| 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.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 |