Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2570664G>ACA007311KCNQ1c.253G>A (p.Val85Met)
c.478-12771G>A (n.478-12771G>A)
c.514G>A (p.Val172Met)
c.133G>A (p.Val45Met)
c.124-12771G>A (n.124-12771G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2570664G>CCA379129862KCNQ1c.253G>C (p.Val85Leu)
c.478-12771G>C (n.478-12771G>C)
c.514G>C (p.Val172Leu)
c.133G>C (p.Val45Leu)
c.124-12771G>C (n.124-12771G>C)
 ClinVar dbSNP gnomAD v4
11g.2570664G=CA1948239560KCNQ1c.253G= (p.Val85=)
c.478-12771G= (n.478-12771G=)
c.514G= (p.Val172=)
c.133G= (p.Val45=)
c.124-12771G= (n.124-12771G=)
11g.2570664G>TCA379129863KCNQ1c.253G>T (p.Val85Leu)
c.478-12771G>T (n.478-12771G>T)
c.514G>T (p.Val172Leu)
c.133G>T (p.Val45Leu)
c.124-12771G>T (n.124-12771G>T)
11g.2570664_2570674dupCA2580082603KCNQ1c.253_263dup (p.Gly92SerfsTer?)
c.478-12771_478-12761dup (n.478-12771_478-12761dup)
c.514_524dup (p.Gly179SerfsTer?)
c.133_143dup (p.Gly52SerfsTer?)
c.124-12771_124-12761dup (n.124-12771_124-12761dup)
 ClinVar
11g.2570664_2570675delinsGTGGTCCGCCTCCA1948239562KCNQ1c.253_264delinsGTGGTCCGCCTC (p.Val85=)
c.478-12771_478-12760delinsGTGGTCCGCCTC (n.478-12771_478-12760delinsGTGGTCCGCCTC)
c.514_525delinsGTGGTCCGCCTC (p.Val172=)
c.133_144delinsGTGGTCCGCCTC (p.Val45=)
c.124-12771_124-12760delinsGTGGTCCGCCTC (n.124-12771_124-12760delinsGTGGTCCGCCTC)
11g.2570665T>ACA038152KCNQ1c.254T>A (p.Val85Glu)
c.478-12770T>A (n.478-12770T>A)
c.515T>A (p.Val172Glu)
c.134T>A (p.Val45Glu)
c.124-12770T>A (n.124-12770T>A)
 dbSNP ExAC gnomAD v2
11g.2570665T>CCA379129865KCNQ1c.254T>C (p.Val85Ala)
c.478-12770T>C (n.478-12770T>C)
c.515T>C (p.Val172Ala)
c.134T>C (p.Val45Ala)
c.124-12770T>C (n.124-12770T>C)
11g.2570665T>GCA379129864KCNQ1c.254T>G (p.Val85Gly)
c.478-12770T>G (n.478-12770T>G)
c.515T>G (p.Val172Gly)
c.134T>G (p.Val45Gly)
c.124-12770T>G (n.124-12770T>G)
11g.2570665T=CA1948239580KCNQ1c.254T= (p.Val85=)
c.478-12770T= (n.478-12770T=)
c.515T= (p.Val172=)
c.134T= (p.Val45=)
c.124-12770T= (n.124-12770T=)
11g.2570674_2570684dupCA10586242KCNQ1c.263_273dup (p.Gly92SerfsTer?)
c.478-12761_478-12751dup (n.478-12761_478-12751dup)
c.524_534dup (p.Gly179SerfsTer?)
c.143_153dup (p.Gly52SerfsTer?)
c.124-12761_124-12751dup (n.124-12761_124-12751dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2570674_2570684delCA5822077KCNQ1c.263_273del (p.Leu88ArgfsTer?)
c.478-12761_478-12751del (n.478-12761_478-12751del)
c.524_534del (p.Leu175ArgfsTer?)
c.143_153del (p.Leu48ArgfsTer?)
c.124-12761_124-12751del (n.124-12761_124-12751del)
 ClinVar dbSNP ExAC gnomAD v4
11g.2570666G>ACA472037795KCNQ1c.255G>A (p.Val85=)
c.478-12769G>A (n.478-12769G>A)
c.516G>A (p.Val172=)
c.135G>A (p.Val45=)
c.124-12769G>A (n.124-12769G>A)
11g.2570666G>CCA472037796KCNQ1c.255G>C (p.Val85=)
c.478-12769G>C (n.478-12769G>C)
c.516G>C (p.Val172=)
c.135G>C (p.Val45=)
c.124-12769G>C (n.124-12769G>C)
11g.2570666G=CA1948239587KCNQ1c.255G= (p.Val85=)
c.478-12769G= (n.478-12769G=)
c.516G= (p.Val172=)
c.135G= (p.Val45=)
c.124-12769G= (n.124-12769G=)
11g.2570666G>TCA038169KCNQ1c.255G>T (p.Val85=)
c.478-12769G>T (n.478-12769G>T)
c.516G>T (p.Val172=)
c.135G>T (p.Val45=)
c.124-12769G>T (n.124-12769G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570667G>ACA379129866KCNQ1c.256G>A (p.Val86Ile)
c.478-12768G>A (n.478-12768G>A)
c.517G>A (p.Val173Ile)
c.136G>A (p.Val46Ile)
c.124-12768G>A (n.124-12768G>A)
11g.2570667G>CCA379129867KCNQ1c.256G>C (p.Val86Leu)
c.478-12768G>C (n.478-12768G>C)
c.517G>C (p.Val173Leu)
c.136G>C (p.Val46Leu)
c.124-12768G>C (n.124-12768G>C)
11g.2570667G>TCA379129868KCNQ1c.256G>T (p.Val86Phe)
c.478-12768G>T (n.478-12768G>T)
c.517G>T (p.Val173Phe)
c.136G>T (p.Val46Phe)
c.124-12768G>T (n.124-12768G>T)
 gnomAD v4
11g.2570668T>ACA007313KCNQ1c.257T>A (p.Val86Asp)
c.478-12767T>A (n.478-12767T>A)
c.518T>A (p.Val173Asp)
c.137T>A (p.Val46Asp)
c.124-12767T>A (n.124-12767T>A)
 ClinVar dbSNP
11g.2570668T>CCA379129869KCNQ1c.257T>C (p.Val86Ala)
c.478-12767T>C (n.478-12767T>C)
c.518T>C (p.Val173Ala)
c.137T>C (p.Val46Ala)
c.124-12767T>C (n.124-12767T>C)
11g.2570668T>GCA379129870KCNQ1c.257T>G (p.Val86Gly)
c.478-12767T>G (n.478-12767T>G)
c.518T>G (p.Val173Gly)
c.137T>G (p.Val46Gly)
c.124-12767T>G (n.124-12767T>G)
11g.2570668T=CA1948239598KCNQ1c.257T= (p.Val86=)
c.478-12767T= (n.478-12767T=)
c.518T= (p.Val173=)
c.137T= (p.Val46=)
c.124-12767T= (n.124-12767T=)
11g.2570669C>ACA472037801KCNQ1c.258C>A (p.Val86=)
c.478-12766C>A (n.478-12766C>A)
c.519C>A (p.Val173=)
c.138C>A (p.Val46=)
c.124-12766C>A (n.124-12766C>A)
 ClinVar dbSNP
11g.2570669C=CA1948239606KCNQ1c.258C= (p.Val86=)
c.478-12766C= (n.478-12766C=)
c.519C= (p.Val173=)
c.138C= (p.Val46=)
c.124-12766C= (n.124-12766C=)
11g.2570669C>GCA472037802KCNQ1c.258C>G (p.Val86=)
c.478-12766C>G (n.478-12766C>G)
c.519C>G (p.Val173=)
c.138C>G (p.Val46=)
c.124-12766C>G (n.124-12766C>G)
11g.2570669C>TCA216309426KCNQ1c.258C>T (p.Val86=)
c.478-12766C>T (n.478-12766C>T)
c.519C>T (p.Val173=)
c.138C>T (p.Val46=)
c.124-12766C>T (n.124-12766C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.2570670C>ACA379129871KCNQ1c.259C>A (p.Arg87Ser)
c.478-12765C>A (n.478-12765C>A)
c.520C>A (p.Arg174Ser)
c.139C>A (p.Arg47Ser)
c.124-12765C>A (n.124-12765C>A)
11g.2570670C=CA1948239617KCNQ1c.259C= (p.Arg87=)
c.478-12765C= (n.478-12765C=)
c.520C= (p.Arg174=)
c.139C= (p.Arg47=)
c.124-12765C= (n.124-12765C=)
11g.2570670C>GCA379129872KCNQ1c.259C>G (p.Arg87Gly)
c.478-12765C>G (n.478-12765C>G)
c.520C>G (p.Arg174Gly)
c.139C>G (p.Arg47Gly)
c.124-12765C>G (n.124-12765C>G)
11g.2570670C>TCA007321KCNQ1c.259C>T (p.Arg87Cys)
c.478-12765C>T (n.478-12765C>T)
c.520C>T (p.Arg174Cys)
c.139C>T (p.Arg47Cys)
c.124-12765C>T (n.124-12765C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570671G>ACA007329KCNQ1c.260G>A (p.Arg87His)
c.478-12764G>A (n.478-12764G>A)
c.521G>A (p.Arg174His)
c.140G>A (p.Arg47His)
c.124-12764G>A (n.124-12764G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570671G>CCA007337KCNQ1c.260G>C (p.Arg87Pro)
c.478-12764G>C (n.478-12764G>C)
c.521G>C (p.Arg174Pro)
c.140G>C (p.Arg47Pro)
c.124-12764G>C (n.124-12764G>C)
 ClinVar dbSNP
11g.2570671G=CA1948239628KCNQ1c.260G= (p.Arg87=)
c.478-12764G= (n.478-12764G=)
c.521G= (p.Arg174=)
c.140G= (p.Arg47=)
c.124-12764G= (n.124-12764G=)
11g.2570671G>TCA007345KCNQ1c.260G>T (p.Arg87Leu)
c.478-12764G>T (n.478-12764G>T)
c.521G>T (p.Arg174Leu)
c.140G>T (p.Arg47Leu)
c.124-12764G>T (n.124-12764G>T)
 ClinVar dbSNP gnomAD v4
11g.2570672C>ACA472037805KCNQ1c.261C>A (p.Arg87=)
c.478-12763C>A (n.478-12763C>A)
c.522C>A (p.Arg174=)
c.141C>A (p.Arg47=)
c.124-12763C>A (n.124-12763C>A)
11g.2570672C>GCA472037803KCNQ1c.261C>G (p.Arg87=)
c.478-12763C>G (n.478-12763C>G)
c.522C>G (p.Arg174=)
c.141C>G (p.Arg47=)
c.124-12763C>G (n.124-12763C>G)
11g.2570672C>TCA472037804KCNQ1c.261C>T (p.Arg87=)
c.478-12763C>T (n.478-12763C>T)
c.522C>T (p.Arg174=)
c.141C>T (p.Arg47=)
c.124-12763C>T (n.124-12763C>T)
11g.2570673C>ACA379129873KCNQ1c.262C>A (p.Leu88Ile)
c.478-12762C>A (n.478-12762C>A)
c.523C>A (p.Leu175Ile)
c.142C>A (p.Leu48Ile)
c.124-12762C>A (n.124-12762C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.2570673C=CA1948239639KCNQ1c.262C= (p.Leu88=)
c.478-12762C= (n.478-12762C=)
c.523C= (p.Leu175=)
c.142C= (p.Leu48=)
c.124-12762C= (n.124-12762C=)
11g.2570673C>GCA379129874KCNQ1c.262C>G (p.Leu88Val)
c.478-12762C>G (n.478-12762C>G)
c.523C>G (p.Leu175Val)
c.142C>G (p.Leu48Val)
c.124-12762C>G (n.124-12762C>G)
11g.2570673C>TCA379129875KCNQ1c.262C>T (p.Leu88Phe)
c.478-12762C>T (n.478-12762C>T)
c.523C>T (p.Leu175Phe)
c.142C>T (p.Leu48Phe)
c.124-12762C>T (n.124-12762C>T)
 ClinVar dbSNP gnomAD v4
11g.2570674T>ACA379129876KCNQ1c.263T>A (p.Leu88His)
c.478-12761T>A (n.478-12761T>A)
c.524T>A (p.Leu175His)
c.143T>A (p.Leu48His)
c.124-12761T>A (n.124-12761T>A)
11g.2570674T>CCA379129877KCNQ1c.263T>C (p.Leu88Pro)
c.478-12761T>C (n.478-12761T>C)
c.524T>C (p.Leu175Pro)
c.143T>C (p.Leu48Pro)
c.124-12761T>C (n.124-12761T>C)
 ClinVar dbSNP
11g.2570674T>GCA379129878KCNQ1c.263T>G (p.Leu88Arg)
c.478-12761T>G (n.478-12761T>G)
c.524T>G (p.Leu175Arg)
c.143T>G (p.Leu48Arg)
c.124-12761T>G (n.124-12761T>G)
11g.2570674T=CA1948239644KCNQ1c.263T= (p.Leu88=)
c.478-12761T= (n.478-12761T=)
c.524T= (p.Leu175=)
c.143T= (p.Leu48=)
c.124-12761T= (n.124-12761T=)
11g.2570675C>ACA472037807KCNQ1c.264C>A (p.Leu88=)
c.478-12760C>A (n.478-12760C>A)
c.525C>A (p.Leu175=)
c.144C>A (p.Leu48=)
c.124-12760C>A (n.124-12760C>A)
11g.2570675C=CA1948239648KCNQ1c.264C= (p.Leu88=)
c.478-12760C= (n.478-12760C=)
c.525C= (p.Leu175=)
c.144C= (p.Leu48=)
c.124-12760C= (n.124-12760C=)
11g.2570675C>GCA472037808KCNQ1c.264C>G (p.Leu88=)
c.478-12760C>G (n.478-12760C>G)
c.525C>G (p.Leu175=)
c.144C>G (p.Leu48=)
c.124-12760C>G (n.124-12760C>G)
11g.2570675C>TCA038218KCNQ1c.264C>T (p.Leu88=)
c.478-12760C>T (n.478-12760C>T)
c.525C>T (p.Leu175=)
c.144C>T (p.Leu48=)
c.124-12760C>T (n.124-12760C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched