Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.56859833_56859854del | CA645563847 | MAP3K1 | c.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 |
5 | g.56859832_56859835delinsCCTT | CA1548129229 | MAP3K1 | c.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 | |
5 | g.56859835_56859837del | CA1548129230 | MAP3K1 | c.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 |
5 | g.56859834T>A | CA444391719 | MAP3K1 | c.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 | |
5 | g.56859834T>C | CA444391720 | MAP3K1 | c.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 | |
5 | g.56859834T>G | CA444391721 | MAP3K1 | c.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 | |
5 | g.56859835T>A | CA359802557 | MAP3K1 | c.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 | |
5 | g.56859835T>C | CA359802558 | MAP3K1 | c.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 |
5 | g.56859835T>G | CA359802559 | MAP3K1 | c.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 | |
5 | g.56859835_56859838delinsTCTC | CA1548129231 | MAP3K1 | c.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 | |
5 | g.56859836C>A | CA359802560 | MAP3K1 | c.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 | |
5 | g.56859836C>G | CA359802561 | MAP3K1 | c.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 | |
5 | g.56859836C>T | CA359802562 | MAP3K1 | c.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 | |
5 | g.56859838_56859840del | CA444391722 | MAP3K1 | c.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 |
5 | g.56859837T>A | CA444391723 | MAP3K1 | c.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 | |
5 | g.56859837T>C | CA444391724 | MAP3K1 | c.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 |
5 | g.56859837T>G | CA444391725 | MAP3K1 | c.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 | |
5 | g.56859837T= | CA1548129232 | MAP3K1 | c.756T= (p.Ser252=) c.378T= (p.Ser126=) c.501T= (p.Ser167=) c.345T= (p.Ser115=) c.267T= (p.Ser89=) n.787T= | |
5 | g.56859838C>A | CA359802563 | MAP3K1 | c.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 | |
5 | g.56859838C>G | CA359802564 | MAP3K1 | c.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 |
5 | g.56859838C>T | CA359802565 | MAP3K1 | c.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 |
5 | g.56859839C>A | CA359802566 | MAP3K1 | c.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 | |
5 | g.56859839C>G | CA359802567 | MAP3K1 | c.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 | |
5 | g.56859839C>T | CA359802568 | MAP3K1 | c.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 |
5 | g.56859840T>A | CA444391726 | MAP3K1 | c.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 | |
5 | g.56859840T>C | CA444391727 | MAP3K1 | c.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 | |
5 | g.56859840T>G | CA444391728 | MAP3K1 | c.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 | |
5 | g.56859841G>A | CA359802571 | MAP3K1 | c.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 |
5 | g.56859841G>C | CA359802570 | MAP3K1 | c.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 | |
5 | g.56859841G= | CA1548129233 | MAP3K1 | c.760G= (p.Gly254=) c.382G= (p.Gly128=) c.505G= (p.Gly169=) c.349G= (p.Gly117=) c.271G= (p.Gly91=) n.791G= | |
5 | g.56859841G>T | CA359802569 | MAP3K1 | c.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 | |
5 | g.56859842G>A | CA359802572 | MAP3K1 | c.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 | |
5 | g.56859842G>C | CA359802573 | MAP3K1 | c.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 | |
5 | g.56859842G>T | CA359802574 | MAP3K1 | c.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 | |
5 | g.56859843C>A | CA444391729 | MAP3K1 | c.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 | |
5 | g.56859843C= | CA1548129234 | MAP3K1 | c.762C= (p.Gly254=) c.384C= (p.Gly128=) c.507C= (p.Gly169=) c.351C= (p.Gly117=) c.273C= (p.Gly91=) n.793C= | |
5 | g.56859843C>G | CA444391730 | MAP3K1 | c.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 | |
5 | g.56859843C>T | CA3272603 | MAP3K1 | c.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 |
5 | g.56859844A>C | CA359802575 | MAP3K1 | c.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 | |
5 | g.56859844A>G | CA359802576 | MAP3K1 | c.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 | |
5 | g.56859844A>T | CA359802577 | MAP3K1 | c.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 | |
5 | g.56859845A= | CA1548129235 | MAP3K1 | c.764A= (p.Asn255=) c.386A= (p.Asn129=) c.509A= (p.Asn170=) c.353A= (p.Asn118=) c.275A= (p.Asn92=) n.795A= | |
5 | g.56859845A>C | CA359802578 | MAP3K1 | c.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 |
5 | g.56859845A>G | CA3272604 | MAP3K1 | c.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 |
5 | g.56859845A>T | CA359802579 | MAP3K1 | c.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 | |
5 | g.56859846C>A | CA359802580 | MAP3K1 | c.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 | |
5 | g.56859846C>G | CA359802581 | MAP3K1 | c.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 | |
5 | g.56859846C>T | CA444391731 | MAP3K1 | c.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 |
5 | g.56859847T>A | CA359802584 | MAP3K1 | c.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 | |
5 | g.56859847T>C | CA359802583 | MAP3K1 | c.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 |
5 | g.56859847T>G | CA359802582 | MAP3K1 | c.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 | |
5 | g.56859848C>A | CA3272605 | MAP3K1 | c.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 |
5 | g.56859848C= | CA1548129236 | MAP3K1 | c.767C= (p.Ser256=) c.389C= (p.Ser130=) c.512C= (p.Ser171=) c.356C= (p.Ser119=) c.278C= (p.Ser93=) n.798C= | |
5 | g.56859848C>G | CA359802585 | MAP3K1 | c.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 |
5 | g.56859848C>T | CA359802586 | MAP3K1 | c.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 | |
5 | g.56859849C>A | CA444391732 | MAP3K1 | c.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 |
5 | g.56859849C= | CA1548129237 | MAP3K1 | c.768C= (p.Ser256=) c.390C= (p.Ser130=) c.513C= (p.Ser171=) c.357C= (p.Ser119=) c.279C= (p.Ser93=) n.799C= | |
5 | g.56859849C>G | CA444391733 | MAP3K1 | c.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 | |
5 | g.56859849C>T | CA444391734 | MAP3K1 | c.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 |
5 | g.56859850C>A | CA359802587 | MAP3K1 | c.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 | |
5 | g.56859850C>G | CA359802588 | MAP3K1 | c.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 | |
5 | g.56859850C>T | CA359802589 | MAP3K1 | c.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 |
5 | g.56859851C>A | CA359802591 | MAP3K1 | c.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 |
5 | g.56859851C= | CA1548129238 | MAP3K1 | c.770C= (p.Pro257=) c.392C= (p.Pro131=) c.515C= (p.Pro172=) c.359C= (p.Pro120=) c.281C= (p.Pro94=) n.801C= | |
5 | g.56859851C>G | CA359802590 | MAP3K1 | c.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 | |
5 | g.56859851C>T | CA210011 | MAP3K1 | c.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 |
5 | g.56859852A= | CA1548129239 | MAP3K1 | c.771A= (p.Pro257=) c.393A= (p.Pro131=) c.516A= (p.Pro172=) c.360A= (p.Pro120=) c.282A= (p.Pro94=) n.802A= | |
5 | g.56859852A>C | CA444391736 | MAP3K1 | c.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 | |
5 | g.56859852A>G | CA3272606 | MAP3K1 | c.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 |
5 | g.56859852A>T | CA444391735 | MAP3K1 | c.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 | |
5 | g.56859853T>A | CA359802592 | MAP3K1 | c.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 | |
5 | g.56859853T>C | CA359802593 | MAP3K1 | c.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 | |
5 | g.56859853T>G | CA359802594 | MAP3K1 | c.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 |
5 | g.56859853_56859862delinsTCAGGTCGCA | CA1548129240 | MAP3K1 | c.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 | |
5 | g.56859854C>A | CA359802595 | MAP3K1 | c.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 | |
5 | g.56859854C>G | CA359802596 | MAP3K1 | c.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 | |
5 | g.56859854C>T | CA359802597 | MAP3K1 | c.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 |
5 | g.56859857_56859865del | CA1548129241 | MAP3K1 | c.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 |
5 | g.56859855A>C | CA444391737 | MAP3K1 | c.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 | |
5 | g.56859855A>G | CA444391738 | MAP3K1 | c.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 | |
5 | g.56859855A>T | CA444391739 | MAP3K1 | c.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 | |
5 | g.56859856G>A | CA359802598 | MAP3K1 | c.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 | |
5 | g.56859856G>C | CA359802600 | MAP3K1 | c.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 | |
5 | g.56859856G>T | CA359802599 | MAP3K1 | c.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 | |
5 | g.56859857G>A | CA359802601 | MAP3K1 | c.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 |
5 | g.56859857G>C | CA359802602 | MAP3K1 | c.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 | |
5 | g.56859857G= | CA1548129242 | MAP3K1 | c.776G= (p.Gly259=) c.398G= (p.Gly133=) c.521G= (p.Gly174=) c.365G= (p.Gly122=) c.287G= (p.Gly96=) n.807G= | |
5 | g.56859857G>T | CA359802603 | MAP3K1 | c.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 |
5 | g.56859858T>A | CA444391740 | MAP3K1 | c.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 | |
5 | g.56859858T>C | CA444391741 | MAP3K1 | c.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 |
5 | g.56859858T>G | CA444391742 | MAP3K1 | c.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 | |
5 | g.56859858dup | CA559802749 | MAP3K1 | c.777dup (p.Arg260SerfsTer?) c.399dup (p.Arg134SerfsTer?) c.522dup (p.Arg175SerfsTer?) c.366dup (p.Arg123SerfsTer?) c.288dup (p.Arg97SerfsTer?) n.808dup | dbSNP gnomAD v2 |
5 | g.56859859C>A | CA359802604 | MAP3K1 | c.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 | |
5 | g.56859859C= | CA1548129243 | MAP3K1 | c.778C= (p.Arg260=) c.400C= (p.Arg134=) c.523C= (p.Arg175=) c.367C= (p.Arg123=) c.289C= (p.Arg97=) n.809C= | |
5 | g.56859859C>G | CA359802605 | MAP3K1 | c.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 | |
5 | g.56859859C>T | CA3272607 | MAP3K1 | c.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 |
5 | g.56859860G>A | CA3272608 | MAP3K1 | c.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 |
5 | g.56859860G>C | CA359802606 | MAP3K1 | c.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 | |
5 | g.56859860G= | CA1548129244 | MAP3K1 | c.779G= (p.Arg260=) c.401G= (p.Arg134=) c.524G= (p.Arg175=) c.368G= (p.Arg123=) c.290G= (p.Arg97=) n.810G= | |
5 | g.56859860G>T | CA359802607 | MAP3K1 | c.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 | |
5 | g.56859861C>A | CA444391743 | MAP3K1 | c.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 | |
5 | g.56859861C= | CA1548129245 | MAP3K1 | c.780C= (p.Arg260=) c.402C= (p.Arg134=) c.525C= (p.Arg175=) c.369C= (p.Arg123=) c.291C= (p.Arg97=) n.811C= | |
5 | g.56859861C>G | CA444391744 | MAP3K1 | c.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 | |
5 | g.56859861C>T | CA444391745 | MAP3K1 | c.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 |
5 | g.56859862A= | CA1548129246 | MAP3K1 | c.781A= (p.Thr261=) c.403A= (p.Thr135=) c.526A= (p.Thr176=) c.370A= (p.Thr124=) c.292A= (p.Thr98=) n.812A= | |
5 | g.56859862A>C | CA359802608 | MAP3K1 | c.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 | |
5 | g.56859862A>G | CA359802609 | MAP3K1 | c.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 | |
5 | g.56859862A>T | CA359802610 | MAP3K1 | c.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 |
5 | g.56859863C>A | CA359802613 | MAP3K1 | c.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 | |
5 | g.56859863C= | CA1548129247 | MAP3K1 | c.782C= (p.Thr261=) c.404C= (p.Thr135=) c.527C= (p.Thr176=) c.371C= (p.Thr124=) c.293C= (p.Thr98=) n.813C= | |
5 | g.56859863C>G | CA359802611 | MAP3K1 | c.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 |
5 | g.56859863C>T | CA359802612 | MAP3K1 | c.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 |
5 | g.56859864A= | CA1548129248 | MAP3K1 | c.783A= (p.Thr261=) c.405A= (p.Thr135=) c.528A= (p.Thr176=) c.372A= (p.Thr124=) c.294A= (p.Thr98=) n.814A= | |
5 | g.56859864A>C | CA444391746 | MAP3K1 | c.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 |
5 | g.56859864A>G | CA3272609 | MAP3K1 | c.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 |
5 | g.56859864A>T | CA444391747 | MAP3K1 | c.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 |
5 | g.56859865G>A | CA359802614 | MAP3K1 | c.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 |
5 | g.56859865G>C | CA359802615 | MAP3K1 | c.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 | |
5 | g.56859865G>T | CA359802616 | MAP3K1 | c.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 | |
5 | g.56859866T>A | CA359802617 | MAP3K1 | c.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 | |
5 | g.56859866T>C | CA359802618 | MAP3K1 | c.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 | |
5 | g.56859866T>G | CA359802619 | MAP3K1 | c.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 |
5 | g.56859867G>A | CA444391748 | MAP3K1 | c.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 |
5 | g.56859867G>C | CA444391749 | MAP3K1 | c.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 | |
5 | g.56859867G= | CA1548129249 | MAP3K1 | c.786G= (p.Val262=) c.408G= (p.Val136=) c.531G= (p.Val177=) c.375G= (p.Val125=) c.297G= (p.Val99=) n.817G= | |
5 | g.56859867G>T | CA444391750 | MAP3K1 | c.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 |
5 | g.56859868A>C | CA359802622 | MAP3K1 | c.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 | |
5 | g.56859868A>G | CA359802620 | MAP3K1 | c.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 | |
5 | g.56859868A>T | CA359802621 | MAP3K1 | c.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 | |
5 | g.56859869A= | CA1548129250 | MAP3K1 | c.788A= (p.Lys263=) c.410A= (p.Lys137=) c.533A= (p.Lys178=) c.377A= (p.Lys126=) c.299A= (p.Lys100=) n.819A= | |
5 | g.56859869A>C | CA359802623 | MAP3K1 | c.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 | |
5 | g.56859869A>G | CA119520111 | MAP3K1 | c.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 |
5 | g.56859869A>T | CA359802624 | MAP3K1 | c.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 | |
5 | g.56859870A>C | CA359802625 | MAP3K1 | c.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 | |
5 | g.56859870A>G | CA444391751 | MAP3K1 | c.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 |
5 | g.56859870A>T | CA359802626 | MAP3K1 | c.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 | |
5 | g.56859871T>A | CA359802627 | MAP3K1 | c.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 |
5 | g.56859871T>C | CA359802629 | MAP3K1 | c.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 | |
5 | g.56859871T>G | CA359802628 | MAP3K1 | c.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 | |
5 | g.56859871T= | CA1548129251 | MAP3K1 | c.790T= (p.Ser264=) c.412T= (p.Ser138=) c.535T= (p.Ser179=) c.379T= (p.Ser127=) c.301T= (p.Ser101=) n.821T= | |
5 | g.56859872C>A | CA359802630 | MAP3K1 | c.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 | |
5 | g.56859872C>G | CA359802631 | MAP3K1 | c.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 | |
5 | g.56859872C>T | CA359802632 | MAP3K1 | c.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 | |
5 | g.56859872_56859874delinsCAG | CA1548129252 | MAP3K1 | c.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 | |
5 | g.56859873A>C | CA444391752 | MAP3K1 | c.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 | |
5 | g.56859873A>G | CA444391754 | MAP3K1 | c.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 | |
5 | g.56859873A>T | CA444391753 | MAP3K1 | c.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 | |
5 | g.56859874_56859875del | CA559802750 | MAP3K1 | c.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 |
5 | g.56859874G>A | CA359802633 | MAP3K1 | c.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 | |
5 | g.56859874G>C | CA359802634 | MAP3K1 | c.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 | |
5 | g.56859874G>T | CA359802635 | MAP3K1 | c.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 | |
5 | g.56859875A>C | CA359802636 | MAP3K1 | c.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 | |
5 | g.56859875A>G | CA359802637 | MAP3K1 | c.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 | |
5 | g.56859875A>T | CA359802638 | MAP3K1 | c.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 | |
5 | g.56859876A>C | CA359802639 | MAP3K1 | c.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 | |
5 | g.56859876A>G | CA444391755 | MAP3K1 | c.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 | |
5 | g.56859876A>T | CA359802640 | MAP3K1 | c.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 | |
5 | g.56859877T>A | CA359802641 | MAP3K1 | c.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 | |
5 | g.56859877T>C | CA359802643 | MAP3K1 | c.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 | |
5 | g.56859877T>G | CA359802642 | MAP3K1 | c.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 | |
5 | g.56859878C>A | CA359802644 | MAP3K1 | c.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 | |
5 | g.56859878C>G | CA359802645 | MAP3K1 | c.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 | |
5 | g.56859878C>T | CA359802646 | MAP3K1 | c.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 | |
5 | g.56859879T>A | CA444391756 | MAP3K1 | c.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 | |
5 | g.56859879T>C | CA444391757 | MAP3K1 | c.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 | |
5 | g.56859879T>G | CA444391758 | MAP3K1 | c.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 | |
5 | g.56859880C>A | CA359802647 | MAP3K1 | c.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 | |
5 | g.56859880C= | CA1548129253 | MAP3K1 | c.799C= (p.Pro267=) c.421C= (p.Pro141=) c.544C= (p.Pro182=) c.388C= (p.Pro130=) c.310C= (p.Pro104=) n.830C= | |
5 | g.56859880C>G | CA359802648 | MAP3K1 | c.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 | |
5 | g.56859880C>T | CA119520113 | MAP3K1 | c.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 |
5 | g.56859881C>A | CA359802651 | MAP3K1 | c.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 | |
5 | g.56859881C>G | CA359802650 | MAP3K1 | c.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 | |
5 | g.56859881C>T | CA359802649 | MAP3K1 | c.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 | |
5 | g.56859882A= | CA1548129254 | MAP3K1 | c.801A= (p.Pro267=) c.423A= (p.Pro141=) c.546A= (p.Pro182=) c.390A= (p.Pro130=) c.312A= (p.Pro104=) n.832A= | |
5 | g.56859882A>C | CA444391759 | MAP3K1 | c.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 |
5 | g.56859882A>G | CA444391760 | MAP3K1 | c.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 | |
5 | g.56859882A>T | CA444391761 | MAP3K1 | c.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 | |
5 | g.56859883G>A | CA359802652 | MAP3K1 | c.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 |
5 | g.56859883G>C | CA359802653 | MAP3K1 | c.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 | |
5 | g.56859883G>T | CA359802654 | MAP3K1 | c.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 | |
5 | g.56859884G>A | CA359802655 | MAP3K1 | c.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 |
5 | g.56859884G>C | CA359802656 | MAP3K1 | c.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 | |
5 | g.56859884G= | CA1548129255 | MAP3K1 | c.803G= (p.Gly268=) c.425G= (p.Gly142=) c.548G= (p.Gly183=) c.392G= (p.Gly131=) c.314G= (p.Gly105=) n.834G= | |
5 | g.56859884G>T | CA359802657 | MAP3K1 | c.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 |
5 | g.56859885A= | CA1548129256 | MAP3K1 | c.804A= (p.Gly268=) c.426A= (p.Gly142=) c.549A= (p.Gly183=) c.393A= (p.Gly131=) c.315A= (p.Gly105=) n.835A= | |
5 | g.56859885A>C | CA444391762 | MAP3K1 | c.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 |
5 | g.56859885A>G | CA444391763 | MAP3K1 | c.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 |
5 | g.56859885A>T | CA444391764 | MAP3K1 | c.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 | |
5 | g.56859886G>A | CA119520115 | MAP3K1 | c.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 |
5 | g.56859886G>C | CA359802659 | MAP3K1 | c.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 |
5 | g.56859886G= | CA1548129257 | MAP3K1 | c.805G= (p.Val269=) c.427G= (p.Val143=) c.550G= (p.Val184=) c.394G= (p.Val132=) c.316G= (p.Val106=) n.836G= | |
5 | g.56859886G>T | CA359802658 | MAP3K1 | c.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 | |
5 | g.56859887T>A | CA359802660 | MAP3K1 | c.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 |
5 | g.56859887T>C | CA359802661 | MAP3K1 | c.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 | |
5 | g.56859887T>G | CA359802662 | MAP3K1 | c.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 | |
5 | g.56859888A= | CA1548129258 | MAP3K1 | c.807A= (p.Val269=) c.429A= (p.Val143=) c.552A= (p.Val184=) c.396A= (p.Val132=) c.318A= (p.Val106=) n.838A= | |
5 | g.56859888A>C | CA444391765 | MAP3K1 | c.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 | |
5 | g.56859888A>G | CA444391766 | MAP3K1 | c.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 |
5 | g.56859888A>T | CA444391767 | MAP3K1 | c.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 | |
5 | g.56859888_56859889del | CA645563848 | MAP3K1 | c.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 |
5 | g.56859889A= | CA1548129259 | MAP3K1 | c.808A= (p.Arg270=) c.430A= (p.Arg144=) c.553A= (p.Arg185=) c.397A= (p.Arg133=) c.319A= (p.Arg107=) n.839A= | |
5 | g.56859889A>C | CA444391768 | MAP3K1 | c.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 |
5 | g.56859889A>G | CA359802663 | MAP3K1 | c.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 |
5 | g.56859889A>T | CA359802664 | MAP3K1 | c.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 | |
5 | g.56859890G>A | CA359802665 | MAP3K1 | c.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 |
5 | g.56859890G>C | CA359802666 | MAP3K1 | c.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 | |
5 | g.56859890G>T | CA359802667 | MAP3K1 | c.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 | |
5 | g.56859891G>A | CA444391769 | MAP3K1 | c.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 |
5 | g.56859891G>C | CA359802668 | MAP3K1 | c.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 | |
5 | g.56859891G= | CA1548129260 | MAP3K1 | c.810G= (p.Arg270=) c.432G= (p.Arg144=) c.555G= (p.Arg185=) c.399G= (p.Arg133=) c.321G= (p.Arg107=) n.841G= | |
5 | g.56859891G>T | CA359802669 | MAP3K1 | c.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 |
5 | g.56859892A>C | CA444391770 | MAP3K1 | c.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 | |
5 | g.56859892A>G | CA359802670 | MAP3K1 | c.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 | |
5 | g.56859892A>T | CA359802671 | MAP3K1 | c.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 | |
5 | g.56859893G>A | CA359802672 | MAP3K1 | c.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 |
5 | g.56859893G>C | CA359802674 | MAP3K1 | c.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 |
5 | g.56859893G= | CA1548129261 | MAP3K1 | c.812G= (p.Arg271=) c.434G= (p.Arg145=) c.557G= (p.Arg186=) c.401G= (p.Arg134=) c.323G= (p.Arg108=) n.843G= | |
5 | g.56859893G>T | CA359802673 | MAP3K1 | c.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 | |
5 | g.56859894A>C | CA359802675 | MAP3K1 | c.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 | |
5 | g.56859894A>G | CA444391771 | MAP3K1 | c.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 | |
5 | g.56859894A>T | CA359802676 | MAP3K1 | c.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 | |
5 | g.56859898del | CA2708944151 | MAP3K1 | c.817del (p.Arg273GlufsTer?) c.439del (p.Arg147GlufsTer?) c.562del (p.Arg188GlufsTer?) c.406del (p.Arg136GlufsTer?) c.328del (p.Arg110GlufsTer?) n.848del | dbSNP |
5 | g.56859897_56859898del | CA645563849 | MAP3K1 | c.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 |
5 | g.56859895A>C | CA359802677 | MAP3K1 | c.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 | |
5 | g.56859895A>G | CA359802678 | MAP3K1 | c.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 | |
5 | g.56859895A>T | CA359802679 | MAP3K1 | c.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 | |
5 | g.56859896A>C | CA359802680 | MAP3K1 | c.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 | |
5 | g.56859896A>G | CA359802681 | MAP3K1 | c.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 | |
5 | g.56859896A>T | CA359802682 | MAP3K1 | c.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 | |
5 | g.56859897A>C | CA359802683 | MAP3K1 | c.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 |
5 | g.56859897A>G | CA444391772 | MAP3K1 | c.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 | |
5 | g.56859897A>T | CA359802684 | MAP3K1 | c.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 | |
5 | g.56859898A>C | CA444391773 | MAP3K1 | c.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 | |
5 | g.56859898A>G | CA359802685 | MAP3K1 | c.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 | |
5 | g.56859898A>T | CA359802686 | MAP3K1 | c.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 |
5 | g.56859900_56859901del | CA645563850 | MAP3K1 | c.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 |
5 | g.56859899G>A | CA359802689 | MAP3K1 | c.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 | |
5 | g.56859899G>C | CA359802687 | MAP3K1 | c.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 |
5 | g.56859899G= | CA1548129262 | MAP3K1 | c.818G= (p.Arg273=) c.440G= (p.Arg147=) c.563G= (p.Arg188=) c.407G= (p.Arg136=) c.329G= (p.Arg110=) n.849G= | |
5 | g.56859899G>T | CA359802688 | MAP3K1 | c.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 |
5 | g.56859900A>C | CA359802690 | MAP3K1 | c.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 | |
5 | g.56859900A>G | CA444391774 | MAP3K1 | c.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 |
5 | g.56859900A>T | CA359802691 | MAP3K1 | c.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 | |
5 | g.56859901G>A | CA359802692 | MAP3K1 | c.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 |
5 | g.56859901G>C | CA359802693 | MAP3K1 | c.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 | |
5 | g.56859901G>T | CA359802694 | MAP3K1 | c.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 | |
5 | g.56859902T>A | CA359802695 | MAP3K1 | c.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 | |
5 | g.56859902T>C | CA359802696 | MAP3K1 | c.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 | |
5 | g.56859902T>G | CA359802697 | MAP3K1 | c.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 | |
5 | g.56859903T>A | CA444391775 | MAP3K1 | c.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 | |
5 | g.56859903T>C | CA444391776 | MAP3K1 | c.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 | |
5 | g.56859903T>G | CA444391777 | MAP3K1 | c.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 |
5 | g.56859904T>A | CA359802698 | MAP3K1 | c.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 | |
5 | g.56859904T>C | CA359802699 | MAP3K1 | c.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 |
5 | g.56859904T>G | CA359802700 | MAP3K1 | c.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 | |
5 | g.56859904_56859905delinsCT | CA2695204486 | MAP3K1 | c.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 | |
5 | g.56859905C>A | CA359802701 | MAP3K1 | c.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 | |
5 | g.56859905C>G | CA359802703 | MAP3K1 | c.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 | |
5 | g.56859905C>T | CA359802702 | MAP3K1 | c.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 |
5 | g.56859908del | CA2673908359 | MAP3K1 | c.827del (p.Pro276GlnfsTer?) c.449del (p.Pro150GlnfsTer?) c.572del (p.Pro191GlnfsTer?) c.416del (p.Pro139GlnfsTer?) c.338del (p.Pro113GlnfsTer?) n.858del | gnomAD v4 |
5 | g.56859906C>A | CA444391778 | MAP3K1 | c.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 | |
5 | g.56859906C= | CA1548129263 | MAP3K1 | c.825C= (p.Ser275=) c.447C= (p.Ser149=) c.570C= (p.Ser190=) c.414C= (p.Ser138=) c.336C= (p.Ser112=) n.856C= | |
5 | g.56859906C>G | CA444391779 | MAP3K1 | c.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 | |
5 | g.56859906C>T | CA444391780 | MAP3K1 | c.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 |
5 | g.56859907C>A | CA359802704 | MAP3K1 | c.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 | |
5 | g.56859907C>G | CA359802706 | MAP3K1 | c.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 | |
5 | g.56859907C>T | CA359802705 | MAP3K1 | c.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 |
5 | g.56859908C>A | CA359802707 | MAP3K1 | c.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 |
5 | g.56859908C>G | CA359802709 | MAP3K1 | c.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 | |
5 | g.56859908C>T | CA359802708 | MAP3K1 | c.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 | |
5 | g.56859909A>C | CA444391781 | MAP3K1 | c.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 | |
5 | g.56859909A>G | CA444391782 | MAP3K1 | c.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 |
5 | g.56859909A>T | CA444391783 | MAP3K1 | c.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 | |
5 | g.56859910G>A | CA359802710 | MAP3K1 | c.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 |
5 | g.56859910G>C | CA359802711 | MAP3K1 | c.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 |
5 | g.56859910G= | CA1548129264 | MAP3K1 | c.829G= (p.Val277=) c.451G= (p.Val151=) c.574G= (p.Val192=) c.418G= (p.Val140=) c.340G= (p.Val114=) n.860G= | |
5 | g.56859910G>T | CA359802712 | MAP3K1 | c.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 |
5 | g.56859911T>A | CA359802713 | MAP3K1 | c.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 | |
5 | g.56859911T>C | CA359802714 | MAP3K1 | c.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 | |
5 | g.56859911T>G | CA359802715 | MAP3K1 | c.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 | |
5 | g.56859912G>A | CA444391784 | MAP3K1 | c.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 | |
5 | g.56859912G>C | CA3272610 | MAP3K1 | c.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 |
5 | g.56859912G= | CA1548129265 | MAP3K1 | c.831G= (p.Val277=) c.453G= (p.Val151=) c.576G= (p.Val192=) c.420G= (p.Val140=) c.342G= (p.Val114=) n.862G= | |
5 | g.56859912G>T | CA444391785 | MAP3K1 | c.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 | |
5 | g.56859913C>A | CA359802716 | MAP3K1 | c.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 |
5 | g.56859913C= | CA1548129266 | MAP3K1 | c.832C= (p.Pro278=) c.454C= (p.Pro152=) c.577C= (p.Pro193=) c.421C= (p.Pro141=) c.343C= (p.Pro115=) n.863C= | |
5 | g.56859913C>G | CA359802717 | MAP3K1 | c.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 | |
5 | g.56859913C>T | CA3272611 | MAP3K1 | c.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 |
5 | g.56859914C>A | CA359802718 | MAP3K1 | c.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 |
5 | g.56859914C>G | CA359802719 | MAP3K1 | c.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 | |
5 | g.56859914C>T | CA359802720 | MAP3K1 | c.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 | |
5 | g.56859915T>A | CA444391786 | MAP3K1 | c.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 | |
5 | g.56859915T>C | CA119520119 | MAP3K1 | c.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 |
5 | g.56859915T>G | CA444391787 | MAP3K1 | c.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 | |
5 | g.56859915T= | CA1548129267 | MAP3K1 | c.834T= (p.Pro278=) c.456T= (p.Pro152=) c.579T= (p.Pro193=) c.423T= (p.Pro141=) c.345T= (p.Pro115=) n.865T= | |
5 | g.56859916G>A | CA359802721 | MAP3K1 | c.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 |
5 | g.56859916G>C | CA359802722 | MAP3K1 | c.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 | |
5 | g.56859916G>T | CA359802723 | MAP3K1 | c.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 | |
5 | g.56859917T>A | CA359802724 | MAP3K1 | c.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 | |
5 | g.56859917T>C | CA359802725 | MAP3K1 | c.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 | |
5 | g.56859917T>G | CA359802726 | MAP3K1 | c.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 | |
5 | g.56859918A= | CA1548129268 | MAP3K1 | c.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= | |
5 | g.56859918A>G | CA812365363 | MAP3K1 | c.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 |
5 | g.56859919_56859925delinsAGTTAAT | CA1548129269 | MAP3K1 | c.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 | |
5 | g.56859920G>A | CA2708944222 | MAP3K1 | c.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 |
5 | g.56859920G>T | CA2566658773 | MAP3K1 | c.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 | |
5 | g.56859924_56859929del | CA559802751 | MAP3K1 | c.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 |
5 | g.56859924dup | CA2673908360 | MAP3K1 | c.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 |
5 | g.56859924A= | CA1548129270 | MAP3K1 | c.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= | |
5 | g.56859924A>G | CA3272612 | MAP3K1 | c.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 |
5 | g.56859926G>A | CA2673908361 | MAP3K1 | c.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 |
5 | g.56859927_56859933delinsTTACAAC | CA1548129271 | MAP3K1 | c.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 | |
5 | g.56859928T= | CA1548129272 | MAP3K1 | c.834+13T= (n.834+13T=) c.456+13T= (n.456+13T=) c.579+13T= (n.579+13T=) c.423+13T= (n.423+13T=) c.345+13T= (n.345+13T=) n.865+13T= | |
5 | g.56859928_56859933del | CA559802752 | MAP3K1 | c.834+13_834+18del (n.834+13_834+18del) c.456+13_456+18del (n.456+13_456+18del) c.579+13_579+18del (n.579+13_579+18del) c.423+13_423+18del (n.423+13_423+18del) c.345+13_345+18del (n.345+13_345+18del) n.865+13_865+18del | dbSNP gnomAD v2 |
5 | g.56859929dup | CA3272613 | MAP3K1 | c.834+14dup (n.834+14dup) c.456+14dup (n.456+14dup) c.579+14dup (n.579+14dup) c.423+14dup (n.423+14dup) c.345+14dup (n.345+14dup) n.865+14dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.56859929_56859930delinsAC | CA1548129273 | MAP3K1 | c.834+14_834+15delinsAC (n.834+14_834+15delinsAC) c.456+14_456+15delinsAC (n.456+14_456+15delinsAC) c.579+14_579+15delinsAC (n.579+14_579+15delinsAC) c.423+14_423+15delinsAC (n.423+14_423+15delinsAC) c.345+14_345+15delinsAC (n.345+14_345+15delinsAC) n.865+14_865+15delinsAC | |
5 | g.56859930del | CA3272614 | MAP3K1 | c.834+15del (n.834+15del) c.456+15del (n.456+15del) c.579+15del (n.579+15del) c.423+15del (n.423+15del) c.345+15del (n.345+15del) n.865+15del | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.56859930C>A | CA559802754 | MAP3K1 | c.834+15C>A (n.834+15C>A) c.456+15C>A (n.456+15C>A) c.579+15C>A (n.579+15C>A) c.423+15C>A (n.423+15C>A) c.345+15C>A (n.345+15C>A) n.865+15C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.56859930C= | CA1548129274 | MAP3K1 | c.834+15C= (n.834+15C=) c.456+15C= (n.456+15C=) c.579+15C= (n.579+15C=) c.423+15C= (n.423+15C=) c.345+15C= (n.345+15C=) n.865+15C= | |
5 | g.56859930C>T | CA559802753 | MAP3K1 | c.834+15C>T (n.834+15C>T) c.456+15C>T (n.456+15C>T) c.579+15C>T (n.579+15C>T) c.423+15C>T (n.423+15C>T) c.345+15C>T (n.345+15C>T) n.865+15C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.56859931A= | CA1548129275 | MAP3K1 | c.834+16A= (n.834+16A=) c.456+16A= (n.456+16A=) c.579+16A= (n.579+16A=) c.423+16A= (n.423+16A=) c.345+16A= (n.345+16A=) n.865+16A= | |
5 | g.56859931A>G | CA1548129276 | MAP3K1 | c.834+16A>G (n.834+16A>G) c.456+16A>G (n.456+16A>G) c.579+16A>G (n.579+16A>G) c.423+16A>G (n.423+16A>G) c.345+16A>G (n.345+16A>G) n.865+16A>G | dbSNP |
5 | g.56859932A>G | CA2673908362 | MAP3K1 | c.834+17A>G (n.834+17A>G) c.456+17A>G (n.456+17A>G) c.579+17A>G (n.579+17A>G) c.423+17A>G (n.423+17A>G) c.345+17A>G (n.345+17A>G) n.865+17A>G | gnomAD v4 |
5 | g.56859932A>T | CA2673908363 | MAP3K1 | c.834+17A>T (n.834+17A>T) c.456+17A>T (n.456+17A>T) c.579+17A>T (n.579+17A>T) c.423+17A>T (n.423+17A>T) c.345+17A>T (n.345+17A>T) n.865+17A>T | gnomAD v4 |
5 | g.56859933C>A | CA2673908364 | MAP3K1 | c.834+18C>A (n.834+18C>A) c.456+18C>A (n.456+18C>A) c.579+18C>A (n.579+18C>A) c.423+18C>A (n.423+18C>A) c.345+18C>A (n.345+18C>A) n.865+18C>A | gnomAD v4 |
5 | g.56859933C>G | CA2708944224 | MAP3K1 | c.834+18C>G (n.834+18C>G) c.456+18C>G (n.456+18C>G) c.579+18C>G (n.579+18C>G) c.423+18C>G (n.423+18C>G) c.345+18C>G (n.345+18C>G) n.865+18C>G | dbSNP |
5 | g.56859934A= | CA1548129277 | MAP3K1 | c.834+19A= (n.834+19A=) c.456+19A= (n.456+19A=) c.579+19A= (n.579+19A=) c.423+19A= (n.423+19A=) c.345+19A= (n.345+19A=) n.865+19A= | |
5 | g.56859934A>G | CA559802755 | MAP3K1 | c.834+19A>G (n.834+19A>G) c.456+19A>G (n.456+19A>G) c.579+19A>G (n.579+19A>G) c.423+19A>G (n.423+19A>G) c.345+19A>G (n.345+19A>G) n.865+19A>G | dbSNP gnomAD v2 gnomAD v4 |