Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.223053165C>ACA351121325KCNE4c.335C>A (p.Ala112Glu)
c.488C>A (p.Ala163Glu)
n.75+891C>A
2g.223053165C>GCA351121323KCNE4c.335C>G (p.Ala112Gly)
c.488C>G (p.Ala163Gly)
n.75+891C>G
2g.223053165C>TCA351121324KCNE4c.335C>T (p.Ala112Val)
c.488C>T (p.Ala163Val)
n.75+891C>T
 gnomAD v3 gnomAD v4
2g.223053166G>ACA431669527KCNE4c.336G>A (p.Ala112=)
c.489G>A (p.Ala163=)
n.75+892G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.223053166G>CCA431669528KCNE4c.336G>C (p.Ala112=)
c.489G>C (p.Ala163=)
n.75+892G>C
2g.223053166G=CA1330889662KCNE4c.336G= (p.Ala112=)
c.489G= (p.Ala163=)
n.75+892G=
2g.223053166G>TCA2137840KCNE4c.336G>T (p.Ala112=)
c.489G>T (p.Ala163=)
n.75+892G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053167C>ACA351121326KCNE4c.337C>A (p.Leu113Met)
c.490C>A (p.Leu164Met)
n.75+893C>A
2g.223053167C=CA1330889663KCNE4c.337C= (p.Leu113=)
c.490C= (p.Leu164=)
n.75+893C=
2g.223053167C>GCA351121327KCNE4c.337C>G (p.Leu113Val)
c.490C>G (p.Leu164Val)
n.75+893C>G
2g.223053167C>TCA431669529KCNE4c.337C>T (p.Leu113=)
c.490C>T (p.Leu164=)
n.75+893C>T
 dbSNP gnomAD v2 gnomAD v4
2g.223053168T>ACA351121328KCNE4c.338T>A (p.Leu113Gln)
c.491T>A (p.Leu164Gln)
n.75+894T>A
2g.223053168T>CCA351121329KCNE4c.338T>C (p.Leu113Pro)
c.491T>C (p.Leu164Pro)
n.75+894T>C
2g.223053168T>GCA351121330KCNE4c.338T>G (p.Leu113Arg)
c.491T>G (p.Leu164Arg)
n.75+894T>G
2g.223053169G>ACA66396449KCNE4c.339G>A (p.Leu113=)
c.492G>A (p.Leu164=)
n.75+895G>A
 dbSNP gnomAD v2 gnomAD v4
2g.223053169G>CCA431669531KCNE4c.339G>C (p.Leu113=)
c.492G>C (p.Leu164=)
n.75+895G>C
2g.223053169G=CA1330889664KCNE4c.339G= (p.Leu113=)
c.492G= (p.Leu164=)
n.75+895G=
2g.223053169G>TCA431669530KCNE4c.339G>T (p.Leu113=)
c.492G>T (p.Leu164=)
n.75+895G>T
2g.223053170T>ACA351121331KCNE4c.340T>A (p.Ser114Thr)
c.493T>A (p.Ser165Thr)
n.75+896T>A
2g.223053170T>CCA351121332KCNE4c.340T>C (p.Ser114Pro)
c.493T>C (p.Ser165Pro)
n.75+896T>C
 dbSNP
2g.223053170T>GCA351121333KCNE4c.340T>G (p.Ser114Ala)
c.493T>G (p.Ser165Ala)
n.75+896T>G
2g.223053171C>ACA351121334KCNE4c.341C>A (p.Ser114Tyr)
c.494C>A (p.Ser165Tyr)
n.75+897C>A
2g.223053171C=CA1330889665KCNE4c.341C= (p.Ser114=)
c.494C= (p.Ser165=)
n.75+897C=
2g.223053171C>GCA351121335KCNE4c.341C>G (p.Ser114Cys)
c.494C>G (p.Ser165Cys)
n.75+897C>G
 dbSNP gnomAD v2
2g.223053171C>TCA351121336KCNE4c.341C>T (p.Ser114Phe)
c.494C>T (p.Ser165Phe)
n.75+897C>T
2g.223053172C>ACA431669532KCNE4c.342C>A (p.Ser114=)
c.495C>A (p.Ser165=)
n.75+898C>A
2g.223053172C=CA1330889666KCNE4c.342C= (p.Ser114=)
c.495C= (p.Ser165=)
n.75+898C=
2g.223053172C>GCA431669533KCNE4c.342C>G (p.Ser114=)
c.495C>G (p.Ser165=)
n.75+898C>G
2g.223053172C>TCA431669534KCNE4c.342C>T (p.Ser114=)
c.495C>T (p.Ser165=)
n.75+898C>T
 dbSNP gnomAD v4
2g.223053173T>ACA351121338KCNE4c.343T>A (p.Cys115Ser)
c.496T>A (p.Cys166Ser)
n.75+899T>A
2g.223053173T>CCA351121339KCNE4c.343T>C (p.Cys115Arg)
c.496T>C (p.Cys166Arg)
n.75+899T>C
 gnomAD v4
2g.223053173T>GCA351121337KCNE4c.343T>G (p.Cys115Gly)
c.496T>G (p.Cys166Gly)
n.75+899T>G
2g.223053174G>ACA351121340KCNE4c.344G>A (p.Cys115Tyr)
c.497G>A (p.Cys166Tyr)
n.75+900G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053174G>CCA351121342KCNE4c.344G>C (p.Cys115Ser)
c.497G>C (p.Cys166Ser)
n.75+900G>C
2g.223053174G=CA1330889667KCNE4c.344G= (p.Cys115=)
c.497G= (p.Cys166=)
n.75+900G=
2g.223053174G>TCA351121341KCNE4c.344G>T (p.Cys115Phe)
c.497G>T (p.Cys166Phe)
n.75+900G>T
2g.223053175C>ACA351121343KCNE4c.345C>A (p.Cys115Ter)
c.498C>A (p.Cys166Ter)
n.75+901C>A
2g.223053175C>GCA351121344KCNE4c.345C>G (p.Cys115Trp)
c.498C>G (p.Cys166Trp)
n.75+901C>G
2g.223053175C>TCA431669535KCNE4c.345C>T (p.Cys115=)
c.498C>T (p.Cys166=)
n.75+901C>T
2g.223053176A=CA1330889668KCNE4c.346A= (p.Thr116=)
c.499A= (p.Thr167=)
n.75+902A=
2g.223053176A>CCA2137841KCNE4c.346A>C (p.Thr116Pro)
c.499A>C (p.Thr167Pro)
n.75+902A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053176A>GCA351121345KCNE4c.346A>G (p.Thr116Ala)
c.499A>G (p.Thr167Ala)
n.75+902A>G
 gnomAD v4
2g.223053176A>TCA351121346KCNE4c.346A>T (p.Thr116Ser)
c.499A>T (p.Thr167Ser)
n.75+902A>T
2g.223053177C>ACA351121347KCNE4c.347C>A (p.Thr116Asn)
c.500C>A (p.Thr167Asn)
n.75+903C>A
2g.223053177C>GCA351121348KCNE4c.347C>G (p.Thr116Ser)
c.500C>G (p.Thr167Ser)
n.75+903C>G
2g.223053177C>TCA351121349KCNE4c.347C>T (p.Thr116Ile)
c.500C>T (p.Thr167Ile)
n.75+903C>T
2g.223053178C>ACA431669536KCNE4c.348C>A (p.Thr116=)
c.501C>A (p.Thr167=)
n.75+904C>A
 dbSNP gnomAD v3 gnomAD v4
2g.223053178C=CA1330889669KCNE4c.348C= (p.Thr116=)
c.501C= (p.Thr167=)
n.75+904C=
2g.223053178C>GCA431669537KCNE4c.348C>G (p.Thr116=)
c.501C>G (p.Thr167=)
n.75+904C>G
2g.223053178C>TCA431669538KCNE4c.348C>T (p.Thr116=)
c.501C>T (p.Thr167=)
n.75+904C>T
 dbSNP gnomAD v3 gnomAD v4
2g.223053179C>ACA351121350KCNE4c.349C>A (p.Leu117Ile)
c.502C>A (p.Leu168Ile)
n.75+905C>A
2g.223053179C=CA1330889670KCNE4c.349C= (p.Leu117=)
c.502C= (p.Leu168=)
n.75+905C=
2g.223053179C>GCA2137842KCNE4c.349C>G (p.Leu117Val)
c.502C>G (p.Leu168Val)
n.75+905C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053179C>TCA351121351KCNE4c.349C>T (p.Leu117Phe)
c.502C>T (p.Leu168Phe)
n.75+905C>T
2g.223053180T>ACA351121352KCNE4c.350T>A (p.Leu117His)
c.503T>A (p.Leu168His)
n.75+906T>A
2g.223053180T>CCA351121353KCNE4c.350T>C (p.Leu117Pro)
c.503T>C (p.Leu168Pro)
n.75+906T>C
2g.223053180T>GCA351121354KCNE4c.350T>G (p.Leu117Arg)
c.503T>G (p.Leu168Arg)
n.75+906T>G
2g.223053181C>ACA431669539KCNE4c.351C>A (p.Leu117=)
c.504C>A (p.Leu168=)
n.75+907C>A
2g.223053181C=CA1330889671KCNE4c.351C= (p.Leu117=)
c.504C= (p.Leu168=)
n.75+907C=
2g.223053181C>GCA2137844KCNE4c.351C>G (p.Leu117=)
c.504C>G (p.Leu168=)
n.75+907C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053181C>TCA2137843KCNE4c.351C>T (p.Leu117=)
c.504C>T (p.Leu168=)
n.75+907C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053182T>ACA351121355KCNE4c.352T>A (p.Cys118Ser)
c.505T>A (p.Cys169Ser)
n.75+908T>A
2g.223053182T>CCA351121356KCNE4c.352T>C (p.Cys118Arg)
c.505T>C (p.Cys169Arg)
n.75+908T>C
2g.223053182T>GCA351121357KCNE4c.352T>G (p.Cys118Gly)
c.505T>G (p.Cys169Gly)
n.75+908T>G
 gnomAD v4
2g.223053183G>ACA351121358KCNE4c.353G>A (p.Cys118Tyr)
c.506G>A (p.Cys169Tyr)
n.75+909G>A
 gnomAD v4
2g.223053183G>CCA351121359KCNE4c.353G>C (p.Cys118Ser)
c.506G>C (p.Cys169Ser)
n.75+909G>C
2g.223053183G>TCA351121360KCNE4c.353G>T (p.Cys118Phe)
c.506G>T (p.Cys169Phe)
n.75+909G>T
2g.223053184T>ACA351121361KCNE4c.354T>A (p.Cys118Ter)
c.507T>A (p.Cys169Ter)
n.75+910T>A
2g.223053184T>CCA431669540KCNE4c.354T>C (p.Cys118=)
c.507T>C (p.Cys169=)
n.75+910T>C
 dbSNP
2g.223053184T>GCA351121362KCNE4c.354T>G (p.Cys118Trp)
c.507T>G (p.Cys169Trp)
n.75+910T>G
2g.223053185T>ACA351121363KCNE4c.355T>A (p.Ser119Thr)
c.508T>A (p.Ser170Thr)
n.75+911T>A
2g.223053185T>CCA2137845KCNE4c.355T>C (p.Ser119Pro)
c.508T>C (p.Ser170Pro)
n.75+911T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053185T>GCA351121364KCNE4c.355T>G (p.Ser119Ala)
c.508T>G (p.Ser170Ala)
n.75+911T>G
2g.223053185T=CA1330889672KCNE4c.355T= (p.Ser119=)
c.508T= (p.Ser170=)
n.75+911T=
2g.223053186C>ACA351121366KCNE4c.356C>A (p.Ser119Tyr)
c.509C>A (p.Ser170Tyr)
n.75+912C>A
2g.223053186C=CA1330889673KCNE4c.356C= (p.Ser119=)
c.509C= (p.Ser170=)
n.75+912C=
2g.223053186C>GCA351121367KCNE4c.356C>G (p.Ser119Cys)
c.509C>G (p.Ser170Cys)
n.75+912C>G
 dbSNP gnomAD v2 gnomAD v4
2g.223053186C>TCA351121365KCNE4c.356C>T (p.Ser119Phe)
c.509C>T (p.Ser170Phe)
n.75+912C>T
2g.223053187C>ACA431595293KCNE4c.357C>A (p.Ser119=)
c.510C>A (p.Ser170=)
n.75+913C>A
2g.223053187C>GCA431595294KCNE4c.357C>G (p.Ser119=)
c.510C>G (p.Ser170=)
n.75+913C>G
2g.223053187C>TCA431595295KCNE4c.357C>T (p.Ser119=)
c.510C>T (p.Ser170=)
n.75+913C>T
2g.223053188A=CA1330889674KCNE4c.358A= (p.Met120=)
c.511A= (p.Met171=)
n.75+914A=
2g.223053188A>CCA351121368KCNE4c.358A>C (p.Met120Leu)
c.511A>C (p.Met171Leu)
n.75+914A>C
2g.223053188A>GCA351121369KCNE4c.358A>G (p.Met120Val)
c.511A>G (p.Met171Val)
n.75+914A>G
 dbSNP gnomAD v2 gnomAD v4
2g.223053188A>TCA351121370KCNE4c.358A>T (p.Met120Leu)
c.511A>T (p.Met171Leu)
n.75+914A>T
2g.223053189T>ACA351121371KCNE4c.359T>A (p.Met120Lys)
c.512T>A (p.Met171Lys)
n.75+915T>A
2g.223053189T>CCA351121372KCNE4c.359T>C (p.Met120Thr)
c.512T>C (p.Met171Thr)
n.75+915T>C
 dbSNP gnomAD v2 gnomAD v4
2g.223053189T>GCA351121373KCNE4c.359T>G (p.Met120Arg)
c.512T>G (p.Met171Arg)
n.75+915T>G
2g.223053189T=CA1330889675KCNE4c.359T= (p.Met120=)
c.512T= (p.Met171=)
n.75+915T=
2g.223053190G>ACA351121374KCNE4c.360G>A (p.Met120Ile)
c.513G>A (p.Met171Ile)
n.75+916G>A
 dbSNP gnomAD v4
2g.223053190G>CCA351121375KCNE4c.360G>C (p.Met120Ile)
c.513G>C (p.Met171Ile)
n.75+916G>C
2g.223053190G=CA1330889676KCNE4c.360G= (p.Met120=)
c.513G= (p.Met171=)
n.75+916G=
2g.223053190G>TCA351121376KCNE4c.360G>T (p.Met120Ile)
c.513G>T (p.Met171Ile)
n.75+916G>T
2g.223053191G>ACA351121377KCNE4c.361G>A (p.Glu121Lys)
c.514G>A (p.Glu172Lys)
n.75+917G>A
2g.223053191G>CCA351121378KCNE4c.361G>C (p.Glu121Gln)
c.514G>C (p.Glu172Gln)
n.75+917G>C
2g.223053191G>TCA351121379KCNE4c.361G>T (p.Glu121Ter)
c.514G>T (p.Glu172Ter)
n.75+917G>T
 gnomAD v4
2g.223053192A>CCA351121381KCNE4c.362A>C (p.Glu121Ala)
c.515A>C (p.Glu172Ala)
n.75+918A>C
2g.223053192A>GCA351121382KCNE4c.362A>G (p.Glu121Gly)
c.515A>G (p.Glu172Gly)
n.75+918A>G
2g.223053192A>TCA351121380KCNE4c.362A>T (p.Glu121Val)
c.515A>T (p.Glu172Val)
n.75+918A>T
2g.223053193A>CCA351121383KCNE4c.363A>C (p.Glu121Asp)
c.516A>C (p.Glu172Asp)
n.75+919A>C
2g.223053193A>GCA431595296KCNE4c.363A>G (p.Glu121=)
c.516A>G (p.Glu172=)
n.75+919A>G
2g.223053193A>TCA351121384KCNE4c.363A>T (p.Glu121Asp)
c.516A>T (p.Glu172Asp)
n.75+919A>T
2g.223053194G>ACA351121385KCNE4c.364G>A (p.Gly122Arg)
c.517G>A (p.Gly173Arg)
n.75+920G>A
 COSMIC
2g.223053194G>CCA351121386KCNE4c.364G>C (p.Gly122Arg)
c.517G>C (p.Gly173Arg)
n.75+920G>C
2g.223053194G>TCA351121387KCNE4c.364G>T (p.Gly122Trp)
c.517G>T (p.Gly173Trp)
n.75+920G>T
2g.223053195G>ACA351121390KCNE4c.365G>A (p.Gly122Glu)
c.518G>A (p.Gly173Glu)
n.75+921G>A
 dbSNP gnomAD v4
2g.223053195G>CCA351121388KCNE4c.365G>C (p.Gly122Ala)
c.518G>C (p.Gly173Ala)
n.75+921G>C
 dbSNP gnomAD v3 gnomAD v4
2g.223053195G=CA1330889677KCNE4c.365G= (p.Gly122=)
c.518G= (p.Gly173=)
n.75+921G=
2g.223053195G>TCA351121389KCNE4c.365G>T (p.Gly122Val)
c.518G>T (p.Gly173Val)
n.75+921G>T
 COSMIC
2g.223053196G>ACA431595298KCNE4c.366G>A (p.Gly122=)
c.519G>A (p.Gly173=)
n.75+922G>A
2g.223053196G>CCA431595299KCNE4c.366G>C (p.Gly122=)
c.519G>C (p.Gly173=)
n.75+922G>C
2g.223053196G>TCA431595300KCNE4c.366G>T (p.Gly122=)
c.519G>T (p.Gly173=)
n.75+922G>T
 gnomAD v4
2g.223053197G>ACA351121391KCNE4c.367G>A (p.Asp123Asn)
c.520G>A (p.Asp174Asn)
n.75+923G>A
2g.223053197G>CCA351121392KCNE4c.367G>C (p.Asp123His)
c.520G>C (p.Asp174His)
n.75+923G>C
2g.223053197G=CA1330889678KCNE4c.367G= (p.Asp123=)
c.520G= (p.Asp174=)
n.75+923G=
2g.223053197G>TCA2137846KCNE4c.367G>T (p.Asp123Tyr)
c.520G>T (p.Asp174Tyr)
n.75+923G>T
 dbSNP ExAC gnomAD v2
2g.223053198A>CCA351121393KCNE4c.368A>C (p.Asp123Ala)
c.521A>C (p.Asp174Ala)
n.75+924A>C
2g.223053198A>GCA351121394KCNE4c.368A>G (p.Asp123Gly)
c.521A>G (p.Asp174Gly)
n.75+924A>G
2g.223053198A>TCA351121395KCNE4c.368A>T (p.Asp123Val)
c.521A>T (p.Asp174Val)
n.75+924A>T
2g.223053199C>ACA351121396KCNE4c.369C>A (p.Asp123Glu)
c.522C>A (p.Asp174Glu)
n.75+925C>A
2g.223053199C>GCA351121397KCNE4c.369C>G (p.Asp123Glu)
c.522C>G (p.Asp174Glu)
n.75+925C>G
2g.223053199C>TCA431595301KCNE4c.369C>T (p.Asp123=)
c.522C>T (p.Asp174=)
n.75+925C>T
2g.223053199_223053200delinsCACA1330889679KCNE4c.369_370delinsCA (p.Asp123=)
c.522_523delinsCA (p.Asp174=)
n.75+925_75+926delinsCA
2g.223053200delCA539515959KCNE4c.370del (p.Ser124AlafsTer2)
c.523del (p.Ser175AlafsTer2)
n.75+926del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053200A>CCA351121398KCNE4c.370A>C (p.Ser124Arg)
c.523A>C (p.Ser175Arg)
n.75+926A>C
2g.223053200A>GCA351121400KCNE4c.370A>G (p.Ser124Gly)
c.523A>G (p.Ser175Gly)
n.75+926A>G
2g.223053200A>TCA351121399KCNE4c.370A>T (p.Ser124Cys)
c.523A>T (p.Ser175Cys)
n.75+926A>T
2g.223053201G>ACA351121401KCNE4c.371G>A (p.Ser124Asn)
c.524G>A (p.Ser175Asn)
n.75+927G>A
 gnomAD v4
2g.223053201G>CCA351121402KCNE4c.371G>C (p.Ser124Thr)
c.524G>C (p.Ser175Thr)
n.75+927G>C
2g.223053201G>TCA351121403KCNE4c.371G>T (p.Ser124Ile)
c.524G>T (p.Ser175Ile)
n.75+927G>T
2g.223053202C>ACA351121404KCNE4c.372C>A (p.Ser124Arg)
c.525C>A (p.Ser175Arg)
n.75+928C>A
2g.223053202C>GCA351121405KCNE4c.372C>G (p.Ser124Arg)
c.525C>G (p.Ser175Arg)
n.75+928C>G
2g.223053202C>TCA431595302KCNE4c.372C>T (p.Ser124=)
c.525C>T (p.Ser175=)
n.75+928C>T
 gnomAD v4 COSMIC
2g.223053203G>ACA351121406KCNE4c.373G>A (p.Val125Met)
c.526G>A (p.Val176Met)
n.75+929G>A
 gnomAD v4
2g.223053203G>CCA351121407KCNE4c.373G>C (p.Val125Leu)
c.526G>C (p.Val176Leu)
n.75+929G>C
2g.223053203G>TCA351121408KCNE4c.373G>T (p.Val125Leu)
c.526G>T (p.Val176Leu)
n.75+929G>T
 COSMIC
2g.223053204T>ACA351121409KCNE4c.374T>A (p.Val125Glu)
c.527T>A (p.Val176Glu)
n.75+930T>A
2g.223053204T>CCA351121410KCNE4c.374T>C (p.Val125Ala)
c.527T>C (p.Val176Ala)
n.75+930T>C
 dbSNP
2g.223053204T>GCA351121411KCNE4c.374T>G (p.Val125Gly)
c.527T>G (p.Val176Gly)
n.75+930T>G
2g.223053204T=CA1330889680KCNE4c.374T= (p.Val125=)
c.527T= (p.Val176=)
n.75+930T=
2g.223053205G>ACA431595303KCNE4c.375G>A (p.Val125=)
c.528G>A (p.Val176=)
n.75+931G>A
2g.223053205G>CCA2137847KCNE4c.375G>C (p.Val125=)
c.528G>C (p.Val176=)
n.75+931G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053205G=CA1330889681KCNE4c.375G= (p.Val125=)
c.528G= (p.Val176=)
n.75+931G=
2g.223053205G>TCA431595304KCNE4c.375G>T (p.Val125=)
c.528G>T (p.Val176=)
n.75+931G>T
2g.223053206A=CA1330889682KCNE4c.376A= (p.Ser126=)
c.529A= (p.Ser177=)
n.75+932A=
2g.223053206A>CCA351121414KCNE4c.376A>C (p.Ser126Arg)
c.529A>C (p.Ser177Arg)
n.75+932A>C
2g.223053206A>GCA351121412KCNE4c.376A>G (p.Ser126Gly)
c.529A>G (p.Ser177Gly)
n.75+932A>G
 dbSNP gnomAD v2 gnomAD v4
2g.223053206A>TCA351121413KCNE4c.376A>T (p.Ser126Cys)
c.529A>T (p.Ser177Cys)
n.75+932A>T
2g.223053207G>ACA351121415KCNE4c.377G>A (p.Ser126Asn)
c.530G>A (p.Ser177Asn)
n.75+933G>A
2g.223053207G>CCA351121416KCNE4c.377G>C (p.Ser126Thr)
c.530G>C (p.Ser177Thr)
n.75+933G>C
2g.223053207G>TCA351121417KCNE4c.377G>T (p.Ser126Ile)
c.530G>T (p.Ser177Ile)
n.75+933G>T
2g.223053208C>ACA351121418KCNE4c.378C>A (p.Ser126Arg)
c.531C>A (p.Ser177Arg)
n.75+934C>A
 COSMIC
2g.223053208C>GCA351121419KCNE4c.378C>G (p.Ser126Arg)
c.531C>G (p.Ser177Arg)
n.75+934C>G
2g.223053208C>TCA431595305KCNE4c.378C>T (p.Ser126=)
c.531C>T (p.Ser177=)
n.75+934C>T
2g.223053209T>ACA351121420KCNE4c.379T>A (p.Ser127Thr)
c.532T>A (p.Ser178Thr)
n.75+935T>A
2g.223053209T>CCA351121421KCNE4c.379T>C (p.Ser127Pro)
c.532T>C (p.Ser178Pro)
n.75+935T>C
2g.223053209T>GCA351121422KCNE4c.379T>G (p.Ser127Ala)
c.532T>G (p.Ser178Ala)
n.75+935T>G
2g.223053210C>ACA351121423KCNE4c.380C>A (p.Ser127Tyr)
c.533C>A (p.Ser178Tyr)
n.75+936C>A
2g.223053210C>GCA351121424KCNE4c.380C>G (p.Ser127Cys)
c.533C>G (p.Ser178Cys)
n.75+936C>G
2g.223053210C>TCA351121425KCNE4c.380C>T (p.Ser127Phe)
c.533C>T (p.Ser178Phe)
n.75+936C>T
2g.223053211C>ACA431595306KCNE4c.381C>A (p.Ser127=)
c.534C>A (p.Ser178=)
n.75+937C>A
2g.223053211C=CA1330889683KCNE4c.381C= (p.Ser127=)
c.534C= (p.Ser178=)
n.75+937C=
2g.223053211C>GCA431595307KCNE4c.381C>G (p.Ser127=)
c.534C>G (p.Ser178=)
n.75+937C>G
2g.223053211C>TCA431595308KCNE4c.381C>T (p.Ser127=)
c.534C>T (p.Ser178=)
n.75+937C>T
 dbSNP gnomAD v2 gnomAD v4
2g.223053212G>ACA351121428KCNE4c.382G>A (p.Glu128Lys)
c.535G>A (p.Glu179Lys)
n.75+938G>A
2g.223053212G>CCA351121427KCNE4c.382G>C (p.Glu128Gln)
c.535G>C (p.Glu179Gln)
n.75+938G>C
2g.223053212G>TCA351121426KCNE4c.382G>T (p.Glu128Ter)
c.535G>T (p.Glu179Ter)
n.75+938G>T
 gnomAD v4
2g.223053213A>CCA351121429KCNE4c.383A>C (p.Glu128Ala)
c.536A>C (p.Glu179Ala)
n.75+939A>C
 gnomAD v4
2g.223053213A>GCA351121430KCNE4c.383A>G (p.Glu128Gly)
c.536A>G (p.Glu179Gly)
n.75+939A>G
 gnomAD v4
2g.223053213A>TCA351121431KCNE4c.383A>T (p.Glu128Val)
c.536A>T (p.Glu179Val)
n.75+939A>T
2g.223053214G>ACA431595309KCNE4c.384G>A (p.Glu128=)
c.537G>A (p.Glu179=)
n.75+940G>A
2g.223053214G>CCA351121432KCNE4c.384G>C (p.Glu128Asp)
c.537G>C (p.Glu179Asp)
n.75+940G>C
 gnomAD v4
2g.223053214G>TCA351121433KCNE4c.384G>T (p.Glu128Asp)
c.537G>T (p.Glu179Asp)
n.75+940G>T
 gnomAD v4
2g.223053214_223053217delinsGTCCCA1330889684KCNE4c.384_387delinsGTCC (p.Glu128=)
c.537_540delinsGTCC (p.Glu179=)
n.75+940_75+943delinsGTCC
2g.223053215T>ACA351121434KCNE4c.385T>A (p.Ser129Thr)
c.538T>A (p.Ser180Thr)
n.75+941T>A
2g.223053215T>CCA351121435KCNE4c.385T>C (p.Ser129Pro)
c.538T>C (p.Ser180Pro)
n.75+941T>C
2g.223053215T>GCA351121436KCNE4c.385T>G (p.Ser129Ala)
c.538T>G (p.Ser180Ala)
n.75+941T>G
2g.223053221_223053223delCA2137848KCNE4c.391_393del (p.Ser131del)
c.544_546del (p.Ser182del)
n.75+947_75+949del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053216C>ACA351121437KCNE4c.386C>A (p.Ser129Tyr)
c.539C>A (p.Ser180Tyr)
n.75+942C>A
2g.223053216C>GCA351121438KCNE4c.386C>G (p.Ser129Cys)
c.539C>G (p.Ser180Cys)
n.75+942C>G
 gnomAD v4
2g.223053216C>TCA351121439KCNE4c.386C>T (p.Ser129Phe)
c.539C>T (p.Ser180Phe)
n.75+942C>T
2g.223053217C>ACA431595311KCNE4c.387C>A (p.Ser129=)
c.540C>A (p.Ser180=)
n.75+943C>A
2g.223053217C=CA1330889685KCNE4c.387C= (p.Ser129=)
c.540C= (p.Ser180=)
n.75+943C=
2g.223053217C>GCA431595312KCNE4c.387C>G (p.Ser129=)
c.540C>G (p.Ser180=)
n.75+943C>G
2g.223053217C>TCA431595313KCNE4c.387C>T (p.Ser129=)
c.540C>T (p.Ser180=)
n.75+943C>T
 dbSNP gnomAD v2 gnomAD v4
2g.223053218T>ACA351121442KCNE4c.388T>A (p.Ser130Thr)
c.541T>A (p.Ser181Thr)
n.75+944T>A
2g.223053218T>CCA351121440KCNE4c.388T>C (p.Ser130Pro)
c.541T>C (p.Ser181Pro)
n.75+944T>C
2g.223053218T>GCA351121441KCNE4c.388T>G (p.Ser130Ala)
c.541T>G (p.Ser181Ala)
n.75+944T>G
2g.223053219C>ACA351121443KCNE4c.389C>A (p.Ser130Tyr)
c.542C>A (p.Ser181Tyr)
n.75+945C>A
2g.223053219C>GCA351121444KCNE4c.389C>G (p.Ser130Cys)
c.542C>G (p.Ser181Cys)
n.75+945C>G
2g.223053219C>TCA351121445KCNE4c.389C>T (p.Ser130Phe)
c.542C>T (p.Ser181Phe)
n.75+945C>T
 COSMIC
2g.223053220C>ACA431595314KCNE4c.390C>A (p.Ser130=)
c.543C>A (p.Ser181=)
n.75+946C>A
2g.223053220C>GCA431595315KCNE4c.390C>G (p.Ser130=)
c.543C>G (p.Ser181=)
n.75+946C>G
2g.223053220C>TCA431595316KCNE4c.390C>T (p.Ser130=)
c.543C>T (p.Ser181=)
n.75+946C>T
 gnomAD v4
2g.223053221T>ACA351121446KCNE4c.391T>A (p.Ser131Thr)
c.544T>A (p.Ser182Thr)
n.75+947T>A
2g.223053221T>CCA351121447KCNE4c.391T>C (p.Ser131Pro)
c.544T>C (p.Ser182Pro)
n.75+947T>C
2g.223053221T>GCA351121448KCNE4c.391T>G (p.Ser131Ala)
c.544T>G (p.Ser182Ala)
n.75+947T>G
 COSMIC
2g.223053222C>ACA351121449KCNE4c.392C>A (p.Ser131Tyr)
c.545C>A (p.Ser182Tyr)
n.75+948C>A
2g.223053222C=CA1330889686KCNE4c.392C= (p.Ser131=)
c.545C= (p.Ser182=)
n.75+948C=
2g.223053222C>GCA351121450KCNE4c.392C>G (p.Ser131Cys)
c.545C>G (p.Ser182Cys)
n.75+948C>G
 gnomAD v4
2g.223053222C>TCA2137849KCNE4c.392C>T (p.Ser131Phe)
c.545C>T (p.Ser182Phe)
n.75+948C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.223053223C>ACA431595317KCNE4c.393C>A (p.Ser131=)
c.546C>A (p.Ser182=)
n.75+949C>A
2g.223053223C>GCA431595319KCNE4c.393C>G (p.Ser131=)
c.546C>G (p.Ser182=)
n.75+949C>G
2g.223053223C>TCA431595318KCNE4c.393C>T (p.Ser131=)
c.546C>T (p.Ser182=)
n.75+949C>T
2g.223053224C>ACA351121451KCNE4c.394C>A (p.Pro132Thr)
c.547C>A (p.Pro183Thr)
n.75+950C>A
2g.223053224C>GCA351121452KCNE4c.394C>G (p.Pro132Ala)
c.547C>G (p.Pro183Ala)
n.75+950C>G
2g.223053224C>TCA351121453KCNE4c.394C>T (p.Pro132Ser)
c.547C>T (p.Pro183Ser)
n.75+950C>T
2g.223053225C>ACA351121454KCNE4c.395C>A (p.Pro132Gln)
c.548C>A (p.Pro183Gln)
n.75+951C>A
 gnomAD v4 COSMIC
2g.223053225C=CA1330889687KCNE4c.395C= (p.Pro132=)
c.548C= (p.Pro183=)
n.75+951C=
2g.223053225C>GCA351121456KCNE4c.395C>G (p.Pro132Arg)
c.548C>G (p.Pro183Arg)
n.75+951C>G
2g.223053225C>TCA351121455KCNE4c.395C>T (p.Pro132Leu)
c.548C>T (p.Pro183Leu)
n.75+951C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.223053226G>ACA431595320KCNE4c.396G>A (p.Pro132=)
c.549G>A (p.Pro183=)
n.75+952G>A
 dbSNP gnomAD v3 gnomAD v4
2g.223053226G>CCA431595321KCNE4c.396G>C (p.Pro132=)
c.549G>C (p.Pro183=)
n.75+952G>C
2g.223053226G=CA1330889688KCNE4c.396G= (p.Pro132=)
c.549G= (p.Pro183=)
n.75+952G=
2g.223053226G>TCA431595322KCNE4c.396G>T (p.Pro132=)
c.549G>T (p.Pro183=)
n.75+952G>T
2g.223053227G>ACA351121457KCNE4c.397G>A (p.Asp133Asn)
c.550G>A (p.Asp184Asn)
n.75+953G>A
 dbSNP gnomAD v2 gnomAD v4
2g.223053227G>CCA351121459KCNE4c.397G>C (p.Asp133His)
c.550G>C (p.Asp184His)
n.75+953G>C
 COSMIC
2g.223053227G=CA1330889689KCNE4c.397G= (p.Asp133=)
c.550G= (p.Asp184=)
n.75+953G=
2g.223053227G>TCA351121458KCNE4c.397G>T (p.Asp133Tyr)
c.550G>T (p.Asp184Tyr)
n.75+953G>T
2g.223053228A>CCA351121460KCNE4c.398A>C (p.Asp133Ala)
c.551A>C (p.Asp184Ala)
n.75+954A>C
2g.223053228A>GCA351121462KCNE4c.398A>G (p.Asp133Gly)
c.551A>G (p.Asp184Gly)
n.75+954A>G
2g.223053228A>TCA351121461KCNE4c.398A>T (p.Asp133Val)
c.551A>T (p.Asp184Val)
n.75+954A>T
2g.223053229C>ACA2137850KCNE4c.399C>A (p.Asp133Glu)
c.552C>A (p.Asp184Glu)
n.75+955C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053229C=CA1330889690KCNE4c.399C= (p.Asp133=)
c.552C= (p.Asp184=)
n.75+955C=
2g.223053229C>GCA351121463KCNE4c.399C>G (p.Asp133Glu)
c.552C>G (p.Asp184Glu)
n.75+955C>G
 dbSNP gnomAD v2 gnomAD v4
2g.223053229C>TCA431595323KCNE4c.399C>T (p.Asp133=)
c.552C>T (p.Asp184=)
n.75+955C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053230G>ACA2137851KCNE4c.400G>A (p.Val134Met)
c.553G>A (p.Val185Met)
n.75+956G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053230G>CCA351121464KCNE4c.400G>C (p.Val134Leu)
c.553G>C (p.Val185Leu)
n.75+956G>C
 dbSNP gnomAD v3 gnomAD v4
2g.223053230G=CA1330889691KCNE4c.400G= (p.Val134=)
c.553G= (p.Val185=)
n.75+956G=
2g.223053230G>TCA351121465KCNE4c.400G>T (p.Val134Leu)
c.553G>T (p.Val185Leu)
n.75+956G>T
2g.223053231T>ACA351121468KCNE4c.401T>A (p.Val134Glu)
c.554T>A (p.Val185Glu)
n.75+957T>A
2g.223053231T>CCA351121467KCNE4c.401T>C (p.Val134Ala)
c.554T>C (p.Val185Ala)
n.75+957T>C
2g.223053231T>GCA351121466KCNE4c.401T>G (p.Val134Gly)
c.554T>G (p.Val185Gly)
n.75+957T>G
 gnomAD v4
2g.223053232G>ACA431595324KCNE4c.402G>A (p.Val134=)
c.555G>A (p.Val185=)
n.75+958G>A
2g.223053232G>CCA431595325KCNE4c.402G>C (p.Val134=)
c.555G>C (p.Val185=)
n.75+958G>C
2g.223053232G>TCA431595326KCNE4c.402G>T (p.Val134=)
c.555G>T (p.Val185=)
n.75+958G>T
2g.223053233C>ACA351121469KCNE4c.403C>A (p.His135Asn)
c.556C>A (p.His186Asn)
n.75+959C>A
2g.223053233C>GCA351121470KCNE4c.403C>G (p.His135Asp)
c.556C>G (p.His186Asp)
n.75+959C>G
2g.223053233C>TCA351121471KCNE4c.403C>T (p.His135Tyr)
c.556C>T (p.His186Tyr)
n.75+959C>T
 gnomAD v4
2g.223053234A>CCA351121472KCNE4c.404A>C (p.His135Pro)
c.557A>C (p.His186Pro)
n.75+960A>C
2g.223053234A>GCA351121473KCNE4c.404A>G (p.His135Arg)
c.557A>G (p.His186Arg)
n.75+960A>G
2g.223053234A>TCA351121474KCNE4c.404A>T (p.His135Leu)
c.557A>T (p.His186Leu)
n.75+960A>T
2g.223053235C>ACA351121475KCNE4c.405C>A (p.His135Gln)
c.558C>A (p.His186Gln)
n.75+961C>A
 dbSNP
2g.223053235C=CA1330889692KCNE4c.405C= (p.His135=)
c.558C= (p.His186=)
n.75+961C=
2g.223053235C>GCA351121476KCNE4c.405C>G (p.His135Gln)
c.558C>G (p.His186Gln)
n.75+961C>G
2g.223053235C>TCA2137852KCNE4c.405C>T (p.His135=)
c.558C>T (p.His186=)
n.75+961C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053236C>ACA351121477KCNE4c.406C>A (p.Leu136Ile)
c.559C>A (p.Leu187Ile)
n.75+962C>A
2g.223053236C>GCA351121478KCNE4c.406C>G (p.Leu136Val)
c.559C>G (p.Leu187Val)
n.75+962C>G
2g.223053236C>TCA351121479KCNE4c.406C>T (p.Leu136Phe)
c.559C>T (p.Leu187Phe)
n.75+962C>T
2g.223053237T>ACA351121480KCNE4c.407T>A (p.Leu136His)
c.560T>A (p.Leu187His)
n.75+963T>A
2g.223053237T>CCA351121481KCNE4c.407T>C (p.Leu136Pro)
c.560T>C (p.Leu187Pro)
n.75+963T>C
2g.223053237T>GCA351121482KCNE4c.407T>G (p.Leu136Arg)
c.560T>G (p.Leu187Arg)
n.75+963T>G
2g.223053238C>ACA431595327KCNE4c.408C>A (p.Leu136=)
c.561C>A (p.Leu187=)
n.75+964C>A
2g.223053238C=CA1330889693KCNE4c.408C= (p.Leu136=)
c.561C= (p.Leu187=)
n.75+964C=
2g.223053238C>GCA431595328KCNE4c.408C>G (p.Leu136=)
c.561C>G (p.Leu187=)
n.75+964C>G
2g.223053238C>TCA2137853KCNE4c.408C>T (p.Leu136=)
c.561C>T (p.Leu187=)
n.75+964C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053239A>CCA351121483KCNE4c.409A>C (p.Thr137Pro)
c.562A>C (p.Thr188Pro)
n.75+965A>C
2g.223053239A>GCA351121484KCNE4c.409A>G (p.Thr137Ala)
c.562A>G (p.Thr188Ala)
n.75+965A>G
 COSMIC
2g.223053239A>TCA351121485KCNE4c.409A>T (p.Thr137Ser)
c.562A>T (p.Thr188Ser)
n.75+965A>T
2g.223053240C>ACA351121486KCNE4c.410C>A (p.Thr137Asn)
c.563C>A (p.Thr188Asn)
n.75+966C>A
 gnomAD v4
2g.223053240C=CA1330889694KCNE4c.410C= (p.Thr137=)
c.563C= (p.Thr188=)
n.75+966C=
2g.223053240C>GCA351121488KCNE4c.410C>G (p.Thr137Ser)
c.563C>G (p.Thr188Ser)
n.75+966C>G
2g.223053240C>TCA351121487KCNE4c.410C>T (p.Thr137Ile)
c.563C>T (p.Thr188Ile)
n.75+966C>T
 dbSNP
2g.223053241C>ACA431595329KCNE4c.411C>A (p.Thr137=)
c.564C>A (p.Thr188=)
n.75+967C>A
2g.223053241C=CA1330889695KCNE4c.411C= (p.Thr137=)
c.564C= (p.Thr188=)
n.75+967C=
2g.223053241C>GCA431595330KCNE4c.411C>G (p.Thr137=)
c.564C>G (p.Thr188=)
n.75+967C>G
 gnomAD v4
2g.223053241C>TCA2137854KCNE4c.411C>T (p.Thr137=)
c.564C>T (p.Thr188=)
n.75+967C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053242A>CCA351121489KCNE4c.412A>C (p.Ile138Leu)
c.565A>C (p.Ile189Leu)
n.75+968A>C
2g.223053242A>GCA351121490KCNE4c.412A>G (p.Ile138Val)
c.565A>G (p.Ile189Val)
n.75+968A>G
 gnomAD v4
2g.223053242A>TCA351121491KCNE4c.412A>T (p.Ile138Phe)
c.565A>T (p.Ile189Phe)
n.75+968A>T
2g.223053243T>ACA351121492KCNE4c.413T>A (p.Ile138Asn)
c.566T>A (p.Ile189Asn)
n.75+969T>A
2g.223053243T>CCA351121493KCNE4c.413T>C (p.Ile138Thr)
c.566T>C (p.Ile189Thr)
n.75+969T>C
 COSMIC
2g.223053243T>GCA351121494KCNE4c.413T>G (p.Ile138Ser)
c.566T>G (p.Ile189Ser)
n.75+969T>G
2g.223053244T>ACA431595331KCNE4c.414T>A (p.Ile138=)
c.567T>A (p.Ile189=)
n.75+970T>A
2g.223053244T>CCA431595332KCNE4c.414T>C (p.Ile138=)
c.567T>C (p.Ile189=)
n.75+970T>C
2g.223053244T>GCA351121495KCNE4c.414T>G (p.Ile138Met)
c.567T>G (p.Ile189Met)
n.75+970T>G
2g.223053245C>ACA351121496KCNE4c.415C>A (p.Gln139Lys)
c.568C>A (p.Gln190Lys)
n.75+971C>A
2g.223053245C>GCA351121497KCNE4c.415C>G (p.Gln139Glu)
c.568C>G (p.Gln190Glu)
n.75+971C>G
2g.223053245C>TCA351121498KCNE4c.415C>T (p.Gln139Ter)
c.568C>T (p.Gln190Ter)
n.75+971C>T
2g.223053245_223053248delinsCAGGCA1330889696KCNE4c.415_418delinsCAGG (p.Gln139=)
c.568_571delinsCAGG (p.Gln190=)
n.75+971_75+974delinsCAGG
2g.223053246A>CCA351121501KCNE4c.416A>C (p.Gln139Pro)
c.569A>C (p.Gln190Pro)
n.75+972A>C
2g.223053246A>GCA351121499KCNE4c.416A>G (p.Gln139Arg)
c.569A>G (p.Gln190Arg)
n.75+972A>G
2g.223053246A>TCA351121500KCNE4c.416A>T (p.Gln139Leu)
c.569A>T (p.Gln190Leu)
n.75+972A>T
2g.223053252_223053254delCA539515960KCNE4c.422_424del (p.Glu141del)
c.575_577del (p.Glu192del)
n.75+978_75+980del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053247G>ACA431595335KCNE4c.417G>A (p.Gln139=)
c.570G>A (p.Gln190=)
n.75+973G>A
 gnomAD v4
2g.223053247G>CCA351121502KCNE4c.417G>C (p.Gln139His)
c.570G>C (p.Gln190His)
n.75+973G>C
2g.223053247G>TCA351121503KCNE4c.417G>T (p.Gln139His)
c.570G>T (p.Gln190His)
n.75+973G>T
 COSMIC
2g.223053248G>ACA351121504KCNE4c.418G>A (p.Glu140Lys)
c.571G>A (p.Glu191Lys)
n.75+974G>A
2g.223053248G>CCA351121505KCNE4c.418G>C (p.Glu140Gln)
c.571G>C (p.Glu191Gln)
n.75+974G>C
2g.223053248G>TCA351121506KCNE4c.418G>T (p.Glu140Ter)
c.571G>T (p.Glu191Ter)
n.75+974G>T
2g.223053249A>CCA351121507KCNE4c.419A>C (p.Glu140Ala)
c.572A>C (p.Glu191Ala)
n.75+975A>C
2g.223053249A>GCA351121508KCNE4c.419A>G (p.Glu140Gly)
c.572A>G (p.Glu191Gly)
n.75+975A>G
2g.223053249A>TCA351121509KCNE4c.419A>T (p.Glu140Val)
c.572A>T (p.Glu191Val)
n.75+975A>T
2g.223053250G>ACA2137855KCNE4c.420G>A (p.Glu140=)
c.573G>A (p.Glu191=)
n.75+976G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053250G>CCA351121510KCNE4c.420G>C (p.Glu140Asp)
c.573G>C (p.Glu191Asp)
n.75+976G>C
2g.223053250G=CA1330889697KCNE4c.420G= (p.Glu140=)
c.573G= (p.Glu191=)
n.75+976G=
2g.223053250G>TCA351121511KCNE4c.420G>T (p.Glu140Asp)
c.573G>T (p.Glu191Asp)
n.75+976G>T
2g.223053251G>ACA351121513KCNE4c.421G>A (p.Glu141Lys)
c.574G>A (p.Glu192Lys)
n.75+977G>A
2g.223053251G>CCA351121514KCNE4c.421G>C (p.Glu141Gln)
c.574G>C (p.Glu192Gln)
n.75+977G>C
2g.223053251G>TCA351121512KCNE4c.421G>T (p.Glu141Ter)
c.574G>T (p.Glu192Ter)
n.75+977G>T
2g.223053252A=CA1330889698KCNE4c.422A= (p.Glu141=)
c.575A= (p.Glu192=)
n.75+978A=
2g.223053252A>CCA2137856KCNE4c.422A>C (p.Glu141Ala)
c.575A>C (p.Glu192Ala)
n.75+978A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053252A>GCA351121515KCNE4c.422A>G (p.Glu141Gly)
c.575A>G (p.Glu192Gly)
n.75+978A>G
2g.223053252A>TCA351121516KCNE4c.422A>T (p.Glu141Val)
c.575A>T (p.Glu192Val)
n.75+978A>T
2g.223053253G>ACA431595336KCNE4c.423G>A (p.Glu141=)
c.576G>A (p.Glu192=)
n.75+979G>A
2g.223053253G>CCA351121517KCNE4c.423G>C (p.Glu141Asp)
c.576G>C (p.Glu192Asp)
n.75+979G>C
2g.223053253G>TCA351121518KCNE4c.423G>T (p.Glu141Asp)
c.576G>T (p.Glu192Asp)
n.75+979G>T
2g.223053256_223053257dupCA2663344329KCNE4c.426_427dup (p.Ala143GlyfsTer?)
c.579_580dup (p.Ala194GlyfsTer?)
n.75+982_75+983dup
 gnomAD v4
2g.223053254G>ACA351121519KCNE4c.424G>A (p.Gly142Arg)
c.577G>A (p.Gly193Arg)
n.75+980G>A
2g.223053254G>CCA2137857KCNE4c.424G>C (p.Gly142Arg)
c.577G>C (p.Gly193Arg)
n.75+980G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053254G=CA1330889699KCNE4c.424G= (p.Gly142=)
c.577G= (p.Gly193=)
n.75+980G=
2g.223053254G>TCA351121520KCNE4c.424G>T (p.Gly142Trp)
c.577G>T (p.Gly193Trp)
n.75+980G>T
2g.223053255G>ACA351121521KCNE4c.425G>A (p.Gly142Glu)
c.578G>A (p.Gly193Glu)
n.75+981G>A
2g.223053255G>CCA351121522KCNE4c.425G>C (p.Gly142Ala)
c.578G>C (p.Gly193Ala)
n.75+981G>C
2g.223053255G>TCA351121523KCNE4c.425G>T (p.Gly142Val)
c.578G>T (p.Gly193Val)
n.75+981G>T
2g.223053256G>ACA431595337KCNE4c.426G>A (p.Gly142=)
c.579G>A (p.Gly193=)
n.75+982G>A
 dbSNP gnomAD v4
2g.223053256G>CCA431595338KCNE4c.426G>C (p.Gly142=)
c.579G>C (p.Gly193=)
n.75+982G>C
2g.223053256G=CA1330889700KCNE4c.426G= (p.Gly142=)
c.579G= (p.Gly193=)
n.75+982G=
2g.223053256G>TCA431595339KCNE4c.426G>T (p.Gly142=)
c.579G>T (p.Gly193=)
n.75+982G>T
2g.223053257G>ACA351121526KCNE4c.427G>A (p.Ala143Thr)
c.580G>A (p.Ala194Thr)
n.75+983G>A
 dbSNP gnomAD v2 gnomAD v4
2g.223053257G>CCA351121525KCNE4c.427G>C (p.Ala143Pro)
c.580G>C (p.Ala194Pro)
n.75+983G>C
2g.223053257G=CA1330889701KCNE4c.427G= (p.Ala143=)
c.580G= (p.Ala194=)
n.75+983G=
2g.223053257G>TCA351121524KCNE4c.427G>T (p.Ala143Ser)
c.580G>T (p.Ala194Ser)
n.75+983G>T
 dbSNP
2g.223053258C>ACA351121527KCNE4c.428C>A (p.Ala143Glu)
c.581C>A (p.Ala194Glu)
n.75+984C>A
2g.223053258C=CA1330889702KCNE4c.428C= (p.Ala143=)
c.581C= (p.Ala194=)
n.75+984C=
2g.223053258C>GCA351121528KCNE4c.428C>G (p.Ala143Gly)
c.581C>G (p.Ala194Gly)
n.75+984C>G
2g.223053258C>TCA351121529KCNE4c.428C>T (p.Ala143Val)
c.581C>T (p.Ala194Val)
n.75+984C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053259A=CA1330889703KCNE4c.429A= (p.Ala143=)
c.582A= (p.Ala194=)
n.75+985A=
2g.223053259A>CCA431595340KCNE4c.429A>C (p.Ala143=)
c.582A>C (p.Ala194=)
n.75+985A>C
 dbSNP
2g.223053259A>GCA431595341KCNE4c.429A>G (p.Ala143=)
c.582A>G (p.Ala194=)
n.75+985A>G
2g.223053259A>TCA2137858KCNE4c.429A>T (p.Ala143=)
c.582A>T (p.Ala194=)
n.75+985A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053260G>ACA351121530KCNE4c.430G>A (p.Asp144Asn)
c.583G>A (p.Asp195Asn)
n.75+986G>A
2g.223053260G>CCA351121531KCNE4c.430G>C (p.Asp144His)
c.583G>C (p.Asp195His)
n.75+986G>C
2g.223053260G>TCA351121532KCNE4c.430G>T (p.Asp144Tyr)
c.583G>T (p.Asp195Tyr)
n.75+986G>T
2g.223053261A=CA1330889704KCNE4c.431A= (p.Asp144=)
c.584A= (p.Asp195=)
n.75+987A=
2g.223053261A>CCA351121533KCNE4c.431A>C (p.Asp144Ala)
c.584A>C (p.Asp195Ala)
n.75+987A>C
2g.223053261A>GCA351121534KCNE4c.431A>G (p.Asp144Gly)
c.584A>G (p.Asp195Gly)
n.75+987A>G
 dbSNP gnomAD v2 gnomAD v4
2g.223053261A>TCA351121535KCNE4c.431A>T (p.Asp144Val)
c.584A>T (p.Asp195Val)
n.75+987A>T
2g.223053262C>ACA351121536KCNE4c.432C>A (p.Asp144Glu)
c.585C>A (p.Asp195Glu)
n.75+988C>A
2g.223053262C=CA1330889706KCNE4c.432C= (p.Asp144=)
c.585C= (p.Asp195=)
n.75+988C=
2g.223053262C>GCA351121537KCNE4c.432C>G (p.Asp144Glu)
c.585C>G (p.Asp195Glu)
n.75+988C>G
 dbSNP gnomAD v2 gnomAD v4
2g.223053262C>TCA431595342KCNE4c.432C>T (p.Asp144=)
c.585C>T (p.Asp195=)
n.75+988C>T
 gnomAD v4
2g.223053262_223053265delinsCGATCA1330889705KCNE4c.432_435delinsCGAT (p.Asp144=)
c.585_588delinsCGAT (p.Asp195=)
n.75+988_75+991delinsCGAT
2g.223053263G>ACA351121539KCNE4c.433G>A (p.Asp145Asn)
c.586G>A (p.Asp196Asn)
n.75+989G>A
 dbSNP gnomAD v4
2g.223053263G>CCA351121540KCNE4c.433G>C (p.Asp145His)
c.586G>C (p.Asp196His)
n.75+989G>C
2g.223053263G=CA1330889707KCNE4c.433G= (p.Asp145=)
c.586G= (p.Asp196=)
n.75+989G=
2g.223053263G>TCA351121538KCNE4c.433G>T (p.Asp145Tyr)
c.586G>T (p.Asp196Tyr)
n.75+989G>T
 gnomAD v4
2g.223053265_223053267delCA2137859KCNE4c.435_437del (p.Asp145del)
c.588_590del (p.Asp196del)
n.75+991_75+993del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053264A>CCA351121541KCNE4c.434A>C (p.Asp145Ala)
c.587A>C (p.Asp196Ala)
n.75+990A>C
2g.223053264A>GCA351121542KCNE4c.434A>G (p.Asp145Gly)
c.587A>G (p.Asp196Gly)
n.75+990A>G
2g.223053264A>TCA351121543KCNE4c.434A>T (p.Asp145Val)
c.587A>T (p.Asp196Val)
n.75+990A>T
2g.223053265T>ACA351121544KCNE4c.435T>A (p.Asp145Glu)
c.588T>A (p.Asp196Glu)
n.75+991T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053265T>CCA431595344KCNE4c.435T>C (p.Asp145=)
c.588T>C (p.Asp196=)
n.75+991T>C
 dbSNP
2g.223053265T>GCA2137860KCNE4c.435T>G (p.Asp145Glu)
c.588T>G (p.Asp196Glu)
n.75+991T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053265T=CA1330889708KCNE4c.435T= (p.Asp145=)
c.588T= (p.Asp196=)
n.75+991T=

Number of alleles fetched