Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
5g.56859890G>ACA359802665MAP3K1c.809G>A (p.Arg270Lys)
c.431G>A (p.Arg144Lys)
c.554G>A (p.Arg185Lys)
c.398G>A (p.Arg133Lys)
c.320G>A (p.Arg107Lys)
n.840G>A
gnomAD v4
5g.56859890G>CCA359802666MAP3K1c.809G>C (p.Arg270Thr)
c.431G>C (p.Arg144Thr)
c.554G>C (p.Arg185Thr)
c.398G>C (p.Arg133Thr)
c.320G>C (p.Arg107Thr)
n.840G>C
5g.56859890G>TCA359802667MAP3K1c.809G>T (p.Arg270Met)
c.431G>T (p.Arg144Met)
c.554G>T (p.Arg185Met)
c.398G>T (p.Arg133Met)
c.320G>T (p.Arg107Met)
n.840G>T
5g.56859891G>ACA444391769MAP3K1c.810G>A (p.Arg270=)
c.432G>A (p.Arg144=)
c.555G>A (p.Arg185=)
c.399G>A (p.Arg133=)
c.321G>A (p.Arg107=)
n.841G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859891G>CCA359802668MAP3K1c.810G>C (p.Arg270Ser)
c.432G>C (p.Arg144Ser)
c.555G>C (p.Arg185Ser)
c.399G>C (p.Arg133Ser)
c.321G>C (p.Arg107Ser)
n.841G>C
5g.56859891G=CA1548129260MAP3K1c.810G= (p.Arg270=)
c.432G= (p.Arg144=)
c.555G= (p.Arg185=)
c.399G= (p.Arg133=)
c.321G= (p.Arg107=)
n.841G=
5g.56859891G>TCA359802669MAP3K1c.810G>T (p.Arg270Ser)
c.432G>T (p.Arg144Ser)
c.555G>T (p.Arg185Ser)
c.399G>T (p.Arg133Ser)
c.321G>T (p.Arg107Ser)
n.841G>T
gnomAD v4
5g.56859892A>CCA444391770MAP3K1c.811A>C (p.Arg271=)
c.433A>C (p.Arg145=)
c.556A>C (p.Arg186=)
c.400A>C (p.Arg134=)
c.322A>C (p.Arg108=)
n.842A>C
5g.56859892A>GCA359802670MAP3K1c.811A>G (p.Arg271Gly)
c.433A>G (p.Arg145Gly)
c.556A>G (p.Arg186Gly)
c.400A>G (p.Arg134Gly)
c.322A>G (p.Arg108Gly)
n.842A>G
5g.56859892A>TCA359802671MAP3K1c.811A>T (p.Arg271Ter)
c.433A>T (p.Arg145Ter)
c.556A>T (p.Arg186Ter)
c.400A>T (p.Arg134Ter)
c.322A>T (p.Arg108Ter)
n.842A>T
5g.56859893G>ACA359802672MAP3K1c.812G>A (p.Arg271Lys)
c.434G>A (p.Arg145Lys)
c.557G>A (p.Arg186Lys)
c.401G>A (p.Arg134Lys)
c.323G>A (p.Arg108Lys)
n.843G>A
dbSNP
5g.56859893G>CCA359802674MAP3K1c.812G>C (p.Arg271Thr)
c.434G>C (p.Arg145Thr)
c.557G>C (p.Arg186Thr)
c.401G>C (p.Arg134Thr)
c.323G>C (p.Arg108Thr)
n.843G>C
gnomAD v4
5g.56859893G=CA1548129261MAP3K1c.812G= (p.Arg271=)
c.434G= (p.Arg145=)
c.557G= (p.Arg186=)
c.401G= (p.Arg134=)
c.323G= (p.Arg108=)
n.843G=
5g.56859893G>TCA359802673MAP3K1c.812G>T (p.Arg271Ile)
c.434G>T (p.Arg145Ile)
c.557G>T (p.Arg186Ile)
c.401G>T (p.Arg134Ile)
c.323G>T (p.Arg108Ile)
n.843G>T
5g.56859894A>CCA359802675MAP3K1c.813A>C (p.Arg271Ser)
c.435A>C (p.Arg145Ser)
c.558A>C (p.Arg186Ser)
c.402A>C (p.Arg134Ser)
c.324A>C (p.Arg108Ser)
n.844A>C
5g.56859894A>GCA444391771MAP3K1c.813A>G (p.Arg271=)
c.435A>G (p.Arg145=)
c.558A>G (p.Arg186=)
c.402A>G (p.Arg134=)
c.324A>G (p.Arg108=)
n.844A>G
5g.56859894A>TCA359802676MAP3K1c.813A>T (p.Arg271Ser)
c.435A>T (p.Arg145Ser)
c.558A>T (p.Arg186Ser)
c.402A>T (p.Arg134Ser)
c.324A>T (p.Arg108Ser)
n.844A>T
5g.56859898delCA2708944151MAP3K1c.817del (p.Arg273GlufsTer?)
c.439del (p.Arg147GlufsTer?)
c.562del (p.Arg188GlufsTer?)
c.406del (p.Arg136GlufsTer?)
c.328del (p.Arg110GlufsTer?)
n.848del
dbSNP
5g.56859897_56859898delCA645563849MAP3K1c.816_817del (p.Arg273SerfsTer27)
c.438_439del (p.Arg147SerfsTer27)
c.561_562del (p.Arg188SerfsTer27)
c.405_406del (p.Arg136SerfsTer27)
c.327_328del (p.Arg110SerfsTer27)
n.847_848del
gnomAD v4 COSMIC
5g.56859895A>CCA359802677MAP3K1c.814A>C (p.Lys272Gln)
c.436A>C (p.Lys146Gln)
c.559A>C (p.Lys187Gln)
c.403A>C (p.Lys135Gln)
c.325A>C (p.Lys109Gln)
n.845A>C
5g.56859895A>GCA359802678MAP3K1c.814A>G (p.Lys272Glu)
c.436A>G (p.Lys146Glu)
c.559A>G (p.Lys187Glu)
c.403A>G (p.Lys135Glu)
c.325A>G (p.Lys109Glu)
n.845A>G
5g.56859895A>TCA359802679MAP3K1c.814A>T (p.Lys272Ter)
c.436A>T (p.Lys146Ter)
c.559A>T (p.Lys187Ter)
c.403A>T (p.Lys135Ter)
c.325A>T (p.Lys109Ter)
n.845A>T
5g.56859896A>CCA359802680MAP3K1c.815A>C (p.Lys272Thr)
c.437A>C (p.Lys146Thr)
c.560A>C (p.Lys187Thr)
c.404A>C (p.Lys135Thr)
c.326A>C (p.Lys109Thr)
n.846A>C
5g.56859896A>GCA359802681MAP3K1c.815A>G (p.Lys272Arg)
c.437A>G (p.Lys146Arg)
c.560A>G (p.Lys187Arg)
c.404A>G (p.Lys135Arg)
c.326A>G (p.Lys109Arg)
n.846A>G
5g.56859896A>TCA359802682MAP3K1c.815A>T (p.Lys272Ile)
c.437A>T (p.Lys146Ile)
c.560A>T (p.Lys187Ile)
c.404A>T (p.Lys135Ile)
c.326A>T (p.Lys109Ile)
n.846A>T
5g.56859897A>CCA359802683MAP3K1c.816A>C (p.Lys272Asn)
c.438A>C (p.Lys146Asn)
c.561A>C (p.Lys187Asn)
c.405A>C (p.Lys135Asn)
c.327A>C (p.Lys109Asn)
n.847A>C
gnomAD v4
5g.56859897A>GCA444391772MAP3K1c.816A>G (p.Lys272=)
c.438A>G (p.Lys146=)
c.561A>G (p.Lys187=)
c.405A>G (p.Lys135=)
c.327A>G (p.Lys109=)
n.847A>G
5g.56859897A>TCA359802684MAP3K1c.816A>T (p.Lys272Asn)
c.438A>T (p.Lys146Asn)
c.561A>T (p.Lys187Asn)
c.405A>T (p.Lys135Asn)
c.327A>T (p.Lys109Asn)
n.847A>T
5g.56859898A>CCA444391773MAP3K1c.817A>C (p.Arg273=)
c.439A>C (p.Arg147=)
c.562A>C (p.Arg188=)
c.406A>C (p.Arg136=)
c.328A>C (p.Arg110=)
n.848A>C
5g.56859898A>GCA359802685MAP3K1c.817A>G (p.Arg273Gly)
c.439A>G (p.Arg147Gly)
c.562A>G (p.Arg188Gly)
c.406A>G (p.Arg136Gly)
c.328A>G (p.Arg110Gly)
n.848A>G
5g.56859898A>TCA359802686MAP3K1c.817A>T (p.Arg273Ter)
c.439A>T (p.Arg147Ter)
c.562A>T (p.Arg188Ter)
c.406A>T (p.Arg136Ter)
c.328A>T (p.Arg110Ter)
n.848A>T
dbSNP
5g.56859900_56859901delCA645563850MAP3K1c.819_820del (p.Arg273SerfsTer27)
c.441_442del (p.Arg147SerfsTer27)
c.564_565del (p.Arg188SerfsTer27)
c.408_409del (p.Arg136SerfsTer27)
c.330_331del (p.Arg110SerfsTer27)
n.850_851del
COSMIC
5g.56859899G>ACA359802689MAP3K1c.818G>A (p.Arg273Lys)
c.440G>A (p.Arg147Lys)
c.563G>A (p.Arg188Lys)
c.407G>A (p.Arg136Lys)
c.329G>A (p.Arg110Lys)
n.849G>A
5g.56859899G>CCA359802687MAP3K1c.818G>C (p.Arg273Thr)
c.440G>C (p.Arg147Thr)
c.563G>C (p.Arg188Thr)
c.407G>C (p.Arg136Thr)
c.329G>C (p.Arg110Thr)
n.849G>C
gnomAD v4
5g.56859899G=CA1548129262MAP3K1c.818G= (p.Arg273=)
c.440G= (p.Arg147=)
c.563G= (p.Arg188=)
c.407G= (p.Arg136=)
c.329G= (p.Arg110=)
n.849G=
5g.56859899G>TCA359802688MAP3K1c.818G>T (p.Arg273Ile)
c.440G>T (p.Arg147Ile)
c.563G>T (p.Arg188Ile)
c.407G>T (p.Arg136Ile)
c.329G>T (p.Arg110Ile)
n.849G>T
dbSNP
5g.56859900A>CCA359802690MAP3K1c.819A>C (p.Arg273Ser)
c.441A>C (p.Arg147Ser)
c.564A>C (p.Arg188Ser)
c.408A>C (p.Arg136Ser)
c.330A>C (p.Arg110Ser)
n.850A>C
5g.56859900A>GCA444391774MAP3K1c.819A>G (p.Arg273=)
c.441A>G (p.Arg147=)
c.564A>G (p.Arg188=)
c.408A>G (p.Arg136=)
c.330A>G (p.Arg110=)
n.850A>G
gnomAD v4
5g.56859900A>TCA359802691MAP3K1c.819A>T (p.Arg273Ser)
c.441A>T (p.Arg147Ser)
c.564A>T (p.Arg188Ser)
c.408A>T (p.Arg136Ser)
c.330A>T (p.Arg110Ser)
n.850A>T
5g.56859901G>ACA359802692MAP3K1c.820G>A (p.Val274Ile)
c.442G>A (p.Val148Ile)
c.565G>A (p.Val189Ile)
c.409G>A (p.Val137Ile)
c.331G>A (p.Val111Ile)
n.851G>A
dbSNP gnomAD v4
5g.56859901G>CCA359802693MAP3K1c.820G>C (p.Val274Leu)
c.442G>C (p.Val148Leu)
c.565G>C (p.Val189Leu)
c.409G>C (p.Val137Leu)
c.331G>C (p.Val111Leu)
n.851G>C
5g.56859901G>TCA359802694MAP3K1c.820G>T (p.Val274Phe)
c.442G>T (p.Val148Phe)
c.565G>T (p.Val189Phe)
c.409G>T (p.Val137Phe)
c.331G>T (p.Val111Phe)
n.851G>T
5g.56859902T>ACA359802695MAP3K1c.821T>A (p.Val274Asp)
c.443T>A (p.Val148Asp)
c.566T>A (p.Val189Asp)
c.410T>A (p.Val137Asp)
c.332T>A (p.Val111Asp)
n.852T>A
5g.56859902T>CCA359802696MAP3K1c.821T>C (p.Val274Ala)
c.443T>C (p.Val148Ala)
c.566T>C (p.Val189Ala)
c.410T>C (p.Val137Ala)
c.332T>C (p.Val111Ala)
n.852T>C
5g.56859902T>GCA359802697MAP3K1c.821T>G (p.Val274Gly)
c.443T>G (p.Val148Gly)
c.566T>G (p.Val189Gly)
c.410T>G (p.Val137Gly)
c.332T>G (p.Val111Gly)
n.852T>G
5g.56859903T>ACA444391775MAP3K1c.822T>A (p.Val274=)
c.444T>A (p.Val148=)
c.567T>A (p.Val189=)
c.411T>A (p.Val137=)
c.333T>A (p.Val111=)
n.853T>A
5g.56859903T>CCA444391776MAP3K1c.822T>C (p.Val274=)
c.444T>C (p.Val148=)
c.567T>C (p.Val189=)
c.411T>C (p.Val137=)
c.333T>C (p.Val111=)
n.853T>C
5g.56859903T>GCA444391777MAP3K1c.822T>G (p.Val274=)
c.444T>G (p.Val148=)
c.567T>G (p.Val189=)
c.411T>G (p.Val137=)
c.333T>G (p.Val111=)
n.853T>G
gnomAD v4
5g.56859904T>ACA359802698MAP3K1c.823T>A (p.Ser275Thr)
c.445T>A (p.Ser149Thr)
c.568T>A (p.Ser190Thr)
c.412T>A (p.Ser138Thr)
c.334T>A (p.Ser112Thr)
n.854T>A
5g.56859904T>CCA359802699MAP3K1c.823T>C (p.Ser275Pro)
c.445T>C (p.Ser149Pro)
c.568T>C (p.Ser190Pro)
c.412T>C (p.Ser138Pro)
c.334T>C (p.Ser112Pro)
n.854T>C
gnomAD v4
5g.56859904T>GCA359802700MAP3K1c.823T>G (p.Ser275Ala)
c.445T>G (p.Ser149Ala)
c.568T>G (p.Ser190Ala)
c.412T>G (p.Ser138Ala)
c.334T>G (p.Ser112Ala)
n.854T>G
5g.56859904_56859905delinsCTCA2695204486MAP3K1c.823_824delinsCT (p.Ser275Leu)
c.445_446delinsCT (p.Ser149Leu)
c.568_569delinsCT (p.Ser190Leu)
c.412_413delinsCT (p.Ser138Leu)
c.334_335delinsCT (p.Ser112Leu)
n.854_855delinsCT
5g.56859905C>ACA359802701MAP3K1c.824C>A (p.Ser275Tyr)
c.446C>A (p.Ser149Tyr)
c.569C>A (p.Ser190Tyr)
c.413C>A (p.Ser138Tyr)
c.335C>A (p.Ser112Tyr)
n.855C>A
5g.56859905C>GCA359802703MAP3K1c.824C>G (p.Ser275Cys)
c.446C>G (p.Ser149Cys)
c.569C>G (p.Ser190Cys)
c.413C>G (p.Ser138Cys)
c.335C>G (p.Ser112Cys)
n.855C>G
5g.56859905C>TCA359802702MAP3K1c.824C>T (p.Ser275Phe)
c.446C>T (p.Ser149Phe)
c.569C>T (p.Ser190Phe)
c.413C>T (p.Ser138Phe)
c.335C>T (p.Ser112Phe)
n.855C>T
gnomAD v4 COSMIC
5g.56859908delCA2673908359MAP3K1c.827del (p.Pro276GlnfsTer?)
c.449del (p.Pro150GlnfsTer?)
c.572del (p.Pro191GlnfsTer?)
c.416del (p.Pro139GlnfsTer?)
c.338del (p.Pro113GlnfsTer?)
n.858del
gnomAD v4
5g.56859906C>ACA444391778MAP3K1c.825C>A (p.Ser275=)
c.447C>A (p.Ser149=)
c.570C>A (p.Ser190=)
c.414C>A (p.Ser138=)
c.336C>A (p.Ser112=)
n.856C>A
5g.56859906C=CA1548129263MAP3K1c.825C= (p.Ser275=)
c.447C= (p.Ser149=)
c.570C= (p.Ser190=)
c.414C= (p.Ser138=)
c.336C= (p.Ser112=)
n.856C=
5g.56859906C>GCA444391779MAP3K1c.825C>G (p.Ser275=)
c.447C>G (p.Ser149=)
c.570C>G (p.Ser190=)
c.414C>G (p.Ser138=)
c.336C>G (p.Ser112=)
n.856C>G
5g.56859906C>TCA444391780MAP3K1c.825C>T (p.Ser275=)
c.447C>T (p.Ser149=)
c.570C>T (p.Ser190=)
c.414C>T (p.Ser138=)
c.336C>T (p.Ser112=)
n.856C>T
dbSNP gnomAD v3 gnomAD v4
5g.56859907C>ACA359802704MAP3K1c.826C>A (p.Pro276Thr)
c.448C>A (p.Pro150Thr)
c.571C>A (p.Pro191Thr)
c.415C>A (p.Pro139Thr)
c.337C>A (p.Pro113Thr)
n.857C>A
5g.56859907C>GCA359802706MAP3K1c.826C>G (p.Pro276Ala)
c.448C>G (p.Pro150Ala)
c.571C>G (p.Pro191Ala)
c.415C>G (p.Pro139Ala)
c.337C>G (p.Pro113Ala)
n.857C>G
5g.56859907C>TCA359802705MAP3K1c.826C>T (p.Pro276Ser)
c.448C>T (p.Pro150Ser)
c.571C>T (p.Pro191Ser)
c.415C>T (p.Pro139Ser)
c.337C>T (p.Pro113Ser)
n.857C>T
dbSNP gnomAD v4
5g.56859908C>ACA359802707MAP3K1c.827C>A (p.Pro276Gln)
c.449C>A (p.Pro150Gln)
c.572C>A (p.Pro191Gln)
c.416C>A (p.Pro139Gln)
c.338C>A (p.Pro113Gln)
n.858C>A
gnomAD v4
5g.56859908C>GCA359802709MAP3K1c.827C>G (p.Pro276Arg)
c.449C>G (p.Pro150Arg)
c.572C>G (p.Pro191Arg)
c.416C>G (p.Pro139Arg)
c.338C>G (p.Pro113Arg)
n.858C>G
5g.56859908C>TCA359802708MAP3K1c.827C>T (p.Pro276Leu)
c.449C>T (p.Pro150Leu)
c.572C>T (p.Pro191Leu)
c.416C>T (p.Pro139Leu)
c.338C>T (p.Pro113Leu)
n.858C>T
5g.56859909A>CCA444391781MAP3K1c.828A>C (p.Pro276=)
c.450A>C (p.Pro150=)
c.573A>C (p.Pro191=)
c.417A>C (p.Pro139=)
c.339A>C (p.Pro113=)
n.859A>C
5g.56859909A>GCA444391782MAP3K1c.828A>G (p.Pro276=)
c.450A>G (p.Pro150=)
c.573A>G (p.Pro191=)
c.417A>G (p.Pro139=)
c.339A>G (p.Pro113=)
n.859A>G
gnomAD v4
5g.56859909A>TCA444391783MAP3K1c.828A>T (p.Pro276=)
c.450A>T (p.Pro150=)
c.573A>T (p.Pro191=)
c.417A>T (p.Pro139=)
c.339A>T (p.Pro113=)
n.859A>T
5g.56859910G>ACA359802710MAP3K1c.829G>A (p.Val277Met)
c.451G>A (p.Val151Met)
c.574G>A (p.Val192Met)
c.418G>A (p.Val140Met)
c.340G>A (p.Val114Met)
n.860G>A
gnomAD v4
5g.56859910G>CCA359802711MAP3K1c.829G>C (p.Val277Leu)
c.451G>C (p.Val151Leu)
c.574G>C (p.Val192Leu)
c.418G>C (p.Val140Leu)
c.340G>C (p.Val114Leu)
n.860G>C
dbSNP
5g.56859910G=CA1548129264MAP3K1c.829G= (p.Val277=)
c.451G= (p.Val151=)
c.574G= (p.Val192=)
c.418G= (p.Val140=)
c.340G= (p.Val114=)
n.860G=
5g.56859910G>TCA359802712MAP3K1c.829G>T (p.Val277Leu)
c.451G>T (p.Val151Leu)
c.574G>T (p.Val192Leu)
c.418G>T (p.Val140Leu)
c.340G>T (p.Val114Leu)
n.860G>T
gnomAD v4
5g.56859911T>ACA359802713MAP3K1c.830T>A (p.Val277Glu)
c.452T>A (p.Val151Glu)
c.575T>A (p.Val192Glu)
c.419T>A (p.Val140Glu)
c.341T>A (p.Val114Glu)
n.861T>A
5g.56859911T>CCA359802714MAP3K1c.830T>C (p.Val277Ala)
c.452T>C (p.Val151Ala)
c.575T>C (p.Val192Ala)
c.419T>C (p.Val140Ala)
c.341T>C (p.Val114Ala)
n.861T>C
5g.56859911T>GCA359802715MAP3K1c.830T>G (p.Val277Gly)
c.452T>G (p.Val151Gly)
c.575T>G (p.Val192Gly)
c.419T>G (p.Val140Gly)
c.341T>G (p.Val114Gly)
n.861T>G
5g.56859912G>ACA444391784MAP3K1c.831G>A (p.Val277=)
c.453G>A (p.Val151=)
c.576G>A (p.Val192=)
c.420G>A (p.Val140=)
c.342G>A (p.Val114=)
n.862G>A
5g.56859912G>CCA3272610MAP3K1c.831G>C (p.Val277=)
c.453G>C (p.Val151=)
c.576G>C (p.Val192=)
c.420G>C (p.Val140=)
c.342G>C (p.Val114=)
n.862G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859912G=CA1548129265MAP3K1c.831G= (p.Val277=)
c.453G= (p.Val151=)
c.576G= (p.Val192=)
c.420G= (p.Val140=)
c.342G= (p.Val114=)
n.862G=
5g.56859912G>TCA444391785MAP3K1c.831G>T (p.Val277=)
c.453G>T (p.Val151=)
c.576G>T (p.Val192=)
c.420G>T (p.Val140=)
c.342G>T (p.Val114=)
n.862G>T
5g.56859913C>ACA359802716MAP3K1c.832C>A (p.Pro278Thr)
c.454C>A (p.Pro152Thr)
c.577C>A (p.Pro193Thr)
c.421C>A (p.Pro141Thr)
c.343C>A (p.Pro115Thr)
n.863C>A
gnomAD v4
5g.56859913C=CA1548129266MAP3K1c.832C= (p.Pro278=)
c.454C= (p.Pro152=)
c.577C= (p.Pro193=)
c.421C= (p.Pro141=)
c.343C= (p.Pro115=)
n.863C=
5g.56859913C>GCA359802717MAP3K1c.832C>G (p.Pro278Ala)
c.454C>G (p.Pro152Ala)
c.577C>G (p.Pro193Ala)
c.421C>G (p.Pro141Ala)
c.343C>G (p.Pro115Ala)
n.863C>G
5g.56859913C>TCA3272611MAP3K1c.832C>T (p.Pro278Ser)
c.454C>T (p.Pro152Ser)
c.577C>T (p.Pro193Ser)
c.421C>T (p.Pro141Ser)
c.343C>T (p.Pro115Ser)
n.863C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859914C>ACA359802718MAP3K1c.833C>A (p.Pro278His)
c.455C>A (p.Pro152His)
c.578C>A (p.Pro193His)
c.422C>A (p.Pro141His)
c.344C>A (p.Pro115His)
n.864C>A
dbSNP gnomAD v4
5g.56859914C>GCA359802719MAP3K1c.833C>G (p.Pro278Arg)
c.455C>G (p.Pro152Arg)
c.578C>G (p.Pro193Arg)
c.422C>G (p.Pro141Arg)
c.344C>G (p.Pro115Arg)
n.864C>G
5g.56859914C>TCA359802720MAP3K1c.833C>T (p.Pro278Leu)
c.455C>T (p.Pro152Leu)
c.578C>T (p.Pro193Leu)
c.422C>T (p.Pro141Leu)
c.344C>T (p.Pro115Leu)
n.864C>T
5g.56859915T>ACA444391786MAP3K1c.834T>A (p.Pro278=)
c.456T>A (p.Pro152=)
c.579T>A (p.Pro193=)
c.423T>A (p.Pro141=)
c.345T>A (p.Pro115=)
n.865T>A
5g.56859915T>CCA119520119MAP3K1c.834T>C (p.Pro278=)
c.456T>C (p.Pro152=)
c.579T>C (p.Pro193=)
c.423T>C (p.Pro141=)
c.345T>C (p.Pro115=)
n.865T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859915T>GCA444391787MAP3K1c.834T>G (p.Pro278=)
c.456T>G (p.Pro152=)
c.579T>G (p.Pro193=)
c.423T>G (p.Pro141=)
c.345T>G (p.Pro115=)
n.865T>G
5g.56859915T=CA1548129267MAP3K1c.834T= (p.Pro278=)
c.456T= (p.Pro152=)
c.579T= (p.Pro193=)
c.423T= (p.Pro141=)
c.345T= (p.Pro115=)
n.865T=
5g.56859916G>ACA359802721MAP3K1c.834+1G>A (n.834+1G>A)
c.456+1G>A (n.456+1G>A)
c.579+1G>A (n.579+1G>A)
c.423+1G>A (n.423+1G>A)
c.345+1G>A (n.345+1G>A)
n.865+1G>A
dbSNP
5g.56859916G>CCA359802722MAP3K1c.834+1G>C (n.834+1G>C)
c.456+1G>C (n.456+1G>C)
c.579+1G>C (n.579+1G>C)
c.423+1G>C (n.423+1G>C)
c.345+1G>C (n.345+1G>C)
n.865+1G>C
5g.56859916G>TCA359802723MAP3K1c.834+1G>T (n.834+1G>T)
c.456+1G>T (n.456+1G>T)
c.579+1G>T (n.579+1G>T)
c.423+1G>T (n.423+1G>T)
c.345+1G>T (n.345+1G>T)
n.865+1G>T
5g.56859917T>ACA359802724MAP3K1c.834+2T>A (n.834+2T>A)
c.456+2T>A (n.456+2T>A)
c.579+2T>A (n.579+2T>A)
c.423+2T>A (n.423+2T>A)
c.345+2T>A (n.345+2T>A)
n.865+2T>A
5g.56859917T>CCA359802725MAP3K1c.834+2T>C (n.834+2T>C)
c.456+2T>C (n.456+2T>C)
c.579+2T>C (n.579+2T>C)
c.423+2T>C (n.423+2T>C)
c.345+2T>C (n.345+2T>C)
n.865+2T>C
5g.56859917T>GCA359802726MAP3K1c.834+2T>G (n.834+2T>G)
c.456+2T>G (n.456+2T>G)
c.579+2T>G (n.579+2T>G)
c.423+2T>G (n.423+2T>G)
c.345+2T>G (n.345+2T>G)
n.865+2T>G
5g.56859918A=CA1548129268MAP3K1c.834+3A= (n.834+3A=)
c.456+3A= (n.456+3A=)
c.579+3A= (n.579+3A=)
c.423+3A= (n.423+3A=)
c.345+3A= (n.345+3A=)
n.865+3A=
5g.56859918A>GCA812365363MAP3K1c.834+3A>G (n.834+3A>G)
c.456+3A>G (n.456+3A>G)
c.579+3A>G (n.579+3A>G)
c.423+3A>G (n.423+3A>G)
c.345+3A>G (n.345+3A>G)
n.865+3A>G
dbSNP
5g.56859919_56859925delinsAGTTAATCA1548129269MAP3K1c.834+4_834+10delinsAGTTAAT (n.834+4_834+10delinsAGTTAAT)
c.456+4_456+10delinsAGTTAAT (n.456+4_456+10delinsAGTTAAT)
c.579+4_579+10delinsAGTTAAT (n.579+4_579+10delinsAGTTAAT)
c.423+4_423+10delinsAGTTAAT (n.423+4_423+10delinsAGTTAAT)
c.345+4_345+10delinsAGTTAAT (n.345+4_345+10delinsAGTTAAT)
n.865+4_865+10delinsAGTTAAT
5g.56859920G>ACA2708944222MAP3K1c.834+5G>A (n.834+5G>A)
c.456+5G>A (n.456+5G>A)
c.579+5G>A (n.579+5G>A)
c.423+5G>A (n.423+5G>A)
c.345+5G>A (n.345+5G>A)
n.865+5G>A
dbSNP
5g.56859920G>TCA2566658773MAP3K1c.834+5G>T (n.834+5G>T)
c.456+5G>T (n.456+5G>T)
c.579+5G>T (n.579+5G>T)
c.423+5G>T (n.423+5G>T)
c.345+5G>T (n.345+5G>T)
n.865+5G>T
5g.56859924_56859929delCA559802751MAP3K1c.834+9_834+14del (n.834+9_834+14del)
c.456+9_456+14del (n.456+9_456+14del)
c.579+9_579+14del (n.579+9_579+14del)
c.423+9_423+14del (n.423+9_423+14del)
c.345+9_345+14del (n.345+9_345+14del)
n.865+9_865+14del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859924dupCA2673908360MAP3K1c.834+9dup (n.834+9dup)
c.456+9dup (n.456+9dup)
c.579+9dup (n.579+9dup)
c.423+9dup (n.423+9dup)
c.345+9dup (n.345+9dup)
n.865+9dup
gnomAD v4
5g.56859924A=CA1548129270MAP3K1c.834+9A= (n.834+9A=)
c.456+9A= (n.456+9A=)
c.579+9A= (n.579+9A=)
c.423+9A= (n.423+9A=)
c.345+9A= (n.345+9A=)
n.865+9A=
5g.56859924A>GCA3272612MAP3K1c.834+9A>G (n.834+9A>G)
c.456+9A>G (n.456+9A>G)
c.579+9A>G (n.579+9A>G)
c.423+9A>G (n.423+9A>G)
c.345+9A>G (n.345+9A>G)
n.865+9A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859926G>ACA2673908361MAP3K1c.834+11G>A (n.834+11G>A)
c.456+11G>A (n.456+11G>A)
c.579+11G>A (n.579+11G>A)
c.423+11G>A (n.423+11G>A)
c.345+11G>A (n.345+11G>A)
n.865+11G>A
gnomAD v4
5g.56859927_56859933delinsTTACAACCA1548129271MAP3K1c.834+12_834+18delinsTTACAAC (n.834+12_834+18delinsTTACAAC)
c.456+12_456+18delinsTTACAAC (n.456+12_456+18delinsTTACAAC)
c.579+12_579+18delinsTTACAAC (n.579+12_579+18delinsTTACAAC)
c.423+12_423+18delinsTTACAAC (n.423+12_423+18delinsTTACAAC)
c.345+12_345+18delinsTTACAAC (n.345+12_345+18delinsTTACAAC)
n.865+12_865+18delinsTTACAAC

Number of alleles fetched