Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.223053262_223053265delinsCGATCA1330889705KCNE4c.432_435delinsCGAT (p.Asp144=)
c.585_588delinsCGAT (p.Asp195=)
n.75+988_75+991delinsCGAT
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.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=
2g.223053266G>ACA351121545KCNE4c.436G>A (p.Glu146Lys)
c.589G>A (p.Glu197Lys)
n.75+992G>A
 dbSNP gnomAD v2
2g.223053266G>CCA351121546KCNE4c.436G>C (p.Glu146Gln)
c.589G>C (p.Glu197Gln)
n.75+992G>C
2g.223053266G=CA1330889709KCNE4c.436G= (p.Glu146=)
c.589G= (p.Glu197=)
n.75+992G=
2g.223053266G>TCA351121547KCNE4c.436G>T (p.Glu146Ter)
c.589G>T (p.Glu197Ter)
n.75+992G>T
2g.223053267A>CCA351121548KCNE4c.437A>C (p.Glu146Ala)
c.590A>C (p.Glu197Ala)
n.75+993A>C
2g.223053267A>GCA351121549KCNE4c.437A>G (p.Glu146Gly)
c.590A>G (p.Glu197Gly)
n.75+993A>G
 gnomAD v4
2g.223053267A>TCA351121550KCNE4c.437A>T (p.Glu146Val)
c.590A>T (p.Glu197Val)
n.75+993A>T
2g.223053268G>ACA431595345KCNE4c.438G>A (p.Glu146=)
c.591G>A (p.Glu197=)
n.75+994G>A
2g.223053268G>CCA351121551KCNE4c.438G>C (p.Glu146Asp)
c.591G>C (p.Glu197Asp)
n.75+994G>C
2g.223053268G>TCA351121552KCNE4c.438G>T (p.Glu146Asp)
c.591G>T (p.Glu197Asp)
n.75+994G>T
2g.223053269C>ACA351121554KCNE4c.439C>A (p.Leu147Met)
c.592C>A (p.Leu198Met)
n.75+995C>A
 dbSNP
2g.223053269C=CA1330889710KCNE4c.439C= (p.Leu147=)
c.592C= (p.Leu198=)
n.75+995C=
2g.223053269C>GCA351121553KCNE4c.439C>G (p.Leu147Val)
c.592C>G (p.Leu198Val)
n.75+995C>G
2g.223053269C>TCA431595346KCNE4c.439C>T (p.Leu147=)
c.592C>T (p.Leu198=)
n.75+995C>T
2g.223053270T>ACA351121555KCNE4c.440T>A (p.Leu147Gln)
c.593T>A (p.Leu198Gln)
n.75+996T>A
2g.223053270T>CCA351121556KCNE4c.440T>C (p.Leu147Pro)
c.593T>C (p.Leu198Pro)
n.75+996T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053270T>GCA351121557KCNE4c.440T>G (p.Leu147Arg)
c.593T>G (p.Leu198Arg)
n.75+996T>G
2g.223053270T=CA1330889711KCNE4c.440T= (p.Leu147=)
c.593T= (p.Leu198=)
n.75+996T=
2g.223053271G>ACA2137861KCNE4c.441G>A (p.Leu147=)
c.594G>A (p.Leu198=)
n.75+997G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053271G>CCA431595348KCNE4c.441G>C (p.Leu147=)
c.594G>C (p.Leu198=)
n.75+997G>C
2g.223053271G=CA1330889712KCNE4c.441G= (p.Leu147=)
c.594G= (p.Leu198=)
n.75+997G=
2g.223053271G>TCA431595347KCNE4c.441G>T (p.Leu147=)
c.594G>T (p.Leu198=)
n.75+997G>T
2g.223053272G>ACA351121558KCNE4c.442G>A (p.Glu148Lys)
c.595G>A (p.Glu199Lys)
n.75+998G>A
2g.223053272G>CCA351121559KCNE4c.442G>C (p.Glu148Gln)
c.595G>C (p.Glu199Gln)
n.75+998G>C
2g.223053272G=CA1330889713KCNE4c.442G= (p.Glu148=)
c.595G= (p.Glu199=)
n.75+998G=
2g.223053272G>TCA66396450KCNE4c.442G>T (p.Glu148Ter)
c.595G>T (p.Glu199Ter)
n.75+998G>T
 dbSNP
2g.223053273A>CCA351121560KCNE4c.443A>C (p.Glu148Ala)
c.596A>C (p.Glu199Ala)
n.75+999A>C
2g.223053273A>GCA351121562KCNE4c.443A>G (p.Glu148Gly)
c.596A>G (p.Glu199Gly)
n.75+999A>G
2g.223053273A>TCA351121561KCNE4c.443A>T (p.Glu148Val)
c.596A>T (p.Glu199Val)
n.75+999A>T
 gnomAD v4
2g.223053274G>ACA431595349KCNE4c.444G>A (p.Glu148=)
c.597G>A (p.Glu199=)
n.75+1000G>A
2g.223053274G>CCA351121563KCNE4c.444G>C (p.Glu148Asp)
c.597G>C (p.Glu199Asp)
n.75+1000G>C
2g.223053274G>TCA351121564KCNE4c.444G>T (p.Glu148Asp)
c.597G>T (p.Glu199Asp)
n.75+1000G>T
2g.223053275G>ACA351121565KCNE4c.445G>A (p.Glu149Lys)
c.598G>A (p.Glu200Lys)
n.75+1001G>A
 COSMIC
2g.223053275G>CCA351121566KCNE4c.445G>C (p.Glu149Gln)
c.598G>C (p.Glu200Gln)
n.75+1001G>C
2g.223053275G>TCA351121567KCNE4c.445G>T (p.Glu149Ter)
c.598G>T (p.Glu200Ter)
n.75+1001G>T
2g.223053276A>CCA351121569KCNE4c.446A>C (p.Glu149Ala)
c.599A>C (p.Glu200Ala)
n.75+1002A>C
2g.223053276A>GCA351121570KCNE4c.446A>G (p.Glu149Gly)
c.599A>G (p.Glu200Gly)
n.75+1002A>G
2g.223053276A>TCA351121568KCNE4c.446A>T (p.Glu149Val)
c.599A>T (p.Glu200Val)
n.75+1002A>T
2g.223053277G>ACA431595350KCNE4c.447G>A (p.Glu149=)
c.600G>A (p.Glu200=)
n.75+1003G>A
 gnomAD v4 COSMIC
2g.223053277G>CCA351121572KCNE4c.447G>C (p.Glu149Asp)
c.600G>C (p.Glu200Asp)
n.75+1003G>C
2g.223053277G>TCA351121571KCNE4c.447G>T (p.Glu149Asp)
c.600G>T (p.Glu200Asp)
n.75+1003G>T
2g.223053278A>CCA351121573KCNE4c.448A>C (p.Thr150Pro)
c.601A>C (p.Thr201Pro)
n.75+1004A>C
2g.223053278A>GCA351121574KCNE4c.448A>G (p.Thr150Ala)
c.601A>G (p.Thr201Ala)
n.75+1004A>G
2g.223053278A>TCA351121575KCNE4c.448A>T (p.Thr150Ser)
c.601A>T (p.Thr201Ser)
n.75+1004A>T

Number of alleles fetched