Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2570643_2570645dupCA16613558KCNQ1c.232_234dup (p.Val78_Phe79insVal)
c.478-12792_478-12790dup (n.478-12792_478-12790dup)
c.493_495dup (p.Val165_Phe166insVal)
c.112_114dup (p.Val38_Phe39insVal)
c.124-12792_124-12790dup (n.124-12792_124-12790dup)
 ClinVar dbSNP
11g.2570639G>ACA472037750KCNQ1c.228G>A (p.Leu76=)
c.478-12796G>A (n.478-12796G>A)
c.489G>A (p.Leu163=)
c.108G>A (p.Leu36=)
c.124-12796G>A (n.124-12796G>A)
11g.2570639G>CCA472037751KCNQ1c.228G>C (p.Leu76=)
c.478-12796G>C (n.478-12796G>C)
c.489G>C (p.Leu163=)
c.108G>C (p.Leu36=)
c.124-12796G>C (n.124-12796G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.2570639G=CA1948239367KCNQ1c.228G= (p.Leu76=)
c.478-12796G= (n.478-12796G=)
c.489G= (p.Leu163=)
c.108G= (p.Leu36=)
c.124-12796G= (n.124-12796G=)
11g.2570639G>TCA472037752KCNQ1c.228G>T (p.Leu76=)
c.478-12796G>T (n.478-12796G>T)
c.489G>T (p.Leu163=)
c.108G>T (p.Leu36=)
c.124-12796G>T (n.124-12796G>T)
11g.2570639_2570640insAGCA2612002337KCNQ1c.228_229insAG (p.Val77ArgfsTer?)
c.478-12796_478-12795insAG (n.478-12796_478-12795insAG)
c.489_490insAG (p.Val164ArgfsTer?)
c.108_109insAG (p.Val37ArgfsTer?)
c.124-12796_124-12795insAG (n.124-12796_124-12795insAG)
 gnomAD v4
11g.2570640G>ACA379129815KCNQ1c.229G>A (p.Val77Met)
c.478-12795G>A (n.478-12795G>A)
c.490G>A (p.Val164Met)
c.109G>A (p.Val37Met)
c.124-12795G>A (n.124-12795G>A)
11g.2570640G>CCA379129814KCNQ1c.229G>C (p.Val77Leu)
c.478-12795G>C (n.478-12795G>C)
c.490G>C (p.Val164Leu)
c.109G>C (p.Val37Leu)
c.124-12795G>C (n.124-12795G>C)
11g.2570640G>TCA379129813KCNQ1c.229G>T (p.Val77Leu)
c.478-12795G>T (n.478-12795G>T)
c.490G>T (p.Val164Leu)
c.109G>T (p.Val37Leu)
c.124-12795G>T (n.124-12795G>T)
 gnomAD v4
11g.2570641T>ACA379129816KCNQ1c.230T>A (p.Val77Glu)
c.478-12794T>A (n.478-12794T>A)
c.491T>A (p.Val164Glu)
c.110T>A (p.Val37Glu)
c.124-12794T>A (n.124-12794T>A)
11g.2570641T>CCA379129817KCNQ1c.230T>C (p.Val77Ala)
c.478-12794T>C (n.478-12794T>C)
c.491T>C (p.Val164Ala)
c.110T>C (p.Val37Ala)
c.124-12794T>C (n.124-12794T>C)
 ClinVar dbSNP COSMIC COSMIC
11g.2570641T>GCA379129818KCNQ1c.230T>G (p.Val77Gly)
c.478-12794T>G (n.478-12794T>G)
c.491T>G (p.Val164Gly)
c.110T>G (p.Val37Gly)
c.124-12794T>G (n.124-12794T>G)
11g.2570641T=CA1948239374KCNQ1c.230T= (p.Val77=)
c.478-12794T= (n.478-12794T=)
c.491T= (p.Val164=)
c.110T= (p.Val37=)
c.124-12794T= (n.124-12794T=)
11g.2570642G>ACA472037754KCNQ1c.231G>A (p.Val77=)
c.478-12793G>A (n.478-12793G>A)
c.492G>A (p.Val164=)
c.111G>A (p.Val37=)
c.124-12793G>A (n.124-12793G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2570642G>CCA472037756KCNQ1c.231G>C (p.Val77=)
c.478-12793G>C (n.478-12793G>C)
c.492G>C (p.Val164=)
c.111G>C (p.Val37=)
c.124-12793G>C (n.124-12793G>C)
11g.2570642G=CA1948239383KCNQ1c.231G= (p.Val77=)
c.478-12793G= (n.478-12793G=)
c.492G= (p.Val164=)
c.111G= (p.Val37=)
c.124-12793G= (n.124-12793G=)
11g.2570642G>TCA472037757KCNQ1c.231G>T (p.Val77=)
c.478-12793G>T (n.478-12793G>T)
c.492G>T (p.Val164=)
c.111G>T (p.Val37=)
c.124-12793G>T (n.124-12793G>T)
 gnomAD v4
11g.2570643G>ACA379129819KCNQ1c.232G>A (p.Val78Met)
c.478-12792G>A (n.478-12792G>A)
c.493G>A (p.Val165Met)
c.112G>A (p.Val38Met)
c.124-12792G>A (n.124-12792G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2570643G>CCA379129820KCNQ1c.232G>C (p.Val78Leu)
c.478-12792G>C (n.478-12792G>C)
c.493G>C (p.Val165Leu)
c.112G>C (p.Val38Leu)
c.124-12792G>C (n.124-12792G>C)
11g.2570643G=CA1948239392KCNQ1c.232G= (p.Val78=)
c.478-12792G= (n.478-12792G=)
c.493G= (p.Val165=)
c.112G= (p.Val38=)
c.124-12792G= (n.124-12792G=)
11g.2570643G>TCA379129821KCNQ1c.232G>T (p.Val78Leu)
c.478-12792G>T (n.478-12792G>T)
c.493G>T (p.Val165Leu)
c.112G>T (p.Val38Leu)
c.124-12792G>T (n.124-12792G>T)
11g.2570643_2570646delinsGTGTCA1948239396KCNQ1c.232_235delinsGTGT (p.Val78=)
c.478-12792_478-12789delinsGTGT (n.478-12792_478-12789delinsGTGT)
c.493_496delinsGTGT (p.Val165=)
c.112_115delinsGTGT (p.Val38=)
c.124-12792_124-12789delinsGTGT (n.124-12792_124-12789delinsGTGT)
11g.2570644T>ACA379129822KCNQ1c.233T>A (p.Val78Glu)
c.478-12791T>A (n.478-12791T>A)
c.494T>A (p.Val165Glu)
c.113T>A (p.Val38Glu)
c.124-12791T>A (n.124-12791T>A)
11g.2570644T>CCA379129823KCNQ1c.233T>C (p.Val78Ala)
c.478-12791T>C (n.478-12791T>C)
c.494T>C (p.Val165Ala)
c.113T>C (p.Val38Ala)
c.124-12791T>C (n.124-12791T>C)
 ClinVar dbSNP
11g.2570644T>GCA379129824KCNQ1c.233T>G (p.Val78Gly)
c.478-12791T>G (n.478-12791T>G)
c.494T>G (p.Val165Gly)
c.113T>G (p.Val38Gly)
c.124-12791T>G (n.124-12791T>G)
11g.2570644T=CA1948239410KCNQ1c.233T= (p.Val78=)
c.478-12791T= (n.478-12791T=)
c.494T= (p.Val165=)
c.113T= (p.Val38=)
c.124-12791T= (n.124-12791T=)
11g.2570645_2570647delCA915947932KCNQ1c.234_236del (p.Phe79del)
c.478-12790_478-12788del (n.478-12790_478-12788del)
c.495_497del (p.Phe166del)
c.114_116del (p.Phe39del)
c.124-12790_124-12788del (n.124-12790_124-12788del)
 ClinVar dbSNP
11g.2570645G>ACA472037758KCNQ1c.234G>A (p.Val78=)
c.478-12790G>A (n.478-12790G>A)
c.495G>A (p.Val165=)
c.114G>A (p.Val38=)
c.124-12790G>A (n.124-12790G>A)
 ClinVar gnomAD v4
11g.2570645G>CCA472037759KCNQ1c.234G>C (p.Val78=)
c.478-12790G>C (n.478-12790G>C)
c.495G>C (p.Val165=)
c.114G>C (p.Val38=)
c.124-12790G>C (n.124-12790G>C)
11g.2570645G>TCA472037760KCNQ1c.234G>T (p.Val78=)
c.478-12790G>T (n.478-12790G>T)
c.495G>T (p.Val165=)
c.114G>T (p.Val38=)
c.124-12790G>T (n.124-12790G>T)
11g.2570645_2570648delinsGTTCCA1948239416KCNQ1c.234_237delinsGTTC (p.Val78=)
c.478-12790_478-12787delinsGTTC (n.478-12790_478-12787delinsGTTC)
c.495_498delinsGTTC (p.Val165=)
c.114_117delinsGTTC (p.Val38=)
c.124-12790_124-12787delinsGTTC (n.124-12790_124-12787delinsGTTC)
11g.2570646T>ACA379129825KCNQ1c.235T>A (p.Phe79Ile)
c.478-12789T>A (n.478-12789T>A)
c.496T>A (p.Phe166Ile)
c.115T>A (p.Phe39Ile)
c.124-12789T>A (n.124-12789T>A)
11g.2570646T>CCA379129826KCNQ1c.235T>C (p.Phe79Leu)
c.478-12789T>C (n.478-12789T>C)
c.496T>C (p.Phe166Leu)
c.115T>C (p.Phe39Leu)
c.124-12789T>C (n.124-12789T>C)
11g.2570646T>GCA038022KCNQ1c.235T>G (p.Phe79Val)
c.478-12789T>G (n.478-12789T>G)
c.496T>G (p.Phe166Val)
c.115T>G (p.Phe39Val)
c.124-12789T>G (n.124-12789T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570646T=CA1948239428KCNQ1c.235T= (p.Phe79=)
c.478-12789T= (n.478-12789T=)
c.496T= (p.Phe166=)
c.115T= (p.Phe39=)
c.124-12789T= (n.124-12789T=)
11g.2570649_2570651delCA007239KCNQ1c.238_240del (p.Phe80del)
c.478-12786_478-12784del (n.478-12786_478-12784del)
c.499_501del (p.Phe167del)
c.118_120del (p.Phe40del)
c.124-12786_124-12784del (n.124-12786_124-12784del)
 ClinVar dbSNP
11g.2570647T>ACA379129829KCNQ1c.236T>A (p.Phe79Tyr)
c.478-12788T>A (n.478-12788T>A)
c.497T>A (p.Phe166Tyr)
c.116T>A (p.Phe39Tyr)
c.124-12788T>A (n.124-12788T>A)
11g.2570647T>CCA379129828KCNQ1c.236T>C (p.Phe79Ser)
c.478-12788T>C (n.478-12788T>C)
c.497T>C (p.Phe166Ser)
c.116T>C (p.Phe39Ser)
c.124-12788T>C (n.124-12788T>C)
11g.2570647T>GCA379129827KCNQ1c.236T>G (p.Phe79Cys)
c.478-12788T>G (n.478-12788T>G)
c.497T>G (p.Phe166Cys)
c.116T>G (p.Phe39Cys)
c.124-12788T>G (n.124-12788T>G)
11g.2570648C>ACA379129830KCNQ1c.237C>A (p.Phe79Leu)
c.478-12787C>A (n.478-12787C>A)
c.498C>A (p.Phe166Leu)
c.117C>A (p.Phe39Leu)
c.124-12787C>A (n.124-12787C>A)
11g.2570648C=CA1948239438KCNQ1c.237C= (p.Phe79=)
c.478-12787C= (n.478-12787C=)
c.498C= (p.Phe166=)
c.117C= (p.Phe39=)
c.124-12787C= (n.124-12787C=)
11g.2570648C>GCA379129831KCNQ1c.237C>G (p.Phe79Leu)
c.478-12787C>G (n.478-12787C>G)
c.498C>G (p.Phe166Leu)
c.117C>G (p.Phe39Leu)
c.124-12787C>G (n.124-12787C>G)
11g.2570648C>TCA472037765KCNQ1c.237C>T (p.Phe79=)
c.478-12787C>T (n.478-12787C>T)
c.498C>T (p.Phe166=)
c.117C>T (p.Phe39=)
c.124-12787C>T (n.124-12787C>T)
 ClinVar dbSNP COSMIC COSMIC
11g.2570649T>ACA379129832KCNQ1c.238T>A (p.Phe80Ile)
c.478-12786T>A (n.478-12786T>A)
c.499T>A (p.Phe167Ile)
c.118T>A (p.Phe40Ile)
c.124-12786T>A (n.124-12786T>A)
11g.2570649T>CCA379129833KCNQ1c.238T>C (p.Phe80Leu)
c.478-12786T>C (n.478-12786T>C)
c.499T>C (p.Phe167Leu)
c.118T>C (p.Phe40Leu)
c.124-12786T>C (n.124-12786T>C)
11g.2570649T>GCA379129834KCNQ1c.238T>G (p.Phe80Val)
c.478-12786T>G (n.478-12786T>G)
c.499T>G (p.Phe167Val)
c.118T>G (p.Phe40Val)
c.124-12786T>G (n.124-12786T>G)
11g.2570649_2570652delinsTTCGCA1948239447KCNQ1c.238_241delinsTTCG (p.Phe80=)
c.478-12786_478-12783delinsTTCG (n.478-12786_478-12783delinsTTCG)
c.499_502delinsTTCG (p.Phe167=)
c.118_121delinsTTCG (p.Phe40=)
c.124-12786_124-12783delinsTTCG (n.124-12786_124-12783delinsTTCG)
11g.2570650T>ACA379129835KCNQ1c.239T>A (p.Phe80Tyr)
c.478-12785T>A (n.478-12785T>A)
c.500T>A (p.Phe167Tyr)
c.119T>A (p.Phe40Tyr)
c.124-12785T>A (n.124-12785T>A)
 gnomAD v4
11g.2570650T>CCA379129836KCNQ1c.239T>C (p.Phe80Ser)
c.478-12785T>C (n.478-12785T>C)
c.500T>C (p.Phe167Ser)
c.119T>C (p.Phe40Ser)
c.124-12785T>C (n.124-12785T>C)
 gnomAD v4
11g.2570650T>GCA379129837KCNQ1c.239T>G (p.Phe80Cys)
c.478-12785T>G (n.478-12785T>G)
c.500T>G (p.Phe167Cys)
c.119T>G (p.Phe40Cys)
c.124-12785T>G (n.124-12785T>G)
11g.2570650_2570652delCA007247KCNQ1c.239_241del (p.Phe80_Gly81delinsTrp)
c.478-12785_478-12783del (n.478-12785_478-12783del)
c.500_502del (p.Phe167_Gly168delinsTrp)
c.119_121del (p.Phe40_Gly41delinsTrp)
c.124-12785_124-12783del (n.124-12785_124-12783del)
 ClinVar dbSNP
11g.2570651C>ACA379129838KCNQ1c.240C>A (p.Phe80Leu)
c.478-12784C>A (n.478-12784C>A)
c.501C>A (p.Phe167Leu)
c.120C>A (p.Phe40Leu)
c.124-12784C>A (n.124-12784C>A)
11g.2570651C=CA1948239465KCNQ1c.240C= (p.Phe80=)
c.478-12784C= (n.478-12784C=)
c.501C= (p.Phe167=)
c.120C= (p.Phe40=)
c.124-12784C= (n.124-12784C=)
11g.2570651C>GCA379129839KCNQ1c.240C>G (p.Phe80Leu)
c.478-12784C>G (n.478-12784C>G)
c.501C>G (p.Phe167Leu)
c.120C>G (p.Phe40Leu)
c.124-12784C>G (n.124-12784C>G)
11g.2570651C>TCA038037KCNQ1c.240C>T (p.Phe80=)
c.478-12784C>T (n.478-12784C>T)
c.501C>T (p.Phe167=)
c.120C>T (p.Phe40=)
c.124-12784C>T (n.124-12784C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2570651_2570652delinsCGCA1948239469KCNQ1c.240_241delinsCG (p.Phe80=)
c.478-12784_478-12783delinsCG (n.478-12784_478-12783delinsCG)
c.501_502delinsCG (p.Phe167=)
c.120_121delinsCG (p.Phe40=)
c.124-12784_124-12783delinsCG (n.124-12784_124-12783delinsCG)
11g.2570652G>ACA007263KCNQ1c.241G>A (p.Gly81Arg)
c.478-12783G>A (n.478-12783G>A)
c.502G>A (p.Gly168Arg)
c.121G>A (p.Gly41Arg)
c.124-12783G>A (n.124-12783G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2570652G>CCA007272KCNQ1c.241G>C (p.Gly81Arg)
c.478-12783G>C (n.478-12783G>C)
c.502G>C (p.Gly168Arg)
c.121G>C (p.Gly41Arg)
c.124-12783G>C (n.124-12783G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2570652G=CA1948239488KCNQ1c.241G= (p.Gly81=)
c.478-12783G= (n.478-12783G=)
c.502G= (p.Gly168=)
c.121G= (p.Gly41=)
c.124-12783G= (n.124-12783G=)
11g.2570652G>TCA379129840KCNQ1c.241G>T (p.Gly81Trp)
c.478-12783G>T (n.478-12783G>T)
c.502G>T (p.Gly168Trp)
c.121G>T (p.Gly41Trp)
c.124-12783G>T (n.124-12783G>T)
 gnomAD v4
11g.2570654delCA007282KCNQ1c.243del (p.Thr82ArgfsTer?)
c.478-12781del (n.478-12781del)
c.504del (p.Thr169ArgfsTer?)
c.123del (p.Thr42ArgfsTer?)
c.124-12781del (n.124-12781del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2570653G>ACA379129841KCNQ1c.242G>A (p.Gly81Glu)
c.478-12782G>A (n.478-12782G>A)
c.503G>A (p.Gly168Glu)
c.122G>A (p.Gly41Glu)
c.124-12782G>A (n.124-12782G>A)
 ClinVar
11g.2570653G>CCA379129842KCNQ1c.242G>C (p.Gly81Ala)
c.478-12782G>C (n.478-12782G>C)
c.503G>C (p.Gly168Ala)
c.122G>C (p.Gly41Ala)
c.124-12782G>C (n.124-12782G>C)
11g.2570653G>TCA379129843KCNQ1c.242G>T (p.Gly81Val)
c.478-12782G>T (n.478-12782G>T)
c.503G>T (p.Gly168Val)
c.122G>T (p.Gly41Val)
c.124-12782G>T (n.124-12782G>T)
11g.2570654G>ACA472037776KCNQ1c.243G>A (p.Gly81=)
c.478-12781G>A (n.478-12781G>A)
c.504G>A (p.Gly168=)
c.123G>A (p.Gly41=)
c.124-12781G>A (n.124-12781G>A)
 ClinVar gnomAD v4
11g.2570654G>CCA472037779KCNQ1c.243G>C (p.Gly81=)
c.478-12781G>C (n.478-12781G>C)
c.504G>C (p.Gly168=)
c.123G>C (p.Gly41=)
c.124-12781G>C (n.124-12781G>C)
11g.2570654G>TCA472037781KCNQ1c.243G>T (p.Gly81=)
c.478-12781G>T (n.478-12781G>T)
c.504G>T (p.Gly168=)
c.123G>T (p.Gly41=)
c.124-12781G>T (n.124-12781G>T)
11g.2570655A>CCA379129844KCNQ1c.244A>C (p.Thr82Pro)
c.478-12780A>C (n.478-12780A>C)
c.505A>C (p.Thr169Pro)
c.124A>C (p.Thr42Pro)
c.124-12780A>C (n.124-12780A>C)
11g.2570655A>GCA379129845KCNQ1c.244A>G (p.Thr82Ala)
c.478-12780A>G (n.478-12780A>G)
c.505A>G (p.Thr169Ala)
c.124A>G (p.Thr42Ala)
c.124-12780A>G (n.124-12780A>G)
 gnomAD v4
11g.2570655A>TCA379129846KCNQ1c.244A>T (p.Thr82Ser)
c.478-12780A>T (n.478-12780A>T)
c.505A>T (p.Thr169Ser)
c.124A>T (p.Thr42Ser)
c.124-12780A>T (n.124-12780A>T)
11g.2570656C>ACA379129847KCNQ1c.245C>A (p.Thr82Lys)
c.478-12779C>A (n.478-12779C>A)
c.506C>A (p.Thr169Lys)
c.125C>A (p.Thr42Lys)
c.124-12779C>A (n.124-12779C>A)
11g.2570656C=CA1948239501KCNQ1c.245C= (p.Thr82=)
c.478-12779C= (n.478-12779C=)
c.506C= (p.Thr169=)
c.125C= (p.Thr42=)
c.124-12779C= (n.124-12779C=)
11g.2570656C>GCA007290KCNQ1c.245C>G (p.Thr82Arg)
c.478-12779C>G (n.478-12779C>G)
c.506C>G (p.Thr169Arg)
c.125C>G (p.Thr42Arg)
c.124-12779C>G (n.124-12779C>G)
 ClinVar dbSNP
11g.2570656C>TCA038071KCNQ1c.245C>T (p.Thr82Met)
c.478-12779C>T (n.478-12779C>T)
c.506C>T (p.Thr169Met)
c.125C>T (p.Thr42Met)
c.124-12779C>T (n.124-12779C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570657G>ACA038081KCNQ1c.246G>A (p.Thr82=)
c.478-12778G>A (n.478-12778G>A)
c.507G>A (p.Thr169=)
c.126G>A (p.Thr42=)
c.124-12778G>A (n.124-12778G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570657G>CCA472037785KCNQ1c.246G>C (p.Thr82=)
c.478-12778G>C (n.478-12778G>C)
c.507G>C (p.Thr169=)
c.126G>C (p.Thr42=)
c.124-12778G>C (n.124-12778G>C)
11g.2570657G=CA1948239511KCNQ1c.246G= (p.Thr82=)
c.478-12778G= (n.478-12778G=)
c.507G= (p.Thr169=)
c.126G= (p.Thr42=)
c.124-12778G= (n.124-12778G=)
11g.2570657G>TCA472037786KCNQ1c.246G>T (p.Thr82=)
c.478-12778G>T (n.478-12778G>T)
c.507G>T (p.Thr169=)
c.126G>T (p.Thr42=)
c.124-12778G>T (n.124-12778G>T)
11g.2570658G>ACA379129848KCNQ1c.247G>A (p.Glu83Lys)
c.478-12777G>A (n.478-12777G>A)
c.508G>A (p.Glu170Lys)
c.127G>A (p.Glu43Lys)
c.124-12777G>A (n.124-12777G>A)
 COSMIC COSMIC
11g.2570658G>CCA379129849KCNQ1c.247G>C (p.Glu83Gln)
c.478-12777G>C (n.478-12777G>C)
c.508G>C (p.Glu170Gln)
c.127G>C (p.Glu43Gln)
c.124-12777G>C (n.124-12777G>C)
11g.2570658G>TCA379129850KCNQ1c.247G>T (p.Glu83Ter)
c.478-12777G>T (n.478-12777G>T)
c.508G>T (p.Glu170Ter)
c.127G>T (p.Glu43Ter)
c.124-12777G>T (n.124-12777G>T)
 gnomAD v4
11g.2570659A>CCA379129853KCNQ1c.248A>C (p.Glu83Ala)
c.478-12776A>C (n.478-12776A>C)
c.509A>C (p.Glu170Ala)
c.128A>C (p.Glu43Ala)
c.124-12776A>C (n.124-12776A>C)
11g.2570659A>GCA379129851KCNQ1c.248A>G (p.Glu83Gly)
c.478-12776A>G (n.478-12776A>G)
c.509A>G (p.Glu170Gly)
c.128A>G (p.Glu43Gly)
c.124-12776A>G (n.124-12776A>G)
 ClinVar
11g.2570659A>TCA379129852KCNQ1c.248A>T (p.Glu83Val)
c.478-12776A>T (n.478-12776A>T)
c.509A>T (p.Glu170Val)
c.128A>T (p.Glu43Val)
c.124-12776A>T (n.124-12776A>T)
11g.2570659_2570660delinsAGCA1948239517KCNQ1c.248_249delinsAG (p.Glu83=)
c.478-12776_478-12775delinsAG (n.478-12776_478-12775delinsAG)
c.509_510delinsAG (p.Glu170=)
c.128_129delinsAG (p.Glu43=)
c.124-12776_124-12775delinsAG (n.124-12776_124-12775delinsAG)
11g.2570660delCA658797566KCNQ1c.249del (p.Glu83AspfsTer?)
c.478-12775del (n.478-12775del)
c.510del (p.Glu170AspfsTer?)
c.129del (p.Glu43AspfsTer?)
c.124-12775del (n.124-12775del)
 ClinVar dbSNP
11g.2570660G>ACA472037787KCNQ1c.249G>A (p.Glu83=)
c.478-12775G>A (n.478-12775G>A)
c.510G>A (p.Glu170=)
c.129G>A (p.Glu43=)
c.124-12775G>A (n.124-12775G>A)
11g.2570660G>CCA379129854KCNQ1c.249G>C (p.Glu83Asp)
c.478-12775G>C (n.478-12775G>C)
c.510G>C (p.Glu170Asp)
c.129G>C (p.Glu43Asp)
c.124-12775G>C (n.124-12775G>C)
11g.2570660G>TCA379129855KCNQ1c.249G>T (p.Glu83Asp)
c.478-12775G>T (n.478-12775G>T)
c.510G>T (p.Glu170Asp)
c.129G>T (p.Glu43Asp)
c.124-12775G>T (n.124-12775G>T)
11g.2570661T>ACA379129856KCNQ1c.250T>A (p.Tyr84Asn)
c.478-12774T>A (n.478-12774T>A)
c.511T>A (p.Tyr171Asn)
c.130T>A (p.Tyr44Asn)
c.124-12774T>A (n.124-12774T>A)
11g.2570661T>CCA379129857KCNQ1c.250T>C (p.Tyr84His)
c.478-12774T>C (n.478-12774T>C)
c.511T>C (p.Tyr171His)
c.130T>C (p.Tyr44His)
c.124-12774T>C (n.124-12774T>C)
 ClinVar dbSNP
11g.2570661T>GCA379129858KCNQ1c.250T>G (p.Tyr84Asp)
c.478-12774T>G (n.478-12774T>G)
c.511T>G (p.Tyr171Asp)
c.130T>G (p.Tyr44Asp)
c.124-12774T>G (n.124-12774T>G)
11g.2570661T=CA1948239525KCNQ1c.250T= (p.Tyr84=)
c.478-12774T= (n.478-12774T=)
c.511T= (p.Tyr171=)
c.130T= (p.Tyr44=)
c.124-12774T= (n.124-12774T=)
11g.2570662A>CCA379129861KCNQ1c.251A>C (p.Tyr84Ser)
c.478-12773A>C (n.478-12773A>C)
c.512A>C (p.Tyr171Ser)
c.131A>C (p.Tyr44Ser)
c.124-12773A>C (n.124-12773A>C)
11g.2570662A>GCA379129860KCNQ1c.251A>G (p.Tyr84Cys)
c.478-12773A>G (n.478-12773A>G)
c.512A>G (p.Tyr171Cys)
c.131A>G (p.Tyr44Cys)
c.124-12773A>G (n.124-12773A>G)
11g.2570662A>TCA379129859KCNQ1c.251A>T (p.Tyr84Phe)
c.478-12773A>T (n.478-12773A>T)
c.512A>T (p.Tyr171Phe)
c.131A>T (p.Tyr44Phe)
c.124-12773A>T (n.124-12773A>T)
11g.2570662_2570663delinsACCA1948239528KCNQ1c.251_252delinsAC (p.Tyr84=)
c.478-12773_478-12772delinsAC (n.478-12773_478-12772delinsAC)
c.512_513delinsAC (p.Tyr171=)
c.131_132delinsAC (p.Tyr44=)
c.124-12773_124-12772delinsAC (n.124-12773_124-12772delinsAC)
11g.2570663delCA915947933KCNQ1c.252del (p.Tyr84Ter)
c.478-12772del (n.478-12772del)
c.513del (p.Tyr171Ter)
c.132del (p.Tyr44Ter)
c.124-12772del (n.124-12772del)
 ClinVar dbSNP
11g.2570663C>ACA10588516KCNQ1c.252C>A (p.Tyr84Ter)
c.478-12772C>A (n.478-12772C>A)
c.513C>A (p.Tyr171Ter)
c.132C>A (p.Tyr44Ter)
c.124-12772C>A (n.124-12772C>A)
 ClinVar dbSNP gnomAD v4
11g.2570663C=CA1948239540KCNQ1c.252C= (p.Tyr84=)
c.478-12772C= (n.478-12772C=)
c.513C= (p.Tyr171=)
c.132C= (p.Tyr44=)
c.124-12772C= (n.124-12772C=)
11g.2570663C>GCA007295KCNQ1c.252C>G (p.Tyr84Ter)
c.478-12772C>G (n.478-12772C>G)
c.513C>G (p.Tyr171Ter)
c.132C>G (p.Tyr44Ter)
c.124-12772C>G (n.124-12772C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570663C>TCA007303KCNQ1c.252C>T (p.Tyr84=)
c.478-12772C>T (n.478-12772C>T)
c.513C>T (p.Tyr171=)
c.132C>T (p.Tyr44=)
c.124-12772C>T (n.124-12772C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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
11g.2570676T>ACA379129879KCNQ1c.265T>A (p.Trp89Arg)
c.478-12759T>A (n.478-12759T>A)
c.526T>A (p.Trp176Arg)
c.145T>A (p.Trp49Arg)
c.124-12759T>A (n.124-12759T>A)
11g.2570676T>CCA379129880KCNQ1c.265T>C (p.Trp89Arg)
c.478-12759T>C (n.478-12759T>C)
c.526T>C (p.Trp176Arg)
c.145T>C (p.Trp49Arg)
c.124-12759T>C (n.124-12759T>C)
 ClinVar dbSNP gnomAD v4
11g.2570676T>GCA379129881KCNQ1c.265T>G (p.Trp89Gly)
c.478-12759T>G (n.478-12759T>G)
c.526T>G (p.Trp176Gly)
c.145T>G (p.Trp49Gly)
c.124-12759T>G (n.124-12759T>G)
11g.2570676T=CA1948239653KCNQ1c.265T= (p.Trp89=)
c.478-12759T= (n.478-12759T=)
c.526T= (p.Trp176=)
c.145T= (p.Trp49=)
c.124-12759T= (n.124-12759T=)
11g.2570677G>ACA379129882KCNQ1c.266G>A (p.Trp89Ter)
c.478-12758G>A (n.478-12758G>A)
c.527G>A (p.Trp176Ter)
c.146G>A (p.Trp49Ter)
c.124-12758G>A (n.124-12758G>A)
11g.2570677G>CCA379129883KCNQ1c.266G>C (p.Trp89Ser)
c.478-12758G>C (n.478-12758G>C)
c.527G>C (p.Trp176Ser)
c.146G>C (p.Trp49Ser)
c.124-12758G>C (n.124-12758G>C)
 ClinVar COSMIC COSMIC
11g.2570677G>TCA379129884KCNQ1c.266G>T (p.Trp89Leu)
c.478-12758G>T (n.478-12758G>T)
c.527G>T (p.Trp176Leu)
c.146G>T (p.Trp49Leu)
c.124-12758G>T (n.124-12758G>T)
 gnomAD v4
11g.2570678G>ACA10581157KCNQ1c.267G>A (p.Trp89Ter)
c.478-12757G>A (n.478-12757G>A)
c.528G>A (p.Trp176Ter)
c.147G>A (p.Trp49Ter)
c.124-12757G>A (n.124-12757G>A)
 ClinVar dbSNP
11g.2570678G>CCA379129886KCNQ1c.267G>C (p.Trp89Cys)
c.478-12757G>C (n.478-12757G>C)
c.528G>C (p.Trp176Cys)
c.147G>C (p.Trp49Cys)
c.124-12757G>C (n.124-12757G>C)
11g.2570678G=CA1948239659KCNQ1c.267G= (p.Trp89=)
c.478-12757G= (n.478-12757G=)
c.528G= (p.Trp176=)
c.147G= (p.Trp49=)
c.124-12757G= (n.124-12757G=)
11g.2570678G>TCA379129885KCNQ1c.267G>T (p.Trp89Cys)
c.478-12757G>T (n.478-12757G>T)
c.528G>T (p.Trp176Cys)
c.147G>T (p.Trp49Cys)
c.124-12757G>T (n.124-12757G>T)
11g.2570679T>ACA379129887KCNQ1c.268T>A (p.Ser90Thr)
c.478-12756T>A (n.478-12756T>A)
c.529T>A (p.Ser177Thr)
c.148T>A (p.Ser50Thr)
c.124-12756T>A (n.124-12756T>A)
11g.2570679T>CCA379129888KCNQ1c.268T>C (p.Ser90Pro)
c.478-12756T>C (n.478-12756T>C)
c.529T>C (p.Ser177Pro)
c.148T>C (p.Ser50Pro)
c.124-12756T>C (n.124-12756T>C)
11g.2570679T>GCA379129889KCNQ1c.268T>G (p.Ser90Ala)
c.478-12756T>G (n.478-12756T>G)
c.529T>G (p.Ser177Ala)
c.148T>G (p.Ser50Ala)
c.124-12756T>G (n.124-12756T>G)
 gnomAD v4
11g.2570680C>ACA379129890KCNQ1c.269C>A (p.Ser90Tyr)
c.478-12755C>A (n.478-12755C>A)
c.530C>A (p.Ser177Tyr)
c.149C>A (p.Ser50Tyr)
c.124-12755C>A (n.124-12755C>A)
 gnomAD v4 COSMIC
11g.2570680C=CA1948239666KCNQ1c.269C= (p.Ser90=)
c.478-12755C= (n.478-12755C=)
c.530C= (p.Ser177=)
c.149C= (p.Ser50=)
c.124-12755C= (n.124-12755C=)
11g.2570680C>GCA379129891KCNQ1c.269C>G (p.Ser90Cys)
c.478-12755C>G (n.478-12755C>G)
c.530C>G (p.Ser177Cys)
c.149C>G (p.Ser50Cys)
c.124-12755C>G (n.124-12755C>G)
 dbSNP
11g.2570680C>TCA379129892KCNQ1c.269C>T (p.Ser90Phe)
c.478-12755C>T (n.478-12755C>T)
c.530C>T (p.Ser177Phe)
c.149C>T (p.Ser50Phe)
c.124-12755C>T (n.124-12755C>T)
11g.2570681C>ACA472037817KCNQ1c.270C>A (p.Ser90=)
c.478-12754C>A (n.478-12754C>A)
c.531C>A (p.Ser177=)
c.150C>A (p.Ser50=)
c.124-12754C>A (n.124-12754C>A)
11g.2570681C=CA1948239672KCNQ1c.270C= (p.Ser90=)
c.478-12754C= (n.478-12754C=)
c.531C= (p.Ser177=)
c.150C= (p.Ser50=)
c.124-12754C= (n.124-12754C=)
11g.2570681C>GCA472037816KCNQ1c.270C>G (p.Ser90=)
c.478-12754C>G (n.478-12754C>G)
c.531C>G (p.Ser177=)
c.150C>G (p.Ser50=)
c.124-12754C>G (n.124-12754C>G)
 ClinVar dbSNP
11g.2570681C>TCA038237KCNQ1c.270C>T (p.Ser90=)
c.478-12754C>T (n.478-12754C>T)
c.531C>T (p.Ser177=)
c.150C>T (p.Ser50=)
c.124-12754C>T (n.124-12754C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2570682G>ACA007353KCNQ1c.271G>A (p.Ala91Thr)
c.478-12753G>A (n.478-12753G>A)
c.532G>A (p.Ala178Thr)
c.151G>A (p.Ala51Thr)
c.124-12753G>A (n.124-12753G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570682G>CCA007364KCNQ1c.271G>C (p.Ala91Pro)
c.478-12753G>C (n.478-12753G>C)
c.532G>C (p.Ala178Pro)
c.151G>C (p.Ala51Pro)
c.124-12753G>C (n.124-12753G>C)
 ClinVar dbSNP
11g.2570682G=CA1948239685KCNQ1c.271G= (p.Ala91=)
c.478-12753G= (n.478-12753G=)
c.532G= (p.Ala178=)
c.151G= (p.Ala51=)
c.124-12753G= (n.124-12753G=)
11g.2570682G>TCA379129893KCNQ1c.271G>T (p.Ala91Ser)
c.478-12753G>T (n.478-12753G>T)
c.532G>T (p.Ala178Ser)
c.151G>T (p.Ala51Ser)
c.124-12753G>T (n.124-12753G>T)
 gnomAD v4
11g.2570682_2570683delinsGCCA1948239682KCNQ1c.271_272delinsGC (p.Ala91=)
c.478-12753_478-12752delinsGC (n.478-12753_478-12752delinsGC)
c.532_533delinsGC (p.Ala178=)
c.151_152delinsGC (p.Ala51=)
c.124-12753_124-12752delinsGC (n.124-12753_124-12752delinsGC)
11g.2570683C>ACA379129894KCNQ1c.272C>A (p.Ala91Asp)
c.478-12752C>A (n.478-12752C>A)
c.533C>A (p.Ala178Asp)
c.152C>A (p.Ala51Asp)
c.124-12752C>A (n.124-12752C>A)
11g.2570683C>GCA379129895KCNQ1c.272C>G (p.Ala91Gly)
c.478-12752C>G (n.478-12752C>G)
c.533C>G (p.Ala178Gly)
c.152C>G (p.Ala51Gly)
c.124-12752C>G (n.124-12752C>G)
11g.2570683C>TCA379129896KCNQ1c.272C>T (p.Ala91Val)
c.478-12752C>T (n.478-12752C>T)
c.533C>T (p.Ala178Val)
c.152C>T (p.Ala51Val)
c.124-12752C>T (n.124-12752C>T)
11g.2570683delinsGGCA252606KCNQ1c.272delinsGG (p.Ala91GlyfsTer?)
c.478-12752delinsGG (n.478-12752delinsGG)
c.533delinsGG (p.Ala178GlyfsTer?)
c.152delinsGG (p.Ala51GlyfsTer?)
c.124-12752delinsGG (n.124-12752delinsGG)
 ClinVar dbSNP
11g.2570684C>ACA472037823KCNQ1c.273C>A (p.Ala91=)
c.478-12751C>A (n.478-12751C>A)
c.534C>A (p.Ala178=)
c.153C>A (p.Ala51=)
c.124-12751C>A (n.124-12751C>A)
11g.2570684C=CA1948239696KCNQ1c.273C= (p.Ala91=)
c.478-12751C= (n.478-12751C=)
c.534C= (p.Ala178=)
c.153C= (p.Ala51=)
c.124-12751C= (n.124-12751C=)
11g.2570684C>GCA472037824KCNQ1c.273C>G (p.Ala91=)
c.478-12751C>G (n.478-12751C>G)
c.534C>G (p.Ala178=)
c.153C>G (p.Ala51=)
c.124-12751C>G (n.124-12751C>G)
11g.2570684C>TCA472037825KCNQ1c.273C>T (p.Ala91=)
c.478-12751C>T (n.478-12751C>T)
c.534C>T (p.Ala178=)
c.153C>T (p.Ala51=)
c.124-12751C>T (n.124-12751C>T)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.2570685G>ACA007379KCNQ1c.274G>A (p.Gly92Ser)
c.478-12750G>A (n.478-12750G>A)
c.535G>A (p.Gly179Ser)
c.154G>A (p.Gly52Ser)
c.124-12750G>A (n.124-12750G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2570685G>CCA379129898KCNQ1c.274G>C (p.Gly92Arg)
c.478-12750G>C (n.478-12750G>C)
c.535G>C (p.Gly179Arg)
c.154G>C (p.Gly52Arg)
c.124-12750G>C (n.124-12750G>C)
 ClinVar
11g.2570685G=CA1948239705KCNQ1c.274G= (p.Gly92=)
c.478-12750G= (n.478-12750G=)
c.535G= (p.Gly179=)
c.154G= (p.Gly52=)
c.124-12750G= (n.124-12750G=)
11g.2570685G>TCA379129897KCNQ1c.274G>T (p.Gly92Cys)
c.478-12750G>T (n.478-12750G>T)
c.535G>T (p.Gly179Cys)
c.154G>T (p.Gly52Cys)
c.124-12750G>T (n.124-12750G>T)
11g.2570686G>ACA379129899KCNQ1c.275G>A (p.Gly92Asp)
c.478-12749G>A (n.478-12749G>A)
c.536G>A (p.Gly179Asp)
c.155G>A (p.Gly52Asp)
c.124-12749G>A (n.124-12749G>A)
11g.2570686G>CCA038267KCNQ1c.275G>C (p.Gly92Ala)
c.478-12749G>C (n.478-12749G>C)
c.536G>C (p.Gly179Ala)
c.155G>C (p.Gly52Ala)
c.124-12749G>C (n.124-12749G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570686G=CA1948239714KCNQ1c.275G= (p.Gly92=)
c.478-12749G= (n.478-12749G=)
c.536G= (p.Gly179=)
c.155G= (p.Gly52=)
c.124-12749G= (n.124-12749G=)
11g.2570686G>TCA379129900KCNQ1c.275G>T (p.Gly92Val)
c.478-12749G>T (n.478-12749G>T)
c.536G>T (p.Gly179Val)
c.155G>T (p.Gly52Val)
c.124-12749G>T (n.124-12749G>T)
 dbSNP gnomAD v4
11g.2570687C>ACA472037826KCNQ1c.276C>A (p.Gly92=)
c.478-12748C>A (n.478-12748C>A)
c.537C>A (p.Gly179=)
c.156C>A (p.Gly52=)
c.124-12748C>A (n.124-12748C>A)
11g.2570687C>GCA472037828KCNQ1c.276C>G (p.Gly92=)
c.478-12748C>G (n.478-12748C>G)
c.537C>G (p.Gly179=)
c.156C>G (p.Gly52=)
c.124-12748C>G (n.124-12748C>G)
11g.2570687C>TCA472037827KCNQ1c.276C>T (p.Gly92=)
c.478-12748C>T (n.478-12748C>T)
c.537C>T (p.Gly179=)
c.156C>T (p.Gly52=)
c.124-12748C>T (n.124-12748C>T)
11g.2570688T>ACA379129901KCNQ1c.277T>A (p.Cys93Ser)
c.478-12747T>A (n.478-12747T>A)
c.538T>A (p.Cys180Ser)
c.157T>A (p.Cys53Ser)
c.124-12747T>A (n.124-12747T>A)
11g.2570688T>CCA379129902KCNQ1c.277T>C (p.Cys93Arg)
c.478-12747T>C (n.478-12747T>C)
c.538T>C (p.Cys180Arg)
c.157T>C (p.Cys53Arg)
c.124-12747T>C (n.124-12747T>C)
11g.2570688T>GCA379129903KCNQ1c.277T>G (p.Cys93Gly)
c.478-12747T>G (n.478-12747T>G)
c.538T>G (p.Cys180Gly)
c.157T>G (p.Cys53Gly)
c.124-12747T>G (n.124-12747T>G)
11g.2570689G>ACA379129906KCNQ1c.278G>A (p.Cys93Tyr)
c.478-12746G>A (n.478-12746G>A)
c.539G>A (p.Cys180Tyr)
c.158G>A (p.Cys53Tyr)
c.124-12746G>A (n.124-12746G>A)
11g.2570689G>CCA379129904KCNQ1c.278G>C (p.Cys93Ser)
c.478-12746G>C (n.478-12746G>C)
c.539G>C (p.Cys180Ser)
c.158G>C (p.Cys53Ser)
c.124-12746G>C (n.124-12746G>C)
11g.2570689G>TCA379129905KCNQ1c.278G>T (p.Cys93Phe)
c.478-12746G>T (n.478-12746G>T)
c.539G>T (p.Cys180Phe)
c.158G>T (p.Cys53Phe)
c.124-12746G>T (n.124-12746G>T)
11g.2570690C>ACA379129907KCNQ1c.279C>A (p.Cys93Ter)
c.478-12745C>A (n.478-12745C>A)
c.540C>A (p.Cys180Ter)
c.159C>A (p.Cys53Ter)
c.124-12745C>A (n.124-12745C>A)
11g.2570690C=CA1948239720KCNQ1c.279C= (p.Cys93=)
c.478-12745C= (n.478-12745C=)
c.540C= (p.Cys180=)
c.159C= (p.Cys53=)
c.124-12745C= (n.124-12745C=)
11g.2570690C>GCA379129908KCNQ1c.279C>G (p.Cys93Trp)
c.478-12745C>G (n.478-12745C>G)
c.540C>G (p.Cys180Trp)
c.159C>G (p.Cys53Trp)
c.124-12745C>G (n.124-12745C>G)
11g.2570690C>TCA472037832KCNQ1c.279C>T (p.Cys93=)
c.478-12745C>T (n.478-12745C>T)
c.540C>T (p.Cys180=)
c.159C>T (p.Cys53=)
c.124-12745C>T (n.124-12745C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.2570691C>ACA379129909KCNQ1c.280C>A (p.Arg94Ser)
c.478-12744C>A (n.478-12744C>A)
c.541C>A (p.Arg181Ser)
c.160C>A (p.Arg54Ser)
c.124-12744C>A (n.124-12744C>A)
11g.2570691C=CA1948239729KCNQ1c.280C= (p.Arg94=)
c.478-12744C= (n.478-12744C=)
c.541C= (p.Arg181=)
c.160C= (p.Arg54=)
c.124-12744C= (n.124-12744C=)
11g.2570691C>GCA379129910KCNQ1c.280C>G (p.Arg94Gly)
c.478-12744C>G (n.478-12744C>G)
c.541C>G (p.Arg181Gly)
c.160C>G (p.Arg54Gly)
c.124-12744C>G (n.124-12744C>G)
11g.2570691C>TCA007388KCNQ1c.280C>T (p.Arg94Cys)
c.478-12744C>T (n.478-12744C>T)
c.541C>T (p.Arg181Cys)
c.160C>T (p.Arg54Cys)
c.124-12744C>T (n.124-12744C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570692G>ACA379129911KCNQ1c.281G>A (p.Arg94His)
c.478-12743G>A (n.478-12743G>A)
c.542G>A (p.Arg181His)
c.161G>A (p.Arg54His)
c.124-12743G>A (n.124-12743G>A)
 ClinVar gnomAD v4
11g.2570692G>CCA379129913KCNQ1c.281G>C (p.Arg94Pro)
c.478-12743G>C (n.478-12743G>C)
c.542G>C (p.Arg181Pro)
c.161G>C (p.Arg54Pro)
c.124-12743G>C (n.124-12743G>C)
 dbSNP
11g.2570692G=CA1948239733KCNQ1c.281G= (p.Arg94=)
c.478-12743G= (n.478-12743G=)
c.542G= (p.Arg181=)
c.161G= (p.Arg54=)
c.124-12743G= (n.124-12743G=)
11g.2570692G>TCA379129912KCNQ1c.281G>T (p.Arg94Leu)
c.478-12743G>T (n.478-12743G>T)
c.542G>T (p.Arg181Leu)
c.161G>T (p.Arg54Leu)
c.124-12743G>T (n.124-12743G>T)
11g.2570693C>ACA472037836KCNQ1c.282C>A (p.Arg94=)
c.478-12742C>A (n.478-12742C>A)
c.543C>A (p.Arg181=)
c.162C>A (p.Arg54=)
c.124-12742C>A (n.124-12742C>A)
11g.2570693C=CA1948239738KCNQ1c.282C= (p.Arg94=)
c.478-12742C= (n.478-12742C=)
c.543C= (p.Arg181=)
c.162C= (p.Arg54=)
c.124-12742C= (n.124-12742C=)
11g.2570693C>GCA472037837KCNQ1c.282C>G (p.Arg94=)
c.478-12742C>G (n.478-12742C>G)
c.543C>G (p.Arg181=)
c.162C>G (p.Arg54=)
c.124-12742C>G (n.124-12742C>G)
11g.2570693C>TCA472037838KCNQ1c.282C>T (p.Arg94=)
c.478-12742C>T (n.478-12742C>T)
c.543C>T (p.Arg181=)
c.162C>T (p.Arg54=)
c.124-12742C>T (n.124-12742C>T)
 dbSNP
11g.2570694A>CCA379129914KCNQ1c.283A>C (p.Ser95Arg)
c.478-12741A>C (n.478-12741A>C)
c.544A>C (p.Ser182Arg)
c.163A>C (p.Ser55Arg)
c.124-12741A>C (n.124-12741A>C)
11g.2570694A>GCA379129915KCNQ1c.283A>G (p.Ser95Gly)
c.478-12741A>G (n.478-12741A>G)
c.544A>G (p.Ser182Gly)
c.163A>G (p.Ser55Gly)
c.124-12741A>G (n.124-12741A>G)
11g.2570694A>TCA379129916KCNQ1c.283A>T (p.Ser95Cys)
c.478-12741A>T (n.478-12741A>T)
c.544A>T (p.Ser182Cys)
c.163A>T (p.Ser55Cys)
c.124-12741A>T (n.124-12741A>T)
11g.2570695G>ACA379129917KCNQ1c.284G>A (p.Ser95Asn)
c.478-12740G>A (n.478-12740G>A)
c.545G>A (p.Ser182Asn)
c.164G>A (p.Ser55Asn)
c.124-12740G>A (n.124-12740G>A)
11g.2570695G>CCA379129918KCNQ1c.284G>C (p.Ser95Thr)
c.478-12740G>C (n.478-12740G>C)
c.545G>C (p.Ser182Thr)
c.164G>C (p.Ser55Thr)
c.124-12740G>C (n.124-12740G>C)
11g.2570695G>TCA379129919KCNQ1c.284G>T (p.Ser95Ile)
c.478-12740G>T (n.478-12740G>T)
c.545G>T (p.Ser182Ile)
c.164G>T (p.Ser55Ile)
c.124-12740G>T (n.124-12740G>T)
11g.2570696C>ACA379129920KCNQ1c.285C>A (p.Ser95Arg)
c.478-12739C>A (n.478-12739C>A)
c.546C>A (p.Ser182Arg)
c.165C>A (p.Ser55Arg)
c.124-12739C>A (n.124-12739C>A)
 dbSNP gnomAD v4
11g.2570696C>GCA379129921KCNQ1c.285C>G (p.Ser95Arg)
c.478-12739C>G (n.478-12739C>G)
c.546C>G (p.Ser182Arg)
c.165C>G (p.Ser55Arg)
c.124-12739C>G (n.124-12739C>G)
11g.2570696C>TCA472037842KCNQ1c.285C>T (p.Ser95=)
c.478-12739C>T (n.478-12739C>T)
c.546C>T (p.Ser182=)
c.165C>T (p.Ser55=)
c.124-12739C>T (n.124-12739C>T)
 ClinVar dbSNP
11g.2570697A>CCA379129922KCNQ1c.286A>C (p.Lys96Gln)
c.478-12738A>C (n.478-12738A>C)
c.547A>C (p.Lys183Gln)
c.166A>C (p.Lys56Gln)
c.124-12738A>C (n.124-12738A>C)
11g.2570697A>GCA379129923KCNQ1c.286A>G (p.Lys96Glu)
c.478-12738A>G (n.478-12738A>G)
c.547A>G (p.Lys183Glu)
c.166A>G (p.Lys56Glu)
c.124-12738A>G (n.124-12738A>G)
11g.2570697A>TCA379129924KCNQ1c.286A>T (p.Lys96Ter)
c.478-12738A>T (n.478-12738A>T)
c.547A>T (p.Lys183Ter)
c.166A>T (p.Lys56Ter)
c.124-12738A>T (n.124-12738A>T)
11g.2570698A=CA1948239742KCNQ1c.287A= (p.Lys96=)
c.478-12737A= (n.478-12737A=)
c.548A= (p.Lys183=)
c.167A= (p.Lys56=)
c.124-12737A= (n.124-12737A=)
11g.2570698A>CCA379129925KCNQ1c.287A>C (p.Lys96Thr)
c.478-12737A>C (n.478-12737A>C)
c.548A>C (p.Lys183Thr)
c.167A>C (p.Lys56Thr)
c.124-12737A>C (n.124-12737A>C)
11g.2570698A>GCA007396KCNQ1c.287A>G (p.Lys96Arg)
c.478-12737A>G (n.478-12737A>G)
c.548A>G (p.Lys183Arg)
c.167A>G (p.Lys56Arg)
c.124-12737A>G (n.124-12737A>G)
 ClinVar dbSNP
11g.2570698A>TCA379129926KCNQ1c.287A>T (p.Lys96Met)
c.478-12737A>T (n.478-12737A>T)
c.548A>T (p.Lys183Met)
c.167A>T (p.Lys56Met)
c.124-12737A>T (n.124-12737A>T)
11g.2570699G>ACA472037845KCNQ1c.288G>A (p.Lys96=)
c.478-12736G>A (n.478-12736G>A)
c.549G>A (p.Lys183=)
c.168G>A (p.Lys56=)
c.124-12736G>A (n.124-12736G>A)
 gnomAD v4
11g.2570699G>CCA379129927KCNQ1c.288G>C (p.Lys96Asn)
c.478-12736G>C (n.478-12736G>C)
c.549G>C (p.Lys183Asn)
c.168G>C (p.Lys56Asn)
c.124-12736G>C (n.124-12736G>C)
11g.2570699G>TCA379129928KCNQ1c.288G>T (p.Lys96Asn)
c.478-12736G>T (n.478-12736G>T)
c.549G>T (p.Lys183Asn)
c.168G>T (p.Lys56Asn)
c.124-12736G>T (n.124-12736G>T)
 gnomAD v4
11g.2570700T>ACA379129929KCNQ1c.289T>A (p.Tyr97Asn)
c.478-12735T>A (n.478-12735T>A)
c.550T>A (p.Tyr184Asn)
c.169T>A (p.Tyr57Asn)
c.124-12735T>A (n.124-12735T>A)
11g.2570700T>CCA007405KCNQ1c.289T>C (p.Tyr97His)
c.478-12735T>C (n.478-12735T>C)
c.550T>C (p.Tyr184His)
c.169T>C (p.Tyr57His)
c.124-12735T>C (n.124-12735T>C)
 ClinVar dbSNP
11g.2570700T>GCA007413KCNQ1c.289T>G (p.Tyr97Asp)
c.478-12735T>G (n.478-12735T>G)
c.550T>G (p.Tyr184Asp)
c.169T>G (p.Tyr57Asp)
c.124-12735T>G (n.124-12735T>G)
 ClinVar dbSNP
11g.2570700T=CA1948239750KCNQ1c.289T= (p.Tyr97=)
c.478-12735T= (n.478-12735T=)
c.550T= (p.Tyr184=)
c.169T= (p.Tyr57=)
c.124-12735T= (n.124-12735T=)
11g.2570701A=CA1948239762KCNQ1c.290A= (p.Tyr97=)
c.478-12734A= (n.478-12734A=)
c.551A= (p.Tyr184=)
c.170A= (p.Tyr57=)
c.124-12734A= (n.124-12734A=)
11g.2570701A>CCA007421KCNQ1c.290A>C (p.Tyr97Ser)
c.478-12734A>C (n.478-12734A>C)
c.551A>C (p.Tyr184Ser)
c.170A>C (p.Tyr57Ser)
c.124-12734A>C (n.124-12734A>C)
 ClinVar dbSNP
11g.2570701A>GCA379129930KCNQ1c.290A>G (p.Tyr97Cys)
c.478-12734A>G (n.478-12734A>G)
c.551A>G (p.Tyr184Cys)
c.170A>G (p.Tyr57Cys)
c.124-12734A>G (n.124-12734A>G)
11g.2570701A>TCA379129931KCNQ1c.290A>T (p.Tyr97Phe)
c.478-12734A>T (n.478-12734A>T)
c.551A>T (p.Tyr184Phe)
c.170A>T (p.Tyr57Phe)
c.124-12734A>T (n.124-12734A>T)
11g.2570701dupCA305943KCNQ1c.290dup (p.Tyr97Ter)
c.478-12734dup (n.478-12734dup)
c.551dup (p.Tyr184Ter)
c.170dup (p.Tyr57Ter)
c.124-12734dup (n.124-12734dup)
 ClinVar dbSNP
11g.2570701_2570702delinsACCA1948239761KCNQ1c.290_291delinsAC (p.Tyr97=)
c.478-12734_478-12733delinsAC (n.478-12734_478-12733delinsAC)
c.551_552delinsAC (p.Tyr184=)
c.170_171delinsAC (p.Tyr57=)
c.124-12734_124-12733delinsAC (n.124-12734_124-12733delinsAC)
11g.2570702delCA1139661773KCNQ1c.291del (p.Tyr97Ter)
c.478-12733del (n.478-12733del)
c.552del (p.Tyr184Ter)
c.171del (p.Tyr57Ter)
c.124-12733del (n.124-12733del)
 ClinVar dbSNP
11g.2570702C>ACA379129932KCNQ1c.291C>A (p.Tyr97Ter)
c.478-12733C>A (n.478-12733C>A)
c.552C>A (p.Tyr184Ter)
c.171C>A (p.Tyr57Ter)
c.124-12733C>A (n.124-12733C>A)
11g.2570702C=CA1948239765KCNQ1c.291C= (p.Tyr97=)
c.478-12733C= (n.478-12733C=)
c.552C= (p.Tyr184=)
c.171C= (p.Tyr57=)
c.124-12733C= (n.124-12733C=)
11g.2570702C>GCA379129933KCNQ1c.291C>G (p.Tyr97Ter)
c.478-12733C>G (n.478-12733C>G)
c.552C>G (p.Tyr184Ter)
c.171C>G (p.Tyr57Ter)
c.124-12733C>G (n.124-12733C>G)
11g.2570702C>TCA038315KCNQ1c.291C>T (p.Tyr97=)
c.478-12733C>T (n.478-12733C>T)
c.552C>T (p.Tyr184=)
c.171C>T (p.Tyr57=)
c.124-12733C>T (n.124-12733C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570704_2570725delCA2580082606KCNQ1c.293_314del (p.Val98AlafsTer?)
c.478-12731_478-12710del (n.478-12731_478-12710del)
c.554_575del (p.Val185AlafsTer?)
c.173_194del (p.Val58AlafsTer?)
c.124-12731_124-12710del (n.124-12731_124-12710del)
 ClinVar
11g.2570703G>ACA038335KCNQ1c.292G>A (p.Val98Met)
c.478-12732G>A (n.478-12732G>A)
c.553G>A (p.Val185Met)
c.172G>A (p.Val58Met)
c.124-12732G>A (n.124-12732G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2570703G>CCA038359KCNQ1c.292G>C (p.Val98Leu)
c.478-12732G>C (n.478-12732G>C)
c.553G>C (p.Val185Leu)
c.172G>C (p.Val58Leu)
c.124-12732G>C (n.124-12732G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570703G=CA1948239766KCNQ1c.292G= (p.Val98=)
c.478-12732G= (n.478-12732G=)
c.553G= (p.Val185=)
c.172G= (p.Val58=)
c.124-12732G= (n.124-12732G=)
11g.2570703G>TCA379129934KCNQ1c.292G>T (p.Val98Leu)
c.478-12732G>T (n.478-12732G>T)
c.553G>T (p.Val185Leu)
c.172G>T (p.Val58Leu)
c.124-12732G>T (n.124-12732G>T)
11g.2570704T>ACA379129935KCNQ1c.293T>A (p.Val98Glu)
c.478-12731T>A (n.478-12731T>A)
c.554T>A (p.Val185Glu)
c.173T>A (p.Val58Glu)
c.124-12731T>A (n.124-12731T>A)
11g.2570704T>CCA379129937KCNQ1c.293T>C (p.Val98Ala)
c.478-12731T>C (n.478-12731T>C)
c.554T>C (p.Val185Ala)
c.173T>C (p.Val58Ala)
c.124-12731T>C (n.124-12731T>C)
11g.2570704T>GCA379129936KCNQ1c.293T>G (p.Val98Gly)
c.478-12731T>G (n.478-12731T>G)
c.554T>G (p.Val185Gly)
c.173T>G (p.Val58Gly)
c.124-12731T>G (n.124-12731T>G)
11g.2570705_2570710delCA2695213145KCNQ1c.294_299del (p.Gly99_Leu100del)
c.478-12730_478-12725del (n.478-12730_478-12725del)
c.555_560del (p.Gly186_Leu187del)
c.174_179del (p.Gly59_Leu60del)
c.124-12730_124-12725del (n.124-12730_124-12725del)
11g.2570705G>ACA472037855KCNQ1c.294G>A (p.Val98=)
c.478-12730G>A (n.478-12730G>A)
c.555G>A (p.Val185=)
c.174G>A (p.Val58=)
c.124-12730G>A (n.124-12730G>A)
11g.2570705G>CCA472037856KCNQ1c.294G>C (p.Val98=)
c.478-12730G>C (n.478-12730G>C)
c.555G>C (p.Val185=)
c.174G>C (p.Val58=)
c.124-12730G>C (n.124-12730G>C)
11g.2570705G>TCA472037857KCNQ1c.294G>T (p.Val98=)
c.478-12730G>T (n.478-12730G>T)
c.555G>T (p.Val185=)
c.174G>T (p.Val58=)
c.124-12730G>T (n.124-12730G>T)
 gnomAD v4
11g.2570706G>ACA007432KCNQ1c.295G>A (p.Gly99Ser)
c.478-12729G>A (n.478-12729G>A)
c.556G>A (p.Gly186Ser)
c.175G>A (p.Gly59Ser)
c.124-12729G>A (n.124-12729G>A)
 ClinVar dbSNP
11g.2570706G>CCA007440KCNQ1c.295G>C (p.Gly99Arg)
c.478-12729G>C (n.478-12729G>C)
c.556G>C (p.Gly186Arg)
c.175G>C (p.Gly59Arg)
c.124-12729G>C (n.124-12729G>C)
 ClinVar dbSNP
11g.2570706G=CA1948239767KCNQ1c.295G= (p.Gly99=)
c.478-12729G= (n.478-12729G=)
c.556G= (p.Gly186=)
c.175G= (p.Gly59=)
c.124-12729G= (n.124-12729G=)
11g.2570706G>TCA379129938KCNQ1c.295G>T (p.Gly99Cys)
c.478-12729G>T (n.478-12729G>T)
c.556G>T (p.Gly186Cys)
c.175G>T (p.Gly59Cys)
c.124-12729G>T (n.124-12729G>T)
 ClinVar dbSNP
11g.2570706_2570711delCA2695213146KCNQ1c.295_300del (p.Gly99_Leu100del)
c.478-12729_478-12724del (n.478-12729_478-12724del)
c.556_561del (p.Gly186_Leu187del)
c.175_180del (p.Gly59_Leu60del)
c.124-12729_124-12724del (n.124-12729_124-12724del)
11g.2570707G>ACA10575751KCNQ1c.296G>A (p.Gly99Asp)
c.478-12728G>A (n.478-12728G>A)
c.557G>A (p.Gly186Asp)
c.176G>A (p.Gly59Asp)
c.124-12728G>A (n.124-12728G>A)
 ClinVar dbSNP
11g.2570707G>CCA379129939KCNQ1c.296G>C (p.Gly99Ala)
c.478-12728G>C (n.478-12728G>C)
c.557G>C (p.Gly186Ala)
c.176G>C (p.Gly59Ala)
c.124-12728G>C (n.124-12728G>C)
 ClinVar dbSNP gnomAD v4
11g.2570707G=CA1948239776KCNQ1c.296G= (p.Gly99=)
c.478-12728G= (n.478-12728G=)
c.557G= (p.Gly186=)
c.176G= (p.Gly59=)
c.124-12728G= (n.124-12728G=)
11g.2570707G>TCA007449KCNQ1c.296G>T (p.Gly99Val)
c.478-12728G>T (n.478-12728G>T)
c.557G>T (p.Gly186Val)
c.176G>T (p.Gly59Val)
c.124-12728G>T (n.124-12728G>T)
 ClinVar dbSNP gnomAD v4
11g.2570708C>ACA038388KCNQ1c.297C>A (p.Gly99=)
c.478-12727C>A (n.478-12727C>A)
c.558C>A (p.Gly186=)
c.177C>A (p.Gly59=)
c.124-12727C>A (n.124-12727C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570708C=CA1948239783KCNQ1c.297C= (p.Gly99=)
c.478-12727C= (n.478-12727C=)
c.558C= (p.Gly186=)
c.177C= (p.Gly59=)
c.124-12727C= (n.124-12727C=)
11g.2570708C>GCA472037858KCNQ1c.297C>G (p.Gly99=)
c.478-12727C>G (n.478-12727C>G)
c.558C>G (p.Gly186=)
c.177C>G (p.Gly59=)
c.124-12727C>G (n.124-12727C>G)
11g.2570708C>TCA472037859KCNQ1c.297C>T (p.Gly99=)
c.478-12727C>T (n.478-12727C>T)
c.558C>T (p.Gly186=)
c.177C>T (p.Gly59=)
c.124-12727C>T (n.124-12727C>T)
11g.2570709C>ACA379129940KCNQ1c.298C>A (p.Leu100Ile)
c.478-12726C>A (n.478-12726C>A)
c.559C>A (p.Leu187Ile)
c.178C>A (p.Leu60Ile)
c.124-12726C>A (n.124-12726C>A)
11g.2570709C=CA1948239787KCNQ1c.298C= (p.Leu100=)
c.478-12726C= (n.478-12726C=)
c.559C= (p.Leu187=)
c.178C= (p.Leu60=)
c.124-12726C= (n.124-12726C=)
11g.2570709C>GCA379129941KCNQ1c.298C>G (p.Leu100Val)
c.478-12726C>G (n.478-12726C>G)
c.559C>G (p.Leu187Val)
c.178C>G (p.Leu60Val)
c.124-12726C>G (n.124-12726C>G)
11g.2570709C>TCA379129942KCNQ1c.298C>T (p.Leu100Phe)
c.478-12726C>T (n.478-12726C>T)
c.559C>T (p.Leu187Phe)
c.178C>T (p.Leu60Phe)
c.124-12726C>T (n.124-12726C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2570710T>ACA379129944KCNQ1c.299T>A (p.Leu100His)
c.478-12725T>A (n.478-12725T>A)
c.560T>A (p.Leu187His)
c.179T>A (p.Leu60His)
c.124-12725T>A (n.124-12725T>A)
11g.2570710T>CCA007460KCNQ1c.299T>C (p.Leu100Pro)
c.478-12725T>C (n.478-12725T>C)
c.560T>C (p.Leu187Pro)
c.179T>C (p.Leu60Pro)
c.124-12725T>C (n.124-12725T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570710T>GCA379129943KCNQ1c.299T>G (p.Leu100Arg)
c.478-12725T>G (n.478-12725T>G)
c.560T>G (p.Leu187Arg)
c.179T>G (p.Leu60Arg)
c.124-12725T>G (n.124-12725T>G)
 ClinVar dbSNP gnomAD v4
11g.2570710T=CA1948239792KCNQ1c.299T= (p.Leu100=)
c.478-12725T= (n.478-12725T=)
c.560T= (p.Leu187=)
c.179T= (p.Leu60=)
c.124-12725T= (n.124-12725T=)
11g.2570711C>ACA472037862KCNQ1c.300C>A (p.Leu100=)
c.478-12724C>A (n.478-12724C>A)
c.561C>A (p.Leu187=)
c.180C>A (p.Leu60=)
c.124-12724C>A (n.124-12724C>A)
11g.2570711C>GCA472037863KCNQ1c.300C>G (p.Leu100=)
c.478-12724C>G (n.478-12724C>G)
c.561C>G (p.Leu187=)
c.180C>G (p.Leu60=)
c.124-12724C>G (n.124-12724C>G)
11g.2570711C>TCA472037864KCNQ1c.300C>T (p.Leu100=)
c.478-12724C>T (n.478-12724C>T)
c.561C>T (p.Leu187=)
c.180C>T (p.Leu60=)
c.124-12724C>T (n.124-12724C>T)
11g.2570711_2570712delinsCTCA1948239796KCNQ1c.300_301delinsCT (p.Leu100=)
c.478-12724_478-12723delinsCT (n.478-12724_478-12723delinsCT)
c.561_562delinsCT (p.Leu187=)
c.180_181delinsCT (p.Leu60=)
c.124-12724_124-12723delinsCT (n.124-12724_124-12723delinsCT)
11g.2570712delCA007472KCNQ1c.301del (p.Trp101GlyfsTer?)
c.478-12723del (n.478-12723del)
c.562del (p.Trp188GlyfsTer?)
c.181del (p.Trp61GlyfsTer?)
c.124-12723del (n.124-12723del)
 ClinVar dbSNP
11g.2570712T>ACA379129945KCNQ1c.301T>A (p.Trp101Arg)
c.478-12723T>A (n.478-12723T>A)
c.562T>A (p.Trp188Arg)
c.181T>A (p.Trp61Arg)
c.124-12723T>A (n.124-12723T>A)
11g.2570712T>CCA379129946KCNQ1c.301T>C (p.Trp101Arg)
c.478-12723T>C (n.478-12723T>C)
c.562T>C (p.Trp188Arg)
c.181T>C (p.Trp61Arg)
c.124-12723T>C (n.124-12723T>C)
 ClinVar gnomAD v4
11g.2570712T>GCA379129947KCNQ1c.301T>G (p.Trp101Gly)
c.478-12723T>G (n.478-12723T>G)
c.562T>G (p.Trp188Gly)
c.181T>G (p.Trp61Gly)
c.124-12723T>G (n.124-12723T>G)
 dbSNP gnomAD v2 gnomAD v4
11g.2570712T=CA1948239800KCNQ1c.301T= (p.Trp101=)
c.478-12723T= (n.478-12723T=)
c.562T= (p.Trp188=)
c.181T= (p.Trp61=)
c.124-12723T= (n.124-12723T=)
11g.2570712_2570714delinsTGGCA1948239798KCNQ1c.301_303delinsTGG (p.Trp101=)
c.478-12723_478-12721delinsTGG (n.478-12723_478-12721delinsTGG)
c.562_564delinsTGG (p.Trp188=)
c.181_183delinsTGG (p.Trp61=)
c.124-12723_124-12721delinsTGG (n.124-12723_124-12721delinsTGG)
11g.2570713G>ACA379129948KCNQ1c.302G>A (p.Trp101Ter)
c.478-12722G>A (n.478-12722G>A)
c.563G>A (p.Trp188Ter)
c.182G>A (p.Trp61Ter)
c.124-12722G>A (n.124-12722G>A)
 dbSNP
11g.2570713G>CCA379129949KCNQ1c.302G>C (p.Trp101Ser)
c.478-12722G>C (n.478-12722G>C)
c.563G>C (p.Trp188Ser)
c.182G>C (p.Trp61Ser)
c.124-12722G>C (n.124-12722G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2570713G=CA1948239814KCNQ1c.302G= (p.Trp101=)
c.478-12722G= (n.478-12722G=)
c.563G= (p.Trp188=)
c.182G= (p.Trp61=)
c.124-12722G= (n.124-12722G=)
11g.2570713G>TCA379129950KCNQ1c.302G>T (p.Trp101Leu)
c.478-12722G>T (n.478-12722G>T)
c.563G>T (p.Trp188Leu)
c.182G>T (p.Trp61Leu)
c.124-12722G>T (n.124-12722G>T)
11g.2570717dupCA007508KCNQ1c.306dup (p.Arg103AlafsTer?)
c.478-12718dup (n.478-12718dup)
c.567dup (p.Arg190AlafsTer?)
c.186dup (p.Arg63AlafsTer?)
c.124-12718dup (n.124-12718dup)
 ClinVar dbSNP gnomAD v4
11g.2570717delCA2612002607KCNQ1c.306del (p.Arg103GlyfsTer?)
c.478-12718del (n.478-12718del)
c.567del (p.Arg190GlyfsTer?)
c.186del (p.Arg63GlyfsTer?)
c.124-12718del (n.124-12718del)
 gnomAD v4
11g.2570716_2570717delCA915947934KCNQ1c.305_306del (p.Gly102AlafsTer?)
c.478-12719_478-12718del (n.478-12719_478-12718del)
c.566_567del (p.Gly189AlafsTer?)
c.185_186del (p.Gly62AlafsTer?)
c.124-12719_124-12718del (n.124-12719_124-12718del)
 ClinVar dbSNP
11g.2570714G>ACA10587720KCNQ1c.303G>A (p.Trp101Ter)
c.478-12721G>A (n.478-12721G>A)
c.564G>A (p.Trp188Ter)
c.183G>A (p.Trp61Ter)
c.124-12721G>A (n.124-12721G>A)
 ClinVar dbSNP gnomAD v4
11g.2570714G>CCA038418KCNQ1c.303G>C (p.Trp101Cys)
c.478-12721G>C (n.478-12721G>C)
c.564G>C (p.Trp188Cys)
c.183G>C (p.Trp61Cys)
c.124-12721G>C (n.124-12721G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570714G=CA1948239824KCNQ1c.303G= (p.Trp101=)
c.478-12721G= (n.478-12721G=)
c.564G= (p.Trp188=)
c.183G= (p.Trp61=)
c.124-12721G= (n.124-12721G=)
11g.2570714G>TCA379129951KCNQ1c.303G>T (p.Trp101Cys)
c.478-12721G>T (n.478-12721G>T)
c.564G>T (p.Trp188Cys)
c.183G>T (p.Trp61Cys)
c.124-12721G>T (n.124-12721G>T)
11g.2570715G>ACA007480KCNQ1c.304G>A (p.Gly102Arg)
c.478-12720G>A (n.478-12720G>A)
c.565G>A (p.Gly189Arg)
c.184G>A (p.Gly62Arg)
c.124-12720G>A (n.124-12720G>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.2570715G>CCA007488KCNQ1c.304G>C (p.Gly102Arg)
c.478-12720G>C (n.478-12720G>C)
c.565G>C (p.Gly189Arg)
c.184G>C (p.Gly62Arg)
c.124-12720G>C (n.124-12720G>C)
 ClinVar dbSNP
11g.2570715G=CA1948239835KCNQ1c.304G= (p.Gly102=)
c.478-12720G= (n.478-12720G=)
c.565G= (p.Gly189=)
c.184G= (p.Gly62=)
c.124-12720G= (n.124-12720G=)
11g.2570715G>TCA379129952KCNQ1c.304G>T (p.Gly102Trp)
c.478-12720G>T (n.478-12720G>T)
c.565G>T (p.Gly189Trp)
c.184G>T (p.Gly62Trp)
c.124-12720G>T (n.124-12720G>T)
11g.2570716G>ACA007497KCNQ1c.305G>A (p.Gly102Glu)
c.478-12719G>A (n.478-12719G>A)
c.566G>A (p.Gly189Glu)
c.185G>A (p.Gly62Glu)
c.124-12719G>A (n.124-12719G>A)
 ClinVar dbSNP
11g.2570716G>CCA379129954KCNQ1c.305G>C (p.Gly102Ala)
c.478-12719G>C (n.478-12719G>C)
c.566G>C (p.Gly189Ala)
c.185G>C (p.Gly62Ala)
c.124-12719G>C (n.124-12719G>C)
 ClinVar
11g.2570716G=CA1948239849KCNQ1c.305G= (p.Gly102=)
c.478-12719G= (n.478-12719G=)
c.566G= (p.Gly189=)
c.185G= (p.Gly62=)
c.124-12719G= (n.124-12719G=)
11g.2570716G>TCA379129953KCNQ1c.305G>T (p.Gly102Val)
c.478-12719G>T (n.478-12719G>T)
c.566G>T (p.Gly189Val)
c.185G>T (p.Gly62Val)
c.124-12719G>T (n.124-12719G>T)
11g.2570717G>ACA472037875KCNQ1c.306G>A (p.Gly102=)
c.478-12718G>A (n.478-12718G>A)
c.567G>A (p.Gly189=)
c.186G>A (p.Gly62=)
c.124-12718G>A (n.124-12718G>A)
 ClinVar gnomAD v4
11g.2570717G>CCA472037876KCNQ1c.306G>C (p.Gly102=)
c.478-12718G>C (n.478-12718G>C)
c.567G>C (p.Gly189=)
c.186G>C (p.Gly62=)
c.124-12718G>C (n.124-12718G>C)
 ClinVar gnomAD v3 gnomAD v4
11g.2570717G=CA1948239856KCNQ1c.306G= (p.Gly102=)
c.478-12718G= (n.478-12718G=)
c.567G= (p.Gly189=)
c.186G= (p.Gly62=)
c.124-12718G= (n.124-12718G=)
11g.2570717G>TCA007520KCNQ1c.306G>T (p.Gly102=)
c.478-12718G>T (n.478-12718G>T)
c.567G>T (p.Gly189=)
c.186G>T (p.Gly62=)
c.124-12718G>T (n.124-12718G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570720_2570725delCA038479KCNQ1c.309_314del (p.Leu104_Arg105del)
c.478-12715_478-12710del (n.478-12715_478-12710del)
c.570_575del (p.Leu191_Arg192del)
c.189_194del (p.Leu64_Arg65del)
c.124-12715_124-12710del (n.124-12715_124-12710del)
11g.2570717_2570731delinsGCGGCTGCGCTTTGCCA1948239858KCNQ1c.306_320delinsGCGGCTGCGCTTTGC (p.Gly102=)
c.478-12718_478-12704delinsGCGGCTGCGCTTTGC (n.478-12718_478-12704delinsGCGGCTGCGCTTTGC)
c.567_581delinsGCGGCTGCGCTTTGC (p.Gly189=)
c.186_200delinsGCGGCTGCGCTTTGC (p.Gly62=)
c.124-12718_124-12704delinsGCGGCTGCGCTTTGC (n.124-12718_124-12704delinsGCGGCTGCGCTTTGC)
11g.2570718C>ACA038456KCNQ1c.307C>A (p.Arg103=)
c.478-12717C>A (n.478-12717C>A)
c.568C>A (p.Arg190=)
c.187C>A (p.Arg63=)
c.124-12717C>A (n.124-12717C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570718C=CA1948239875KCNQ1c.307C= (p.Arg103=)
c.478-12717C= (n.478-12717C=)
c.568C= (p.Arg190=)
c.187C= (p.Arg63=)
c.124-12717C= (n.124-12717C=)
11g.2570718C>GCA379129955KCNQ1c.307C>G (p.Arg103Gly)
c.478-12717C>G (n.478-12717C>G)
c.568C>G (p.Arg190Gly)
c.187C>G (p.Arg63Gly)
c.124-12717C>G (n.124-12717C>G)
11g.2570718C>TCA007529KCNQ1c.307C>T (p.Arg103Trp)
c.478-12717C>T (n.478-12717C>T)
c.568C>T (p.Arg190Trp)
c.187C>T (p.Arg63Trp)
c.124-12717C>T (n.124-12717C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2570719_2570732delCA007538KCNQ1c.308_321del (p.Arg103ProfsTer?)
c.478-12716_478-12703del (n.478-12716_478-12703del)
c.569_582del (p.Arg190ProfsTer?)
c.188_201del (p.Arg63ProfsTer?)
c.124-12716_124-12703del (n.124-12716_124-12703del)
 ClinVar dbSNP
11g.2570719G>ACA007542KCNQ1c.308G>A (p.Arg103Gln)
c.478-12716G>A (n.478-12716G>A)
c.569G>A (p.Arg190Gln)
c.188G>A (p.Arg63Gln)
c.124-12716G>A (n.124-12716G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2570719G>CCA10582882KCNQ1c.308G>C (p.Arg103Pro)
c.478-12716G>C (n.478-12716G>C)
c.569G>C (p.Arg190Pro)
c.188G>C (p.Arg63Pro)
c.124-12716G>C (n.124-12716G>C)
 ClinVar dbSNP
11g.2570719G=CA1948239888KCNQ1c.308G= (p.Arg103=)
c.478-12716G= (n.478-12716G=)
c.569G= (p.Arg190=)
c.188G= (p.Arg63=)
c.124-12716G= (n.124-12716G=)
11g.2570719G>TCA007551KCNQ1c.308G>T (p.Arg103Leu)
c.478-12716G>T (n.478-12716G>T)
c.569G>T (p.Arg190Leu)
c.188G>T (p.Arg63Leu)
c.124-12716G>T (n.124-12716G>T)
 ClinVar dbSNP ExAC gnomAD v2
11g.2570719_2570724delinsGGCTGCCA1948239892KCNQ1c.308_313delinsGGCTGC (p.Arg103=)
c.478-12716_478-12711delinsGGCTGC (n.478-12716_478-12711delinsGGCTGC)
c.569_574delinsGGCTGC (p.Arg190=)
c.188_193delinsGGCTGC (p.Arg63=)
c.124-12716_124-12711delinsGGCTGC (n.124-12716_124-12711delinsGGCTGC)
11g.2570720G>ACA038508KCNQ1c.309G>A (p.Arg103=)
c.478-12715G>A (n.478-12715G>A)
c.570G>A (p.Arg190=)
c.189G>A (p.Arg63=)
c.124-12715G>A (n.124-12715G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570720G>CCA472037878KCNQ1c.309G>C (p.Arg103=)
c.478-12715G>C (n.478-12715G>C)
c.570G>C (p.Arg190=)
c.189G>C (p.Arg63=)
c.124-12715G>C (n.124-12715G>C)
11g.2570720G=CA1948239908KCNQ1c.309G= (p.Arg103=)
c.478-12715G= (n.478-12715G=)
c.570G= (p.Arg190=)
c.189G= (p.Arg63=)
c.124-12715G= (n.124-12715G=)
11g.2570720G>TCA472037879KCNQ1c.309G>T (p.Arg103=)
c.478-12715G>T (n.478-12715G>T)
c.570G>T (p.Arg190=)
c.189G>T (p.Arg63=)
c.124-12715G>T (n.124-12715G>T)
 ClinVar dbSNP
11g.2570723_2570727delCA007559KCNQ1c.312_316del (p.Arg105CysfsTer?)
c.478-12712_478-12708del (n.478-12712_478-12708del)
c.573_577del (p.Arg192CysfsTer?)
c.192_196del (p.Arg65CysfsTer?)
c.124-12712_124-12708del (n.124-12712_124-12708del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570721C>ACA379129967KCNQ1c.310C>A (p.Leu104Met)
c.478-12714C>A (n.478-12714C>A)
c.571C>A (p.Leu191Met)
c.190C>A (p.Leu64Met)
c.124-12714C>A (n.124-12714C>A)
11g.2570721C>GCA379129969KCNQ1c.310C>G (p.Leu104Val)
c.478-12714C>G (n.478-12714C>G)
c.571C>G (p.Leu191Val)
c.190C>G (p.Leu64Val)
c.124-12714C>G (n.124-12714C>G)
11g.2570721C>TCA472037880KCNQ1c.310C>T (p.Leu104=)
c.478-12714C>T (n.478-12714C>T)
c.571C>T (p.Leu191=)
c.190C>T (p.Leu64=)
c.124-12714C>T (n.124-12714C>T)
11g.2570722T>ACA379129974KCNQ1c.311T>A (p.Leu104Gln)
c.478-12713T>A (n.478-12713T>A)
c.572T>A (p.Leu191Gln)
c.191T>A (p.Leu64Gln)
c.124-12713T>A (n.124-12713T>A)
11g.2570722T>CCA007572KCNQ1c.311T>C (p.Leu104Pro)
c.478-12713T>C (n.478-12713T>C)
c.572T>C (p.Leu191Pro)
c.191T>C (p.Leu64Pro)
c.124-12713T>C (n.124-12713T>C)
 ClinVar dbSNP
11g.2570722T>GCA379129972KCNQ1c.311T>G (p.Leu104Arg)
c.478-12713T>G (n.478-12713T>G)
c.572T>G (p.Leu191Arg)
c.191T>G (p.Leu64Arg)
c.124-12713T>G (n.124-12713T>G)
11g.2570722T=CA1948239917KCNQ1c.311T= (p.Leu104=)
c.478-12713T= (n.478-12713T=)
c.572T= (p.Leu191=)
c.191T= (p.Leu64=)
c.124-12713T= (n.124-12713T=)
11g.2570723G>ACA472037882KCNQ1c.312G>A (p.Leu104=)
c.478-12712G>A (n.478-12712G>A)
c.573G>A (p.Leu191=)
c.192G>A (p.Leu64=)
c.124-12712G>A (n.124-12712G>A)
 ClinVar gnomAD v4
11g.2570723G>CCA472037883KCNQ1c.312G>C (p.Leu104=)
c.478-12712G>C (n.478-12712G>C)
c.573G>C (p.Leu191=)
c.192G>C (p.Leu64=)
c.124-12712G>C (n.124-12712G>C)
11g.2570723G=CA1948239929KCNQ1c.312G= (p.Leu104=)
c.478-12712G= (n.478-12712G=)
c.573G= (p.Leu191=)
c.192G= (p.Leu64=)
c.124-12712G= (n.124-12712G=)
11g.2570723G>TCA038523KCNQ1c.312G>T (p.Leu104=)
c.478-12712G>T (n.478-12712G>T)
c.573G>T (p.Leu191=)
c.192G>T (p.Leu64=)
c.124-12712G>T (n.124-12712G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2570724C>ACA379129982KCNQ1c.313C>A (p.Arg105Ser)
c.478-12711C>A (n.478-12711C>A)
c.574C>A (p.Arg192Ser)
c.193C>A (p.Arg65Ser)
c.124-12711C>A (n.124-12711C>A)
 gnomAD v4
11g.2570724C=CA1948239937KCNQ1c.313C= (p.Arg105=)
c.478-12711C= (n.478-12711C=)
c.574C= (p.Arg192=)
c.193C= (p.Arg65=)
c.124-12711C= (n.124-12711C=)
11g.2570724C>GCA379129980KCNQ1c.313C>G (p.Arg105Gly)
c.478-12711C>G (n.478-12711C>G)
c.574C>G (p.Arg192Gly)
c.193C>G (p.Arg65Gly)
c.124-12711C>G (n.124-12711C>G)
11g.2570724C>TCA038536KCNQ1c.313C>T (p.Arg105Cys)
c.478-12711C>T (n.478-12711C>T)
c.574C>T (p.Arg192Cys)
c.193C>T (p.Arg65Cys)
c.124-12711C>T (n.124-12711C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2570725G>ACA007593KCNQ1c.314G>A (p.Arg105His)
c.478-12710G>A (n.478-12710G>A)
c.575G>A (p.Arg192His)
c.194G>A (p.Arg65His)
c.124-12710G>A (n.124-12710G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2570725G>CCA007599KCNQ1c.314G>C (p.Arg105Pro)
c.478-12710G>C (n.478-12710G>C)
c.575G>C (p.Arg192Pro)
c.194G>C (p.Arg65Pro)
c.124-12710G>C (n.124-12710G>C)
 ClinVar dbSNP
11g.2570725G=CA1948239956KCNQ1c.314G= (p.Arg105=)
c.478-12710G= (n.478-12710G=)
c.575G= (p.Arg192=)
c.194G= (p.Arg65=)
c.124-12710G= (n.124-12710G=)
11g.2570725G>TCA379129988KCNQ1c.314G>T (p.Arg105Leu)
c.478-12710G>T (n.478-12710G>T)
c.575G>T (p.Arg192Leu)
c.194G>T (p.Arg65Leu)
c.124-12710G>T (n.124-12710G>T)
 ClinVar dbSNP
11g.2570726C>ACA472037884KCNQ1c.315C>A (p.Arg105=)
c.478-12709C>A (n.478-12709C>A)
c.576C>A (p.Arg192=)
c.195C>A (p.Arg65=)
c.124-12709C>A (n.124-12709C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.2570726C=CA1948239970KCNQ1c.315C= (p.Arg105=)
c.478-12709C= (n.478-12709C=)
c.576C= (p.Arg192=)
c.195C= (p.Arg65=)
c.124-12709C= (n.124-12709C=)
11g.2570726C>GCA472037885KCNQ1c.315C>G (p.Arg105=)
c.478-12709C>G (n.478-12709C>G)
c.576C>G (p.Arg192=)
c.195C>G (p.Arg65=)
c.124-12709C>G (n.124-12709C>G)
11g.2570726C>TCA038548KCNQ1c.315C>T (p.Arg105=)
c.478-12709C>T (n.478-12709C>T)
c.576C>T (p.Arg192=)
c.195C>T (p.Arg65=)
c.124-12709C>T (n.124-12709C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570727T>ACA379129997KCNQ1c.316T>A (p.Phe106Ile)
c.478-12708T>A (n.478-12708T>A)
c.577T>A (p.Phe193Ile)
c.196T>A (p.Phe66Ile)
c.124-12708T>A (n.124-12708T>A)
11g.2570727T>CCA007608KCNQ1c.316T>C (p.Phe106Leu)
c.478-12708T>C (n.478-12708T>C)
c.577T>C (p.Phe193Leu)
c.196T>C (p.Phe66Leu)
c.124-12708T>C (n.124-12708T>C)
 ClinVar dbSNP
11g.2570727T>GCA379129995KCNQ1c.316T>G (p.Phe106Val)
c.478-12708T>G (n.478-12708T>G)
c.577T>G (p.Phe193Val)
c.196T>G (p.Phe66Val)
c.124-12708T>G (n.124-12708T>G)
11g.2570727T=CA1948239982KCNQ1c.316T= (p.Phe106=)
c.478-12708T= (n.478-12708T=)
c.577T= (p.Phe193=)
c.196T= (p.Phe66=)
c.124-12708T= (n.124-12708T=)
11g.2570728T>ACA379130000KCNQ1c.317T>A (p.Phe106Tyr)
c.478-12707T>A (n.478-12707T>A)
c.578T>A (p.Phe193Tyr)
c.197T>A (p.Phe66Tyr)
c.124-12707T>A (n.124-12707T>A)
11g.2570728T>CCA379130003KCNQ1c.317T>C (p.Phe106Ser)
c.478-12707T>C (n.478-12707T>C)
c.578T>C (p.Phe193Ser)
c.197T>C (p.Phe66Ser)
c.124-12707T>C (n.124-12707T>C)
11g.2570728T>GCA379130005KCNQ1c.317T>G (p.Phe106Cys)
c.478-12707T>G (n.478-12707T>G)
c.578T>G (p.Phe193Cys)
c.197T>G (p.Phe66Cys)
c.124-12707T>G (n.124-12707T>G)
11g.2570729T>ACA007620KCNQ1c.318T>A (p.Phe106Leu)
c.478-12706T>A (n.478-12706T>A)
c.579T>A (p.Phe193Leu)
c.198T>A (p.Phe66Leu)
c.124-12706T>A (n.124-12706T>A)
 ClinVar dbSNP
11g.2570729T>CCA472037886KCNQ1c.318T>C (p.Phe106=)
c.478-12706T>C (n.478-12706T>C)
c.579T>C (p.Phe193=)
c.198T>C (p.Phe66=)
c.124-12706T>C (n.124-12706T>C)
11g.2570729T>GCA379130010KCNQ1c.318T>G (p.Phe106Leu)
c.478-12706T>G (n.478-12706T>G)
c.579T>G (p.Phe193Leu)
c.198T>G (p.Phe66Leu)
c.124-12706T>G (n.124-12706T>G)
11g.2570729T=CA1948239986KCNQ1c.318T= (p.Phe106=)
c.478-12706T= (n.478-12706T=)
c.579T= (p.Phe193=)
c.198T= (p.Phe66=)
c.124-12706T= (n.124-12706T=)
11g.2570730G>ACA379130015KCNQ1c.319G>A (p.Ala107Thr)
c.478-12705G>A (n.478-12705G>A)
c.580G>A (p.Ala194Thr)
c.199G>A (p.Ala67Thr)
c.124-12705G>A (n.124-12705G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.2570730G>CCA007628KCNQ1c.319G>C (p.Ala107Pro)
c.478-12705G>C (n.478-12705G>C)
c.580G>C (p.Ala194Pro)
c.199G>C (p.Ala67Pro)
c.124-12705G>C (n.124-12705G>C)
 ClinVar dbSNP
11g.2570730G=CA1948239994KCNQ1c.319G= (p.Ala107=)
c.478-12705G= (n.478-12705G=)
c.580G= (p.Ala194=)
c.199G= (p.Ala67=)
c.124-12705G= (n.124-12705G=)
11g.2570730G>TCA379130013KCNQ1c.319G>T (p.Ala107Ser)
c.478-12705G>T (n.478-12705G>T)
c.580G>T (p.Ala194Ser)
c.199G>T (p.Ala67Ser)
c.124-12705G>T (n.124-12705G>T)
 gnomAD v4
11g.2570731C>ACA379130018KCNQ1c.320C>A (p.Ala107Asp)
c.478-12704C>A (n.478-12704C>A)
c.581C>A (p.Ala194Asp)
c.200C>A (p.Ala67Asp)
c.124-12704C>A (n.124-12704C>A)
11g.2570731C>GCA379130021KCNQ1c.320C>G (p.Ala107Gly)
c.478-12704C>G (n.478-12704C>G)
c.581C>G (p.Ala194Gly)
c.200C>G (p.Ala67Gly)
c.124-12704C>G (n.124-12704C>G)
11g.2570731C>TCA379130023KCNQ1c.320C>T (p.Ala107Val)
c.478-12704C>T (n.478-12704C>T)
c.581C>T (p.Ala194Val)
c.200C>T (p.Ala67Val)
c.124-12704C>T (n.124-12704C>T)
 ClinVar dbSNP gnomAD v4
11g.2570732C>ACA472037887KCNQ1c.321C>A (p.Ala107=)
c.478-12703C>A (n.478-12703C>A)
c.582C>A (p.Ala194=)
c.201C>A (p.Ala67=)
c.124-12703C>A (n.124-12703C>A)
11g.2570732C>GCA472037889KCNQ1c.321C>G (p.Ala107=)
c.478-12703C>G (n.478-12703C>G)
c.582C>G (p.Ala194=)
c.201C>G (p.Ala67=)
c.124-12703C>G (n.124-12703C>G)
11g.2570732C>TCA472037888KCNQ1c.321C>T (p.Ala107=)
c.478-12703C>T (n.478-12703C>T)
c.582C>T (p.Ala194=)
c.201C>T (p.Ala67=)
c.124-12703C>T (n.124-12703C>T)
11g.2570734_2570800delCA2580615600KCNQ1c.323_343+46del
c.478-12701_478-12635del (n.478-12701_478-12635del)
c.584_604+46del
c.203_223+46del
c.124-12701_124-12635del (n.124-12701_124-12635del)
 ClinVar
11g.2570733C>ACA472037890KCNQ1c.322C>A (p.Arg108=)
c.478-12702C>A (n.478-12702C>A)
c.583C>A (p.Arg195=)
c.202C>A (p.Arg68=)
c.124-12702C>A (n.124-12702C>A)
11g.2570733C=CA1948240005KCNQ1c.322C= (p.Arg108=)
c.478-12702C= (n.478-12702C=)
c.583C= (p.Arg195=)
c.202C= (p.Arg68=)
c.124-12702C= (n.124-12702C=)
11g.2570733C>GCA379130026KCNQ1c.322C>G (p.Arg108Gly)
c.478-12702C>G (n.478-12702C>G)
c.583C>G (p.Arg195Gly)
c.202C>G (p.Arg68Gly)
c.124-12702C>G (n.124-12702C>G)
 ClinVar gnomAD v4
11g.2570733C>TCA007637KCNQ1c.322C>T (p.Arg108Trp)
c.478-12702C>T (n.478-12702C>T)
c.583C>T (p.Arg195Trp)
c.202C>T (p.Arg68Trp)
c.124-12702C>T (n.124-12702C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570733_2570734delinsCGCA1948240008KCNQ1c.322_323delinsCG (p.Arg108=)
c.478-12702_478-12701delinsCG (n.478-12702_478-12701delinsCG)
c.583_584delinsCG (p.Arg195=)
c.202_203delinsCG (p.Arg68=)
c.124-12702_124-12701delinsCG (n.124-12702_124-12701delinsCG)
11g.2570734G>ACA007641KCNQ1c.323G>A (p.Arg108Gln)
c.478-12701G>A (n.478-12701G>A)
c.584G>A (p.Arg195Gln)
c.203G>A (p.Arg68Gln)
c.124-12701G>A (n.124-12701G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2570734G>CCA379130032KCNQ1c.323G>C (p.Arg108Pro)
c.478-12701G>C (n.478-12701G>C)
c.584G>C (p.Arg195Pro)
c.203G>C (p.Arg68Pro)
c.124-12701G>C (n.124-12701G>C)
 ClinVar dbSNP
11g.2570734G=CA1948240030KCNQ1c.323G= (p.Arg108=)
c.478-12701G= (n.478-12701G=)
c.584G= (p.Arg195=)
c.203G= (p.Arg68=)
c.124-12701G= (n.124-12701G=)
11g.2570734G>TCA379130034KCNQ1c.323G>T (p.Arg108Leu)
c.478-12701G>T (n.478-12701G>T)
c.584G>T (p.Arg195Leu)
c.203G>T (p.Arg68Leu)
c.124-12701G>T (n.124-12701G>T)
 gnomAD v4
11g.2570735delCA007649KCNQ1c.324del (p.Lys109SerfsTer?)
c.478-12700del (n.478-12700del)
c.585del (p.Lys196SerfsTer?)
c.204del (p.Lys69SerfsTer?)
c.124-12700del (n.124-12700del)
 ClinVar dbSNP
11g.2570735G>ACA472037891KCNQ1c.324G>A (p.Arg108=)
c.478-12700G>A (n.478-12700G>A)
c.585G>A (p.Arg195=)
c.204G>A (p.Arg68=)
c.124-12700G>A (n.124-12700G>A)
11g.2570735G>CCA472037892KCNQ1c.324G>C (p.Arg108=)
c.478-12700G>C (n.478-12700G>C)
c.585G>C (p.Arg195=)
c.204G>C (p.Arg68=)
c.124-12700G>C (n.124-12700G>C)
11g.2570735G>TCA472037893KCNQ1c.324G>T (p.Arg108=)
c.478-12700G>T (n.478-12700G>T)
c.585G>T (p.Arg195=)
c.204G>T (p.Arg68=)
c.124-12700G>T (n.124-12700G>T)
11g.2570736A=CA1948240042KCNQ1c.325A= (p.Lys109=)
c.478-12699A= (n.478-12699A=)
c.586A= (p.Lys196=)
c.205A= (p.Lys69=)
c.124-12699A= (n.124-12699A=)
11g.2570736A>CCA379130039KCNQ1c.325A>C (p.Lys109Gln)
c.478-12699A>C (n.478-12699A>C)
c.586A>C (p.Lys196Gln)
c.205A>C (p.Lys69Gln)
c.124-12699A>C (n.124-12699A>C)
 ClinVar dbSNP
11g.2570736A>GCA379130042KCNQ1c.325A>G (p.Lys109Glu)
c.478-12699A>G (n.478-12699A>G)
c.586A>G (p.Lys196Glu)
c.205A>G (p.Lys69Glu)
c.124-12699A>G (n.124-12699A>G)
11g.2570736A>TCA379130043KCNQ1c.325A>T (p.Lys109Ter)
c.478-12699A>T (n.478-12699A>T)
c.586A>T (p.Lys196Ter)
c.205A>T (p.Lys69Ter)
c.124-12699A>T (n.124-12699A>T)
 gnomAD v4
11g.2570737dupCA2739276177KCNQ1c.326dup (p.Pro110AlafsTer?)
c.478-12698dup (n.478-12698dup)
c.587dup (p.Pro197AlafsTer?)
c.206dup (p.Pro70AlafsTer?)
c.124-12698dup (n.124-12698dup)
 ClinVar
11g.2570737A=CA1948240051KCNQ1c.326A= (p.Lys109=)
c.478-12698A= (n.478-12698A=)
c.587A= (p.Lys196=)
c.206A= (p.Lys69=)
c.124-12698A= (n.124-12698A=)
11g.2570737A>CCA007655KCNQ1c.326A>C (p.Lys109Thr)
c.478-12698A>C (n.478-12698A>C)
c.587A>C (p.Lys196Thr)
c.206A>C (p.Lys69Thr)
c.124-12698A>C (n.124-12698A>C)
 ClinVar dbSNP
11g.2570737A>GCA379130047KCNQ1c.326A>G (p.Lys109Arg)
c.478-12698A>G (n.478-12698A>G)
c.587A>G (p.Lys196Arg)
c.206A>G (p.Lys69Arg)
c.124-12698A>G (n.124-12698A>G)
11g.2570737A>TCA379130049KCNQ1c.326A>T (p.Lys109Met)
c.478-12698A>T (n.478-12698A>T)
c.587A>T (p.Lys196Met)
c.206A>T (p.Lys69Met)
c.124-12698A>T (n.124-12698A>T)
11g.2570738G>ACA472037896KCNQ1c.327G>A (p.Lys109=)
c.478-12697G>A (n.478-12697G>A)
c.588G>A (p.Lys196=)
c.207G>A (p.Lys69=)
c.124-12697G>A (n.124-12697G>A)
 ClinVar
11g.2570738G>CCA379130051KCNQ1c.327G>C (p.Lys109Asn)
c.478-12697G>C (n.478-12697G>C)
c.588G>C (p.Lys196Asn)
c.207G>C (p.Lys69Asn)
c.124-12697G>C (n.124-12697G>C)
11g.2570738G=CA1948240058KCNQ1c.327G= (p.Lys109=)
c.478-12697G= (n.478-12697G=)
c.588G= (p.Lys196=)
c.207G= (p.Lys69=)
c.124-12697G= (n.124-12697G=)
11g.2570738G>TCA379130053KCNQ1c.327G>T (p.Lys109Asn)
c.478-12697G>T (n.478-12697G>T)
c.588G>T (p.Lys196Asn)
c.207G>T (p.Lys69Asn)
c.124-12697G>T (n.124-12697G>T)
 dbSNP gnomAD v4
11g.2570739C>ACA379130056KCNQ1c.328C>A (p.Pro110Thr)
c.478-12696C>A (n.478-12696C>A)
c.589C>A (p.Pro197Thr)
c.208C>A (p.Pro70Thr)
c.124-12696C>A (n.124-12696C>A)
11g.2570739C=CA1948240066KCNQ1c.328C= (p.Pro110=)
c.478-12696C= (n.478-12696C=)
c.589C= (p.Pro197=)
c.208C= (p.Pro70=)
c.124-12696C= (n.124-12696C=)
11g.2570739C>GCA379130059KCNQ1c.328C>G (p.Pro110Ala)
c.478-12696C>G (n.478-12696C>G)
c.589C>G (p.Pro197Ala)
c.208C>G (p.Pro70Ala)
c.124-12696C>G (n.124-12696C>G)
11g.2570739C>TCA007665KCNQ1c.328C>T (p.Pro110Ser)
c.478-12696C>T (n.478-12696C>T)
c.589C>T (p.Pro197Ser)
c.208C>T (p.Pro70Ser)
c.124-12696C>T (n.124-12696C>T)
 ClinVar dbSNP
11g.2570741delCA2612002654KCNQ1c.330del (p.Ile111PhefsTer?)
c.478-12694del (n.478-12694del)
c.591del (p.Ile198PhefsTer?)
c.210del (p.Ile71PhefsTer?)
c.124-12694del (n.124-12694del)
 gnomAD v4

Number of alleles fetched