Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31271279T>A | CA3710759 | HLA-C | c.413A>T (p.Asp138Val) c.396A>T (p.Ter132Cys) c.411A>T n.682A>T n.772A>T n.602A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271279T>C | CA136867516 | HLA-C | c.413A>G (p.Asp138Gly) c.396A>G (p.Ter132Trp) c.411A>G n.682A>G n.772A>G n.602A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271279T>G | CA363326654 | HLA-C | c.413A>C (p.Asp138Ala) c.396A>C (p.Ter132Cys) c.411A>C n.682A>C n.772A>C n.602A>C | gnomAD v3 gnomAD v4 |
6 | g.31271279T= | CA1619080477 | HLA-C | c.413A= (p.Asp138=) c.396A= (p.Ter132=) c.411A= n.682A= n.772A= n.602A= | |
6 | g.31271280_31271282del | CA2677951330 | HLA-C | c.411_413del (p.Asp138del) c.394_396del (p.Ter132del) c.409_411del n.680_682del n.770_772del n.600_602del | gnomAD v4 |
6 | g.31271280C>A | CA363326660 | HLA-C | c.412G>T (p.Asp138Tyr) c.395G>T (p.Ter132Leu) c.410G>T n.681G>T n.771G>T n.601G>T | gnomAD v4 |
6 | g.31271280C= | CA1619080478 | HLA-C | c.412G= (p.Asp138=) c.395G= (p.Ter132=) c.410G= n.681G= n.771G= n.601G= | |
6 | g.31271280C>G | CA3710761 | HLA-C | c.412G>C (p.Asp138His) c.395G>C (p.Ter132Ser) c.410G>C n.681G>C n.771G>C n.601G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271280C>T | CA3710760 | HLA-C | c.412G>A (p.Asp138Asn) c.395G>A (p.Ter132=) c.410G>A n.681G>A n.771G>A n.601G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271280_31271281del | CA2770491533 | HLA-C | c.411_412del (p.Tyr137Ter) c.394_395del (p.Ter132ThrextTer13) c.409_410del n.680_681del n.770_771del n.600_601del | |
6 | g.31271281A= | CA1619080479 | HLA-C | c.411T= (p.Tyr137=) c.394T= (p.Ter132=) c.409T= n.680T= n.770T= n.600T= | |
6 | g.31271281A>C | CA136867523 | HLA-C | c.411T>G (p.Tyr137Ter) c.394T>G (p.Ter132Gly) c.409T>G n.680T>G n.770T>G n.600T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271281A>G | CA3710762 | HLA-C | c.411T>C (p.Tyr137=) c.394T>C (p.Ter132Arg) c.409T>C n.680T>C n.770T>C n.600T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271281A>T | CA363326703 | HLA-C | c.411T>A (p.Tyr137Ter) c.394T>A (p.Ter132Arg) c.409T>A n.680T>A n.770T>A n.600T>A | gnomAD v4 |
6 | g.31271282T>A | CA136867532 | HLA-C | c.410A>T (p.Tyr137Phe) c.393A>T (p.Val131=) c.408A>T n.679A>T n.769A>T n.599A>T | dbSNP gnomAD v4 |
6 | g.31271282T>C | CA3710763 | HLA-C | c.410A>G (p.Tyr137Cys) c.393A>G (p.Val131=) c.408A>G n.679A>G n.769A>G n.599A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271282T>G | CA363326717 | HLA-C | c.410A>C (p.Tyr137Ser) c.393A>C (p.Val131=) c.408A>C n.679A>C n.769A>C n.599A>C | gnomAD v3 gnomAD v4 |
6 | g.31271282T= | CA1619080480 | HLA-C | c.410A= (p.Tyr137=) c.393A= (p.Val131=) c.408A= n.679A= n.769A= n.599A= | |
6 | g.31271283del | CA2677951331 | HLA-C | c.409del (p.Tyr137MetfsTer14) c.392del (p.Val131AspfsTer?) c.407del n.678del n.768del n.598del | gnomAD v4 |
6 | g.31271283A= | CA1619080481 | HLA-C | c.409T= (p.Tyr137=) c.392T= (p.Val131=) c.407T= n.678T= n.768T= n.598T= | |
6 | g.31271283A>C | CA363326730 | HLA-C | c.409T>G (p.Tyr137Asp) c.392T>G (p.Val131Gly) c.407T>G n.678T>G n.768T>G n.598T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271283A>G | CA3710764 | HLA-C | c.409T>C (p.Tyr137His) c.392T>C (p.Val131Ala) c.407T>C n.678T>C n.768T>C n.598T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271283A>T | CA136867539 | HLA-C | c.409T>A (p.Tyr137Asn) c.392T>A (p.Val131Glu) c.407T>A n.678T>A n.768T>A n.598T>A | dbSNP gnomAD v4 |
6 | g.31271291_31271411del | CA2770491534 | HLA-C | c.344-55_409del c.344-72_392del c.342-55_407del n.558_678del n.648_768del n.533-55_598del | |
6 | g.31271284C>A | CA3710765 | HLA-C | c.408G>T (p.Gly136=) c.391G>T (p.Val131Leu) c.406G>T n.677G>T n.767G>T n.597G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.31271284C= | CA1619080482 | HLA-C | c.408G= (p.Gly136=) c.391G= (p.Val131=) c.406G= n.677G= n.767G= n.597G= | |
6 | g.31271284C>G | CA136867595 | HLA-C | c.408G>C (p.Gly136=) c.391G>C (p.Val131Leu) c.406G>C n.677G>C n.767G>C n.597G>C | dbSNP gnomAD v4 COSMIC |
6 | g.31271284C>T | CA136867601 | HLA-C | c.408G>A (p.Gly136=) c.391G>A (p.Val131Ile) c.406G>A n.677G>A n.767G>A n.597G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271286del | CA2677951332 | HLA-C | c.408del (p.Tyr137MetfsTer14) c.391del (p.Val131TyrfsTer?) c.406del n.677del n.767del n.597del | gnomAD v4 |
6 | g.31271285C>A | CA136867610 | HLA-C | c.407G>T (p.Gly136Val) c.390G>T (p.Arg130=) c.405G>T n.676G>T n.766G>T n.596G>T | gnomAD v3 gnomAD v4 |
6 | g.31271285C= | CA1619080483 | HLA-C | c.407G= (p.Gly136=) c.390G= (p.Arg130=) c.405G= n.676G= n.766G= n.596G= | |
6 | g.31271285C>G | CA136867627 | HLA-C | c.407G>C (p.Gly136Ala) c.390G>C (p.Arg130=) c.405G>C n.676G>C n.766G>C n.596G>C | dbSNP gnomAD v4 |
6 | g.31271285C>T | CA363326754 | HLA-C | c.407G>A (p.Gly136Glu) c.390G>A (p.Arg130=) c.405G>A n.676G>A n.766G>A n.596G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271286_31271287insTGTCC | CA2677951333 | HLA-C | c.407_408insACAGG (p.Tyr137GlnfsTer16) c.390_391insACAGG (p.Val131ThrfsTer?) c.405_406insACAGG n.676_677insACAGG n.766_767insACAGG n.596_597insACAGG | gnomAD v4 |
6 | g.31271286C>A | CA363326761 | HLA-C | c.406G>T (p.Gly136Trp) c.389G>T (p.Arg130Leu) c.404G>T n.675G>T n.765G>T n.595G>T | gnomAD v4 |
6 | g.31271286C= | CA1619080484 | HLA-C | c.406G= (p.Gly136=) c.389G= (p.Arg130=) c.404G= n.675G= n.765G= n.595G= | |
6 | g.31271286C>G | CA136867631 | HLA-C | c.406G>C (p.Gly136Arg) c.389G>C (p.Arg130Pro) c.404G>C n.675G>C n.765G>C n.595G>C | dbSNP gnomAD v4 |
6 | g.31271286C>T | CA3710766 | HLA-C | c.406G>A (p.Gly136Arg) c.389G>A (p.Arg130Gln) c.404G>A n.675G>A n.765G>A n.595G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271288_31271289del | CA2677951334 | HLA-C | c.405_406del (p.Gly136ValfsTer2) c.388_389del (p.Arg130GlyfsTer15) c.403_404del n.674_675del n.764_765del n.594_595del | gnomAD v4 |
6 | g.31271287del | CA2677951335 | HLA-C | c.405del (p.Tyr137MetfsTer14) c.388del (p.Arg130GlyfsTer?) c.403del n.674del n.764del n.594del | gnomAD v4 |
6 | g.31271287G>A | CA136867634 | HLA-C | c.405C>T (p.Arg135=) c.388C>T (p.Arg130Trp) c.403C>T n.674C>T n.764C>T n.594C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31271287G>C | CA449790499 | HLA-C | c.405C>G (p.Arg135=) c.388C>G (p.Arg130Gly) c.403C>G n.674C>G n.764C>G n.594C>G | gnomAD v4 |
6 | g.31271287G= | CA1619080485 | HLA-C | c.405C= (p.Arg135=) c.388C= (p.Arg130=) c.403C= n.674C= n.764C= n.594C= | |
6 | g.31271287G>T | CA449790501 | HLA-C | c.405C>A (p.Arg135=) c.388C>A (p.Arg130=) c.403C>A n.674C>A n.764C>A n.594C>A | gnomAD v4 |
6 | g.31271288del | CA2677951336 | HLA-C | c.404del (p.Arg135ProfsTer16) c.387del (p.Arg130GlyfsTer?) c.402del n.673del n.763del n.593del | gnomAD v4 |
6 | g.31271288C>A | CA136867638 | HLA-C | c.404G>T (p.Arg135Leu) c.387G>T (p.Pro129=) c.402G>T n.673G>T n.763G>T n.593G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31271288C= | CA1619080486 | HLA-C | c.404G= (p.Arg135=) c.387G= (p.Pro129=) c.402G= n.673G= n.763G= n.593G= | |
6 | g.31271288C>G | CA363326775 | HLA-C | c.404G>C (p.Arg135Pro) c.387G>C (p.Pro129=) c.402G>C n.673G>C n.763G>C n.593G>C | gnomAD v4 |
6 | g.31271288C>T | CA136867645 | HLA-C | c.404G>A (p.Arg135His) c.387G>A (p.Pro129=) c.402G>A n.673G>A n.763G>A n.593G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31271289G>A | CA136867649 | HLA-C | c.403C>T (p.Arg135Cys) c.386C>T (p.Pro129Leu) c.401C>T n.672C>T n.762C>T n.592C>T | dbSNP gnomAD v4 |