Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.56859789C>ACA444391669MAP3K1c.708C>A (p.Val236=)
c.330C>A (p.Val110=)
c.453C>A (p.Val151=)
c.297C>A (p.Val99=)
c.219C>A (p.Val73=)
n.739C>A
 dbSNP gnomAD v2 gnomAD v4
5g.56859789C=CA1548129207MAP3K1c.708C= (p.Val236=)
c.330C= (p.Val110=)
c.453C= (p.Val151=)
c.297C= (p.Val99=)
c.219C= (p.Val73=)
n.739C=
5g.56859789C>GCA444391670MAP3K1c.708C>G (p.Val236=)
c.330C>G (p.Val110=)
c.453C>G (p.Val151=)
c.297C>G (p.Val99=)
c.219C>G (p.Val73=)
n.739C>G
 dbSNP gnomAD v2 gnomAD v4
5g.56859789C>TCA444391671MAP3K1c.708C>T (p.Val236=)
c.330C>T (p.Val110=)
c.453C>T (p.Val151=)
c.297C>T (p.Val99=)
c.219C>T (p.Val73=)
n.739C>T
 gnomAD v4
5g.56859790C>ACA359802470MAP3K1c.709C>A (p.Gln237Lys)
c.331C>A (p.Gln111Lys)
c.454C>A (p.Gln152Lys)
c.298C>A (p.Gln100Lys)
c.220C>A (p.Gln74Lys)
n.740C>A
5g.56859790C>GCA359802471MAP3K1c.709C>G (p.Gln237Glu)
c.331C>G (p.Gln111Glu)
c.454C>G (p.Gln152Glu)
c.298C>G (p.Gln100Glu)
c.220C>G (p.Gln74Glu)
n.740C>G
5g.56859790C>TCA359802472MAP3K1c.709C>T (p.Gln237Ter)
c.331C>T (p.Gln111Ter)
c.454C>T (p.Gln152Ter)
c.298C>T (p.Gln100Ter)
c.220C>T (p.Gln74Ter)
n.740C>T
 dbSNP gnomAD v4
5g.56859791A=CA1548129208MAP3K1c.710A= (p.Gln237=)
c.332A= (p.Gln111=)
c.455A= (p.Gln152=)
c.299A= (p.Gln100=)
c.221A= (p.Gln74=)
n.741A=
5g.56859791A>CCA359802474MAP3K1c.710A>C (p.Gln237Pro)
c.332A>C (p.Gln111Pro)
c.455A>C (p.Gln152Pro)
c.299A>C (p.Gln100Pro)
c.221A>C (p.Gln74Pro)
n.741A>C
5g.56859791A>GCA3272591MAP3K1c.710A>G (p.Gln237Arg)
c.332A>G (p.Gln111Arg)
c.455A>G (p.Gln152Arg)
c.299A>G (p.Gln100Arg)
c.221A>G (p.Gln74Arg)
n.741A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859791A>TCA359802473MAP3K1c.710A>T (p.Gln237Leu)
c.332A>T (p.Gln111Leu)
c.455A>T (p.Gln152Leu)
c.299A>T (p.Gln100Leu)
c.221A>T (p.Gln74Leu)
n.741A>T
 dbSNP
5g.56859792G>ACA119520085MAP3K1c.711G>A (p.Gln237=)
c.333G>A (p.Gln111=)
c.456G>A (p.Gln152=)
c.300G>A (p.Gln100=)
c.222G>A (p.Gln74=)
n.742G>A
 dbSNP gnomAD v3 gnomAD v4
5g.56859792G>CCA359802476MAP3K1c.711G>C (p.Gln237His)
c.333G>C (p.Gln111His)
c.456G>C (p.Gln152His)
c.300G>C (p.Gln100His)
c.222G>C (p.Gln74His)
n.742G>C
5g.56859792G=CA1548129209MAP3K1c.711G= (p.Gln237=)
c.333G= (p.Gln111=)
c.456G= (p.Gln152=)
c.300G= (p.Gln100=)
c.222G= (p.Gln74=)
n.742G=
5g.56859792G>TCA359802475MAP3K1c.711G>T (p.Gln237His)
c.333G>T (p.Gln111His)
c.456G>T (p.Gln152His)
c.300G>T (p.Gln100His)
c.222G>T (p.Gln74His)
n.742G>T
5g.56859793G>ACA359802479MAP3K1c.712G>A (p.Ala238Thr)
c.334G>A (p.Ala112Thr)
c.457G>A (p.Ala153Thr)
c.301G>A (p.Ala101Thr)
c.223G>A (p.Ala75Thr)
n.743G>A
 dbSNP
5g.56859793G>CCA359802477MAP3K1c.712G>C (p.Ala238Pro)
c.334G>C (p.Ala112Pro)
c.457G>C (p.Ala153Pro)
c.301G>C (p.Ala101Pro)
c.223G>C (p.Ala75Pro)
n.743G>C
5g.56859793G>TCA359802478MAP3K1c.712G>T (p.Ala238Ser)
c.334G>T (p.Ala112Ser)
c.457G>T (p.Ala153Ser)
c.301G>T (p.Ala101Ser)
c.223G>T (p.Ala75Ser)
n.743G>T
5g.56859794C>ACA359802480MAP3K1c.713C>A (p.Ala238Glu)
c.335C>A (p.Ala112Glu)
c.458C>A (p.Ala153Glu)
c.302C>A (p.Ala101Glu)
c.224C>A (p.Ala75Glu)
n.744C>A
 dbSNP gnomAD v3 gnomAD v4
5g.56859794C=CA1548129210MAP3K1c.713C= (p.Ala238=)
c.335C= (p.Ala112=)
c.458C= (p.Ala153=)
c.302C= (p.Ala101=)
c.224C= (p.Ala75=)
n.744C=
5g.56859794C>GCA359802481MAP3K1c.713C>G (p.Ala238Gly)
c.335C>G (p.Ala112Gly)
c.458C>G (p.Ala153Gly)
c.302C>G (p.Ala101Gly)
c.224C>G (p.Ala75Gly)
n.744C>G
5g.56859794C>TCA359802482MAP3K1c.713C>T (p.Ala238Val)
c.335C>T (p.Ala112Val)
c.458C>T (p.Ala153Val)
c.302C>T (p.Ala101Val)
c.224C>T (p.Ala75Val)
n.744C>T
 dbSNP
5g.56859795A>CCA444391674MAP3K1c.714A>C (p.Ala238=)
c.336A>C (p.Ala112=)
c.459A>C (p.Ala153=)
c.303A>C (p.Ala101=)
c.225A>C (p.Ala75=)
n.745A>C
5g.56859795A>GCA444391675MAP3K1c.714A>G (p.Ala238=)
c.336A>G (p.Ala112=)
c.459A>G (p.Ala153=)
c.303A>G (p.Ala101=)
c.225A>G (p.Ala75=)
n.745A>G
5g.56859795A>TCA444391676MAP3K1c.714A>T (p.Ala238=)
c.336A>T (p.Ala112=)
c.459A>T (p.Ala153=)
c.303A>T (p.Ala101=)
c.225A>T (p.Ala75=)
n.745A>T
5g.56859796A>CCA359802485MAP3K1c.715A>C (p.Ser239Arg)
c.337A>C (p.Ser113Arg)
c.460A>C (p.Ser154Arg)
c.304A>C (p.Ser102Arg)
c.226A>C (p.Ser76Arg)
n.746A>C
5g.56859796A>GCA359802484MAP3K1c.715A>G (p.Ser239Gly)
c.337A>G (p.Ser113Gly)
c.460A>G (p.Ser154Gly)
c.304A>G (p.Ser102Gly)
c.226A>G (p.Ser76Gly)
n.746A>G
5g.56859796A>TCA359802483MAP3K1c.715A>T (p.Ser239Cys)
c.337A>T (p.Ser113Cys)
c.460A>T (p.Ser154Cys)
c.304A>T (p.Ser102Cys)
c.226A>T (p.Ser76Cys)
n.746A>T
5g.56859797G>ACA3272592MAP3K1c.716G>A (p.Ser239Asn)
c.338G>A (p.Ser113Asn)
c.461G>A (p.Ser154Asn)
c.305G>A (p.Ser102Asn)
c.227G>A (p.Ser76Asn)
n.747G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859797G>CCA359802486MAP3K1c.716G>C (p.Ser239Thr)
c.338G>C (p.Ser113Thr)
c.461G>C (p.Ser154Thr)
c.305G>C (p.Ser102Thr)
c.227G>C (p.Ser76Thr)
n.747G>C
5g.56859797G=CA1548129211MAP3K1c.716G= (p.Ser239=)
c.338G= (p.Ser113=)
c.461G= (p.Ser154=)
c.305G= (p.Ser102=)
c.227G= (p.Ser76=)
n.747G=
5g.56859797G>TCA119520088MAP3K1c.716G>T (p.Ser239Ile)
c.338G>T (p.Ser113Ile)
c.461G>T (p.Ser154Ile)
c.305G>T (p.Ser102Ile)
c.227G>T (p.Ser76Ile)
n.747G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859798T>ACA359802487MAP3K1c.717T>A (p.Ser239Arg)
c.339T>A (p.Ser113Arg)
c.462T>A (p.Ser154Arg)
c.306T>A (p.Ser102Arg)
c.228T>A (p.Ser76Arg)
n.748T>A
5g.56859798T>CCA3272593MAP3K1c.717T>C (p.Ser239=)
c.339T>C (p.Ser113=)
c.462T>C (p.Ser154=)
c.306T>C (p.Ser102=)
c.228T>C (p.Ser76=)
n.748T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859798T>GCA3272594MAP3K1c.717T>G (p.Ser239Arg)
c.339T>G (p.Ser113Arg)
c.462T>G (p.Ser154Arg)
c.306T>G (p.Ser102Arg)
c.228T>G (p.Ser76Arg)
n.748T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859798T=CA1548129212MAP3K1c.717T= (p.Ser239=)
c.339T= (p.Ser113=)
c.462T= (p.Ser154=)
c.306T= (p.Ser102=)
c.228T= (p.Ser76=)
n.748T=
5g.56859799G>ACA359802488MAP3K1c.718G>A (p.Ala240Thr)
c.340G>A (p.Ala114Thr)
c.463G>A (p.Ala155Thr)
c.307G>A (p.Ala103Thr)
c.229G>A (p.Ala77Thr)
n.749G>A
 gnomAD v4
5g.56859799G>CCA359802490MAP3K1c.718G>C (p.Ala240Pro)
c.340G>C (p.Ala114Pro)
c.463G>C (p.Ala155Pro)
c.307G>C (p.Ala103Pro)
c.229G>C (p.Ala77Pro)
n.749G>C
5g.56859799G>TCA359802489MAP3K1c.718G>T (p.Ala240Ser)
c.340G>T (p.Ala114Ser)
c.463G>T (p.Ala155Ser)
c.307G>T (p.Ala103Ser)
c.229G>T (p.Ala77Ser)
n.749G>T
5g.56859800C>ACA359802491MAP3K1c.719C>A (p.Ala240Glu)
c.341C>A (p.Ala114Glu)
c.464C>A (p.Ala155Glu)
c.308C>A (p.Ala103Glu)
c.230C>A (p.Ala77Glu)
n.750C>A
 dbSNP gnomAD v2 gnomAD v4
5g.56859800C=CA1548129213MAP3K1c.719C= (p.Ala240=)
c.341C= (p.Ala114=)
c.464C= (p.Ala155=)
c.308C= (p.Ala103=)
c.230C= (p.Ala77=)
n.750C=
5g.56859800C>GCA359802492MAP3K1c.719C>G (p.Ala240Gly)
c.341C>G (p.Ala114Gly)
c.464C>G (p.Ala155Gly)
c.308C>G (p.Ala103Gly)
c.230C>G (p.Ala77Gly)
n.750C>G
 dbSNP gnomAD v3 gnomAD v4
5g.56859800C>TCA3272595MAP3K1c.719C>T (p.Ala240Val)
c.341C>T (p.Ala114Val)
c.464C>T (p.Ala155Val)
c.308C>T (p.Ala103Val)
c.230C>T (p.Ala77Val)
n.750C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859801G>ACA3272596MAP3K1c.720G>A (p.Ala240=)
c.342G>A (p.Ala114=)
c.465G>A (p.Ala155=)
c.309G>A (p.Ala103=)
c.231G>A (p.Ala77=)
n.751G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859801G>CCA444391680MAP3K1c.720G>C (p.Ala240=)
c.342G>C (p.Ala114=)
c.465G>C (p.Ala155=)
c.309G>C (p.Ala103=)
c.231G>C (p.Ala77=)
n.751G>C
5g.56859801G=CA1548129214MAP3K1c.720G= (p.Ala240=)
c.342G= (p.Ala114=)
c.465G= (p.Ala155=)
c.309G= (p.Ala103=)
c.231G= (p.Ala77=)
n.751G=
5g.56859801G>TCA444391681MAP3K1c.720G>T (p.Ala240=)
c.342G>T (p.Ala114=)
c.465G>T (p.Ala155=)
c.309G>T (p.Ala103=)
c.231G>T (p.Ala77=)
n.751G>T
5g.56859801delinsTTCA645563846MAP3K1c.720delinsTT (p.Ala241CysfsTer?)
c.342delinsTT (p.Ala115CysfsTer?)
c.465delinsTT (p.Ala156CysfsTer?)
c.309delinsTT (p.Ala104CysfsTer?)
c.231delinsTT (p.Ala78CysfsTer?)
n.751delinsTT
 COSMIC
5g.56859802G>ACA119520093MAP3K1c.721G>A (p.Ala241Thr)
c.343G>A (p.Ala115Thr)
c.466G>A (p.Ala156Thr)
c.310G>A (p.Ala104Thr)
c.232G>A (p.Ala78Thr)
n.752G>A
 dbSNP gnomAD v3 gnomAD v4
5g.56859802G>CCA359802493MAP3K1c.721G>C (p.Ala241Pro)
c.343G>C (p.Ala115Pro)
c.466G>C (p.Ala156Pro)
c.310G>C (p.Ala104Pro)
c.232G>C (p.Ala78Pro)
n.752G>C
5g.56859802G=CA1548129215MAP3K1c.721G= (p.Ala241=)
c.343G= (p.Ala115=)
c.466G= (p.Ala156=)
c.310G= (p.Ala104=)
c.232G= (p.Ala78=)
n.752G=
5g.56859802G>TCA359802494MAP3K1c.721G>T (p.Ala241Ser)
c.343G>T (p.Ala115Ser)
c.466G>T (p.Ala156Ser)
c.310G>T (p.Ala104Ser)
c.232G>T (p.Ala78Ser)
n.752G>T
5g.56859803C>ACA359802495MAP3K1c.722C>A (p.Ala241Asp)
c.344C>A (p.Ala115Asp)
c.467C>A (p.Ala156Asp)
c.311C>A (p.Ala104Asp)
c.233C>A (p.Ala78Asp)
n.753C>A
5g.56859803C>GCA359802496MAP3K1c.722C>G (p.Ala241Gly)
c.344C>G (p.Ala115Gly)
c.467C>G (p.Ala156Gly)
c.311C>G (p.Ala104Gly)
c.233C>G (p.Ala78Gly)
n.753C>G
 gnomAD v4
5g.56859803C>TCA359802497MAP3K1c.722C>T (p.Ala241Val)
c.344C>T (p.Ala115Val)
c.467C>T (p.Ala156Val)
c.311C>T (p.Ala104Val)
c.233C>T (p.Ala78Val)
n.753C>T
5g.56859804T>ACA444391682MAP3K1c.723T>A (p.Ala241=)
c.345T>A (p.Ala115=)
c.468T>A (p.Ala156=)
c.312T>A (p.Ala104=)
c.234T>A (p.Ala78=)
n.754T>A
5g.56859804T>CCA444391684MAP3K1c.723T>C (p.Ala241=)
c.345T>C (p.Ala115=)
c.468T>C (p.Ala156=)
c.312T>C (p.Ala104=)
c.234T>C (p.Ala78=)
n.754T>C
 dbSNP
5g.56859804T>GCA444391685MAP3K1c.723T>G (p.Ala241=)
c.345T>G (p.Ala115=)
c.468T>G (p.Ala156=)
c.312T>G (p.Ala104=)
c.234T>G (p.Ala78=)
n.754T>G
5g.56859804T=CA1548129216MAP3K1c.723T= (p.Ala241=)
c.345T= (p.Ala115=)
c.468T= (p.Ala156=)
c.312T= (p.Ala104=)
c.234T= (p.Ala78=)
n.754T=
5g.56859805T>ACA359802500MAP3K1c.724T>A (p.Ser242Thr)
c.346T>A (p.Ser116Thr)
c.469T>A (p.Ser157Thr)
c.313T>A (p.Ser105Thr)
c.235T>A (p.Ser79Thr)
n.755T>A
5g.56859805T>CCA359802499MAP3K1c.724T>C (p.Ser242Pro)
c.346T>C (p.Ser116Pro)
c.469T>C (p.Ser157Pro)
c.313T>C (p.Ser105Pro)
c.235T>C (p.Ser79Pro)
n.755T>C
5g.56859805T>GCA359802498MAP3K1c.724T>G (p.Ser242Ala)
c.346T>G (p.Ser116Ala)
c.469T>G (p.Ser157Ala)
c.313T>G (p.Ser105Ala)
c.235T>G (p.Ser79Ala)
n.755T>G
5g.56859806C>ACA359802501MAP3K1c.725C>A (p.Ser242Ter)
c.347C>A (p.Ser116Ter)
c.470C>A (p.Ser157Ter)
c.314C>A (p.Ser105Ter)
c.236C>A (p.Ser79Ter)
n.756C>A
5g.56859806C>GCA359802502MAP3K1c.725C>G (p.Ser242Ter)
c.347C>G (p.Ser116Ter)
c.470C>G (p.Ser157Ter)
c.314C>G (p.Ser105Ter)
c.236C>G (p.Ser79Ter)
n.756C>G
 dbSNP
5g.56859806C>TCA359802503MAP3K1c.725C>T (p.Ser242Leu)
c.347C>T (p.Ser116Leu)
c.470C>T (p.Ser157Leu)
c.314C>T (p.Ser105Leu)
c.236C>T (p.Ser79Leu)
n.756C>T
 dbSNP
5g.56859807A>CCA444391686MAP3K1c.726A>C (p.Ser242=)
c.348A>C (p.Ser116=)
c.471A>C (p.Ser157=)
c.315A>C (p.Ser105=)
c.237A>C (p.Ser79=)
n.757A>C
5g.56859807A>GCA444391687MAP3K1c.726A>G (p.Ser242=)
c.348A>G (p.Ser116=)
c.471A>G (p.Ser157=)
c.315A>G (p.Ser105=)
c.237A>G (p.Ser79=)
n.757A>G
5g.56859807A>TCA444391688MAP3K1c.726A>T (p.Ser242=)
c.348A>T (p.Ser116=)
c.471A>T (p.Ser157=)
c.315A>T (p.Ser105=)
c.237A>T (p.Ser79=)
n.757A>T
5g.56859808C>ACA359802504MAP3K1c.727C>A (p.Pro243Thr)
c.349C>A (p.Pro117Thr)
c.472C>A (p.Pro158Thr)
c.316C>A (p.Pro106Thr)
c.238C>A (p.Pro80Thr)
n.758C>A
5g.56859808C>GCA359802505MAP3K1c.727C>G (p.Pro243Ala)
c.349C>G (p.Pro117Ala)
c.472C>G (p.Pro158Ala)
c.316C>G (p.Pro106Ala)
c.238C>G (p.Pro80Ala)
n.758C>G
 gnomAD v4
5g.56859808C>TCA359802506MAP3K1c.727C>T (p.Pro243Ser)
c.349C>T (p.Pro117Ser)
c.472C>T (p.Pro158Ser)
c.316C>T (p.Pro106Ser)
c.238C>T (p.Pro80Ser)
n.758C>T
5g.56859809C>ACA359802507MAP3K1c.728C>A (p.Pro243Gln)
c.350C>A (p.Pro117Gln)
c.473C>A (p.Pro158Gln)
c.317C>A (p.Pro106Gln)
c.239C>A (p.Pro80Gln)
n.759C>A
5g.56859809C=CA1548129217MAP3K1c.728C= (p.Pro243=)
c.350C= (p.Pro117=)
c.473C= (p.Pro158=)
c.317C= (p.Pro106=)
c.239C= (p.Pro80=)
n.759C=
5g.56859809C>GCA359802508MAP3K1c.728C>G (p.Pro243Arg)
c.350C>G (p.Pro117Arg)
c.473C>G (p.Pro158Arg)
c.317C>G (p.Pro106Arg)
c.239C>G (p.Pro80Arg)
n.759C>G
 dbSNP gnomAD v3 gnomAD v4
5g.56859809C>TCA359802509MAP3K1c.728C>T (p.Pro243Leu)
c.350C>T (p.Pro117Leu)
c.473C>T (p.Pro158Leu)
c.317C>T (p.Pro106Leu)
c.239C>T (p.Pro80Leu)
n.759C>T
5g.56859810A>CCA444391690MAP3K1c.729A>C (p.Pro243=)
c.351A>C (p.Pro117=)
c.474A>C (p.Pro158=)
c.318A>C (p.Pro106=)
c.240A>C (p.Pro80=)
n.760A>C
5g.56859810A>GCA444391692MAP3K1c.729A>G (p.Pro243=)
c.351A>G (p.Pro117=)
c.474A>G (p.Pro158=)
c.318A>G (p.Pro106=)
c.240A>G (p.Pro80=)
n.760A>G
5g.56859810A>TCA444391691MAP3K1c.729A>T (p.Pro243=)
c.351A>T (p.Pro117=)
c.474A>T (p.Pro158=)
c.318A>T (p.Pro106=)
c.240A>T (p.Pro80=)
n.760A>T
5g.56859811G>ACA359802510MAP3K1c.730G>A (p.Ala244Thr)
c.352G>A (p.Ala118Thr)
c.475G>A (p.Ala159Thr)
c.319G>A (p.Ala107Thr)
c.241G>A (p.Ala81Thr)
n.761G>A
 dbSNP
5g.56859811G>CCA359802511MAP3K1c.730G>C (p.Ala244Pro)
c.352G>C (p.Ala118Pro)
c.475G>C (p.Ala159Pro)
c.319G>C (p.Ala107Pro)
c.241G>C (p.Ala81Pro)
n.761G>C
 gnomAD v4
5g.56859811G>TCA359802512MAP3K1c.730G>T (p.Ala244Ser)
c.352G>T (p.Ala118Ser)
c.475G>T (p.Ala159Ser)
c.319G>T (p.Ala107Ser)
c.241G>T (p.Ala81Ser)
n.761G>T
5g.56859812C>ACA359802515MAP3K1c.731C>A (p.Ala244Asp)
c.353C>A (p.Ala118Asp)
c.476C>A (p.Ala159Asp)
c.320C>A (p.Ala107Asp)
c.242C>A (p.Ala81Asp)
n.762C>A
 dbSNP
5g.56859812C>GCA359802514MAP3K1c.731C>G (p.Ala244Gly)
c.353C>G (p.Ala118Gly)
c.476C>G (p.Ala159Gly)
c.320C>G (p.Ala107Gly)
c.242C>G (p.Ala81Gly)
n.762C>G
5g.56859812C>TCA359802513MAP3K1c.731C>T (p.Ala244Val)
c.353C>T (p.Ala118Val)
c.476C>T (p.Ala159Val)
c.320C>T (p.Ala107Val)
c.242C>T (p.Ala81Val)
n.762C>T
 dbSNP
5g.56859813T>ACA444391696MAP3K1c.732T>A (p.Ala244=)
c.354T>A (p.Ala118=)
c.477T>A (p.Ala159=)
c.321T>A (p.Ala107=)
c.243T>A (p.Ala81=)
n.763T>A
5g.56859813T>CCA444391697MAP3K1c.732T>C (p.Ala244=)
c.354T>C (p.Ala118=)
c.477T>C (p.Ala159=)
c.321T>C (p.Ala107=)
c.243T>C (p.Ala81=)
n.763T>C
5g.56859813T>GCA444391698MAP3K1c.732T>G (p.Ala244=)
c.354T>G (p.Ala118=)
c.477T>G (p.Ala159=)
c.321T>G (p.Ala107=)
c.243T>G (p.Ala81=)
n.763T>G
5g.56859814T>ACA359802516MAP3K1c.733T>A (p.Ser245Thr)
c.355T>A (p.Ser119Thr)
c.478T>A (p.Ser160Thr)
c.322T>A (p.Ser108Thr)
c.244T>A (p.Ser82Thr)
n.764T>A
5g.56859814T>CCA359802517MAP3K1c.733T>C (p.Ser245Pro)
c.355T>C (p.Ser119Pro)
c.478T>C (p.Ser160Pro)
c.322T>C (p.Ser108Pro)
c.244T>C (p.Ser82Pro)
n.764T>C
5g.56859814T>GCA359802518MAP3K1c.733T>G (p.Ser245Ala)
c.355T>G (p.Ser119Ala)
c.478T>G (p.Ser160Ala)
c.322T>G (p.Ser108Ala)
c.244T>G (p.Ser82Ala)
n.764T>G
5g.56859815C>ACA359802519MAP3K1c.734C>A (p.Ser245Tyr)
c.356C>A (p.Ser119Tyr)
c.479C>A (p.Ser160Tyr)
c.323C>A (p.Ser108Tyr)
c.245C>A (p.Ser82Tyr)
n.765C>A
 dbSNP
5g.56859815C=CA1548129218MAP3K1c.734C= (p.Ser245=)
c.356C= (p.Ser119=)
c.479C= (p.Ser160=)
c.323C= (p.Ser108=)
c.245C= (p.Ser82=)
n.765C=
5g.56859815C>GCA359802520MAP3K1c.734C>G (p.Ser245Cys)
c.356C>G (p.Ser119Cys)
c.479C>G (p.Ser160Cys)
c.323C>G (p.Ser108Cys)
c.245C>G (p.Ser82Cys)
n.765C>G
 gnomAD v4
5g.56859815C>TCA3272597MAP3K1c.734C>T (p.Ser245Phe)
c.356C>T (p.Ser119Phe)
c.479C>T (p.Ser160Phe)
c.323C>T (p.Ser108Phe)
c.245C>T (p.Ser82Phe)
n.765C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859816C>ACA444391700MAP3K1c.735C>A (p.Ser245=)
c.357C>A (p.Ser119=)
c.480C>A (p.Ser160=)
c.324C>A (p.Ser108=)
c.246C>A (p.Ser82=)
n.766C>A
5g.56859816C=CA1548129219MAP3K1c.735C= (p.Ser245=)
c.357C= (p.Ser119=)
c.480C= (p.Ser160=)
c.324C= (p.Ser108=)
c.246C= (p.Ser82=)
n.766C=
5g.56859816C>GCA3272598MAP3K1c.735C>G (p.Ser245=)
c.357C>G (p.Ser119=)
c.480C>G (p.Ser160=)
c.324C>G (p.Ser108=)
c.246C>G (p.Ser82=)
n.766C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859816C>TCA444391701MAP3K1c.735C>T (p.Ser245=)
c.357C>T (p.Ser119=)
c.480C>T (p.Ser160=)
c.324C>T (p.Ser108=)
c.246C>T (p.Ser82=)
n.766C>T
 dbSNP gnomAD v2 gnomAD v4
5g.56859817A=CA1548129220MAP3K1c.736A= (p.Lys246=)
c.358A= (p.Lys120=)
c.481A= (p.Lys161=)
c.325A= (p.Lys109=)
c.247A= (p.Lys83=)
n.767A=
5g.56859817A>CCA359802521MAP3K1c.736A>C (p.Lys246Gln)
c.358A>C (p.Lys120Gln)
c.481A>C (p.Lys161Gln)
c.325A>C (p.Lys109Gln)
c.247A>C (p.Lys83Gln)
n.767A>C
 dbSNP
5g.56859817A>GCA359802522MAP3K1c.736A>G (p.Lys246Glu)
c.358A>G (p.Lys120Glu)
c.481A>G (p.Lys161Glu)
c.325A>G (p.Lys109Glu)
c.247A>G (p.Lys83Glu)
n.767A>G
 dbSNP gnomAD v3 gnomAD v4
5g.56859817A>TCA359802523MAP3K1c.736A>T (p.Lys246Ter)
c.358A>T (p.Lys120Ter)
c.481A>T (p.Lys161Ter)
c.325A>T (p.Lys109Ter)
c.247A>T (p.Lys83Ter)
n.767A>T
5g.56859818A>CCA359802524MAP3K1c.737A>C (p.Lys246Thr)
c.359A>C (p.Lys120Thr)
c.482A>C (p.Lys161Thr)
c.326A>C (p.Lys109Thr)
c.248A>C (p.Lys83Thr)
n.768A>C
5g.56859818A>GCA359802525MAP3K1c.737A>G (p.Lys246Arg)
c.359A>G (p.Lys120Arg)
c.482A>G (p.Lys161Arg)
c.326A>G (p.Lys109Arg)
c.248A>G (p.Lys83Arg)
n.768A>G
5g.56859818A>TCA359802526MAP3K1c.737A>T (p.Lys246Ile)
c.359A>T (p.Lys120Ile)
c.482A>T (p.Lys161Ile)
c.326A>T (p.Lys109Ile)
c.248A>T (p.Lys83Ile)
n.768A>T
5g.56859819A=CA1548129221MAP3K1c.738A= (p.Lys246=)
c.360A= (p.Lys120=)
c.483A= (p.Lys161=)
c.327A= (p.Lys109=)
c.249A= (p.Lys83=)
n.769A=
5g.56859819A>CCA359802528MAP3K1c.738A>C (p.Lys246Asn)
c.360A>C (p.Lys120Asn)
c.483A>C (p.Lys161Asn)
c.327A>C (p.Lys109Asn)
c.249A>C (p.Lys83Asn)
n.769A>C
5g.56859819A>GCA444391703MAP3K1c.738A>G (p.Lys246=)
c.360A>G (p.Lys120=)
c.483A>G (p.Lys161=)
c.327A>G (p.Lys109=)
c.249A>G (p.Lys83=)
n.769A>G
 dbSNP gnomAD v3 gnomAD v4
5g.56859819A>TCA359802527MAP3K1c.738A>T (p.Lys246Asn)
c.360A>T (p.Lys120Asn)
c.483A>T (p.Lys161Asn)
c.327A>T (p.Lys109Asn)
c.249A>T (p.Lys83Asn)
n.769A>T
5g.56859820G>ACA359802529MAP3K1c.739G>A (p.Gly247Ser)
c.361G>A (p.Gly121Ser)
c.484G>A (p.Gly162Ser)
c.328G>A (p.Gly110Ser)
c.250G>A (p.Gly84Ser)
n.770G>A
 ClinVar gnomAD v4
5g.56859820G>CCA359802530MAP3K1c.739G>C (p.Gly247Arg)
c.361G>C (p.Gly121Arg)
c.484G>C (p.Gly162Arg)
c.328G>C (p.Gly110Arg)
c.250G>C (p.Gly84Arg)
n.770G>C
5g.56859820G>TCA359802531MAP3K1c.739G>T (p.Gly247Cys)
c.361G>T (p.Gly121Cys)
c.484G>T (p.Gly162Cys)
c.328G>T (p.Gly110Cys)
c.250G>T (p.Gly84Cys)
n.770G>T
5g.56859821G>ACA359802532MAP3K1c.740G>A (p.Gly247Asp)
c.362G>A (p.Gly121Asp)
c.485G>A (p.Gly162Asp)
c.329G>A (p.Gly110Asp)
c.251G>A (p.Gly84Asp)
n.771G>A
 dbSNP
5g.56859821G>CCA359802533MAP3K1c.740G>C (p.Gly247Ala)
c.362G>C (p.Gly121Ala)
c.485G>C (p.Gly162Ala)
c.329G>C (p.Gly110Ala)
c.251G>C (p.Gly84Ala)
n.771G>C
 dbSNP
5g.56859821G>TCA359802534MAP3K1c.740G>T (p.Gly247Val)
c.362G>T (p.Gly121Val)
c.485G>T (p.Gly162Val)
c.329G>T (p.Gly110Val)
c.251G>T (p.Gly84Val)
n.771G>T
5g.56859822C>ACA444391707MAP3K1c.741C>A (p.Gly247=)
c.363C>A (p.Gly121=)
c.486C>A (p.Gly162=)
c.330C>A (p.Gly110=)
c.252C>A (p.Gly84=)
n.772C>A
5g.56859822C=CA1548129222MAP3K1c.741C= (p.Gly247=)
c.363C= (p.Gly121=)
c.486C= (p.Gly162=)
c.330C= (p.Gly110=)
c.252C= (p.Gly84=)
n.772C=
5g.56859822C>GCA444391708MAP3K1c.741C>G (p.Gly247=)
c.363C>G (p.Gly121=)
c.486C>G (p.Gly162=)
c.330C>G (p.Gly110=)
c.252C>G (p.Gly84=)
n.772C>G
 gnomAD v4
5g.56859822C>TCA3272599MAP3K1c.741C>T (p.Gly247=)
c.363C>T (p.Gly121=)
c.486C>T (p.Gly162=)
c.330C>T (p.Gly110=)
c.252C>T (p.Gly84=)
n.772C>T
 dbSNP ExAC gnomAD v2
5g.56859823C>ACA444391712MAP3K1c.742C>A (p.Arg248=)
c.364C>A (p.Arg122=)
c.487C>A (p.Arg163=)
c.331C>A (p.Arg111=)
c.253C>A (p.Arg85=)
n.773C>A
5g.56859823C>GCA359802536MAP3K1c.742C>G (p.Arg248Gly)
c.364C>G (p.Arg122Gly)
c.487C>G (p.Arg163Gly)
c.331C>G (p.Arg111Gly)
c.253C>G (p.Arg85Gly)
n.773C>G
5g.56859823C>TCA359802535MAP3K1c.742C>T (p.Arg248Ter)
c.364C>T (p.Arg122Ter)
c.487C>T (p.Arg163Ter)
c.331C>T (p.Arg111Ter)
c.253C>T (p.Arg85Ter)
n.773C>T
 gnomAD v4 COSMIC
5g.56859825_56859827dupCA559802748MAP3K1c.744_746dup (p.Arg249_Ser250insArg)
c.366_368dup (p.Arg123_Ser124insArg)
c.489_491dup (p.Arg164_Ser165insArg)
c.333_335dup (p.Arg112_Ser113insArg)
c.255_257dup (p.Arg86_Ser87insArg)
n.775_777dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859824G>ACA3272600MAP3K1c.743G>A (p.Arg248Gln)
c.365G>A (p.Arg122Gln)
c.488G>A (p.Arg163Gln)
c.332G>A (p.Arg111Gln)
c.254G>A (p.Arg85Gln)
n.774G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859824G>CCA359802537MAP3K1c.743G>C (p.Arg248Pro)
c.365G>C (p.Arg122Pro)
c.488G>C (p.Arg163Pro)
c.332G>C (p.Arg111Pro)
c.254G>C (p.Arg85Pro)
n.774G>C
5g.56859824G=CA1548129223MAP3K1c.743G= (p.Arg248=)
c.365G= (p.Arg122=)
c.488G= (p.Arg163=)
c.332G= (p.Arg111=)
c.254G= (p.Arg85=)
n.774G=
5g.56859824G>TCA359802538MAP3K1c.743G>T (p.Arg248Leu)
c.365G>T (p.Arg122Leu)
c.488G>T (p.Arg163Leu)
c.332G>T (p.Arg111Leu)
c.254G>T (p.Arg85Leu)
n.774G>T
5g.56859825A=CA1548129224MAP3K1c.744A= (p.Arg248=)
c.366A= (p.Arg122=)
c.489A= (p.Arg163=)
c.333A= (p.Arg111=)
c.255A= (p.Arg85=)
n.775A=
5g.56859825A>CCA444391713MAP3K1c.744A>C (p.Arg248=)
c.366A>C (p.Arg122=)
c.489A>C (p.Arg163=)
c.333A>C (p.Arg111=)
c.255A>C (p.Arg85=)
n.775A>C
5g.56859825A>GCA3272601MAP3K1c.744A>G (p.Arg248=)
c.366A>G (p.Arg122=)
c.489A>G (p.Arg163=)
c.333A>G (p.Arg111=)
c.255A>G (p.Arg85=)
n.775A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859825A>TCA444391714MAP3K1c.744A>T (p.Arg248=)
c.366A>T (p.Arg122=)
c.489A>T (p.Arg163=)
c.333A>T (p.Arg111=)
c.255A>T (p.Arg85=)
n.775A>T
5g.56859826C>ACA359802539MAP3K1c.745C>A (p.Arg249Ser)
c.367C>A (p.Arg123Ser)
c.490C>A (p.Arg164Ser)
c.334C>A (p.Arg112Ser)
c.256C>A (p.Arg86Ser)
n.776C>A
 gnomAD v4
5g.56859826C=CA1548129225MAP3K1c.745C= (p.Arg249=)
c.367C= (p.Arg123=)
c.490C= (p.Arg164=)
c.334C= (p.Arg112=)
c.256C= (p.Arg86=)
n.776C=
5g.56859826C>GCA359802540MAP3K1c.745C>G (p.Arg249Gly)
c.367C>G (p.Arg123Gly)
c.490C>G (p.Arg164Gly)
c.334C>G (p.Arg112Gly)
c.256C>G (p.Arg86Gly)
n.776C>G
5g.56859826C>TCA119520100MAP3K1c.745C>T (p.Arg249Cys)
c.367C>T (p.Arg123Cys)
c.490C>T (p.Arg164Cys)
c.334C>T (p.Arg112Cys)
c.256C>T (p.Arg86Cys)
n.776C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.56859827G>ACA3272602MAP3K1c.746G>A (p.Arg249His)
c.368G>A (p.Arg123His)
c.491G>A (p.Arg164His)
c.335G>A (p.Arg112His)
c.257G>A (p.Arg86His)
n.777G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.56859827G>CCA359802542MAP3K1c.746G>C (p.Arg249Pro)
c.368G>C (p.Arg123Pro)
c.491G>C (p.Arg164Pro)
c.335G>C (p.Arg112Pro)
c.257G>C (p.Arg86Pro)
n.777G>C
5g.56859827G=CA1548129226MAP3K1c.746G= (p.Arg249=)
c.368G= (p.Arg123=)
c.491G= (p.Arg164=)
c.335G= (p.Arg112=)
c.257G= (p.Arg86=)
n.777G=
5g.56859827G>TCA359802541MAP3K1c.746G>T (p.Arg249Leu)
c.368G>T (p.Arg123Leu)
c.491G>T (p.Arg164Leu)
c.335G>T (p.Arg112Leu)
c.257G>T (p.Arg86Leu)
n.777G>T
 gnomAD v4
5g.56859828C>ACA444391715MAP3K1c.747C>A (p.Arg249=)
c.369C>A (p.Arg123=)
c.492C>A (p.Arg164=)
c.336C>A (p.Arg112=)
c.258C>A (p.Arg86=)
n.778C>A
 dbSNP
5g.56859828C>GCA444391716MAP3K1c.747C>G (p.Arg249=)
c.369C>G (p.Arg123=)
c.492C>G (p.Arg164=)
c.336C>G (p.Arg112=)
c.258C>G (p.Arg86=)
n.778C>G
5g.56859828C>TCA444391717MAP3K1c.747C>T (p.Arg249=)
c.369C>T (p.Arg123=)
c.492C>T (p.Arg164=)
c.336C>T (p.Arg112=)
c.258C>T (p.Arg86=)
n.778C>T
5g.56859829A=CA1548129227MAP3K1c.748A= (p.Ser250=)
c.370A= (p.Ser124=)
c.493A= (p.Ser165=)
c.337A= (p.Ser113=)
c.259A= (p.Ser87=)
n.779A=
5g.56859829A>CCA359802543MAP3K1c.748A>C (p.Ser250Arg)
c.370A>C (p.Ser124Arg)
c.493A>C (p.Ser165Arg)
c.337A>C (p.Ser113Arg)
c.259A>C (p.Ser87Arg)
n.779A>C
5g.56859829A>GCA359802544MAP3K1c.748A>G (p.Ser250Gly)
c.370A>G (p.Ser124Gly)
c.493A>G (p.Ser165Gly)
c.337A>G (p.Ser113Gly)
c.259A>G (p.Ser87Gly)
n.779A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859829A>TCA359802545MAP3K1c.748A>T (p.Ser250Cys)
c.370A>T (p.Ser124Cys)
c.493A>T (p.Ser165Cys)
c.337A>T (p.Ser113Cys)
c.259A>T (p.Ser87Cys)
n.779A>T
5g.56859830G>ACA359802546MAP3K1c.749G>A (p.Ser250Asn)
c.371G>A (p.Ser124Asn)
c.494G>A (p.Ser165Asn)
c.338G>A (p.Ser113Asn)
c.260G>A (p.Ser87Asn)
n.780G>A
 dbSNP
5g.56859830G>CCA359802547MAP3K1c.749G>C (p.Ser250Thr)
c.371G>C (p.Ser124Thr)
c.494G>C (p.Ser165Thr)
c.338G>C (p.Ser113Thr)
c.260G>C (p.Ser87Thr)
n.780G>C
5g.56859830G>TCA359802548MAP3K1c.749G>T (p.Ser250Ile)
c.371G>T (p.Ser124Ile)
c.494G>T (p.Ser165Ile)
c.338G>T (p.Ser113Ile)
c.260G>T (p.Ser87Ile)
n.780G>T
5g.56859830_56859831delinsGTCA1548129228MAP3K1c.749_750delinsGT (p.Ser250=)
c.371_372delinsGT (p.Ser124=)
c.494_495delinsGT (p.Ser165=)
c.338_339delinsGT (p.Ser113=)
c.260_261delinsGT (p.Ser87=)
n.780_781delinsGT
5g.56859831delCA119520102MAP3K1c.750del (p.Pro251LeufsTer12)
c.372del (p.Pro125LeufsTer12)
c.495del (p.Pro166LeufsTer12)
c.339del (p.Pro114LeufsTer12)
c.261del (p.Pro88LeufsTer12)
n.781del
 dbSNP
5g.56859831T>ACA359802549MAP3K1c.750T>A (p.Ser250Arg)
c.372T>A (p.Ser124Arg)
c.495T>A (p.Ser165Arg)
c.339T>A (p.Ser113Arg)
c.261T>A (p.Ser87Arg)
n.781T>A
5g.56859831T>CCA444391718MAP3K1c.750T>C (p.Ser250=)
c.372T>C (p.Ser124=)
c.495T>C (p.Ser165=)
c.339T>C (p.Ser113=)
c.261T>C (p.Ser87=)
n.781T>C
5g.56859831T>GCA359802550MAP3K1c.750T>G (p.Ser250Arg)
c.372T>G (p.Ser124Arg)
c.495T>G (p.Ser165Arg)
c.339T>G (p.Ser113Arg)
c.261T>G (p.Ser87Arg)
n.781T>G
5g.56859833_56859854delCA645563847MAP3K1c.752_773del (p.Pro251GlnfsTer5)
c.374_395del (p.Pro125GlnfsTer5)
c.497_518del (p.Pro166GlnfsTer5)
c.341_362del (p.Pro114GlnfsTer5)
c.263_284del (p.Pro88GlnfsTer5)
n.783_804del
 COSMIC
5g.56859832C>ACA359802551MAP3K1c.751C>A (p.Pro251Thr)
c.373C>A (p.Pro125Thr)
c.496C>A (p.Pro166Thr)
c.340C>A (p.Pro114Thr)
c.262C>A (p.Pro88Thr)
n.782C>A
5g.56859832C>GCA359802552MAP3K1c.751C>G (p.Pro251Ala)
c.373C>G (p.Pro125Ala)
c.496C>G (p.Pro166Ala)
c.340C>G (p.Pro114Ala)
c.262C>G (p.Pro88Ala)
n.782C>G
5g.56859832C>TCA359802553MAP3K1c.751C>T (p.Pro251Ser)
c.373C>T (p.Pro125Ser)
c.496C>T (p.Pro166Ser)
c.340C>T (p.Pro114Ser)
c.262C>T (p.Pro88Ser)
n.782C>T
5g.56859832_56859835delinsCCTTCA1548129229MAP3K1c.751_754delinsCCTT (p.Pro251=)
c.373_376delinsCCTT (p.Pro125=)
c.496_499delinsCCTT (p.Pro166=)
c.340_343delinsCCTT (p.Pro114=)
c.262_265delinsCCTT (p.Pro88=)
n.782_785delinsCCTT
5g.56859833C>ACA359802554MAP3K1c.752C>A (p.Pro251His)
c.374C>A (p.Pro125His)
c.497C>A (p.Pro166His)
c.341C>A (p.Pro114His)
c.263C>A (p.Pro88His)
n.783C>A
5g.56859833C>GCA359802556MAP3K1c.752C>G (p.Pro251Arg)
c.374C>G (p.Pro125Arg)
c.497C>G (p.Pro166Arg)
c.341C>G (p.Pro114Arg)
c.263C>G (p.Pro88Arg)
n.783C>G
5g.56859833C>TCA359802555MAP3K1c.752C>T (p.Pro251Leu)
c.374C>T (p.Pro125Leu)
c.497C>T (p.Pro166Leu)
c.341C>T (p.Pro114Leu)
c.263C>T (p.Pro88Leu)
n.783C>T
5g.56859835_56859837delCA1548129230MAP3K1c.754_756del (p.Ser252del)
c.376_378del (p.Ser126del)
c.499_501del (p.Ser167del)
c.343_345del (p.Ser115del)
c.265_267del (p.Ser89del)
n.785_787del
 dbSNP
5g.56859834T>ACA444391719MAP3K1c.753T>A (p.Pro251=)
c.375T>A (p.Pro125=)
c.498T>A (p.Pro166=)
c.342T>A (p.Pro114=)
c.264T>A (p.Pro88=)
n.784T>A
5g.56859834T>CCA444391720MAP3K1c.753T>C (p.Pro251=)
c.375T>C (p.Pro125=)
c.498T>C (p.Pro166=)
c.342T>C (p.Pro114=)
c.264T>C (p.Pro88=)
n.784T>C
5g.56859834T>GCA444391721MAP3K1c.753T>G (p.Pro251=)
c.375T>G (p.Pro125=)
c.498T>G (p.Pro166=)
c.342T>G (p.Pro114=)
c.264T>G (p.Pro88=)
n.784T>G
5g.56859835T>ACA359802557MAP3K1c.754T>A (p.Ser252Thr)
c.376T>A (p.Ser126Thr)
c.499T>A (p.Ser167Thr)
c.343T>A (p.Ser115Thr)
c.265T>A (p.Ser89Thr)
n.785T>A
5g.56859835T>CCA359802558MAP3K1c.754T>C (p.Ser252Pro)
c.376T>C (p.Ser126Pro)
c.499T>C (p.Ser167Pro)
c.343T>C (p.Ser115Pro)
c.265T>C (p.Ser89Pro)
n.785T>C
 dbSNP gnomAD v4
5g.56859835T>GCA359802559MAP3K1c.754T>G (p.Ser252Ala)
c.376T>G (p.Ser126Ala)
c.499T>G (p.Ser167Ala)
c.343T>G (p.Ser115Ala)
c.265T>G (p.Ser89Ala)
n.785T>G
5g.56859835_56859838delinsTCTCCA1548129231MAP3K1c.754_757delinsTCTC (p.Ser252=)
c.376_379delinsTCTC (p.Ser126=)
c.499_502delinsTCTC (p.Ser167=)
c.343_346delinsTCTC (p.Ser115=)
c.265_268delinsTCTC (p.Ser89=)
n.785_788delinsTCTC
5g.56859836C>ACA359802560MAP3K1c.755C>A (p.Ser252Tyr)
c.377C>A (p.Ser126Tyr)
c.500C>A (p.Ser167Tyr)
c.344C>A (p.Ser115Tyr)
c.266C>A (p.Ser89Tyr)
n.786C>A
5g.56859836C>GCA359802561MAP3K1c.755C>G (p.Ser252Cys)
c.377C>G (p.Ser126Cys)
c.500C>G (p.Ser167Cys)
c.344C>G (p.Ser115Cys)
c.266C>G (p.Ser89Cys)
n.786C>G
5g.56859836C>TCA359802562MAP3K1c.755C>T (p.Ser252Phe)
c.377C>T (p.Ser126Phe)
c.500C>T (p.Ser167Phe)
c.344C>T (p.Ser115Phe)
c.266C>T (p.Ser89Phe)
n.786C>T
5g.56859838_56859840delCA444391722MAP3K1c.757_759del (p.Pro253del)
c.379_381del (p.Pro127del)
c.502_504del (p.Pro168del)
c.346_348del (p.Pro116del)
c.268_270del (p.Pro90del)
n.788_790del
 dbSNP gnomAD v3 gnomAD v4
5g.56859837T>ACA444391723MAP3K1c.756T>A (p.Ser252=)
c.378T>A (p.Ser126=)
c.501T>A (p.Ser167=)
c.345T>A (p.Ser115=)
c.267T>A (p.Ser89=)
n.787T>A
5g.56859837T>CCA444391724MAP3K1c.756T>C (p.Ser252=)
c.378T>C (p.Ser126=)
c.501T>C (p.Ser167=)
c.345T>C (p.Ser115=)
c.267T>C (p.Ser89=)
n.787T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859837T>GCA444391725MAP3K1c.756T>G (p.Ser252=)
c.378T>G (p.Ser126=)
c.501T>G (p.Ser167=)
c.345T>G (p.Ser115=)
c.267T>G (p.Ser89=)
n.787T>G
5g.56859837T=CA1548129232MAP3K1c.756T= (p.Ser252=)
c.378T= (p.Ser126=)
c.501T= (p.Ser167=)
c.345T= (p.Ser115=)
c.267T= (p.Ser89=)
n.787T=
5g.56859838C>ACA359802563MAP3K1c.757C>A (p.Pro253Thr)
c.379C>A (p.Pro127Thr)
c.502C>A (p.Pro168Thr)
c.346C>A (p.Pro116Thr)
c.268C>A (p.Pro90Thr)
n.788C>A
5g.56859838C>GCA359802564MAP3K1c.757C>G (p.Pro253Ala)
c.379C>G (p.Pro127Ala)
c.502C>G (p.Pro168Ala)
c.346C>G (p.Pro116Ala)
c.268C>G (p.Pro90Ala)
n.788C>G
 gnomAD v4
5g.56859838C>TCA359802565MAP3K1c.757C>T (p.Pro253Ser)
c.379C>T (p.Pro127Ser)
c.502C>T (p.Pro168Ser)
c.346C>T (p.Pro116Ser)
c.268C>T (p.Pro90Ser)
n.788C>T
 gnomAD v4
5g.56859839C>ACA359802566MAP3K1c.758C>A (p.Pro253His)
c.380C>A (p.Pro127His)
c.503C>A (p.Pro168His)
c.347C>A (p.Pro116His)
c.269C>A (p.Pro90His)
n.789C>A
5g.56859839C>GCA359802567MAP3K1c.758C>G (p.Pro253Arg)
c.380C>G (p.Pro127Arg)
c.503C>G (p.Pro168Arg)
c.347C>G (p.Pro116Arg)
c.269C>G (p.Pro90Arg)
n.789C>G
5g.56859839C>TCA359802568MAP3K1c.758C>T (p.Pro253Leu)
c.380C>T (p.Pro127Leu)
c.503C>T (p.Pro168Leu)
c.347C>T (p.Pro116Leu)
c.269C>T (p.Pro90Leu)
n.789C>T
 gnomAD v4
5g.56859840T>ACA444391726MAP3K1c.759T>A (p.Pro253=)
c.381T>A (p.Pro127=)
c.504T>A (p.Pro168=)
c.348T>A (p.Pro116=)
c.270T>A (p.Pro90=)
n.790T>A
5g.56859840T>CCA444391727MAP3K1c.759T>C (p.Pro253=)
c.381T>C (p.Pro127=)
c.504T>C (p.Pro168=)
c.348T>C (p.Pro116=)
c.270T>C (p.Pro90=)
n.790T>C
5g.56859840T>GCA444391728MAP3K1c.759T>G (p.Pro253=)
c.381T>G (p.Pro127=)
c.504T>G (p.Pro168=)
c.348T>G (p.Pro116=)
c.270T>G (p.Pro90=)
n.790T>G
5g.56859841G>ACA359802571MAP3K1c.760G>A (p.Gly254Ser)
c.382G>A (p.Gly128Ser)
c.505G>A (p.Gly169Ser)
c.349G>A (p.Gly117Ser)
c.271G>A (p.Gly91Ser)
n.791G>A
 dbSNP gnomAD v2 gnomAD v4
5g.56859841G>CCA359802570MAP3K1c.760G>C (p.Gly254Arg)
c.382G>C (p.Gly128Arg)
c.505G>C (p.Gly169Arg)
c.349G>C (p.Gly117Arg)
c.271G>C (p.Gly91Arg)
n.791G>C
5g.56859841G=CA1548129233MAP3K1c.760G= (p.Gly254=)
c.382G= (p.Gly128=)
c.505G= (p.Gly169=)
c.349G= (p.Gly117=)
c.271G= (p.Gly91=)
n.791G=
5g.56859841G>TCA359802569MAP3K1c.760G>T (p.Gly254Cys)
c.382G>T (p.Gly128Cys)
c.505G>T (p.Gly169Cys)
c.349G>T (p.Gly117Cys)
c.271G>T (p.Gly91Cys)
n.791G>T
5g.56859842G>ACA359802572MAP3K1c.761G>A (p.Gly254Asp)
c.383G>A (p.Gly128Asp)
c.506G>A (p.Gly169Asp)
c.350G>A (p.Gly117Asp)
c.272G>A (p.Gly91Asp)
n.792G>A
5g.56859842G>CCA359802573MAP3K1c.761G>C (p.Gly254Ala)
c.383G>C (p.Gly128Ala)
c.506G>C (p.Gly169Ala)
c.350G>C (p.Gly117Ala)
c.272G>C (p.Gly91Ala)
n.792G>C
5g.56859842G>TCA359802574MAP3K1c.761G>T (p.Gly254Val)
c.383G>T (p.Gly128Val)
c.506G>T (p.Gly169Val)
c.350G>T (p.Gly117Val)
c.272G>T (p.Gly91Val)
n.792G>T
5g.56859843C>ACA444391729MAP3K1c.762C>A (p.Gly254=)
c.384C>A (p.Gly128=)
c.507C>A (p.Gly169=)
c.351C>A (p.Gly117=)
c.273C>A (p.Gly91=)
n.793C>A
5g.56859843C=CA1548129234MAP3K1c.762C= (p.Gly254=)
c.384C= (p.Gly128=)
c.507C= (p.Gly169=)
c.351C= (p.Gly117=)
c.273C= (p.Gly91=)
n.793C=
5g.56859843C>GCA444391730MAP3K1c.762C>G (p.Gly254=)
c.384C>G (p.Gly128=)
c.507C>G (p.Gly169=)
c.351C>G (p.Gly117=)
c.273C>G (p.Gly91=)
n.793C>G
5g.56859843C>TCA3272603MAP3K1c.762C>T (p.Gly254=)
c.384C>T (p.Gly128=)
c.507C>T (p.Gly169=)
c.351C>T (p.Gly117=)
c.273C>T (p.Gly91=)
n.793C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859844A>CCA359802575MAP3K1c.763A>C (p.Asn255His)
c.385A>C (p.Asn129His)
c.508A>C (p.Asn170His)
c.352A>C (p.Asn118His)
c.274A>C (p.Asn92His)
n.794A>C
5g.56859844A>GCA359802576MAP3K1c.763A>G (p.Asn255Asp)
c.385A>G (p.Asn129Asp)
c.508A>G (p.Asn170Asp)
c.352A>G (p.Asn118Asp)
c.274A>G (p.Asn92Asp)
n.794A>G
5g.56859844A>TCA359802577MAP3K1c.763A>T (p.Asn255Tyr)
c.385A>T (p.Asn129Tyr)
c.508A>T (p.Asn170Tyr)
c.352A>T (p.Asn118Tyr)
c.274A>T (p.Asn92Tyr)
n.794A>T
5g.56859845A=CA1548129235MAP3K1c.764A= (p.Asn255=)
c.386A= (p.Asn129=)
c.509A= (p.Asn170=)
c.353A= (p.Asn118=)
c.275A= (p.Asn92=)
n.795A=
5g.56859845A>CCA359802578MAP3K1c.764A>C (p.Asn255Thr)
c.386A>C (p.Asn129Thr)
c.509A>C (p.Asn170Thr)
c.353A>C (p.Asn118Thr)
c.275A>C (p.Asn92Thr)
n.795A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859845A>GCA3272604MAP3K1c.764A>G (p.Asn255Ser)
c.386A>G (p.Asn129Ser)
c.509A>G (p.Asn170Ser)
c.353A>G (p.Asn118Ser)
c.275A>G (p.Asn92Ser)
n.795A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859845A>TCA359802579MAP3K1c.764A>T (p.Asn255Ile)
c.386A>T (p.Asn129Ile)
c.509A>T (p.Asn170Ile)
c.353A>T (p.Asn118Ile)
c.275A>T (p.Asn92Ile)
n.795A>T
5g.56859846C>ACA359802580MAP3K1c.765C>A (p.Asn255Lys)
c.387C>A (p.Asn129Lys)
c.510C>A (p.Asn170Lys)
c.354C>A (p.Asn118Lys)
c.276C>A (p.Asn92Lys)
n.796C>A
5g.56859846C>GCA359802581MAP3K1c.765C>G (p.Asn255Lys)
c.387C>G (p.Asn129Lys)
c.510C>G (p.Asn170Lys)
c.354C>G (p.Asn118Lys)
c.276C>G (p.Asn92Lys)
n.796C>G
5g.56859846C>TCA444391731MAP3K1c.765C>T (p.Asn255=)
c.387C>T (p.Asn129=)
c.510C>T (p.Asn170=)
c.354C>T (p.Asn118=)
c.276C>T (p.Asn92=)
n.796C>T
 dbSNP
5g.56859847T>ACA359802584MAP3K1c.766T>A (p.Ser256Thr)
c.388T>A (p.Ser130Thr)
c.511T>A (p.Ser171Thr)
c.355T>A (p.Ser119Thr)
c.277T>A (p.Ser93Thr)
n.797T>A
5g.56859847T>CCA359802583MAP3K1c.766T>C (p.Ser256Pro)
c.388T>C (p.Ser130Pro)
c.511T>C (p.Ser171Pro)
c.355T>C (p.Ser119Pro)
c.277T>C (p.Ser93Pro)
n.797T>C
 gnomAD v4
5g.56859847T>GCA359802582MAP3K1c.766T>G (p.Ser256Ala)
c.388T>G (p.Ser130Ala)
c.511T>G (p.Ser171Ala)
c.355T>G (p.Ser119Ala)
c.277T>G (p.Ser93Ala)
n.797T>G
5g.56859848C>ACA3272605MAP3K1c.767C>A (p.Ser256Tyr)
c.389C>A (p.Ser130Tyr)
c.512C>A (p.Ser171Tyr)
c.356C>A (p.Ser119Tyr)
c.278C>A (p.Ser93Tyr)
n.798C>A
 dbSNP ExAC gnomAD v2
5g.56859848C=CA1548129236MAP3K1c.767C= (p.Ser256=)
c.389C= (p.Ser130=)
c.512C= (p.Ser171=)
c.356C= (p.Ser119=)
c.278C= (p.Ser93=)
n.798C=
5g.56859848C>GCA359802585MAP3K1c.767C>G (p.Ser256Cys)
c.389C>G (p.Ser130Cys)
c.512C>G (p.Ser171Cys)
c.356C>G (p.Ser119Cys)
c.278C>G (p.Ser93Cys)
n.798C>G
 gnomAD v4
5g.56859848C>TCA359802586MAP3K1c.767C>T (p.Ser256Phe)
c.389C>T (p.Ser130Phe)
c.512C>T (p.Ser171Phe)
c.356C>T (p.Ser119Phe)
c.278C>T (p.Ser93Phe)
n.798C>T
5g.56859849C>ACA444391732MAP3K1c.768C>A (p.Ser256=)
c.390C>A (p.Ser130=)
c.513C>A (p.Ser171=)
c.357C>A (p.Ser119=)
c.279C>A (p.Ser93=)
n.799C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859849C=CA1548129237MAP3K1c.768C= (p.Ser256=)
c.390C= (p.Ser130=)
c.513C= (p.Ser171=)
c.357C= (p.Ser119=)
c.279C= (p.Ser93=)
n.799C=
5g.56859849C>GCA444391733MAP3K1c.768C>G (p.Ser256=)
c.390C>G (p.Ser130=)
c.513C>G (p.Ser171=)
c.357C>G (p.Ser119=)
c.279C>G (p.Ser93=)
n.799C>G
5g.56859849C>TCA444391734MAP3K1c.768C>T (p.Ser256=)
c.390C>T (p.Ser130=)
c.513C>T (p.Ser171=)
c.357C>T (p.Ser119=)
c.279C>T (p.Ser93=)
n.799C>T
 dbSNP
5g.56859850C>ACA359802587MAP3K1c.769C>A (p.Pro257Thr)
c.391C>A (p.Pro131Thr)
c.514C>A (p.Pro172Thr)
c.358C>A (p.Pro120Thr)
c.280C>A (p.Pro94Thr)
n.800C>A
5g.56859850C>GCA359802588MAP3K1c.769C>G (p.Pro257Ala)
c.391C>G (p.Pro131Ala)
c.514C>G (p.Pro172Ala)
c.358C>G (p.Pro120Ala)
c.280C>G (p.Pro94Ala)
n.800C>G
5g.56859850C>TCA359802589MAP3K1c.769C>T (p.Pro257Ser)
c.391C>T (p.Pro131Ser)
c.514C>T (p.Pro172Ser)
c.358C>T (p.Pro120Ser)
c.280C>T (p.Pro94Ser)
n.800C>T
 gnomAD v4
5g.56859851C>ACA359802591MAP3K1c.770C>A (p.Pro257Gln)
c.392C>A (p.Pro131Gln)
c.515C>A (p.Pro172Gln)
c.359C>A (p.Pro120Gln)
c.281C>A (p.Pro94Gln)
n.801C>A
 dbSNP
5g.56859851C=CA1548129238MAP3K1c.770C= (p.Pro257=)
c.392C= (p.Pro131=)
c.515C= (p.Pro172=)
c.359C= (p.Pro120=)
c.281C= (p.Pro94=)
n.801C=
5g.56859851C>GCA359802590MAP3K1c.770C>G (p.Pro257Arg)
c.392C>G (p.Pro131Arg)
c.515C>G (p.Pro172Arg)
c.359C>G (p.Pro120Arg)
c.281C>G (p.Pro94Arg)
n.801C>G
5g.56859851C>TCA210011MAP3K1c.770C>T (p.Pro257Leu)
c.392C>T (p.Pro131Leu)
c.515C>T (p.Pro172Leu)
c.359C>T (p.Pro120Leu)
c.281C>T (p.Pro94Leu)
n.801C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859852A=CA1548129239MAP3K1c.771A= (p.Pro257=)
c.393A= (p.Pro131=)
c.516A= (p.Pro172=)
c.360A= (p.Pro120=)
c.282A= (p.Pro94=)
n.802A=
5g.56859852A>CCA444391736MAP3K1c.771A>C (p.Pro257=)
c.393A>C (p.Pro131=)
c.516A>C (p.Pro172=)
c.360A>C (p.Pro120=)
c.282A>C (p.Pro94=)
n.802A>C
5g.56859852A>GCA3272606MAP3K1c.771A>G (p.Pro257=)
c.393A>G (p.Pro131=)
c.516A>G (p.Pro172=)
c.360A>G (p.Pro120=)
c.282A>G (p.Pro94=)
n.802A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.56859852A>TCA444391735MAP3K1c.771A>T (p.Pro257=)
c.393A>T (p.Pro131=)
c.516A>T (p.Pro172=)
c.360A>T (p.Pro120=)
c.282A>T (p.Pro94=)
n.802A>T
5g.56859853T>ACA359802592MAP3K1c.772T>A (p.Ser258Thr)
c.394T>A (p.Ser132Thr)
c.517T>A (p.Ser173Thr)
c.361T>A (p.Ser121Thr)
c.283T>A (p.Ser95Thr)
n.803T>A
5g.56859853T>CCA359802593MAP3K1c.772T>C (p.Ser258Pro)
c.394T>C (p.Ser132Pro)
c.517T>C (p.Ser173Pro)
c.361T>C (p.Ser121Pro)
c.283T>C (p.Ser95Pro)
n.803T>C
5g.56859853T>GCA359802594MAP3K1c.772T>G (p.Ser258Ala)
c.394T>G (p.Ser132Ala)
c.517T>G (p.Ser173Ala)
c.361T>G (p.Ser121Ala)
c.283T>G (p.Ser95Ala)
n.803T>G
 gnomAD v4
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.56859854C>ACA359802595MAP3K1c.773C>A (p.Ser258Ter)
c.395C>A (p.Ser132Ter)
c.518C>A (p.Ser173Ter)
c.362C>A (p.Ser121Ter)
c.284C>A (p.Ser95Ter)
n.804C>A
5g.56859854C>GCA359802596MAP3K1c.773C>G (p.Ser258Ter)
c.395C>G (p.Ser132Ter)
c.518C>G (p.Ser173Ter)
c.362C>G (p.Ser121Ter)
c.284C>G (p.Ser95Ter)
n.804C>G
5g.56859854C>TCA359802597MAP3K1c.773C>T (p.Ser258Leu)
c.395C>T (p.Ser132Leu)
c.518C>T (p.Ser173Leu)
c.362C>T (p.Ser121Leu)
c.284C>T (p.Ser95Leu)
n.804C>T
 COSMIC
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.56859855A>CCA444391737MAP3K1c.774A>C (p.Ser258=)
c.396A>C (p.Ser132=)
c.519A>C (p.Ser173=)
c.363A>C (p.Ser121=)
c.285A>C (p.Ser95=)
n.805A>C
5g.56859855A>GCA444391738MAP3K1c.774A>G (p.Ser258=)
c.396A>G (p.Ser132=)
c.519A>G (p.Ser173=)
c.363A>G (p.Ser121=)
c.285A>G (p.Ser95=)
n.805A>G
5g.56859855A>TCA444391739MAP3K1c.774A>T (p.Ser258=)
c.396A>T (p.Ser132=)
c.519A>T (p.Ser173=)
c.363A>T (p.Ser121=)
c.285A>T (p.Ser95=)
n.805A>T
5g.56859856G>ACA359802598MAP3K1c.775G>A (p.Gly259Ser)
c.397G>A (p.Gly133Ser)
c.520G>A (p.Gly174Ser)
c.364G>A (p.Gly122Ser)
c.286G>A (p.Gly96Ser)
n.806G>A
5g.56859856G>CCA359802600MAP3K1c.775G>C (p.Gly259Arg)
c.397G>C (p.Gly133Arg)
c.520G>C (p.Gly174Arg)
c.364G>C (p.Gly122Arg)
c.286G>C (p.Gly96Arg)
n.806G>C
5g.56859856G>TCA359802599MAP3K1c.775G>T (p.Gly259Cys)
c.397G>T (p.Gly133Cys)
c.520G>T (p.Gly174Cys)
c.364G>T (p.Gly122Cys)
c.286G>T (p.Gly96Cys)
n.806G>T
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
5g.56859869A>TCA359802624MAP3K1c.788A>T (p.Lys263Ile)
c.410A>T (p.Lys137Ile)
c.533A>T (p.Lys178Ile)
c.377A>T (p.Lys126Ile)
c.299A>T (p.Lys100Ile)
n.819A>T
5g.56859870A>CCA359802625MAP3K1c.789A>C (p.Lys263Asn)
c.411A>C (p.Lys137Asn)
c.534A>C (p.Lys178Asn)
c.378A>C (p.Lys126Asn)
c.300A>C (p.Lys100Asn)
n.820A>C
5g.56859870A>GCA444391751MAP3K1c.789A>G (p.Lys263=)
c.411A>G (p.Lys137=)
c.534A>G (p.Lys178=)
c.378A>G (p.Lys126=)
c.300A>G (p.Lys100=)
n.820A>G
 gnomAD v4
5g.56859870A>TCA359802626MAP3K1c.789A>T (p.Lys263Asn)
c.411A>T (p.Lys137Asn)
c.534A>T (p.Lys178Asn)
c.378A>T (p.Lys126Asn)
c.300A>T (p.Lys100Asn)
n.820A>T
5g.56859871T>ACA359802627MAP3K1c.790T>A (p.Ser264Thr)
c.412T>A (p.Ser138Thr)
c.535T>A (p.Ser179Thr)
c.379T>A (p.Ser127Thr)
c.301T>A (p.Ser101Thr)
n.821T>A
 dbSNP gnomAD v2
5g.56859871T>CCA359802629MAP3K1c.790T>C (p.Ser264Pro)
c.412T>C (p.Ser138Pro)
c.535T>C (p.Ser179Pro)
c.379T>C (p.Ser127Pro)
c.301T>C (p.Ser101Pro)
n.821T>C
5g.56859871T>GCA359802628MAP3K1c.790T>G (p.Ser264Ala)
c.412T>G (p.Ser138Ala)
c.535T>G (p.Ser179Ala)
c.379T>G (p.Ser127Ala)
c.301T>G (p.Ser101Ala)
n.821T>G
5g.56859871T=CA1548129251MAP3K1c.790T= (p.Ser264=)
c.412T= (p.Ser138=)
c.535T= (p.Ser179=)
c.379T= (p.Ser127=)
c.301T= (p.Ser101=)
n.821T=
5g.56859872C>ACA359802630MAP3K1c.791C>A (p.Ser264Ter)
c.413C>A (p.Ser138Ter)
c.536C>A (p.Ser179Ter)
c.380C>A (p.Ser127Ter)
c.302C>A (p.Ser101Ter)
n.822C>A
5g.56859872C>GCA359802631MAP3K1c.791C>G (p.Ser264Ter)
c.413C>G (p.Ser138Ter)
c.536C>G (p.Ser179Ter)
c.380C>G (p.Ser127Ter)
c.302C>G (p.Ser101Ter)
n.822C>G
5g.56859872C>TCA359802632MAP3K1c.791C>T (p.Ser264Leu)
c.413C>T (p.Ser138Leu)
c.536C>T (p.Ser179Leu)
c.380C>T (p.Ser127Leu)
c.302C>T (p.Ser101Leu)
n.822C>T
5g.56859872_56859874delinsCAGCA1548129252MAP3K1c.791_793delinsCAG (p.Ser264=)
c.413_415delinsCAG (p.Ser138=)
c.536_538delinsCAG (p.Ser179=)
c.380_382delinsCAG (p.Ser127=)
c.302_304delinsCAG (p.Ser101=)
n.822_824delinsCAG
5g.56859873A>CCA444391752MAP3K1c.792A>C (p.Ser264=)
c.414A>C (p.Ser138=)
c.537A>C (p.Ser179=)
c.381A>C (p.Ser127=)
c.303A>C (p.Ser101=)
n.823A>C
5g.56859873A>GCA444391754MAP3K1c.792A>G (p.Ser264=)
c.414A>G (p.Ser138=)
c.537A>G (p.Ser179=)
c.381A>G (p.Ser127=)
c.303A>G (p.Ser101=)
n.823A>G
5g.56859873A>TCA444391753MAP3K1c.792A>T (p.Ser264=)
c.414A>T (p.Ser138=)
c.537A>T (p.Ser179=)
c.381A>T (p.Ser127=)
c.303A>T (p.Ser101=)
n.823A>T
5g.56859874_56859875delCA559802750MAP3K1c.793_794del (p.Glu265IlefsTer?)
c.415_416del (p.Glu139IlefsTer?)
c.538_539del (p.Glu180IlefsTer?)
c.382_383del (p.Glu128IlefsTer?)
c.304_305del (p.Glu102IlefsTer?)
n.824_825del
 dbSNP gnomAD v2 gnomAD v4
5g.56859874G>ACA359802633MAP3K1c.793G>A (p.Glu265Lys)
c.415G>A (p.Glu139Lys)
c.538G>A (p.Glu180Lys)
c.382G>A (p.Glu128Lys)
c.304G>A (p.Glu102Lys)
n.824G>A
5g.56859874G>CCA359802634MAP3K1c.793G>C (p.Glu265Gln)
c.415G>C (p.Glu139Gln)
c.538G>C (p.Glu180Gln)
c.382G>C (p.Glu128Gln)
c.304G>C (p.Glu102Gln)
n.824G>C
5g.56859874G>TCA359802635MAP3K1c.793G>T (p.Glu265Ter)
c.415G>T (p.Glu139Ter)
c.538G>T (p.Glu180Ter)
c.382G>T (p.Glu128Ter)
c.304G>T (p.Glu102Ter)
n.824G>T
5g.56859875A>CCA359802636MAP3K1c.794A>C (p.Glu265Ala)
c.416A>C (p.Glu139Ala)
c.539A>C (p.Glu180Ala)
c.383A>C (p.Glu128Ala)
c.305A>C (p.Glu102Ala)
n.825A>C
5g.56859875A>GCA359802637MAP3K1c.794A>G (p.Glu265Gly)
c.416A>G (p.Glu139Gly)
c.539A>G (p.Glu180Gly)
c.383A>G (p.Glu128Gly)
c.305A>G (p.Glu102Gly)
n.825A>G
5g.56859875A>TCA359802638MAP3K1c.794A>T (p.Glu265Val)
c.416A>T (p.Glu139Val)
c.539A>T (p.Glu180Val)
c.383A>T (p.Glu128Val)
c.305A>T (p.Glu102Val)
n.825A>T
5g.56859876A>CCA359802639MAP3K1c.795A>C (p.Glu265Asp)
c.417A>C (p.Glu139Asp)
c.540A>C (p.Glu180Asp)
c.384A>C (p.Glu128Asp)
c.306A>C (p.Glu102Asp)
n.826A>C
5g.56859876A>GCA444391755MAP3K1c.795A>G (p.Glu265=)
c.417A>G (p.Glu139=)
c.540A>G (p.Glu180=)
c.384A>G (p.Glu128=)
c.306A>G (p.Glu102=)
n.826A>G
5g.56859876A>TCA359802640MAP3K1c.795A>T (p.Glu265Asp)
c.417A>T (p.Glu139Asp)
c.540A>T (p.Glu180Asp)
c.384A>T (p.Glu128Asp)
c.306A>T (p.Glu102Asp)
n.826A>T
5g.56859877T>ACA359802641MAP3K1c.796T>A (p.Ser266Thr)
c.418T>A (p.Ser140Thr)
c.541T>A (p.Ser181Thr)
c.385T>A (p.Ser129Thr)
c.307T>A (p.Ser103Thr)
n.827T>A
5g.56859877T>CCA359802643MAP3K1c.796T>C (p.Ser266Pro)
c.418T>C (p.Ser140Pro)
c.541T>C (p.Ser181Pro)
c.385T>C (p.Ser129Pro)
c.307T>C (p.Ser103Pro)
n.827T>C
5g.56859877T>GCA359802642MAP3K1c.796T>G (p.Ser266Ala)
c.418T>G (p.Ser140Ala)
c.541T>G (p.Ser181Ala)
c.385T>G (p.Ser129Ala)
c.307T>G (p.Ser103Ala)
n.827T>G
5g.56859878C>ACA359802644MAP3K1c.797C>A (p.Ser266Tyr)
c.419C>A (p.Ser140Tyr)
c.542C>A (p.Ser181Tyr)
c.386C>A (p.Ser129Tyr)
c.308C>A (p.Ser103Tyr)
n.828C>A
5g.56859878C>GCA359802645MAP3K1c.797C>G (p.Ser266Cys)
c.419C>G (p.Ser140Cys)
c.542C>G (p.Ser181Cys)
c.386C>G (p.Ser129Cys)
c.308C>G (p.Ser103Cys)
n.828C>G
5g.56859878C>TCA359802646MAP3K1c.797C>T (p.Ser266Phe)
c.419C>T (p.Ser140Phe)
c.542C>T (p.Ser181Phe)
c.386C>T (p.Ser129Phe)
c.308C>T (p.Ser103Phe)
n.828C>T
5g.56859879T>ACA444391756MAP3K1c.798T>A (p.Ser266=)
c.420T>A (p.Ser140=)
c.543T>A (p.Ser181=)
c.387T>A (p.Ser129=)
c.309T>A (p.Ser103=)
n.829T>A
5g.56859879T>CCA444391757MAP3K1c.798T>C (p.Ser266=)
c.420T>C (p.Ser140=)
c.543T>C (p.Ser181=)
c.387T>C (p.Ser129=)
c.309T>C (p.Ser103=)
n.829T>C
5g.56859879T>GCA444391758MAP3K1c.798T>G (p.Ser266=)
c.420T>G (p.Ser140=)
c.543T>G (p.Ser181=)
c.387T>G (p.Ser129=)
c.309T>G (p.Ser103=)
n.829T>G
5g.56859880C>ACA359802647MAP3K1c.799C>A (p.Pro267Thr)
c.421C>A (p.Pro141Thr)
c.544C>A (p.Pro182Thr)
c.388C>A (p.Pro130Thr)
c.310C>A (p.Pro104Thr)
n.830C>A
5g.56859880C=CA1548129253MAP3K1c.799C= (p.Pro267=)
c.421C= (p.Pro141=)
c.544C= (p.Pro182=)
c.388C= (p.Pro130=)
c.310C= (p.Pro104=)
n.830C=
5g.56859880C>GCA359802648MAP3K1c.799C>G (p.Pro267Ala)
c.421C>G (p.Pro141Ala)
c.544C>G (p.Pro182Ala)
c.388C>G (p.Pro130Ala)
c.310C>G (p.Pro104Ala)
n.830C>G
5g.56859880C>TCA119520113MAP3K1c.799C>T (p.Pro267Ser)
c.421C>T (p.Pro141Ser)
c.544C>T (p.Pro182Ser)
c.388C>T (p.Pro130Ser)
c.310C>T (p.Pro104Ser)
n.830C>T
 dbSNP gnomAD v2 gnomAD v4
5g.56859881C>ACA359802651MAP3K1c.800C>A (p.Pro267Gln)
c.422C>A (p.Pro141Gln)
c.545C>A (p.Pro182Gln)
c.389C>A (p.Pro130Gln)
c.311C>A (p.Pro104Gln)
n.831C>A
5g.56859881C>GCA359802650MAP3K1c.800C>G (p.Pro267Arg)
c.422C>G (p.Pro141Arg)
c.545C>G (p.Pro182Arg)
c.389C>G (p.Pro130Arg)
c.311C>G (p.Pro104Arg)
n.831C>G
5g.56859881C>TCA359802649MAP3K1c.800C>T (p.Pro267Leu)
c.422C>T (p.Pro141Leu)
c.545C>T (p.Pro182Leu)
c.389C>T (p.Pro130Leu)
c.311C>T (p.Pro104Leu)
n.831C>T
5g.56859882A=CA1548129254MAP3K1c.801A= (p.Pro267=)
c.423A= (p.Pro141=)
c.546A= (p.Pro182=)
c.390A= (p.Pro130=)
c.312A= (p.Pro104=)
n.832A=
5g.56859882A>CCA444391759MAP3K1c.801A>C (p.Pro267=)
c.423A>C (p.Pro141=)
c.546A>C (p.Pro182=)
c.390A>C (p.Pro130=)
c.312A>C (p.Pro104=)
n.832A>C
 dbSNP gnomAD v3 gnomAD v4
5g.56859882A>GCA444391760MAP3K1c.801A>G (p.Pro267=)
c.423A>G (p.Pro141=)
c.546A>G (p.Pro182=)
c.390A>G (p.Pro130=)
c.312A>G (p.Pro104=)
n.832A>G
5g.56859882A>TCA444391761MAP3K1c.801A>T (p.Pro267=)
c.423A>T (p.Pro141=)
c.546A>T (p.Pro182=)
c.390A>T (p.Pro130=)
c.312A>T (p.Pro104=)
n.832A>T
5g.56859883G>ACA359802652MAP3K1c.802G>A (p.Gly268Arg)
c.424G>A (p.Gly142Arg)
c.547G>A (p.Gly183Arg)
c.391G>A (p.Gly131Arg)
c.313G>A (p.Gly105Arg)
n.833G>A
 dbSNP
5g.56859883G>CCA359802653MAP3K1c.802G>C (p.Gly268Arg)
c.424G>C (p.Gly142Arg)
c.547G>C (p.Gly183Arg)
c.391G>C (p.Gly131Arg)
c.313G>C (p.Gly105Arg)
n.833G>C
5g.56859883G>TCA359802654MAP3K1c.802G>T (p.Gly268Ter)
c.424G>T (p.Gly142Ter)
c.547G>T (p.Gly183Ter)
c.391G>T (p.Gly131Ter)
c.313G>T (p.Gly105Ter)
n.833G>T
5g.56859884G>ACA359802655MAP3K1c.803G>A (p.Gly268Glu)
c.425G>A (p.Gly142Glu)
c.548G>A (p.Gly183Glu)
c.392G>A (p.Gly131Glu)
c.314G>A (p.Gly105Glu)
n.834G>A
 dbSNP
5g.56859884G>CCA359802656MAP3K1c.803G>C (p.Gly268Ala)
c.425G>C (p.Gly142Ala)
c.548G>C (p.Gly183Ala)
c.392G>C (p.Gly131Ala)
c.314G>C (p.Gly105Ala)
n.834G>C
5g.56859884G=CA1548129255MAP3K1c.803G= (p.Gly268=)
c.425G= (p.Gly142=)
c.548G= (p.Gly183=)
c.392G= (p.Gly131=)
c.314G= (p.Gly105=)
n.834G=
5g.56859884G>TCA359802657MAP3K1c.803G>T (p.Gly268Val)
c.425G>T (p.Gly142Val)
c.548G>T (p.Gly183Val)
c.392G>T (p.Gly131Val)
c.314G>T (p.Gly105Val)
n.834G>T
 dbSNP
5g.56859885A=CA1548129256MAP3K1c.804A= (p.Gly268=)
c.426A= (p.Gly142=)
c.549A= (p.Gly183=)
c.393A= (p.Gly131=)
c.315A= (p.Gly105=)
n.835A=
5g.56859885A>CCA444391762MAP3K1c.804A>C (p.Gly268=)
c.426A>C (p.Gly142=)
c.549A>C (p.Gly183=)
c.393A>C (p.Gly131=)
c.315A>C (p.Gly105=)
n.835A>C
 dbSNP gnomAD v3 gnomAD v4
5g.56859885A>GCA444391763MAP3K1c.804A>G (p.Gly268=)
c.426A>G (p.Gly142=)
c.549A>G (p.Gly183=)
c.393A>G (p.Gly131=)
c.315A>G (p.Gly105=)
n.835A>G
 gnomAD v4
5g.56859885A>TCA444391764MAP3K1c.804A>T (p.Gly268=)
c.426A>T (p.Gly142=)
c.549A>T (p.Gly183=)
c.393A>T (p.Gly131=)
c.315A>T (p.Gly105=)
n.835A>T
5g.56859886G>ACA119520115MAP3K1c.805G>A (p.Val269Ile)
c.427G>A (p.Val143Ile)
c.550G>A (p.Val184Ile)
c.394G>A (p.Val132Ile)
c.316G>A (p.Val106Ile)
n.836G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859886G>CCA359802659MAP3K1c.805G>C (p.Val269Leu)
c.427G>C (p.Val143Leu)
c.550G>C (p.Val184Leu)
c.394G>C (p.Val132Leu)
c.316G>C (p.Val106Leu)
n.836G>C
 dbSNP
5g.56859886G=CA1548129257MAP3K1c.805G= (p.Val269=)
c.427G= (p.Val143=)
c.550G= (p.Val184=)
c.394G= (p.Val132=)
c.316G= (p.Val106=)
n.836G=
5g.56859886G>TCA359802658MAP3K1c.805G>T (p.Val269Leu)
c.427G>T (p.Val143Leu)
c.550G>T (p.Val184Leu)
c.394G>T (p.Val132Leu)
c.316G>T (p.Val106Leu)
n.836G>T
5g.56859887T>ACA359802660MAP3K1c.806T>A (p.Val269Glu)
c.428T>A (p.Val143Glu)
c.551T>A (p.Val184Glu)
c.395T>A (p.Val132Glu)
c.317T>A (p.Val106Glu)
n.837T>A
 COSMIC
5g.56859887T>CCA359802661MAP3K1c.806T>C (p.Val269Ala)
c.428T>C (p.Val143Ala)
c.551T>C (p.Val184Ala)
c.395T>C (p.Val132Ala)
c.317T>C (p.Val106Ala)
n.837T>C
5g.56859887T>GCA359802662MAP3K1c.806T>G (p.Val269Gly)
c.428T>G (p.Val143Gly)
c.551T>G (p.Val184Gly)
c.395T>G (p.Val132Gly)
c.317T>G (p.Val106Gly)
n.837T>G
5g.56859888A=CA1548129258MAP3K1c.807A= (p.Val269=)
c.429A= (p.Val143=)
c.552A= (p.Val184=)
c.396A= (p.Val132=)
c.318A= (p.Val106=)
n.838A=
5g.56859888A>CCA444391765MAP3K1c.807A>C (p.Val269=)
c.429A>C (p.Val143=)
c.552A>C (p.Val184=)
c.396A>C (p.Val132=)
c.318A>C (p.Val106=)
n.838A>C
5g.56859888A>GCA444391766MAP3K1c.807A>G (p.Val269=)
c.429A>G (p.Val143=)
c.552A>G (p.Val184=)
c.396A>G (p.Val132=)
c.318A>G (p.Val106=)
n.838A>G
 dbSNP gnomAD v4
5g.56859888A>TCA444391767MAP3K1c.807A>T (p.Val269=)
c.429A>T (p.Val143=)
c.552A>T (p.Val184=)
c.396A>T (p.Val132=)
c.318A>T (p.Val106=)
n.838A>T
5g.56859888_56859889delCA645563848MAP3K1c.807_808del (p.Arg270GlufsTer?)
c.429_430del (p.Arg144GlufsTer?)
c.552_553del (p.Arg185GlufsTer?)
c.396_397del (p.Arg133GlufsTer?)
c.318_319del (p.Arg107GlufsTer?)
n.838_839del
 COSMIC
5g.56859889A=CA1548129259MAP3K1c.808A= (p.Arg270=)
c.430A= (p.Arg144=)
c.553A= (p.Arg185=)
c.397A= (p.Arg133=)
c.319A= (p.Arg107=)
n.839A=
5g.56859889A>CCA444391768MAP3K1c.808A>C (p.Arg270=)
c.430A>C (p.Arg144=)
c.553A>C (p.Arg185=)
c.397A>C (p.Arg133=)
c.319A>C (p.Arg107=)
n.839A>C
 gnomAD v4
5g.56859889A>GCA359802663MAP3K1c.808A>G (p.Arg270Gly)
c.430A>G (p.Arg144Gly)
c.553A>G (p.Arg185Gly)
c.397A>G (p.Arg133Gly)
c.319A>G (p.Arg107Gly)
n.839A>G
 dbSNP gnomAD v3 gnomAD v4
5g.56859889A>TCA359802664MAP3K1c.808A>T (p.Arg270Trp)
c.430A>T (p.Arg144Trp)
c.553A>T (p.Arg185Trp)
c.397A>T (p.Arg133Trp)
c.319A>T (p.Arg107Trp)
n.839A>T

Number of alleles fetched