Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2527927G>A | CA379121097 | KCNQ1 | n.184-1G>A c.126-1G>A (n.126-1G>A) c.387-1G>A (n.387-1G>A) c.6-1G>A (n.6-1G>A) c.33-1G>A (n.33-1G>A) n.256-1G>A c.177-1G>A (n.177-1G>A) | |
11 | g.2527927G>C | CA379121099 | KCNQ1 | n.184-1G>C c.126-1G>C (n.126-1G>C) c.387-1G>C (n.387-1G>C) c.6-1G>C (n.6-1G>C) c.33-1G>C (n.33-1G>C) n.256-1G>C c.177-1G>C (n.177-1G>C) | ClinVar |
11 | g.2527927G>T | CA379121101 | KCNQ1 | n.184-1G>T c.126-1G>T (n.126-1G>T) c.387-1G>T (n.387-1G>T) c.6-1G>T (n.6-1G>T) c.33-1G>T (n.33-1G>T) n.256-1G>T c.177-1G>T (n.177-1G>T) | |
11 | g.2527928C>A | CA379121106 | KCNQ1 | n.184C>A c.126C>A (p.Val42=) c.387C>A (p.Val129=) c.6C>A (p.Asp2Glu) c.33C>A (p.Val11=) n.256C>A c.177C>A (p.Gly59=) | |
11 | g.2527928C>G | CA379121113 | KCNQ1 | n.184C>G c.126C>G (p.Val42=) c.387C>G (p.Val129=) c.6C>G (p.Asp2Glu) c.33C>G (p.Val11=) n.256C>G c.177C>G (p.Gly59=) | |
11 | g.2527928C>T | CA472038211 | KCNQ1 | n.184C>T c.126C>T (p.Val42=) c.387C>T (p.Val129=) c.6C>T (p.Asp2=) c.33C>T (p.Val11=) n.256C>T c.177C>T (p.Gly59=) | |
11 | g.2527929T>A | CA379121118 | KCNQ1 | n.185T>A c.127T>A (p.Phe43Ile) c.388T>A (p.Phe130Ile) c.7T>A (p.Phe3Ile) c.34T>A (p.Phe12Ile) n.257T>A c.178T>A (p.Phe60Ile) | |
11 | g.2527929T>C | CA379121128 | KCNQ1 | n.185T>C c.127T>C (p.Phe43Leu) c.388T>C (p.Phe130Leu) c.7T>C (p.Phe3Leu) c.34T>C (p.Phe12Leu) n.257T>C c.178T>C (p.Phe60Leu) | |
11 | g.2527929T>G | CA379121139 | KCNQ1 | n.185T>G c.127T>G (p.Phe43Val) c.388T>G (p.Phe130Val) c.7T>G (p.Phe3Val) c.34T>G (p.Phe12Val) n.257T>G c.178T>G (p.Phe60Val) | |
11 | g.2527930del | CA2574728110 | KCNQ1 | n.186del c.128del (p.Phe43SerfsTer?) c.389del (p.Phe130SerfsTer?) c.8del (p.Phe3SerfsTer?) c.35del (p.Phe12SerfsTer?) n.258del c.179del (p.Phe60SerfsTer?) | |
11 | g.2527930T>A | CA379121143 | KCNQ1 | n.186T>A c.128T>A (p.Phe43Tyr) c.389T>A (p.Phe130Tyr) c.8T>A (p.Phe3Tyr) c.35T>A (p.Phe12Tyr) n.258T>A c.179T>A (p.Phe60Tyr) | |
11 | g.2527930T>C | CA379121145 | KCNQ1 | n.186T>C c.128T>C (p.Phe43Ser) c.389T>C (p.Phe130Ser) c.8T>C (p.Phe3Ser) c.35T>C (p.Phe12Ser) n.258T>C c.179T>C (p.Phe60Ser) | |
11 | g.2527930T>G | CA379121144 | KCNQ1 | n.186T>G c.128T>G (p.Phe43Cys) c.389T>G (p.Phe130Cys) c.8T>G (p.Phe3Cys) c.35T>G (p.Phe12Cys) n.258T>G c.179T>G (p.Phe60Cys) | |
11 | g.2527931C>A | CA379121146 | KCNQ1 | n.187C>A c.129C>A (p.Phe43Leu) c.390C>A (p.Phe130Leu) c.9C>A (p.Phe3Leu) c.36C>A (p.Phe12Leu) n.259C>A c.180C>A (p.Phe60Leu) | |
11 | g.2527931C>G | CA379121150 | KCNQ1 | n.187C>G c.129C>G (p.Phe43Leu) c.390C>G (p.Phe130Leu) c.9C>G (p.Phe3Leu) c.36C>G (p.Phe12Leu) n.259C>G c.180C>G (p.Phe60Leu) | |
11 | g.2527931C>T | CA472038212 | KCNQ1 | n.187C>T c.129C>T (p.Phe43=) c.390C>T (p.Phe130=) c.9C>T (p.Phe3=) c.36C>T (p.Phe12=) n.259C>T c.180C>T (p.Phe60=) | COSMIC COSMIC |
11 | g.2527932C>A | CA379121159 | KCNQ1 | n.188C>A c.130C>A (p.Leu44Ile) c.391C>A (p.Leu131Ile) c.10C>A (p.Leu4Ile) c.37C>A (p.Leu13Ile) n.260C>A c.181C>A (p.Leu61Ile) | |
11 | g.2527932C>G | CA379121163 | KCNQ1 | n.188C>G c.130C>G (p.Leu44Val) c.391C>G (p.Leu131Val) c.10C>G (p.Leu4Val) c.37C>G (p.Leu13Val) n.260C>G c.181C>G (p.Leu61Val) | |
11 | g.2527932C>T | CA379121161 | KCNQ1 | n.188C>T c.130C>T (p.Leu44Phe) c.391C>T (p.Leu131Phe) c.10C>T (p.Leu4Phe) c.37C>T (p.Leu13Phe) n.260C>T c.181C>T (p.Leu61Phe) | gnomAD v4 |
11 | g.2527933T>A | CA379121166 | KCNQ1 | n.189T>A c.131T>A (p.Leu44His) c.392T>A (p.Leu131His) c.11T>A (p.Leu4His) c.38T>A (p.Leu13His) n.261T>A c.182T>A (p.Leu61His) | |
11 | g.2527933T>C | CA006966 | KCNQ1 | n.189T>C c.131T>C (p.Leu44Pro) c.392T>C (p.Leu131Pro) c.11T>C (p.Leu4Pro) c.38T>C (p.Leu13Pro) n.261T>C c.182T>C (p.Leu61Pro) | ClinVar dbSNP |
11 | g.2527933T>G | CA379121170 | KCNQ1 | n.189T>G c.131T>G (p.Leu44Arg) c.392T>G (p.Leu131Arg) c.11T>G (p.Leu4Arg) c.38T>G (p.Leu13Arg) n.261T>G c.182T>G (p.Leu61Arg) | |
11 | g.2527933T= | CA1948196740 | KCNQ1 | n.189T= c.131T= (p.Leu44=) c.392T= (p.Leu131=) c.11T= (p.Leu4=) c.38T= (p.Leu13=) n.261T= c.182T= (p.Leu61=) | |
11 | g.2527934C>A | CA472038213 | KCNQ1 | n.190C>A c.132C>A (p.Leu44=) c.393C>A (p.Leu131=) c.12C>A (p.Leu4=) c.39C>A (p.Leu13=) n.262C>A c.183C>A (p.Leu61=) | |
11 | g.2527934C= | CA1948196741 | KCNQ1 | n.190C= c.132C= (p.Leu44=) c.393C= (p.Leu131=) c.12C= (p.Leu4=) c.39C= (p.Leu13=) n.262C= c.183C= (p.Leu61=) | |
11 | g.2527934C>G | CA472038214 | KCNQ1 | n.190C>G c.132C>G (p.Leu44=) c.393C>G (p.Leu131=) c.12C>G (p.Leu4=) c.39C>G (p.Leu13=) n.262C>G c.183C>G (p.Leu61=) | |
11 | g.2527934C>T | CA472038215 | KCNQ1 | n.190C>T c.132C>T (p.Leu44=) c.393C>T (p.Leu131=) c.12C>T (p.Leu4=) c.39C>T (p.Leu13=) n.262C>T c.183C>T (p.Leu61=) | dbSNP |
11 | g.2527935A= | CA1948196742 | KCNQ1 | n.191A= c.133A= (p.Ile45=) c.394A= (p.Ile132=) c.13A= (p.Ile5=) c.40A= (p.Ile14=) n.263A= c.184A= (p.Ile62=) | |
11 | g.2527935A>C | CA006975 | KCNQ1 | n.191A>C c.133A>C (p.Ile45Leu) c.394A>C (p.Ile132Leu) c.13A>C (p.Ile5Leu) c.40A>C (p.Ile14Leu) n.263A>C c.184A>C (p.Ile62Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527935A>G | CA379121176 | KCNQ1 | n.191A>G c.133A>G (p.Ile45Val) c.394A>G (p.Ile132Val) c.13A>G (p.Ile5Val) c.40A>G (p.Ile14Val) n.263A>G c.184A>G (p.Ile62Val) | gnomAD v4 |
11 | g.2527935A>T | CA379121177 | KCNQ1 | n.191A>T c.133A>T (p.Ile45Phe) c.394A>T (p.Ile132Phe) c.13A>T (p.Ile5Phe) c.40A>T (p.Ile14Phe) n.263A>T c.184A>T (p.Ile62Phe) | |
11 | g.2527936T>A | CA379121183 | KCNQ1 | n.192T>A c.134T>A (p.Ile45Asn) c.395T>A (p.Ile132Asn) c.14T>A (p.Ile5Asn) c.41T>A (p.Ile14Asn) n.264T>A c.185T>A (p.Ile62Asn) | |
11 | g.2527936T>C | CA379121187 | KCNQ1 | n.192T>C c.134T>C (p.Ile45Thr) c.395T>C (p.Ile132Thr) c.14T>C (p.Ile5Thr) c.41T>C (p.Ile14Thr) n.264T>C c.185T>C (p.Ile62Thr) | |
11 | g.2527936T>G | CA379121196 | KCNQ1 | n.192T>G c.134T>G (p.Ile45Ser) c.395T>G (p.Ile132Ser) c.14T>G (p.Ile5Ser) c.41T>G (p.Ile14Ser) n.264T>G c.185T>G (p.Ile62Ser) | |
11 | g.2527937C>A | CA472038216 | KCNQ1 | n.193C>A c.135C>A (p.Ile45=) c.396C>A (p.Ile132=) c.15C>A (p.Ile5=) c.42C>A (p.Ile14=) n.265C>A c.186C>A (p.Ile62=) | |
11 | g.2527937C= | CA1948196743 | KCNQ1 | n.193C= c.135C= (p.Ile45=) c.396C= (p.Ile132=) c.15C= (p.Ile5=) c.42C= (p.Ile14=) n.265C= c.186C= (p.Ile62=) | |
11 | g.2527937C>G | CA379121197 | KCNQ1 | n.193C>G c.135C>G (p.Ile45Met) c.396C>G (p.Ile132Met) c.15C>G (p.Ile5Met) c.42C>G (p.Ile14Met) n.265C>G c.186C>G (p.Ile62Met) | gnomAD v4 |
11 | g.2527937C>T | CA472038217 | KCNQ1 | n.193C>T c.135C>T (p.Ile45=) c.396C>T (p.Ile132=) c.15C>T (p.Ile5=) c.42C>T (p.Ile14=) n.265C>T c.186C>T (p.Ile62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.2527938G>A | CA006983 | KCNQ1 | n.194G>A c.136G>A (p.Val46Ile) c.397G>A (p.Val133Ile) c.16G>A (p.Val6Ile) c.43G>A (p.Val15Ile) n.266G>A c.187G>A (p.Val63Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527938G>C | CA379121198 | KCNQ1 | n.194G>C c.136G>C (p.Val46Leu) c.397G>C (p.Val133Leu) c.16G>C (p.Val6Leu) c.43G>C (p.Val15Leu) n.266G>C c.187G>C (p.Val63Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527938G= | CA1948196744 | KCNQ1 | n.194G= c.136G= (p.Val46=) c.397G= (p.Val133=) c.16G= (p.Val6=) c.43G= (p.Val15=) n.266G= c.187G= (p.Val63=) | |
11 | g.2527938G>T | CA379121199 | KCNQ1 | n.194G>T c.136G>T (p.Val46Phe) c.397G>T (p.Val133Phe) c.16G>T (p.Val6Phe) c.43G>T (p.Val15Phe) n.266G>T c.187G>T (p.Val63Phe) | |
11 | g.2527939del | CA2580615599 | KCNQ1 | n.195del c.137del (p.Val46AlafsTer?) c.398del (p.Val133AlafsTer?) c.17del (p.Val6AlafsTer?) c.44del (p.Val15AlafsTer?) n.267del c.188del (p.Val63AlafsTer?) | ClinVar |
11 | g.2527939T>A | CA379121200 | KCNQ1 | n.195T>A c.137T>A (p.Val46Asp) c.398T>A (p.Val133Asp) c.17T>A (p.Val6Asp) c.44T>A (p.Val15Asp) n.267T>A c.188T>A (p.Val63Asp) | |
11 | g.2527939T>C | CA379121206 | KCNQ1 | n.195T>C c.137T>C (p.Val46Ala) c.398T>C (p.Val133Ala) c.17T>C (p.Val6Ala) c.44T>C (p.Val15Ala) n.267T>C c.188T>C (p.Val63Ala) | ClinVar |
11 | g.2527939T>G | CA379121204 | KCNQ1 | n.195T>G c.137T>G (p.Val46Gly) c.398T>G (p.Val133Gly) c.17T>G (p.Val6Gly) c.44T>G (p.Val15Gly) n.267T>G c.188T>G (p.Val63Gly) | |
11 | g.2527940C>A | CA472038220 | KCNQ1 | n.196C>A c.138C>A (p.Val46=) c.399C>A (p.Val133=) c.18C>A (p.Val6=) c.45C>A (p.Val15=) n.268C>A c.189C>A (p.Val63=) | dbSNP |
11 | g.2527940C>G | CA472038218 | KCNQ1 | n.196C>G c.138C>G (p.Val46=) c.399C>G (p.Val133=) c.18C>G (p.Val6=) c.45C>G (p.Val15=) n.268C>G c.189C>G (p.Val63=) | |
11 | g.2527940C>T | CA472038219 | KCNQ1 | n.196C>T c.138C>T (p.Val46=) c.399C>T (p.Val133=) c.18C>T (p.Val6=) c.45C>T (p.Val15=) n.268C>T c.189C>T (p.Val63=) | |
11 | g.2527941C>A | CA379121211 | KCNQ1 | n.197C>A c.139C>A (p.Leu47Met) c.400C>A (p.Leu134Met) c.19C>A (p.Leu7Met) c.46C>A (p.Leu16Met) n.269C>A c.190C>A (p.Leu64Met) | dbSNP |
11 | g.2527941C= | CA1948196745 | KCNQ1 | n.197C= c.139C= (p.Leu47=) c.400C= (p.Leu134=) c.19C= (p.Leu7=) c.46C= (p.Leu16=) n.269C= c.190C= (p.Leu64=) | |
11 | g.2527941C>G | CA379121222 | KCNQ1 | n.197C>G c.139C>G (p.Leu47Val) c.400C>G (p.Leu134Val) c.19C>G (p.Leu7Val) c.46C>G (p.Leu16Val) n.269C>G c.190C>G (p.Leu64Val) | |
11 | g.2527941C>T | CA472038221 | KCNQ1 | n.197C>T c.139C>T (p.Leu47=) c.400C>T (p.Leu134=) c.19C>T (p.Leu7=) c.46C>T (p.Leu16=) n.269C>T c.190C>T (p.Leu64=) | |
11 | g.2527942T>A | CA379121225 | KCNQ1 | n.198T>A c.140T>A (p.Leu47Gln) c.401T>A (p.Leu134Gln) c.20T>A (p.Leu7Gln) c.47T>A (p.Leu16Gln) n.270T>A c.191T>A (p.Leu64Gln) | |
11 | g.2527942T>C | CA006992 | KCNQ1 | n.198T>C c.140T>C (p.Leu47Pro) c.401T>C (p.Leu134Pro) c.20T>C (p.Leu7Pro) c.47T>C (p.Leu16Pro) n.270T>C c.191T>C (p.Leu64Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.2527942T>G | CA379121232 | KCNQ1 | n.198T>G c.140T>G (p.Leu47Arg) c.401T>G (p.Leu134Arg) c.20T>G (p.Leu7Arg) c.47T>G (p.Leu16Arg) n.270T>G c.191T>G (p.Leu64Arg) | |
11 | g.2527942T= | CA1948196747 | KCNQ1 | n.198T= c.140T= (p.Leu47=) c.401T= (p.Leu134=) c.20T= (p.Leu7=) c.47T= (p.Leu16=) n.270T= c.191T= (p.Leu64=) | |
11 | g.2527942_2527943delinsTG | CA1948196746 | KCNQ1 | n.198_199delinsTG c.140_141delinsTG (p.Leu47=) c.401_402delinsTG (p.Leu134=) c.20_21delinsTG (p.Leu7=) c.47_48delinsTG (p.Leu16=) n.270_271delinsTG c.191_192delinsTG (p.Leu64=) | |
11 | g.2527943G>A | CA472038222 | KCNQ1 | n.199G>A c.141G>A (p.Leu47=) c.402G>A (p.Leu134=) c.21G>A (p.Leu7=) c.48G>A (p.Leu16=) n.271G>A c.192G>A (p.Leu64=) | |
11 | g.2527943G>C | CA472038223 | KCNQ1 | n.199G>C c.141G>C (p.Leu47=) c.402G>C (p.Leu134=) c.21G>C (p.Leu7=) c.48G>C (p.Leu16=) n.271G>C c.192G>C (p.Leu64=) | ClinVar dbSNP gnomAD v4 |
11 | g.2527943G= | CA1948196748 | KCNQ1 | n.199G= c.141G= (p.Leu47=) c.402G= (p.Leu134=) c.21G= (p.Leu7=) c.48G= (p.Leu16=) n.271G= c.192G= (p.Leu64=) | |
11 | g.2527943G>T | CA472038224 | KCNQ1 | n.199G>T c.141G>T (p.Leu47=) c.402G>T (p.Leu134=) c.21G>T (p.Leu7=) c.48G>T (p.Leu16=) n.271G>T c.192G>T (p.Leu64=) | |
11 | g.2527944del | CA007001 | KCNQ1 | n.200del c.142del (p.Val48SerfsTer?) c.403del (p.Val135SerfsTer?) c.22del (p.Val8SerfsTer?) c.49del (p.Val17SerfsTer?) n.272del c.193del (p.Val65SerfsTer?) | ClinVar dbSNP gnomAD v4 |
11 | g.2527944G>A | CA379121234 | KCNQ1 | n.200G>A c.142G>A (p.Val48Ile) c.403G>A (p.Val135Ile) c.22G>A (p.Val8Ile) c.49G>A (p.Val17Ile) n.272G>A c.193G>A (p.Val65Ile) | |
11 | g.2527944G>C | CA379121237 | KCNQ1 | n.200G>C c.142G>C (p.Val48Leu) c.403G>C (p.Val135Leu) c.22G>C (p.Val8Leu) c.49G>C (p.Val17Leu) n.272G>C c.193G>C (p.Val65Leu) | |
11 | g.2527944G>T | CA379121240 | KCNQ1 | n.200G>T c.142G>T (p.Val48Phe) c.403G>T (p.Val135Phe) c.22G>T (p.Val8Phe) c.49G>T (p.Val17Phe) n.272G>T c.193G>T (p.Val65Phe) | |
11 | g.2527945T>A | CA379121253 | KCNQ1 | n.201T>A c.143T>A (p.Val48Asp) c.404T>A (p.Val135Asp) c.23T>A (p.Val8Asp) c.50T>A (p.Val17Asp) n.273T>A c.194T>A (p.Val65Asp) | gnomAD v4 |
11 | g.2527945T>C | CA379121250 | KCNQ1 | n.201T>C c.143T>C (p.Val48Ala) c.404T>C (p.Val135Ala) c.23T>C (p.Val8Ala) c.50T>C (p.Val17Ala) n.273T>C c.194T>C (p.Val65Ala) | |
11 | g.2527945T>G | CA379121244 | KCNQ1 | n.201T>G c.143T>G (p.Val48Gly) c.404T>G (p.Val135Gly) c.23T>G (p.Val8Gly) c.50T>G (p.Val17Gly) n.273T>G c.194T>G (p.Val65Gly) | |
11 | g.2527946C>A | CA472038225 | KCNQ1 | n.202C>A c.144C>A (p.Val48=) c.405C>A (p.Val135=) c.24C>A (p.Val8=) c.51C>A (p.Val17=) n.274C>A c.195C>A (p.Val65=) | |
11 | g.2527946C>G | CA472038227 | KCNQ1 | n.202C>G c.144C>G (p.Val48=) c.405C>G (p.Val135=) c.24C>G (p.Val8=) c.51C>G (p.Val17=) n.274C>G c.195C>G (p.Val65=) | |
11 | g.2527946C>T | CA472038226 | KCNQ1 | n.202C>T c.144C>T (p.Val48=) c.405C>T (p.Val135=) c.24C>T (p.Val8=) c.51C>T (p.Val17=) n.274C>T c.195C>T (p.Val65=) | |
11 | g.2527947T>A | CA379121256 | KCNQ1 | n.203T>A c.145T>A (p.Cys49Ser) c.406T>A (p.Cys136Ser) c.25T>A (p.Cys9Ser) c.52T>A (p.Cys18Ser) n.275T>A c.196T>A (p.Cys66Ser) | |
11 | g.2527947T>C | CA379121257 | KCNQ1 | n.203T>C c.145T>C (p.Cys49Arg) c.406T>C (p.Cys136Arg) c.25T>C (p.Cys9Arg) c.52T>C (p.Cys18Arg) n.275T>C c.196T>C (p.Cys66Arg) | |
11 | g.2527947T>G | CA379121263 | KCNQ1 | n.203T>G c.145T>G (p.Cys49Gly) c.406T>G (p.Cys136Gly) c.25T>G (p.Cys9Gly) c.52T>G (p.Cys18Gly) n.275T>G c.196T>G (p.Cys66Gly) | |
11 | g.2527948G>A | CA379121276 | KCNQ1 | n.204G>A c.146G>A (p.Cys49Tyr) c.407G>A (p.Cys136Tyr) c.26G>A (p.Cys9Tyr) c.53G>A (p.Cys18Tyr) n.276G>A c.197G>A (p.Cys66Tyr) | gnomAD v4 |
11 | g.2527948G>C | CA379121278 | KCNQ1 | n.204G>C c.146G>C (p.Cys49Ser) c.407G>C (p.Cys136Ser) c.26G>C (p.Cys9Ser) c.53G>C (p.Cys18Ser) n.276G>C c.197G>C (p.Cys66Ser) | |
11 | g.2527948G= | CA1948196749 | KCNQ1 | n.204G= c.146G= (p.Cys49=) c.407G= (p.Cys136=) c.26G= (p.Cys9=) c.53G= (p.Cys18=) n.276G= c.197G= (p.Cys66=) | |
11 | g.2527948G>T | CA007007 | KCNQ1 | n.204G>T c.146G>T (p.Cys49Phe) c.407G>T (p.Cys136Phe) c.26G>T (p.Cys9Phe) c.53G>T (p.Cys18Phe) n.276G>T c.197G>T (p.Cys66Phe) | ClinVar dbSNP gnomAD v4 |
11 | g.2527949C>A | CA379121281 | KCNQ1 | n.205C>A c.147C>A (p.Cys49Ter) c.408C>A (p.Cys136Ter) c.27C>A (p.Cys9Ter) c.54C>A (p.Cys18Ter) n.277C>A c.198C>A (p.Cys66Ter) | gnomAD v4 |
11 | g.2527949C= | CA1948196750 | KCNQ1 | n.205C= c.147C= (p.Cys49=) c.408C= (p.Cys136=) c.27C= (p.Cys9=) c.54C= (p.Cys18=) n.277C= c.198C= (p.Cys66=) | |
11 | g.2527949C>G | CA379121285 | KCNQ1 | n.205C>G c.147C>G (p.Cys49Trp) c.408C>G (p.Cys136Trp) c.27C>G (p.Cys9Trp) c.54C>G (p.Cys18Trp) n.277C>G c.198C>G (p.Cys66Trp) | |
11 | g.2527949C>T | CA472038228 | KCNQ1 | n.205C>T c.147C>T (p.Cys49=) c.408C>T (p.Cys136=) c.27C>T (p.Cys9=) c.54C>T (p.Cys18=) n.277C>T c.198C>T (p.Cys66=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527950C>A | CA379121290 | KCNQ1 | n.206C>A c.148C>A (p.Leu50Ile) c.409C>A (p.Leu137Ile) c.28C>A (p.Leu10Ile) c.55C>A (p.Leu19Ile) n.278C>A c.199C>A (p.Leu67Ile) | |
11 | g.2527950C= | CA1948196751 | KCNQ1 | n.206C= c.148C= (p.Leu50=) c.409C= (p.Leu137=) c.28C= (p.Leu10=) c.55C= (p.Leu19=) n.278C= c.199C= (p.Leu67=) | |
11 | g.2527950C>G | CA379121292 | KCNQ1 | n.206C>G c.148C>G (p.Leu50Val) c.409C>G (p.Leu137Val) c.28C>G (p.Leu10Val) c.55C>G (p.Leu19Val) n.278C>G c.199C>G (p.Leu67Val) | |
11 | g.2527950C>T | CA007018 | KCNQ1 | n.206C>T c.148C>T (p.Leu50Phe) c.409C>T (p.Leu137Phe) c.28C>T (p.Leu10Phe) c.55C>T (p.Leu19Phe) n.278C>T c.199C>T (p.Leu67Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2527951T>A | CA379121306 | KCNQ1 | n.207T>A c.149T>A (p.Leu50His) c.410T>A (p.Leu137His) c.29T>A (p.Leu10His) c.56T>A (p.Leu19His) n.279T>A c.200T>A (p.Leu67His) | |
11 | g.2527951T>C | CA379121302 | KCNQ1 | n.207T>C c.149T>C (p.Leu50Pro) c.410T>C (p.Leu137Pro) c.29T>C (p.Leu10Pro) c.56T>C (p.Leu19Pro) n.279T>C c.200T>C (p.Leu67Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527951T>G | CA379121298 | KCNQ1 | n.207T>G c.149T>G (p.Leu50Arg) c.410T>G (p.Leu137Arg) c.29T>G (p.Leu10Arg) c.56T>G (p.Leu19Arg) n.279T>G c.200T>G (p.Leu67Arg) | |
11 | g.2527951T= | CA1948196752 | KCNQ1 | n.207T= c.149T= (p.Leu50=) c.410T= (p.Leu137=) c.29T= (p.Leu10=) c.56T= (p.Leu19=) n.279T= c.200T= (p.Leu67=) | |
11 | g.2527952C>A | CA216319409 | KCNQ1 | n.208C>A c.150C>A (p.Leu50=) c.411C>A (p.Leu137=) c.30C>A (p.Leu10=) c.57C>A (p.Leu19=) n.280C>A c.201C>A (p.Leu67=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527952C= | CA1948196753 | KCNQ1 | n.208C= c.150C= (p.Leu50=) c.411C= (p.Leu137=) c.30C= (p.Leu10=) c.57C= (p.Leu19=) n.280C= c.201C= (p.Leu67=) | |
11 | g.2527952C>G | CA472038229 | KCNQ1 | n.208C>G c.150C>G (p.Leu50=) c.411C>G (p.Leu137=) c.30C>G (p.Leu10=) c.57C>G (p.Leu19=) n.280C>G c.201C>G (p.Leu67=) | |
11 | g.2527952C>T | CA472038230 | KCNQ1 | n.208C>T c.150C>T (p.Leu50=) c.411C>T (p.Leu137=) c.30C>T (p.Leu10=) c.57C>T (p.Leu19=) n.280C>T c.201C>T (p.Leu67=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527953A>C | CA379121309 | KCNQ1 | n.209A>C c.151A>C (p.Ile51Leu) c.412A>C (p.Ile138Leu) c.31A>C (p.Ile11Leu) c.58A>C (p.Ile20Leu) n.281A>C c.202A>C (p.Ile68Leu) | |
11 | g.2527953A>G | CA379121312 | KCNQ1 | n.209A>G c.151A>G (p.Ile51Val) c.412A>G (p.Ile138Val) c.31A>G (p.Ile11Val) c.58A>G (p.Ile20Val) n.281A>G c.202A>G (p.Ile68Val) | |
11 | g.2527953A>T | CA379121315 | KCNQ1 | n.209A>T c.151A>T (p.Ile51Phe) c.412A>T (p.Ile138Phe) c.31A>T (p.Ile11Phe) c.58A>T (p.Ile20Phe) n.281A>T c.202A>T (p.Ile68Phe) | |
11 | g.2527954T>A | CA379121319 | KCNQ1 | n.210T>A c.152T>A (p.Ile51Asn) c.413T>A (p.Ile138Asn) c.32T>A (p.Ile11Asn) c.59T>A (p.Ile20Asn) n.282T>A c.203T>A (p.Ile68Asn) | |
11 | g.2527954T>C | CA379121323 | KCNQ1 | n.210T>C c.152T>C (p.Ile51Thr) c.413T>C (p.Ile138Thr) c.32T>C (p.Ile11Thr) c.59T>C (p.Ile20Thr) n.282T>C c.203T>C (p.Ile68Thr) | |
11 | g.2527954T>G | CA379121326 | KCNQ1 | n.210T>G c.152T>G (p.Ile51Ser) c.413T>G (p.Ile138Ser) c.32T>G (p.Ile11Ser) c.59T>G (p.Ile20Ser) n.282T>G c.203T>G (p.Ile68Ser) | |
11 | g.2527955C>A | CA472038231 | KCNQ1 | n.211C>A c.153C>A (p.Ile51=) c.414C>A (p.Ile138=) c.33C>A (p.Ile11=) c.60C>A (p.Ile20=) n.283C>A c.204C>A (p.Ile68=) | |
11 | g.2527955C>G | CA379121328 | KCNQ1 | n.211C>G c.153C>G (p.Ile51Met) c.414C>G (p.Ile138Met) c.33C>G (p.Ile11Met) c.60C>G (p.Ile20Met) n.283C>G c.204C>G (p.Ile68Met) | |
11 | g.2527955C>T | CA472038232 | KCNQ1 | n.211C>T c.153C>T (p.Ile51=) c.414C>T (p.Ile138=) c.33C>T (p.Ile11=) c.60C>T (p.Ile20=) n.283C>T c.204C>T (p.Ile68=) | |
11 | g.2527956T>A | CA379121333 | KCNQ1 | n.212T>A c.154T>A (p.Phe52Ile) c.415T>A (p.Phe139Ile) c.34T>A (p.Phe12Ile) c.61T>A (p.Phe21Ile) n.284T>A c.205T>A (p.Phe69Ile) | |
11 | g.2527956T>C | CA379121338 | KCNQ1 | n.212T>C c.154T>C (p.Phe52Leu) c.415T>C (p.Phe139Leu) c.34T>C (p.Phe12Leu) c.61T>C (p.Phe21Leu) n.284T>C c.205T>C (p.Phe69Leu) | dbSNP |
11 | g.2527956T>G | CA379121342 | KCNQ1 | n.212T>G c.154T>G (p.Phe52Val) c.415T>G (p.Phe139Val) c.34T>G (p.Phe12Val) c.61T>G (p.Phe21Val) n.284T>G c.205T>G (p.Phe69Val) | |
11 | g.2527956T= | CA1948196754 | KCNQ1 | n.212T= c.154T= (p.Phe52=) c.415T= (p.Phe139=) c.34T= (p.Phe12=) c.61T= (p.Phe21=) n.284T= c.205T= (p.Phe69=) | |
11 | g.2527957T>A | CA379121346 | KCNQ1 | n.213T>A c.155T>A (p.Phe52Tyr) c.416T>A (p.Phe139Tyr) c.35T>A (p.Phe12Tyr) c.62T>A (p.Phe21Tyr) n.285T>A c.206T>A (p.Phe69Tyr) | |
11 | g.2527957T>C | CA379121348 | KCNQ1 | n.213T>C c.155T>C (p.Phe52Ser) c.416T>C (p.Phe139Ser) c.35T>C (p.Phe12Ser) c.62T>C (p.Phe21Ser) n.285T>C c.206T>C (p.Phe69Ser) | |
11 | g.2527957T>G | CA379121349 | KCNQ1 | n.213T>G c.155T>G (p.Phe52Cys) c.416T>G (p.Phe139Cys) c.35T>G (p.Phe12Cys) c.62T>G (p.Phe21Cys) n.285T>G c.206T>G (p.Phe69Cys) | |
11 | g.2527958C>A | CA379121356 | KCNQ1 | n.214C>A c.156C>A (p.Phe52Leu) c.417C>A (p.Phe139Leu) c.36C>A (p.Phe12Leu) c.63C>A (p.Phe21Leu) n.286C>A c.207C>A (p.Phe69Leu) | |
11 | g.2527958C= | CA1948196755 | KCNQ1 | n.214C= c.156C= (p.Phe52=) c.417C= (p.Phe139=) c.36C= (p.Phe12=) c.63C= (p.Phe21=) n.286C= c.207C= (p.Phe69=) | |
11 | g.2527958C>G | CA379121359 | KCNQ1 | n.214C>G c.156C>G (p.Phe52Leu) c.417C>G (p.Phe139Leu) c.36C>G (p.Phe12Leu) c.63C>G (p.Phe21Leu) n.286C>G c.207C>G (p.Phe69Leu) | gnomAD v4 |
11 | g.2527958C>T | CA037090 | KCNQ1 | n.214C>T c.156C>T (p.Phe52=) c.417C>T (p.Phe139=) c.36C>T (p.Phe12=) c.63C>T (p.Phe21=) n.286C>T c.207C>T (p.Phe69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527959A= | CA1948196756 | KCNQ1 | n.215A= c.157A= (p.Ser53=) c.418A= (p.Ser140=) c.37A= (p.Ser13=) c.64A= (p.Ser22=) n.287A= c.208A= (p.Ser70=) | |
11 | g.2527959A>C | CA379121364 | KCNQ1 | n.215A>C c.157A>C (p.Ser53Arg) c.418A>C (p.Ser140Arg) c.37A>C (p.Ser13Arg) c.64A>C (p.Ser22Arg) n.287A>C c.208A>C (p.Ser70Arg) | |
11 | g.2527959A>G | CA007037 | KCNQ1 | n.215A>G c.157A>G (p.Ser53Gly) c.418A>G (p.Ser140Gly) c.37A>G (p.Ser13Gly) c.64A>G (p.Ser22Gly) n.287A>G c.208A>G (p.Ser70Gly) | ClinVar dbSNP |
11 | g.2527959A>T | CA379121367 | KCNQ1 | n.215A>T c.157A>T (p.Ser53Cys) c.418A>T (p.Ser140Cys) c.37A>T (p.Ser13Cys) c.64A>T (p.Ser22Cys) n.287A>T c.208A>T (p.Ser70Cys) | |
11 | g.2527960G>A | CA379121368 | KCNQ1 | n.216G>A c.158G>A (p.Ser53Asn) c.419G>A (p.Ser140Asn) c.38G>A (p.Ser13Asn) c.65G>A (p.Ser22Asn) n.288G>A c.209G>A (p.Ser70Asn) | |
11 | g.2527960G>C | CA379121369 | KCNQ1 | n.216G>C c.158G>C (p.Ser53Thr) c.419G>C (p.Ser140Thr) c.38G>C (p.Ser13Thr) c.65G>C (p.Ser22Thr) n.288G>C c.209G>C (p.Ser70Thr) | |
11 | g.2527960G>T | CA379121370 | KCNQ1 | n.216G>T c.158G>T (p.Ser53Ile) c.419G>T (p.Ser140Ile) c.38G>T (p.Ser13Ile) c.65G>T (p.Ser22Ile) n.288G>T c.209G>T (p.Ser70Ile) | |
11 | g.2527961C>A | CA379121372 | KCNQ1 | n.217C>A c.159C>A (p.Ser53Arg) c.420C>A (p.Ser140Arg) c.39C>A (p.Ser13Arg) c.66C>A (p.Ser22Arg) n.289C>A c.210C>A (p.Ser70Arg) | ClinVar |
11 | g.2527961C= | CA1948196757 | KCNQ1 | n.217C= c.159C= (p.Ser53=) c.420C= (p.Ser140=) c.39C= (p.Ser13=) c.66C= (p.Ser22=) n.289C= c.210C= (p.Ser70=) | |
11 | g.2527961C>G | CA379121375 | KCNQ1 | n.217C>G c.159C>G (p.Ser53Arg) c.420C>G (p.Ser140Arg) c.39C>G (p.Ser13Arg) c.66C>G (p.Ser22Arg) n.289C>G c.210C>G (p.Ser70Arg) | |
11 | g.2527961C>T | CA037102 | KCNQ1 | n.217C>T c.159C>T (p.Ser53=) c.420C>T (p.Ser140=) c.39C>T (p.Ser13=) c.66C>T (p.Ser22=) n.289C>T c.210C>T (p.Ser70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527962G>A | CA007045 | KCNQ1 | n.218G>A c.160G>A (p.Val54Met) c.421G>A (p.Val141Met) c.40G>A (p.Val14Met) c.67G>A (p.Val23Met) n.290G>A c.211G>A (p.Val71Met) | ClinVar dbSNP |
11 | g.2527962G>C | CA379121377 | KCNQ1 | n.218G>C c.160G>C (p.Val54Leu) c.421G>C (p.Val141Leu) c.40G>C (p.Val14Leu) c.67G>C (p.Val23Leu) n.290G>C c.211G>C (p.Val71Leu) | |
11 | g.2527962G= | CA1948196758 | KCNQ1 | n.218G= c.160G= (p.Val54=) c.421G= (p.Val141=) c.40G= (p.Val14=) c.67G= (p.Val23=) n.290G= c.211G= (p.Val71=) | |
11 | g.2527962G>T | CA379121378 | KCNQ1 | n.218G>T c.160G>T (p.Val54Leu) c.421G>T (p.Val141Leu) c.40G>T (p.Val14Leu) c.67G>T (p.Val23Leu) n.290G>T c.211G>T (p.Val71Leu) | |
11 | g.2527963T>A | CA379121379 | KCNQ1 | n.219T>A c.161T>A (p.Val54Glu) c.422T>A (p.Val141Glu) c.41T>A (p.Val14Glu) c.68T>A (p.Val23Glu) n.291T>A c.212T>A (p.Val71Glu) | |
11 | g.2527963T>C | CA379121382 | KCNQ1 | n.219T>C c.161T>C (p.Val54Ala) c.422T>C (p.Val141Ala) c.41T>C (p.Val14Ala) c.68T>C (p.Val23Ala) n.291T>C c.212T>C (p.Val71Ala) | |
11 | g.2527963T>G | CA379121384 | KCNQ1 | n.219T>G c.161T>G (p.Val54Gly) c.422T>G (p.Val141Gly) c.41T>G (p.Val14Gly) c.68T>G (p.Val23Gly) n.291T>G c.212T>G (p.Val71Gly) | |
11 | g.2527964G>A | CA472038233 | KCNQ1 | n.220G>A c.162G>A (p.Val54=) c.423G>A (p.Val141=) c.42G>A (p.Val14=) c.69G>A (p.Val23=) n.292G>A c.213G>A (p.Val71=) | |
11 | g.2527964G>C | CA472038234 | KCNQ1 | n.220G>C c.162G>C (p.Val54=) c.423G>C (p.Val141=) c.42G>C (p.Val14=) c.69G>C (p.Val23=) n.292G>C c.213G>C (p.Val71=) | |
11 | g.2527964G>T | CA472038235 | KCNQ1 | n.220G>T c.162G>T (p.Val54=) c.423G>T (p.Val141=) c.42G>T (p.Val14=) c.69G>T (p.Val23=) n.292G>T c.213G>T (p.Val71=) | |
11 | g.2527966_2527980del | CA2612002633 | KCNQ1 | c.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 |
11 | g.2527965C>A | CA379121386 | KCNQ1 | n.221C>A c.163C>A (p.Leu55Met) c.424C>A (p.Leu142Met) c.43C>A (p.Leu15Met) c.70C>A (p.Leu24Met) n.293C>A c.214C>A (p.Leu72Met) | |
11 | g.2527965C>G | CA379121388 | KCNQ1 | n.221C>G c.163C>G (p.Leu55Val) c.424C>G (p.Leu142Val) c.43C>G (p.Leu15Val) c.70C>G (p.Leu24Val) n.293C>G c.214C>G (p.Leu72Val) | |
11 | g.2527965C>T | CA472038236 | KCNQ1 | n.221C>T c.163C>T (p.Leu55=) c.424C>T (p.Leu142=) c.43C>T (p.Leu15=) c.70C>T (p.Leu24=) n.293C>T c.214C>T (p.Leu72=) | |
11 | g.2527965_2527966delinsCT | CA1948196759 | KCNQ1 | n.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=) | |
11 | g.2527966del | CA007054 | KCNQ1 | n.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 |
11 | g.2527966T>A | CA379121391 | KCNQ1 | n.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) | |
11 | g.2527966T>C | CA379121401 | KCNQ1 | n.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) | |
11 | g.2527966T>G | CA379121404 | KCNQ1 | n.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) | |
11 | g.2527967G>A | CA472038237 | KCNQ1 | n.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 |
11 | g.2527967G>C | CA472038239 | KCNQ1 | n.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 |
11 | g.2527967G>T | CA472038238 | KCNQ1 | n.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=) | |
11 | g.2527968T>A | CA379121409 | KCNQ1 | n.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) | |
11 | g.2527968T>C | CA379121411 | KCNQ1 | n.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) | |
11 | g.2527968T>G | CA379121413 | KCNQ1 | n.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) | |
11 | g.2527969C>A | CA379121417 | KCNQ1 | n.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 |
11 | g.2527969C= | CA1948196760 | KCNQ1 | n.225C= c.167C= (p.Ser56=) c.428C= (p.Ser143=) c.47C= (p.Ser16=) c.74C= (p.Ser25=) n.297C= c.218C= (p.Ser73=) | |
11 | g.2527969C>G | CA379121419 | KCNQ1 | n.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) | |
11 | g.2527969C>T | CA007061 | KCNQ1 | n.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 |
11 | g.2527970C>A | CA472038240 | KCNQ1 | n.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=) | |
11 | g.2527970C>G | CA472038241 | KCNQ1 | n.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=) | |
11 | g.2527970C>T | CA472038242 | KCNQ1 | n.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=) | |
11 | g.2527971A= | CA1948196761 | KCNQ1 | n.227A= c.169A= (p.Thr57=) c.430A= (p.Thr144=) c.49A= (p.Thr17=) c.76A= (p.Thr26=) n.299A= c.220A= (p.Thr74=) | |
11 | g.2527971A>C | CA379121423 | KCNQ1 | n.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) | |
11 | g.2527971A>G | CA007072 | KCNQ1 | n.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 |
11 | g.2527971A>T | CA379121424 | KCNQ1 | n.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) | |
11 | g.2527972C>A | CA379121427 | KCNQ1 | n.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) | |
11 | g.2527972C>G | CA379121433 | KCNQ1 | n.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) | |
11 | g.2527972C>T | CA379121429 | KCNQ1 | n.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) | |
11 | g.2527973del | CA2695212957 | KCNQ1 | n.229del c.171del (p.Ile58SerfsTer?) c.432del (p.Ile145SerfsTer?) c.51del (p.Ile18SerfsTer?) c.78del (p.Ile27SerfsTer?) n.301del c.222del (p.Thr74=) | |
11 | g.2527973C>A | CA472038243 | KCNQ1 | n.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=) | |
11 | g.2527973C>G | CA472038244 | KCNQ1 | n.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=) | |
11 | g.2527973C>T | CA472038245 | KCNQ1 | n.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=) | |
11 | g.2527974A= | CA1948196762 | KCNQ1 | c.172A= (p.Ile58=) c.433A= (p.Ile145=) c.52A= (p.Ile18=) c.79A= (p.Ile27=) n.302A= | |
11 | g.2527974A>C | CA379121448 | KCNQ1 | c.172A>C (p.Ile58Leu) c.433A>C (p.Ile145Leu) c.52A>C (p.Ile18Leu) c.79A>C (p.Ile27Leu) n.302A>C | dbSNP |
11 | g.2527974A>G | CA379121450 | KCNQ1 | c.172A>G (p.Ile58Val) c.433A>G (p.Ile145Val) c.52A>G (p.Ile18Val) c.79A>G (p.Ile27Val) n.302A>G | |
11 | g.2527974A>T | CA379121451 | KCNQ1 | c.172A>T (p.Ile58Phe) c.433A>T (p.Ile145Phe) c.52A>T (p.Ile18Phe) c.79A>T (p.Ile27Phe) n.302A>T | |
11 | g.2527975T>A | CA379121453 | KCNQ1 | c.173T>A (p.Ile58Asn) c.434T>A (p.Ile145Asn) c.53T>A (p.Ile18Asn) c.80T>A (p.Ile27Asn) n.303T>A | |
11 | g.2527975T>C | CA379121456 | KCNQ1 | c.173T>C (p.Ile58Thr) c.434T>C (p.Ile145Thr) c.53T>C (p.Ile18Thr) c.80T>C (p.Ile27Thr) n.303T>C | gnomAD v4 |
11 | g.2527975T>G | CA379121459 | KCNQ1 | c.173T>G (p.Ile58Ser) c.434T>G (p.Ile145Ser) c.53T>G (p.Ile18Ser) c.80T>G (p.Ile27Ser) n.303T>G | |
11 | g.2527976C>A | CA472038246 | KCNQ1 | c.174C>A (p.Ile58=) c.435C>A (p.Ile145=) c.54C>A (p.Ile18=) c.81C>A (p.Ile27=) n.304C>A | gnomAD v4 |
11 | g.2527976C= | CA1948196763 | KCNQ1 | c.174C= (p.Ile58=) c.435C= (p.Ile145=) c.54C= (p.Ile18=) c.81C= (p.Ile27=) n.304C= | |
11 | g.2527976C>G | CA379121463 | KCNQ1 | c.174C>G (p.Ile58Met) c.435C>G (p.Ile145Met) c.54C>G (p.Ile18Met) c.81C>G (p.Ile27Met) n.304C>G | |
11 | g.2527976C>T | CA007082 | KCNQ1 | c.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 |
11 | g.2527977G>A | CA007090 | KCNQ1 | c.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 |
11 | g.2527977G>C | CA379121473 | KCNQ1 | c.175G>C (p.Glu59Gln) c.436G>C (p.Glu146Gln) c.55G>C (p.Glu19Gln) c.82G>C (p.Glu28Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527977G= | CA1948196764 | KCNQ1 | c.175G= (p.Glu59=) c.436G= (p.Glu146=) c.55G= (p.Glu19=) c.82G= (p.Glu28=) | |
11 | g.2527977G>T | CA379121484 | KCNQ1 | c.175G>T (p.Glu59Ter) c.436G>T (p.Glu146Ter) c.55G>T (p.Glu19Ter) c.82G>T (p.Glu28Ter) | |
11 | g.2527978A= | CA1948196765 | KCNQ1 | c.176A= (p.Glu59=) c.437A= (p.Glu146=) c.56A= (p.Glu19=) c.83A= (p.Glu28=) | |
11 | g.2527978A>C | CA379121891 | KCNQ1 | c.176A>C (p.Glu59Ala) c.437A>C (p.Glu146Ala) c.56A>C (p.Glu19Ala) c.83A>C (p.Glu28Ala) | |
11 | g.2527978A>G | CA16619306 | KCNQ1 | c.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 |
11 | g.2527978A>T | CA379121893 | KCNQ1 | c.176A>T (p.Glu59Val) c.437A>T (p.Glu146Val) c.56A>T (p.Glu19Val) c.83A>T (p.Glu28Val) | |
11 | g.2527979G>A | CA472038254 | KCNQ1 | c.177G>A (p.Glu59=) c.438G>A (p.Glu146=) c.57G>A (p.Glu19=) c.84G>A (p.Glu28=) | gnomAD v4 |
11 | g.2527979G>C | CA379121894 | KCNQ1 | c.177G>C (p.Glu59Asp) c.438G>C (p.Glu146Asp) c.57G>C (p.Glu19Asp) c.84G>C (p.Glu28Asp) | |
11 | g.2527979G>T | CA379121895 | KCNQ1 | c.177G>T (p.Glu59Asp) c.438G>T (p.Glu146Asp) c.57G>T (p.Glu19Asp) c.84G>T (p.Glu28Asp) | |
11 | g.2527980C>A | CA379121896 | KCNQ1 | c.178C>A (p.Gln60Lys) c.439C>A (p.Gln147Lys) c.58C>A (p.Gln20Lys) c.85C>A (p.Gln29Lys) | |
11 | g.2527980C>G | CA379121898 | KCNQ1 | c.178C>G (p.Gln60Glu) c.439C>G (p.Gln147Glu) c.58C>G (p.Gln20Glu) c.85C>G (p.Gln29Glu) | |
11 | g.2527980C>T | CA379121901 | KCNQ1 | c.178C>T (p.Gln60Ter) c.439C>T (p.Gln147Ter) c.58C>T (p.Gln20Ter) c.85C>T (p.Gln29Ter) | |
11 | g.2527981A= | CA1948196766 | KCNQ1 | c.179A= (p.Gln60=) c.440A= (p.Gln147=) c.59A= (p.Gln20=) c.86A= (p.Gln29=) | |
11 | g.2527981A>C | CA379121910 | KCNQ1 | c.179A>C (p.Gln60Pro) c.440A>C (p.Gln147Pro) c.59A>C (p.Gln20Pro) c.86A>C (p.Gln29Pro) | |
11 | g.2527981A>G | CA007099 | KCNQ1 | c.179A>G (p.Gln60Arg) c.440A>G (p.Gln147Arg) c.59A>G (p.Gln20Arg) c.86A>G (p.Gln29Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527981A>T | CA379121912 | KCNQ1 | c.179A>T (p.Gln60Leu) c.440A>T (p.Gln147Leu) c.59A>T (p.Gln20Leu) c.86A>T (p.Gln29Leu) | ClinVar dbSNP |
11 | g.2527982G>A | CA472038255 | KCNQ1 | c.180G>A (p.Gln60=) c.441G>A (p.Gln147=) c.60G>A (p.Gln20=) c.87G>A (p.Gln29=) | |
11 | g.2527982G>C | CA379121914 | KCNQ1 | c.180G>C (p.Gln60His) c.441G>C (p.Gln147His) c.60G>C (p.Gln20His) c.87G>C (p.Gln29His) | |
11 | g.2527982G>T | CA379121916 | KCNQ1 | c.180G>T (p.Gln60His) c.441G>T (p.Gln147His) c.60G>T (p.Gln20His) c.87G>T (p.Gln29His) | |
11 | g.2527983T>A | CA379121917 | KCNQ1 | c.181T>A (p.Tyr61Asn) c.442T>A (p.Tyr148Asn) c.61T>A (p.Tyr21Asn) c.88T>A (p.Tyr30Asn) | |
11 | g.2527983T>C | CA379121918 | KCNQ1 | c.181T>C (p.Tyr61His) c.442T>C (p.Tyr148His) c.61T>C (p.Tyr21His) c.88T>C (p.Tyr30His) | |
11 | g.2527983T>G | CA379121921 | KCNQ1 | c.181T>G (p.Tyr61Asp) c.442T>G (p.Tyr148Asp) c.61T>G (p.Tyr21Asp) c.88T>G (p.Tyr30Asp) | |
11 | g.2527983_2527984delinsTA | CA1948196767 | KCNQ1 | c.181_182delinsTA (p.Tyr61=) c.442_443delinsTA (p.Tyr148=) c.61_62delinsTA (p.Tyr21=) c.88_89delinsTA (p.Tyr30=) | |
11 | g.2527984del | CA10575750 | KCNQ1 | c.182del (p.Tyr61LeufsTer?) c.443del (p.Tyr148LeufsTer?) c.62del (p.Tyr21LeufsTer?) c.89del (p.Tyr30LeufsTer?) | ClinVar dbSNP |
11 | g.2527984A>C | CA379121927 | KCNQ1 | c.182A>C (p.Tyr61Ser) c.443A>C (p.Tyr148Ser) c.62A>C (p.Tyr21Ser) c.89A>C (p.Tyr30Ser) | |
11 | g.2527984A>G | CA379121930 | KCNQ1 | c.182A>G (p.Tyr61Cys) c.443A>G (p.Tyr148Cys) c.62A>G (p.Tyr21Cys) c.89A>G (p.Tyr30Cys) | |
11 | g.2527984A>T | CA379121925 | KCNQ1 | c.182A>T (p.Tyr61Phe) c.443A>T (p.Tyr148Phe) c.62A>T (p.Tyr21Phe) c.89A>T (p.Tyr30Phe) | |
11 | g.2527984dup | CA2574728111 | KCNQ1 | c.182dup (p.Tyr61Ter) c.443dup (p.Tyr148Ter) c.62dup (p.Tyr21Ter) c.89dup (p.Tyr30Ter) | |
11 | g.2527985T>A | CA379121934 | KCNQ1 | c.183T>A (p.Tyr61Ter) c.444T>A (p.Tyr148Ter) c.63T>A (p.Tyr21Ter) c.90T>A (p.Tyr30Ter) | |
11 | g.2527985T>C | CA472038256 | KCNQ1 | c.183T>C (p.Tyr61=) c.444T>C (p.Tyr148=) c.63T>C (p.Tyr21=) c.90T>C (p.Tyr30=) | gnomAD v4 |
11 | g.2527985T>G | CA379121933 | KCNQ1 | c.183T>G (p.Tyr61Ter) c.444T>G (p.Tyr148Ter) c.63T>G (p.Tyr21Ter) c.90T>G (p.Tyr30Ter) | |
11 | g.2527986G>A | CA379121937 | KCNQ1 | c.184G>A (p.Ala62Thr) c.445G>A (p.Ala149Thr) c.64G>A (p.Ala22Thr) c.91G>A (p.Ala31Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527986G>C | CA379121936 | KCNQ1 | c.184G>C (p.Ala62Pro) c.445G>C (p.Ala149Pro) c.64G>C (p.Ala22Pro) c.91G>C (p.Ala31Pro) | |
11 | g.2527986G= | CA1948196768 | KCNQ1 | c.184G= (p.Ala62=) c.445G= (p.Ala149=) c.64G= (p.Ala22=) c.91G= (p.Ala31=) | |
11 | g.2527986G>T | CA379121939 | KCNQ1 | c.184G>T (p.Ala62Ser) c.445G>T (p.Ala149Ser) c.64G>T (p.Ala22Ser) c.91G>T (p.Ala31Ser) | |
11 | g.2527987C>A | CA379121941 | KCNQ1 | c.185C>A (p.Ala62Asp) c.446C>A (p.Ala149Asp) c.65C>A (p.Ala22Asp) c.92C>A (p.Ala31Asp) | |
11 | g.2527987C= | CA1948196769 | KCNQ1 | c.185C= (p.Ala62=) c.446C= (p.Ala149=) c.65C= (p.Ala22=) c.92C= (p.Ala31=) | |
11 | g.2527987C>G | CA379121959 | KCNQ1 | c.185C>G (p.Ala62Gly) c.446C>G (p.Ala149Gly) c.65C>G (p.Ala22Gly) c.92C>G (p.Ala31Gly) | |
11 | g.2527987C>T | CA216319515 | KCNQ1 | c.185C>T (p.Ala62Val) c.446C>T (p.Ala149Val) c.65C>T (p.Ala22Val) c.92C>T (p.Ala31Val) | dbSNP gnomAD v4 |
11 | g.2527988C>A | CA472038257 | KCNQ1 | c.186C>A (p.Ala62=) c.447C>A (p.Ala149=) c.66C>A (p.Ala22=) c.93C>A (p.Ala31=) | |
11 | g.2527988C= | CA1948196770 | KCNQ1 | c.186C= (p.Ala62=) c.447C= (p.Ala149=) c.66C= (p.Ala22=) c.93C= (p.Ala31=) | |
11 | g.2527988C>G | CA472038258 | KCNQ1 | c.186C>G (p.Ala62=) c.447C>G (p.Ala149=) c.66C>G (p.Ala22=) c.93C>G (p.Ala31=) | |
11 | g.2527988C>T | CA007107 | KCNQ1 | c.186C>T (p.Ala62=) c.447C>T (p.Ala149=) c.66C>T (p.Ala22=) c.93C>T (p.Ala31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527989G>A | CA007116 | KCNQ1 | c.187G>A (p.Ala63Thr) c.448G>A (p.Ala150Thr) c.67G>A (p.Ala23Thr) c.94G>A (p.Ala32Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527989G>C | CA379121962 | KCNQ1 | c.187G>C (p.Ala63Pro) c.448G>C (p.Ala150Pro) c.67G>C (p.Ala23Pro) c.94G>C (p.Ala32Pro) | |
11 | g.2527989G= | CA1948196771 | KCNQ1 | c.187G= (p.Ala63=) c.448G= (p.Ala150=) c.67G= (p.Ala23=) c.94G= (p.Ala32=) | |
11 | g.2527989G>T | CA379121964 | KCNQ1 | c.187G>T (p.Ala63Ser) c.448G>T (p.Ala150Ser) c.67G>T (p.Ala23Ser) c.94G>T (p.Ala32Ser) | gnomAD v4 |
11 | g.2527990C>A | CA379121967 | KCNQ1 | c.188C>A (p.Ala63Asp) c.449C>A (p.Ala150Asp) c.68C>A (p.Ala23Asp) c.95C>A (p.Ala32Asp) | |
11 | g.2527990C= | CA1948196772 | KCNQ1 | c.188C= (p.Ala63=) c.449C= (p.Ala150=) c.68C= (p.Ala23=) c.95C= (p.Ala32=) | |
11 | g.2527990C>G | CA007123 | KCNQ1 | c.188C>G (p.Ala63Gly) c.449C>G (p.Ala150Gly) c.68C>G (p.Ala23Gly) c.95C>G (p.Ala32Gly) | ClinVar dbSNP |
11 | g.2527990C>T | CA379121970 | KCNQ1 | c.188C>T (p.Ala63Val) c.449C>T (p.Ala150Val) c.68C>T (p.Ala23Val) c.95C>T (p.Ala32Val) | dbSNP gnomAD v4 |
11 | g.2527992del | CA2840352977 | KCNQ1 | c.190del (p.Leu64TrpfsTer?) c.451del (p.Leu151TrpfsTer?) c.70del (p.Leu24TrpfsTer?) c.97del (p.Leu33TrpfsTer?) | |
11 | g.2527991C>A | CA472038259 | KCNQ1 | c.189C>A (p.Ala63=) c.450C>A (p.Ala150=) c.69C>A (p.Ala23=) c.96C>A (p.Ala32=) | gnomAD v4 |
11 | g.2527991C>G | CA472038260 | KCNQ1 | c.189C>G (p.Ala63=) c.450C>G (p.Ala150=) c.69C>G (p.Ala23=) c.96C>G (p.Ala32=) | |
11 | g.2527991C>T | CA472038261 | KCNQ1 | c.189C>T (p.Ala63=) c.450C>T (p.Ala150=) c.69C>T (p.Ala23=) c.96C>T (p.Ala32=) | |
11 | g.2527991_2527993delinsCCT | CA1948196773 | KCNQ1 | c.189_191delinsCCT (p.Ala63=) c.450_452delinsCCT (p.Ala150=) c.69_71delinsCCT (p.Ala23=) c.96_98delinsCCT (p.Ala32=) | |
11 | g.2527992C>A | CA379121973 | KCNQ1 | c.190C>A (p.Leu64Met) c.451C>A (p.Leu151Met) c.70C>A (p.Leu24Met) c.97C>A (p.Leu33Met) | |
11 | g.2527992C>G | CA379121976 | KCNQ1 | c.190C>G (p.Leu64Val) c.451C>G (p.Leu151Val) c.70C>G (p.Leu24Val) c.97C>G (p.Leu33Val) | |
11 | g.2527992C>T | CA472038262 | KCNQ1 | c.190C>T (p.Leu64=) c.451C>T (p.Leu151=) c.70C>T (p.Leu24=) c.97C>T (p.Leu33=) | |
11 | g.2527992_2527993del | CA007133 | KCNQ1 | c.190_191del (p.Leu64GlyfsTer?) c.451_452del (p.Leu151GlyfsTer?) c.70_71del (p.Leu24GlyfsTer?) c.97_98del (p.Leu33GlyfsTer?) | ClinVar dbSNP |
11 | g.2527993T>A | CA379121979 | KCNQ1 | c.191T>A (p.Leu64Gln) c.452T>A (p.Leu151Gln) c.71T>A (p.Leu24Gln) c.98T>A (p.Leu33Gln) | |
11 | g.2527993T>C | CA379121982 | KCNQ1 | c.191T>C (p.Leu64Pro) c.452T>C (p.Leu151Pro) c.71T>C (p.Leu24Pro) c.98T>C (p.Leu33Pro) | COSMIC |
11 | g.2527993T>G | CA379121986 | KCNQ1 | c.191T>G (p.Leu64Arg) c.452T>G (p.Leu151Arg) c.71T>G (p.Leu24Arg) c.98T>G (p.Leu33Arg) | |
11 | g.2527994G>A | CA472038263 | KCNQ1 | c.192G>A (p.Leu64=) c.453G>A (p.Leu151=) c.72G>A (p.Leu24=) c.99G>A (p.Leu33=) | |
11 | g.2527994G>C | CA472038264 | KCNQ1 | c.192G>C (p.Leu64=) c.453G>C (p.Leu151=) c.72G>C (p.Leu24=) c.99G>C (p.Leu33=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527994G= | CA1948196774 | KCNQ1 | c.192G= (p.Leu64=) c.453G= (p.Leu151=) c.72G= (p.Leu24=) c.99G= (p.Leu33=) | |
11 | g.2527994G>T | CA472038265 | KCNQ1 | c.192G>T (p.Leu64=) c.453G>T (p.Leu151=) c.72G>T (p.Leu24=) c.99G>T (p.Leu33=) | |
11 | g.2527995G>A | CA379122001 | KCNQ1 | c.193G>A (p.Ala65Thr) c.454G>A (p.Ala152Thr) c.73G>A (p.Ala25Thr) c.100G>A (p.Ala34Thr) | |
11 | g.2527995G>C | CA379121999 | KCNQ1 | c.193G>C (p.Ala65Pro) c.454G>C (p.Ala152Pro) c.73G>C (p.Ala25Pro) c.100G>C (p.Ala34Pro) | |
11 | g.2527995G>T | CA379121989 | KCNQ1 | c.193G>T (p.Ala65Ser) c.454G>T (p.Ala152Ser) c.73G>T (p.Ala25Ser) c.100G>T (p.Ala34Ser) | |
11 | g.2527996C>A | CA379122005 | KCNQ1 | c.194C>A (p.Ala65Asp) c.455C>A (p.Ala152Asp) c.74C>A (p.Ala25Asp) c.101C>A (p.Ala34Asp) | |
11 | g.2527996C>G | CA379122013 | KCNQ1 | c.194C>G (p.Ala65Gly) c.455C>G (p.Ala152Gly) c.74C>G (p.Ala25Gly) c.101C>G (p.Ala34Gly) | |
11 | g.2527996C>T | CA379122018 | KCNQ1 | c.194C>T (p.Ala65Val) c.455C>T (p.Ala152Val) c.74C>T (p.Ala25Val) c.101C>T (p.Ala34Val) | |
11 | g.2527997C>A | CA472038266 | KCNQ1 | c.195C>A (p.Ala65=) c.456C>A (p.Ala152=) c.75C>A (p.Ala25=) c.102C>A (p.Ala34=) | |
11 | g.2527997C>G | CA472038268 | KCNQ1 | c.195C>G (p.Ala65=) c.456C>G (p.Ala152=) c.75C>G (p.Ala25=) c.102C>G (p.Ala34=) | |
11 | g.2527997C>T | CA472038267 | KCNQ1 | c.195C>T (p.Ala65=) c.456C>T (p.Ala152=) c.75C>T (p.Ala25=) c.102C>T (p.Ala34=) | |
11 | g.2527998A>C | CA379122019 | KCNQ1 | c.196A>C (p.Thr66Pro) c.457A>C (p.Thr153Pro) c.76A>C (p.Thr26Pro) c.103A>C (p.Thr35Pro) | |
11 | g.2527998A>G | CA379122020 | KCNQ1 | c.196A>G (p.Thr66Ala) c.457A>G (p.Thr153Ala) c.76A>G (p.Thr26Ala) c.103A>G (p.Thr35Ala) | |
11 | g.2527998A>T | CA379122021 | KCNQ1 | c.196A>T (p.Thr66Ser) c.457A>T (p.Thr153Ser) c.76A>T (p.Thr26Ser) c.103A>T (p.Thr35Ser) | |
11 | g.2527999C>A | CA379122024 | KCNQ1 | c.197C>A (p.Thr66Lys) c.458C>A (p.Thr153Lys) c.77C>A (p.Thr26Lys) c.104C>A (p.Thr35Lys) | gnomAD v4 |
11 | g.2527999C= | CA1948196775 | KCNQ1 | c.197C= (p.Thr66=) c.458C= (p.Thr153=) c.77C= (p.Thr26=) c.104C= (p.Thr35=) | |
11 | g.2527999C>G | CA379122028 | KCNQ1 | c.197C>G (p.Thr66Arg) c.458C>G (p.Thr153Arg) c.77C>G (p.Thr26Arg) c.104C>G (p.Thr35Arg) | |
11 | g.2527999C>T | CA007144 | KCNQ1 | c.197C>T (p.Thr66Met) c.458C>T (p.Thr153Met) c.77C>T (p.Thr26Met) c.104C>T (p.Thr35Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528000G>A | CA007153 | KCNQ1 | c.198G>A (p.Thr66=) c.459G>A (p.Thr153=) c.78G>A (p.Thr26=) c.105G>A (p.Thr35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528000G>C | CA472038269 | KCNQ1 | c.198G>C (p.Thr66=) c.459G>C (p.Thr153=) c.78G>C (p.Thr26=) c.105G>C (p.Thr35=) | |
11 | g.2528000G= | CA1948196776 | KCNQ1 | c.198G= (p.Thr66=) c.459G= (p.Thr153=) c.78G= (p.Thr26=) c.105G= (p.Thr35=) | |
11 | g.2528000G>T | CA472038270 | KCNQ1 | c.198G>T (p.Thr66=) c.459G>T (p.Thr153=) c.78G>T (p.Thr26=) c.105G>T (p.Thr35=) | |
11 | g.2528003del | CA2838970749 | KCNQ1 | c.201del (p.Thr68LeufsTer?) c.462del (p.Thr155LeufsTer?) c.81del (p.Thr28LeufsTer?) c.108del (p.Thr37LeufsTer?) | |
11 | g.2528001G>A | CA379122036 | KCNQ1 | c.199G>A (p.Gly67Arg) c.460G>A (p.Gly154Arg) c.79G>A (p.Gly27Arg) c.106G>A (p.Gly36Arg) | COSMIC |
11 | g.2528001G>C | CA379122037 | KCNQ1 | c.199G>C (p.Gly67Arg) c.460G>C (p.Gly154Arg) c.79G>C (p.Gly27Arg) c.106G>C (p.Gly36Arg) | gnomAD v4 |
11 | g.2528001G>T | CA379122039 | KCNQ1 | c.199G>T (p.Gly67Trp) c.460G>T (p.Gly154Trp) c.79G>T (p.Gly27Trp) c.106G>T (p.Gly36Trp) | |
11 | g.2528002G>A | CA216319548 | KCNQ1 | c.200G>A (p.Gly67Glu) c.461G>A (p.Gly154Glu) c.80G>A (p.Gly27Glu) c.107G>A (p.Gly36Glu) | dbSNP |
11 | g.2528002G>C | CA379122053 | KCNQ1 | c.200G>C (p.Gly67Ala) c.461G>C (p.Gly154Ala) c.80G>C (p.Gly27Ala) c.107G>C (p.Gly36Ala) | |
11 | g.2528002G= | CA1948196777 | KCNQ1 | c.200G= (p.Gly67=) c.461G= (p.Gly154=) c.80G= (p.Gly27=) c.107G= (p.Gly36=) | |
11 | g.2528002G>T | CA379122043 | KCNQ1 | c.200G>T (p.Gly67Val) c.461G>T (p.Gly154Val) c.80G>T (p.Gly27Val) c.107G>T (p.Gly36Val) | gnomAD v4 |
11 | g.2528003G>A | CA037309 | KCNQ1 | c.201G>A (p.Gly67=) c.462G>A (p.Gly154=) c.81G>A (p.Gly27=) c.108G>A (p.Gly36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2528003G>C | CA472038271 | KCNQ1 | c.201G>C (p.Gly67=) c.462G>C (p.Gly154=) c.81G>C (p.Gly27=) c.108G>C (p.Gly36=) | |
11 | g.2528003G= | CA1948196778 | KCNQ1 | c.201G= (p.Gly67=) c.462G= (p.Gly154=) c.81G= (p.Gly27=) c.108G= (p.Gly36=) | |
11 | g.2528003G>T | CA472038272 | KCNQ1 | c.201G>T (p.Gly67=) c.462G>T (p.Gly154=) c.81G>T (p.Gly27=) c.108G>T (p.Gly36=) | gnomAD v4 |
11 | g.2528004A= | CA1948196780 | KCNQ1 | c.202A= (p.Thr68=) c.463A= (p.Thr155=) c.82A= (p.Thr28=) c.109A= (p.Thr37=) | |
11 | g.2528004A>C | CA379122063 | KCNQ1 | c.202A>C (p.Thr68Pro) c.463A>C (p.Thr155Pro) c.82A>C (p.Thr28Pro) c.109A>C (p.Thr37Pro) | |
11 | g.2528004A>G | CA379122065 | KCNQ1 | c.202A>G (p.Thr68Ala) c.463A>G (p.Thr155Ala) c.82A>G (p.Thr28Ala) c.109A>G (p.Thr37Ala) | dbSNP |
11 | g.2528004A>T | CA379122067 | KCNQ1 | c.202A>T (p.Thr68Ser) c.463A>T (p.Thr155Ser) c.82A>T (p.Thr28Ser) c.109A>T (p.Thr37Ser) | |
11 | g.2528004_2528006delinsACT | CA1948196779 | KCNQ1 | c.202_204delinsACT (p.Thr68=) c.463_465delinsACT (p.Thr155=) c.82_84delinsACT (p.Thr28=) c.109_111delinsACT (p.Thr37=) | |
11 | g.2528005C>A | CA379122070 | KCNQ1 | c.203C>A (p.Thr68Asn) c.464C>A (p.Thr155Asn) c.83C>A (p.Thr28Asn) c.110C>A (p.Thr37Asn) | |
11 | g.2528005C= | CA1948196781 | KCNQ1 | c.203C= (p.Thr68=) c.464C= (p.Thr155=) c.83C= (p.Thr28=) c.110C= (p.Thr37=) | |
11 | g.2528005C>G | CA379122074 | KCNQ1 | c.203C>G (p.Thr68Ser) c.464C>G (p.Thr155Ser) c.83C>G (p.Thr28Ser) c.110C>G (p.Thr37Ser) | |
11 | g.2528005C>T | CA379122076 | KCNQ1 | c.203C>T (p.Thr68Ile) c.464C>T (p.Thr155Ile) c.83C>T (p.Thr28Ile) c.110C>T (p.Thr37Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2528009_2528010del | CA16619307 | KCNQ1 | c.207_208del (p.Phe70LeufsTer?) c.468_469del (p.Phe157LeufsTer?) c.87_88del (p.Phe30LeufsTer?) c.114_115del (p.Phe39LeufsTer?) | ClinVar dbSNP |
11 | g.2528006T>A | CA472038273 | KCNQ1 | c.204T>A (p.Thr68=) c.465T>A (p.Thr155=) c.84T>A (p.Thr28=) c.111T>A (p.Thr37=) | ClinVar dbSNP gnomAD v4 |
11 | g.2528006T>C | CA216319589 | KCNQ1 | c.204T>C (p.Thr68=) c.465T>C (p.Thr155=) c.84T>C (p.Thr28=) c.111T>C (p.Thr37=) | dbSNP |
11 | g.2528006T>G | CA037341 | KCNQ1 | c.204T>G (p.Thr68=) c.465T>G (p.Thr155=) c.84T>G (p.Thr28=) c.111T>G (p.Thr37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528006T= | CA1948196782 | KCNQ1 | c.204T= (p.Thr68=) c.465T= (p.Thr155=) c.84T= (p.Thr28=) c.111T= (p.Thr37=) | |
11 | g.2528007C>A | CA379122080 | KCNQ1 | c.205C>A (p.Leu69Ile) c.466C>A (p.Leu156Ile) c.85C>A (p.Leu29Ile) c.112C>A (p.Leu38Ile) | |
11 | g.2528007C>G | CA379122081 | KCNQ1 | c.205C>G (p.Leu69Val) c.466C>G (p.Leu156Val) c.85C>G (p.Leu29Val) c.112C>G (p.Leu38Val) | COSMIC COSMIC |
11 | g.2528007C>T | CA379122082 | KCNQ1 | c.205C>T (p.Leu69Phe) c.466C>T (p.Leu156Phe) c.85C>T (p.Leu29Phe) c.112C>T (p.Leu38Phe) | COSMIC COSMIC |
11 | g.2528008T>A | CA379122092 | KCNQ1 | c.206T>A (p.Leu69His) c.467T>A (p.Leu156His) c.86T>A (p.Leu29His) c.113T>A (p.Leu38His) | |
11 | g.2528008T>C | CA379122086 | KCNQ1 | c.206T>C (p.Leu69Pro) c.467T>C (p.Leu156Pro) c.86T>C (p.Leu29Pro) c.113T>C (p.Leu38Pro) | ClinVar dbSNP |
11 | g.2528008T>G | CA379122083 | KCNQ1 | c.206T>G (p.Leu69Arg) c.467T>G (p.Leu156Arg) c.86T>G (p.Leu29Arg) c.113T>G (p.Leu38Arg) | ClinVar |
11 | g.2528008T= | CA1948196783 | KCNQ1 | c.206T= (p.Leu69=) c.467T= (p.Leu156=) c.86T= (p.Leu29=) c.113T= (p.Leu38=) | |
11 | g.2528009C>A | CA472038274 | KCNQ1 | c.207C>A (p.Leu69=) c.468C>A (p.Leu156=) c.87C>A (p.Leu29=) c.114C>A (p.Leu38=) | |
11 | g.2528009C= | CA1948196784 | KCNQ1 | c.207C= (p.Leu69=) c.468C= (p.Leu156=) c.87C= (p.Leu29=) c.114C= (p.Leu38=) | |
11 | g.2528009C>G | CA037366 | KCNQ1 | c.207C>G (p.Leu69=) c.468C>G (p.Leu156=) c.87C>G (p.Leu29=) c.114C>G (p.Leu38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2528009C>T | CA472038275 | KCNQ1 | c.207C>T (p.Leu69=) c.468C>T (p.Leu156=) c.87C>T (p.Leu29=) c.114C>T (p.Leu38=) | ClinVar dbSNP gnomAD v4 |
11 | g.2528010T>A | CA379122100 | KCNQ1 | c.208T>A (p.Phe70Ile) c.469T>A (p.Phe157Ile) c.88T>A (p.Phe30Ile) c.115T>A (p.Phe39Ile) | |
11 | g.2528010T>C | CA379122103 | KCNQ1 | c.208T>C (p.Phe70Leu) c.469T>C (p.Phe157Leu) c.88T>C (p.Phe30Leu) c.115T>C (p.Phe39Leu) | ClinVar |
11 | g.2528010T>G | CA379122108 | KCNQ1 | c.208T>G (p.Phe70Val) c.469T>G (p.Phe157Val) c.88T>G (p.Phe30Val) c.115T>G (p.Phe39Val) | |
11 | g.2528011T>A | CA379122113 | KCNQ1 | c.209T>A (p.Phe70Tyr) c.470T>A (p.Phe157Tyr) c.89T>A (p.Phe30Tyr) c.116T>A (p.Phe39Tyr) | |
11 | g.2528011T>C | CA379122119 | KCNQ1 | c.209T>C (p.Phe70Ser) c.470T>C (p.Phe157Ser) c.89T>C (p.Phe30Ser) c.116T>C (p.Phe39Ser) | |
11 | g.2528011T>G | CA007159 | KCNQ1 | c.209T>G (p.Phe70Cys) c.470T>G (p.Phe157Cys) c.89T>G (p.Phe30Cys) c.116T>G (p.Phe39Cys) | ClinVar dbSNP |
11 | g.2528011T= | CA1948196785 | KCNQ1 | c.209T= (p.Phe70=) c.470T= (p.Phe157=) c.89T= (p.Phe30=) c.116T= (p.Phe39=) | |
11 | g.2528012C>A | CA379122133 | KCNQ1 | c.210C>A (p.Phe70Leu) c.471C>A (p.Phe157Leu) c.90C>A (p.Phe30Leu) c.117C>A (p.Phe39Leu) | |
11 | g.2528012C>G | CA379122160 | KCNQ1 | c.210C>G (p.Phe70Leu) c.471C>G (p.Phe157Leu) c.90C>G (p.Phe30Leu) c.117C>G (p.Phe39Leu) | |
11 | g.2528012C>T | CA472038276 | KCNQ1 | c.210C>T (p.Phe70=) c.471C>T (p.Phe157=) c.90C>T (p.Phe30=) c.117C>T (p.Phe39=) | COSMIC COSMIC |
11 | g.2528013T>A | CA379122164 | KCNQ1 | c.211T>A (p.Trp71Arg) c.472T>A (p.Trp158Arg) c.91T>A (p.Trp31Arg) c.118T>A (p.Trp40Arg) | |
11 | g.2528013T>C | CA379122166 | KCNQ1 | c.211T>C (p.Trp71Arg) c.472T>C (p.Trp158Arg) c.91T>C (p.Trp31Arg) c.118T>C (p.Trp40Arg) | gnomAD v4 |
11 | g.2528013T>G | CA379122172 | KCNQ1 | c.211T>G (p.Trp71Gly) c.472T>G (p.Trp158Gly) c.91T>G (p.Trp31Gly) c.118T>G (p.Trp40Gly) | gnomAD v4 |
11 | g.2528013T= | CA1948196786 | KCNQ1 | c.211T= (p.Trp71=) c.472T= (p.Trp158=) c.91T= (p.Trp31=) c.118T= (p.Trp40=) | |
11 | g.2528014G>A | CA379122209 | KCNQ1 | c.212G>A (p.Trp71Ter) c.473G>A (p.Trp158Ter) c.92G>A (p.Trp31Ter) c.119G>A (p.Trp40Ter) | |
11 | g.2528014G>C | CA379122183 | KCNQ1 | c.212G>C (p.Trp71Ser) c.473G>C (p.Trp158Ser) c.92G>C (p.Trp31Ser) c.119G>C (p.Trp40Ser) | |
11 | g.2528014G>T | CA379122175 | KCNQ1 | c.212G>T (p.Trp71Leu) c.473G>T (p.Trp158Leu) c.92G>T (p.Trp31Leu) c.119G>T (p.Trp40Leu) | |
11 | g.2528015dup | CA216319629 | KCNQ1 | c.213dup (p.Met72AspfsTer?) c.474dup (p.Met159AspfsTer?) c.93dup (p.Met32AspfsTer?) c.120dup (p.Met41AspfsTer?) | dbSNP |
11 | g.2528015del | CA2840352978 | KCNQ1 | c.213del (p.Trp71Ter) c.474del (p.Trp158Ter) c.93del (p.Trp31Ter) c.120del (p.Trp40Ter) | |
11 | g.2528015G>A | CA379122222 | KCNQ1 | c.213G>A (p.Trp71Ter) c.474G>A (p.Trp158Ter) c.93G>A (p.Trp31Ter) c.120G>A (p.Trp40Ter) | |
11 | g.2528015G>C | CA379122213 | KCNQ1 | c.213G>C (p.Trp71Cys) c.474G>C (p.Trp158Cys) c.93G>C (p.Trp31Cys) c.120G>C (p.Trp40Cys) | ClinVar gnomAD v4 |
11 | g.2528015G>T | CA379122220 | KCNQ1 | c.213G>T (p.Trp71Cys) c.474G>T (p.Trp158Cys) c.93G>T (p.Trp31Cys) c.120G>T (p.Trp40Cys) | |
11 | g.2528016A= | CA1948196787 | KCNQ1 | c.214A= (p.Met72=) c.475A= (p.Met159=) c.94A= (p.Met32=) c.121A= (p.Met41=) | |
11 | g.2528016A>C | CA379122230 | KCNQ1 | c.214A>C (p.Met72Leu) c.475A>C (p.Met159Leu) c.94A>C (p.Met32Leu) c.121A>C (p.Met41Leu) | |
11 | g.2528016A>G | CA379122237 | KCNQ1 | c.214A>G (p.Met72Val) c.475A>G (p.Met159Val) c.94A>G (p.Met32Val) c.121A>G (p.Met41Val) | |
11 | g.2528016A>T | CA379122240 | KCNQ1 | c.214A>T (p.Met72Leu) c.475A>T (p.Met159Leu) c.94A>T (p.Met32Leu) c.121A>T (p.Met41Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2528017T>A | CA379122243 | KCNQ1 | c.215T>A (p.Met72Lys) c.476T>A (p.Met159Lys) c.95T>A (p.Met32Lys) c.122T>A (p.Met41Lys) | |
11 | g.2528017T>C | CA379122242 | KCNQ1 | c.215T>C (p.Met72Thr) c.476T>C (p.Met159Thr) c.95T>C (p.Met32Thr) c.122T>C (p.Met41Thr) | |
11 | g.2528017T>G | CA379122241 | KCNQ1 | c.215T>G (p.Met72Arg) c.476T>G (p.Met159Arg) c.95T>G (p.Met32Arg) c.122T>G (p.Met41Arg) | |
11 | g.2528018G>A | CA379122244 | KCNQ1 | c.216G>A (p.Met72Ile) c.477G>A (p.Met159Ile) c.96G>A (p.Met32Ile) c.123G>A (p.Met41Ile) | |
11 | g.2528018G>C | CA379122245 | KCNQ1 | c.216G>C (p.Met72Ile) c.477G>C (p.Met159Ile) c.96G>C (p.Met32Ile) c.123G>C (p.Met41Ile) | |
11 | g.2528018G>T | CA379122246 | KCNQ1 | c.216G>T (p.Met72Ile) c.477G>T (p.Met159Ile) c.96G>T (p.Met32Ile) c.123G>T (p.Met41Ile) | |
11 | g.2528019G>A | CA007168 | KCNQ1 | c.216+1G>A (n.216+1G>A) c.477+1G>A (n.477+1G>A) c.96+1G>A (n.96+1G>A) c.123+1G>A (n.123+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528019G>C | CA379122251 | KCNQ1 | c.216+1G>C (n.216+1G>C) c.477+1G>C (n.477+1G>C) c.96+1G>C (n.96+1G>C) c.123+1G>C (n.123+1G>C) | ClinVar |
11 | g.2528019G= | CA1948196792 | KCNQ1 | c.216+1G= (n.216+1G=) c.477+1G= (n.477+1G=) c.96+1G= (n.96+1G=) c.123+1G= (n.123+1G=) | |
11 | g.2528019G>T | CA379122254 | KCNQ1 | c.216+1G>T (n.216+1G>T) c.477+1G>T (n.477+1G>T) c.96+1G>T (n.96+1G>T) c.123+1G>T (n.123+1G>T) | |
11 | g.2528020T>A | CA379122265 | KCNQ1 | c.216+2T>A (n.216+2T>A) c.477+2T>A (n.477+2T>A) c.96+2T>A (n.96+2T>A) c.123+2T>A (n.123+2T>A) | |
11 | g.2528020T>C | CA379122271 | KCNQ1 | c.216+2T>C (n.216+2T>C) c.477+2T>C (n.477+2T>C) c.96+2T>C (n.96+2T>C) c.123+2T>C (n.123+2T>C) | ClinVar dbSNP COSMIC COSMIC |
11 | g.2528020T>G | CA379122270 | KCNQ1 | c.216+2T>G (n.216+2T>G) c.477+2T>G (n.477+2T>G) c.96+2T>G (n.96+2T>G) c.123+2T>G (n.123+2T>G) | |
11 | g.2528022C>A | CA674959832 | KCNQ1 | c.216+4C>A (n.216+4C>A) c.477+4C>A (n.477+4C>A) c.96+4C>A (n.96+4C>A) c.123+4C>A (n.123+4C>A) | dbSNP |
11 | g.2528022C= | CA1948196797 | KCNQ1 | c.216+4C= (n.216+4C=) c.477+4C= (n.477+4C=) c.96+4C= (n.96+4C=) c.123+4C= (n.123+4C=) | |
11 | g.2528022C>G | CA2499220863 | KCNQ1 | c.216+4C>G (n.216+4C>G) c.477+4C>G (n.477+4C>G) c.96+4C>G (n.96+4C>G) c.123+4C>G (n.123+4C>G) | ClinVar dbSNP |
11 | g.2528022C>T | CA037510 | KCNQ1 | c.216+4C>T (n.216+4C>T) c.477+4C>T (n.477+4C>T) c.96+4C>T (n.96+4C>T) c.123+4C>T (n.123+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528023G>A | CA007174 | KCNQ1 | c.216+5G>A (n.216+5G>A) c.477+5G>A (n.477+5G>A) c.96+5G>A (n.96+5G>A) c.123+5G>A (n.123+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528023G>C | CA007183 | KCNQ1 | c.216+5G>C (n.216+5G>C) c.477+5G>C (n.477+5G>C) c.96+5G>C (n.96+5G>C) c.123+5G>C (n.123+5G>C) | ClinVar dbSNP |
11 | g.2528023G= | CA1948196801 | KCNQ1 | c.216+5G= (n.216+5G=) c.477+5G= (n.477+5G=) c.96+5G= (n.96+5G=) c.123+5G= (n.123+5G=) | |
11 | g.2528023G>T | CA2838019449 | KCNQ1 | c.216+5G>T (n.216+5G>T) c.477+5G>T (n.477+5G>T) c.96+5G>T (n.96+5G>T) c.123+5G>T (n.123+5G>T) | |
11 | g.2528024T>A | CA2612002800 | KCNQ1 | c.216+6T>A (n.216+6T>A) c.477+6T>A (n.477+6T>A) c.96+6T>A (n.96+6T>A) c.123+6T>A (n.123+6T>A) | gnomAD v4 |
11 | g.2528026G>T | CA2840352979 | KCNQ1 | c.216+8G>T (n.216+8G>T) c.477+8G>T (n.477+8G>T) c.96+8G>T (n.96+8G>T) c.123+8G>T (n.123+8G>T) | |
11 | g.2528027C>A | CA913188341 | KCNQ1 | c.216+9C>A (n.216+9C>A) c.477+9C>A (n.477+9C>A) c.96+9C>A (n.96+9C>A) c.123+9C>A (n.123+9C>A) | gnomAD v4 |
11 | g.2528027C= | CA1948196817 | KCNQ1 | c.216+9C= (n.216+9C=) c.477+9C= (n.477+9C=) c.96+9C= (n.96+9C=) c.123+9C= (n.123+9C=) | |
11 | g.2528027C>G | CA913188340 | KCNQ1 | c.216+9C>G (n.216+9C>G) c.477+9C>G (n.477+9C>G) c.96+9C>G (n.96+9C>G) c.123+9C>G (n.123+9C>G) | |
11 | g.2528027C>T | CA007191 | KCNQ1 | c.216+9C>T (n.216+9C>T) c.477+9C>T (n.477+9C>T) c.96+9C>T (n.96+9C>T) c.123+9C>T (n.123+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |