Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.56859853_56859862delinsTCAGGTCGCACA1548129240MAP3K1c.772_781delinsTCAGGTCGCA (p.Ser258=)
c.394_403delinsTCAGGTCGCA (p.Ser132=)
c.517_526delinsTCAGGTCGCA (p.Ser173=)
c.361_370delinsTCAGGTCGCA (p.Ser121=)
c.283_292delinsTCAGGTCGCA (p.Ser95=)
n.803_812delinsTCAGGTCGCA
5g.56859857_56859865delCA1548129241MAP3K1c.776_784del (p.Gly259_Thr261del)
c.398_406del (p.Gly133_Thr135del)
c.521_529del (p.Gly174_Thr176del)
c.365_373del (p.Gly122_Thr124del)
c.287_295del (p.Gly96_Thr98del)
n.807_815del
 dbSNP
5g.56859857G>ACA359802601MAP3K1c.776G>A (p.Gly259Asp)
c.398G>A (p.Gly133Asp)
c.521G>A (p.Gly174Asp)
c.365G>A (p.Gly122Asp)
c.287G>A (p.Gly96Asp)
n.807G>A
 dbSNP gnomAD v3 gnomAD v4
5g.56859857G>CCA359802602MAP3K1c.776G>C (p.Gly259Ala)
c.398G>C (p.Gly133Ala)
c.521G>C (p.Gly174Ala)
c.365G>C (p.Gly122Ala)
c.287G>C (p.Gly96Ala)
n.807G>C
5g.56859857G=CA1548129242MAP3K1c.776G= (p.Gly259=)
c.398G= (p.Gly133=)
c.521G= (p.Gly174=)
c.365G= (p.Gly122=)
c.287G= (p.Gly96=)
n.807G=
5g.56859857G>TCA359802603MAP3K1c.776G>T (p.Gly259Val)
c.398G>T (p.Gly133Val)
c.521G>T (p.Gly174Val)
c.365G>T (p.Gly122Val)
c.287G>T (p.Gly96Val)
n.807G>T
 gnomAD v4
5g.56859858T>ACA444391740MAP3K1c.777T>A (p.Gly259=)
c.399T>A (p.Gly133=)
c.522T>A (p.Gly174=)
c.366T>A (p.Gly122=)
c.288T>A (p.Gly96=)
n.808T>A
5g.56859858T>CCA444391741MAP3K1c.777T>C (p.Gly259=)
c.399T>C (p.Gly133=)
c.522T>C (p.Gly174=)
c.366T>C (p.Gly122=)
c.288T>C (p.Gly96=)
n.808T>C
 gnomAD v4
5g.56859858T>GCA444391742MAP3K1c.777T>G (p.Gly259=)
c.399T>G (p.Gly133=)
c.522T>G (p.Gly174=)
c.366T>G (p.Gly122=)
c.288T>G (p.Gly96=)
n.808T>G
5g.56859858dupCA559802749MAP3K1c.777dup (p.Arg260SerfsTer?)
c.399dup (p.Arg134SerfsTer?)
c.522dup (p.Arg175SerfsTer?)
c.366dup (p.Arg123SerfsTer?)
c.288dup (p.Arg97SerfsTer?)
n.808dup
 dbSNP gnomAD v2
5g.56859859C>ACA359802604MAP3K1c.778C>A (p.Arg260Ser)
c.400C>A (p.Arg134Ser)
c.523C>A (p.Arg175Ser)
c.367C>A (p.Arg123Ser)
c.289C>A (p.Arg97Ser)
n.809C>A
5g.56859859C=CA1548129243MAP3K1c.778C= (p.Arg260=)
c.400C= (p.Arg134=)
c.523C= (p.Arg175=)
c.367C= (p.Arg123=)
c.289C= (p.Arg97=)
n.809C=
5g.56859859C>GCA359802605MAP3K1c.778C>G (p.Arg260Gly)
c.400C>G (p.Arg134Gly)
c.523C>G (p.Arg175Gly)
c.367C>G (p.Arg123Gly)
c.289C>G (p.Arg97Gly)
n.809C>G
5g.56859859C>TCA3272607MAP3K1c.778C>T (p.Arg260Cys)
c.400C>T (p.Arg134Cys)
c.523C>T (p.Arg175Cys)
c.367C>T (p.Arg123Cys)
c.289C>T (p.Arg97Cys)
n.809C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859860G>ACA3272608MAP3K1c.779G>A (p.Arg260His)
c.401G>A (p.Arg134His)
c.524G>A (p.Arg175His)
c.368G>A (p.Arg123His)
c.290G>A (p.Arg97His)
n.810G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859860G>CCA359802606MAP3K1c.779G>C (p.Arg260Pro)
c.401G>C (p.Arg134Pro)
c.524G>C (p.Arg175Pro)
c.368G>C (p.Arg123Pro)
c.290G>C (p.Arg97Pro)
n.810G>C
5g.56859860G=CA1548129244MAP3K1c.779G= (p.Arg260=)
c.401G= (p.Arg134=)
c.524G= (p.Arg175=)
c.368G= (p.Arg123=)
c.290G= (p.Arg97=)
n.810G=
5g.56859860G>TCA359802607MAP3K1c.779G>T (p.Arg260Leu)
c.401G>T (p.Arg134Leu)
c.524G>T (p.Arg175Leu)
c.368G>T (p.Arg123Leu)
c.290G>T (p.Arg97Leu)
n.810G>T
5g.56859861C>ACA444391743MAP3K1c.780C>A (p.Arg260=)
c.402C>A (p.Arg134=)
c.525C>A (p.Arg175=)
c.369C>A (p.Arg123=)
c.291C>A (p.Arg97=)
n.811C>A
5g.56859861C=CA1548129245MAP3K1c.780C= (p.Arg260=)
c.402C= (p.Arg134=)
c.525C= (p.Arg175=)
c.369C= (p.Arg123=)
c.291C= (p.Arg97=)
n.811C=
5g.56859861C>GCA444391744MAP3K1c.780C>G (p.Arg260=)
c.402C>G (p.Arg134=)
c.525C>G (p.Arg175=)
c.369C>G (p.Arg123=)
c.291C>G (p.Arg97=)
n.811C>G
5g.56859861C>TCA444391745MAP3K1c.780C>T (p.Arg260=)
c.402C>T (p.Arg134=)
c.525C>T (p.Arg175=)
c.369C>T (p.Arg123=)
c.291C>T (p.Arg97=)
n.811C>T
 dbSNP gnomAD v4
5g.56859862A=CA1548129246MAP3K1c.781A= (p.Thr261=)
c.403A= (p.Thr135=)
c.526A= (p.Thr176=)
c.370A= (p.Thr124=)
c.292A= (p.Thr98=)
n.812A=
5g.56859862A>CCA359802608MAP3K1c.781A>C (p.Thr261Pro)
c.403A>C (p.Thr135Pro)
c.526A>C (p.Thr176Pro)
c.370A>C (p.Thr124Pro)
c.292A>C (p.Thr98Pro)
n.812A>C
5g.56859862A>GCA359802609MAP3K1c.781A>G (p.Thr261Ala)
c.403A>G (p.Thr135Ala)
c.526A>G (p.Thr176Ala)
c.370A>G (p.Thr124Ala)
c.292A>G (p.Thr98Ala)
n.812A>G
5g.56859862A>TCA359802610MAP3K1c.781A>T (p.Thr261Ser)
c.403A>T (p.Thr135Ser)
c.526A>T (p.Thr176Ser)
c.370A>T (p.Thr124Ser)
c.292A>T (p.Thr98Ser)
n.812A>T
 dbSNP gnomAD v2 gnomAD v4
5g.56859863C>ACA359802613MAP3K1c.782C>A (p.Thr261Lys)
c.404C>A (p.Thr135Lys)
c.527C>A (p.Thr176Lys)
c.371C>A (p.Thr124Lys)
c.293C>A (p.Thr98Lys)
n.813C>A
5g.56859863C=CA1548129247MAP3K1c.782C= (p.Thr261=)
c.404C= (p.Thr135=)
c.527C= (p.Thr176=)
c.371C= (p.Thr124=)
c.293C= (p.Thr98=)
n.813C=
5g.56859863C>GCA359802611MAP3K1c.782C>G (p.Thr261Arg)
c.404C>G (p.Thr135Arg)
c.527C>G (p.Thr176Arg)
c.371C>G (p.Thr124Arg)
c.293C>G (p.Thr98Arg)
n.813C>G
 gnomAD v4
5g.56859863C>TCA359802612MAP3K1c.782C>T (p.Thr261Ile)
c.404C>T (p.Thr135Ile)
c.527C>T (p.Thr176Ile)
c.371C>T (p.Thr124Ile)
c.293C>T (p.Thr98Ile)
n.813C>T
 dbSNP
5g.56859864A=CA1548129248MAP3K1c.783A= (p.Thr261=)
c.405A= (p.Thr135=)
c.528A= (p.Thr176=)
c.372A= (p.Thr124=)
c.294A= (p.Thr98=)
n.814A=
5g.56859864A>CCA444391746MAP3K1c.783A>C (p.Thr261=)
c.405A>C (p.Thr135=)
c.528A>C (p.Thr176=)
c.372A>C (p.Thr124=)
c.294A>C (p.Thr98=)
n.814A>C
 dbSNP gnomAD v4
5g.56859864A>GCA3272609MAP3K1c.783A>G (p.Thr261=)
c.405A>G (p.Thr135=)
c.528A>G (p.Thr176=)
c.372A>G (p.Thr124=)
c.294A>G (p.Thr98=)
n.814A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859864A>TCA444391747MAP3K1c.783A>T (p.Thr261=)
c.405A>T (p.Thr135=)
c.528A>T (p.Thr176=)
c.372A>T (p.Thr124=)
c.294A>T (p.Thr98=)
n.814A>T
 dbSNP gnomAD v4
5g.56859865G>ACA359802614MAP3K1c.784G>A (p.Val262Met)
c.406G>A (p.Val136Met)
c.529G>A (p.Val177Met)
c.373G>A (p.Val125Met)
c.295G>A (p.Val99Met)
n.815G>A
 dbSNP
5g.56859865G>CCA359802615MAP3K1c.784G>C (p.Val262Leu)
c.406G>C (p.Val136Leu)
c.529G>C (p.Val177Leu)
c.373G>C (p.Val125Leu)
c.295G>C (p.Val99Leu)
n.815G>C
5g.56859865G>TCA359802616MAP3K1c.784G>T (p.Val262Leu)
c.406G>T (p.Val136Leu)
c.529G>T (p.Val177Leu)
c.373G>T (p.Val125Leu)
c.295G>T (p.Val99Leu)
n.815G>T
5g.56859866T>ACA359802617MAP3K1c.785T>A (p.Val262Glu)
c.407T>A (p.Val136Glu)
c.530T>A (p.Val177Glu)
c.374T>A (p.Val125Glu)
c.296T>A (p.Val99Glu)
n.816T>A
5g.56859866T>CCA359802618MAP3K1c.785T>C (p.Val262Ala)
c.407T>C (p.Val136Ala)
c.530T>C (p.Val177Ala)
c.374T>C (p.Val125Ala)
c.296T>C (p.Val99Ala)
n.816T>C
5g.56859866T>GCA359802619MAP3K1c.785T>G (p.Val262Gly)
c.407T>G (p.Val136Gly)
c.530T>G (p.Val177Gly)
c.374T>G (p.Val125Gly)
c.296T>G (p.Val99Gly)
n.816T>G
 COSMIC
5g.56859867G>ACA444391748MAP3K1c.786G>A (p.Val262=)
c.408G>A (p.Val136=)
c.531G>A (p.Val177=)
c.375G>A (p.Val125=)
c.297G>A (p.Val99=)
n.817G>A
 dbSNP
5g.56859867G>CCA444391749MAP3K1c.786G>C (p.Val262=)
c.408G>C (p.Val136=)
c.531G>C (p.Val177=)
c.375G>C (p.Val125=)
c.297G>C (p.Val99=)
n.817G>C
5g.56859867G=CA1548129249MAP3K1c.786G= (p.Val262=)
c.408G= (p.Val136=)
c.531G= (p.Val177=)
c.375G= (p.Val125=)
c.297G= (p.Val99=)
n.817G=
5g.56859867G>TCA444391750MAP3K1c.786G>T (p.Val262=)
c.408G>T (p.Val136=)
c.531G>T (p.Val177=)
c.375G>T (p.Val125=)
c.297G>T (p.Val99=)
n.817G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.56859868A>CCA359802622MAP3K1c.787A>C (p.Lys263Gln)
c.409A>C (p.Lys137Gln)
c.532A>C (p.Lys178Gln)
c.376A>C (p.Lys126Gln)
c.298A>C (p.Lys100Gln)
n.818A>C
5g.56859868A>GCA359802620MAP3K1c.787A>G (p.Lys263Glu)
c.409A>G (p.Lys137Glu)
c.532A>G (p.Lys178Glu)
c.376A>G (p.Lys126Glu)
c.298A>G (p.Lys100Glu)
n.818A>G
5g.56859868A>TCA359802621MAP3K1c.787A>T (p.Lys263Ter)
c.409A>T (p.Lys137Ter)
c.532A>T (p.Lys178Ter)
c.376A>T (p.Lys126Ter)
c.298A>T (p.Lys100Ter)
n.818A>T
5g.56859869A=CA1548129250MAP3K1c.788A= (p.Lys263=)
c.410A= (p.Lys137=)
c.533A= (p.Lys178=)
c.377A= (p.Lys126=)
c.299A= (p.Lys100=)
n.819A=
5g.56859869A>CCA359802623MAP3K1c.788A>C (p.Lys263Thr)
c.410A>C (p.Lys137Thr)
c.533A>C (p.Lys178Thr)
c.377A>C (p.Lys126Thr)
c.299A>C (p.Lys100Thr)
n.819A>C
5g.56859869A>GCA119520111MAP3K1c.788A>G (p.Lys263Arg)
c.410A>G (p.Lys137Arg)
c.533A>G (p.Lys178Arg)
c.377A>G (p.Lys126Arg)
c.299A>G (p.Lys100Arg)
n.819A>G
 dbSNP

Number of alleles fetched