Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2445452C>ACA472416268KCNQ1c.93C>A (p.Thr31=)
c.354C>A (p.Thr118=)
n.131C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2445452C=CA1948161030KCNQ1c.93C= (p.Thr31=)
c.354C= (p.Thr118=)
n.131C=
11g.2445452C>GCA472416269KCNQ1c.93C>G (p.Thr31=)
c.354C>G (p.Thr118=)
n.131C>G
 dbSNP gnomAD v2 gnomAD v4
11g.2445452C>TCA035147KCNQ1c.93C>T (p.Thr31=)
c.354C>T (p.Thr118=)
n.131C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2445453G>ACA379117655KCNQ1c.94G>A (p.Gly32Ser)
c.355G>A (p.Gly119Ser)
c.1G>A (p.Gly1Ser)
n.132G>A
 ClinVar dbSNP gnomAD v4
11g.2445453G>CCA379117657KCNQ1c.94G>C (p.Gly32Arg)
c.355G>C (p.Gly119Arg)
c.1G>C (p.Gly1Arg)
n.132G>C
 ClinVar dbSNP gnomAD v4
11g.2445453G=CA1948161031KCNQ1c.94G= (p.Gly32=)
c.355G= (p.Gly119=)
c.1G= (p.Gly1=)
n.132G=
11g.2445453G>TCA379117658KCNQ1c.94G>T (p.Gly32Cys)
c.355G>T (p.Gly119Cys)
c.1G>T (p.Gly1Cys)
n.132G>T
 gnomAD v4
11g.2445453_2445454insCCA2580617509KCNQ1c.94_95insC (p.Gly32AlafsTer?)
c.355_356insC (p.Gly119AlafsTer?)
c.1_2insC (p.Gly1AlafsTer?)
n.132_133insC
 ClinVar
11g.2445454G>ACA006864KCNQ1c.95G>A (p.Gly32Asp)
c.356G>A (p.Gly119Asp)
c.2G>A (p.Gly1Asp)
n.133G>A
 ClinVar dbSNP gnomAD v4
11g.2445454G>CCA379117663KCNQ1c.95G>C (p.Gly32Ala)
c.356G>C (p.Gly119Ala)
c.2G>C (p.Gly1Ala)
n.133G>C
11g.2445454G=CA1948161032KCNQ1c.95G= (p.Gly32=)
c.356G= (p.Gly119=)
c.2G= (p.Gly1=)
n.133G=
11g.2445454G>TCA379117666KCNQ1c.95G>T (p.Gly32Val)
c.356G>T (p.Gly119Val)
c.2G>T (p.Gly1Val)
n.133G>T
 ClinVar dbSNP gnomAD v4
11g.2445455C>ACA216292955KCNQ1c.96C>A (p.Gly32=)
c.357C>A (p.Gly119=)
c.3C>A (p.Gly1=)
n.134C>A
 dbSNP
11g.2445455C=CA1948161033KCNQ1c.96C= (p.Gly32=)
c.357C= (p.Gly119=)
c.3C= (p.Gly1=)
n.134C=
11g.2445455C>GCA472416270KCNQ1c.96C>G (p.Gly32=)
c.357C>G (p.Gly119=)
c.3C>G (p.Gly1=)
n.134C>G
11g.2445455C>TCA472416271KCNQ1c.96C>T (p.Gly32=)
c.357C>T (p.Gly119=)
c.3C>T (p.Gly1=)
n.134C>T
 ClinVar dbSNP gnomAD v4
11g.2445455dupCA216292956KCNQ1c.96dup (p.Trp33LeufsTer?)
c.357dup (p.Trp120LeufsTer?)
c.3dup (p.Trp2LeufsTer?)
n.134dup
 dbSNP
11g.2445455_2445456insACA216292957KCNQ1c.96_97insA (p.Trp33MetfsTer?)
c.357_358insA (p.Trp120MetfsTer?)
c.3_4insA (p.Trp2MetfsTer?)
n.134_135insA
 dbSNP
11g.2445456T>ACA379117676KCNQ1c.97T>A (p.Trp33Arg)
c.358T>A (p.Trp120Arg)
c.4T>A (p.Trp2Arg)
n.135T>A
11g.2445456T>CCA379117678KCNQ1c.97T>C (p.Trp33Arg)
c.358T>C (p.Trp120Arg)
c.4T>C (p.Trp2Arg)
n.135T>C
11g.2445456T>GCA379117673KCNQ1c.97T>G (p.Trp33Gly)
c.358T>G (p.Trp120Gly)
c.4T>G (p.Trp2Gly)
n.135T>G
11g.2445456_2445457delinsTGCA1948161034KCNQ1c.97_98delinsTG (p.Trp33=)
c.358_359delinsTG (p.Trp120=)
c.4_5delinsTG (p.Trp2=)
n.135_136delinsTG
11g.2445457G>ACA379117688KCNQ1c.98G>A (p.Trp33Ter)
c.359G>A (p.Trp120Ter)
c.5G>A (p.Trp2Ter)
n.136G>A
 ClinVar dbSNP
11g.2445457G>CCA379117690KCNQ1c.98G>C (p.Trp33Ser)
c.359G>C (p.Trp120Ser)
c.5G>C (p.Trp2Ser)
n.136G>C
11g.2445457G>TCA379117693KCNQ1c.98G>T (p.Trp33Leu)
c.359G>T (p.Trp120Leu)
c.5G>T (p.Trp2Leu)
n.136G>T
 gnomAD v4
11g.2445458dupCA216292959KCNQ1c.99dup (p.Lys34GlufsTer?)
c.360dup (p.Lys121GlufsTer?)
c.6dup (p.Lys3GlufsTer?)
n.137dup
 dbSNP
11g.2445458delCA1948161035KCNQ1c.99del (p.Trp33Ter)
c.360del (p.Trp120Ter)
c.6del (p.Trp2Ter)
n.137del
 dbSNP
11g.2445458G>ACA379117696KCNQ1c.99G>A (p.Trp33Ter)
c.360G>A (p.Trp120Ter)
c.6G>A (p.Trp2Ter)
n.137G>A
11g.2445458G>CCA379117699KCNQ1c.99G>C (p.Trp33Cys)
c.360G>C (p.Trp120Cys)
c.6G>C (p.Trp2Cys)
n.137G>C
11g.2445458G=CA1948161036KCNQ1c.99G= (p.Trp33=)
c.360G= (p.Trp120=)
c.6G= (p.Trp2=)
n.137G=
11g.2445458G>TCA379117701KCNQ1c.99G>T (p.Trp33Cys)
c.360G>T (p.Trp120Cys)
c.6G>T (p.Trp2Cys)
n.137G>T
 gnomAD v4
11g.2445459_2445468delCA2573146066KCNQ1c.100_109del (p.Lys34PhefsTer?)
c.361_370del (p.Lys121PhefsTer?)
c.7_16del (p.Lys3PhefsTer?)
n.138_147del
 ClinVar dbSNP
11g.2445459A=CA1948161037KCNQ1c.100A= (p.Lys34=)
c.361A= (p.Lys121=)
c.7A= (p.Lys3=)
n.138A=
11g.2445459A>CCA379117703KCNQ1c.100A>C (p.Lys34Gln)
c.361A>C (p.Lys121Gln)
c.7A>C (p.Lys3Gln)
n.138A>C
11g.2445459A>GCA379117704KCNQ1c.100A>G (p.Lys34Glu)
c.361A>G (p.Lys121Glu)
c.7A>G (p.Lys3Glu)
n.138A>G
 dbSNP gnomAD v4
11g.2445459A>TCA379117707KCNQ1c.100A>T (p.Lys34Ter)
c.361A>T (p.Lys121Ter)
c.7A>T (p.Lys3Ter)
n.138A>T
11g.2445461dupCA006875KCNQ1c.102dup (p.Cys35MetfsTer?)
c.363dup (p.Cys122MetfsTer?)
c.9dup (p.Cys4MetfsTer?)
n.140dup
 ClinVar dbSNP
11g.2445460A>CCA379117716KCNQ1c.101A>C (p.Lys34Thr)
c.362A>C (p.Lys121Thr)
c.8A>C (p.Lys3Thr)
n.139A>C
11g.2445460A>GCA379117713KCNQ1c.101A>G (p.Lys34Arg)
c.362A>G (p.Lys121Arg)
c.8A>G (p.Lys3Arg)
n.139A>G
11g.2445460A>TCA379117711KCNQ1c.101A>T (p.Lys34Ile)
c.362A>T (p.Lys121Ile)
c.8A>T (p.Lys3Ile)
n.139A>T
11g.2445461A=CA1948161038KCNQ1c.102A= (p.Lys34=)
c.363A= (p.Lys121=)
c.9A= (p.Lys3=)
n.140A=
11g.2445461A>CCA379117720KCNQ1c.102A>C (p.Lys34Asn)
c.363A>C (p.Lys121Asn)
c.9A>C (p.Lys3Asn)
n.140A>C
11g.2445461A>GCA472416272KCNQ1c.102A>G (p.Lys34=)
c.363A>G (p.Lys121=)
c.9A>G (p.Lys3=)
n.140A>G
 ClinVar dbSNP
11g.2445461A>TCA379117721KCNQ1c.102A>T (p.Lys34Asn)
c.363A>T (p.Lys121Asn)
c.9A>T (p.Lys3Asn)
n.140A>T
11g.2445462T>ACA379117728KCNQ1c.103T>A (p.Cys35Ser)
c.364T>A (p.Cys122Ser)
c.10T>A (p.Cys4Ser)
n.141T>A
11g.2445462T>CCA379117730KCNQ1c.103T>C (p.Cys35Arg)
c.364T>C (p.Cys122Arg)
c.10T>C (p.Cys4Arg)
n.141T>C
11g.2445462T>GCA379117733KCNQ1c.103T>G (p.Cys35Gly)
c.364T>G (p.Cys122Gly)
c.10T>G (p.Cys4Gly)
n.141T>G
 gnomAD v4
11g.2445462dupCA277170KCNQ1c.103dup (p.Cys35LeufsTer?)
c.364dup (p.Cys122LeufsTer?)
c.10dup (p.Cys4LeufsTer?)
n.141dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2445463G>ACA006889KCNQ1c.104G>A (p.Cys35Tyr)
c.365G>A (p.Cys122Tyr)
c.11G>A (p.Cys4Tyr)
n.142G>A
 ClinVar dbSNP

Number of alleles fetched