Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2572908C>ACA16606921KCNQ1c.582C>A (p.Tyr194Ter)
c.478-10527C>A (n.478-10527C>A)
c.843C>A (p.Tyr281Ter)
c.462C>A (p.Tyr154Ter)
c.124-10527C>A (n.124-10527C>A)
 ClinVar dbSNP
11g.2572908C=CA1948243208KCNQ1c.582C= (p.Tyr194=)
c.478-10527C= (n.478-10527C=)
c.843C= (p.Tyr281=)
c.462C= (p.Tyr154=)
c.124-10527C= (n.124-10527C=)
11g.2572908C>GCA379131492KCNQ1c.582C>G (p.Tyr194Ter)
c.478-10527C>G (n.478-10527C>G)
c.843C>G (p.Tyr281Ter)
c.462C>G (p.Tyr154Ter)
c.124-10527C>G (n.124-10527C>G)
11g.2572908C>TCA472038165KCNQ1c.582C>T (p.Tyr194=)
c.478-10527C>T (n.478-10527C>T)
c.843C>T (p.Tyr281=)
c.462C>T (p.Tyr154=)
c.124-10527C>T (n.124-10527C>T)
 ClinVar gnomAD v4
11g.2572909C>ACA379131494KCNQ1c.583C>A (p.Leu195Met)
c.478-10526C>A (n.478-10526C>A)
c.844C>A (p.Leu282Met)
c.463C>A (p.Leu155Met)
c.124-10526C>A (n.124-10526C>A)
11g.2572909C=CA1948243209KCNQ1c.583C= (p.Leu195=)
c.478-10526C= (n.478-10526C=)
c.844C= (p.Leu282=)
c.463C= (p.Leu155=)
c.124-10526C= (n.124-10526C=)
11g.2572909C>GCA216312678KCNQ1c.583C>G (p.Leu195Val)
c.478-10526C>G (n.478-10526C>G)
c.844C>G (p.Leu282Val)
c.463C>G (p.Leu155Val)
c.124-10526C>G (n.124-10526C>G)
 ClinVar dbSNP gnomAD v4
11g.2572909C>TCA472038166KCNQ1c.583C>T (p.Leu195=)
c.478-10526C>T (n.478-10526C>T)
c.844C>T (p.Leu282=)
c.463C>T (p.Leu155=)
c.124-10526C>T (n.124-10526C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572910T>ACA379131499KCNQ1c.584T>A (p.Leu195Gln)
c.478-10525T>A (n.478-10525T>A)
c.845T>A (p.Leu282Gln)
c.464T>A (p.Leu155Gln)
c.124-10525T>A (n.124-10525T>A)
11g.2572910T>CCA008471KCNQ1c.584T>C (p.Leu195Pro)
c.478-10525T>C (n.478-10525T>C)
c.845T>C (p.Leu282Pro)
c.464T>C (p.Leu155Pro)
c.124-10525T>C (n.124-10525T>C)
 ClinVar dbSNP
11g.2572910T>GCA379131501KCNQ1c.584T>G (p.Leu195Arg)
c.478-10525T>G (n.478-10525T>G)
c.845T>G (p.Leu282Arg)
c.464T>G (p.Leu155Arg)
c.124-10525T>G (n.124-10525T>G)
11g.2572910T=CA1948243210KCNQ1c.584T= (p.Leu195=)
c.478-10525T= (n.478-10525T=)
c.845T= (p.Leu282=)
c.464T= (p.Leu155=)
c.124-10525T= (n.124-10525T=)
11g.2572911G>ACA472038169KCNQ1c.585G>A (p.Leu195=)
c.478-10524G>A (n.478-10524G>A)
c.846G>A (p.Leu282=)
c.465G>A (p.Leu155=)
c.124-10524G>A (n.124-10524G>A)
11g.2572911G>CCA472038167KCNQ1c.585G>C (p.Leu195=)
c.478-10524G>C (n.478-10524G>C)
c.846G>C (p.Leu282=)
c.465G>C (p.Leu155=)
c.124-10524G>C (n.124-10524G>C)
11g.2572911G>TCA472038168KCNQ1c.585G>T (p.Leu195=)
c.478-10524G>T (n.478-10524G>T)
c.846G>T (p.Leu282=)
c.465G>T (p.Leu155=)
c.124-10524G>T (n.124-10524G>T)
11g.2572912G>ACA379131503KCNQ1c.586G>A (p.Ala196Thr)
c.478-10523G>A (n.478-10523G>A)
c.847G>A (p.Ala283Thr)
c.466G>A (p.Ala156Thr)
c.124-10523G>A (n.124-10523G>A)
11g.2572912G>CCA16613511KCNQ1c.586G>C (p.Ala196Pro)
c.478-10523G>C (n.478-10523G>C)
c.847G>C (p.Ala283Pro)
c.466G>C (p.Ala156Pro)
c.124-10523G>C (n.124-10523G>C)
 ClinVar dbSNP
11g.2572912G=CA1948243211KCNQ1c.586G= (p.Ala196=)
c.478-10523G= (n.478-10523G=)
c.847G= (p.Ala283=)
c.466G= (p.Ala156=)
c.124-10523G= (n.124-10523G=)
11g.2572912G>TCA379131505KCNQ1c.586G>T (p.Ala196Ser)
c.478-10523G>T (n.478-10523G>T)
c.847G>T (p.Ala283Ser)
c.466G>T (p.Ala156Ser)
c.124-10523G>T (n.124-10523G>T)
 ClinVar
11g.2572913C>ACA379131506KCNQ1c.587C>A (p.Ala196Asp)
c.478-10522C>A (n.478-10522C>A)
c.848C>A (p.Ala283Asp)
c.467C>A (p.Ala156Asp)
c.124-10522C>A (n.124-10522C>A)
11g.2572913C=CA1948243212KCNQ1c.587C= (p.Ala196=)
c.478-10522C= (n.478-10522C=)
c.848C= (p.Ala283=)
c.467C= (p.Ala156=)
c.124-10522C= (n.124-10522C=)
11g.2572913C>GCA008478KCNQ1c.587C>G (p.Ala196Gly)
c.478-10522C>G (n.478-10522C>G)
c.848C>G (p.Ala283Gly)
c.467C>G (p.Ala156Gly)
c.124-10522C>G (n.124-10522C>G)
 ClinVar dbSNP
11g.2572913C>TCA379131509KCNQ1c.587C>T (p.Ala196Val)
c.478-10522C>T (n.478-10522C>T)
c.848C>T (p.Ala283Val)
c.467C>T (p.Ala156Val)
c.124-10522C>T (n.124-10522C>T)
 ClinVar dbSNP gnomAD v4
11g.2572914T>ACA472038170KCNQ1c.588T>A (p.Ala196=)
c.478-10521T>A (n.478-10521T>A)
c.849T>A (p.Ala283=)
c.468T>A (p.Ala156=)
c.124-10521T>A (n.124-10521T>A)
11g.2572914T>CCA472038171KCNQ1c.588T>C (p.Ala196=)
c.478-10521T>C (n.478-10521T>C)
c.849T>C (p.Ala283=)
c.468T>C (p.Ala156=)
c.124-10521T>C (n.124-10521T>C)
11g.2572914T>GCA472038172KCNQ1c.588T>G (p.Ala196=)
c.478-10521T>G (n.478-10521T>G)
c.849T>G (p.Ala283=)
c.468T>G (p.Ala156=)
c.124-10521T>G (n.124-10521T>G)
11g.2572914_2572917delinsTGAGCA1948243213KCNQ1c.588_591delinsTGAG (p.Ala196=)
c.478-10521_478-10518delinsTGAG (n.478-10521_478-10518delinsTGAG)
c.849_852delinsTGAG (p.Ala283=)
c.468_471delinsTGAG (p.Ala156=)
c.124-10521_124-10518delinsTGAG (n.124-10521_124-10518delinsTGAG)
11g.2572915G>ACA008486KCNQ1c.589G>A (p.Glu197Lys)
c.478-10520G>A (n.478-10520G>A)
c.850G>A (p.Glu284Lys)
c.469G>A (p.Glu157Lys)
c.124-10520G>A (n.124-10520G>A)
 ClinVar dbSNP
11g.2572915G>CCA379131515KCNQ1c.589G>C (p.Glu197Gln)
c.478-10520G>C (n.478-10520G>C)
c.850G>C (p.Glu284Gln)
c.469G>C (p.Glu157Gln)
c.124-10520G>C (n.124-10520G>C)
11g.2572915G=CA1948243214KCNQ1c.589G= (p.Glu197=)
c.478-10520G= (n.478-10520G=)
c.850G= (p.Glu284=)
c.469G= (p.Glu157=)
c.124-10520G= (n.124-10520G=)
11g.2572915G>TCA379131513KCNQ1c.589G>T (p.Glu197Ter)
c.478-10520G>T (n.478-10520G>T)
c.850G>T (p.Glu284Ter)
c.469G>T (p.Glu157Ter)
c.124-10520G>T (n.124-10520G>T)
11g.2572915_2572917delCA16619310KCNQ1c.589_591del (p.Glu197del)
c.478-10520_478-10518del (n.478-10520_478-10518del)
c.850_852del (p.Glu284del)
c.469_471del (p.Glu157del)
c.124-10520_124-10518del (n.124-10520_124-10518del)
 ClinVar dbSNP
11g.2572916A=CA1948212019KCNQ1c.590A= (p.Glu197=)
c.478-10519A= (n.478-10519A=)
c.851A= (p.Glu284=)
c.470A= (p.Glu157=)
c.124-10519A= (n.124-10519A=)
11g.2572916A>CCA379131517KCNQ1c.590A>C (p.Glu197Ala)
c.478-10519A>C (n.478-10519A>C)
c.851A>C (p.Glu284Ala)
c.470A>C (p.Glu157Ala)
c.124-10519A>C (n.124-10519A>C)
11g.2572916A>GCA379131519KCNQ1c.590A>G (p.Glu197Gly)
c.478-10519A>G (n.478-10519A>G)
c.851A>G (p.Glu284Gly)
c.470A>G (p.Glu157Gly)
c.124-10519A>G (n.124-10519A>G)
 ClinVar dbSNP
11g.2572916A>TCA379131521KCNQ1c.590A>T (p.Glu197Val)
c.478-10519A>T (n.478-10519A>T)
c.851A>T (p.Glu284Val)
c.470A>T (p.Glu157Val)
c.124-10519A>T (n.124-10519A>T)
11g.2572917G>ACA472038173KCNQ1c.591G>A (p.Glu197=)
c.478-10518G>A (n.478-10518G>A)
c.852G>A (p.Glu284=)
c.471G>A (p.Glu157=)
c.124-10518G>A (n.124-10518G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572917G>CCA379131523KCNQ1c.591G>C (p.Glu197Asp)
c.478-10518G>C (n.478-10518G>C)
c.852G>C (p.Glu284Asp)
c.471G>C (p.Glu157Asp)
c.124-10518G>C (n.124-10518G>C)
11g.2572917G=CA1948212034KCNQ1c.591G= (p.Glu197=)
c.478-10518G= (n.478-10518G=)
c.852G= (p.Glu284=)
c.471G= (p.Glu157=)
c.124-10518G= (n.124-10518G=)
11g.2572917G>TCA379131525KCNQ1c.591G>T (p.Glu197Asp)
c.478-10518G>T (n.478-10518G>T)
c.852G>T (p.Glu284Asp)
c.471G>T (p.Glu157Asp)
c.124-10518G>T (n.124-10518G>T)
11g.2572918A>CCA379131532KCNQ1c.592A>C (p.Lys198Gln)
c.478-10517A>C (n.478-10517A>C)
c.853A>C (p.Lys285Gln)
c.472A>C (p.Lys158Gln)
c.124-10517A>C (n.124-10517A>C)
11g.2572918A>GCA379131530KCNQ1c.592A>G (p.Lys198Glu)
c.478-10517A>G (n.478-10517A>G)
c.853A>G (p.Lys285Glu)
c.472A>G (p.Lys158Glu)
c.124-10517A>G (n.124-10517A>G)
11g.2572918A>TCA379131528KCNQ1c.592A>T (p.Lys198Ter)
c.478-10517A>T (n.478-10517A>T)
c.853A>T (p.Lys285Ter)
c.472A>T (p.Lys158Ter)
c.124-10517A>T (n.124-10517A>T)
11g.2572918_2572926delinsTACTTTGTGTACCTCGTACTTTCA658655515KCNQ1c.592_600delinsTACTTTGTGTACCTCGTACTTT (p.Lys198TyrfsTer?)
c.478-10517_478-10509delinsTACTTTGTGTACCTCGTACTTT (n.478-10517_478-10509delinsTACTTTGTGTACCTCGTACTTT)
c.853_861delinsTACTTTGTGTACCTCGTACTTT (p.Lys285TyrfsTer?)
c.472_480delinsTACTTTGTGTACCTCGTACTTT (p.Lys158TyrfsTer?)
c.124-10517_124-10509delinsTACTTTGTGTACCTCGTACTTT (n.124-10517_124-10509delinsTACTTTGTGTACCTCGTACTTT)
11g.2572919A>CCA379131534KCNQ1c.593A>C (p.Lys198Thr)
c.478-10516A>C (n.478-10516A>C)
c.854A>C (p.Lys285Thr)
c.473A>C (p.Lys158Thr)
c.124-10516A>C (n.124-10516A>C)
11g.2572919A>GCA379131536KCNQ1c.593A>G (p.Lys198Arg)
c.478-10516A>G (n.478-10516A>G)
c.854A>G (p.Lys285Arg)
c.473A>G (p.Lys158Arg)
c.124-10516A>G (n.124-10516A>G)
11g.2572919A>TCA379131539KCNQ1c.593A>T (p.Lys198Met)
c.478-10516A>T (n.478-10516A>T)
c.854A>T (p.Lys285Met)
c.473A>T (p.Lys158Met)
c.124-10516A>T (n.124-10516A>T)
11g.2572920G>ACA040953KCNQ1c.594G>A (p.Lys198=)
c.478-10515G>A (n.478-10515G>A)
c.855G>A (p.Lys285=)
c.474G>A (p.Lys158=)
c.124-10515G>A (n.124-10515G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572920G>CCA379131542KCNQ1c.594G>C (p.Lys198Asn)
c.478-10515G>C (n.478-10515G>C)
c.855G>C (p.Lys285Asn)
c.474G>C (p.Lys158Asn)
c.124-10515G>C (n.124-10515G>C)
11g.2572920G=CA1948212041KCNQ1c.594G= (p.Lys198=)
c.478-10515G= (n.478-10515G=)
c.855G= (p.Lys285=)
c.474G= (p.Lys158=)
c.124-10515G= (n.124-10515G=)
11g.2572920G>TCA379131543KCNQ1c.594G>T (p.Lys198Asn)
c.478-10515G>T (n.478-10515G>T)
c.855G>T (p.Lys285Asn)
c.474G>T (p.Lys158Asn)
c.124-10515G>T (n.124-10515G>T)
11g.2572921G>ACA379131546KCNQ1c.595G>A (p.Asp199Asn)
c.478-10514G>A (n.478-10514G>A)
c.856G>A (p.Asp286Asn)
c.475G>A (p.Asp159Asn)
c.124-10514G>A (n.124-10514G>A)
 gnomAD v4
11g.2572921G>CCA379131544KCNQ1c.595G>C (p.Asp199His)
c.478-10514G>C (n.478-10514G>C)
c.856G>C (p.Asp286His)
c.475G>C (p.Asp159His)
c.124-10514G>C (n.124-10514G>C)
11g.2572921G>TCA379131545KCNQ1c.595G>T (p.Asp199Tyr)
c.478-10514G>T (n.478-10514G>T)
c.856G>T (p.Asp286Tyr)
c.475G>T (p.Asp159Tyr)
c.124-10514G>T (n.124-10514G>T)
11g.2572922A=CA1948212056KCNQ1c.596A= (p.Asp199=)
c.478-10513A= (n.478-10513A=)
c.857A= (p.Asp286=)
c.476A= (p.Asp159=)
c.124-10513A= (n.124-10513A=)
11g.2572922A>CCA379131547KCNQ1c.596A>C (p.Asp199Ala)
c.478-10513A>C (n.478-10513A>C)
c.857A>C (p.Asp286Ala)
c.476A>C (p.Asp159Ala)
c.124-10513A>C (n.124-10513A>C)
11g.2572922A>GCA379131548KCNQ1c.596A>G (p.Asp199Gly)
c.478-10513A>G (n.478-10513A>G)
c.857A>G (p.Asp286Gly)
c.476A>G (p.Asp159Gly)
c.124-10513A>G (n.124-10513A>G)
 dbSNP
11g.2572922A>TCA379131549KCNQ1c.596A>T (p.Asp199Val)
c.478-10513A>T (n.478-10513A>T)
c.857A>T (p.Asp286Val)
c.476A>T (p.Asp159Val)
c.124-10513A>T (n.124-10513A>T)
11g.2572922_2572941delinsACGCGGTGAACGAGTCAGGCCA1948212052KCNQ1c.596_615delinsACGCGGTGAACGAGTCAGGC (p.Asp199=)
c.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC (n.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC)
c.857_876delinsACGCGGTGAACGAGTCAGGC (p.Asp286=)
c.476_495delinsACGCGGTGAACGAGTCAGGC (p.Asp159=)
c.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC (n.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC)
11g.2572923C>ACA379131550KCNQ1c.597C>A (p.Asp199Glu)
c.478-10512C>A (n.478-10512C>A)
c.858C>A (p.Asp286Glu)
c.477C>A (p.Asp159Glu)
c.124-10512C>A (n.124-10512C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572923C=CA1948212061KCNQ1c.597C= (p.Asp199=)
c.478-10512C= (n.478-10512C=)
c.858C= (p.Asp286=)
c.477C= (p.Asp159=)
c.124-10512C= (n.124-10512C=)
11g.2572923C>GCA379131551KCNQ1c.597C>G (p.Asp199Glu)
c.478-10512C>G (n.478-10512C>G)
c.858C>G (p.Asp286Glu)
c.477C>G (p.Asp159Glu)
c.124-10512C>G (n.124-10512C>G)
 gnomAD v4
11g.2572923C>TCA040965KCNQ1c.597C>T (p.Asp199=)
c.478-10512C>T (n.478-10512C>T)
c.858C>T (p.Asp286=)
c.477C>T (p.Asp159=)
c.124-10512C>T (n.124-10512C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572927_2572945delCA008499KCNQ1c.601_619del (p.Val201TrpfsTer?)
c.478-10508_478-10490del (n.478-10508_478-10490del)
c.862_880del (p.Val288TrpfsTer?)
c.481_499del (p.Val161TrpfsTer?)
c.124-10508_124-10490del (n.124-10508_124-10490del)
 ClinVar dbSNP gnomAD v4
11g.2572924G>ACA040978KCNQ1c.598G>A (p.Ala200Thr)
c.478-10511G>A (n.478-10511G>A)
c.859G>A (p.Ala287Thr)
c.478G>A (p.Ala160Thr)
c.124-10511G>A (n.124-10511G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2572924G>CCA379131552KCNQ1c.598G>C (p.Ala200Pro)
c.478-10511G>C (n.478-10511G>C)
c.859G>C (p.Ala287Pro)
c.478G>C (p.Ala160Pro)
c.124-10511G>C (n.124-10511G>C)
11g.2572924G=CA1948212067KCNQ1c.598G= (p.Ala200=)
c.478-10511G= (n.478-10511G=)
c.859G= (p.Ala287=)
c.478G= (p.Ala160=)
c.124-10511G= (n.124-10511G=)
11g.2572924G>TCA040994KCNQ1c.598G>T (p.Ala200Ser)
c.478-10511G>T (n.478-10511G>T)
c.859G>T (p.Ala287Ser)
c.478G>T (p.Ala160Ser)
c.124-10511G>T (n.124-10511G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572925C>ACA008494KCNQ1c.599C>A (p.Ala200Glu)
c.478-10510C>A (n.478-10510C>A)
c.860C>A (p.Ala287Glu)
c.479C>A (p.Ala160Glu)
c.124-10510C>A (n.124-10510C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572925C=CA1948212085KCNQ1c.599C= (p.Ala200=)
c.478-10510C= (n.478-10510C=)
c.860C= (p.Ala287=)
c.479C= (p.Ala160=)
c.124-10510C= (n.124-10510C=)
11g.2572925C>GCA379131553KCNQ1c.599C>G (p.Ala200Gly)
c.478-10510C>G (n.478-10510C>G)
c.860C>G (p.Ala287Gly)
c.479C>G (p.Ala160Gly)
c.124-10510C>G (n.124-10510C>G)
11g.2572925C>TCA379131554KCNQ1c.599C>T (p.Ala200Val)
c.478-10510C>T (n.478-10510C>T)
c.860C>T (p.Ala287Val)
c.479C>T (p.Ala160Val)
c.124-10510C>T (n.124-10510C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572926G>ACA041034KCNQ1c.600G>A (p.Ala200=)
c.478-10509G>A (n.478-10509G>A)
c.861G>A (p.Ala287=)
c.480G>A (p.Ala160=)
c.124-10509G>A (n.124-10509G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572926G>CCA472038174KCNQ1c.600G>C (p.Ala200=)
c.478-10509G>C (n.478-10509G>C)
c.861G>C (p.Ala287=)
c.480G>C (p.Ala160=)
c.124-10509G>C (n.124-10509G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.2572926G=CA1948212097KCNQ1c.600G= (p.Ala200=)
c.478-10509G= (n.478-10509G=)
c.861G= (p.Ala287=)
c.480G= (p.Ala160=)
c.124-10509G= (n.124-10509G=)
11g.2572926G>TCA472038175KCNQ1c.600G>T (p.Ala200=)
c.478-10509G>T (n.478-10509G>T)
c.861G>T (p.Ala287=)
c.480G>T (p.Ala160=)
c.124-10509G>T (n.124-10509G>T)
11g.2572927G>ACA379131556KCNQ1c.601G>A (p.Val201Met)
c.478-10508G>A (n.478-10508G>A)
c.862G>A (p.Val288Met)
c.481G>A (p.Val161Met)
c.124-10508G>A (n.124-10508G>A)
 ClinVar dbSNP gnomAD v4
11g.2572927G>CCA379131555KCNQ1c.601G>C (p.Val201Leu)
c.478-10508G>C (n.478-10508G>C)
c.862G>C (p.Val288Leu)
c.481G>C (p.Val161Leu)
c.124-10508G>C (n.124-10508G>C)
11g.2572927G=CA1948212102KCNQ1c.601G= (p.Val201=)
c.478-10508G= (n.478-10508G=)
c.862G= (p.Val288=)
c.481G= (p.Val161=)
c.124-10508G= (n.124-10508G=)
11g.2572927G>TCA216312748KCNQ1c.601G>T (p.Val201Leu)
c.478-10508G>T (n.478-10508G>T)
c.862G>T (p.Val288Leu)
c.481G>T (p.Val161Leu)
c.124-10508G>T (n.124-10508G>T)
 dbSNP gnomAD v4
11g.2572928T>ACA379131559KCNQ1c.602T>A (p.Val201Glu)
c.478-10507T>A (n.478-10507T>A)
c.863T>A (p.Val288Glu)
c.482T>A (p.Val161Glu)
c.124-10507T>A (n.124-10507T>A)
11g.2572928T>CCA379131557KCNQ1c.602T>C (p.Val201Ala)
c.478-10507T>C (n.478-10507T>C)
c.863T>C (p.Val288Ala)
c.482T>C (p.Val161Ala)
c.124-10507T>C (n.124-10507T>C)
11g.2572928T>GCA379131558KCNQ1c.602T>G (p.Val201Gly)
c.478-10507T>G (n.478-10507T>G)
c.863T>G (p.Val288Gly)
c.482T>G (p.Val161Gly)
c.124-10507T>G (n.124-10507T>G)
11g.2572929G>ACA472038176KCNQ1c.603G>A (p.Val201=)
c.478-10506G>A (n.478-10506G>A)
c.864G>A (p.Val288=)
c.483G>A (p.Val161=)
c.124-10506G>A (n.124-10506G>A)
 ClinVar gnomAD v4
11g.2572929G>CCA472038178KCNQ1c.603G>C (p.Val201=)
c.478-10506G>C (n.478-10506G>C)
c.864G>C (p.Val288=)
c.483G>C (p.Val161=)
c.124-10506G>C (n.124-10506G>C)
11g.2572929G>TCA472038177KCNQ1c.603G>T (p.Val201=)
c.478-10506G>T (n.478-10506G>T)
c.864G>T (p.Val288=)
c.483G>T (p.Val161=)
c.124-10506G>T (n.124-10506G>T)
 gnomAD v4
11g.2572930A>CCA379131560KCNQ1c.604A>C (p.Asn202His)
c.478-10505A>C (n.478-10505A>C)
c.865A>C (p.Asn289His)
c.484A>C (p.Asn162His)
c.124-10505A>C (n.124-10505A>C)
11g.2572930A>GCA379131561KCNQ1c.604A>G (p.Asn202Asp)
c.478-10505A>G (n.478-10505A>G)
c.865A>G (p.Asn289Asp)
c.484A>G (p.Asn162Asp)
c.124-10505A>G (n.124-10505A>G)
 ClinVar
11g.2572930A>TCA379131562KCNQ1c.604A>T (p.Asn202Tyr)
c.478-10505A>T (n.478-10505A>T)
c.865A>T (p.Asn289Tyr)
c.484A>T (p.Asn162Tyr)
c.124-10505A>T (n.124-10505A>T)
11g.2572931A>CCA379131563KCNQ1c.605A>C (p.Asn202Thr)
c.478-10504A>C (n.478-10504A>C)
c.866A>C (p.Asn289Thr)
c.485A>C (p.Asn162Thr)
c.124-10504A>C (n.124-10504A>C)
11g.2572931A>GCA379131564KCNQ1c.605A>G (p.Asn202Ser)
c.478-10504A>G (n.478-10504A>G)
c.866A>G (p.Asn289Ser)
c.485A>G (p.Asn162Ser)
c.124-10504A>G (n.124-10504A>G)
11g.2572931A>TCA379131565KCNQ1c.605A>T (p.Asn202Ile)
c.478-10504A>T (n.478-10504A>T)
c.866A>T (p.Asn289Ile)
c.485A>T (p.Asn162Ile)
c.124-10504A>T (n.124-10504A>T)
11g.2572932C>ACA379131566KCNQ1c.606C>A (p.Asn202Lys)
c.478-10503C>A (n.478-10503C>A)
c.867C>A (p.Asn289Lys)
c.486C>A (p.Asn162Lys)
c.124-10503C>A (n.124-10503C>A)
11g.2572932C=CA1948212115KCNQ1c.606C= (p.Asn202=)
c.478-10503C= (n.478-10503C=)
c.867C= (p.Asn289=)
c.486C= (p.Asn162=)
c.124-10503C= (n.124-10503C=)
11g.2572932C>GCA379131567KCNQ1c.606C>G (p.Asn202Lys)
c.478-10503C>G (n.478-10503C>G)
c.867C>G (p.Asn289Lys)
c.486C>G (p.Asn162Lys)
c.124-10503C>G (n.124-10503C>G)
11g.2572932C>TCA472038179KCNQ1c.606C>T (p.Asn202=)
c.478-10503C>T (n.478-10503C>T)
c.867C>T (p.Asn289=)
c.486C>T (p.Asn162=)
c.124-10503C>T (n.124-10503C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2572933G>ACA008514KCNQ1c.607G>A (p.Glu203Lys)
c.478-10502G>A (n.478-10502G>A)
c.868G>A (p.Glu290Lys)
c.487G>A (p.Glu163Lys)
c.124-10502G>A (n.124-10502G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572933G>CCA379131569KCNQ1c.607G>C (p.Glu203Gln)
c.478-10502G>C (n.478-10502G>C)
c.868G>C (p.Glu290Gln)
c.487G>C (p.Glu163Gln)
c.124-10502G>C (n.124-10502G>C)
 gnomAD v4
11g.2572933G=CA1948212124KCNQ1c.607G= (p.Glu203=)
c.478-10502G= (n.478-10502G=)
c.868G= (p.Glu290=)
c.487G= (p.Glu163=)
c.124-10502G= (n.124-10502G=)
11g.2572933G>TCA379131571KCNQ1c.607G>T (p.Glu203Ter)
c.478-10502G>T (n.478-10502G>T)
c.868G>T (p.Glu290Ter)
c.487G>T (p.Glu163Ter)
c.124-10502G>T (n.124-10502G>T)
11g.2572934A>CCA379131573KCNQ1c.608A>C (p.Glu203Ala)
c.478-10501A>C (n.478-10501A>C)
c.869A>C (p.Glu290Ala)
c.488A>C (p.Glu163Ala)
c.124-10501A>C (n.124-10501A>C)
11g.2572934A>GCA379131576KCNQ1c.608A>G (p.Glu203Gly)
c.478-10501A>G (n.478-10501A>G)
c.869A>G (p.Glu290Gly)
c.488A>G (p.Glu163Gly)
c.124-10501A>G (n.124-10501A>G)
 ClinVar
11g.2572934A>TCA379131574KCNQ1c.608A>T (p.Glu203Val)
c.478-10501A>T (n.478-10501A>T)
c.869A>T (p.Glu290Val)
c.488A>T (p.Glu163Val)
c.124-10501A>T (n.124-10501A>T)
11g.2572935G>ACA472038180KCNQ1c.609G>A (p.Glu203=)
c.478-10500G>A (n.478-10500G>A)
c.870G>A (p.Glu290=)
c.489G>A (p.Glu163=)
c.124-10500G>A (n.124-10500G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572935G>CCA379131577KCNQ1c.609G>C (p.Glu203Asp)
c.478-10500G>C (n.478-10500G>C)
c.870G>C (p.Glu290Asp)
c.489G>C (p.Glu163Asp)
c.124-10500G>C (n.124-10500G>C)
11g.2572935G=CA1948212135KCNQ1c.609G= (p.Glu203=)
c.478-10500G= (n.478-10500G=)
c.870G= (p.Glu290=)
c.489G= (p.Glu163=)
c.124-10500G= (n.124-10500G=)
11g.2572935G>TCA379131579KCNQ1c.609G>T (p.Glu203Asp)
c.478-10500G>T (n.478-10500G>T)
c.870G>T (p.Glu290Asp)
c.489G>T (p.Glu163Asp)
c.124-10500G>T (n.124-10500G>T)
11g.2572936T>ACA379131582KCNQ1c.610T>A (p.Ser204Thr)
c.478-10499T>A (n.478-10499T>A)
c.871T>A (p.Ser291Thr)
c.490T>A (p.Ser164Thr)
c.124-10499T>A (n.124-10499T>A)
11g.2572936T>CCA379131583KCNQ1c.610T>C (p.Ser204Pro)
c.478-10499T>C (n.478-10499T>C)
c.871T>C (p.Ser291Pro)
c.490T>C (p.Ser164Pro)
c.124-10499T>C (n.124-10499T>C)
11g.2572936T>GCA379131585KCNQ1c.610T>G (p.Ser204Ala)
c.478-10499T>G (n.478-10499T>G)
c.871T>G (p.Ser291Ala)
c.490T>G (p.Ser164Ala)
c.124-10499T>G (n.124-10499T>G)
11g.2572937C>ACA379131588KCNQ1c.611C>A (p.Ser204Ter)
c.478-10498C>A (n.478-10498C>A)
c.872C>A (p.Ser291Ter)
c.491C>A (p.Ser164Ter)
c.124-10498C>A (n.124-10498C>A)
 gnomAD v4
11g.2572937C=CA1948212142KCNQ1c.611C= (p.Ser204=)
c.478-10498C= (n.478-10498C=)
c.872C= (p.Ser291=)
c.491C= (p.Ser164=)
c.124-10498C= (n.124-10498C=)
11g.2572937C>GCA379131590KCNQ1c.611C>G (p.Ser204Ter)
c.478-10498C>G (n.478-10498C>G)
c.872C>G (p.Ser291Ter)
c.491C>G (p.Ser164Ter)
c.124-10498C>G (n.124-10498C>G)
11g.2572937C>TCA379131592KCNQ1c.611C>T (p.Ser204Leu)
c.478-10498C>T (n.478-10498C>T)
c.872C>T (p.Ser291Leu)
c.491C>T (p.Ser164Leu)
c.124-10498C>T (n.124-10498C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.2572938A=CA1948212171KCNQ1c.612A= (p.Ser204=)
c.478-10497A= (n.478-10497A=)
c.873A= (p.Ser291=)
c.492A= (p.Ser164=)
c.124-10497A= (n.124-10497A=)
11g.2572938A>CCA472038181KCNQ1c.612A>C (p.Ser204=)
c.478-10497A>C (n.478-10497A>C)
c.873A>C (p.Ser291=)
c.492A>C (p.Ser164=)
c.124-10497A>C (n.124-10497A>C)
11g.2572938A>GCA472038182KCNQ1c.612A>G (p.Ser204=)
c.478-10497A>G (n.478-10497A>G)
c.873A>G (p.Ser291=)
c.492A>G (p.Ser164=)
c.124-10497A>G (n.124-10497A>G)
 ClinVar dbSNP gnomAD v4
11g.2572938A>TCA472038183KCNQ1c.612A>T (p.Ser204=)
c.478-10497A>T (n.478-10497A>T)
c.873A>T (p.Ser291=)
c.492A>T (p.Ser164=)
c.124-10497A>T (n.124-10497A>T)
11g.2572939G>ACA379131594KCNQ1c.613G>A (p.Gly205Ser)
c.478-10496G>A (n.478-10496G>A)
c.874G>A (p.Gly292Ser)
c.493G>A (p.Gly165Ser)
c.124-10496G>A (n.124-10496G>A)
11g.2572939G>CCA379131597KCNQ1c.613G>C (p.Gly205Arg)
c.478-10496G>C (n.478-10496G>C)
c.874G>C (p.Gly292Arg)
c.493G>C (p.Gly165Arg)
c.124-10496G>C (n.124-10496G>C)
11g.2572939G>TCA379131599KCNQ1c.613G>T (p.Gly205Cys)
c.478-10496G>T (n.478-10496G>T)
c.874G>T (p.Gly292Cys)
c.493G>T (p.Gly165Cys)
c.124-10496G>T (n.124-10496G>T)
11g.2572940G>ACA008520KCNQ1c.614G>A (p.Gly205Asp)
c.478-10495G>A (n.478-10495G>A)
c.875G>A (p.Gly292Asp)
c.494G>A (p.Gly165Asp)
c.124-10495G>A (n.124-10495G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572940G>CCA379131605KCNQ1c.614G>C (p.Gly205Ala)
c.478-10495G>C (n.478-10495G>C)
c.875G>C (p.Gly292Ala)
c.494G>C (p.Gly165Ala)
c.124-10495G>C (n.124-10495G>C)
11g.2572940G=CA1948212180KCNQ1c.614G= (p.Gly205=)
c.478-10495G= (n.478-10495G=)
c.875G= (p.Gly292=)
c.494G= (p.Gly165=)
c.124-10495G= (n.124-10495G=)
11g.2572940G>TCA379131602KCNQ1c.614G>T (p.Gly205Val)
c.478-10495G>T (n.478-10495G>T)
c.875G>T (p.Gly292Val)
c.494G>T (p.Gly165Val)
c.124-10495G>T (n.124-10495G>T)
11g.2572941C>ACA472038184KCNQ1c.615C>A (p.Gly205=)
c.478-10494C>A (n.478-10494C>A)
c.876C>A (p.Gly292=)
c.495C>A (p.Gly165=)
c.124-10494C>A (n.124-10494C>A)
11g.2572941C=CA1948212189KCNQ1c.615C= (p.Gly205=)
c.478-10494C= (n.478-10494C=)
c.876C= (p.Gly292=)
c.495C= (p.Gly165=)
c.124-10494C= (n.124-10494C=)
11g.2572941C>GCA472038185KCNQ1c.615C>G (p.Gly205=)
c.478-10494C>G (n.478-10494C>G)
c.876C>G (p.Gly292=)
c.495C>G (p.Gly165=)
c.124-10494C>G (n.124-10494C>G)
 COSMIC COSMIC
11g.2572941C>TCA216312760KCNQ1c.615C>T (p.Gly205=)
c.478-10494C>T (n.478-10494C>T)
c.876C>T (p.Gly292=)
c.495C>T (p.Gly165=)
c.124-10494C>T (n.124-10494C>T)
 dbSNP gnomAD v4
11g.2572942C>ACA379131607KCNQ1c.616C>A (p.Arg206Ser)
c.478-10493C>A (n.478-10493C>A)
c.877C>A (p.Arg293Ser)
c.496C>A (p.Arg166Ser)
c.124-10493C>A (n.124-10493C>A)
 gnomAD v4
11g.2572942C=CA1948212196KCNQ1c.616C= (p.Arg206=)
c.478-10493C= (n.478-10493C=)
c.877C= (p.Arg293=)
c.496C= (p.Arg166=)
c.124-10493C= (n.124-10493C=)
11g.2572942C>GCA379131610KCNQ1c.616C>G (p.Arg206Gly)
c.478-10493C>G (n.478-10493C>G)
c.877C>G (p.Arg293Gly)
c.496C>G (p.Arg166Gly)
c.124-10493C>G (n.124-10493C>G)
11g.2572942C>TCA008527KCNQ1c.616C>T (p.Arg206Cys)
c.478-10493C>T (n.478-10493C>T)
c.877C>T (p.Arg293Cys)
c.496C>T (p.Arg166Cys)
c.124-10493C>T (n.124-10493C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572943G>ACA008532KCNQ1c.617G>A (p.Arg206His)
c.478-10492G>A (n.478-10492G>A)
c.878G>A (p.Arg293His)
c.497G>A (p.Arg166His)
c.124-10492G>A (n.124-10492G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.2572943G>CCA379131611KCNQ1c.617G>C (p.Arg206Pro)
c.478-10492G>C (n.478-10492G>C)
c.878G>C (p.Arg293Pro)
c.497G>C (p.Arg166Pro)
c.124-10492G>C (n.124-10492G>C)
11g.2572943G=CA1948212205KCNQ1c.617G= (p.Arg206=)
c.478-10492G= (n.478-10492G=)
c.878G= (p.Arg293=)
c.497G= (p.Arg166=)
c.124-10492G= (n.124-10492G=)
11g.2572943G>TCA216312773KCNQ1c.617G>T (p.Arg206Leu)
c.478-10492G>T (n.478-10492G>T)
c.878G>T (p.Arg293Leu)
c.497G>T (p.Arg166Leu)
c.124-10492G>T (n.124-10492G>T)
 dbSNP
11g.2572944C>ACA041155KCNQ1c.618C>A (p.Arg206=)
c.478-10491C>A (n.478-10491C>A)
c.879C>A (p.Arg293=)
c.498C>A (p.Arg166=)
c.124-10491C>A (n.124-10491C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572944C=CA1948212215KCNQ1c.618C= (p.Arg206=)
c.478-10491C= (n.478-10491C=)
c.879C= (p.Arg293=)
c.498C= (p.Arg166=)
c.124-10491C= (n.124-10491C=)
11g.2572944C>GCA472038186KCNQ1c.618C>G (p.Arg206=)
c.478-10491C>G (n.478-10491C>G)
c.879C>G (p.Arg293=)
c.498C>G (p.Arg166=)
c.124-10491C>G (n.124-10491C>G)
11g.2572944C>TCA041171KCNQ1c.618C>T (p.Arg206=)
c.478-10491C>T (n.478-10491C>T)
c.879C>T (p.Arg293=)
c.498C>T (p.Arg166=)
c.124-10491C>T (n.124-10491C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572945G>ACA041183KCNQ1c.619G>A (p.Val207Met)
c.478-10490G>A (n.478-10490G>A)
c.880G>A (p.Val294Met)
c.499G>A (p.Val167Met)
c.124-10490G>A (n.124-10490G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572945G>CCA379131614KCNQ1c.619G>C (p.Val207Leu)
c.478-10490G>C (n.478-10490G>C)
c.880G>C (p.Val294Leu)
c.499G>C (p.Val167Leu)
c.124-10490G>C (n.124-10490G>C)
11g.2572945G=CA1948212223KCNQ1c.619G= (p.Val207=)
c.478-10490G= (n.478-10490G=)
c.880G= (p.Val294=)
c.499G= (p.Val167=)
c.124-10490G= (n.124-10490G=)
11g.2572945G>TCA379131617KCNQ1c.619G>T (p.Val207Leu)
c.478-10490G>T (n.478-10490G>T)
c.880G>T (p.Val294Leu)
c.499G>T (p.Val167Leu)
c.124-10490G>T (n.124-10490G>T)
 gnomAD v4
11g.2572946T>ACA379131619KCNQ1c.620T>A (p.Val207Glu)
c.478-10489T>A (n.478-10489T>A)
c.881T>A (p.Val294Glu)
c.500T>A (p.Val167Glu)
c.124-10489T>A (n.124-10489T>A)
11g.2572946T>CCA379131620KCNQ1c.620T>C (p.Val207Ala)
c.478-10489T>C (n.478-10489T>C)
c.881T>C (p.Val294Ala)
c.500T>C (p.Val167Ala)
c.124-10489T>C (n.124-10489T>C)
11g.2572946T>GCA379131622KCNQ1c.620T>G (p.Val207Gly)
c.478-10489T>G (n.478-10489T>G)
c.881T>G (p.Val294Gly)
c.500T>G (p.Val167Gly)
c.124-10489T>G (n.124-10489T>G)
11g.2572947G>ACA472038187KCNQ1c.621G>A (p.Val207=)
c.478-10488G>A (n.478-10488G>A)
c.882G>A (p.Val294=)
c.501G>A (p.Val167=)
c.124-10488G>A (n.124-10488G>A)
11g.2572947G>CCA472038188KCNQ1c.621G>C (p.Val207=)
c.478-10488G>C (n.478-10488G>C)
c.882G>C (p.Val294=)
c.501G>C (p.Val167=)
c.124-10488G>C (n.124-10488G>C)
11g.2572947G>TCA472038189KCNQ1c.621G>T (p.Val207=)
c.478-10488G>T (n.478-10488G>T)
c.882G>T (p.Val294=)
c.501G>T (p.Val167=)
c.124-10488G>T (n.124-10488G>T)
11g.2572948G>ACA379131627KCNQ1c.622G>A (p.Glu208Lys)
c.478-10487G>A (n.478-10487G>A)
c.883G>A (p.Glu295Lys)
c.502G>A (p.Glu168Lys)
c.124-10487G>A (n.124-10487G>A)
11g.2572948G>CCA379131626KCNQ1c.622G>C (p.Glu208Gln)
c.478-10487G>C (n.478-10487G>C)
c.883G>C (p.Glu295Gln)
c.502G>C (p.Glu168Gln)
c.124-10487G>C (n.124-10487G>C)
11g.2572948G>TCA379131625KCNQ1c.622G>T (p.Glu208Ter)
c.478-10487G>T (n.478-10487G>T)
c.883G>T (p.Glu295Ter)
c.502G>T (p.Glu168Ter)
c.124-10487G>T (n.124-10487G>T)
11g.2572949A>CCA379131628KCNQ1c.623A>C (p.Glu208Ala)
c.478-10486A>C (n.478-10486A>C)
c.884A>C (p.Glu295Ala)
c.503A>C (p.Glu168Ala)
c.124-10486A>C (n.124-10486A>C)
11g.2572949A>GCA379131630KCNQ1c.623A>G (p.Glu208Gly)
c.478-10486A>G (n.478-10486A>G)
c.884A>G (p.Glu295Gly)
c.503A>G (p.Glu168Gly)
c.124-10486A>G (n.124-10486A>G)
11g.2572949A>TCA379131632KCNQ1c.623A>T (p.Glu208Val)
c.478-10486A>T (n.478-10486A>T)
c.884A>T (p.Glu295Val)
c.503A>T (p.Glu168Val)
c.124-10486A>T (n.124-10486A>T)
11g.2572950G>ACA472038190KCNQ1c.624G>A (p.Glu208=)
c.478-10485G>A (n.478-10485G>A)
c.885G>A (p.Glu295=)
c.504G>A (p.Glu168=)
c.124-10485G>A (n.124-10485G>A)
 gnomAD v4
11g.2572950G>CCA379131634KCNQ1c.624G>C (p.Glu208Asp)
c.478-10485G>C (n.478-10485G>C)
c.885G>C (p.Glu295Asp)
c.504G>C (p.Glu168Asp)
c.124-10485G>C (n.124-10485G>C)
11g.2572950G>TCA379131636KCNQ1c.624G>T (p.Glu208Asp)
c.478-10485G>T (n.478-10485G>T)
c.885G>T (p.Glu295Asp)
c.504G>T (p.Glu168Asp)
c.124-10485G>T (n.124-10485G>T)
11g.2572951T>ACA379131638KCNQ1c.625T>A (p.Phe209Ile)
c.478-10484T>A (n.478-10484T>A)
c.886T>A (p.Phe296Ile)
c.505T>A (p.Phe169Ile)
c.124-10484T>A (n.124-10484T>A)
11g.2572951T>CCA379131640KCNQ1c.625T>C (p.Phe209Leu)
c.478-10484T>C (n.478-10484T>C)
c.886T>C (p.Phe296Leu)
c.505T>C (p.Phe169Leu)
c.124-10484T>C (n.124-10484T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.2572951T>GCA379131642KCNQ1c.625T>G (p.Phe209Val)
c.478-10484T>G (n.478-10484T>G)
c.886T>G (p.Phe296Val)
c.505T>G (p.Phe169Val)
c.124-10484T>G (n.124-10484T>G)
11g.2572952T>ACA379131643KCNQ1c.626T>A (p.Phe209Tyr)
c.478-10483T>A (n.478-10483T>A)
c.887T>A (p.Phe296Tyr)
c.506T>A (p.Phe169Tyr)
c.124-10483T>A (n.124-10483T>A)
11g.2572952T>CCA008541KCNQ1c.626T>C (p.Phe209Ser)
c.478-10483T>C (n.478-10483T>C)
c.887T>C (p.Phe296Ser)
c.506T>C (p.Phe169Ser)
c.124-10483T>C (n.124-10483T>C)
 ClinVar dbSNP
11g.2572952T>GCA379131646KCNQ1c.626T>G (p.Phe209Cys)
c.478-10483T>G (n.478-10483T>G)
c.887T>G (p.Phe296Cys)
c.506T>G (p.Phe169Cys)
c.124-10483T>G (n.124-10483T>G)
11g.2572952T=CA1948212235KCNQ1c.626T= (p.Phe209=)
c.478-10483T= (n.478-10483T=)
c.887T= (p.Phe296=)
c.506T= (p.Phe169=)
c.124-10483T= (n.124-10483T=)
11g.2572953C>ACA379131652KCNQ1c.627C>A (p.Phe209Leu)
c.478-10482C>A (n.478-10482C>A)
c.888C>A (p.Phe296Leu)
c.507C>A (p.Phe169Leu)
c.124-10482C>A (n.124-10482C>A)
11g.2572953C=CA1948212242KCNQ1c.627C= (p.Phe209=)
c.478-10482C= (n.478-10482C=)
c.888C= (p.Phe296=)
c.507C= (p.Phe169=)
c.124-10482C= (n.124-10482C=)
11g.2572953C>GCA379131651KCNQ1c.627C>G (p.Phe209Leu)
c.478-10482C>G (n.478-10482C>G)
c.888C>G (p.Phe296Leu)
c.507C>G (p.Phe169Leu)
c.124-10482C>G (n.124-10482C>G)
11g.2572953C>TCA041199KCNQ1c.627C>T (p.Phe209=)
c.478-10482C>T (n.478-10482C>T)
c.888C>T (p.Phe296=)
c.507C>T (p.Phe169=)
c.124-10482C>T (n.124-10482C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2572954G>ACA008547KCNQ1c.628G>A (p.Gly210Ser)
c.478-10481G>A (n.478-10481G>A)
c.889G>A (p.Gly297Ser)
c.508G>A (p.Gly170Ser)
c.124-10481G>A (n.124-10481G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572954G>CCA041239KCNQ1c.628G>C (p.Gly210Arg)
c.478-10481G>C (n.478-10481G>C)
c.889G>C (p.Gly297Arg)
c.508G>C (p.Gly170Arg)
c.124-10481G>C (n.124-10481G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572954G=CA1948212251KCNQ1c.628G= (p.Gly210=)
c.478-10481G= (n.478-10481G=)
c.889G= (p.Gly297=)
c.508G= (p.Gly170=)
c.124-10481G= (n.124-10481G=)
11g.2572954G>TCA379131655KCNQ1c.628G>T (p.Gly210Cys)
c.478-10481G>T (n.478-10481G>T)
c.889G>T (p.Gly297Cys)
c.508G>T (p.Gly170Cys)
c.124-10481G>T (n.124-10481G>T)
11g.2572955G>ACA041258KCNQ1c.629G>A (p.Gly210Asp)
c.478-10480G>A (n.478-10480G>A)
c.890G>A (p.Gly297Asp)
c.509G>A (p.Gly170Asp)
c.124-10480G>A (n.124-10480G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572955G>CCA379131658KCNQ1c.629G>C (p.Gly210Ala)
c.478-10480G>C (n.478-10480G>C)
c.890G>C (p.Gly297Ala)
c.509G>C (p.Gly170Ala)
c.124-10480G>C (n.124-10480G>C)
11g.2572955G=CA1948212260KCNQ1c.629G= (p.Gly210=)
c.478-10480G= (n.478-10480G=)
c.890G= (p.Gly297=)
c.509G= (p.Gly170=)
c.124-10480G= (n.124-10480G=)
11g.2572955G>TCA379131660KCNQ1c.629G>T (p.Gly210Val)
c.478-10480G>T (n.478-10480G>T)
c.890G>T (p.Gly297Val)
c.509G>T (p.Gly170Val)
c.124-10480G>T (n.124-10480G>T)
11g.2572956C>ACA041271KCNQ1c.630C>A (p.Gly210=)
c.478-10479C>A (n.478-10479C>A)
c.891C>A (p.Gly297=)
c.510C>A (p.Gly170=)
c.124-10479C>A (n.124-10479C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572956C=CA1948212263KCNQ1c.630C= (p.Gly210=)
c.478-10479C= (n.478-10479C=)
c.891C= (p.Gly297=)
c.510C= (p.Gly170=)
c.124-10479C= (n.124-10479C=)
11g.2572956C>GCA472038191KCNQ1c.630C>G (p.Gly210=)
c.478-10479C>G (n.478-10479C>G)
c.891C>G (p.Gly297=)
c.510C>G (p.Gly170=)
c.124-10479C>G (n.124-10479C>G)
11g.2572956C>TCA472038192KCNQ1c.630C>T (p.Gly210=)
c.478-10479C>T (n.478-10479C>T)
c.891C>T (p.Gly297=)
c.510C>T (p.Gly170=)
c.124-10479C>T (n.124-10479C>T)
11g.2572957A>CCA379131663KCNQ1c.631A>C (p.Ser211Arg)
c.478-10478A>C (n.478-10478A>C)
c.892A>C (p.Ser298Arg)
c.511A>C (p.Ser171Arg)
c.124-10478A>C (n.124-10478A>C)
11g.2572957A>GCA379131664KCNQ1c.631A>G (p.Ser211Gly)
c.478-10478A>G (n.478-10478A>G)
c.892A>G (p.Ser298Gly)
c.511A>G (p.Ser171Gly)
c.124-10478A>G (n.124-10478A>G)
11g.2572957A>TCA379131666KCNQ1c.631A>T (p.Ser211Cys)
c.478-10478A>T (n.478-10478A>T)
c.892A>T (p.Ser298Cys)
c.511A>T (p.Ser171Cys)
c.124-10478A>T (n.124-10478A>T)
11g.2572958G>ACA379131669KCNQ1c.632G>A (p.Ser211Asn)
c.478-10477G>A (n.478-10477G>A)
c.893G>A (p.Ser298Asn)
c.512G>A (p.Ser171Asn)
c.124-10477G>A (n.124-10477G>A)
 dbSNP gnomAD v2
11g.2572958G>CCA379131671KCNQ1c.632G>C (p.Ser211Thr)
c.478-10477G>C (n.478-10477G>C)
c.893G>C (p.Ser298Thr)
c.512G>C (p.Ser171Thr)
c.124-10477G>C (n.124-10477G>C)
 gnomAD v4
11g.2572958G=CA1948212271KCNQ1c.632G= (p.Ser211=)
c.478-10477G= (n.478-10477G=)
c.893G= (p.Ser298=)
c.512G= (p.Ser171=)
c.124-10477G= (n.124-10477G=)
11g.2572958G>TCA379131674KCNQ1c.632G>T (p.Ser211Ile)
c.478-10477G>T (n.478-10477G>T)
c.893G>T (p.Ser298Ile)
c.512G>T (p.Ser171Ile)
c.124-10477G>T (n.124-10477G>T)
11g.2572959C>ACA379131678KCNQ1c.633C>A (p.Ser211Arg)
c.478-10476C>A (n.478-10476C>A)
c.894C>A (p.Ser298Arg)
c.513C>A (p.Ser171Arg)
c.124-10476C>A (n.124-10476C>A)
 ClinVar
11g.2572959C=CA1948212276KCNQ1c.633C= (p.Ser211=)
c.478-10476C= (n.478-10476C=)
c.894C= (p.Ser298=)
c.513C= (p.Ser171=)
c.124-10476C= (n.124-10476C=)
11g.2572959C>GCA379131676KCNQ1c.633C>G (p.Ser211Arg)
c.478-10476C>G (n.478-10476C>G)
c.894C>G (p.Ser298Arg)
c.513C>G (p.Ser171Arg)
c.124-10476C>G (n.124-10476C>G)
 dbSNP
11g.2572959C>TCA472038193KCNQ1c.633C>T (p.Ser211=)
c.478-10476C>T (n.478-10476C>T)
c.894C>T (p.Ser298=)
c.513C>T (p.Ser171=)
c.124-10476C>T (n.124-10476C>T)
11g.2572960T>ACA379131681KCNQ1c.634T>A (p.Tyr212Asn)
c.478-10475T>A (n.478-10475T>A)
c.895T>A (p.Tyr299Asn)
c.514T>A (p.Tyr172Asn)
c.124-10475T>A (n.124-10475T>A)
11g.2572960T>CCA379131682KCNQ1c.634T>C (p.Tyr212His)
c.478-10475T>C (n.478-10475T>C)
c.895T>C (p.Tyr299His)
c.514T>C (p.Tyr172His)
c.124-10475T>C (n.124-10475T>C)
11g.2572960T>GCA379131684KCNQ1c.634T>G (p.Tyr212Asp)
c.478-10475T>G (n.478-10475T>G)
c.895T>G (p.Tyr299Asp)
c.514T>G (p.Tyr172Asp)
c.124-10475T>G (n.124-10475T>G)
11g.2572961A>CCA379131686KCNQ1c.635A>C (p.Tyr212Ser)
c.478-10474A>C (n.478-10474A>C)
c.896A>C (p.Tyr299Ser)
c.515A>C (p.Tyr172Ser)
c.124-10474A>C (n.124-10474A>C)
11g.2572961A>GCA379131688KCNQ1c.635A>G (p.Tyr212Cys)
c.478-10474A>G (n.478-10474A>G)
c.896A>G (p.Tyr299Cys)
c.515A>G (p.Tyr172Cys)
c.124-10474A>G (n.124-10474A>G)
11g.2572961A>TCA379131689KCNQ1c.635A>T (p.Tyr212Phe)
c.478-10474A>T (n.478-10474A>T)
c.896A>T (p.Tyr299Phe)
c.515A>T (p.Tyr172Phe)
c.124-10474A>T (n.124-10474A>T)
11g.2572962C>ACA379131690KCNQ1c.636C>A (p.Tyr212Ter)
c.478-10473C>A (n.478-10473C>A)
c.897C>A (p.Tyr299Ter)
c.516C>A (p.Tyr172Ter)
c.124-10473C>A (n.124-10473C>A)
11g.2572962C=CA1948212281KCNQ1c.636C= (p.Tyr212=)
c.478-10473C= (n.478-10473C=)
c.897C= (p.Tyr299=)
c.516C= (p.Tyr172=)
c.124-10473C= (n.124-10473C=)
11g.2572962C>GCA379131691KCNQ1c.636C>G (p.Tyr212Ter)
c.478-10473C>G (n.478-10473C>G)
c.897C>G (p.Tyr299Ter)
c.516C>G (p.Tyr172Ter)
c.124-10473C>G (n.124-10473C>G)
11g.2572962C>TCA041293KCNQ1c.636C>T (p.Tyr212=)
c.478-10473C>T (n.478-10473C>T)
c.897C>T (p.Tyr299=)
c.516C>T (p.Tyr172=)
c.124-10473C>T (n.124-10473C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572963G>ACA008554KCNQ1c.637G>A (p.Ala213Thr)
c.478-10472G>A (n.478-10472G>A)
c.898G>A (p.Ala300Thr)
c.517G>A (p.Ala173Thr)
c.124-10472G>A (n.124-10472G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572963G>CCA379131695KCNQ1c.637G>C (p.Ala213Pro)
c.478-10472G>C (n.478-10472G>C)
c.898G>C (p.Ala300Pro)
c.517G>C (p.Ala173Pro)
c.124-10472G>C (n.124-10472G>C)
11g.2572963G=CA1948212285KCNQ1c.637G= (p.Ala213=)
c.478-10472G= (n.478-10472G=)
c.898G= (p.Ala300=)
c.517G= (p.Ala173=)
c.124-10472G= (n.124-10472G=)
11g.2572963G>TCA379131697KCNQ1c.637G>T (p.Ala213Ser)
c.478-10472G>T (n.478-10472G>T)
c.898G>T (p.Ala300Ser)
c.517G>T (p.Ala173Ser)
c.124-10472G>T (n.124-10472G>T)
 ClinVar dbSNP gnomAD v4
11g.2572964C>ACA16613563KCNQ1c.638C>A (p.Ala213Glu)
c.478-10471C>A (n.478-10471C>A)
c.899C>A (p.Ala300Glu)
c.518C>A (p.Ala173Glu)
c.124-10471C>A (n.124-10471C>A)
 ClinVar dbSNP gnomAD v4
11g.2572964C=CA1948212297KCNQ1c.638C= (p.Ala213=)
c.478-10471C= (n.478-10471C=)
c.899C= (p.Ala300=)
c.518C= (p.Ala173=)
c.124-10471C= (n.124-10471C=)
11g.2572964C>GCA379131700KCNQ1c.638C>G (p.Ala213Gly)
c.478-10471C>G (n.478-10471C>G)
c.899C>G (p.Ala300Gly)
c.518C>G (p.Ala173Gly)
c.124-10471C>G (n.124-10471C>G)
 dbSNP gnomAD v4
11g.2572964C>TCA379131701KCNQ1c.638C>T (p.Ala213Val)
c.478-10471C>T (n.478-10471C>T)
c.899C>T (p.Ala300Val)
c.518C>T (p.Ala173Val)
c.124-10471C>T (n.124-10471C>T)
11g.2572965A=CA1948212305KCNQ1c.639A= (p.Ala213=)
c.478-10470A= (n.478-10470A=)
c.900A= (p.Ala300=)
c.519A= (p.Ala173=)
c.124-10470A= (n.124-10470A=)
11g.2572965A>CCA008569KCNQ1c.639A>C (p.Ala213=)
c.478-10470A>C (n.478-10470A>C)
c.900A>C (p.Ala300=)
c.519A>C (p.Ala173=)
c.124-10470A>C (n.124-10470A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572965A>GCA472038194KCNQ1c.639A>G (p.Ala213=)
c.478-10470A>G (n.478-10470A>G)
c.900A>G (p.Ala300=)
c.519A>G (p.Ala173=)
c.124-10470A>G (n.124-10470A>G)
 gnomAD v4
11g.2572965A>TCA472038195KCNQ1c.639A>T (p.Ala213=)
c.478-10470A>T (n.478-10470A>T)
c.900A>T (p.Ala300=)
c.519A>T (p.Ala173=)
c.124-10470A>T (n.124-10470A>T)
11g.2572966G>ACA379131710KCNQ1c.640G>A (p.Asp214Asn)
c.478-10469G>A (n.478-10469G>A)
c.901G>A (p.Asp301Asn)
c.520G>A (p.Asp174Asn)
c.124-10469G>A (n.124-10469G>A)
 COSMIC
11g.2572966G>CCA379131707KCNQ1c.640G>C (p.Asp214His)
c.478-10469G>C (n.478-10469G>C)
c.901G>C (p.Asp301His)
c.520G>C (p.Asp174His)
c.124-10469G>C (n.124-10469G>C)
11g.2572966G>TCA379131713KCNQ1c.640G>T (p.Asp214Tyr)
c.478-10469G>T (n.478-10469G>T)
c.901G>T (p.Asp301Tyr)
c.520G>T (p.Asp174Tyr)
c.124-10469G>T (n.124-10469G>T)
 ClinVar
11g.2572967A=CA1948212316KCNQ1c.641A= (p.Asp214=)
c.478-10468A= (n.478-10468A=)
c.902A= (p.Asp301=)
c.521A= (p.Asp174=)
c.124-10468A= (n.124-10468A=)
11g.2572967A>CCA379131715KCNQ1c.641A>C (p.Asp214Ala)
c.478-10468A>C (n.478-10468A>C)
c.902A>C (p.Asp301Ala)
c.521A>C (p.Asp174Ala)
c.124-10468A>C (n.124-10468A>C)
11g.2572967A>GCA379131718KCNQ1c.641A>G (p.Asp214Gly)
c.478-10468A>G (n.478-10468A>G)
c.902A>G (p.Asp301Gly)
c.521A>G (p.Asp174Gly)
c.124-10468A>G (n.124-10468A>G)
 dbSNP
11g.2572967A>TCA379131717KCNQ1c.641A>T (p.Asp214Val)
c.478-10468A>T (n.478-10468A>T)
c.902A>T (p.Asp301Val)
c.521A>T (p.Asp174Val)
c.124-10468A>T (n.124-10468A>T)
 ClinVar dbSNP gnomAD v4
11g.2572968T>ACA379131721KCNQ1c.642T>A (p.Asp214Glu)
c.478-10467T>A (n.478-10467T>A)
c.903T>A (p.Asp301Glu)
c.522T>A (p.Asp174Glu)
c.124-10467T>A (n.124-10467T>A)
11g.2572968T>CCA472038196KCNQ1c.642T>C (p.Asp214=)
c.478-10467T>C (n.478-10467T>C)
c.903T>C (p.Asp301=)
c.522T>C (p.Asp174=)
c.124-10467T>C (n.124-10467T>C)
 dbSNP
11g.2572968T>GCA379131723KCNQ1c.642T>G (p.Asp214Glu)
c.478-10467T>G (n.478-10467T>G)
c.903T>G (p.Asp301Glu)
c.522T>G (p.Asp174Glu)
c.124-10467T>G (n.124-10467T>G)
11g.2572969G>ACA008575KCNQ1c.643G>A (p.Ala215Thr)
c.478-10466G>A (n.478-10466G>A)
c.904G>A (p.Ala302Thr)
c.523G>A (p.Ala175Thr)
c.124-10466G>A (n.124-10466G>A)
 ClinVar dbSNP gnomAD v4
11g.2572969G>CCA379131729KCNQ1c.643G>C (p.Ala215Pro)
c.478-10466G>C (n.478-10466G>C)
c.904G>C (p.Ala302Pro)
c.523G>C (p.Ala175Pro)
c.124-10466G>C (n.124-10466G>C)
11g.2572969G=CA1948212324KCNQ1c.643G= (p.Ala215=)
c.478-10466G= (n.478-10466G=)
c.904G= (p.Ala302=)
c.523G= (p.Ala175=)
c.124-10466G= (n.124-10466G=)
11g.2572969G>TCA379131727KCNQ1c.643G>T (p.Ala215Ser)
c.478-10466G>T (n.478-10466G>T)
c.904G>T (p.Ala302Ser)
c.523G>T (p.Ala175Ser)
c.124-10466G>T (n.124-10466G>T)
11g.2572970C>ACA008583KCNQ1c.644C>A (p.Ala215Glu)
c.478-10465C>A (n.478-10465C>A)
c.905C>A (p.Ala302Glu)
c.524C>A (p.Ala175Glu)
c.124-10465C>A (n.124-10465C>A)
 ClinVar dbSNP
11g.2572970C=CA1948212334KCNQ1c.644C= (p.Ala215=)
c.478-10465C= (n.478-10465C=)
c.905C= (p.Ala302=)
c.524C= (p.Ala175=)
c.124-10465C= (n.124-10465C=)
11g.2572970C>GCA379131737KCNQ1c.644C>G (p.Ala215Gly)
c.478-10465C>G (n.478-10465C>G)
c.905C>G (p.Ala302Gly)
c.524C>G (p.Ala175Gly)
c.124-10465C>G (n.124-10465C>G)
11g.2572970C>TCA008587KCNQ1c.644C>T (p.Ala215Val)
c.478-10465C>T (n.478-10465C>T)
c.905C>T (p.Ala302Val)
c.524C>T (p.Ala175Val)
c.124-10465C>T (n.124-10465C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572971G>ACA041359KCNQ1c.645G>A (p.Ala215=)
c.478-10464G>A (n.478-10464G>A)
c.906G>A (p.Ala302=)
c.525G>A (p.Ala175=)
c.124-10464G>A (n.124-10464G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572971G>CCA472038197KCNQ1c.645G>C (p.Ala215=)
c.478-10464G>C (n.478-10464G>C)
c.906G>C (p.Ala302=)
c.525G>C (p.Ala175=)
c.124-10464G>C (n.124-10464G>C)
11g.2572971G=CA1948212345KCNQ1c.645G= (p.Ala215=)
c.478-10464G= (n.478-10464G=)
c.906G= (p.Ala302=)
c.525G= (p.Ala175=)
c.124-10464G= (n.124-10464G=)
11g.2572971G>TCA041371KCNQ1c.645G>T (p.Ala215=)
c.478-10464G>T (n.478-10464G>T)
c.906G>T (p.Ala302=)
c.525G>T (p.Ala175=)
c.124-10464G>T (n.124-10464G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572972C>ACA379131742KCNQ1c.646C>A (p.Leu216Met)
c.478-10463C>A (n.478-10463C>A)
c.907C>A (p.Leu303Met)
c.526C>A (p.Leu176Met)
c.124-10463C>A (n.124-10463C>A)
11g.2572972C>GCA379131743KCNQ1c.646C>G (p.Leu216Val)
c.478-10463C>G (n.478-10463C>G)
c.907C>G (p.Leu303Val)
c.526C>G (p.Leu176Val)
c.124-10463C>G (n.124-10463C>G)
11g.2572972C>TCA472038198KCNQ1c.646C>T (p.Leu216=)
c.478-10463C>T (n.478-10463C>T)
c.907C>T (p.Leu303=)
c.526C>T (p.Leu176=)
c.124-10463C>T (n.124-10463C>T)
11g.2572973T>ACA379131745KCNQ1c.647T>A (p.Leu216Gln)
c.478-10462T>A (n.478-10462T>A)
c.908T>A (p.Leu303Gln)
c.527T>A (p.Leu176Gln)
c.124-10462T>A (n.124-10462T>A)
11g.2572973T>CCA008593KCNQ1c.647T>C (p.Leu216Pro)
c.478-10462T>C (n.478-10462T>C)
c.908T>C (p.Leu303Pro)
c.527T>C (p.Leu176Pro)
c.124-10462T>C (n.124-10462T>C)
 ClinVar dbSNP
11g.2572973T>GCA379131748KCNQ1c.647T>G (p.Leu216Arg)
c.478-10462T>G (n.478-10462T>G)
c.908T>G (p.Leu303Arg)
c.527T>G (p.Leu176Arg)
c.124-10462T>G (n.124-10462T>G)
11g.2572973T=CA1948212348KCNQ1c.647T= (p.Leu216=)
c.478-10462T= (n.478-10462T=)
c.908T= (p.Leu303=)
c.527T= (p.Leu176=)
c.124-10462T= (n.124-10462T=)
11g.2572974G>ACA472038199KCNQ1c.648G>A (p.Leu216=)
c.478-10461G>A (n.478-10461G>A)
c.909G>A (p.Leu303=)
c.528G>A (p.Leu176=)
c.124-10461G>A (n.124-10461G>A)
 ClinVar dbSNP
11g.2572974G>CCA472038200KCNQ1c.648G>C (p.Leu216=)
c.478-10461G>C (n.478-10461G>C)
c.909G>C (p.Leu303=)
c.528G>C (p.Leu176=)
c.124-10461G>C (n.124-10461G>C)
11g.2572974G=CA1948212354KCNQ1c.648G= (p.Leu216=)
c.478-10461G= (n.478-10461G=)
c.909G= (p.Leu303=)
c.528G= (p.Leu176=)
c.124-10461G= (n.124-10461G=)
11g.2572974G>TCA472038201KCNQ1c.648G>T (p.Leu216=)
c.478-10461G>T (n.478-10461G>T)
c.909G>T (p.Leu303=)
c.528G>T (p.Leu176=)
c.124-10461G>T (n.124-10461G>T)
11g.2572974dupCA674975228KCNQ1c.648dup (p.Trp217ValfsTer?)
c.478-10461dup (n.478-10461dup)
c.909dup (p.Trp304ValfsTer?)
c.528dup (p.Trp177ValfsTer?)
c.124-10461dup (n.124-10461dup)
 dbSNP gnomAD v3 gnomAD v4
11g.2572975T>ACA379131751KCNQ1c.649T>A (p.Trp217Arg)
c.478-10460T>A (n.478-10460T>A)
c.910T>A (p.Trp304Arg)
c.529T>A (p.Trp177Arg)
c.124-10460T>A (n.124-10460T>A)
11g.2572975T>CCA008598KCNQ1c.649T>C (p.Trp217Arg)
c.478-10460T>C (n.478-10460T>C)
c.910T>C (p.Trp304Arg)
c.529T>C (p.Trp177Arg)
c.124-10460T>C (n.124-10460T>C)
 ClinVar dbSNP
11g.2572975T>GCA379131753KCNQ1c.649T>G (p.Trp217Gly)
c.478-10460T>G (n.478-10460T>G)
c.910T>G (p.Trp304Gly)
c.529T>G (p.Trp177Gly)
c.124-10460T>G (n.124-10460T>G)
 ClinVar
11g.2572975T=CA1948212374KCNQ1c.649T= (p.Trp217=)
c.478-10460T= (n.478-10460T=)
c.910T= (p.Trp304=)
c.529T= (p.Trp177=)
c.124-10460T= (n.124-10460T=)
11g.2572976G>ACA379131756KCNQ1c.650G>A (p.Trp217Ter)
c.478-10459G>A (n.478-10459G>A)
c.911G>A (p.Trp304Ter)
c.530G>A (p.Trp177Ter)
c.124-10459G>A (n.124-10459G>A)
 ClinVar
11g.2572976G>CCA379131758KCNQ1c.650G>C (p.Trp217Ser)
c.478-10459G>C (n.478-10459G>C)
c.911G>C (p.Trp304Ser)
c.530G>C (p.Trp177Ser)
c.124-10459G>C (n.124-10459G>C)
 ClinVar dbSNP
11g.2572976G>TCA379131760KCNQ1c.650G>T (p.Trp217Leu)
c.478-10459G>T (n.478-10459G>T)
c.911G>T (p.Trp304Leu)
c.530G>T (p.Trp177Leu)
c.124-10459G>T (n.124-10459G>T)
 ClinVar
11g.2572978_2572981dupCA2573146076KCNQ1c.652_655dup (p.Gly219ValfsTer?)
c.478-10457_478-10454dup (n.478-10457_478-10454dup)
c.913_916dup (p.Gly306ValfsTer?)
c.532_535dup (p.Gly179ValfsTer?)
c.124-10457_124-10454dup (n.124-10457_124-10454dup)
 ClinVar dbSNP
11g.2572977G>ACA379131762KCNQ1c.651G>A (p.Trp217Ter)
c.478-10458G>A (n.478-10458G>A)
c.912G>A (p.Trp304Ter)
c.531G>A (p.Trp177Ter)
c.124-10458G>A (n.124-10458G>A)
11g.2572977G>CCA379131764KCNQ1c.651G>C (p.Trp217Cys)
c.478-10458G>C (n.478-10458G>C)
c.912G>C (p.Trp304Cys)
c.531G>C (p.Trp177Cys)
c.124-10458G>C (n.124-10458G>C)
11g.2572977G>TCA379131763KCNQ1c.651G>T (p.Trp217Cys)
c.478-10458G>T (n.478-10458G>T)
c.912G>T (p.Trp304Cys)
c.531G>T (p.Trp177Cys)
c.124-10458G>T (n.124-10458G>T)
11g.2572978delCA2612004140KCNQ1c.652del (p.Trp218GlyfsTer?)
c.478-10457del (n.478-10457del)
c.913del (p.Trp305GlyfsTer?)
c.532del (p.Trp178GlyfsTer?)
c.124-10457del (n.124-10457del)
 gnomAD v4
11g.2572978T>ACA379131765KCNQ1c.652T>A (p.Trp218Arg)
c.478-10457T>A (n.478-10457T>A)
c.913T>A (p.Trp305Arg)
c.532T>A (p.Trp178Arg)
c.124-10457T>A (n.124-10457T>A)
 ClinVar
11g.2572978T>CCA008606KCNQ1c.652T>C (p.Trp218Arg)
c.478-10457T>C (n.478-10457T>C)
c.913T>C (p.Trp305Arg)
c.532T>C (p.Trp178Arg)
c.124-10457T>C (n.124-10457T>C)
 ClinVar dbSNP
11g.2572978T>GCA379131766KCNQ1c.652T>G (p.Trp218Gly)
c.478-10457T>G (n.478-10457T>G)
c.913T>G (p.Trp305Gly)
c.532T>G (p.Trp178Gly)
c.124-10457T>G (n.124-10457T>G)
 dbSNP
11g.2572978T=CA1948212383KCNQ1c.652T= (p.Trp218=)
c.478-10457T= (n.478-10457T=)
c.913T= (p.Trp305=)
c.532T= (p.Trp178=)
c.124-10457T= (n.124-10457T=)
11g.2572979G>ACA008615KCNQ1c.653G>A (p.Trp218Ter)
c.478-10456G>A (n.478-10456G>A)
c.914G>A (p.Trp305Ter)
c.533G>A (p.Trp178Ter)
c.124-10456G>A (n.124-10456G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572979G>CCA008623KCNQ1c.653G>C (p.Trp218Ser)
c.478-10456G>C (n.478-10456G>C)
c.914G>C (p.Trp305Ser)
c.533G>C (p.Trp178Ser)
c.124-10456G>C (n.124-10456G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572979G=CA1948212397KCNQ1c.653G= (p.Trp218=)
c.478-10456G= (n.478-10456G=)
c.914G= (p.Trp305=)
c.533G= (p.Trp178=)
c.124-10456G= (n.124-10456G=)
11g.2572979G>TCA008627KCNQ1c.653G>T (p.Trp218Leu)
c.478-10456G>T (n.478-10456G>T)
c.914G>T (p.Trp305Leu)
c.533G>T (p.Trp178Leu)
c.124-10456G>T (n.124-10456G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572984delCA913188343KCNQ1c.658del (p.Val220TrpfsTer?)
c.478-10451del (n.478-10451del)
c.919del (p.Val307TrpfsTer?)
c.538del (p.Val180TrpfsTer?)
c.124-10451del (n.124-10451del)
 ClinVar dbSNP gnomAD v4
11g.2572983_2572984delCA2612004141KCNQ1c.657_658del (p.Val220GlyfsTer?)
c.478-10452_478-10451del (n.478-10452_478-10451del)
c.918_919del (p.Val307GlyfsTer?)
c.537_538del (p.Val180GlyfsTer?)
c.124-10452_124-10451del (n.124-10452_124-10451del)
 gnomAD v4
11g.2572980G>ACA379131772KCNQ1c.654G>A (p.Trp218Ter)
c.478-10455G>A (n.478-10455G>A)
c.915G>A (p.Trp305Ter)
c.534G>A (p.Trp178Ter)
c.124-10455G>A (n.124-10455G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572980G>CCA379131774KCNQ1c.654G>C (p.Trp218Cys)
c.478-10455G>C (n.478-10455G>C)
c.915G>C (p.Trp305Cys)
c.534G>C (p.Trp178Cys)
c.124-10455G>C (n.124-10455G>C)
 ClinVar
11g.2572980G=CA1948212419KCNQ1c.654G= (p.Trp218=)
c.478-10455G= (n.478-10455G=)
c.915G= (p.Trp305=)
c.534G= (p.Trp178=)
c.124-10455G= (n.124-10455G=)
11g.2572980G>TCA379131775KCNQ1c.654G>T (p.Trp218Cys)
c.478-10455G>T (n.478-10455G>T)
c.915G>T (p.Trp305Cys)
c.534G>T (p.Trp178Cys)
c.124-10455G>T (n.124-10455G>T)
 dbSNP
11g.2572981G>ACA008634KCNQ1c.655G>A (p.Gly219Arg)
c.478-10454G>A (n.478-10454G>A)
c.916G>A (p.Gly306Arg)
c.535G>A (p.Gly179Arg)
c.124-10454G>A (n.124-10454G>A)
 ClinVar dbSNP
11g.2572981G>CCA008640KCNQ1c.655G>C (p.Gly219Arg)
c.478-10454G>C (n.478-10454G>C)
c.916G>C (p.Gly306Arg)
c.535G>C (p.Gly179Arg)
c.124-10454G>C (n.124-10454G>C)
 ClinVar dbSNP
11g.2572981G=CA1948212421KCNQ1c.655G= (p.Gly219=)
c.478-10454G= (n.478-10454G=)
c.916G= (p.Gly306=)
c.535G= (p.Gly179=)
c.124-10454G= (n.124-10454G=)
11g.2572981G>TCA379131778KCNQ1c.655G>T (p.Gly219Trp)
c.478-10454G>T (n.478-10454G>T)
c.916G>T (p.Gly306Trp)
c.535G>T (p.Gly179Trp)
c.124-10454G>T (n.124-10454G>T)
11g.2572981_2572993delinsGGGGTGGTAAGTCCA1948212429KCNQ1c.655_660+7delinsGGGGTGGTAAGTC
c.478-10454_478-10442delinsGGGGTGGTAAGTC (n.478-10454_478-10442delinsGGGGTGGTAAGTC)
c.916_921+7delinsGGGGTGGTAAGTC
c.535_540+7delinsGGGGTGGTAAGTC
c.124-10454_124-10442delinsGGGGTGGTAAGTC (n.124-10454_124-10442delinsGGGGTGGTAAGTC)
11g.2572982G>ACA379131783KCNQ1c.656G>A (p.Gly219Glu)
c.478-10453G>A (n.478-10453G>A)
c.917G>A (p.Gly306Glu)
c.536G>A (p.Gly179Glu)
c.124-10453G>A (n.124-10453G>A)
 ClinVar dbSNP
11g.2572982G>CCA379131785KCNQ1c.656G>C (p.Gly219Ala)
c.478-10453G>C (n.478-10453G>C)
c.917G>C (p.Gly306Ala)
c.536G>C (p.Gly179Ala)
c.124-10453G>C (n.124-10453G>C)
11g.2572982G=CA1948212444KCNQ1c.656G= (p.Gly219=)
c.478-10453G= (n.478-10453G=)
c.917G= (p.Gly306=)
c.536G= (p.Gly179=)
c.124-10453G= (n.124-10453G=)
11g.2572982G>TCA008647KCNQ1c.656G>T (p.Gly219Val)
c.478-10453G>T (n.478-10453G>T)
c.917G>T (p.Gly306Val)
c.536G>T (p.Gly179Val)
c.124-10453G>T (n.124-10453G>T)
 ClinVar dbSNP
11g.2572982_2572985delinsGGGTCA1948212437KCNQ1c.656_659delinsGGGT (p.Gly219=)
c.478-10453_478-10450delinsGGGT (n.478-10453_478-10450delinsGGGT)
c.917_920delinsGGGT (p.Gly306=)
c.536_539delinsGGGT (p.Gly179=)
c.124-10453_124-10450delinsGGGT (n.124-10453_124-10450delinsGGGT)
11g.2572984_2572987delCA2612004150KCNQ1c.658_660+1del
c.478-10451_478-10448del (n.478-10451_478-10448del)
c.919_921+1del
c.538_540+1del
c.124-10451_124-10448del (n.124-10451_124-10448del)
 gnomAD v4
11g.2572984_2572995delCA305973KCNQ1c.658_660+9del
c.478-10451_478-10440del (n.478-10451_478-10440del)
c.919_921+9del
c.538_540+9del
c.124-10451_124-10440del (n.124-10451_124-10440del)
 ClinVar dbSNP gnomAD v4
11g.2572983G>ACA472038202KCNQ1c.657G>A (p.Gly219=)
c.478-10452G>A (n.478-10452G>A)
c.918G>A (p.Gly306=)
c.537G>A (p.Gly179=)
c.124-10452G>A (n.124-10452G>A)
 ClinVar gnomAD v4
11g.2572983G>CCA472038203KCNQ1c.657G>C (p.Gly219=)
c.478-10452G>C (n.478-10452G>C)
c.918G>C (p.Gly306=)
c.537G>C (p.Gly179=)
c.124-10452G>C (n.124-10452G>C)
11g.2572983G>TCA472038204KCNQ1c.657G>T (p.Gly219=)
c.478-10452G>T (n.478-10452G>T)
c.918G>T (p.Gly306=)
c.537G>T (p.Gly179=)
c.124-10452G>T (n.124-10452G>T)
11g.2572986_2572988delCA326304KCNQ1c.660_660+2del
c.478-10449_478-10447del (n.478-10449_478-10447del)
c.921_921+2del
c.540_540+2del
c.124-10449_124-10447del (n.124-10449_124-10447del)
 ClinVar dbSNP
11g.2572984G>ACA379131791KCNQ1c.658G>A (p.Val220Met)
c.478-10451G>A (n.478-10451G>A)
c.919G>A (p.Val307Met)
c.538G>A (p.Val180Met)
c.124-10451G>A (n.124-10451G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572984G>CCA008654KCNQ1c.658G>C (p.Val220Leu)
c.478-10451G>C (n.478-10451G>C)
c.919G>C (p.Val307Leu)
c.538G>C (p.Val180Leu)
c.124-10451G>C (n.124-10451G>C)
 ClinVar dbSNP
11g.2572984G=CA1948212460KCNQ1c.658G= (p.Val220=)
c.478-10451G= (n.478-10451G=)
c.919G= (p.Val307=)
c.538G= (p.Val180=)
c.124-10451G= (n.124-10451G=)
11g.2572984G>TCA379131793KCNQ1c.658G>T (p.Val220Leu)
c.478-10451G>T (n.478-10451G>T)
c.919G>T (p.Val307Leu)
c.538G>T (p.Val180Leu)
c.124-10451G>T (n.124-10451G>T)
 ClinVar dbSNP
11g.2572985T>ACA379131796KCNQ1c.659T>A (p.Val220Glu)
c.478-10450T>A (n.478-10450T>A)
c.920T>A (p.Val307Glu)
c.539T>A (p.Val180Glu)
c.124-10450T>A (n.124-10450T>A)
 ClinVar dbSNP
11g.2572985T>CCA379131798KCNQ1c.659T>C (p.Val220Ala)
c.478-10450T>C (n.478-10450T>C)
c.920T>C (p.Val307Ala)
c.539T>C (p.Val180Ala)
c.124-10450T>C (n.124-10450T>C)
11g.2572985T>GCA379131800KCNQ1c.659T>G (p.Val220Gly)
c.478-10450T>G (n.478-10450T>G)
c.920T>G (p.Val307Gly)
c.539T>G (p.Val180Gly)
c.124-10450T>G (n.124-10450T>G)
 dbSNP
11g.2572985T=CA1948212474KCNQ1c.659T= (p.Val220=)
c.478-10450T= (n.478-10450T=)
c.920T= (p.Val307=)
c.539T= (p.Val180=)
c.124-10450T= (n.124-10450T=)
11g.2572986G>ACA008670KCNQ1c.660G>A (p.Val220=)
c.478-10449G>A (n.478-10449G>A)
c.921G>A (p.Val307=)
c.540G>A (p.Val180=)
c.124-10449G>A (n.124-10449G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572986G>CCA472038205KCNQ1c.660G>C (p.Val220=)
c.478-10449G>C (n.478-10449G>C)
c.921G>C (p.Val307=)
c.540G>C (p.Val180=)
c.124-10449G>C (n.124-10449G>C)
11g.2572986G=CA1948212480KCNQ1c.660G= (p.Val220=)
c.478-10449G= (n.478-10449G=)
c.921G= (p.Val307=)
c.540G= (p.Val180=)
c.124-10449G= (n.124-10449G=)
11g.2572986G>TCA472038206KCNQ1c.660G>T (p.Val220=)
c.478-10449G>T (n.478-10449G>T)
c.921G>T (p.Val307=)
c.540G>T (p.Val180=)
c.124-10449G>T (n.124-10449G>T)
11g.2572987delCA658761327KCNQ1c.660+1del
c.478-10448del (n.478-10448del)
c.921+1del
c.540+1del
c.124-10448del (n.124-10448del)
11g.2572987G>ACA379131805KCNQ1c.660+1G>A (n.660+1G>A)
c.478-10448G>A (n.478-10448G>A)
c.921+1G>A (n.921+1G>A)
c.540+1G>A (n.540+1G>A)
c.124-10448G>A (n.124-10448G>A)
 ClinVar dbSNP
11g.2572987G>CCA379131803KCNQ1c.660+1G>C (n.660+1G>C)
c.478-10448G>C (n.478-10448G>C)
c.921+1G>C (n.921+1G>C)
c.540+1G>C (n.540+1G>C)
c.124-10448G>C (n.124-10448G>C)
11g.2572987G=CA1948212493KCNQ1c.660+1G= (n.660+1G=)
c.478-10448G= (n.478-10448G=)
c.921+1G= (n.921+1G=)
c.540+1G= (n.540+1G=)
c.124-10448G= (n.124-10448G=)
11g.2572987G>TCA008659KCNQ1c.660+1G>T (n.660+1G>T)
c.478-10448G>T (n.478-10448G>T)
c.921+1G>T (n.921+1G>T)
c.540+1G>T (n.540+1G>T)
c.124-10448G>T (n.124-10448G>T)
 ClinVar dbSNP
11g.2572988delCA2695213159KCNQ1c.660+2del (n.660+2del)
c.478-10447del (n.478-10447del)
c.921+2del (n.921+2del)
c.540+2del (n.540+2del)
c.124-10447del (n.124-10447del)
11g.2572988T>ACA379131809KCNQ1c.660+2T>A (n.660+2T>A)
c.478-10447T>A (n.478-10447T>A)
c.921+2T>A (n.921+2T>A)
c.540+2T>A (n.540+2T>A)
c.124-10447T>A (n.124-10447T>A)
11g.2572988T>CCA379131810KCNQ1c.660+2T>C (n.660+2T>C)
c.478-10447T>C (n.478-10447T>C)
c.921+2T>C (n.921+2T>C)
c.540+2T>C (n.540+2T>C)
c.124-10447T>C (n.124-10447T>C)
11g.2572988T>GCA379131812KCNQ1c.660+2T>G (n.660+2T>G)
c.478-10447T>G (n.478-10447T>G)
c.921+2T>G (n.921+2T>G)
c.540+2T>G (n.540+2T>G)
c.124-10447T>G (n.124-10447T>G)
 dbSNP
11g.2572988T=CA1948212498KCNQ1c.660+2T= (n.660+2T=)
c.478-10447T= (n.478-10447T=)
c.921+2T= (n.921+2T=)
c.540+2T= (n.540+2T=)
c.124-10447T= (n.124-10447T=)
11g.2572990A>GCA2499220869KCNQ1c.660+4A>G (n.660+4A>G)
c.478-10445A>G (n.478-10445A>G)
c.921+4A>G (n.921+4A>G)
c.540+4A>G (n.540+4A>G)
c.124-10445A>G (n.124-10445A>G)
 ClinVar dbSNP
11g.2572993C=CA1948212502KCNQ1c.660+7C= (n.660+7C=)
c.478-10442C= (n.478-10442C=)
c.921+7C= (n.921+7C=)
c.540+7C= (n.540+7C=)
c.124-10442C= (n.124-10442C=)
11g.2572993C>GCA2612004171KCNQ1c.660+7C>G (n.660+7C>G)
c.478-10442C>G (n.478-10442C>G)
c.921+7C>G (n.921+7C>G)
c.540+7C>G (n.540+7C>G)
c.124-10442C>G (n.124-10442C>G)
 gnomAD v4
11g.2572993C>TCA041503KCNQ1c.660+7C>T (n.660+7C>T)
c.478-10442C>T (n.478-10442C>T)
c.921+7C>T (n.921+7C>T)
c.540+7C>T (n.540+7C>T)
c.124-10442C>T (n.124-10442C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572994G>ACA041513KCNQ1c.660+8G>A (n.660+8G>A)
c.478-10441G>A (n.478-10441G>A)
c.921+8G>A (n.921+8G>A)
c.540+8G>A (n.540+8G>A)
c.124-10441G>A (n.124-10441G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572994G=CA1948212509KCNQ1c.660+8G= (n.660+8G=)
c.478-10441G= (n.478-10441G=)
c.921+8G= (n.921+8G=)
c.540+8G= (n.540+8G=)
c.124-10441G= (n.124-10441G=)
11g.2572994G>TCA216312886KCNQ1c.660+8G>T (n.660+8G>T)
c.478-10441G>T (n.478-10441G>T)
c.921+8G>T (n.921+8G>T)
c.540+8G>T (n.540+8G>T)
c.124-10441G>T (n.124-10441G>T)
 dbSNP
11g.2572994_2573001dupCA2580082640KCNQ1c.660+8_660+15dup (n.660+8_660+15dup)
c.478-10441_478-10434dup (n.478-10441_478-10434dup)
c.921+8_921+15dup (n.921+8_921+15dup)
c.540+8_540+15dup (n.540+8_540+15dup)
c.124-10441_124-10434dup (n.124-10441_124-10434dup)
 ClinVar
11g.2572995_2572996delinsGACA1948212518KCNQ1c.660+9_660+10delinsGA (n.660+9_660+10delinsGA)
c.478-10440_478-10439delinsGA (n.478-10440_478-10439delinsGA)
c.921+9_921+10delinsGA (n.921+9_921+10delinsGA)
c.540+9_540+10delinsGA (n.540+9_540+10delinsGA)
c.124-10440_124-10439delinsGA (n.124-10440_124-10439delinsGA)
11g.2572998delCA674975287KCNQ1c.660+12del (n.660+12del)
c.478-10437del (n.478-10437del)
c.921+12del (n.921+12del)
c.540+12del (n.540+12del)
c.124-10437del (n.124-10437del)
 dbSNP gnomAD v3 gnomAD v4
11g.2572997A>GCA2612004182KCNQ1c.660+11A>G (n.660+11A>G)
c.478-10438A>G (n.478-10438A>G)
c.921+11A>G (n.921+11A>G)
c.540+11A>G (n.540+11A>G)
c.124-10438A>G (n.124-10438A>G)
 gnomAD v4
11g.2572998A=CA1948212522KCNQ1c.660+12A= (n.660+12A=)
c.478-10437A= (n.478-10437A=)
c.921+12A= (n.921+12A=)
c.540+12A= (n.540+12A=)
c.124-10437A= (n.124-10437A=)
11g.2572998A>GCA1139661775KCNQ1c.660+12A>G (n.660+12A>G)
c.478-10437A>G (n.478-10437A>G)
c.921+12A>G (n.921+12A>G)
c.540+12A>G (n.540+12A>G)
c.124-10437A>G (n.124-10437A>G)
 ClinVar dbSNP
11g.2572999C=CA1948212528KCNQ1c.660+13C= (n.660+13C=)
c.478-10436C= (n.478-10436C=)
c.921+13C= (n.921+13C=)
c.540+13C= (n.540+13C=)
c.124-10436C= (n.124-10436C=)
11g.2572999C>TCA041417KCNQ1c.660+13C>T (n.660+13C>T)
c.478-10436C>T (n.478-10436C>T)
c.921+13C>T (n.921+13C>T)
c.540+13C>T (n.540+13C>T)
c.124-10436C>T (n.124-10436C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2573001T>CCA216312894KCNQ1c.660+15T>C (n.660+15T>C)
c.478-10434T>C (n.478-10434T>C)
c.921+15T>C (n.921+15T>C)
c.540+15T>C (n.540+15T>C)
c.124-10434T>C (n.124-10434T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2573001T=CA1948212531KCNQ1c.660+15T= (n.660+15T=)
c.478-10434T= (n.478-10434T=)
c.921+15T= (n.921+15T=)
c.540+15T= (n.540+15T=)
c.124-10434T= (n.124-10434T=)
11g.2573002C=CA1948212535KCNQ1c.660+16C= (n.660+16C=)
c.478-10433C= (n.478-10433C=)
c.921+16C= (n.921+16C=)
c.540+16C= (n.540+16C=)
c.124-10433C= (n.124-10433C=)
11g.2573002C>GCA1948212536KCNQ1c.660+16C>G (n.660+16C>G)
c.478-10433C>G (n.478-10433C>G)
c.921+16C>G (n.921+16C>G)
c.540+16C>G (n.540+16C>G)
c.124-10433C>G (n.124-10433C>G)
 dbSNP
11g.2573003C=CA1948212539KCNQ1c.660+17C= (n.660+17C=)
c.478-10432C= (n.478-10432C=)
c.921+17C= (n.921+17C=)
c.540+17C= (n.540+17C=)
c.124-10432C= (n.124-10432C=)
11g.2573003C>TCA041445KCNQ1c.660+17C>T (n.660+17C>T)
c.478-10432C>T (n.478-10432C>T)
c.921+17C>T (n.921+17C>T)
c.540+17C>T (n.540+17C>T)
c.124-10432C>T (n.124-10432C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2573006G=CA1948212541KCNQ1c.660+20G= (n.660+20G=)
c.478-10429G= (n.478-10429G=)
c.921+20G= (n.921+20G=)
c.540+20G= (n.540+20G=)
c.124-10429G= (n.124-10429G=)
11g.2573006G>TCA597432472KCNQ1c.660+20G>T (n.660+20G>T)
c.478-10429G>T (n.478-10429G>T)
c.921+20G>T (n.921+20G>T)
c.540+20G>T (n.540+20G>T)
c.124-10429G>T (n.124-10429G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.2573007C=CA1948212544KCNQ1c.660+21C= (n.660+21C=)
c.478-10428C= (n.478-10428C=)
c.921+21C= (n.921+21C=)
c.540+21C= (n.540+21C=)
c.124-10428C= (n.124-10428C=)
11g.2573007C>TCA597432473KCNQ1c.660+21C>T (n.660+21C>T)
c.478-10428C>T (n.478-10428C>T)
c.921+21C>T (n.921+21C>T)
c.540+21C>T (n.540+21C>T)
c.124-10428C>T (n.124-10428C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2573008A=CA1948212550KCNQ1c.660+22A= (n.660+22A=)
c.478-10427A= (n.478-10427A=)
c.921+22A= (n.921+22A=)
c.540+22A= (n.540+22A=)
c.124-10427A= (n.124-10427A=)
11g.2573008A>CCA2612004194KCNQ1c.660+22A>C (n.660+22A>C)
c.478-10427A>C (n.478-10427A>C)
c.921+22A>C (n.921+22A>C)
c.540+22A>C (n.540+22A>C)
c.124-10427A>C (n.124-10427A>C)
 gnomAD v4
11g.2573008A>GCA1948212552KCNQ1c.660+22A>G (n.660+22A>G)
c.478-10427A>G (n.478-10427A>G)
c.921+22A>G (n.921+22A>G)
c.540+22A>G (n.540+22A>G)
c.124-10427A>G (n.124-10427A>G)
 dbSNP gnomAD v4

Number of alleles fetched