CysfsTer?)
c.255dup (p.Ala86CysfsTer?)
 ClinVar dbSNP
11g.2587591G>ACA379134681KCNQ1c.793G>A (p.Ala265Thr)
c.610G>A (p.Ala204Thr)
c.1150G>A (p.Ala384Thr)
c.769G>A (p.Ala257Thr)
c.256G>A (p.Ala86Thr)
 ClinVar dbSNP
11g.2587591G>CCA379134683KCNQ1c.793G>C (p.Ala265Pro)
c.610G>C (p.Ala204Pro)
c.1150G>C (p.Ala384Pro)
c.769G>C (p.Ala257Pro)
c.256G>C (p.Ala86Pro)
11g.2587591G=CA1948233079KCNQ1c.793G= (p.Ala265=)
c.610G= (p.Ala204=)
c.1150G= (p.Ala384=)
c.769G= (p.Ala257=)
c.256G= (p.Ala86=)
11g.2587591G>TCA379134682KCNQ1c.793G>T (p.Ala265Ser)
c.610G>T (p.Ala204Ser)
c.1150G>T (p.Ala384Ser)
c.769G>T (p.Ala257Ser)
c.256G>T (p.Ala86Ser)
11g.2587592C>ACA379134684KCNQ1c.794C>A (p.Ala265Asp)
c.611C>A (p.Ala204Asp)
c.1151C>A (p.Ala384Asp)
c.770C>A (p.Ala257Asp)
c.257C>A (p.Ala86Asp)
11g.2587592C>GCA379134686KCNQ1c.794C>G (p.Ala265Gly)
c.611C>G (p.Ala204Gly)
c.1151C>G (p.Ala384Gly)
c.770C>G (p.Ala257Gly)
c.257C>G (p.Ala86Gly)
11g.2587592C>TCA379134685KCNQ1c.794C>T (p.Ala265Val)
c.611C>T (p.Ala204Val)
c.1151C>T (p.Ala384Val)
c.770C>T (p.Ala257Val)
c.257C>T (p.Ala86Val)
 COSMIC COSMIC
11g.2587593C>ACA472039055KCNQ1c.795C>A (p.Ala265=)
c.612C>A (p.Ala204=)
c.1152C>A (p.Ala384=)
c.771C>A (p.Ala257=)
c.258C>A (p.Ala86=)
11g.2587593C=CA1948233090KCNQ1c.795C= (p.Ala265=)
c.612C= (p.Ala204=)
c.1152C= (p.Ala384=)
c.771C= (p.Ala257=)
c.258C= (p.Ala86=)
11g.2587593C>GCA472039057KCNQ1c.795C>G (p.Ala265=)
c.612C>G (p.Ala204=)
c.1152C>G (p.Ala384=)
c.771C>G (p.Ala257=)
c.258C>G (p.Ala86=)
11g.2587593C>TCA027413KCNQ1c.795C>T (p.Ala265=)
c.612C>T (p.Ala204=)
c.1152C>T (p.Ala384=)
c.771C>T (p.Ala257=)
c.258C>T (p.Ala86=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587594G>ACA005418KCNQ1c.796G>A (p.Glu266Lys)
c.613G>A (p.Glu205Lys)
c.1153G>A (p.Glu385Lys)
c.772G>A (p.Glu258Lys)
c.259G>A (p.Glu87Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587594G>CCA379134687KCNQ1c.796G>C (p.Glu266Gln)
c.613G>C (p.Glu205Gln)
c.1153G>C (p.Glu385Gln)
c.772G>C (p.Glu258Gln)
c.259G>C (p.Glu87Gln)
 ClinVar dbSNP gnomAD v4
11g.2587594G=CA1948233094KCNQ1c.796G= (p.Glu266=)
c.613G= (p.Glu205=)
c.1153G= (p.Glu385=)
c.772G= (p.Glu258=)
c.259G= (p.Glu87=)
11g.2587594G>TCA379134688KCNQ1c.796G>T (p.Glu266Ter)
c.613G>T (p.Glu205Ter)
c.1153G>T (p.Glu385Ter)
c.772G>T (p.Glu258Ter)
c.259G>T (p.Glu87Ter)
11g.2587595A>CCA379134689KCNQ1c.797A>C (p.Glu266Ala)
c.614A>C (p.Glu205Ala)
c.1154A>C (p.Glu385Ala)
c.773A>C (p.Glu258Ala)
c.260A>C (p.Glu87Ala)
11g.2587595A>GCA379134690KCNQ1c.797A>G (p.Glu266Gly)
c.614A>G (p.Glu205Gly)
c.1154A>G (p.Glu385Gly)
c.773A>G (p.Glu258Gly)
c.260A>G (p.Glu87Gly)
11g.2587595A>TCA379134691KCNQ1c.797A>T (p.Glu266Val)
c.614A>T (p.Glu205Val)
c.1154A>T (p.Glu385Val)
c.773A>T (p.Glu258Val)
c.260A>T (p.Glu87Val)
11g.2587596G>ACA472039062KCNQ1c.798G>A (p.Glu266=)
c.615G>A (p.Glu205=)
c.1155G>A (p.Glu385=)
c.774G>A (p.Glu258=)
c.261G>A (p.Glu87=)
11g.2587596G>CCA379134692KCNQ1c.798G>C (p.Glu266Asp)
c.615G>C (p.Glu205Asp)
c.1155G>C (p.Glu385Asp)
c.774G>C (p.Glu258Asp)
c.261G>C (p.Glu87Asp)
11g.2587596G>TCA379134693KCNQ1c.798G>T (p.Glu266Asp)
c.615G>T (p.Glu205Asp)
c.1155G>T (p.Glu385Asp)
c.774G>T (p.Glu258Asp)
c.261G>T (p.Glu87Asp)
11g.2587597A>CCA379134694KCNQ1c.799A>C (p.Asn267His)
c.616A>C (p.Asn206His)
c.1156A>C (p.Asn386His)
c.775A>C (p.Asn259His)
c.262A>C (p.Asn88His)
11g.2587597A>GCA379134695KCNQ1c.799A>G (p.Asn267Asp)
c.616A>G (p.Asn206Asp)
c.1156A>G (p.Asn386Asp)
c.775A>G (p.Asn259Asp)
c.262A>G (p.Asn88Asp)
11g.2587597A>TCA379134696KCNQ1c.799A>T (p.Asn267Tyr)
c.616A>T (p.Asn206Tyr)
c.1156A>T (p.Asn386Tyr)
c.775A>T (p.Asn259Tyr)
c.262A>T (p.Asn88Tyr)
11g.2587598A>CCA379134697KCNQ1c.800A>C (p.Asn267Thr)
c.617A>C (p.Asn206Thr)
c.1157A>C (p.Asn386Thr)
c.776A>C (p.Asn259Thr)
c.263A>C (p.Asn88Thr)
11g.2587598A>GCA379134698KCNQ1c.800A>G (p.Asn267Ser)
c.617A>G (p.Asn206Ser)
c.1157A>G (p.Asn386Ser)
c.776A>G (p.Asn259Ser)
c.263A>G (p.Asn88Ser)
11g.2587598A>TCA379134699KCNQ1c.800A>T (p.Asn267Ile)
c.617A>T (p.Asn206Ile)
c.1157A>T (p.Asn386Ile)
c.776A>T (p.Asn259Ile)
c.263A>T (p.Asn88Ile)
11g.2587599C>ACA027462KCNQ1c.801C>A (p.Asn267Lys)
c.618C>A (p.Asn206Lys)
c.1158C>A (p.Asn386Lys)
c.777C>A (p.Asn259Lys)
c.264C>A (p.Asn88Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587599C=CA1948233102KCNQ1c.801C= (p.Asn267=)
c.618C= (p.Asn206=)
c.1158C= (p.Asn386=)
c.777C= (p.Asn259=)
c.264C= (p.Asn88=)
11g.2587599C>GCA379134700KCNQ1c.801C>G (p.Asn267Lys)
c.618C>G (p.Asn206Lys)
c.1158C>G (p.Asn386Lys)
c.777C>G (p.Asn259Lys)
c.264C>G (p.Asn88Lys)
11g.2587599C>TCA027476KCNQ1c.801C>T (p.Asn267=)
c.618C>T (p.Asn206=)
c.1158C>T (p.Asn386=)
c.777C>T (p.Asn259=)
c.264C>T (p.Asn88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587600C>ACA379134701KCNQ1c.802C>A (p.Pro268Thr)
c.619C>A (p.Pro207Thr)
c.1159C>A (p.Pro387Thr)
c.778C>A (p.Pro260Thr)
c.265C>A (p.Pro89Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.2587600C=CA1948233112KCNQ1c.802C= (p.Pro268=)
c.619C= (p.Pro207=)
c.1159C= (p.Pro387=)
c.778C= (p.Pro260=)
c.265C= (p.Pro89=)
11g.2587600C>GCA379134702KCNQ1c.802C>G (p.Pro268Ala)
c.619C>G (p.Pro207Ala)
c.1159C>G (p.Pro387Ala)
c.778C>G (p.Pro260Ala)
c.265C>G (p.Pro89Ala)
11g.2587600C>TCA379134703KCNQ1c.802C>T (p.Pro268Ser)
c.619C>T (p.Pro207Ser)
c.1159C>T (p.Pro387Ser)
c.778C>T (p.Pro260Ser)
c.265C>T (p.Pro89Ser)
 ClinVar
11g.2587601C>ACA379134704KCNQ1c.803C>A (p.Pro268His)
c.620C>A (p.Pro207His)
c.1160C>A (p.Pro387His)
c.779C>A (p.Pro260His)
c.266C>A (p.Pro89His)
11g.2587601C=CA1948233120KCNQ1c.803C= (p.Pro268=)
c.620C= (p.Pro207=)
c.1160C= (p.Pro387=)
c.779C= (p.Pro260=)
c.266C= (p.Pro89=)
11g.2587601C>GCA379134705KCNQ1c.803C>G (p.Pro268Arg)
c.620C>G (p.Pro207Arg)
c.1160C>G (p.Pro387Arg)
c.779C>G (p.Pro260Arg)
c.266C>G (p.Pro89Arg)
11g.2587601C>TCA379134706KCNQ1c.803C>T (p.Pro268Leu)
c.620C>T (p.Pro207Leu)
c.1160C>T (p.Pro387Leu)
c.779C>T (p.Pro260Leu)
c.266C>T (p.Pro89Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.2587602C>ACA472039074KCNQ1c.804C>A (p.Pro268=)
c.621C>A (p.Pro207=)
c.1161C>A (p.Pro387=)
c.780C>A (p.Pro260=)
c.267C>A (p.Pro89=)
11g.2587602C=CA1948233128KCNQ1c.804C= (p.Pro268=)
c.621C= (p.Pro207=)
c.1161C= (p.Pro387=)
c.780C= (p.Pro260=)
c.267C= (p.Pro89=)
11g.2587602C>GCA472039075KCNQ1c.804C>G (p.Pro268=)
c.621C>G (p.Pro207=)
c.1161C>G (p.Pro387=)
c.780C>G (p.Pro260=)
c.267C>G (p.Pro89=)
11g.2587602C>TCA027492KCNQ1c.804C>T (p.Pro268=)
c.621C>T (p.Pro207=)
c.1161C>T (p.Pro387=)
c.780C>T (p.Pro260=)
c.267C>T (p.Pro89=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587603G>ACA027506KCNQ1c.805G>A (p.Asp269Asn)
c.622G>A (p.Asp208Asn)
c.1162G>A (p.Asp388Asn)
c.781G>A (p.Asp261Asn)
c.268G>A (p.Asp90Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587603G>CCA027518KCNQ1c.805G>C (p.Asp269His)
c.622G>C (p.Asp208His)
c.1162G>C (p.Asp388His)
c.781G>C (p.Asp261His)
c.268G>C (p.Asp90His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587603G=CA1948233142KCNQ1c.805G= (p.Asp269=)
c.622G= (p.Asp208=)
c.1162G= (p.Asp388=)
c.781G= (p.Asp261=)
c.268G= (p.Asp90=)
11g.2587603G>TCA379134707KCNQ1c.805G>T (p.Asp269Tyr)
c.622G>T (p.Asp208Tyr)
c.1162G>T (p.Asp388Tyr)
c.781G>T (p.Asp261Tyr)
c.268G>T (p.Asp90Tyr)
11g.2587604A=CA1948233150KCNQ1c.806A= (p.Asp269=)
c.623A= (p.Asp208=)
c.1163A= (p.Asp388=)
c.782A= (p.Asp261=)
c.269A= (p.Asp90=)
11g.2587604A>CCA379134710KCNQ1c.806A>C (p.Asp269Ala)
c.623A>C (p.Asp208Ala)
c.1163A>C (p.Asp388Ala)
c.782A>C (p.Asp261Ala)
c.269A>C (p.Asp90Ala)
11g.2587604A>GCA379134709KCNQ1c.806A>G (p.Asp269Gly)
c.623A>G (p.Asp208Gly)
c.1163A>G (p.Asp388Gly)
c.782A>G (p.Asp261Gly)
c.269A>G (p.Asp90Gly)
 gnomAD v4
11g.2587604A>TCA379134708KCNQ1c.806A>T (p.Asp269Val)
c.623A>T (p.Asp208Val)
c.1163A>T (p.Asp388Val)
c.782A>T (p.Asp261Val)
c.269A>T (p.Asp90Val)
 dbSNP gnomAD v3 gnomAD v4
11g.2587605C>ACA379134711KCNQ1c.807C>A (p.Asp269Glu)
c.624C>A (p.Asp208Glu)
c.1164C>A (p.Asp388Glu)
c.783C>A (p.Asp261Glu)
c.270C>A (p.Asp90Glu)
11g.2587605C=CA1948233160KCNQ1c.807C= (p.Asp269=)
c.624C= (p.Asp208=)
c.1164C= (p.Asp388=)
c.783C= (p.Asp261=)
c.270C= (p.Asp90=)
11g.2587605C>GCA379134712KCNQ1c.807C>G (p.Asp269Glu)
c.624C>G (p.Asp208Glu)
c.1164C>G (p.Asp388Glu)
c.783C>G (p.Asp261Glu)
c.270C>G (p.Asp90Glu)
11g.2587605C>TCA216332699KCNQ1c.807C>T (p.Asp269=)
c.624C>T (p.Asp208=)
c.1164C>T (p.Asp388=)
c.783C>T (p.Asp261=)
c.270C>T (p.Asp90=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587609_2587611dupCA16619311KCNQ1c.811_813dup (p.Ser271_Thr272insSer)
c.628_630dup (p.Ser210_Thr211insSer)
c.1168_1170dup (p.Ser390_Thr391insSer)
c.787_789dup (p.Ser263_Thr264insSer)
c.274_276dup (p.Ser92_Thr93insSer)
 ClinVar dbSNP
11g.2587606T>ACA379134713KCNQ1c.808T>A (p.Ser270Thr)
c.625T>A (p.Ser209Thr)
c.1165T>A (p.Ser389Thr)
c.784T>A (p.Ser262Thr)
c.271T>A (p.Ser91Thr)
11g.2587606T>CCA005423KCNQ1c.808T>C (p.Ser270Pro)
c.625T>C (p.Ser209Pro)
c.1165T>C (p.Ser389Pro)
c.784T>C (p.Ser262Pro)
c.271T>C (p.Ser91Pro)
 ClinVar dbSNP
11g.2587606T>GCA379134714KCNQ1c.808T>G (p.Ser270Ala)
c.625T>G (p.Ser209Ala)
c.1165T>G (p.Ser389Ala)
c.784T>G (p.Ser262Ala)
c.271T>G (p.Ser91Ala)
 ClinVar dbSNP
11g.2587606T=CA1948233175KCNQ1c.808T= (p.Ser270=)
c.625T= (p.Ser209=)
c.1165T= (p.Ser389=)
c.784T= (p.Ser262=)
c.271T= (p.Ser91=)
11g.2587606_2587607delinsGACA658797568KCNQ1c.808_809delinsGA (p.Ser270Asp)
c.625_626delinsGA (p.Ser209Asp)
c.1165_1166delinsGA (p.Ser389Asp)
c.784_785delinsGA (p.Ser262Asp)
c.271_272delinsGA (p.Ser91Asp)
 ClinVar
11g.2587607C>ACA005431KCNQ1c.809C>A (p.Ser270Tyr)
c.626C>A (p.Ser209Tyr)
c.1166C>A (p.Ser389Tyr)
c.785C>A (p.Ser262Tyr)
c.272C>A (p.Ser91Tyr)
 ClinVar dbSNP
11g.2587607C=CA1948233188KCNQ1c.809C= (p.Ser270=)
c.626C= (p.Ser209=)
c.1166C= (p.Ser389=)
c.785C= (p.Ser262=)
c.272C= (p.Ser91=)
11g.2587607C>GCA379134715KCNQ1c.809C>G (p.Ser270Cys)
c.626C>G (p.Ser209Cys)
c.1166C>G (p.Ser389Cys)
c.785C>G (p.Ser262Cys)
c.272C>G (p.Ser91Cys)
11g.2587607C>TCA379134716KCNQ1c.809C>T (p.Ser270Phe)
c.626C>T (p.Ser209Phe)
c.1166C>T (p.Ser389Phe)
c.785C>T (p.Ser262Phe)
c.272C>T (p.Ser91Phe)
 ClinVar COSMIC COSMIC
11g.2587608C>ACA472039088KCNQ1c.810C>A (p.Ser270=)
c.627C>A (p.Ser209=)
c.1167C>A (p.Ser389=)
c.786C>A (p.Ser262=)
c.273C>A (p.Ser91=)
11g.2587608C=CA1948233194KCNQ1c.810C= (p.Ser270=)
c.627C= (p.Ser209=)
c.1167C= (p.Ser389=)
c.786C= (p.Ser262=)
c.273C= (p.Ser91=)
11g.2587608C>GCA472039090KCNQ1c.810C>G (p.Ser270=)
c.627C>G (p.Ser209=)
c.1167C>G (p.Ser389=)
c.786C>G (p.Ser262=)
c.273C>G (p.Ser91=)
 dbSNP gnomAD v3 gnomAD v4
11g.2587608C>TCA472039089KCNQ1c.810C>T (p.Ser270=)
c.627C>T (p.Ser209=)
c.1167C>T (p.Ser389=)
c.786C>T (p.Ser262=)
c.273C>T (p.Ser91=)
 dbSNP gnomAD v2 gnomAD v4
11g.2587609T>ACA379134717KCNQ1c.811T>A (p.Ser271Thr)
c.628T>A (p.Ser210Thr)
c.1168T>A (p.Ser390Thr)
c.787T>A (p.Ser263Thr)
c.274T>A (p.Ser92Thr)
11g.2587609T>CCA379134718KCNQ1c.811T>C (p.Ser271Pro)
c.628T>C (p.Ser210Pro)
c.1168T>C (p.Ser390Pro)
c.787T>C (p.Ser263Pro)
c.274T>C (p.Ser92Pro)
11g.2587609T>GCA379134719KCNQ1c.811T>G (p.Ser271Ala)
c.628T>G (p.Ser210Ala)
c.1168T>G (p.Ser390Ala)
c.787T>G (p.Ser263Ala)
c.274T>G (p.Ser92Ala)
11g.2587610C>ACA379134722KCNQ1c.812C>A (p.Ser271Tyr)
c.629C>A (p.Ser210Tyr)
c.1169C>A (p.Ser390Tyr)
c.788C>A (p.Ser263Tyr)
c.275C>A (p.Ser92Tyr)
11g.2587610C=CA1948233196KCNQ1c.812C= (p.Ser271=)
c.629C= (p.Ser210=)
c.1169C= (p.Ser390=)
c.788C= (p.Ser263=)
c.275C= (p.Ser92=)
11g.2587610C>GCA379134720KCNQ1c.812C>G (p.Ser271Cys)
c.629C>G (p.Ser210Cys)
c.1169C>G (p.Ser390Cys)
c.788C>G (p.Ser263Cys)
c.275C>G (p.Ser92Cys)
 dbSNP
11g.2587610C>TCA379134721KCNQ1c.812C>T (p.Ser271Phe)
c.629C>T (p.Ser210Phe)
c.1169C>T (p.Ser390Phe)
c.788C>T (p.Ser263Phe)
c.275C>T (p.Ser92Phe)
 gnomAD v4
11g.2587612_2587614dupCA658761337KCNQ1c.814_816dup (p.Thr272_Trp273insThr)
c.631_633dup (p.Thr211_Trp212insThr)
c.1171_1173dup (p.Thr391_Trp392insThr)
c.790_792dup (p.Thr264_Trp265insThr)
c.277_279dup (p.Thr93_Trp94insThr)
11g.2587611C>ACA472039099KCNQ1c.813C>A (p.Ser271=)
c.630C>A (p.Ser210=)
c.1170C>A (p.Ser390=)
c.789C>A (p.Ser263=)
c.276C>A (p.Ser92=)
11g.2587611C>GCA472039096KCNQ1c.813C>G (p.Ser271=)
c.630C>G (p.Ser210=)
c.1170C>G (p.Ser390=)
c.789C>G (p.Ser263=)
c.276C>G (p.Ser92=)
11g.2587611C>TCA472039098KCNQ1c.813C>T (p.Ser271=)
c.630C>T (p.Ser210=)
c.1170C>T (p.Ser390=)
c.789C>T (p.Ser263=)
c.276C>T (p.Ser92=)
 gnomAD v4
11g.2587612A=CA1948233203KCNQ1c.814A= (p.Thr272=)
c.631A= (p.Thr211=)
c.1171A= (p.Thr391=)
c.790A= (p.Thr264=)
c.277A= (p.Thr93=)
11g.2587612A>CCA379134723KCNQ1c.814A>C (p.Thr272Pro)
c.631A>C (p.Thr211Pro)
c.1171A>C (p.Thr391Pro)
c.790A>C (p.Thr264Pro)
c.277A>C (p.Thr93Pro)
 ClinVar
11g.2587612A>GCA379134724KCNQ1c.814A>G (p.Thr272Ala)
c.631A>G (p.Thr211Ala)
c.1171A>G (p.Thr391Ala)
c.790A>G (p.Thr264Ala)
c.277A>G (p.Thr93Ala)
 dbSNP gnomAD v2
11g.2587612A>TCA379134725KCNQ1c.814A>T (p.Thr272Ser)
c.631A>T (p.Thr211Ser)
c.1171A>T (p.Thr391Ser)
c.790A>T (p.Thr264Ser)
c.277A>T (p.Thr93Ser)
11g.2587613C>ACA379134726KCNQ1c.815C>A (p.Thr272Asn)
c.632C>A (p.Thr211Asn)
c.1172C>A (p.Thr391Asn)
c.791C>A (p.Thr264Asn)
c.278C>A (p.Thr93Asn)
11g.2587613C=CA1948233208KCNQ1c.815C= (p.Thr272=)
c.632C= (p.Thr211=)
c.1172C= (p.Thr391=)
c.791C= (p.Thr264=)
c.278C= (p.Thr93=)
11g.2587613C>GCA379134727KCNQ1c.815C>G (p.Thr272Ser)
c.632C>G (p.Thr211Ser)
c.1172C>G (p.Thr391Ser)
c.791C>G (p.Thr264Ser)
c.278C>G (p.Thr93Ser)
11g.2587613C>TCA005438KCNQ1c.815C>T (p.Thr272Ile)
c.632C>T (p.Thr211Ile)
c.1172C>T (p.Thr391Ile)
c.791C>T (p.Thr264Ile)
c.278C>T (p.Thr93Ile)
 ClinVar dbSNP
11g.2587614C>ACA472039102KCNQ1c.816C>A (p.Thr272=)
c.633C>A (p.Thr211=)
c.1173C>A (p.Thr391=)
c.792C>A (p.Thr264=)
c.279C>A (p.Thr93=)
11g.2587614C=CA1948233219KCNQ1c.816C= (p.Thr272=)
c.633C= (p.Thr211=)
c.1173C= (p.Thr391=)
c.792C= (p.Thr264=)
c.279C= (p.Thr93=)
11g.2587614C>GCA472039104KCNQ1c.816C>G (p.Thr272=)
c.633C>G (p.Thr211=)
c.1173C>G (p.Thr391=)
c.792C>G (p.Thr264=)
c.279C>G (p.Thr93=)
11g.2587614C>TCA027533KCNQ1c.816C>T (p.Thr272=)
c.633C>T (p.Thr211=)
c.1173C>T (p.Thr391=)
c.792C>T (p.Thr264=)
c.279C>T (p.Thr93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587615T>ACA379134728KCNQ1c.817T>A (p.Trp273Arg)
c.634T>A (p.Trp212Arg)
c.1174T>A (p.Trp392Arg)
c.793T>A (p.Trp265Arg)
c.280T>A (p.Trp94Arg)
11g.2587615T>CCA005449KCNQ1c.817T>C (p.Trp273Arg)
c.634T>C (p.Trp212Arg)
c.1174T>C (p.Trp392Arg)
c.793T>C (p.Trp265Arg)
c.280T>C (p.Trp94Arg)
 ClinVar dbSNP
11g.2587615T>GCA379134729KCNQ1c.817T>G (p.Trp273Gly)
c.634T>G (p.Trp212Gly)
c.1174T>G (p.Trp392Gly)
c.793T>G (p.Trp265Gly)
c.280T>G (p.Trp94Gly)
11g.2587615T=CA1948233234KCNQ1c.817T= (p.Trp273=)
c.634T= (p.Trp212=)
c.1174T= (p.Trp392=)
c.793T= (p.Trp265=)
c.280T= (p.Trp94=)
11g.2587615_2587617dupCA005455KCNQ1c.817_819dup (p.Trp273_Lys274insTrp)
c.634_636dup (p.Trp212_Lys213insTrp)
c.1174_1176dup (p.Trp392_Lys393insTrp)
c.793_795dup (p.Trp265_Lys266insTrp)
c.280_282dup (p.Trp94_Lys95insTrp)
 ClinVar dbSNP gnomAD v4
11g.2587616G>ACA16613564KCNQ1c.818G>A (p.Trp273Ter)
c.635G>A (p.Trp212Ter)
c.1175G>A (p.Trp392Ter)
c.794G>A (p.Trp265Ter)
c.281G>A (p.Trp94Ter)
 ClinVar dbSNP
11g.2587616G>CCA379134731KCNQ1c.818G>C (p.Trp273Ser)
c.635G>C (p.Trp212Ser)
c.1175G>C (p.Trp392Ser)
c.794G>C (p.Trp265Ser)
c.281G>C (p.Trp94Ser)
11g.2587616G=CA1948233241KCNQ1c.818G= (p.Trp273=)
c.635G= (p.Trp212=)
c.1175G= (p.Trp392=)
c.794G= (p.Trp265=)
c.281G= (p.Trp94=)
11g.2587616G>TCA379134730KCNQ1c.818G>T (p.Trp273Leu)
c.635G>T (p.Trp212Leu)
c.1175G>T (p.Trp392Leu)
c.794G>T (p.Trp265Leu)
c.281G>T (p.Trp94Leu)
11g.2587617G>ACA005462KCNQ1c.819G>A (p.Trp273Ter)
c.636G>A (p.Trp212Ter)
c.1176G>A (p.Trp392Ter)
c.795G>A (p.Trp265Ter)
c.282G>A (p.Trp94Ter)
 ClinVar dbSNP
11g.2587617G>CCA379134732KCNQ1c.819G>C (p.Trp273Cys)
c.636G>C (p.Trp212Cys)
c.1176G>C (p.Trp392Cys)
c.795G>C (p.Trp265Cys)
c.282G>C (p.Trp94Cys)
11g.2587617G=CA1948233244KCNQ1c.819G= (p.Trp273=)
c.636G= (p.Trp212=)
c.1176G= (p.Trp392=)
c.795G= (p.Trp265=)
c.282G= (p.Trp94=)
11g.2587617G>TCA379134733KCNQ1c.819G>T (p.Trp273Cys)
c.636G>T (p.Trp212Cys)
c.1176G>T (p.Trp392Cys)
c.795G>T (p.Trp265Cys)
c.282G>T (p.Trp94Cys)
11g.2587619_2587621dupCA658761338KCNQ1c.821_823dup (p.Lys274_Ile275insLys)
c.638_640dup (p.Lys213_Ile214insLys)
c.1178_1180dup (p.Lys393_Ile394insLys)
c.797_799dup (p.Lys266_Ile267insLys)
c.284_286dup (p.Lys95_Ile96insLys)
11g.2587618A=CA1948233256KCNQ1c.820A= (p.Lys274=)
c.637A= (p.Lys213=)
c.1177A= (p.Lys393=)
c.796A= (p.Lys266=)
c.283A= (p.Lys95=)
11g.2587618A>CCA379134734KCNQ1c.820A>C (p.Lys274Gln)
c.637A>C (p.Lys213Gln)
c.1177A>C (p.Lys393Gln)
c.796A>C (p.Lys266Gln)
c.283A>C (p.Lys95Gln)
11g.2587618A>GCA379134735KCNQ1c.820A>G (p.Lys274Glu)
c.637A>G (p.Lys213Glu)
c.1177A>G (p.Lys393Glu)
c.796A>G (p.Lys266Glu)
c.283A>G (p.Lys95Glu)
 ClinVar dbSNP gnomAD v4
11g.2587618A>TCA379134736KCNQ1c.820A>T (p.Lys274Ter)
c.637A>T (p.Lys213Ter)
c.1177A>T (p.Lys393Ter)
c.796A>T (p.Lys266Ter)
c.283A>T (p.Lys95Ter)
11g.2587619A=CA1948233268KCNQ1c.821A= (p.Lys274=)
c.638A= (p.Lys213=)
c.1178A= (p.Lys393=)
c.797A= (p.Lys266=)
c.284A= (p.Lys95=)
11g.2587619A>CCA379134738KCNQ1c.821A>C (p.Lys274Thr)
c.638A>C (p.Lys213Thr)
c.1178A>C (p.Lys393Thr)
c.797A>C (p.Lys266Thr)
c.284A>C (p.Lys95Thr)
11g.2587619A>GCA379134737KCNQ1c.821A>G (p.Lys274Arg)
c.638A>G (p.Lys213Arg)
c.1178A>G (p.Lys393Arg)
c.797A>G (p.Lys266Arg)
c.284A>G (p.Lys95Arg)
 gnomAD v4
11g.2587619A>TCA005470KCNQ1c.821A>T (p.Lys274Met)
c.638A>T (p.Lys213Met)
c.1178A>T (p.Lys393Met)
c.797A>T (p.Lys266Met)
c.284A>T (p.Lys95Met)
 ClinVar dbSNP gnomAD v4
11g.2587620G>ACA472039119KCNQ1c.822G>A (p.Lys274=)
c.639G>A (p.Lys213=)
c.1179G>A (p.Lys393=)
c.798G>A (p.Lys266=)
c.285G>A (p.Lys95=)
11g.2587620G>CCA379134739KCNQ1c.822G>C (p.Lys274Asn)
c.639G>C (p.Lys213Asn)
c.1179G>C (p.Lys393Asn)
c.798G>C (p.Lys266Asn)
c.285G>C (p.Lys95Asn)
 ClinVar
11g.2587620G=CA1948233280KCNQ1c.822G= (p.Lys274=)
c.639G= (p.Lys213=)
c.1179G= (p.Lys393=)
c.798G= (p.Lys266=)
c.285G= (p.Lys95=)
11g.2587620G>TCA005477KCNQ1c.822G>T (p.Lys274Asn)
c.639G>T (p.Lys213Asn)
c.1179G>T (p.Lys393Asn)
c.798G>T (p.Lys266Asn)
c.285G>T (p.Lys95Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587621A=CA1948233286KCNQ1c.823A= (p.Ile275=)
c.640A= (p.Ile214=)
c.1180A= (p.Ile394=)
c.799A= (p.Ile267=)
c.286A= (p.Ile96=)
11g.2587621A>CCA379134740KCNQ1c.823A>C (p.Ile275Leu)
c.640A>C (p.Ile214Leu)
c.1180A>C (p.Ile394Leu)
c.799A>C (p.Ile267Leu)
c.286A>C (p.Ile96Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587621A>GCA379134741KCNQ1c.823A>G (p.Ile275Val)
c.640A>G (p.Ile214Val)
c.1180A>G (p.Ile394Val)
c.799A>G (p.Ile267Val)
c.286A>G (p.Ile96Val)
11g.2587621A>TCA379134742KCNQ1c.823A>T (p.Ile275Phe)
c.640A>T (p.Ile214Phe)
c.1180A>T (p.Ile394Phe)
c.799A>T (p.Ile267Phe)
c.286A>T (p.Ile96Phe)
11g.2587622T>ACA379134745KCNQ1c.824T>A (p.Ile275Asn)
c.641T>A (p.Ile214Asn)
c.1181T>A (p.Ile394Asn)
c.800T>A (p.Ile267Asn)
c.287T>A (p.Ile96Asn)
11g.2587622T>CCA379134743KCNQ1c.824T>C (p.Ile275Thr)
c.641T>C (p.Ile214Thr)
c.1181T>C (p.Ile394Thr)
c.800T>C (p.Ile267Thr)
c.287T>C (p.Ile96Thr)
 ClinVar dbSNP
11g.2587622T>GCA379134744KCNQ1c.824T>G (p.Ile275Ser)
c.641T>G (p.Ile214Ser)
c.1181T>G (p.Ile394Ser)
c.800T>G (p.Ile267Ser)
c.287T>G (p.Ile96Ser)
11g.2587622T=CA1948233291KCNQ1c.824T= (p.Ile275=)
c.641T= (p.Ile214=)
c.1181T= (p.Ile394=)
c.800T= (p.Ile267=)
c.287T= (p.Ile96=)
11g.2587623delCA2499220873KCNQ1c.825del (p.Tyr276ThrfsTer24)
c.642del (p.Tyr215ThrfsTer24)
c.1182del (p.Tyr395ThrfsTer24)
c.801del (p.Tyr268ThrfsTer24)
c.288del (p.Tyr97ThrfsTer24)
 ClinVar dbSNP
11g.2587623C>ACA472039124KCNQ1c.825C>A (p.Ile275=)
c.642C>A (p.Ile214=)
c.1182C>A (p.Ile394=)
c.801C>A (p.Ile267=)
c.288C>A (p.Ile96=)
11g.2587623C>GCA379134746KCNQ1c.825C>G (p.Ile275Met)
c.642C>G (p.Ile214Met)
c.1182C>G (p.Ile394Met)
c.801C>G (p.Ile267Met)
c.288C>G (p.Ile96Met)
11g.2587623C>TCA472039126KCNQ1c.825C>T (p.Ile275=)
c.642C>T (p.Ile214=)
c.1182C>T (p.Ile394=)
c.801C>T (p.Ile267=)
c.288C>T (p.Ile96=)
11g.2587624T>ACA379134747KCNQ1c.826T>A (p.Tyr276Asn)
c.643T>A (p.Tyr215Asn)
c.1183T>A (p.Tyr395Asn)
c.802T>A (p.Tyr268Asn)
c.289T>A (p.Tyr97Asn)
11g.2587624T>CCA379134748KCNQ1c.826T>C (p.Tyr276His)
c.643T>C (p.Tyr215His)
c.1183T>C (p.Tyr395His)
c.802T>C (p.Tyr268His)
c.289T>C (p.Tyr97His)
11g.2587624T>GCA379134749KCNQ1c.826T>G (p.Tyr276Asp)
c.643T>G (p.Tyr215Asp)
c.1183T>G (p.Tyr395Asp)
c.802T>G (p.Tyr268Asp)
c.289T>G (p.Tyr97Asp)
11g.2587625A=CA1948233296KCNQ1c.827A= (p.Tyr276=)
c.644A= (p.Tyr215=)
c.1184A= (p.Tyr395=)
c.803A= (p.Tyr268=)
c.290A= (p.Tyr97=)
11g.2587625A>CCA379134750KCNQ1c.827A>C (p.Tyr276Ser)
c.644A>C (p.Tyr215Ser)
c.1184A>C (p.Tyr395Ser)
c.803A>C (p.Tyr268Ser)
c.290A>C (p.Tyr97Ser)
11g.2587625A>GCA027563KCNQ1c.827A>G (p.Tyr276Cys)
c.644A>G (p.Tyr215Cys)
c.1184A>G (p.Tyr395Cys)
c.803A>G (p.Tyr268Cys)
c.290A>G (p.Tyr97Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587625A>TCA379134751KCNQ1c.827A>T (p.Tyr276Phe)
c.644A>T (p.Tyr215Phe)
c.1184A>T (p.Tyr395Phe)
c.803A>T (p.Tyr268Phe)
c.290A>T (p.Tyr97Phe)
11g.2587626C>ACA379134752KCNQ1c.828C>A (p.Tyr276Ter)
c.645C>A (p.Tyr215Ter)
c.1185C>A (p.Tyr395Ter)
c.804C>A (p.Tyr268Ter)
c.291C>A (p.Tyr97Ter)
11g.2587626C=CA1948233299KCNQ1c.828C= (p.Tyr276=)
c.645C= (p.Tyr215=)
c.1185C= (p.Tyr395=)
c.804C= (p.Tyr268=)
c.291C= (p.Tyr97=)
11g.2587626C>GCA379134753KCNQ1c.828C>G (p.Tyr276Ter)
c.645C>G (p.Tyr215Ter)
c.1185C>G (p.Tyr395Ter)
c.804C>G (p.Tyr268Ter)
c.291C>G (p.Tyr97Ter)
11g.2587626C>TCA027576KCNQ1c.828C>T (p.Tyr276=)
c.645C>T (p.Tyr215=)
c.1185C>T (p.Tyr395=)
c.804C>T (p.Tyr268=)
c.291C>T (p.Tyr97=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587627A>CCA379134754KCNQ1c.829A>C (p.Ile277Leu)
c.646A>C (p.Ile216Leu)
c.1186A>C (p.Ile396Leu)
c.805A>C (p.Ile269Leu)
c.292A>C (p.Ile98Leu)
11g.2587627A>GCA379134755KCNQ1c.829A>G (p.Ile277Val)
c.646A>G (p.Ile216Val)
c.1186A>G (p.Ile396Val)
c.805A>G (p.Ile269Val)
c.292A>G (p.Ile98Val)
11g.2587627A>TCA379134756KCNQ1c.829A>T (p.Ile277Phe)
c.646A>T (p.Ile216Phe)
c.1186A>T (p.Ile396Phe)
c.805A>T (p.Ile269Phe)
c.292A>T (p.Ile98Phe)
11g.2587628T>ACA379134757KCNQ1c.830T>A (p.Ile277Asn)
c.647T>A (p.Ile216Asn)
c.1187T>A (p.Ile396Asn)
c.806T>A (p.Ile269Asn)
c.293T>A (p.Ile98Asn)
11g.2587628T>CCA379134759KCNQ1c.830T>C (p.Ile277Thr)
c.647T>C (p.Ile216Thr)
c.1187T>C (p.Ile396Thr)
c.806T>C (p.Ile269Thr)
c.293T>C (p.Ile98Thr)
11g.2587628T>GCA379134758KCNQ1c.830T>G (p.Ile277Ser)
c.647T>G (p.Ile216Ser)
c.1187T>G (p.Ile396Ser)
c.806T>G (p.Ile269Ser)
c.293T>G (p.Ile98Ser)
11g.2587628_2587629delinsTCCA1948233303KCNQ1c.830_831delinsTC (p.Ile277=)
c.647_648delinsTC (p.Ile216=)
c.1187_1188delinsTC (p.Ile396=)
c.806_807delinsTC (p.Ile269=)
c.293_294delinsTC (p.Ile98=)
11g.2587629C>ACA472039137KCNQ1c.831C>A (p.Ile277=)
c.648C>A (p.Ile216=)
c.1188C>A (p.Ile396=)
c.807C>A (p.Ile269=)
c.294C>A (p.Ile98=)
 ClinVar dbSNP
11g.2587629C>GCA379134760KCNQ1c.831C>G (p.Ile277Met)
c.648C>G (p.Ile216Met)
c.1188C>G (p.Ile396Met)
c.807C>G (p.Ile269Met)
c.294C>G (p.Ile98Met)
11g.2587629C>TCA472039138KCNQ1c.831C>T (p.Ile277=)
c.648C>T (p.Ile216=)
c.1188C>T (p.Ile396=)
c.807C>T (p.Ile269=)
c.294C>T (p.Ile98=)
11g.2587630delCA005493KCNQ1c.832del (p.Arg278GlyfsTer22)
c.649del (p.Arg217GlyfsTer22)
c.1189del (p.Arg397GlyfsTer22)
c.808del (p.Arg270GlyfsTer22)
c.295del (p.Arg99GlyfsTer22)
 ClinVar dbSNP
11g.2587630C>ACA472039140KCNQ1c.832C>A (p.Arg278=)
c.649C>A (p.Arg217=)
c.1189C>A (p.Arg397=)
c.808C>A (p.Arg270=)
c.295C>A (p.Arg99=)
11g.2587630C=CA1948233319KCNQ1c.832C= (p.Arg278=)
c.649C= (p.Arg217=)
c.1189C= (p.Arg397=)
c.808C= (p.Arg270=)
c.295C= (p.Arg99=)
11g.2587630C>GCA027592KCNQ1c.832C>G (p.Arg278Gly)
c.649C>G (p.Arg217Gly)
c.1189C>G (p.Arg397Gly)
c.808C>G (p.Arg270Gly)
c.295C>G (p.Arg99Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587630C>TCA005482KCNQ1c.832C>T (p.Arg278Trp)
c.649C>T (p.Arg217Trp)
c.1189C>T (p.Arg397Trp)
c.808C>T (p.Arg270Trp)
c.295C>T (p.Arg99Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587631G>ACA027643KCNQ1c.833G>A (p.Arg278Gln)
c.650G>A (p.Arg217Gln)
c.1190G>A (p.Arg397Gln)
c.809G>A (p.Arg270Gln)
c.296G>A (p.Arg99Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587631G>CCA379134761KCNQ1c.833G>C (p.Arg278Pro)
c.650G>C (p.Arg217Pro)
c.1190G>C (p.Arg397Pro)
c.809G>C (p.Arg270Pro)
c.296G>C (p.Arg99Pro)
11g.2587631G=CA1948233331KCNQ1c.833G= (p.Arg278=)
c.650G= (p.Arg217=)
c.1190G= (p.Arg397=)
c.809G= (p.Arg270=)
c.296G= (p.Arg99=)
11g.2587631G>TCA379134762KCNQ1c.833G>T (p.Arg278Leu)
c.650G>T (p.Arg217Leu)
c.1190G>T (p.Arg397Leu)
c.809G>T (p.Arg270Leu)
c.296G>T (p.Arg99Leu)
11g.2587632G>ACA472039145KCNQ1c.834G>A (p.Arg278=)
c.651G>A (p.Arg217=)
c.1191G>A (p.Arg397=)
c.810G>A (p.Arg270=)
c.297G>A (p.Arg99=)
 COSMIC COSMIC
11g.2587632G>CCA472039146KCNQ1c.834G>C (p.Arg278=)
c.651G>C (p.Arg217=)
c.1191G>C (p.Arg397=)
c.810G>C (p.Arg270=)
c.297G>C (p.Arg99=)
11g.2587632G>TCA472039148KCNQ1c.834G>T (p.Arg278=)
c.651G>T (p.Arg217=)
c.1191G>T (p.Arg397=)
c.810G>T (p.Arg270=)
c.297G>T (p.Arg99=)
11g.2587633A>CCA379134763KCNQ1c.835A>C (p.Lys279Gln)
c.652A>C (p.Lys218Gln)
c.1192A>C (p.Lys398Gln)
c.811A>C (p.Lys271Gln)
c.298A>C (p.Lys100Gln)
11g.2587633A>GCA379134764KCNQ1c.835A>G (p.Lys279Glu)
c.652A>G (p.Lys218Glu)
c.1192A>G (p.Lys398Glu)
c.811A>G (p.Lys271Glu)
c.298A>G (p.Lys100Glu)
11g.2587633A>TCA379134765KCNQ1c.835A>T (p.Lys279Ter)
c.652A>T (p.Lys218Ter)
c.1192A>T (p.Lys398Ter)
c.811A>T (p.Lys271Ter)
c.298A>T (p.Lys100Ter)
11g.2587634A=CA1948233344KCNQ1c.836A= (p.Lys279=)
c.653A= (p.Lys218=)
c.1193A= (p.Lys398=)
c.812A= (p.Lys271=)
c.299A= (p.Lys100=)
11g.2587634A>CCA379134766KCNQ1c.836A>C (p.Lys279Thr)
c.653A>C (p.Lys218Thr)
c.1193A>C (p.Lys398Thr)
c.812A>C (p.Lys271Thr)
c.299A>C (p.Lys100Thr)
11g.2587634A>GCA005498KCNQ1c.836A>G (p.Lys279Arg)
c.653A>G (p.Lys218Arg)
c.1193A>G (p.Lys398Arg)
c.812A>G (p.Lys271Arg)
c.299A>G (p.Lys100Arg)
 ClinVar dbSNP gnomAD v4
11g.2587634A>TCA379134767KCNQ1c.836A>T (p.Lys279Met)
c.653A>T (p.Lys218Met)
c.1193A>T (p.Lys398Met)
c.812A>T (p.Lys271Met)
c.299A>T (p.Lys100Met)
11g.2587635G>ACA027669KCNQ1c.837G>A (p.Lys279=)
c.654G>A (p.Lys218=)
c.1194G>A (p.Lys398=)
c.813G>A (p.Lys271=)
c.300G>A (p.Lys100=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587635G>CCA379134769KCNQ1c.837G>C (p.Lys279Asn)
c.654G>C (p.Lys218Asn)
c.1194G>C (p.Lys398Asn)
c.813G>C (p.Lys271Asn)
c.300G>C (p.Lys100Asn)
11g.2587635G=CA1948233347KCNQ1c.837G= (p.Lys279=)
c.654G= (p.Lys218=)
c.1194G= (p.Lys398=)
c.813G= (p.Lys271=)
c.300G= (p.Lys100=)
11g.2587635G>TCA379134768KCNQ1c.837G>T (p.Lys279Asn)
c.654G>T (p.Lys218Asn)
c.1194G>T (p.Lys398Asn)
c.813G>T (p.Lys271Asn)
c.300G>T (p.Lys100Asn)
11g.2587636G>ACA379134770KCNQ1c.838G>A (p.Ala280Thr)
c.655G>A (p.Ala219Thr)
c.1195G>A (p.Ala399Thr)
c.814G>A (p.Ala272Thr)
c.301G>A (p.Ala101Thr)
11g.2587636G>CCA379134771KCNQ1c.838G>C (p.Ala280Pro)
c.655G>C (p.Ala219Pro)
c.1195G>C (p.Ala399Pro)
c.814G>C (p.Ala272Pro)
c.301G>C (p.Ala101Pro)
 gnomAD v4
11g.2587636G=CA1948233358KCNQ1c.838G= (p.Ala280=)
c.655G= (p.Ala219=)
c.1195G= (p.Ala399=)
c.814G= (p.Ala272=)
c.301G= (p.Ala101=)
11g.2587636G>TCA5822079KCNQ1c.838G>T (p.Ala280Ser)
c.655G>T (p.Ala219Ser)
c.1195G>T (p.Ala399Ser)
c.814G>T (p.Ala272Ser)
c.301G>T (p.Ala101Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587636_2587637delinsGCCA1948233352KCNQ1c.838_839delinsGC (p.Ala280=)
c.655_656delinsGC (p.Ala219=)
c.1195_1196delinsGC (p.Ala399=)
c.814_815delinsGC (p.Ala272=)
c.301_302delinsGC (p.Ala101=)
11g.2587637C>ACA379134772KCNQ1c.839C>A (p.Ala280Asp)
c.656C>A (p.Ala219Asp)
c.1196C>A (p.Ala399Asp)
c.815C>A (p.Ala272Asp)
c.302C>A (p.Ala101Asp)
 gnomAD v4 COSMIC
11g.2587637C=CA1948233378KCNQ1c.839C= (p.Ala280=)
c.656C= (p.Ala219=)
c.1196C= (p.Ala399=)
c.815C= (p.Ala272=)
c.302C= (p.Ala101=)
11g.2587637C>GCA10576879KCNQ1c.839C>G (p.Ala280Gly)
c.656C>G (p.Ala219Gly)
c.1196C>G (p.Ala399Gly)
c.815C>G (p.Ala272Gly)
c.302C>G (p.Ala101Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587637C>TCA379134773KCNQ1c.839C>T (p.Ala280Val)
c.656C>T (p.Ala219Val)
c.1196C>T (p.Ala399Val)
c.815C>T (p.Ala272Val)
c.302C>T (p.Ala101Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587637_2587638delinsACA658761339KCNQ1c.839_840delinsA (p.Ala280AspfsTer20)
c.656_657delinsA (p.Ala219AspfsTer20)
c.1196_1197delinsA (p.Ala399AspfsTer20)
c.815_816delinsA (p.Ala272AspfsTer20)
c.302_303delinsA (p.Ala101AspfsTer20)
11g.2587642dupCA005505KCNQ1c.844dup (p.Arg282ProfsTer?)
c.661dup (p.Arg221ProfsTer?)
c.1201dup (p.Arg401ProfsTer?)
c.820dup (p.Arg274ProfsTer?)
c.307dup (p.Arg103ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587642delCA5822080KCNQ1c.844del (p.Arg282GlyfsTer18)
c.661del (p.Arg221GlyfsTer18)
c.1201del (p.Arg401GlyfsTer18)
c.820del (p.Arg274GlyfsTer18)
c.307del (p.Arg103GlyfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.2587638C>ACA027736KCNQ1c.840C>A (p.Ala280=)
c.657C>A (p.Ala219=)
c.1197C>A (p.Ala399=)
c.816C>A (p.Ala272=)
c.303C>A (p.Ala101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587638C=CA1948233395KCNQ1c.840C= (p.Ala280=)
c.657C= (p.Ala219=)
c.1197C= (p.Ala399=)
c.816C= (p.Ala272=)
c.303C= (p.Ala101=)
11g.2587638C>GCA027750KCNQ1c.840C>G (p.Ala280=)
c.657C>G (p.Ala219=)
c.1197C>G (p.Ala399=)
c.816C>G (p.Ala272=)
c.303C>G (p.Ala101=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587638C>TCA472039163KCNQ1c.840C>T (p.Ala280=)
c.657C>T (p.Ala219=)
c.1197C>T (p.Ala399=)
c.816C>T (p.Ala272=)
c.303C>T (p.Ala101=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2587639C>ACA379134776KCNQ1c.841C>A (p.Pro281Thr)
c.658C>A (p.Pro220Thr)
c.1198C>A (p.Pro400Thr)
c.817C>A (p.Pro273Thr)
c.304C>A (p.Pro102Thr)
 gnomAD v4
11g.2587639C=CA1948233417KCNQ1c.841C= (p.Pro281=)
c.658C= (p.Pro220=)
c.1198C= (p.Pro400=)
c.817C= (p.Pro273=)
c.304C= (p.Pro102=)
11g.2587639C>GCA379134775KCNQ1c.841C>G (p.Pro281Ala)
c.658C>G (p.Pro220Ala)
c.1198C>G (p.Pro400Ala)
c.817C>G (p.Pro273Ala)
c.304C>G (p.Pro102Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2587639C>TCA379134774KCNQ1c.841C>T (p.Pro281Ser)
c.658C>T (p.Pro220Ser)
c.1198C>T (p.Pro400Ser)
c.817C>T (p.Pro273Ser)
c.304C>T (p.Pro102Ser)
11g.2587640C>ACA379134777KCNQ1c.842C>A (p.Pro281His)
c.659C>A (p.Pro220His)
c.1199C>A (p.Pro400His)
c.818C>A (p.Pro273His)
c.305C>A (p.Pro102His)
 dbSNP
11g.2587640C>GCA379134779KCNQ1c.842C>G (p.Pro281Arg)
c.659C>G (p.Pro220Arg)
c.1199C>G (p.Pro400Arg)
c.818C>G (p.Pro273Arg)
c.305C>G (p.Pro102Arg)
11g.2587640C>TCA379134778KCNQ1c.842C>T (p.Pro281Leu)
c.659C>T (p.Pro220Leu)
c.1199C>T (p.Pro400Leu)
c.818C>T (p.Pro273Leu)
c.305C>T (p.Pro102Leu)
11g.2587641C>ACA472039171KCNQ1c.843C>A (p.Pro281=)
c.660C>A (p.Pro220=)
c.1200C>A (p.Pro400=)
c.819C>A (p.Pro273=)
c.306C>A (p.Pro102=)
11g.2587641C=CA1948233424KCNQ1c.843C= (p.Pro281=)
c.660C= (p.Pro220=)
c.1200C= (p.Pro400=)
c.819C= (p.Pro273=)
c.306C= (p.Pro102=)
11g.2587641C>GCA472039168KCNQ1c.843C>G (p.Pro281=)
c.660C>G (p.Pro220=)
c.1200C>G (p.Pro400=)
c.819C>G (p.Pro273=)
c.306C>G (p.Pro102=)
11g.2587641C>TCA472039170KCNQ1c.843C>T (p.Pro281=)
c.660C>T (p.Pro220=)
c.1200C>T (p.Pro400=)
c.819C>T (p.Pro273=)
c.306C>T (p.Pro102=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2587642C>ACA472039173KCNQ1c.844C>A (p.Arg282=)
c.661C>A (p.Arg221=)
c.1201C>A (p.Arg401=)
c.820C>A (p.Arg274=)
c.307C>A (p.Arg103=)
11g.2587642C=CA1948233428KCNQ1c.844C= (p.Arg282=)
c.661C= (p.Arg221=)
c.1201C= (p.Arg401=)
c.820C= (p.Arg274=)
c.307C= (p.Arg103=)
11g.2587642C>GCA379134780KCNQ1c.844C>G (p.Arg282Gly)
c.661C>G (p.Arg221Gly)
c.1201C>G (p.Arg401Gly)
c.820C>G (p.Arg274Gly)
c.307C>G (p.Arg103Gly)
11g.2587642C>TCA005511KCNQ1c.844C>T (p.Arg282Trp)
c.661C>T (p.Arg221Trp)
c.1201C>T (p.Arg401Trp)
c.820C>T (p.Arg274Trp)
c.307C>T (p.Arg103Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587643G>ACA027778KCNQ1c.845G>A (p.Arg282Gln)
c.662G>A (p.Arg221Gln)
c.1202G>A (p.Arg401Gln)
c.821G>A (p.Arg274Gln)
c.308G>A (p.Arg103Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2587643G>CCA379134781KCNQ1c.845G>C (p.Arg282Pro)
c.662G>C (p.Arg221Pro)
c.1202G>C (p.Arg401Pro)
c.821G>C (p.Arg274Pro)
c.308G>C (p.Arg103Pro)
 ClinVar
11g.2587643G=CA1948233436KCNQ1c.845G= (p.Arg282=)
c.662G= (p.Arg221=)
c.1202G= (p.Arg401=)
c.821G= (p.Arg274=)
c.308G= (p.Arg103=)
11g.2587643G>TCA379134782KCNQ1c.845G>T (p.Arg282Leu)
c.662G>T (p.Arg221Leu)
c.1202G>T (p.Arg401Leu)
c.821G>T (p.Arg274Leu)
c.308G>T (p.Arg103Leu)
 COSMIC
11g.2587644G>ACA472039177KCNQ1c.846G>A (p.Arg282=)
c.663G>A (p.Arg221=)
c.1203G>A (p.Arg401=)
c.822G>A (p.Arg274=)
c.309G>A (p.Arg103=)
 gnomAD v4
11g.2587644G>CCA472039179KCNQ1c.846G>C (p.Arg282=)
c.663G>C (p.Arg221=)
c.1203G>C (p.Arg401=)
c.822G>C (p.Arg274=)
c.309G>C (p.Arg103=)
 gnomAD v3 gnomAD v4
11g.2587644G>TCA472039181KCNQ1c.846G>T (p.Arg282=)
c.663G>T (p.Arg221=)
c.1203G>T (p.Arg401=)
c.822G>T (p.Arg274=)
c.309G>T (p.Arg103=)
11g.2587645A=CA1948233441KCNQ1c.847A= (p.Ser283=)
c.664A= (p.Ser222=)
c.1204A= (p.Ser402=)
c.823A= (p.Ser275=)
c.310A= (p.Ser104=)
11g.2587645A>CCA379134783KCNQ1c.847A>C (p.Ser283Arg)
c.664A>C (p.Ser222Arg)
c.1204A>C (p.Ser402Arg)
c.823A>C (p.Ser275Arg)
c.310A>C (p.Ser104Arg)
11g.2587645A>GCA379134784KCNQ1c.847A>G (p.Ser283Gly)
c.664A>G (p.Ser222Gly)
c.1204A>G (p.Ser402Gly)
c.823A>G (p.Ser275Gly)
c.310A>G (p.Ser104Gly)
 dbSNP
11g.2587645A>TCA379134785KCNQ1c.847A>T (p.Ser283Cys)
c.664A>T (p.Ser222Cys)
c.1204A>T (p.Ser402Cys)
c.823A>T (p.Ser275Cys)
c.310A>T (p.Ser104Cys)
11g.2587646G>ACA10582884KCNQ1c.848G>A (p.Ser283Asn)
c.665G>A (p.Ser222Asn)
c.1205G>A (p.Ser402Asn)
c.824G>A (p.Ser275Asn)
c.311G>A (p.Ser104Asn)
 ClinVar dbSNP gnomAD v4
11g.2587646G>CCA379134786KCNQ1c.848G>C (p.Ser283Thr)
c.665G>C (p.Ser222Thr)
c.1205G>C (p.Ser402Thr)
c.824G>C (p.Ser275Thr)
c.311G>C (p.Ser104Thr)
11g.2587646G=CA1948233452KCNQ1c.848G= (p.Ser283=)
c.665G= (p.Ser222=)
c.1205G= (p.Ser402=)
c.824G= (p.Ser275=)
c.311G= (p.Ser104=)
11g.2587646G>TCA379134787KCNQ1c.848G>T (p.Ser283Ile)
c.665G>T (p.Ser222Ile)
c.1205G>T (p.Ser402Ile)
c.824G>T (p.Ser275Ile)
c.311G>T (p.Ser104Ile)
11g.2587646_2587647delinsGCCA1948233445KCNQ1c.848_849delinsGC (p.Ser283=)
c.665_666delinsGC (p.Ser222=)
c.1205_1206delinsGC (p.Ser402=)
c.824_825delinsGC (p.Ser275=)
c.311_312delinsGC (p.Ser104=)
11g.2587647C>ACA379134788KCNQ1c.849C>A (p.Ser283Arg)
c.666C>A (p.Ser222Arg)
c.1206C>A (p.Ser402Arg)
c.825C>A (p.Ser275Arg)
c.312C>A (p.Ser104Arg)
11g.2587647C=CA1948233463KCNQ1c.849C= (p.Ser283=)
c.666C= (p.Ser222=)
c.1206C= (p.Ser402=)
c.825C= (p.Ser275=)
c.312C= (p.Ser104=)
11g.2587647C>GCA379134789KCNQ1c.849C>G (p.Ser283Arg)
c.666C>G (p.Ser222Arg)
c.1206C>G (p.Ser402Arg)
c.825C>G (p.Ser275Arg)
c.312C>G (p.Ser104Arg)
11g.2587647C>TCA472039187KCNQ1c.849C>T (p.Ser283=)
c.666C>T (p.Ser222=)
c.1206C>T (p.Ser402=)
c.825C>T (p.Ser275=)
c.312C>T (p.Ser104=)
 dbSNP
11g.2587648delCA1139661777KCNQ1c.850del (p.His284ThrfsTer16)
c.667del (p.His223ThrfsTer16)
c.1207del (p.His403ThrfsTer16)
c.826del (p.His276ThrfsTer16)
c.313del (p.His105ThrfsTer16)
 ClinVar dbSNP
11g.2587648C>ACA379134790KCNQ1c.850C>A (p.His284Asn)
c.667C>A (p.His223Asn)
c.1207C>A (p.His403Asn)
c.826C>A (p.His276Asn)
c.313C>A (p.His105Asn)
11g.2587648C>GCA379134791KCNQ1c.850C>G (p.His284Asp)
c.667C>G (p.His223Asp)
c.1207C>G (p.His403Asp)
c.826C>G (p.His276Asp)
c.313C>G (p.His105Asp)
11g.2587648C>TCA379134792KCNQ1c.850C>T (p.His284Tyr)
c.667C>T (p.His223Tyr)
c.1207C>T (p.His403Tyr)
c.826C>T (p.His276Tyr)
c.313C>T (p.His105Tyr)
11g.2587651_2587663delCA2573146069KCNQ1c.853_865del (p.Thr285ProfsTer11)
c.670_682del (p.Thr224ProfsTer11)
c.1210_1222del (p.Thr404ProfsTer11)
c.829_841del (p.Thr277ProfsTer11)
c.316_328del (p.Thr106ProfsTer11)
 ClinVar dbSNP
11g.2587649A>CCA379134793KCNQ1c.851A>C (p.His284Pro)
c.668A>C (p.His223Pro)
c.1208A>C (p.His403Pro)
c.827A>C (p.His276Pro)
c.314A>C (p.His105Pro)
11g.2587649A>GCA379134795KCNQ1c.851A>G (p.His284Arg)
c.668A>G (p.His223Arg)
c.1208A>G (p.His403Arg)
c.827A>G (p.His276Arg)
c.314A>G (p.His105Arg)
11g.2587649A>TCA379134794KCNQ1c.851A>T (p.His284Leu)
c.668A>T (p.His223Leu)
c.1208A>T (p.His403Leu)
c.827A>T (p.His276Leu)
c.314A>T (p.His105Leu)
11g.2587650C>ACA379134796KCNQ1c.852C>A (p.His284Gln)
c.669C>A (p.His223Gln)
c.1209C>A (p.His403Gln)
c.828C>A (p.His276Gln)
c.315C>A (p.His105Gln)
11g.2587650C=CA1948233472KCNQ1c.852C= (p.His284=)
c.669C= (p.His223=)
c.1209C= (p.His403=)
c.828C= (p.His276=)
c.315C= (p.His105=)
11g.2587650C>GCA379134797KCNQ1c.852C>G (p.His284Gln)
c.669C>G (p.His223Gln)
c.1209C>G (p.His403Gln)
c.828C>G (p.His276Gln)
c.315C>G (p.His105Gln)
 gnomAD v4
11g.2587650C>TCA027792KCNQ1c.852C>T (p.His284=)
c.669C>T (p.His223=)
c.1209C>T (p.His403=)
c.828C>T (p.His276=)
c.315C>T (p.His105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2587651A>CCA379134798KCNQ1c.853A>C (p.Thr285Pro)
c.670A>C (p.Thr224Pro)
c.1210A>C (p.Thr404Pro)
c.829A>C (p.Thr277Pro)
c.316A>C (p.Thr106Pro)
11g.2587651A>GCA379134799KCNQ1c.853A>G (p.Thr285Ala)
c.670A>G (p.Thr224Ala)
c.1210A>G (p.Thr404Ala)
c.829A>G (p.Thr277Ala)
c.316A>G (p.Thr106Ala)
11g.2587651A>TCA379134800KCNQ1c.853A>T (p.Thr285Ser)
c.670A>T (p.Thr224Ser)
c.1210A>T (p.Thr404Ser)
c.829A>T (p.Thr277Ser)
c.316A>T (p.Thr106Ser)
11g.2587652C>ACA379134801KCNQ1c.854C>A (p.Thr285Asn)
c.671C>A (p.Thr224Asn)
c.1211C>A (p.Thr404Asn)
c.830C>A (p.Thr277Asn)
c.317C>A (p.Thr106Asn)
 gnomAD v4
11g.2587652C=CA1948233476KCNQ1c.854C= (p.Thr285=)
c.671C= (p.Thr224=)
c.1211C= (p.Thr404=)
c.830C= (p.Thr277=)
c.317C= (p.Thr106=)
11g.2587652C>GCA379134802KCNQ1c.854C>G (p.Thr285Ser)
c.671C>G (p.Thr224Ser)
c.1211C>G (p.Thr404Ser)
c.830C>G (p.Thr277Ser)
c.317C>G (p.Thr106Ser)
 ClinVar dbSNP gnomAD v4
11g.2587652C>TCA379134803KCNQ1c.854C>T (p.Thr285Ile)
c.671C>T (p.Thr224Ile)
c.1211C>T (p.Thr404Ile)
c.830C>T (p.Thr277Ile)
c.317C>T (p.Thr106Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2587653T>ACA472039195KCNQ1c.855T>A (p.Thr285=)
c.672T>A (p.Thr224=)
c.1212T>A (p.Thr404=)
c.831T>A (p.Thr277=)
c.318T>A (p.Thr106=)
 dbSNP gnomAD v4
11g.2587653T>CCA472039197KCNQ1c.855T>C (p.Thr285=)
c.672T>C (p.Thr224=)
c.1212T>C (p.Thr404=)
c.831T>C (p.Thr277=)
c.318T>C (p.Thr106=)
11g.2587653T>GCA472039198KCNQ1c.855T>G (p.Thr285=)
c.672T>G (p.Thr224=)
c.1212T>G (p.Thr404=)
c.831T>G (p.Thr277=)
c.318T>G (p.Thr106=)
11g.2587653T=CA1948233482KCNQ1c.855T= (p.Thr285=)
c.672T= (p.Thr224=)
c.1212T= (p.Thr404=)
c.831T= (p.Thr277=)
c.318T= (p.Thr106=)
11g.2587654C>ACA379134804KCNQ1c.856C>A (p.Leu286Met)
c.673C>A (p.Leu225Met)
c.1213C>A (p.Leu405Met)
c.832C>A (p.Leu278Met)
c.319C>A (p.Leu107Met)
11g.2587654C=CA1948233489KCNQ1c.856C= (p.Leu286=)
c.673C= (p.Leu225=)
c.1213C= (p.Leu405=)
c.832C= (p.Leu278=)
c.319C= (p.Leu107=)
11g.2587654C>GCA379134805KCNQ1c.856C>G (p.Leu286Val)
c.673C>G (p.Leu225Val)
c.1213C>G (p.Leu405Val)
c.832C>G (p.Leu278Val)
c.319C>G (p.Leu107Val)
 gnomAD v4
11g.2587654C>TCA472039200KCNQ1c.856C>T (p.Leu286=)
c.673C>T (p.Leu225=)
c.1213C>T (p.Leu405=)
c.832C>T (p.Leu278=)
c.319C>T (p.Leu107=)
 ClinVar dbSNP
11g.2587654_2587656delinsCTGCA1948233488KCNQ1c.856_858delinsCTG (p.Leu286=)
c.673_675delinsCTG (p.Leu225=)
c.1213_1215delinsCTG (p.Leu405=)
c.832_834delinsCTG (p.Leu278=)
c.319_321delinsCTG (p.Leu107=)
11g.2587655T>ACA379134806KCNQ1c.857T>A (p.Leu286Gln)
c.674T>A (p.Leu225Gln)
c.1214T>A (p.Leu405Gln)
c.833T>A (p.Leu278Gln)
c.320T>A (p.Leu107Gln)
11g.2587655T>CCA379134808KCNQ1c.857T>C (p.Leu286Pro)
c.674T>C (p.Leu225Pro)
c.1214T>C (p.Leu405Pro)
c.833T>C (p.Leu278Pro)
c.320T>C (p.Leu107Pro)
11g.2587655T>GCA379134807KCNQ1c.857T>G (p.Leu286Arg)
c.674T>G (p.Leu225Arg)
c.1214T>G (p.Leu405Arg)
c.833T>G (p.Leu278Arg)
c.320T>G (p.Leu107Arg)
11g.2587655_2587656delCA1139661778KCNQ1c.857_858del (p.Leu286ProfsTer?)
c.674_675del (p.Leu225ProfsTer?)
c.1214_1215del (p.Leu405ProfsTer?)
c.833_834del (p.Leu278ProfsTer?)
c.320_321del (p.Leu107ProfsTer?)
 ClinVar dbSNP
11g.2587656G>ACA472039204KCNQ1c.858G>A (p.Leu286=)
c.675G>A (p.Leu225=)
c.1215G>A (p.Leu405=)
c.834G>A (p.Leu278=)
c.321G>A (p.Leu107=)
11g.2587656G>CCA472039206KCNQ1c.858G>C (p.Leu286=)
c.675G>C (p.Leu225=)
c.1215G>C (p.Leu405=)
c.834G>C (p.Leu278=)
c.321G>C (p.Leu107=)
11g.2587656G>TCA472039207KCNQ1c.858G>T (p.Leu286=)
c.675G>T (p.Leu225=)
c.1215G>T (p.Leu405=)
c.834G>T (p.Leu278=)
c.321G>T (p.Leu107=)
11g.2587657C>ACA379134809KCNQ1c.859C>A (p.Leu287Met)
c.676C>A (p.Leu226Met)
c.1216C>A (p.Leu406Met)
c.835C>A (p.Leu279Met)
c.322C>A (p.Leu108Met)
11g.2587657C=CA1948233500KCNQ1c.859C= (p.Leu287=)
c.676C= (p.Leu226=)
c.1216C= (p.Leu406=)
c.835C= (p.Leu279=)
c.322C= (p.Leu108=)
11g.2587657C>GCA379134810KCNQ1c.859C>G (p.Leu287Val)
c.676C>G (p.Leu226Val)
c.1216C>G (p.Leu406Val)
c.835C>G (p.Leu279Val)
c.322C>G (p.Leu108Val)
11g.2587657C>TCA027802KCNQ1c.859C>T (p.Leu287=)
c.676C>T (p.Leu226=)
c.1216C>T (p.Leu406=)
c.835C>T (p.Leu279=)
c.322C>T (p.Leu108=)
 dbSNP ExAC gnomAD v2
11g.2587658T>ACA379134811KCNQ1c.860T>A (p.Leu287Gln)
c.677T>A (p.Leu226Gln)
c.1217T>A (p.Leu406Gln)
c.836T>A (p.Leu279Gln)
c.323T>A (p.Leu108Gln)
11g.2587658T>CCA379134812KCNQ1c.860T>C (p.Leu287Pro)
c.677T>C (p.Leu226Pro)
c.1217T>C (p.Leu406Pro)
c.836T>C (p.Leu279Pro)
c.323T>C (p.Leu108Pro)
11g.2587658T>GCA379134813KCNQ1c.860T>G (p.Leu287Arg)
c.677T>G (p.Leu226Arg)
c.1217T>G (p.Leu406Arg)
c.836T>G (p.Leu279Arg)
c.323T>G (p.Leu108Arg)
11g.2587659G>ACA216332987KCNQ1c.861G>A (p.Leu287=)
c.678G>A (p.Leu226=)
c.1218G>A (p.Leu406=)
c.837G>A (p.Leu279=)
c.324G>A (p.Leu108=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2587659G>CCA472039213KCNQ1c.861G>C (p.Leu287=)
c.678G>C (p.Leu226=)
c.1218G>C (p.Leu406=)
c.837G>C (p.Leu279=)
c.324G>C (p.Leu108=)
11g.2587659G=CA1948233507KCNQ1c.861G= (p.Leu287=)
c.678G= (p.Leu226=)
c.1218G= (p.Leu406=)
c.837G= (p.Leu279=)
c.324G= (p.Leu108=)
11g.2587659G>TCA472039214KCNQ1c.861G>T (p.Leu287=)
c.678G>T (p.Leu226=)
c.1218G>T (p.Leu406=)
c.837G>T (p.Leu279=)
c.324G>T (p.Leu108=)
11g.2587660T>ACA379134814KCNQ1c.862T>A (p.Ser288Thr)
c.679T>A (p.Ser227Thr)
c.1219T>A (p.Ser407Thr)
c.838T>A (p.Ser280Thr)
c.325T>A (p.Ser109Thr)
11g.2587660T>CCA379134815KCNQ1c.862T>C (p.Ser288Pro)
c.679T>C (p.Ser227Pro)
c.1219T>C (p.Ser407Pro)
c.838T>C (p.Ser280Pro)
c.325T>C (p.Ser109Pro)
11g.2587660T>GCA379134816KCNQ1c.862T>G (p.Ser288Ala)
c.679T>G (p.Ser227Ala)
c.1219T>G (p.Ser407Ala)
c.838T>G (p.Ser280Ala)
c.325T>G (p.Ser109Ala)
11g.2587660_2587661insGCA2580615604KCNQ1c.862_863insG (p.Ser288CysfsTer?)
c.679_680insG (p.Ser227CysfsTer?)
c.1219_1220insG (p.Ser407CysfsTer?)
c.838_839insG (p.Ser280CysfsTer?)
c.325_326insG (p.Ser109CysfsTer?)
 ClinVar
11g.2587661C>ACA379134817KCNQ1c.863C>A (p.Ser288Ter)
c.680C>A (p.Ser227Ter)
c.1220C>A (p.Ser407Ter)
c.839C>A (p.Ser280Ter)
c.326C>A (p.Ser109Ter)
11g.2587661C>GCA379134818KCNQ1c.863C>G (p.Ser288Ter)
c.680C>G (p.Ser227Ter)
c.1220C>G (p.Ser407Ter)
c.839C>G (p.Ser280Ter)
c.326C>G (p.Ser109Ter)
11g.2587661C>TCA379134819KCNQ1c.863C>T (p.Ser288Leu)
c.680C>T (p.Ser227Leu)
c.1220C>T (p.Ser407Leu)
c.839C>T (p.Ser280Leu)
c.326C>T (p.Ser109Leu)
 ClinVar
11g.2587662A=CA1948233510KCNQ1c.864A= (p.Ser288=)
c.681A= (p.Ser227=)
c.1221A= (p.Ser407=)
c.840A= (p.Ser280=)
c.327A= (p.Ser109=)
11g.2587662A>CCA472039220KCNQ1c.864A>C (p.Ser288=)
c.681A>C (p.Ser227=)
c.1221A>C (p.Ser407=)
c.840A>C (p.Ser280=)
c.327A>C (p.Ser109=)
 dbSNP
11g.2587662A>GCA472039223KCNQ1c.864A>G (p.Ser288=)
c.681A>G (p.Ser227=)
c.1221A>G (p.Ser407=)
c.840A>G (p.Ser280=)
c.327A>G (p.Ser109=)
 ClinVar dbSNP gnomAD v4
11g.2587662A>TCA472039221KCNQ1c.864A>T (p.Ser288=)
c.681A>T (p.Ser227=)
c.1221A>T (p.Ser407=)
c.840A>T (p.Ser280=)
c.327A>T (p.Ser109=)
11g.2587663C>ACA379134821KCNQ1c.865C>A (p.Pro289Thr)
c.682C>A (p.Pro228Thr)
c.1222C>A (p.Pro408Thr)
c.841C>A (p.Pro281Thr)
c.328C>A (p.Pro110Thr)
11g.2587663C=CA1948233517KCNQ1c.865C= (p.Pro289=)
c.682C= (p.Pro228=)
c.1222C= (p.Pro408=)
c.841C= (p.Pro281=)
c.328C= (p.Pro110=)
11g.2587663C>GCA005521KCNQ1c.865C>G (p.Pro289Ala)
c.682C>G (p.Pro228Ala)
c.1222C>G (p.Pro408Ala)
c.841C>G (p.Pro281Ala)
c.328C>G (p.Pro110Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587663C>TCA379134820KCNQ1c.865C>T (p.Pro289Ser)
c.682C>T (p.Pro228Ser)
c.1222C>T (p.Pro408Ser)
c.841C>T (p.Pro281Ser)
c.328C>T (p.Pro110Ser)
11g.2587664C>ACA379134822KCNQ1c.866C>A (p.Pro289His)
c.683C>A (p.Pro228His)
c.1223C>A (p.Pro408His)
c.842C>A (p.Pro281His)
c.329C>A (p.Pro110His)
11g.2587664C=CA1948233523KCNQ1c.866C= (p.Pro289=)
c.683C= (p.Pro228=)
c.1223C= (p.Pro408=)
c.842C= (p.Pro281=)
c.329C= (p.Pro110=)
11g.2587664C>GCA216333028KCNQ1c.866C>G (p.Pro289Arg)
c.683C>G (p.Pro228Arg)
c.1223C>G (p.Pro408Arg)
c.842C>G (p.Pro281Arg)
c.329C>G (p.Pro110Arg)
 ClinVar dbSNP gnomAD v4
11g.2587664C>TCA379134823KCNQ1c.866C>T (p.Pro289Leu)
c.683C>T (p.Pro228Leu)
c.1223C>T (p.Pro408Leu)
c.842C>T (p.Pro281Leu)
c.329C>T (p.Pro110Leu)
11g.2587665C>ACA472039231KCNQ1c.867C>A (p.Pro289=)
c.684C>A (p.Pro228=)
c.1224C>A (p.Pro408=)
c.843C>A (p.Pro281=)
c.330C>A (p.Pro110=)
11g.2587665C=CA1948233532KCNQ1c.867C= (p.Pro289=)
c.684C= (p.Pro228=)
c.1224C= (p.Pro408=)
c.843C= (p.Pro281=)
c.330C= (p.Pro110=)
11g.2587665C>GCA472039227KCNQ1c.867C>G (p.Pro289=)
c.684C>G (p.Pro228=)
c.1224C>G (p.Pro408=)
c.843C>G (p.Pro281=)
c.330C>G (p.Pro110=)
11g.2587665C>TCA472039229KCNQ1c.867C>T (p.Pro289=)
c.684C>T (p.Pro228=)
c.1224C>T (p.Pro408=)
c.843C>T (p.Pro281=)
c.330C>T (p.Pro110=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2587666delCA2580082622KCNQ1c.868del (p.Ser290AlafsTer10)
c.685del (p.Ser229AlafsTer10)
c.1225del (p.Ser409AlafsTer10)
c.844del (p.Ser282AlafsTer10)
c.331del (p.Ser111AlafsTer10)
 ClinVar
11g.2587666A>CCA379134824KCNQ1c.868A>C (p.Ser290Arg)
c.685A>C (p.Ser229Arg)
c.1225A>C (p.Ser409Arg)
c.844A>C (p.Ser282Arg)
c.331A>C (p.Ser111Arg)
11g.2587666A>GCA379134825KCNQ1c.868A>G (p.Ser290Gly)
c.685A>G (p.Ser229Gly)
c.1225A>G (p.Ser409Gly)
c.844A>G (p.Ser282Gly)
c.331A>G (p.Ser111Gly)
 gnomAD v4 COSMIC COSMIC
11g.2587666A>TCA379134826KCNQ1c.868A>T (p.Ser290Cys)
c.685A>T (p.Ser229Cys)
c.1225A>T (p.Ser409Cys)
c.844A>T (p.Ser282Cys)
c.331A>T (p.Ser111Cys)
11g.2587667G>ACA379134827KCNQ1c.869G>A (p.Ser290Asn)
c.686G>A (p.Ser229Asn)
c.1226G>A (p.Ser409Asn)
c.845G>A (p.Ser282Asn)
c.332G>A (p.Ser111Asn)
11g.2587667G>CCA379134828KCNQ1c.869G>C (p.Ser290Thr)
c.686G>C (p.Ser229Thr)
c.1226G>C (p.Ser409Thr)
c.845G>C (p.Ser282Thr)
c.332G>C (p.Ser111Thr)
11g.2587667G>TCA379134829KCNQ1c.869G>T (p.Ser290Ile)
c.686G>T (p.Ser229Ile)
c.1226G>T (p.Ser409Ile)
c.845G>T (p.Ser282Ile)
c.332G>T (p.Ser111Ile)
11g.2587668C>ACA379134830KCNQ1c.870C>A (p.Ser290Arg)
c.687C>A (p.Ser229Arg)
c.1227C>A (p.Ser409Arg)
c.846C>A (p.Ser282Arg)
c.333C>A (p.Ser111Arg)
11g.2587668C=CA1948233539KCNQ1c.870C= (p.Ser290=)
c.687C= (p.Ser229=)
c.1227C= (p.Ser409=)
c.846C= (p.Ser282=)
c.333C= (p.Ser111=)
11g.2587668C>GCA379134831KCNQ1c.870C>G (p.Ser290Arg)
c.687C>G (p.Ser229Arg)
c.1227C>G (p.Ser409Arg)
c.846C>G (p.Ser282Arg)
c.333C>G (p.Ser111Arg)
 gnomAD v4
11g.2587668C>TCA472039237KCNQ1c.870C>T (p.Ser290=)
c.687C>T (p.Ser229=)
c.1227C>T (p.Ser409=)
c.846C>T (p.Ser282=)
c.333C>T (p.Ser111=)
 dbSNP
11g.2587669C>ACA379134833KCNQ1c.871C>A (p.Pro291Thr)
c.688C>A (p.Pro230Thr)
c.1228C>A (p.Pro410Thr)
c.847C>A (p.Pro283Thr)
c.334C>A (p.Pro112Thr)
 gnomAD v4
11g.2587669C>GCA379134834KCNQ1c.871C>G (p.Pro291Ala)
c.688C>G (p.Pro230Ala)
c.1228C>G (p.Pro410Ala)
c.847C>G (p.Pro283Ala)
c.334C>G (p.Pro112Ala)
11g.2587669C>TCA379134832KCNQ1c.871C>T (p.Pro291Ser)
c.688C>T (p.Pro230Ser)
c.1228C>T (p.Pro410Ser)
c.847C>T (p.Pro283Ser)
c.334C>T (p.Pro112Ser)
11g.2587670C>ACA379134837KCNQ1c.872C>A (p.Pro291His)
c.689C>A (p.Pro230His)
c.1229C>A (p.Pro410His)
c.848C>A (p.Pro283His)
c.335C>A (p.Pro112His)
11g.2587670C>GCA379134835KCNQ1c.872C>G (p.Pro291Arg)
c.689C>G (p.Pro230Arg)
c.1229C>G (p.Pro410Arg)
c.848C>G (p.Pro283Arg)
c.335C>G (p.Pro112Arg)
11g.2587670C>TCA379134836KCNQ1c.872C>T (p.Pro291Leu)
c.689C>T (p.Pro230Leu)
c.1229C>T (p.Pro410Leu)
c.848C>T (p.Pro283Leu)
c.335C>T (p.Pro112Leu)
11g.2587671C>ACA472039241KCNQ1c.873C>A (p.Pro291=)
c.690C>A (p.Pro230=)
c.1230C>A (p.Pro410=)
c.849C>A (p.Pro283=)
c.336C>A (p.Pro112=)
11g.2587671C=CA1948233542KCNQ1c.873C= (p.Pro291=)
c.690C= (p.Pro230=)
c.1230C= (p.Pro410=)
c.849C= (p.Pro283=)
c.336C= (p.Pro112=)
11g.2587671C>GCA472039243KCNQ1c.873C>G (p.Pro291=)
c.690C>G (p.Pro230=)
c.1230C>G (p.Pro410=)
c.849C>G (p.Pro283=)
c.336C>G (p.Pro112=)
11g.2587671C>TCA472039244KCNQ1c.873C>T (p.Pro291=)
c.690C>T (p.Pro230=)
c.1230C>T (p.Pro410=)
c.849C>T (p.Pro283=)
c.336C>T (p.Pro112=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587671_2587672delinsCACA1948233543KCNQ1c.873_874delinsCA (p.Pro291=)
c.690_691delinsCA (p.Pro230=)
c.1230_1231delinsCA (p.Pro410=)
c.849_850delinsCA (p.Pro283=)
c.336_337delinsCA (p.Pro112=)
11g.2587672A>CCA379134838KCNQ1c.874A>C (p.Lys292Gln)
c.691A>C (p.Lys231Gln)
c.1231A>C (p.Lys411Gln)
c.850A>C (p.Lys284Gln)
c.337A>C (p.Lys113Gln)
11g.2587672A>GCA379134839KCNQ1c.874A>G (p.Lys292Glu)
c.691A>G (p.Lys231Glu)
c.1231A>G (p.Lys411Glu)
c.850A>G (p.Lys284Glu)
c.337A>G (p.Lys113Glu)
11g.2587672A>TCA379134840KCNQ1c.874A>T (p.Lys292Ter)
c.691A>T (p.Lys231Ter)
c.1231A>T (p.Lys411Ter)
c.850A>T (p.Lys284Ter)
c.337A>T (p.Lys113Ter)
11g.2587674delCA916079962KCNQ1c.876del (p.Lys292AsnfsTer8)
c.693del (p.Lys231AsnfsTer8)
c.1233del (p.Lys411AsnfsTer8)
c.852del (p.Lys284AsnfsTer8)
c.339del (p.Lys113AsnfsTer8)
 ClinVar dbSNP
11g.2587673A>CCA379134841KCNQ1c.875A>C (p.Lys292Thr)
c.692A>C (p.Lys231Thr)
c.1232A>C (p.Lys411Thr)
c.851A>C (p.Lys284Thr)
c.338A>C (p.Lys113Thr)
11g.2587673A>GCA379134842KCNQ1c.875A>G (p.Lys292Arg)
c.692A>G (p.Lys231Arg)
c.1232A>G (p.Lys411Arg)
c.851A>G (p.Lys284Arg)
c.338A>G (p.Lys113Arg)
11g.2587673A>TCA379134843KCNQ1c.875A>T (p.Lys292Ile)
c.692A>T (p.Lys231Ile)
c.1232A>T (p.Lys411Ile)
c.851A>T (p.Lys284Ile)
c.338A>T (p.Lys113Ile)
11g.2587674A=CA1948233547KCNQ1c.876A= (p.Lys292=)
c.693A= (p.Lys231=)
c.1233A= (p.Lys411=)
c.852A= (p.Lys284=)
c.339A= (p.Lys113=)
11g.2587674A>CCA379134844KCNQ1c.876A>C (p.Lys292Asn)
c.693A>C (p.Lys231Asn)
c.1233A>C (p.Lys411Asn)
c.852A>C (p.Lys284Asn)
c.339A>C (p.Lys113Asn)
 dbSNP
11g.2587674A>GCA472039249KCNQ1c.876A>G (p.Lys292=)
c.693A>G (p.Lys231=)
c.1233A>G (p.Lys411=)
c.852A>G (p.Lys284=)
c.339A>G (p.Lys113=)
 gnomAD v4
11g.2587674A>TCA379134845KCNQ1c.876A>T (p.Lys292Asn)
c.693A>T (p.Lys231Asn)
c.1233A>T (p.Lys411Asn)
c.852A>T (p.Lys284Asn)
c.339A>T (p.Lys113Asn)
11g.2587675_2587676insACACCA2790203537KCNQ1c.877_878insACAC (p.Pro293HisfsTer?)
c.694_695insACAC (p.Pro232HisfsTer?)
c.1234_1235insACAC (p.Pro412HisfsTer?)
c.853_854insACAC (p.Pro285HisfsTer?)
c.340_341insACAC (p.Pro114HisfsTer?)
11g.2587675C>ACA379134846KCNQ1c.877C>A (p.Pro293Thr)
c.694C>A (p.Pro232Thr)
c.1234C>A (p.Pro412Thr)
c.853C>A (p.Pro285Thr)
c.340C>A (p.Pro114Thr)
11g.2587675C=CA1948233550KCNQ1c.877C= (p.Pro293=)
c.694C= (p.Pro232=)
c.1234C= (p.Pro412=)
c.853C= (p.Pro285=)
c.340C= (p.Pro114=)
11g.2587675C>GCA379134847KCNQ1c.877C>G (p.Pro293Ala)
c.694C>G (p.Pro232Ala)
c.1234C>G (p.Pro412Ala)
c.853C>G (p.Pro285Ala)
c.340C>G (p.Pro114Ala)
11g.2587675C>TCA379134848KCNQ1c.877C>T (p.Pro293Ser)
c.694C>T (p.Pro232Ser)
c.1234C>T (p.Pro412Ser)
c.853C>T (p.Pro285Ser)
c.340C>T (p.Pro114Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.2587677delCA2612003603KCNQ1c.879del (p.Lys294ArgfsTer6)
c.696del (p.Lys233ArgfsTer6)
c.1236del (p.Lys413ArgfsTer6)
c.855del (p.Lys286ArgfsTer6)
c.342del (p.Lys115ArgfsTer6)
 gnomAD v4
11g.2587676C>ACA379134851KCNQ1c.878C>A (p.Pro293His)
c.695C>A (p.Pro232His)
c.1235C>A (p.Pro412His)
c.854C>A (p.Pro285His)
c.341C>A (p.Pro114His)
11g.2587676C>GCA379134849KCNQ1c.878C>G (p.Pro293Arg)
c.695C>G (p.Pro232Arg)
c.1235C>G (p.Pro412Arg)
c.854C>G (p.Pro285Arg)
c.341C>G (p.Pro114Arg)
 gnomAD v4
11g.2587676C>TCA379134850KCNQ1c.878C>T (p.Pro293Leu)
c.695C>T (p.Pro232Leu)
c.1235C>T (p.Pro412Leu)
c.854C>T (p.Pro285Leu)
c.341C>T (p.Pro114Leu)
11g.2587677C>ACA472039256KCNQ1c.879C>A (p.Pro293=)
c.696C>A (p.Pro232=)
c.1236C>A (p.Pro412=)
c.855C>A (p.Pro285=)
c.342C>A (p.Pro114=)
 dbSNP
11g.2587677C=CA1948233554KCNQ1c.879C= (p.Pro293=)
c.696C= (p.Pro232=)
c.1236C= (p.Pro412=)
c.855C= (p.Pro285=)
c.342C= (p.Pro114=)
11g.2587677C>GCA472039255KCNQ1c.879C>G (p.Pro293=)
c.696C>G (p.Pro232=)
c.1236C>G (p.Pro412=)
c.855C>G (p.Pro285=)
c.342C>G (p.Pro114=)
 ClinVar dbSNP
11g.2587677C>TCA16613522KCNQ1c.879C>T (p.Pro293=)
c.696C>T (p.Pro232=)
c.1236C>T (p.Pro412=)
c.855C>T (p.Pro285=)
c.342C>T (p.Pro114=)
 ClinVar dbSNP
11g.2587678A>CCA379134852KCNQ1c.880A>C (p.Lys294Gln)
c.697A>C (p.Lys233Gln)
c.1237A>C (p.Lys413Gln)
c.856A>C (p.Lys286Gln)
c.343A>C (p.Lys115Gln)
11g.2587678A>GCA379134853KCNQ1c.880A>G (p.Lys294Glu)
c.697A>G (p.Lys233Glu)
c.1237A>G (p.Lys413Glu)
c.856A>G (p.Lys286Glu)
c.343A>G (p.Lys115Glu)
11g.2587678A>TCA379134854KCNQ1c.880A>T (p.Lys294Ter)
c.697A>T (p.Lys233Ter)
c.1237A>T (p.Lys413Ter)
c.856A>T (p.Lys286Ter)
c.343A>T (p.Lys115Ter)
11g.2587679A=CA1948233568KCNQ1c.881A= (p.Lys294=)
c.698A= (p.Lys233=)
c.1238A= (p.Lys413=)
c.857A= (p.Lys286=)
c.344A= (p.Lys115=)
11g.2587679A>CCA379134855KCNQ1c.881A>C (p.Lys294Thr)
c.698A>C (p.Lys233Thr)
c.1238A>C (p.Lys413Thr)
c.857A>C (p.Lys286Thr)
c.344A>C (p.Lys115Thr)
11g.2587679A>GCA5822081KCNQ1c.881A>G (p.Lys294Arg)
c.698A>G (p.Lys233Arg)
c.1238A>G (p.Lys413Arg)
c.857A>G (p.Lys286Arg)
c.344A>G (p.Lys115Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587679A>TCA379134856KCNQ1c.881A>T (p.Lys294Met)
c.698A>T (p.Lys233Met)
c.1238A>T (p.Lys413Met)
c.857A>T (p.Lys286Met)
c.344A>T (p.Lys115Met)
11g.2587679_2587680insCACACA2790203538KCNQ1c.881_882insCACA (p.Lys294AsnfsTer?)
c.698_699insCACA (p.Lys233AsnfsTer?)
c.1238_1239insCACA (p.Lys413AsnfsTer?)
c.857_858insCACA (p.Lys286AsnfsTer?)
c.344_345insCACA (p.Lys115AsnfsTer?)
11g.2587679_2587680delinsAGCA1948233567KCNQ1c.881_882delinsAG (p.Lys294=)
c.698_699delinsAG (p.Lys233=)
c.1238_1239delinsAG (p.Lys413=)
c.857_858delinsAG (p.Lys286=)
c.344_345delinsAG (p.Lys115=)
11g.2587680delCA5822082KCNQ1c.882del (p.Lys295SerfsTer5)
c.699del (p.Lys234SerfsTer5)
c.1239del (p.Lys414SerfsTer5)
c.858del (p.Lys287SerfsTer5)
c.345del (p.Lys116SerfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587680G>ACA472039262KCNQ1c.882G>A (p.Lys294=)
c.699G>A (p.Lys233=)
c.1239G>A (p.Lys413=)
c.858G>A (p.Lys286=)
c.345G>A (p.Lys115=)
11g.2587680G>CCA379134857KCNQ1c.882G>C (p.Lys294Asn)
c.699G>C (p.Lys233Asn)
c.1239G>C (p.Lys413Asn)
c.858G>C (p.Lys286Asn)
c.345G>C (p.Lys115Asn)
11g.2587680G>TCA379134858KCNQ1c.882G>T (p.Lys294Asn)
c.699G>T (p.Lys233Asn)
c.1239G>T (p.Lys413Asn)
c.858G>T (p.Lys286Asn)
c.345G>T (p.Lys115Asn)
11g.2587681A>CCA379134859KCNQ1c.883A>C (p.Lys295Gln)
c.700A>C (p.Lys234Gln)
c.1240A>C (p.Lys414Gln)
c.859A>C (p.Lys287Gln)
c.346A>C (p.Lys116Gln)
11g.2587681A>GCA379134860KCNQ1c.883A>G (p.Lys295Glu)
c.700A>G (p.Lys234Glu)
c.1240A>G (p.Lys414Glu)
c.859A>G (p.Lys287Glu)
c.346A>G (p.Lys116Glu)
11g.2587681A>TCA379134861KCNQ1c.883A>T (p.Lys295Ter)
c.700A>T (p.Lys234Ter)
c.1240A>T (p.Lys414Ter)
c.859A>T (p.Lys287Ter)
c.346A>T (p.Lys116Ter)
 ClinVar
11g.2587682A>CCA379134864KCNQ1c.884A>C (p.Lys295Thr)
c.701A>C (p.Lys234Thr)
c.1241A>C (p.Lys414Thr)
c.860A>C (p.Lys287Thr)
c.347A>C (p.Lys116Thr)
11g.2587682A>GCA379134863KCNQ1c.884A>G (p.Lys295Arg)
c.701A>G (p.Lys234Arg)
c.1241A>G (p.Lys414Arg)
c.860A>G (p.Lys287Arg)
c.347A>G (p.Lys116Arg)
11g.2587682A>TCA379134862KCNQ1c.884A>T (p.Lys295Met)
c.701A>T (p.Lys234Met)
c.1241A>T (p.Lys414Met)
c.860A>T (p.Lys287Met)
c.347A>T (p.Lys116Met)
11g.2587683G>ACA472039269KCNQ1c.885G>A (p.Lys295=)
c.702G>A (p.Lys234=)
c.1242G>A (p.Lys414=)
c.861G>A (p.Lys287=)
c.348G>A (p.Lys116=)
11g.2587683G>CCA379134865KCNQ1c.885G>C (p.Lys295Asn)
c.702G>C (p.Lys234Asn)
c.1242G>C (p.Lys414Asn)
c.861G>C (p.Lys287Asn)
c.348G>C (p.Lys116Asn)
11g.2587683G>TCA379134866KCNQ1c.885G>T (p.Lys295Asn)
c.702G>T (p.Lys234Asn)
c.1242G>T (p.Lys414Asn)
c.861G>T (p.Lys287Asn)
c.348G>T (p.Lys116Asn)

Number of alleles fetched