Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.223053066T>A | CA351121119 | KCNE4 | c.236T>A (p.Leu79His) c.389T>A (p.Leu130His) n.75+792T>A | |
2 | g.223053066T>C | CA66396441 | KCNE4 | c.236T>C (p.Leu79Pro) c.389T>C (p.Leu130Pro) n.75+792T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053066T>G | CA351121120 | KCNE4 | c.236T>G (p.Leu79Arg) c.389T>G (p.Leu130Arg) n.75+792T>G | |
2 | g.223053066T= | CA1330889607 | KCNE4 | c.236T= (p.Leu79=) c.389T= (p.Leu130=) n.75+792T= | |
2 | g.223053066dup | CA2842461041 | KCNE4 | c.236dup (p.Trp80LeufsTer?) c.389dup (p.Trp131LeufsTer?) n.75+792dup | |
2 | g.223053066_223053069delinsTCTG | CA1330889608 | KCNE4 | c.236_239delinsTCTG (p.Leu79=) c.389_392delinsTCTG (p.Leu130=) n.75+792_75+795delinsTCTG | |
2 | g.223053067C>A | CA431669410 | KCNE4 | c.237C>A (p.Leu79=) c.390C>A (p.Leu130=) n.75+793C>A | |
2 | g.223053067C>G | CA431669408 | KCNE4 | c.237C>G (p.Leu79=) c.390C>G (p.Leu130=) n.75+793C>G | COSMIC |
2 | g.223053067C>T | CA431669407 | KCNE4 | c.237C>T (p.Leu79=) c.390C>T (p.Leu130=) n.75+793C>T | |
2 | g.223053067_223053069del | CA1330889609 | KCNE4 | c.237_239del (p.Trp80del) c.390_392del (p.Trp131del) n.75+793_75+795del | dbSNP |
2 | g.223053068T>A | CA351121121 | KCNE4 | c.238T>A (p.Trp80Arg) c.391T>A (p.Trp131Arg) n.75+794T>A | |
2 | g.223053068T>C | CA351121122 | KCNE4 | c.238T>C (p.Trp80Arg) c.391T>C (p.Trp131Arg) n.75+794T>C | gnomAD v4 |
2 | g.223053068T>G | CA351121123 | KCNE4 | c.238T>G (p.Trp80Gly) c.391T>G (p.Trp131Gly) n.75+794T>G | |
2 | g.223053068_223053069delinsTG | CA1330889610 | KCNE4 | c.238_239delinsTG (p.Trp80=) c.391_392delinsTG (p.Trp131=) n.75+794_75+795delinsTG | |
2 | g.223053069G>A | CA351121124 | KCNE4 | c.239G>A (p.Trp80Ter) c.392G>A (p.Trp131Ter) n.75+795G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053069G>C | CA2137824 | KCNE4 | c.239G>C (p.Trp80Ser) c.392G>C (p.Trp131Ser) n.75+795G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053069G= | CA1330889611 | KCNE4 | c.239G= (p.Trp80=) c.392G= (p.Trp131=) n.75+795G= | |
2 | g.223053069G>T | CA2137823 | KCNE4 | c.239G>T (p.Trp80Leu) c.392G>T (p.Trp131Leu) n.75+795G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053074dup | CA539837276 | KCNE4 | c.244dup (p.Glu82GlyfsTer?) c.397dup (p.Glu133GlyfsTer?) n.75+800dup | dbSNP gnomAD v2 |
2 | g.223053074del | CA2137822 | KCNE4 | c.244del (p.Glu82ArgfsTer3) c.397del (p.Glu133ArgfsTer3) n.75+800del | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.223053070G>A | CA351121125 | KCNE4 | c.240G>A (p.Trp80Ter) c.393G>A (p.Trp131Ter) n.75+796G>A | |
2 | g.223053070G>C | CA2137825 | KCNE4 | c.240G>C (p.Trp80Cys) c.393G>C (p.Trp131Cys) n.75+796G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053070G= | CA1330889612 | KCNE4 | c.240G= (p.Trp80=) c.393G= (p.Trp131=) n.75+796G= | |
2 | g.223053070G>T | CA66396442 | KCNE4 | c.240G>T (p.Trp80Cys) c.393G>T (p.Trp131Cys) n.75+796G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053071G>A | CA351121126 | KCNE4 | c.241G>A (p.Gly81Arg) c.394G>A (p.Gly132Arg) n.75+797G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.223053071G>C | CA351121127 | KCNE4 | c.241G>C (p.Gly81Arg) c.394G>C (p.Gly132Arg) n.75+797G>C | gnomAD v4 |
2 | g.223053071G= | CA1330889613 | KCNE4 | c.241G= (p.Gly81=) c.394G= (p.Gly132=) n.75+797G= | |
2 | g.223053071G>T | CA66396443 | KCNE4 | c.241G>T (p.Gly81Trp) c.394G>T (p.Gly132Trp) n.75+797G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053072G>A | CA2137826 | KCNE4 | c.242G>A (p.Gly81Glu) c.395G>A (p.Gly132Glu) n.75+798G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053072G>C | CA351121128 | KCNE4 | c.242G>C (p.Gly81Ala) c.395G>C (p.Gly132Ala) n.75+798G>C | dbSNP |
2 | g.223053072G= | CA1330889614 | KCNE4 | c.242G= (p.Gly81=) c.395G= (p.Gly132=) n.75+798G= | |
2 | g.223053072G>T | CA351121129 | KCNE4 | c.242G>T (p.Gly81Val) c.395G>T (p.Gly132Val) n.75+798G>T | |
2 | g.223053073G>A | CA431669414 | KCNE4 | c.243G>A (p.Gly81=) c.396G>A (p.Gly132=) n.75+799G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053073G>C | CA431669415 | KCNE4 | c.243G>C (p.Gly81=) c.396G>C (p.Gly132=) n.75+799G>C | |
2 | g.223053073G= | CA1330889615 | KCNE4 | c.243G= (p.Gly81=) c.396G= (p.Gly132=) n.75+799G= | |
2 | g.223053073G>T | CA431669416 | KCNE4 | c.243G>T (p.Gly81=) c.396G>T (p.Gly132=) n.75+799G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053074G>A | CA2137827 | KCNE4 | c.244G>A (p.Glu82Lys) c.397G>A (p.Glu133Lys) n.75+800G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053074G>C | CA351121131 | KCNE4 | c.244G>C (p.Glu82Gln) c.397G>C (p.Glu133Gln) n.75+800G>C | |
2 | g.223053074G= | CA1330889616 | KCNE4 | c.244G= (p.Glu82=) c.397G= (p.Glu133=) n.75+800G= | |
2 | g.223053074G>T | CA351121130 | KCNE4 | c.244G>T (p.Glu82Ter) c.397G>T (p.Glu133Ter) n.75+800G>T | |
2 | g.223053075A>C | CA351121132 | KCNE4 | c.245A>C (p.Glu82Ala) c.398A>C (p.Glu133Ala) n.75+801A>C | gnomAD v4 |
2 | g.223053075A>G | CA351121133 | KCNE4 | c.245A>G (p.Glu82Gly) c.398A>G (p.Glu133Gly) n.75+801A>G | gnomAD v4 |
2 | g.223053075A>T | CA351121134 | KCNE4 | c.245A>T (p.Glu82Val) c.398A>T (p.Glu133Val) n.75+801A>T | |
2 | g.223053076G>A | CA431669419 | KCNE4 | c.246G>A (p.Glu82=) c.399G>A (p.Glu133=) n.75+802G>A | COSMIC |
2 | g.223053076G>C | CA351121135 | KCNE4 | c.246G>C (p.Glu82Asp) c.399G>C (p.Glu133Asp) n.75+802G>C | |
2 | g.223053076G>T | CA351121136 | KCNE4 | c.246G>T (p.Glu82Asp) c.399G>T (p.Glu133Asp) n.75+802G>T | |
2 | g.223053077G>A | CA351121139 | KCNE4 | c.247G>A (p.Ala83Thr) c.400G>A (p.Ala134Thr) n.75+803G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053077G>C | CA351121138 | KCNE4 | c.247G>C (p.Ala83Pro) c.400G>C (p.Ala134Pro) n.75+803G>C | gnomAD v4 |
2 | g.223053077G= | CA1330889617 | KCNE4 | c.247G= (p.Ala83=) c.400G= (p.Ala134=) n.75+803G= | |
2 | g.223053077G>T | CA351121137 | KCNE4 | c.247G>T (p.Ala83Ser) c.400G>T (p.Ala134Ser) n.75+803G>T | |
2 | g.223053078C>A | CA351121140 | KCNE4 | c.248C>A (p.Ala83Asp) c.401C>A (p.Ala134Asp) n.75+804C>A | |
2 | g.223053078C>G | CA351121141 | KCNE4 | c.248C>G (p.Ala83Gly) c.401C>G (p.Ala134Gly) n.75+804C>G | |
2 | g.223053078C>T | CA351121142 | KCNE4 | c.248C>T (p.Ala83Val) c.401C>T (p.Ala134Val) n.75+804C>T | |
2 | g.223053079C>A | CA431669421 | KCNE4 | c.249C>A (p.Ala83=) c.402C>A (p.Ala134=) n.75+805C>A | |
2 | g.223053079C= | CA1330889618 | KCNE4 | c.249C= (p.Ala83=) c.402C= (p.Ala134=) n.75+805C= | |
2 | g.223053079C>G | CA431669423 | KCNE4 | c.249C>G (p.Ala83=) c.402C>G (p.Ala134=) n.75+805C>G | |
2 | g.223053079C>T | CA431669424 | KCNE4 | c.249C>T (p.Ala83=) c.402C>T (p.Ala134=) n.75+805C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053080A= | CA1330889619 | KCNE4 | c.250A= (p.Met84=) c.403A= (p.Met135=) n.75+806A= | |
2 | g.223053080A>C | CA351121143 | KCNE4 | c.250A>C (p.Met84Leu) c.403A>C (p.Met135Leu) n.75+806A>C | |
2 | g.223053080A>G | CA66396444 | KCNE4 | c.250A>G (p.Met84Val) c.403A>G (p.Met135Val) n.75+806A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053080A>T | CA351121144 | KCNE4 | c.250A>T (p.Met84Leu) c.403A>T (p.Met135Leu) n.75+806A>T | |
2 | g.223053081T>A | CA351121145 | KCNE4 | c.251T>A (p.Met84Lys) c.404T>A (p.Met135Lys) n.75+807T>A | gnomAD v4 |
2 | g.223053081T>C | CA351121147 | KCNE4 | c.251T>C (p.Met84Thr) c.404T>C (p.Met135Thr) n.75+807T>C | |
2 | g.223053081T>G | CA351121146 | KCNE4 | c.251T>G (p.Met84Arg) c.404T>G (p.Met135Arg) n.75+807T>G | |
2 | g.223053082G>A | CA351121148 | KCNE4 | c.252G>A (p.Met84Ile) c.405G>A (p.Met135Ile) n.75+808G>A | |
2 | g.223053082G>C | CA351121149 | KCNE4 | c.252G>C (p.Met84Ile) c.405G>C (p.Met135Ile) n.75+808G>C | |
2 | g.223053082G>T | CA351121150 | KCNE4 | c.252G>T (p.Met84Ile) c.405G>T (p.Met135Ile) n.75+808G>T | |
2 | g.223053083A>C | CA351121151 | KCNE4 | c.253A>C (p.Lys85Gln) c.406A>C (p.Lys136Gln) n.75+809A>C | |
2 | g.223053083A>G | CA351121152 | KCNE4 | c.253A>G (p.Lys85Glu) c.406A>G (p.Lys136Glu) n.75+809A>G | |
2 | g.223053083A>T | CA351121153 | KCNE4 | c.253A>T (p.Lys85Ter) c.406A>T (p.Lys136Ter) n.75+809A>T | |
2 | g.223053084del | CA2838399942 | KCNE4 | c.254del (p.Lys85SerfsTer9) c.407del (p.Lys136SerfsTer9) n.75+810del | |
2 | g.223053084A= | CA1330889620 | KCNE4 | c.254A= (p.Lys85=) c.407A= (p.Lys136=) n.75+810A= | |
2 | g.223053084A>C | CA351121154 | KCNE4 | c.254A>C (p.Lys85Thr) c.407A>C (p.Lys136Thr) n.75+810A>C | |
2 | g.223053084A>G | CA351121155 | KCNE4 | c.254A>G (p.Lys85Arg) c.407A>G (p.Lys136Arg) n.75+810A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053084A>T | CA351121156 | KCNE4 | c.254A>T (p.Lys85Met) c.407A>T (p.Lys136Met) n.75+810A>T | |
2 | g.223053085G>A | CA431669428 | KCNE4 | c.255G>A (p.Lys85=) c.408G>A (p.Lys136=) n.75+811G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053085G>C | CA351121157 | KCNE4 | c.255G>C (p.Lys85Asn) c.408G>C (p.Lys136Asn) n.75+811G>C | |
2 | g.223053085G= | CA1330889621 | KCNE4 | c.255G= (p.Lys85=) c.408G= (p.Lys136=) n.75+811G= | |
2 | g.223053085G>T | CA351121158 | KCNE4 | c.255G>T (p.Lys85Asn) c.408G>T (p.Lys136Asn) n.75+811G>T | |
2 | g.223053086C>A | CA351121161 | KCNE4 | c.256C>A (p.Pro86Thr) c.409C>A (p.Pro137Thr) n.75+812C>A | gnomAD v4 |
2 | g.223053086C>G | CA351121160 | KCNE4 | c.256C>G (p.Pro86Ala) c.409C>G (p.Pro137Ala) n.75+812C>G | |
2 | g.223053086C>T | CA351121159 | KCNE4 | c.256C>T (p.Pro86Ser) c.409C>T (p.Pro137Ser) n.75+812C>T | |
2 | g.223053087C>A | CA351121162 | KCNE4 | c.257C>A (p.Pro86Gln) c.410C>A (p.Pro137Gln) n.75+813C>A | |
2 | g.223053087C>G | CA351121164 | KCNE4 | c.257C>G (p.Pro86Arg) c.410C>G (p.Pro137Arg) n.75+813C>G | |
2 | g.223053087C>T | CA351121163 | KCNE4 | c.257C>T (p.Pro86Leu) c.410C>T (p.Pro137Leu) n.75+813C>T | gnomAD v4 |
2 | g.223053088G>A | CA2137828 | KCNE4 | c.258G>A (p.Pro86=) c.411G>A (p.Pro137=) n.75+814G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053088G>C | CA431669437 | KCNE4 | c.258G>C (p.Pro86=) c.411G>C (p.Pro137=) n.75+814G>C | |
2 | g.223053088G= | CA1330889622 | KCNE4 | c.258G= (p.Pro86=) c.411G= (p.Pro137=) n.75+814G= | |
2 | g.223053088G>T | CA431669438 | KCNE4 | c.258G>T (p.Pro86=) c.411G>T (p.Pro137=) n.75+814G>T | gnomAD v4 |
2 | g.223053089C>A | CA351121165 | KCNE4 | c.259C>A (p.Leu87Met) c.412C>A (p.Leu138Met) n.75+815C>A | gnomAD v4 |
2 | g.223053089C= | CA1330889623 | KCNE4 | c.259C= (p.Leu87=) c.412C= (p.Leu138=) n.75+815C= | |
2 | g.223053089C>G | CA351121166 | KCNE4 | c.259C>G (p.Leu87Val) c.412C>G (p.Leu138Val) n.75+815C>G | |
2 | g.223053089C>T | CA431669439 | KCNE4 | c.259C>T (p.Leu87=) c.412C>T (p.Leu138=) n.75+815C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053090T>A | CA351121167 | KCNE4 | c.260T>A (p.Leu87Gln) c.413T>A (p.Leu138Gln) n.75+816T>A | |
2 | g.223053090T>C | CA351121168 | KCNE4 | c.260T>C (p.Leu87Pro) c.413T>C (p.Leu138Pro) n.75+816T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053090T>G | CA351121169 | KCNE4 | c.260T>G (p.Leu87Arg) c.413T>G (p.Leu138Arg) n.75+816T>G | |
2 | g.223053090T= | CA1330889624 | KCNE4 | c.260T= (p.Leu87=) c.413T= (p.Leu138=) n.75+816T= | |
2 | g.223053091G>A | CA431669444 | KCNE4 | c.261G>A (p.Leu87=) c.414G>A (p.Leu138=) n.75+817G>A | |
2 | g.223053091G>C | CA431669445 | KCNE4 | c.261G>C (p.Leu87=) c.414G>C (p.Leu138=) n.75+817G>C | |
2 | g.223053091G= | CA1330889625 | KCNE4 | c.261G= (p.Leu87=) c.414G= (p.Leu138=) n.75+817G= | |
2 | g.223053091G>T | CA431669446 | KCNE4 | c.261G>T (p.Leu87=) c.414G>T (p.Leu138=) n.75+817G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053092C>A | CA351121170 | KCNE4 | c.262C>A (p.Pro88Thr) c.415C>A (p.Pro139Thr) n.75+818C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053092C= | CA1330889626 | KCNE4 | c.262C= (p.Pro88=) c.415C= (p.Pro139=) n.75+818C= | |
2 | g.223053092C>G | CA351121171 | KCNE4 | c.262C>G (p.Pro88Ala) c.415C>G (p.Pro139Ala) n.75+818C>G | |
2 | g.223053092C>T | CA351121172 | KCNE4 | c.262C>T (p.Pro88Ser) c.415C>T (p.Pro139Ser) n.75+818C>T | gnomAD v4 |
2 | g.223053092_223053093del | CA2839753938 | KCNE4 | c.262_263del (p.Pro88CysfsTer?) c.415_416del (p.Pro139CysfsTer?) n.75+818_75+819del | |
2 | g.223053093C>A | CA351121173 | KCNE4 | c.263C>A (p.Pro88His) c.416C>A (p.Pro139His) n.75+819C>A | |
2 | g.223053093C>G | CA351121174 | KCNE4 | c.263C>G (p.Pro88Arg) c.416C>G (p.Pro139Arg) n.75+819C>G | |
2 | g.223053093C>T | CA351121175 | KCNE4 | c.263C>T (p.Pro88Leu) c.416C>T (p.Pro139Leu) n.75+819C>T | COSMIC |
2 | g.223053094T>A | CA431669448 | KCNE4 | c.264T>A (p.Pro88=) c.417T>A (p.Pro139=) n.75+820T>A | dbSNP gnomAD v4 |
2 | g.223053094T>C | CA2137829 | KCNE4 | c.264T>C (p.Pro88=) c.417T>C (p.Pro139=) n.75+820T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053094T>G | CA2137830 | KCNE4 | c.264T>G (p.Pro88=) c.417T>G (p.Pro139=) n.75+820T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053094T= | CA1330889627 | KCNE4 | c.264T= (p.Pro88=) c.417T= (p.Pro139=) n.75+820T= | |
2 | g.223053094_223053095insAC | CA2838307369 | KCNE4 | c.264_265insAC (p.Val89ThrfsTer6) c.417_418insAC (p.Val140ThrfsTer6) n.75+820_75+821insAC | |
2 | g.223053094_223053095insCC | CA1042772618 | KCNE4 | c.264_265insCC (p.Val89ProfsTer6) c.417_418insCC (p.Val140ProfsTer6) n.75+820_75+821insCC | gnomAD v3 gnomAD v4 |
2 | g.223053095G>A | CA351121176 | KCNE4 | c.265G>A (p.Val89Met) c.418G>A (p.Val140Met) n.75+821G>A | gnomAD v4 |
2 | g.223053095G>C | CA351121178 | KCNE4 | c.265G>C (p.Val89Leu) c.418G>C (p.Val140Leu) n.75+821G>C | gnomAD v4 |
2 | g.223053095G>T | CA351121177 | KCNE4 | c.265G>T (p.Val89Leu) c.418G>T (p.Val140Leu) n.75+821G>T | |
2 | g.223053096T>A | CA351121179 | KCNE4 | c.266T>A (p.Val89Glu) c.419T>A (p.Val140Glu) n.75+822T>A | |
2 | g.223053096T>C | CA351121180 | KCNE4 | c.266T>C (p.Val89Ala) c.419T>C (p.Val140Ala) n.75+822T>C | dbSNP |
2 | g.223053096T>G | CA351121181 | KCNE4 | c.266T>G (p.Val89Gly) c.419T>G (p.Val140Gly) n.75+822T>G | dbSNP gnomAD v4 |
2 | g.223053096T= | CA1330889628 | KCNE4 | c.266T= (p.Val89=) c.419T= (p.Val140=) n.75+822T= | |
2 | g.223053097G>A | CA2137831 | KCNE4 | c.267G>A (p.Val89=) c.420G>A (p.Val140=) n.75+823G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053097G>C | CA431669451 | KCNE4 | c.267G>C (p.Val89=) c.420G>C (p.Val140=) n.75+823G>C | |
2 | g.223053097G= | CA1330889629 | KCNE4 | c.267G= (p.Val89=) c.420G= (p.Val140=) n.75+823G= | |
2 | g.223053097G>T | CA431669450 | KCNE4 | c.267G>T (p.Val89=) c.420G>T (p.Val140=) n.75+823G>T | |
2 | g.223053098G>A | CA351121182 | KCNE4 | c.268G>A (p.Val90Met) c.421G>A (p.Val141Met) n.75+824G>A | |
2 | g.223053098G>C | CA351121183 | KCNE4 | c.268G>C (p.Val90Leu) c.421G>C (p.Val141Leu) n.75+824G>C | dbSNP gnomAD v4 |
2 | g.223053098G= | CA1330889630 | KCNE4 | c.268G= (p.Val90=) c.421G= (p.Val141=) n.75+824G= | |
2 | g.223053098G>T | CA351121184 | KCNE4 | c.268G>T (p.Val90Leu) c.421G>T (p.Val141Leu) n.75+824G>T | gnomAD v4 |
2 | g.223053099T>A | CA351121185 | KCNE4 | c.269T>A (p.Val90Glu) c.422T>A (p.Val141Glu) n.75+825T>A | |
2 | g.223053099T>C | CA351121186 | KCNE4 | c.269T>C (p.Val90Ala) c.422T>C (p.Val141Ala) n.75+825T>C | |
2 | g.223053099T>G | CA351121187 | KCNE4 | c.269T>G (p.Val90Gly) c.422T>G (p.Val141Gly) n.75+825T>G | dbSNP |
2 | g.223053099T= | CA1330889631 | KCNE4 | c.269T= (p.Val90=) c.422T= (p.Val141=) n.75+825T= | |
2 | g.223053100G>A | CA66396445 | KCNE4 | c.270G>A (p.Val90=) c.423G>A (p.Val141=) n.75+826G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053100G>C | CA431669455 | KCNE4 | c.270G>C (p.Val90=) c.423G>C (p.Val141=) n.75+826G>C | |
2 | g.223053100G= | CA1330889632 | KCNE4 | c.270G= (p.Val90=) c.423G= (p.Val141=) n.75+826G= | |
2 | g.223053100G>T | CA431669454 | KCNE4 | c.270G>T (p.Val90=) c.423G>T (p.Val141=) n.75+826G>T | |
2 | g.223053101T>A | CA351121190 | KCNE4 | c.271T>A (p.Ser91Thr) c.424T>A (p.Ser142Thr) n.75+827T>A | |
2 | g.223053101T>C | CA351121189 | KCNE4 | c.271T>C (p.Ser91Pro) c.424T>C (p.Ser142Pro) n.75+827T>C | |
2 | g.223053101T>G | CA351121188 | KCNE4 | c.271T>G (p.Ser91Ala) c.424T>G (p.Ser142Ala) n.75+827T>G | |
2 | g.223053102C>A | CA351121191 | KCNE4 | c.272C>A (p.Ser91Ter) c.425C>A (p.Ser142Ter) n.75+828C>A | dbSNP |
2 | g.223053102C= | CA1330889633 | KCNE4 | c.272C= (p.Ser91=) c.425C= (p.Ser142=) n.75+828C= | |
2 | g.223053102C>G | CA351121192 | KCNE4 | c.272C>G (p.Ser91Trp) c.425C>G (p.Ser142Trp) n.75+828C>G | |
2 | g.223053102C>T | CA351121193 | KCNE4 | c.272C>T (p.Ser91Leu) c.425C>T (p.Ser142Leu) n.75+828C>T | |
2 | g.223053103G>A | CA431669457 | KCNE4 | c.273G>A (p.Ser91=) c.426G>A (p.Ser142=) n.75+829G>A | dbSNP gnomAD v4 |
2 | g.223053103G>C | CA2137832 | KCNE4 | c.273G>C (p.Ser91=) c.426G>C (p.Ser142=) n.75+829G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053103G= | CA1330889634 | KCNE4 | c.273G= (p.Ser91=) c.426G= (p.Ser142=) n.75+829G= | |
2 | g.223053103G>T | CA431669458 | KCNE4 | c.273G>T (p.Ser91=) c.426G>T (p.Ser142=) n.75+829G>T | gnomAD v4 |
2 | g.223053105del | CA2838307372 | KCNE4 | c.275del (p.Gly92AlafsTer2) c.428del (p.Gly143AlafsTer2) n.75+831del | |
2 | g.223053104G>A | CA351121194 | KCNE4 | c.274G>A (p.Gly92Ser) c.427G>A (p.Gly143Ser) n.75+830G>A | dbSNP gnomAD v4 |
2 | g.223053104G>C | CA351121195 | KCNE4 | c.274G>C (p.Gly92Arg) c.427G>C (p.Gly143Arg) n.75+830G>C | |
2 | g.223053104G= | CA1330889635 | KCNE4 | c.274G= (p.Gly92=) c.427G= (p.Gly143=) n.75+830G= | |
2 | g.223053104G>T | CA351121196 | KCNE4 | c.274G>T (p.Gly92Cys) c.427G>T (p.Gly143Cys) n.75+830G>T | |
2 | g.223053105G>A | CA351121197 | KCNE4 | c.275G>A (p.Gly92Asp) c.428G>A (p.Gly143Asp) n.75+831G>A | dbSNP gnomAD v4 |
2 | g.223053105G>C | CA351121198 | KCNE4 | c.275G>C (p.Gly92Ala) c.428G>C (p.Gly143Ala) n.75+831G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053105G= | CA1330889636 | KCNE4 | c.275G= (p.Gly92=) c.428G= (p.Gly143=) n.75+831G= | |
2 | g.223053105G>T | CA351121199 | KCNE4 | c.275G>T (p.Gly92Val) c.428G>T (p.Gly143Val) n.75+831G>T | |
2 | g.223053106C>A | CA431669460 | KCNE4 | c.276C>A (p.Gly92=) c.429C>A (p.Gly143=) n.75+832C>A | |
2 | g.223053106C>G | CA431669461 | KCNE4 | c.276C>G (p.Gly92=) c.429C>G (p.Gly143=) n.75+832C>G | |
2 | g.223053106C>T | CA431669462 | KCNE4 | c.276C>T (p.Gly92=) c.429C>T (p.Gly143=) n.75+832C>T | gnomAD v4 |
2 | g.223053107C>A | CA351121200 | KCNE4 | c.277C>A (p.Leu93Met) c.430C>A (p.Leu144Met) n.75+833C>A | |
2 | g.223053107C>G | CA351121201 | KCNE4 | c.277C>G (p.Leu93Val) c.430C>G (p.Leu144Val) n.75+833C>G | |
2 | g.223053107C>T | CA431669463 | KCNE4 | c.277C>T (p.Leu93=) c.430C>T (p.Leu144=) n.75+833C>T | |
2 | g.223053108T>A | CA351121203 | KCNE4 | c.278T>A (p.Leu93Gln) c.431T>A (p.Leu144Gln) n.75+834T>A | |
2 | g.223053108T>C | CA351121204 | KCNE4 | c.278T>C (p.Leu93Pro) c.431T>C (p.Leu144Pro) n.75+834T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053108T>G | CA351121202 | KCNE4 | c.278T>G (p.Leu93Arg) c.431T>G (p.Leu144Arg) n.75+834T>G | gnomAD v4 |
2 | g.223053108T= | CA1330889637 | KCNE4 | c.278T= (p.Leu93=) c.431T= (p.Leu144=) n.75+834T= | |
2 | g.223053109G>A | CA431669464 | KCNE4 | c.279G>A (p.Leu93=) c.432G>A (p.Leu144=) n.75+835G>A | gnomAD v4 |
2 | g.223053109G>C | CA431669465 | KCNE4 | c.279G>C (p.Leu93=) c.432G>C (p.Leu144=) n.75+835G>C | |
2 | g.223053109G>T | CA431669466 | KCNE4 | c.279G>T (p.Leu93=) c.432G>T (p.Leu144=) n.75+835G>T | |
2 | g.223053110A>C | CA431669467 | KCNE4 | c.280A>C (p.Arg94=) c.433A>C (p.Arg145=) n.75+836A>C | |
2 | g.223053110A>G | CA351121205 | KCNE4 | c.280A>G (p.Arg94Gly) c.433A>G (p.Arg145Gly) n.75+836A>G | |
2 | g.223053110A>T | CA351121206 | KCNE4 | c.280A>T (p.Arg94Trp) c.433A>T (p.Arg145Trp) n.75+836A>T | gnomAD v4 |
2 | g.223053114_223053123del | CA2832662101 | KCNE4 | c.284_293del (p.Ser95CysfsTer3) c.437_446del (p.Ser146CysfsTer3) n.75+840_75+849del | |
2 | g.223053111G>A | CA351121207 | KCNE4 | c.281G>A (p.Arg94Lys) c.434G>A (p.Arg145Lys) n.75+837G>A | |
2 | g.223053111G>C | CA351121208 | KCNE4 | c.281G>C (p.Arg94Thr) c.434G>C (p.Arg145Thr) n.75+837G>C | |
2 | g.223053111G>T | CA351121209 | KCNE4 | c.281G>T (p.Arg94Met) c.434G>T (p.Arg145Met) n.75+837G>T | |
2 | g.223053112G>A | CA431669469 | KCNE4 | c.282G>A (p.Arg94=) c.435G>A (p.Arg145=) n.75+838G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053112G>C | CA351121211 | KCNE4 | c.282G>C (p.Arg94Ser) c.435G>C (p.Arg145Ser) n.75+838G>C | |
2 | g.223053112G= | CA1330889638 | KCNE4 | c.282G= (p.Arg94=) c.435G= (p.Arg145=) n.75+838G= | |
2 | g.223053112G>T | CA351121210 | KCNE4 | c.282G>T (p.Arg94Ser) c.435G>T (p.Arg145Ser) n.75+838G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053113T>A | CA351121212 | KCNE4 | c.283T>A (p.Ser95Thr) c.436T>A (p.Ser146Thr) n.75+839T>A | |
2 | g.223053113T>C | CA351121213 | KCNE4 | c.283T>C (p.Ser95Pro) c.436T>C (p.Ser146Pro) n.75+839T>C | |
2 | g.223053113T>G | CA351121214 | KCNE4 | c.283T>G (p.Ser95Ala) c.436T>G (p.Ser146Ala) n.75+839T>G | |
2 | g.223053114del | CA2842461042 | KCNE4 | c.284del (p.Ser95TrpfsTer6) c.437del (p.Ser146TrpfsTer6) n.75+840del | |
2 | g.223053114C>A | CA351121215 | KCNE4 | c.284C>A (p.Ser95Ter) c.437C>A (p.Ser146Ter) n.75+840C>A | gnomAD v4 |
2 | g.223053114C= | CA1330889639 | KCNE4 | c.284C= (p.Ser95=) c.437C= (p.Ser146=) n.75+840C= | |
2 | g.223053114C>G | CA351121216 | KCNE4 | c.284C>G (p.Ser95Trp) c.437C>G (p.Ser146Trp) n.75+840C>G | |
2 | g.223053114C>T | CA66396446 | KCNE4 | c.284C>T (p.Ser95Leu) c.437C>T (p.Ser146Leu) n.75+840C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.223053115G>A | CA431669471 | KCNE4 | c.285G>A (p.Ser95=) c.438G>A (p.Ser146=) n.75+841G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053115G>C | CA431669472 | KCNE4 | c.285G>C (p.Ser95=) c.438G>C (p.Ser146=) n.75+841G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053115G= | CA1330889640 | KCNE4 | c.285G= (p.Ser95=) c.438G= (p.Ser146=) n.75+841G= | |
2 | g.223053115G>T | CA431669473 | KCNE4 | c.285G>T (p.Ser95=) c.438G>T (p.Ser146=) n.75+841G>T | gnomAD v4 |
2 | g.223053116G>A | CA351121219 | KCNE4 | c.286G>A (p.Val96Met) c.439G>A (p.Val147Met) n.75+842G>A | |
2 | g.223053116G>C | CA351121218 | KCNE4 | c.286G>C (p.Val96Leu) c.439G>C (p.Val147Leu) n.75+842G>C | |
2 | g.223053116G>T | CA351121217 | KCNE4 | c.286G>T (p.Val96Leu) c.439G>T (p.Val147Leu) n.75+842G>T | |
2 | g.223053117T>A | CA351121220 | KCNE4 | c.287T>A (p.Val96Glu) c.440T>A (p.Val147Glu) n.75+843T>A | |
2 | g.223053117T>C | CA2137833 | KCNE4 | c.287T>C (p.Val96Ala) c.440T>C (p.Val147Ala) n.75+843T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053117T>G | CA351121221 | KCNE4 | c.287T>G (p.Val96Gly) c.440T>G (p.Val147Gly) n.75+843T>G | |
2 | g.223053117T= | CA1330889641 | KCNE4 | c.287T= (p.Val96=) c.440T= (p.Val147=) n.75+843T= | |
2 | g.223053118G>A | CA431669475 | KCNE4 | c.288G>A (p.Val96=) c.441G>A (p.Val147=) n.75+844G>A | |
2 | g.223053118G>C | CA431669476 | KCNE4 | c.288G>C (p.Val96=) c.441G>C (p.Val147=) n.75+844G>C | |
2 | g.223053118G>T | CA431669477 | KCNE4 | c.288G>T (p.Val96=) c.441G>T (p.Val147=) n.75+844G>T | |
2 | g.223053119C>A | CA351121222 | KCNE4 | c.289C>A (p.Gln97Lys) c.442C>A (p.Gln148Lys) n.75+845C>A | |
2 | g.223053119C= | CA1330889642 | KCNE4 | c.289C= (p.Gln97=) c.442C= (p.Gln148=) n.75+845C= | |
2 | g.223053119C>G | CA351121223 | KCNE4 | c.289C>G (p.Gln97Glu) c.442C>G (p.Gln148Glu) n.75+845C>G | |
2 | g.223053119C>T | CA351121224 | KCNE4 | c.289C>T (p.Gln97Ter) c.442C>T (p.Gln148Ter) n.75+845C>T | dbSNP gnomAD v2 |
2 | g.223053120A= | CA1330889643 | KCNE4 | c.290A= (p.Gln97=) c.443A= (p.Gln148=) n.75+846A= | |
2 | g.223053120A>C | CA2137834 | KCNE4 | c.290A>C (p.Gln97Pro) c.443A>C (p.Gln148Pro) n.75+846A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053120A>G | CA351121225 | KCNE4 | c.290A>G (p.Gln97Arg) c.443A>G (p.Gln148Arg) n.75+846A>G | |
2 | g.223053120A>T | CA351121226 | KCNE4 | c.290A>T (p.Gln97Leu) c.443A>T (p.Gln148Leu) n.75+846A>T | |
2 | g.223053121G>A | CA431669479 | KCNE4 | c.291G>A (p.Gln97=) c.444G>A (p.Gln148=) n.75+847G>A | |
2 | g.223053121G>C | CA351121227 | KCNE4 | c.291G>C (p.Gln97His) c.444G>C (p.Gln148His) n.75+847G>C | |
2 | g.223053121G>T | CA351121228 | KCNE4 | c.291G>T (p.Gln97His) c.444G>T (p.Gln148His) n.75+847G>T | |
2 | g.223053122G>A | CA351121229 | KCNE4 | c.292G>A (p.Val98Met) c.445G>A (p.Val149Met) n.75+848G>A | |
2 | g.223053122G>C | CA351121231 | KCNE4 | c.292G>C (p.Val98Leu) c.445G>C (p.Val149Leu) n.75+848G>C | |
2 | g.223053122G>T | CA351121230 | KCNE4 | c.292G>T (p.Val98Leu) c.445G>T (p.Val149Leu) n.75+848G>T | |
2 | g.223053123T>A | CA351121232 | KCNE4 | c.293T>A (p.Val98Glu) c.446T>A (p.Val149Glu) n.75+849T>A | |
2 | g.223053123T>C | CA351121233 | KCNE4 | c.293T>C (p.Val98Ala) c.446T>C (p.Val149Ala) n.75+849T>C | |
2 | g.223053123T>G | CA351121234 | KCNE4 | c.293T>G (p.Val98Gly) c.446T>G (p.Val149Gly) n.75+849T>G | |
2 | g.223053124G>A | CA66396447 | KCNE4 | c.294G>A (p.Val98=) c.447G>A (p.Val149=) n.75+850G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053124G>C | CA431669481 | KCNE4 | c.294G>C (p.Val98=) c.447G>C (p.Val149=) n.75+850G>C | |
2 | g.223053124G= | CA1330889644 | KCNE4 | c.294G= (p.Val98=) c.447G= (p.Val149=) n.75+850G= | |
2 | g.223053124G>T | CA431669483 | KCNE4 | c.294G>T (p.Val98=) c.447G>T (p.Val149=) n.75+850G>T | |
2 | g.223053125C>A | CA351121235 | KCNE4 | c.295C>A (p.Pro99Thr) c.448C>A (p.Pro150Thr) n.75+851C>A | |
2 | g.223053125C>G | CA351121237 | KCNE4 | c.295C>G (p.Pro99Ala) c.448C>G (p.Pro150Ala) n.75+851C>G | |
2 | g.223053125C>T | CA351121236 | KCNE4 | c.295C>T (p.Pro99Ser) c.448C>T (p.Pro150Ser) n.75+851C>T | gnomAD v4 |
2 | g.223053126C>A | CA351121238 | KCNE4 | c.296C>A (p.Pro99His) c.449C>A (p.Pro150His) n.75+852C>A | |
2 | g.223053126C>G | CA351121239 | KCNE4 | c.296C>G (p.Pro99Arg) c.449C>G (p.Pro150Arg) n.75+852C>G | |
2 | g.223053126C>T | CA351121240 | KCNE4 | c.296C>T (p.Pro99Leu) c.449C>T (p.Pro150Leu) n.75+852C>T | |
2 | g.223053127C>A | CA431669484 | KCNE4 | c.297C>A (p.Pro99=) c.450C>A (p.Pro150=) n.75+853C>A | |
2 | g.223053127C= | CA1330889645 | KCNE4 | c.297C= (p.Pro99=) c.450C= (p.Pro150=) n.75+853C= | |
2 | g.223053127C>G | CA431669486 | KCNE4 | c.297C>G (p.Pro99=) c.450C>G (p.Pro150=) n.75+853C>G | |
2 | g.223053127C>T | CA66396448 | KCNE4 | c.297C>T (p.Pro99=) c.450C>T (p.Pro150=) n.75+853C>T | dbSNP gnomAD v4 |
2 | g.223053128C>A | CA351121241 | KCNE4 | c.298C>A (p.Leu100Met) c.451C>A (p.Leu151Met) n.75+854C>A | dbSNP gnomAD v4 |
2 | g.223053128C= | CA1330889646 | KCNE4 | c.298C= (p.Leu100=) c.451C= (p.Leu151=) n.75+854C= | |
2 | g.223053128C>G | CA351121242 | KCNE4 | c.298C>G (p.Leu100Val) c.451C>G (p.Leu151Val) n.75+854C>G | gnomAD v4 |
2 | g.223053128C>T | CA431669487 | KCNE4 | c.298C>T (p.Leu100=) c.451C>T (p.Leu151=) n.75+854C>T | |
2 | g.223053129T>A | CA351121243 | KCNE4 | c.299T>A (p.Leu100Gln) c.452T>A (p.Leu151Gln) n.75+855T>A | |
2 | g.223053129T>C | CA351121244 | KCNE4 | c.299T>C (p.Leu100Pro) c.452T>C (p.Leu151Pro) n.75+855T>C | dbSNP |
2 | g.223053129T>G | CA351121245 | KCNE4 | c.299T>G (p.Leu100Arg) c.452T>G (p.Leu151Arg) n.75+855T>G | |
2 | g.223053129T= | CA1330889647 | KCNE4 | c.299T= (p.Leu100=) c.452T= (p.Leu151=) n.75+855T= | |
2 | g.223053130G>A | CA431669488 | KCNE4 | c.300G>A (p.Leu100=) c.453G>A (p.Leu151=) n.75+856G>A | |
2 | g.223053130G>C | CA431669491 | KCNE4 | c.300G>C (p.Leu100=) c.453G>C (p.Leu151=) n.75+856G>C | |
2 | g.223053130G>T | CA431669492 | KCNE4 | c.300G>T (p.Leu100=) c.453G>T (p.Leu151=) n.75+856G>T | |
2 | g.223053131A>C | CA351121246 | KCNE4 | c.301A>C (p.Met101Leu) c.454A>C (p.Met152Leu) n.75+857A>C | |
2 | g.223053131A>G | CA351121247 | KCNE4 | c.301A>G (p.Met101Val) c.454A>G (p.Met152Val) n.75+857A>G | |
2 | g.223053131A>T | CA351121248 | KCNE4 | c.301A>T (p.Met101Leu) c.454A>T (p.Met152Leu) n.75+857A>T | |
2 | g.223053132T>A | CA351121249 | KCNE4 | c.302T>A (p.Met101Lys) c.455T>A (p.Met152Lys) n.75+858T>A | |
2 | g.223053132T>C | CA2137835 | KCNE4 | c.302T>C (p.Met101Thr) c.455T>C (p.Met152Thr) n.75+858T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053132T>G | CA2137836 | KCNE4 | c.302T>G (p.Met101Arg) c.455T>G (p.Met152Arg) n.75+858T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053132T= | CA1330889648 | KCNE4 | c.302T= (p.Met101=) c.455T= (p.Met152=) n.75+858T= | |
2 | g.223053133G>A | CA351121250 | KCNE4 | c.303G>A (p.Met101Ile) c.456G>A (p.Met152Ile) n.75+859G>A | |
2 | g.223053133G>C | CA351121251 | KCNE4 | c.303G>C (p.Met101Ile) c.456G>C (p.Met152Ile) n.75+859G>C | |
2 | g.223053133G>T | CA351121252 | KCNE4 | c.303G>T (p.Met101Ile) c.456G>T (p.Met152Ile) n.75+859G>T | |
2 | g.223053134C>A | CA351121253 | KCNE4 | c.304C>A (p.Leu102Met) c.457C>A (p.Leu153Met) n.75+860C>A | |
2 | g.223053134C= | CA1330889649 | KCNE4 | c.304C= (p.Leu102=) c.457C= (p.Leu153=) n.75+860C= | |
2 | g.223053134C>G | CA351121254 | KCNE4 | c.304C>G (p.Leu102Val) c.457C>G (p.Leu153Val) n.75+860C>G | |
2 | g.223053134C>T | CA431669496 | KCNE4 | c.304C>T (p.Leu102=) c.457C>T (p.Leu153=) n.75+860C>T | dbSNP gnomAD v4 |
2 | g.223053135T>A | CA351121255 | KCNE4 | c.305T>A (p.Leu102Gln) c.458T>A (p.Leu153Gln) n.75+861T>A | |
2 | g.223053135T>C | CA351121256 | KCNE4 | c.305T>C (p.Leu102Pro) c.458T>C (p.Leu153Pro) n.75+861T>C | |
2 | g.223053135T>G | CA351121257 | KCNE4 | c.305T>G (p.Leu102Arg) c.458T>G (p.Leu153Arg) n.75+861T>G | |
2 | g.223053136G>A | CA431669497 | KCNE4 | c.306G>A (p.Leu102=) c.459G>A (p.Leu153=) n.75+862G>A | |
2 | g.223053136G>C | CA431669498 | KCNE4 | c.306G>C (p.Leu102=) c.459G>C (p.Leu153=) n.75+862G>C | |
2 | g.223053136G>T | CA431669499 | KCNE4 | c.306G>T (p.Leu102=) c.459G>T (p.Leu153=) n.75+862G>T | |
2 | g.223053137A>C | CA351121258 | KCNE4 | c.307A>C (p.Asn103His) c.460A>C (p.Asn154His) n.75+863A>C | |
2 | g.223053137A>G | CA351121259 | KCNE4 | c.307A>G (p.Asn103Asp) c.460A>G (p.Asn154Asp) n.75+863A>G | |
2 | g.223053137A>T | CA351121260 | KCNE4 | c.307A>T (p.Asn103Tyr) c.460A>T (p.Asn154Tyr) n.75+863A>T | |
2 | g.223053138A>C | CA351121263 | KCNE4 | c.308A>C (p.Asn103Thr) c.461A>C (p.Asn154Thr) n.75+864A>C | |
2 | g.223053138A>G | CA351121262 | KCNE4 | c.308A>G (p.Asn103Ser) c.461A>G (p.Asn154Ser) n.75+864A>G | |
2 | g.223053138A>T | CA351121261 | KCNE4 | c.308A>T (p.Asn103Ile) c.461A>T (p.Asn154Ile) n.75+864A>T | |
2 | g.223053139C>A | CA351121264 | KCNE4 | c.309C>A (p.Asn103Lys) c.462C>A (p.Asn154Lys) n.75+865C>A | |
2 | g.223053139C>G | CA351121265 | KCNE4 | c.309C>G (p.Asn103Lys) c.462C>G (p.Asn154Lys) n.75+865C>G | |
2 | g.223053139C>T | CA431669501 | KCNE4 | c.309C>T (p.Asn103=) c.462C>T (p.Asn154=) n.75+865C>T | |
2 | g.223053140A>C | CA351121266 | KCNE4 | c.310A>C (p.Met104Leu) c.463A>C (p.Met155Leu) n.75+866A>C | |
2 | g.223053140A>G | CA351121267 | KCNE4 | c.310A>G (p.Met104Val) c.463A>G (p.Met155Val) n.75+866A>G | |
2 | g.223053140A>T | CA351121268 | KCNE4 | c.310A>T (p.Met104Leu) c.463A>T (p.Met155Leu) n.75+866A>T | |
2 | g.223053141T>A | CA351121269 | KCNE4 | c.311T>A (p.Met104Lys) c.464T>A (p.Met155Lys) n.75+867T>A | |
2 | g.223053141T>C | CA351121270 | KCNE4 | c.311T>C (p.Met104Thr) c.464T>C (p.Met155Thr) n.75+867T>C | COSMIC |
2 | g.223053141T>G | CA351121271 | KCNE4 | c.311T>G (p.Met104Arg) c.464T>G (p.Met155Arg) n.75+867T>G | |
2 | g.223053142G>A | CA351121272 | KCNE4 | c.312G>A (p.Met104Ile) c.465G>A (p.Met155Ile) n.75+868G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053142G>C | CA351121273 | KCNE4 | c.312G>C (p.Met104Ile) c.465G>C (p.Met155Ile) n.75+868G>C | |
2 | g.223053142G= | CA1330889650 | KCNE4 | c.312G= (p.Met104=) c.465G= (p.Met155=) n.75+868G= | |
2 | g.223053142G>T | CA351121274 | KCNE4 | c.312G>T (p.Met104Ile) c.465G>T (p.Met155Ile) n.75+868G>T | dbSNP gnomAD v4 |
2 | g.223053143C>A | CA351121275 | KCNE4 | c.313C>A (p.Leu105Met) c.466C>A (p.Leu156Met) n.75+869C>A | |
2 | g.223053143C>G | CA351121276 | KCNE4 | c.313C>G (p.Leu105Val) c.466C>G (p.Leu156Val) n.75+869C>G | |
2 | g.223053143C>T | CA431669503 | KCNE4 | c.313C>T (p.Leu105=) c.466C>T (p.Leu156=) n.75+869C>T | gnomAD v4 |
2 | g.223053144T>A | CA351121279 | KCNE4 | c.314T>A (p.Leu105Gln) c.467T>A (p.Leu156Gln) n.75+870T>A | |
2 | g.223053144T>C | CA351121278 | KCNE4 | c.314T>C (p.Leu105Pro) c.467T>C (p.Leu156Pro) n.75+870T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053144T>G | CA351121277 | KCNE4 | c.314T>G (p.Leu105Arg) c.467T>G (p.Leu156Arg) n.75+870T>G | |
2 | g.223053144T= | CA1330889651 | KCNE4 | c.314T= (p.Leu105=) c.467T= (p.Leu156=) n.75+870T= | |
2 | g.223053145G>A | CA431669505 | KCNE4 | c.315G>A (p.Leu105=) c.468G>A (p.Leu156=) n.75+871G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053145G>C | CA431669506 | KCNE4 | c.315G>C (p.Leu105=) c.468G>C (p.Leu156=) n.75+871G>C | |
2 | g.223053145G= | CA1330889652 | KCNE4 | c.315G= (p.Leu105=) c.468G= (p.Leu156=) n.75+871G= | |
2 | g.223053145G>T | CA431669508 | KCNE4 | c.315G>T (p.Leu105=) c.468G>T (p.Leu156=) n.75+871G>T | |
2 | g.223053146C>A | CA351121281 | KCNE4 | c.316C>A (p.Gln106Lys) c.469C>A (p.Gln157Lys) n.75+872C>A | |
2 | g.223053146C>G | CA351121280 | KCNE4 | c.316C>G (p.Gln106Glu) c.469C>G (p.Gln157Glu) n.75+872C>G | |
2 | g.223053146C>T | CA351121282 | KCNE4 | c.316C>T (p.Gln106Ter) c.469C>T (p.Gln157Ter) n.75+872C>T | |
2 | g.223053147A>C | CA351121283 | KCNE4 | c.317A>C (p.Gln106Pro) c.470A>C (p.Gln157Pro) n.75+873A>C | |
2 | g.223053147A>G | CA351121284 | KCNE4 | c.317A>G (p.Gln106Arg) c.470A>G (p.Gln157Arg) n.75+873A>G | |
2 | g.223053147A>T | CA351121285 | KCNE4 | c.317A>T (p.Gln106Leu) c.470A>T (p.Gln157Leu) n.75+873A>T | |
2 | g.223053148G>A | CA431669509 | KCNE4 | c.318G>A (p.Gln106=) c.471G>A (p.Gln157=) n.75+874G>A | |
2 | g.223053148G>C | CA351121286 | KCNE4 | c.318G>C (p.Gln106His) c.471G>C (p.Gln157His) n.75+874G>C | |
2 | g.223053148G>T | CA351121287 | KCNE4 | c.318G>T (p.Gln106His) c.471G>T (p.Gln157His) n.75+874G>T | |
2 | g.223053149G>A | CA351121288 | KCNE4 | c.319G>A (p.Glu107Lys) c.472G>A (p.Glu158Lys) n.75+875G>A | COSMIC |
2 | g.223053149G>C | CA351121289 | KCNE4 | c.319G>C (p.Glu107Gln) c.472G>C (p.Glu158Gln) n.75+875G>C | gnomAD v4 |
2 | g.223053149G>T | CA351121290 | KCNE4 | c.319G>T (p.Glu107Ter) c.472G>T (p.Glu158Ter) n.75+875G>T | |
2 | g.223053150A= | CA1330889653 | KCNE4 | c.320A= (p.Glu107=) c.473A= (p.Glu158=) n.75+876A= | |
2 | g.223053150A>C | CA351121291 | KCNE4 | c.320A>C (p.Glu107Ala) c.473A>C (p.Glu158Ala) n.75+876A>C | |
2 | g.223053150A>G | CA2137837 | KCNE4 | c.320A>G (p.Glu107Gly) c.473A>G (p.Glu158Gly) n.75+876A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053150A>T | CA351121292 | KCNE4 | c.320A>T (p.Glu107Val) c.473A>T (p.Glu158Val) n.75+876A>T | |
2 | g.223053151G>A | CA431669511 | KCNE4 | c.321G>A (p.Glu107=) c.474G>A (p.Glu158=) n.75+877G>A | dbSNP |
2 | g.223053151G>C | CA351121293 | KCNE4 | c.321G>C (p.Glu107Asp) c.474G>C (p.Glu158Asp) n.75+877G>C | gnomAD v4 |
2 | g.223053151G= | CA1330889654 | KCNE4 | c.321G= (p.Glu107=) c.474G= (p.Glu158=) n.75+877G= | |
2 | g.223053151G>T | CA351121294 | KCNE4 | c.321G>T (p.Glu107Asp) c.474G>T (p.Glu158Asp) n.75+877G>T | |
2 | g.223053152A>C | CA351121297 | KCNE4 | c.322A>C (p.Ser108Arg) c.475A>C (p.Ser159Arg) n.75+878A>C | |
2 | g.223053152A>G | CA351121295 | KCNE4 | c.322A>G (p.Ser108Gly) c.475A>G (p.Ser159Gly) n.75+878A>G | |
2 | g.223053152A>T | CA351121296 | KCNE4 | c.322A>T (p.Ser108Cys) c.475A>T (p.Ser159Cys) n.75+878A>T | |
2 | g.223053153G>A | CA351121298 | KCNE4 | c.323G>A (p.Ser108Asn) c.476G>A (p.Ser159Asn) n.75+879G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053153G>C | CA351121299 | KCNE4 | c.323G>C (p.Ser108Thr) c.476G>C (p.Ser159Thr) n.75+879G>C | |
2 | g.223053153G= | CA1330889655 | KCNE4 | c.323G= (p.Ser108=) c.476G= (p.Ser159=) n.75+879G= | |
2 | g.223053153G>T | CA351121300 | KCNE4 | c.323G>T (p.Ser108Ile) c.476G>T (p.Ser159Ile) n.75+879G>T | |
2 | g.223053154C>A | CA351121301 | KCNE4 | c.324C>A (p.Ser108Arg) c.477C>A (p.Ser159Arg) n.75+880C>A | gnomAD v4 |
2 | g.223053154C= | CA1330889656 | KCNE4 | c.324C= (p.Ser108=) c.477C= (p.Ser159=) n.75+880C= | |
2 | g.223053154C>G | CA351121302 | KCNE4 | c.324C>G (p.Ser108Arg) c.477C>G (p.Ser159Arg) n.75+880C>G | |
2 | g.223053154C>T | CA431669513 | KCNE4 | c.324C>T (p.Ser108=) c.477C>T (p.Ser159=) n.75+880C>T | dbSNP gnomAD v4 |
2 | g.223053155G>A | CA351121303 | KCNE4 | c.325G>A (p.Val109Met) c.478G>A (p.Val160Met) n.75+881G>A | dbSNP gnomAD v4 |
2 | g.223053155G>C | CA351121304 | KCNE4 | c.325G>C (p.Val109Leu) c.478G>C (p.Val160Leu) n.75+881G>C | |
2 | g.223053155G= | CA1330889657 | KCNE4 | c.325G= (p.Val109=) c.478G= (p.Val160=) n.75+881G= | |
2 | g.223053155G>T | CA351121305 | KCNE4 | c.325G>T (p.Val109Leu) c.478G>T (p.Val160Leu) n.75+881G>T | gnomAD v4 |
2 | g.223053156T>A | CA351121306 | KCNE4 | c.326T>A (p.Val109Glu) c.479T>A (p.Val160Glu) n.75+882T>A | |
2 | g.223053156T>C | CA351121307 | KCNE4 | c.326T>C (p.Val109Ala) c.479T>C (p.Val160Ala) n.75+882T>C | gnomAD v4 |
2 | g.223053156T>G | CA351121308 | KCNE4 | c.326T>G (p.Val109Gly) c.479T>G (p.Val160Gly) n.75+882T>G | |
2 | g.223053157G>A | CA431669515 | KCNE4 | c.327G>A (p.Val109=) c.480G>A (p.Val160=) n.75+883G>A | |
2 | g.223053157G>C | CA431669516 | KCNE4 | c.327G>C (p.Val109=) c.480G>C (p.Val160=) n.75+883G>C | |
2 | g.223053157G>T | CA431669518 | KCNE4 | c.327G>T (p.Val109=) c.480G>T (p.Val160=) n.75+883G>T | |
2 | g.223053158G>A | CA351121311 | KCNE4 | c.328G>A (p.Ala110Thr) c.481G>A (p.Ala161Thr) n.75+884G>A | |
2 | g.223053158G>C | CA351121310 | KCNE4 | c.328G>C (p.Ala110Pro) c.481G>C (p.Ala161Pro) n.75+884G>C | gnomAD v4 |
2 | g.223053158G>T | CA351121309 | KCNE4 | c.328G>T (p.Ala110Ser) c.481G>T (p.Ala161Ser) n.75+884G>T | |
2 | g.223053159C>A | CA351121312 | KCNE4 | c.329C>A (p.Ala110Glu) c.482C>A (p.Ala161Glu) n.75+885C>A | |
2 | g.223053159C= | CA1330889658 | KCNE4 | c.329C= (p.Ala110=) c.482C= (p.Ala161=) n.75+885C= | |
2 | g.223053159C>G | CA351121313 | KCNE4 | c.329C>G (p.Ala110Gly) c.482C>G (p.Ala161Gly) n.75+885C>G | |
2 | g.223053159C>T | CA351121314 | KCNE4 | c.329C>T (p.Ala110Val) c.482C>T (p.Ala161Val) n.75+885C>T | dbSNP gnomAD v4 |
2 | g.223053160G>A | CA431669520 | KCNE4 | c.330G>A (p.Ala110=) c.483G>A (p.Ala161=) n.75+886G>A | gnomAD v4 COSMIC |
2 | g.223053160G>C | CA431669521 | KCNE4 | c.330G>C (p.Ala110=) c.483G>C (p.Ala161=) n.75+886G>C | |
2 | g.223053160G= | CA1330889659 | KCNE4 | c.330G= (p.Ala110=) c.483G= (p.Ala161=) n.75+886G= | |
2 | g.223053160G>T | CA431669522 | KCNE4 | c.330G>T (p.Ala110=) c.483G>T (p.Ala161=) n.75+886G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053161C>A | CA351121315 | KCNE4 | c.331C>A (p.Pro111Thr) c.484C>A (p.Pro162Thr) n.75+887C>A | |
2 | g.223053161C>G | CA351121316 | KCNE4 | c.331C>G (p.Pro111Ala) c.484C>G (p.Pro162Ala) n.75+887C>G | |
2 | g.223053161C>T | CA351121317 | KCNE4 | c.331C>T (p.Pro111Ser) c.484C>T (p.Pro162Ser) n.75+887C>T | |
2 | g.223053163del | CA2842461043 | KCNE4 | c.333del (p.Ala112ArgfsTer14) c.486del (p.Ala163ArgfsTer14) n.75+889del | |
2 | g.223053162C>A | CA351121318 | KCNE4 | c.332C>A (p.Pro111His) c.485C>A (p.Pro162His) n.75+888C>A | |
2 | g.223053162C>G | CA351121319 | KCNE4 | c.332C>G (p.Pro111Arg) c.485C>G (p.Pro162Arg) n.75+888C>G | |
2 | g.223053162C>T | CA351121320 | KCNE4 | c.332C>T (p.Pro111Leu) c.485C>T (p.Pro162Leu) n.75+888C>T | |
2 | g.223053163C>A | CA431669525 | KCNE4 | c.333C>A (p.Pro111=) c.486C>A (p.Pro162=) n.75+889C>A | |
2 | g.223053163C= | CA1330889660 | KCNE4 | c.333C= (p.Pro111=) c.486C= (p.Pro162=) n.75+889C= | |
2 | g.223053163C>G | CA2137838 | KCNE4 | c.333C>G (p.Pro111=) c.486C>G (p.Pro162=) n.75+889C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053163C>T | CA431669524 | KCNE4 | c.333C>T (p.Pro111=) c.486C>T (p.Pro162=) n.75+889C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053164G>A | CA2137839 | KCNE4 | c.334G>A (p.Ala112Thr) c.487G>A (p.Ala163Thr) n.75+890G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053164G>C | CA351121321 | KCNE4 | c.334G>C (p.Ala112Pro) c.487G>C (p.Ala163Pro) n.75+890G>C | |
2 | g.223053164G= | CA1330889661 | KCNE4 | c.334G= (p.Ala112=) c.487G= (p.Ala163=) n.75+890G= | |
2 | g.223053164G>T | CA351121322 | KCNE4 | c.334G>T (p.Ala112Ser) c.487G>T (p.Ala163Ser) n.75+890G>T | ClinVar |
2 | g.223053165C>A | CA351121325 | KCNE4 | c.335C>A (p.Ala112Glu) c.488C>A (p.Ala163Glu) n.75+891C>A | |
2 | g.223053165C>G | CA351121323 | KCNE4 | c.335C>G (p.Ala112Gly) c.488C>G (p.Ala163Gly) n.75+891C>G | |
2 | g.223053165C>T | CA351121324 | KCNE4 | c.335C>T (p.Ala112Val) c.488C>T (p.Ala163Val) n.75+891C>T | gnomAD v3 gnomAD v4 |
2 | g.223053166G>A | CA431669527 | KCNE4 | c.336G>A (p.Ala112=) c.489G>A (p.Ala163=) n.75+892G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.223053166G>C | CA431669528 | KCNE4 | c.336G>C (p.Ala112=) c.489G>C (p.Ala163=) n.75+892G>C | |
2 | g.223053166G= | CA1330889662 | KCNE4 | c.336G= (p.Ala112=) c.489G= (p.Ala163=) n.75+892G= | |
2 | g.223053166G>T | CA2137840 | KCNE4 | c.336G>T (p.Ala112=) c.489G>T (p.Ala163=) n.75+892G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |