Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2527966_2527980delCA2612002633KCNQ1c.164_178del (p.Leu55_Glu59del)
c.425_439del (p.Leu142_Glu146del)
c.44_58del (p.Leu15_Glu19del)
c.71_85del (p.Leu24_Glu28del)
 gnomAD v4
11g.2527965_2527966delinsCTCA1948196759KCNQ1n.221_222delinsCT
c.163_164delinsCT (p.Leu55=)
c.424_425delinsCT (p.Leu142=)
c.43_44delinsCT (p.Leu15=)
c.70_71delinsCT (p.Leu24=)
n.293_294delinsCT
c.214_215delinsCT (p.Leu72=)
11g.2527966delCA007054KCNQ1n.222del
c.164del (p.Leu55ArgfsTer?)
c.425del (p.Leu142ArgfsTer?)
c.44del (p.Leu15ArgfsTer?)
c.71del (p.Leu24ArgfsTer?)
n.294del
c.215del (p.Leu72ArgfsTer?)
 ClinVar dbSNP
11g.2527966T>ACA379121391KCNQ1n.222T>A
c.164T>A (p.Leu55Gln)
c.425T>A (p.Leu142Gln)
c.44T>A (p.Leu15Gln)
c.71T>A (p.Leu24Gln)
n.294T>A
c.215T>A (p.Leu72Gln)
11g.2527966T>CCA379121401KCNQ1n.222T>C
c.164T>C (p.Leu55Pro)
c.425T>C (p.Leu142Pro)
c.44T>C (p.Leu15Pro)
c.71T>C (p.Leu24Pro)
n.294T>C
c.215T>C (p.Leu72Pro)
11g.2527966T>GCA379121404KCNQ1n.222T>G
c.164T>G (p.Leu55Arg)
c.425T>G (p.Leu142Arg)
c.44T>G (p.Leu15Arg)
c.71T>G (p.Leu24Arg)
n.294T>G
c.215T>G (p.Leu72Arg)
11g.2527967G>ACA472038237KCNQ1n.223G>A
c.165G>A (p.Leu55=)
c.426G>A (p.Leu142=)
c.45G>A (p.Leu15=)
c.72G>A (p.Leu24=)
n.295G>A
c.216G>A (p.Leu72=)
 ClinVar
11g.2527967G>CCA472038239KCNQ1n.223G>C
c.165G>C (p.Leu55=)
c.426G>C (p.Leu142=)
c.45G>C (p.Leu15=)
c.72G>C (p.Leu24=)
n.295G>C
c.216G>C (p.Leu72=)
 ClinVar gnomAD v4
11g.2527967G>TCA472038238KCNQ1n.223G>T
c.165G>T (p.Leu55=)
c.426G>T (p.Leu142=)
c.45G>T (p.Leu15=)
c.72G>T (p.Leu24=)
n.295G>T
c.216G>T (p.Leu72=)
11g.2527968T>ACA379121409KCNQ1n.224T>A
c.166T>A (p.Ser56Thr)
c.427T>A (p.Ser143Thr)
c.46T>A (p.Ser16Thr)
c.73T>A (p.Ser25Thr)
n.296T>A
c.217T>A (p.Ser73Thr)
11g.2527968T>CCA379121411KCNQ1n.224T>C
c.166T>C (p.Ser56Pro)
c.427T>C (p.Ser143Pro)
c.46T>C (p.Ser16Pro)
c.73T>C (p.Ser25Pro)
n.296T>C
c.217T>C (p.Ser73Pro)
11g.2527968T>GCA379121413KCNQ1n.224T>G
c.166T>G (p.Ser56Ala)
c.427T>G (p.Ser143Ala)
c.46T>G (p.Ser16Ala)
c.73T>G (p.Ser25Ala)
n.296T>G
c.217T>G (p.Ser73Ala)
11g.2527969C>ACA379121417KCNQ1n.225C>A
c.167C>A (p.Ser56Tyr)
c.428C>A (p.Ser143Tyr)
c.47C>A (p.Ser16Tyr)
c.74C>A (p.Ser25Tyr)
n.297C>A
c.218C>A (p.Ser73Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.2527969C=CA1948196760KCNQ1n.225C=
c.167C= (p.Ser56=)
c.428C= (p.Ser143=)
c.47C= (p.Ser16=)
c.74C= (p.Ser25=)
n.297C=
c.218C= (p.Ser73=)
11g.2527969C>GCA379121419KCNQ1n.225C>G
c.167C>G (p.Ser56Cys)
c.428C>G (p.Ser143Cys)
c.47C>G (p.Ser16Cys)
c.74C>G (p.Ser25Cys)
n.297C>G
c.218C>G (p.Ser73Cys)
11g.2527969C>TCA007061KCNQ1n.225C>T
c.167C>T (p.Ser56Phe)
c.428C>T (p.Ser143Phe)
c.47C>T (p.Ser16Phe)
c.74C>T (p.Ser25Phe)
n.297C>T
c.218C>T (p.Ser73Phe)
 ClinVar dbSNP
11g.2527970C>ACA472038240KCNQ1n.226C>A
c.168C>A (p.Ser56=)
c.429C>A (p.Ser143=)
c.48C>A (p.Ser16=)
c.75C>A (p.Ser25=)
n.298C>A
c.219C>A (p.Ser73=)
11g.2527970C>GCA472038241KCNQ1n.226C>G
c.168C>G (p.Ser56=)
c.429C>G (p.Ser143=)
c.48C>G (p.Ser16=)
c.75C>G (p.Ser25=)
n.298C>G
c.219C>G (p.Ser73=)
11g.2527970C>TCA472038242KCNQ1n.226C>T
c.168C>T (p.Ser56=)
c.429C>T (p.Ser143=)
c.48C>T (p.Ser16=)
c.75C>T (p.Ser25=)
n.298C>T
c.219C>T (p.Ser73=)
11g.2527971A=CA1948196761KCNQ1n.227A=
c.169A= (p.Thr57=)
c.430A= (p.Thr144=)
c.49A= (p.Thr17=)
c.76A= (p.Thr26=)
n.299A=
c.220A= (p.Thr74=)
11g.2527971A>CCA379121423KCNQ1n.227A>C
c.169A>C (p.Thr57Pro)
c.430A>C (p.Thr144Pro)
c.49A>C (p.Thr17Pro)
c.76A>C (p.Thr26Pro)
n.299A>C
c.220A>C (p.Thr74Pro)
11g.2527971A>GCA007072KCNQ1n.227A>G
c.169A>G (p.Thr57Ala)
c.430A>G (p.Thr144Ala)
c.49A>G (p.Thr17Ala)
c.76A>G (p.Thr26Ala)
n.299A>G
c.220A>G (p.Thr74Ala)
 ClinVar dbSNP gnomAD v4
11g.2527971A>TCA379121424KCNQ1n.227A>T
c.169A>T (p.Thr57Ser)
c.430A>T (p.Thr144Ser)
c.49A>T (p.Thr17Ser)
c.76A>T (p.Thr26Ser)
n.299A>T
c.220A>T (p.Thr74Ser)
11g.2527972C>ACA379121427KCNQ1n.228C>A
c.170C>A (p.Thr57Asn)
c.431C>A (p.Thr144Asn)
c.50C>A (p.Thr17Asn)
c.77C>A (p.Thr26Asn)
n.300C>A
c.221C>A (p.Thr74Asn)
11g.2527972C>GCA379121433KCNQ1n.228C>G
c.170C>G (p.Thr57Ser)
c.431C>G (p.Thr144Ser)
c.50C>G (p.Thr17Ser)
c.77C>G (p.Thr26Ser)
n.300C>G
c.221C>G (p.Thr74Ser)
11g.2527972C>TCA379121429KCNQ1n.228C>T
c.170C>T (p.Thr57Ile)
c.431C>T (p.Thr144Ile)
c.50C>T (p.Thr17Ile)
c.77C>T (p.Thr26Ile)
n.300C>T
c.221C>T (p.Thr74Ile)
11g.2527973delCA2695212957KCNQ1n.229del
c.171del (p.Ile58SerfsTer?)
c.432del (p.Ile145SerfsTer?)
c.51del (p.Ile18SerfsTer?)
c.78del (p.Ile27SerfsTer?)
n.301del
c.222del (p.Thr74=)
11g.2527973C>ACA472038243KCNQ1n.229C>A
c.171C>A (p.Thr57=)
c.432C>A (p.Thr144=)
c.51C>A (p.Thr17=)
c.78C>A (p.Thr26=)
n.301C>A
c.222C>A (p.Thr74=)
11g.2527973C>GCA472038244KCNQ1n.229C>G
c.171C>G (p.Thr57=)
c.432C>G (p.Thr144=)
c.51C>G (p.Thr17=)
c.78C>G (p.Thr26=)
n.301C>G
c.222C>G (p.Thr74=)
11g.2527973C>TCA472038245KCNQ1n.229C>T
c.171C>T (p.Thr57=)
c.432C>T (p.Thr144=)
c.51C>T (p.Thr17=)
c.78C>T (p.Thr26=)
n.301C>T
c.222C>T (p.Thr74=)
11g.2527974A=CA1948196762KCNQ1c.172A= (p.Ile58=)
c.433A= (p.Ile145=)
c.52A= (p.Ile18=)
c.79A= (p.Ile27=)
n.302A=
11g.2527974A>CCA379121448KCNQ1c.172A>C (p.Ile58Leu)
c.433A>C (p.Ile145Leu)
c.52A>C (p.Ile18Leu)
c.79A>C (p.Ile27Leu)
n.302A>C
 dbSNP
11g.2527974A>GCA379121450KCNQ1c.172A>G (p.Ile58Val)
c.433A>G (p.Ile145Val)
c.52A>G (p.Ile18Val)
c.79A>G (p.Ile27Val)
n.302A>G
11g.2527974A>TCA379121451KCNQ1c.172A>T (p.Ile58Phe)
c.433A>T (p.Ile145Phe)
c.52A>T (p.Ile18Phe)
c.79A>T (p.Ile27Phe)
n.302A>T
11g.2527975T>ACA379121453KCNQ1c.173T>A (p.Ile58Asn)
c.434T>A (p.Ile145Asn)
c.53T>A (p.Ile18Asn)
c.80T>A (p.Ile27Asn)
n.303T>A
11g.2527975T>CCA379121456KCNQ1c.173T>C (p.Ile58Thr)
c.434T>C (p.Ile145Thr)
c.53T>C (p.Ile18Thr)
c.80T>C (p.Ile27Thr)
n.303T>C
 gnomAD v4
11g.2527975T>GCA379121459KCNQ1c.173T>G (p.Ile58Ser)
c.434T>G (p.Ile145Ser)
c.53T>G (p.Ile18Ser)
c.80T>G (p.Ile27Ser)
n.303T>G
11g.2527976C>ACA472038246KCNQ1c.174C>A (p.Ile58=)
c.435C>A (p.Ile145=)
c.54C>A (p.Ile18=)
c.81C>A (p.Ile27=)
n.304C>A
 gnomAD v4
11g.2527976C=CA1948196763KCNQ1c.174C= (p.Ile58=)
c.435C= (p.Ile145=)
c.54C= (p.Ile18=)
c.81C= (p.Ile27=)
n.304C=
11g.2527976C>GCA379121463KCNQ1c.174C>G (p.Ile58Met)
c.435C>G (p.Ile145Met)
c.54C>G (p.Ile18Met)
c.81C>G (p.Ile27Met)
n.304C>G
11g.2527976C>TCA007082KCNQ1c.174C>T (p.Ile58=)
c.435C>T (p.Ile145=)
c.54C>T (p.Ile18=)
c.81C>T (p.Ile27=)
n.304C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2527977G>ACA007090KCNQ1c.175G>A (p.Glu59Lys)
c.436G>A (p.Glu146Lys)
c.55G>A (p.Glu19Lys)
c.82G>A (p.Glu28Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.2527977G>CCA379121473KCNQ1c.175G>C (p.Glu59Gln)
c.436G>C (p.Glu146Gln)
c.55G>C (p.Glu19Gln)
c.82G>C (p.Glu28Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.2527977G=CA1948196764KCNQ1c.175G= (p.Glu59=)
c.436G= (p.Glu146=)
c.55G= (p.Glu19=)
c.82G= (p.Glu28=)
11g.2527977G>TCA379121484KCNQ1c.175G>T (p.Glu59Ter)
c.436G>T (p.Glu146Ter)
c.55G>T (p.Glu19Ter)
c.82G>T (p.Glu28Ter)
11g.2527978A=CA1948196765KCNQ1c.176A= (p.Glu59=)
c.437A= (p.Glu146=)
c.56A= (p.Glu19=)
c.83A= (p.Glu28=)
11g.2527978A>CCA379121891KCNQ1c.176A>C (p.Glu59Ala)
c.437A>C (p.Glu146Ala)
c.56A>C (p.Glu19Ala)
c.83A>C (p.Glu28Ala)
11g.2527978A>GCA16619306KCNQ1c.176A>G (p.Glu59Gly)
c.437A>G (p.Glu146Gly)
c.56A>G (p.Glu19Gly)
c.83A>G (p.Glu28Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2527978A>TCA379121893KCNQ1c.176A>T (p.Glu59Val)
c.437A>T (p.Glu146Val)
c.56A>T (p.Glu19Val)
c.83A>T (p.Glu28Val)
11g.2527979G>ACA472038254KCNQ1c.177G>A (p.Glu59=)
c.438G>A (p.Glu146=)
c.57G>A (p.Glu19=)
c.84G>A (p.Glu28=)
 gnomAD v4

Number of alleles fetched