Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.36684451G>A | CA3780389 | CDKN1A | c.350G>A (p.Cys117Tyr) n.544G>A n.569G>A c.452G>A (p.Cys151Tyr) c.389G>A (p.Cys130Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684451G>C | CA363834522 | CDKN1A | c.350G>C (p.Cys117Ser) n.544G>C n.569G>C c.452G>C (p.Cys151Ser) c.389G>C (p.Cys130Ser) | dbSNP |
6 | g.36684451G= | CA1621457040 | CDKN1A | c.350G= (p.Cys117=) n.544G= n.569G= c.452G= (p.Cys151=) c.389G= (p.Cys130=) | |
6 | g.36684451G>T | CA363834523 | CDKN1A | c.350G>T (p.Cys117Phe) n.544G>T n.569G>T c.452G>T (p.Cys151Phe) c.389G>T (p.Cys130Phe) | |
6 | g.36684452T>A | CA363834525 | CDKN1A | c.351T>A (p.Cys117Ter) n.545T>A n.570T>A c.453T>A (p.Cys151Ter) c.390T>A (p.Cys130Ter) | dbSNP |
6 | g.36684452T>C | CA450129492 | CDKN1A | c.351T>C (p.Cys117=) n.545T>C n.570T>C c.453T>C (p.Cys151=) c.390T>C (p.Cys130=) | |
6 | g.36684452T>G | CA363834524 | CDKN1A | c.351T>G (p.Cys117Trp) n.545T>G n.570T>G c.453T>G (p.Cys151Trp) c.390T>G (p.Cys130Trp) | dbSNP |
6 | g.36684453A>C | CA363834526 | CDKN1A | c.352A>C (p.Thr118Pro) n.546A>C n.571A>C c.454A>C (p.Thr152Pro) c.391A>C (p.Thr131Pro) | |
6 | g.36684453A>G | CA363834527 | CDKN1A | c.352A>G (p.Thr118Ala) n.546A>G n.571A>G c.454A>G (p.Thr152Ala) c.391A>G (p.Thr131Ala) | |
6 | g.36684453A>T | CA363834528 | CDKN1A | c.352A>T (p.Thr118Ser) n.546A>T n.571A>T c.454A>T (p.Thr152Ser) c.391A>T (p.Thr131Ser) | dbSNP |
6 | g.36684454C>A | CA363834529 | CDKN1A | c.353C>A (p.Thr118Asn) n.547C>A n.572C>A c.455C>A (p.Thr152Asn) c.392C>A (p.Thr131Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684454C= | CA1621457041 | CDKN1A | c.353C= (p.Thr118=) n.547C= n.572C= c.455C= (p.Thr152=) c.392C= (p.Thr131=) | |
6 | g.36684454C>G | CA3780390 | CDKN1A | c.353C>G (p.Thr118Ser) n.547C>G n.572C>G c.455C>G (p.Thr152Ser) c.392C>G (p.Thr131Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684454C>T | CA363834530 | CDKN1A | c.353C>T (p.Thr118Ile) n.547C>T n.572C>T c.455C>T (p.Thr152Ile) c.392C>T (p.Thr131Ile) | dbSNP |
6 | g.36684455C>A | CA450129493 | CDKN1A | c.354C>A (p.Thr118=) n.548C>A n.573C>A c.456C>A (p.Thr152=) c.393C>A (p.Thr131=) | dbSNP |
6 | g.36684455C>G | CA450129494 | CDKN1A | c.354C>G (p.Thr118=) n.548C>G n.573C>G c.456C>G (p.Thr152=) c.393C>G (p.Thr131=) | dbSNP |
6 | g.36684455C>T | CA450129495 | CDKN1A | c.354C>T (p.Thr118=) n.548C>T n.573C>T c.456C>T (p.Thr152=) c.393C>T (p.Thr131=) | dbSNP |
6 | g.36684456C>A | CA363834531 | CDKN1A | c.355C>A (p.Leu119Ile) n.549C>A n.574C>A c.457C>A (p.Leu153Ile) c.394C>A (p.Leu132Ile) | dbSNP |
6 | g.36684456C>G | CA363834532 | CDKN1A | c.355C>G (p.Leu119Val) n.549C>G n.574C>G c.457C>G (p.Leu153Val) c.394C>G (p.Leu132Val) | dbSNP |
6 | g.36684456C>T | CA363834533 | CDKN1A | c.355C>T (p.Leu119Phe) n.549C>T n.574C>T c.457C>T (p.Leu153Phe) c.394C>T (p.Leu132Phe) | dbSNP |
6 | g.36684457T>A | CA363834534 | CDKN1A | c.356T>A (p.Leu119His) n.550T>A n.575T>A c.458T>A (p.Leu153His) c.395T>A (p.Leu132His) | dbSNP |
6 | g.36684457T>C | CA363834535 | CDKN1A | c.356T>C (p.Leu119Pro) n.550T>C n.575T>C c.458T>C (p.Leu153Pro) c.395T>C (p.Leu132Pro) | dbSNP |
6 | g.36684457T>G | CA363834536 | CDKN1A | c.356T>G (p.Leu119Arg) n.550T>G n.575T>G c.458T>G (p.Leu153Arg) c.395T>G (p.Leu132Arg) | |
6 | g.36684458T>A | CA450129496 | CDKN1A | c.357T>A (p.Leu119=) n.551T>A n.576T>A c.459T>A (p.Leu153=) c.396T>A (p.Leu132=) | dbSNP |
6 | g.36684458T>C | CA450129498 | CDKN1A | c.357T>C (p.Leu119=) n.551T>C n.576T>C c.459T>C (p.Leu153=) c.396T>C (p.Leu132=) | dbSNP |
6 | g.36684458T>G | CA450129497 | CDKN1A | c.357T>G (p.Leu119=) n.551T>G n.576T>G c.459T>G (p.Leu153=) c.396T>G (p.Leu132=) | |
6 | g.36684459G>A | CA363834539 | CDKN1A | c.358G>A (p.Val120Met) n.552G>A n.577G>A c.460G>A (p.Val154Met) c.397G>A (p.Val133Met) | dbSNP |
6 | g.36684459G>C | CA363834538 | CDKN1A | c.358G>C (p.Val120Leu) n.552G>C n.577G>C c.460G>C (p.Val154Leu) c.397G>C (p.Val133Leu) | dbSNP |
6 | g.36684459G>T | CA363834537 | CDKN1A | c.358G>T (p.Val120Leu) n.552G>T n.577G>T c.460G>T (p.Val154Leu) c.397G>T (p.Val133Leu) | |
6 | g.36684460T>A | CA363834540 | CDKN1A | c.359T>A (p.Val120Glu) n.553T>A n.578T>A c.461T>A (p.Val154Glu) c.398T>A (p.Val133Glu) | dbSNP |
6 | g.36684460T>C | CA363834541 | CDKN1A | c.359T>C (p.Val120Ala) n.553T>C n.578T>C c.461T>C (p.Val154Ala) c.398T>C (p.Val133Ala) | |
6 | g.36684460T>G | CA363834542 | CDKN1A | c.359T>G (p.Val120Gly) n.553T>G n.578T>G c.461T>G (p.Val154Gly) c.398T>G (p.Val133Gly) | dbSNP |
6 | g.36684461G>A | CA450129499 | CDKN1A | c.360G>A (p.Val120=) n.554G>A n.579G>A c.462G>A (p.Val154=) c.399G>A (p.Val133=) | dbSNP |
6 | g.36684461G>C | CA450129500 | CDKN1A | c.360G>C (p.Val120=) n.554G>C n.579G>C c.462G>C (p.Val154=) c.399G>C (p.Val133=) | dbSNP |
6 | g.36684461G= | CA1621457042 | CDKN1A | c.360G= (p.Val120=) n.554G= n.579G= c.462G= (p.Val154=) c.399G= (p.Val133=) | |
6 | g.36684461G>T | CA450129501 | CDKN1A | c.360G>T (p.Val120=) n.554G>T n.579G>T c.462G>T (p.Val154=) c.399G>T (p.Val133=) | |
6 | g.36684462C>A | CA363834543 | CDKN1A | c.361C>A (p.Pro121Thr) n.555C>A n.580C>A c.463C>A (p.Pro155Thr) c.400C>A (p.Pro134Thr) | dbSNP |
6 | g.36684462C>G | CA363834544 | CDKN1A | c.361C>G (p.Pro121Ala) n.555C>G n.580C>G c.463C>G (p.Pro155Ala) c.400C>G (p.Pro134Ala) | dbSNP |
6 | g.36684462C>T | CA363834545 | CDKN1A | c.361C>T (p.Pro121Ser) n.555C>T n.580C>T c.463C>T (p.Pro155Ser) c.400C>T (p.Pro134Ser) | dbSNP gnomAD v4 |
6 | g.36684463C>A | CA363834546 | CDKN1A | c.362C>A (p.Pro121His) n.556C>A n.581C>A c.464C>A (p.Pro155His) c.401C>A (p.Pro134His) | dbSNP |
6 | g.36684463C= | CA1621457043 | CDKN1A | c.362C= (p.Pro121=) n.556C= n.581C= c.464C= (p.Pro155=) c.401C= (p.Pro134=) | |
6 | g.36684463C>G | CA363834547 | CDKN1A | c.362C>G (p.Pro121Arg) n.556C>G n.581C>G c.464C>G (p.Pro155Arg) c.401C>G (p.Pro134Arg) | dbSNP |
6 | g.36684463C>T | CA363834548 | CDKN1A | c.362C>T (p.Pro121Leu) n.556C>T n.581C>T c.464C>T (p.Pro155Leu) c.401C>T (p.Pro134Leu) | dbSNP |
6 | g.36684464T>A | CA450129502 | CDKN1A | c.363T>A (p.Pro121=) n.557T>A n.582T>A c.465T>A (p.Pro155=) c.402T>A (p.Pro134=) | dbSNP |
6 | g.36684464T>C | CA450129503 | CDKN1A | c.363T>C (p.Pro121=) n.557T>C n.582T>C c.465T>C (p.Pro155=) c.402T>C (p.Pro134=) | dbSNP |
6 | g.36684464T>G | CA450129504 | CDKN1A | c.363T>G (p.Pro121=) n.557T>G n.582T>G c.465T>G (p.Pro155=) c.402T>G (p.Pro134=) | |
6 | g.36684465C>A | CA363834549 | CDKN1A | c.364C>A (p.Arg122Ser) n.558C>A n.583C>A c.466C>A (p.Arg156Ser) c.403C>A (p.Arg135Ser) | dbSNP |
6 | g.36684465C= | CA1621457044 | CDKN1A | c.364C= (p.Arg122=) n.558C= n.583C= c.466C= (p.Arg156=) c.403C= (p.Arg135=) | |
6 | g.36684465C>G | CA363834550 | CDKN1A | c.364C>G (p.Arg122Gly) n.558C>G n.583C>G c.466C>G (p.Arg156Gly) c.403C>G (p.Arg135Gly) | dbSNP |
6 | g.36684465C>T | CA3780391 | CDKN1A | c.364C>T (p.Arg122Cys) n.558C>T n.583C>T c.466C>T (p.Arg156Cys) c.403C>T (p.Arg135Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684466G>A | CA3780392 | CDKN1A | c.365G>A (p.Arg122His) n.559G>A n.584G>A c.467G>A (p.Arg156His) c.404G>A (p.Arg135His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684466G>C | CA363834552 | CDKN1A | c.365G>C (p.Arg122Pro) n.559G>C n.584G>C c.467G>C (p.Arg156Pro) c.404G>C (p.Arg135Pro) | dbSNP |
6 | g.36684466G= | CA1621457045 | CDKN1A | c.365G= (p.Arg122=) n.559G= n.584G= c.467G= (p.Arg156=) c.404G= (p.Arg135=) | |
6 | g.36684466G>T | CA363834551 | CDKN1A | c.365G>T (p.Arg122Leu) n.559G>T n.584G>T c.467G>T (p.Arg156Leu) c.404G>T (p.Arg135Leu) | dbSNP |
6 | g.36684467C>A | CA450129506 | CDKN1A | c.366C>A (p.Arg122=) n.560C>A n.585C>A c.468C>A (p.Arg156=) c.405C>A (p.Arg135=) | dbSNP |
6 | g.36684467C>G | CA450129507 | CDKN1A | c.366C>G (p.Arg122=) n.560C>G n.585C>G c.468C>G (p.Arg156=) c.405C>G (p.Arg135=) | |
6 | g.36684467C>T | CA450129505 | CDKN1A | c.366C>T (p.Arg122=) n.560C>T n.585C>T c.468C>T (p.Arg156=) c.405C>T (p.Arg135=) | |
6 | g.36684468T>A | CA137423586 | CDKN1A | c.367T>A (p.Ser123Thr) n.561T>A n.586T>A c.469T>A (p.Ser157Thr) c.406T>A (p.Ser136Thr) | dbSNP gnomAD v4 |
6 | g.36684468T>C | CA363834553 | CDKN1A | c.367T>C (p.Ser123Pro) n.561T>C n.586T>C c.469T>C (p.Ser157Pro) c.406T>C (p.Ser136Pro) | dbSNP |
6 | g.36684468T>G | CA363834554 | CDKN1A | c.367T>G (p.Ser123Ala) n.561T>G n.586T>G c.469T>G (p.Ser157Ala) c.406T>G (p.Ser136Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684468T= | CA1621457046 | CDKN1A | c.367T= (p.Ser123=) n.561T= n.586T= c.469T= (p.Ser157=) c.406T= (p.Ser136=) | |
6 | g.36684469C>A | CA363834555 | CDKN1A | c.368C>A (p.Ser123Ter) n.562C>A n.587C>A c.470C>A (p.Ser157Ter) c.407C>A (p.Ser136Ter) | dbSNP |
6 | g.36684469C= | CA1621457047 | CDKN1A | c.368C= (p.Ser123=) n.562C= n.587C= c.470C= (p.Ser157=) c.407C= (p.Ser136=) | |
6 | g.36684469C>G | CA363834556 | CDKN1A | c.368C>G (p.Ser123Ter) n.562C>G n.587C>G c.470C>G (p.Ser157Ter) c.407C>G (p.Ser136Ter) | dbSNP |
6 | g.36684469C>T | CA363834557 | CDKN1A | c.368C>T (p.Ser123Leu) n.562C>T n.587C>T c.470C>T (p.Ser157Leu) c.407C>T (p.Ser136Leu) | dbSNP |
6 | g.36684470A= | CA1621457048 | CDKN1A | c.369A= (p.Ser123=) n.563A= n.588A= c.471A= (p.Ser157=) c.408A= (p.Ser136=) | |
6 | g.36684470A>C | CA3780393 | CDKN1A | c.369A>C (p.Ser123=) n.563A>C n.588A>C c.471A>C (p.Ser157=) c.408A>C (p.Ser136=) | dbSNP ExAC gnomAD v2 |
6 | g.36684470A>G | CA450129508 | CDKN1A | c.369A>G (p.Ser123=) n.563A>G n.588A>G c.471A>G (p.Ser157=) c.408A>G (p.Ser136=) | |
6 | g.36684470A>T | CA450129509 | CDKN1A | c.369A>T (p.Ser123=) n.563A>T n.588A>T c.471A>T (p.Ser157=) c.408A>T (p.Ser136=) | |
6 | g.36684470_36684471del | CA2678467009 | CDKN1A | c.369_370del (p.Glu125AlafsTer3) n.563_564del n.588_589del c.471_472del (p.Glu159AlafsTer3) c.408_409del (p.Glu138AlafsTer3) | gnomAD v4 |
6 | g.36684471G>A | CA363834558 | CDKN1A | c.370G>A (p.Gly124Arg) n.564G>A n.589G>A c.472G>A (p.Gly158Arg) c.409G>A (p.Gly137Arg) | dbSNP gnomAD v4 |
6 | g.36684471G>C | CA363834559 | CDKN1A | c.370G>C (p.Gly124Arg) n.564G>C n.589G>C c.472G>C (p.Gly158Arg) c.409G>C (p.Gly137Arg) | |
6 | g.36684471G>T | CA363834560 | CDKN1A | c.370G>T (p.Gly124Trp) n.564G>T n.589G>T c.472G>T (p.Gly158Trp) c.409G>T (p.Gly137Trp) | |
6 | g.36684472G>A | CA3780394 | CDKN1A | c.371G>A (p.Gly124Glu) n.565G>A n.590G>A c.473G>A (p.Gly158Glu) c.410G>A (p.Gly137Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684472G>C | CA363834561 | CDKN1A | c.371G>C (p.Gly124Ala) n.565G>C n.590G>C c.473G>C (p.Gly158Ala) c.410G>C (p.Gly137Ala) | |
6 | g.36684472G= | CA1621457049 | CDKN1A | c.371G= (p.Gly124=) n.565G= n.590G= c.473G= (p.Gly158=) c.410G= (p.Gly137=) | |
6 | g.36684472G>T | CA363834562 | CDKN1A | c.371G>T (p.Gly124Val) n.565G>T n.590G>T c.473G>T (p.Gly158Val) c.410G>T (p.Gly137Val) | dbSNP |
6 | g.36684473G>A | CA450129510 | CDKN1A | c.372G>A (p.Gly124=) n.566G>A n.591G>A c.474G>A (p.Gly158=) c.411G>A (p.Gly137=) | dbSNP |
6 | g.36684473G>C | CA450129511 | CDKN1A | c.372G>C (p.Gly124=) n.566G>C n.591G>C c.474G>C (p.Gly158=) c.411G>C (p.Gly137=) | |
6 | g.36684473G>T | CA450129512 | CDKN1A | c.372G>T (p.Gly124=) n.566G>T n.591G>T c.474G>T (p.Gly158=) c.411G>T (p.Gly137=) | |
6 | g.36684474G>A | CA363834563 | CDKN1A | c.373G>A (p.Glu125Lys) n.567G>A n.592G>A c.475G>A (p.Glu159Lys) c.412G>A (p.Glu138Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684474G>C | CA363834565 | CDKN1A | c.373G>C (p.Glu125Gln) n.567G>C n.592G>C c.475G>C (p.Glu159Gln) c.412G>C (p.Glu138Gln) | |
6 | g.36684474G= | CA1621457050 | CDKN1A | c.373G= (p.Glu125=) n.567G= n.592G= c.475G= (p.Glu159=) c.412G= (p.Glu138=) | |
6 | g.36684474G>T | CA363834564 | CDKN1A | c.373G>T (p.Glu125Ter) n.567G>T n.592G>T c.475G>T (p.Glu159Ter) c.412G>T (p.Glu138Ter) | |
6 | g.36684475A>C | CA363834566 | CDKN1A | c.374A>C (p.Glu125Ala) n.568A>C n.593A>C c.476A>C (p.Glu159Ala) c.413A>C (p.Glu138Ala) | |
6 | g.36684475A>G | CA363834568 | CDKN1A | c.374A>G (p.Glu125Gly) n.568A>G n.593A>G c.476A>G (p.Glu159Gly) c.413A>G (p.Glu138Gly) | dbSNP gnomAD v4 |
6 | g.36684475A>T | CA363834567 | CDKN1A | c.374A>T (p.Glu125Val) n.568A>T n.593A>T c.476A>T (p.Glu159Val) c.413A>T (p.Glu138Val) | |
6 | g.36684476G>A | CA450129513 | CDKN1A | c.375G>A (p.Glu125=) n.569G>A n.594G>A c.477G>A (p.Glu159=) c.414G>A (p.Glu138=) | dbSNP |
6 | g.36684476G>C | CA363834569 | CDKN1A | c.375G>C (p.Glu125Asp) n.569G>C n.594G>C c.477G>C (p.Glu159Asp) c.414G>C (p.Glu138Asp) | |
6 | g.36684476G>T | CA363834570 | CDKN1A | c.375G>T (p.Glu125Asp) n.569G>T n.594G>T c.477G>T (p.Glu159Asp) c.414G>T (p.Glu138Asp) | |
6 | g.36684477C>A | CA363834571 | CDKN1A | c.376C>A (p.Gln126Lys) n.570C>A n.595C>A c.478C>A (p.Gln160Lys) c.415C>A (p.Gln139Lys) | dbSNP |
6 | g.36684477C= | CA1621457051 | CDKN1A | c.376C= (p.Gln126=) n.570C= n.595C= c.478C= (p.Gln160=) c.415C= (p.Gln139=) | |
6 | g.36684477C>G | CA363834572 | CDKN1A | c.376C>G (p.Gln126Glu) n.570C>G n.595C>G c.478C>G (p.Gln160Glu) c.415C>G (p.Gln139Glu) | dbSNP |
6 | g.36684477C>T | CA363834573 | CDKN1A | c.376C>T (p.Gln126Ter) n.570C>T n.595C>T c.478C>T (p.Gln160Ter) c.415C>T (p.Gln139Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684478A= | CA1621457052 | CDKN1A | c.377A= (p.Gln126=) n.571A= n.596A= c.479A= (p.Gln160=) c.416A= (p.Gln139=) | |
6 | g.36684478A>C | CA363834574 | CDKN1A | c.377A>C (p.Gln126Pro) n.571A>C n.596A>C c.479A>C (p.Gln160Pro) c.416A>C (p.Gln139Pro) | |
6 | g.36684478A>G | CA363834575 | CDKN1A | c.377A>G (p.Gln126Arg) n.571A>G n.596A>G c.479A>G (p.Gln160Arg) c.416A>G (p.Gln139Arg) | dbSNP |
6 | g.36684478A>T | CA363834576 | CDKN1A | c.377A>T (p.Gln126Leu) n.571A>T n.596A>T c.479A>T (p.Gln160Leu) c.416A>T (p.Gln139Leu) | |
6 | g.36684478_36684479insCAA | CA3780395 | CDKN1A | c.377_378insCAA (p.Gln126delinsHisLys) n.571_572insCAA n.596_597insCAA c.479_480insCAA (p.Gln160delinsHisLys) c.416_417insCAA (p.Gln139delinsHisLys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684478_36684479insCAAGGG | CA1621457053 | CDKN1A | c.377_378insCAAGGG (p.Gln126delinsHisLysGly) n.571_572insCAAGGG n.596_597insCAAGGG c.479_480insCAAGGG (p.Gln160delinsHisLysGly) c.416_417insCAAGGG (p.Gln139delinsHisLysGly) | dbSNP |
6 | g.36684479G>A | CA450129514 | CDKN1A | c.378G>A (p.Gln126=) n.572G>A n.597G>A c.480G>A (p.Gln160=) c.417G>A (p.Gln139=) | dbSNP |
6 | g.36684479G>C | CA363834577 | CDKN1A | c.378G>C (p.Gln126His) n.572G>C n.597G>C c.480G>C (p.Gln160His) c.417G>C (p.Gln139His) | |
6 | g.36684479G= | CA1621457054 | CDKN1A | c.378G= (p.Gln126=) n.572G= n.597G= c.480G= (p.Gln160=) c.417G= (p.Gln139=) | |
6 | g.36684479G>T | CA363834578 | CDKN1A | c.378G>T (p.Gln126His) n.572G>T n.597G>T c.480G>T (p.Gln160His) c.417G>T (p.Gln139His) | gnomAD v4 |
6 | g.36684480G>A | CA363834581 | CDKN1A | c.379G>A (p.Ala127Thr) n.573G>A n.598G>A c.481G>A (p.Ala161Thr) c.418G>A (p.Ala140Thr) | dbSNP gnomAD v2 |
6 | g.36684480G>C | CA363834579 | CDKN1A | c.379G>C (p.Ala127Pro) n.573G>C n.598G>C c.481G>C (p.Ala161Pro) c.418G>C (p.Ala140Pro) | dbSNP |
6 | g.36684480G= | CA1621457055 | CDKN1A | c.379G= (p.Ala127=) n.573G= n.598G= c.481G= (p.Ala161=) c.418G= (p.Ala140=) | |
6 | g.36684480G>T | CA363834580 | CDKN1A | c.379G>T (p.Ala127Ser) n.573G>T n.598G>T c.481G>T (p.Ala161Ser) c.418G>T (p.Ala140Ser) | gnomAD v4 |
6 | g.36684480_36684481insGAG | CA3780396 | CDKN1A | c.379_380insGAG (p.Gln126_Ala127insGly) n.573_574insGAG n.598_599insGAG c.481_482insGAG (p.Gln160_Ala161insGly) c.418_419insGAG (p.Gln139_Ala140insGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684481C>A | CA363834582 | CDKN1A | c.380C>A (p.Ala127Asp) n.574C>A n.599C>A c.482C>A (p.Ala161Asp) c.419C>A (p.Ala140Asp) | |
6 | g.36684481C>G | CA363834583 | CDKN1A | c.380C>G (p.Ala127Gly) n.574C>G n.599C>G c.482C>G (p.Ala161Gly) c.419C>G (p.Ala140Gly) | |
6 | g.36684481C>T | CA363834584 | CDKN1A | c.380C>T (p.Ala127Val) n.574C>T n.599C>T c.482C>T (p.Ala161Val) c.419C>T (p.Ala140Val) | |
6 | g.36684482T>A | CA450129517 | CDKN1A | c.381T>A (p.Ala127=) n.575T>A n.600T>A c.483T>A (p.Ala161=) c.420T>A (p.Ala140=) | |
6 | g.36684482T>C | CA450129516 | CDKN1A | c.381T>C (p.Ala127=) n.575T>C n.600T>C c.483T>C (p.Ala161=) c.420T>C (p.Ala140=) | dbSNP COSMIC COSMIC |
6 | g.36684482T>G | CA450129515 | CDKN1A | c.381T>G (p.Ala127=) n.575T>G n.600T>G c.483T>G (p.Ala161=) c.420T>G (p.Ala140=) | |
6 | g.36684482T= | CA1621457056 | CDKN1A | c.381T= (p.Ala127=) n.575T= n.600T= c.483T= (p.Ala161=) c.420T= (p.Ala140=) | |
6 | g.36684483G>A | CA363834585 | CDKN1A | c.382G>A (p.Glu128Lys) n.576G>A n.601G>A c.484G>A (p.Glu162Lys) c.421G>A (p.Glu141Lys) | dbSNP gnomAD v4 |
6 | g.36684483G>C | CA363834586 | CDKN1A | c.382G>C (p.Glu128Gln) n.576G>C n.601G>C c.484G>C (p.Glu162Gln) c.421G>C (p.Glu141Gln) | |
6 | g.36684483G>T | CA363834587 | CDKN1A | c.382G>T (p.Glu128Ter) n.576G>T n.601G>T c.484G>T (p.Glu162Ter) c.421G>T (p.Glu141Ter) | |
6 | g.36684484A>C | CA363834588 | CDKN1A | c.383A>C (p.Glu128Ala) n.577A>C n.602A>C c.485A>C (p.Glu162Ala) c.422A>C (p.Glu141Ala) | |
6 | g.36684484A>G | CA363834589 | CDKN1A | c.383A>G (p.Glu128Gly) n.577A>G n.602A>G c.485A>G (p.Glu162Gly) c.422A>G (p.Glu141Gly) | |
6 | g.36684484A>T | CA363834590 | CDKN1A | c.383A>T (p.Glu128Val) n.577A>T n.602A>T c.485A>T (p.Glu162Val) c.422A>T (p.Glu141Val) | |
6 | g.36684485A>C | CA363834591 | CDKN1A | c.384A>C (p.Glu128Asp) n.578A>C n.603A>C c.486A>C (p.Glu162Asp) c.423A>C (p.Glu141Asp) | |
6 | g.36684485A>G | CA450129518 | CDKN1A | c.384A>G (p.Glu128=) n.578A>G n.603A>G c.486A>G (p.Glu162=) c.423A>G (p.Glu141=) | |
6 | g.36684485A>T | CA363834592 | CDKN1A | c.384A>T (p.Glu128Asp) n.578A>T n.603A>T c.486A>T (p.Glu162Asp) c.423A>T (p.Glu141Asp) | |
6 | g.36684486G>A | CA363834596 | CDKN1A | c.385G>A (p.Gly129Arg) n.579G>A n.604G>A c.487G>A (p.Gly163Arg) c.424G>A (p.Gly142Arg) | |
6 | g.36684486G>C | CA363834595 | CDKN1A | c.385G>C (p.Gly129Arg) n.579G>C n.604G>C c.487G>C (p.Gly163Arg) c.424G>C (p.Gly142Arg) | |
6 | g.36684486G>T | CA363834593 | CDKN1A | c.385G>T (p.Gly129Trp) n.579G>T n.604G>T c.487G>T (p.Gly163Trp) c.424G>T (p.Gly142Trp) | |
6 | g.36684487G>A | CA363834599 | CDKN1A | c.386G>A (p.Gly129Glu) n.580G>A n.605G>A c.488G>A (p.Gly163Glu) c.425G>A (p.Gly142Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684487G>C | CA363834597 | CDKN1A | c.386G>C (p.Gly129Ala) n.580G>C n.605G>C c.488G>C (p.Gly163Ala) c.425G>C (p.Gly142Ala) | |
6 | g.36684487G= | CA1621457057 | CDKN1A | c.386G= (p.Gly129=) n.580G= n.605G= c.488G= (p.Gly163=) c.425G= (p.Gly142=) | |
6 | g.36684487G>T | CA363834598 | CDKN1A | c.386G>T (p.Gly129Val) n.580G>T n.605G>T c.488G>T (p.Gly163Val) c.425G>T (p.Gly142Val) | |
6 | g.36684488G>A | CA450129519 | CDKN1A | c.387G>A (p.Gly129=) n.581G>A n.606G>A c.489G>A (p.Gly163=) c.426G>A (p.Gly142=) | dbSNP gnomAD v4 |
6 | g.36684488G>C | CA450129520 | CDKN1A | c.387G>C (p.Gly129=) n.581G>C n.606G>C c.489G>C (p.Gly163=) c.426G>C (p.Gly142=) | |
6 | g.36684488G= | CA1621457058 | CDKN1A | c.387G= (p.Gly129=) n.581G= n.606G= c.489G= (p.Gly163=) c.426G= (p.Gly142=) | |
6 | g.36684488G>T | CA450129521 | CDKN1A | c.387G>T (p.Gly129=) n.581G>T n.606G>T c.489G>T (p.Gly163=) c.426G>T (p.Gly142=) | |
6 | g.36684489T>A | CA363834600 | CDKN1A | c.388T>A (p.Ser130Thr) n.582T>A n.607T>A c.490T>A (p.Ser164Thr) c.427T>A (p.Ser143Thr) | |
6 | g.36684489T>C | CA363834601 | CDKN1A | c.388T>C (p.Ser130Pro) n.582T>C n.607T>C c.490T>C (p.Ser164Pro) c.427T>C (p.Ser143Pro) | |
6 | g.36684489T>G | CA363834602 | CDKN1A | c.388T>G (p.Ser130Ala) n.582T>G n.607T>G c.490T>G (p.Ser164Ala) c.427T>G (p.Ser143Ala) | dbSNP |
6 | g.36684489T= | CA1621457059 | CDKN1A | c.388T= (p.Ser130=) n.582T= n.607T= c.490T= (p.Ser164=) c.427T= (p.Ser143=) | |
6 | g.36684490C>A | CA363834605 | CDKN1A | c.389C>A (p.Ser130Tyr) n.583C>A n.608C>A c.491C>A (p.Ser164Tyr) c.428C>A (p.Ser143Tyr) | |
6 | g.36684490C= | CA1621457060 | CDKN1A | c.389C= (p.Ser130=) n.583C= n.608C= c.491C= (p.Ser164=) c.428C= (p.Ser143=) | |
6 | g.36684490C>G | CA363834604 | CDKN1A | c.389C>G (p.Ser130Cys) n.583C>G n.608C>G c.491C>G (p.Ser164Cys) c.428C>G (p.Ser143Cys) | dbSNP gnomAD v4 |
6 | g.36684490C>T | CA363834603 | CDKN1A | c.389C>T (p.Ser130Phe) n.583C>T n.608C>T c.491C>T (p.Ser164Phe) c.428C>T (p.Ser143Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684491C>A | CA450129522 | CDKN1A | c.390C>A (p.Ser130=) n.584C>A n.609C>A c.492C>A (p.Ser164=) c.429C>A (p.Ser143=) | |
6 | g.36684491C>G | CA450129523 | CDKN1A | c.390C>G (p.Ser130=) n.584C>G n.609C>G c.492C>G (p.Ser164=) c.429C>G (p.Ser143=) | |
6 | g.36684491C>T | CA450129524 | CDKN1A | c.390C>T (p.Ser130=) n.584C>T n.609C>T c.492C>T (p.Ser164=) c.429C>T (p.Ser143=) | |
6 | g.36684492C>A | CA363834606 | CDKN1A | c.391C>A (p.Pro131Thr) n.585C>A n.610C>A c.493C>A (p.Pro165Thr) c.430C>A (p.Pro144Thr) | |
6 | g.36684492C>G | CA363834607 | CDKN1A | c.391C>G (p.Pro131Ala) n.585C>G n.610C>G c.493C>G (p.Pro165Ala) c.430C>G (p.Pro144Ala) | |
6 | g.36684492C>T | CA363834608 | CDKN1A | c.391C>T (p.Pro131Ser) n.585C>T n.610C>T c.493C>T (p.Pro165Ser) c.430C>T (p.Pro144Ser) | |
6 | g.36684493C>A | CA363834609 | CDKN1A | c.392C>A (p.Pro131Gln) n.586C>A n.611C>A c.494C>A (p.Pro165Gln) c.431C>A (p.Pro144Gln) | |
6 | g.36684493C= | CA1621457061 | CDKN1A | c.392C= (p.Pro131=) n.586C= n.611C= c.494C= (p.Pro165=) c.431C= (p.Pro144=) | |
6 | g.36684493C>G | CA363834610 | CDKN1A | c.392C>G (p.Pro131Arg) n.586C>G n.611C>G c.494C>G (p.Pro165Arg) c.431C>G (p.Pro144Arg) | |
6 | g.36684493C>T | CA3780397 | CDKN1A | c.392C>T (p.Pro131Leu) n.586C>T n.611C>T c.494C>T (p.Pro165Leu) c.431C>T (p.Pro144Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684494A>C | CA450129150 | CDKN1A | c.393A>C (p.Pro131=) n.587A>C n.612A>C c.495A>C (p.Pro165=) c.432A>C (p.Pro144=) | |
6 | g.36684494A>G | CA450129151 | CDKN1A | c.393A>G (p.Pro131=) n.587A>G n.612A>G c.495A>G (p.Pro165=) c.432A>G (p.Pro144=) | |
6 | g.36684494A>T | CA450129152 | CDKN1A | c.393A>T (p.Pro131=) n.587A>T n.612A>T c.495A>T (p.Pro165=) c.432A>T (p.Pro144=) | |
6 | g.36684495G>A | CA363834611 | CDKN1A | c.394G>A (p.Gly132Ser) n.588G>A n.613G>A c.496G>A (p.Gly166Ser) c.433G>A (p.Gly145Ser) | |
6 | g.36684495G>C | CA363834613 | CDKN1A | c.394G>C (p.Gly132Arg) n.588G>C n.613G>C c.496G>C (p.Gly166Arg) c.433G>C (p.Gly145Arg) | gnomAD v4 |
6 | g.36684495G>T | CA363834612 | CDKN1A | c.394G>T (p.Gly132Cys) n.588G>T n.613G>T c.496G>T (p.Gly166Cys) c.433G>T (p.Gly145Cys) | COSMIC |
6 | g.36684497_36684505del | CA2678467014 | CDKN1A | c.396_404del (p.Gly133_Gly135del) n.590_598del c.498_506del (p.Gly167_Gly169del) c.435_443del (p.Gly146_Gly148del) | gnomAD v4 |
6 | g.36684496G>A | CA363834614 | CDKN1A | c.395G>A (p.Gly132Asp) n.589G>A n.614G>A c.497G>A (p.Gly166Asp) c.434G>A (p.Gly145Asp) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684496G>C | CA3780398 | CDKN1A | c.395G>C (p.Gly132Ala) n.589G>C n.614G>C c.497G>C (p.Gly166Ala) c.434G>C (p.Gly145Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684496G= | CA1621457062 | CDKN1A | c.395G= (p.Gly132=) n.589G= n.614G= c.497G= (p.Gly166=) c.434G= (p.Gly145=) | |
6 | g.36684496G>T | CA363834615 | CDKN1A | c.395G>T (p.Gly132Val) n.589G>T n.614G>T c.497G>T (p.Gly166Val) c.434G>T (p.Gly145Val) | |
6 | g.36684497T>A | CA450129153 | CDKN1A | c.396T>A (p.Gly132=) n.590T>A n.615T>A c.498T>A (p.Gly166=) c.435T>A (p.Gly145=) | dbSNP |
6 | g.36684497T>C | CA450129155 | CDKN1A | c.396T>C (p.Gly132=) n.590T>C n.615T>C c.498T>C (p.Gly166=) c.435T>C (p.Gly145=) | |
6 | g.36684497T>G | CA450129154 | CDKN1A | c.396T>G (p.Gly132=) n.590T>G n.615T>G c.498T>G (p.Gly166=) c.435T>G (p.Gly145=) | |
6 | g.36684498G>A | CA363834616 | CDKN1A | c.397G>A (p.Gly133Arg) n.591G>A n.616G>A c.499G>A (p.Gly167Arg) c.436G>A (p.Gly146Arg) | dbSNP gnomAD v4 |
6 | g.36684498G>C | CA363834617 | CDKN1A | c.397G>C (p.Gly133Arg) n.591G>C n.616G>C c.499G>C (p.Gly167Arg) c.436G>C (p.Gly146Arg) | |
6 | g.36684498G>T | CA363834618 | CDKN1A | c.397G>T (p.Gly133Ter) n.591G>T n.616G>T c.499G>T (p.Gly167Ter) c.436G>T (p.Gly146Ter) | |
6 | g.36684499G>A | CA363834619 | CDKN1A | c.398G>A (p.Gly133Glu) n.592G>A c.500G>A (p.Gly167Glu) c.437G>A (p.Gly146Glu) | gnomAD v4 |
6 | g.36684499G>C | CA363834620 | CDKN1A | c.398G>C (p.Gly133Ala) n.592G>C c.500G>C (p.Gly167Ala) c.437G>C (p.Gly146Ala) | |
6 | g.36684499G= | CA1621457063 | CDKN1A | c.398G= (p.Gly133=) n.592G= c.500G= (p.Gly167=) c.437G= (p.Gly146=) | |
6 | g.36684499G>T | CA3780399 | CDKN1A | c.398G>T (p.Gly133Val) n.592G>T c.500G>T (p.Gly167Val) c.437G>T (p.Gly146Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684500A>C | CA450129156 | CDKN1A | c.399A>C (p.Gly133=) n.593A>C c.501A>C (p.Gly167=) c.438A>C (p.Gly146=) | |
6 | g.36684500A>G | CA450129158 | CDKN1A | c.399A>G (p.Gly133=) n.593A>G c.501A>G (p.Gly167=) c.438A>G (p.Gly146=) | dbSNP |
6 | g.36684500A>T | CA450129157 | CDKN1A | c.399A>T (p.Gly133=) n.593A>T c.501A>T (p.Gly167=) c.438A>T (p.Gly146=) | dbSNP |
6 | g.36684501C>A | CA363834621 | CDKN1A | c.400C>A (p.Pro134Thr) n.594C>A c.502C>A (p.Pro168Thr) c.439C>A (p.Pro147Thr) | |
6 | g.36684501C= | CA1621457064 | CDKN1A | c.400C= (p.Pro134=) n.594C= c.502C= (p.Pro168=) c.439C= (p.Pro147=) | |
6 | g.36684501C>G | CA363834622 | CDKN1A | c.400C>G (p.Pro134Ala) n.594C>G c.502C>G (p.Pro168Ala) c.439C>G (p.Pro147Ala) | |
6 | g.36684501C>T | CA363834623 | CDKN1A | c.400C>T (p.Pro134Ser) n.594C>T c.502C>T (p.Pro168Ser) c.439C>T (p.Pro147Ser) | dbSNP gnomAD v2 |
6 | g.36684502C>A | CA363834625 | CDKN1A | c.401C>A (p.Pro134His) n.595C>A c.503C>A (p.Pro168His) c.440C>A (p.Pro147His) | |
6 | g.36684502C= | CA1621457065 | CDKN1A | c.401C= (p.Pro134=) n.595C= c.503C= (p.Pro168=) c.440C= (p.Pro147=) | |
6 | g.36684502C>G | CA363834624 | CDKN1A | c.401C>G (p.Pro134Arg) n.595C>G c.503C>G (p.Pro168Arg) c.440C>G (p.Pro147Arg) | |
6 | g.36684502C>T | CA3780400 | CDKN1A | c.401C>T (p.Pro134Leu) n.595C>T c.503C>T (p.Pro168Leu) c.440C>T (p.Pro147Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684503T>A | CA450129159 | CDKN1A | c.402T>A (p.Pro134=) n.596T>A c.504T>A (p.Pro168=) c.441T>A (p.Pro147=) | |
6 | g.36684503T>C | CA450129160 | CDKN1A | c.402T>C (p.Pro134=) n.596T>C c.504T>C (p.Pro168=) c.441T>C (p.Pro147=) | |
6 | g.36684503T>G | CA450129161 | CDKN1A | c.402T>G (p.Pro134=) n.596T>G c.504T>G (p.Pro168=) c.441T>G (p.Pro147=) | |
6 | g.36684504G>A | CA363834626 | CDKN1A | c.403G>A (p.Gly135Arg) n.597G>A c.505G>A (p.Gly169Arg) c.442G>A (p.Gly148Arg) | |
6 | g.36684504G>C | CA363834627 | CDKN1A | c.403G>C (p.Gly135Arg) n.597G>C c.505G>C (p.Gly169Arg) c.442G>C (p.Gly148Arg) | |
6 | g.36684504G>T | CA363834628 | CDKN1A | c.403G>T (p.Gly135Ter) n.597G>T c.505G>T (p.Gly169Ter) c.442G>T (p.Gly148Ter) | |
6 | g.36684505G>A | CA363834629 | CDKN1A | c.404G>A (p.Gly135Glu) n.598G>A c.506G>A (p.Gly169Glu) c.443G>A (p.Gly148Glu) | gnomAD v4 |
6 | g.36684505G>C | CA363834630 | CDKN1A | c.404G>C (p.Gly135Ala) n.598G>C c.506G>C (p.Gly169Ala) c.443G>C (p.Gly148Ala) | |
6 | g.36684505G>T | CA363834631 | CDKN1A | c.404G>T (p.Gly135Val) n.598G>T c.506G>T (p.Gly169Val) c.443G>T (p.Gly148Val) | |
6 | g.36684506A>C | CA450129162 | CDKN1A | c.405A>C (p.Gly135=) n.599A>C c.507A>C (p.Gly169=) c.444A>C (p.Gly148=) | |
6 | g.36684506A>G | CA450129163 | CDKN1A | c.405A>G (p.Gly135=) n.599A>G c.507A>G (p.Gly169=) c.444A>G (p.Gly148=) | |
6 | g.36684506A>T | CA450129164 | CDKN1A | c.405A>T (p.Gly135=) n.599A>T c.507A>T (p.Gly169=) c.444A>T (p.Gly148=) | |
6 | g.36684507G>A | CA363834632 | CDKN1A | c.406G>A (p.Asp136Asn) n.600G>A c.508G>A (p.Asp170Asn) c.445G>A (p.Asp149Asn) | gnomAD v4 |
6 | g.36684507G>C | CA363834633 | CDKN1A | c.406G>C (p.Asp136His) n.600G>C c.508G>C (p.Asp170His) c.445G>C (p.Asp149His) | COSMIC |
6 | g.36684507G>T | CA363834634 | CDKN1A | c.406G>T (p.Asp136Tyr) n.600G>T c.508G>T (p.Asp170Tyr) c.445G>T (p.Asp149Tyr) | gnomAD v4 |
6 | g.36684508A= | CA1621457066 | CDKN1A | c.407A= (p.Asp136=) n.601A= c.509A= (p.Asp170=) c.446A= (p.Asp149=) | |
6 | g.36684508A>C | CA363834635 | CDKN1A | c.407A>C (p.Asp136Ala) n.601A>C c.509A>C (p.Asp170Ala) c.446A>C (p.Asp149Ala) | |
6 | g.36684508A>G | CA363834636 | CDKN1A | c.407A>G (p.Asp136Gly) n.601A>G c.509A>G (p.Asp170Gly) c.446A>G (p.Asp149Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684508A>T | CA363834637 | CDKN1A | c.407A>T (p.Asp136Val) n.601A>T c.509A>T (p.Asp170Val) c.446A>T (p.Asp149Val) | |
6 | g.36684509C>A | CA363834638 | CDKN1A | c.408C>A (p.Asp136Glu) n.602C>A c.510C>A (p.Asp170Glu) c.447C>A (p.Asp149Glu) | |
6 | g.36684509C>G | CA363834639 | CDKN1A | c.408C>G (p.Asp136Glu) n.602C>G c.510C>G (p.Asp170Glu) c.447C>G (p.Asp149Glu) | |
6 | g.36684509C>T | CA450129165 | CDKN1A | c.408C>T (p.Asp136=) n.602C>T c.510C>T (p.Asp170=) c.447C>T (p.Asp149=) | |
6 | g.36684509_36684510delinsTA | CA645545327 | CDKN1A | c.408_409delinsTA (p.Ser137Thr) n.602_603delinsTA c.510_511delinsTA (p.Ser171Thr) c.447_448delinsTA (p.Ser150Thr) | COSMIC COSMIC |
6 | g.36684512_36684513del | CA2538009745 | CDKN1A | c.411_412del (p.Gln138GlyfsTer?) c.513_514del (p.Gln172GlyfsTer?) c.450_451del (p.Gln151GlyfsTer?) c.411_412del (p.Gln138GlyfsTer21) | |
6 | g.36684510T>A | CA363834642 | CDKN1A | c.409T>A (p.Ser137Thr) n.603T>A c.511T>A (p.Ser171Thr) c.448T>A (p.Ser150Thr) | |
6 | g.36684510T>C | CA363834641 | CDKN1A | c.409T>C (p.Ser137Pro) n.603T>C c.511T>C (p.Ser171Pro) c.448T>C (p.Ser150Pro) | gnomAD v4 |
6 | g.36684510T>G | CA363834640 | CDKN1A | c.409T>G (p.Ser137Ala) n.603T>G c.511T>G (p.Ser171Ala) c.448T>G (p.Ser150Ala) | |
6 | g.36684511C>A | CA363834643 | CDKN1A | c.410C>A (p.Ser137Tyr) n.604C>A c.512C>A (p.Ser171Tyr) c.449C>A (p.Ser150Tyr) | dbSNP |
6 | g.36684511C>G | CA363834644 | CDKN1A | c.410C>G (p.Ser137Cys) n.604C>G c.512C>G (p.Ser171Cys) c.449C>G (p.Ser150Cys) | |
6 | g.36684511C>T | CA363834645 | CDKN1A | c.410C>T (p.Ser137Phe) n.604C>T c.512C>T (p.Ser171Phe) c.449C>T (p.Ser150Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684512T>A | CA450129166 | CDKN1A | c.411T>A (p.Ser137=) c.513T>A (p.Ser171=) c.450T>A (p.Ser150=) | |
6 | g.36684512T>C | CA450129168 | CDKN1A | c.411T>C (p.Ser137=) c.513T>C (p.Ser171=) c.450T>C (p.Ser150=) | |
6 | g.36684512T>G | CA450129167 | CDKN1A | c.411T>G (p.Ser137=) c.513T>G (p.Ser171=) c.450T>G (p.Ser150=) | |
6 | g.36684513C>A | CA363834646 | CDKN1A | c.412C>A (p.Gln138Lys) c.514C>A (p.Gln172Lys) c.451C>A (p.Gln151Lys) | |
6 | g.36684513C>G | CA363834647 | CDKN1A | c.412C>G (p.Gln138Glu) c.514C>G (p.Gln172Glu) c.451C>G (p.Gln151Glu) | gnomAD v4 COSMIC |
6 | g.36684513C>T | CA363834648 | CDKN1A | c.412C>T (p.Gln138Ter) c.514C>T (p.Gln172Ter) c.451C>T (p.Gln151Ter) | |
6 | g.36684514A>C | CA363834649 | CDKN1A | c.413A>C (p.Gln138Pro) c.515A>C (p.Gln172Pro) c.452A>C (p.Gln151Pro) | |
6 | g.36684514A>G | CA363834650 | CDKN1A | c.413A>G (p.Gln138Arg) c.515A>G (p.Gln172Arg) c.452A>G (p.Gln151Arg) | dbSNP |
6 | g.36684514A>T | CA363834651 | CDKN1A | c.413A>T (p.Gln138Leu) c.515A>T (p.Gln172Leu) c.452A>T (p.Gln151Leu) | |
6 | g.36684515G>A | CA450129169 | CDKN1A | c.414G>A (p.Gln138=) c.516G>A (p.Gln172=) c.453G>A (p.Gln151=) | |
6 | g.36684515G>C | CA363834652 | CDKN1A | c.414G>C (p.Gln138His) c.516G>C (p.Gln172His) c.453G>C (p.Gln151His) | |
6 | g.36684515G>T | CA363834653 | CDKN1A | c.414G>T (p.Gln138His) c.516G>T (p.Gln172His) c.453G>T (p.Gln151His) | |
6 | g.36684516G>A | CA363834654 | CDKN1A | c.415G>A (p.Gly139Ser) c.517G>A (p.Gly173Ser) c.454G>A (p.Gly152Ser) | |
6 | g.36684516G>C | CA363834655 | CDKN1A | c.415G>C (p.Gly139Arg) c.517G>C (p.Gly173Arg) c.454G>C (p.Gly152Arg) | dbSNP gnomAD v4 |
6 | g.36684516G= | CA1621457067 | CDKN1A | c.415G= (p.Gly139=) c.517G= (p.Gly173=) c.454G= (p.Gly152=) | |
6 | g.36684516G>T | CA363834656 | CDKN1A | c.415G>T (p.Gly139Cys) c.517G>T (p.Gly173Cys) c.454G>T (p.Gly152Cys) | gnomAD v4 |
6 | g.36684517G>A | CA363834658 | CDKN1A | c.416G>A (p.Gly139Asp) c.518G>A (p.Gly173Asp) c.455G>A (p.Gly152Asp) | |
6 | g.36684517G>C | CA363834659 | CDKN1A | c.416G>C (p.Gly139Ala) c.518G>C (p.Gly173Ala) c.455G>C (p.Gly152Ala) | |
6 | g.36684517G= | CA1621457068 | CDKN1A | c.416G= (p.Gly139=) c.518G= (p.Gly173=) c.455G= (p.Gly152=) | |
6 | g.36684517G>T | CA363834657 | CDKN1A | c.416G>T (p.Gly139Val) c.518G>T (p.Gly173Val) c.455G>T (p.Gly152Val) | dbSNP |
6 | g.36684518T>A | CA450129173 | CDKN1A | c.417T>A (p.Gly139=) c.519T>A (p.Gly173=) c.456T>A (p.Gly152=) | dbSNP |
6 | g.36684518T>C | CA450129174 | CDKN1A | c.417T>C (p.Gly139=) c.519T>C (p.Gly173=) c.456T>C (p.Gly152=) | dbSNP |
6 | g.36684518T>G | CA450129175 | CDKN1A | c.417T>G (p.Gly139=) c.519T>G (p.Gly173=) c.456T>G (p.Gly152=) | dbSNP |
6 | g.36684518T= | CA1621457069 | CDKN1A | c.417T= (p.Gly139=) c.519T= (p.Gly173=) c.456T= (p.Gly152=) | |
6 | g.36684519C>A | CA450129176 | CDKN1A | c.418C>A (p.Arg140=) c.520C>A (p.Arg174=) c.457C>A (p.Arg153=) | |
6 | g.36684519C= | CA1621457070 | CDKN1A | c.418C= (p.Arg140=) c.520C= (p.Arg174=) c.457C= (p.Arg153=) | |
6 | g.36684519C>G | CA363834660 | CDKN1A | c.418C>G (p.Arg140Gly) c.520C>G (p.Arg174Gly) c.457C>G (p.Arg153Gly) | gnomAD v4 |
6 | g.36684519C>T | CA3780401 | CDKN1A | c.418C>T (p.Arg140Ter) c.520C>T (p.Arg174Ter) c.457C>T (p.Arg153Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.36684520G>A | CA3780402 | CDKN1A | c.419G>A (p.Arg140Gln) c.521G>A (p.Arg174Gln) c.458G>A (p.Arg153Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.36684520G>C | CA363834661 | CDKN1A | c.419G>C (p.Arg140Pro) c.521G>C (p.Arg174Pro) c.458G>C (p.Arg153Pro) | |
6 | g.36684520G= | CA1621457071 | CDKN1A | c.419G= (p.Arg140=) c.521G= (p.Arg174=) c.458G= (p.Arg153=) | |
6 | g.36684520G>T | CA363834662 | CDKN1A | c.419G>T (p.Arg140Leu) c.521G>T (p.Arg174Leu) c.458G>T (p.Arg153Leu) | gnomAD v4 |
6 | g.36684520_36684521del | CA645545328 | CDKN1A | c.419_420del (p.Arg140GlnfsTer?) c.521_522del (p.Arg174GlnfsTer?) c.458_459del (p.Arg153GlnfsTer?) c.419_420del (p.Arg140GlnfsTer19) | COSMIC COSMIC |
6 | g.36684521A= | CA1621457072 | CDKN1A | c.420A= (p.Arg140=) c.522A= (p.Arg174=) c.459A= (p.Arg153=) | |
6 | g.36684521A>C | CA450129178 | CDKN1A | c.420A>C (p.Arg140=) c.522A>C (p.Arg174=) c.459A>C (p.Arg153=) | |
6 | g.36684521A>G | CA3780403 | CDKN1A | c.420A>G (p.Arg140=) c.522A>G (p.Arg174=) c.459A>G (p.Arg153=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684521A>T | CA450129179 | CDKN1A | c.420A>T (p.Arg140=) c.522A>T (p.Arg174=) c.459A>T (p.Arg153=) | |
6 | g.36684524dup | CA2678467019 | CDKN1A | c.423dup (p.Arg142ThrfsTer?) c.525dup (p.Arg176ThrfsTer?) c.462dup (p.Arg155ThrfsTer?) c.423dup (p.Arg142ThrfsTer18) | gnomAD v4 |
6 | g.36684522A>C | CA363834663 | CDKN1A | c.421A>C (p.Lys141Gln) c.523A>C (p.Lys175Gln) c.460A>C (p.Lys154Gln) | |
6 | g.36684522A>G | CA363834664 | CDKN1A | c.421A>G (p.Lys141Glu) c.523A>G (p.Lys175Glu) c.460A>G (p.Lys154Glu) | |
6 | g.36684522A>T | CA363834665 | CDKN1A | c.421A>T (p.Lys141Ter) c.523A>T (p.Lys175Ter) c.460A>T (p.Lys154Ter) | |
6 | g.36684523A>C | CA363834666 | CDKN1A | c.422A>C (p.Lys141Thr) c.524A>C (p.Lys175Thr) c.461A>C (p.Lys154Thr) | |
6 | g.36684523A>G | CA363834667 | CDKN1A | c.422A>G (p.Lys141Arg) c.524A>G (p.Lys175Arg) c.461A>G (p.Lys154Arg) | |
6 | g.36684523A>T | CA363834668 | CDKN1A | c.422A>T (p.Lys141Ile) c.524A>T (p.Lys175Ile) c.461A>T (p.Lys154Ile) | |
6 | g.36684524A>C | CA363834669 | CDKN1A | c.423A>C (p.Lys141Asn) c.525A>C (p.Lys175Asn) c.462A>C (p.Lys154Asn) | |
6 | g.36684524A>G | CA450129183 | CDKN1A | c.423A>G (p.Lys141=) c.525A>G (p.Lys175=) c.462A>G (p.Lys154=) | gnomAD v4 |
6 | g.36684524A>T | CA363834670 | CDKN1A | c.423A>T (p.Lys141Asn) c.525A>T (p.Lys175Asn) c.462A>T (p.Lys154Asn) | |
6 | g.36684525C>A | CA450129184 | CDKN1A | c.424C>A (p.Arg142=) c.526C>A (p.Arg176=) c.463C>A (p.Arg155=) | |
6 | g.36684525C= | CA1621457073 | CDKN1A | c.424C= (p.Arg142=) c.526C= (p.Arg176=) c.463C= (p.Arg155=) | |
6 | g.36684525C>G | CA363834671 | CDKN1A | c.424C>G (p.Arg142Gly) c.526C>G (p.Arg176Gly) c.463C>G (p.Arg155Gly) | |
6 | g.36684525C>T | CA3780404 | CDKN1A | c.424C>T (p.Arg142Trp) c.526C>T (p.Arg176Trp) c.463C>T (p.Arg155Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684526G>A | CA3780405 | CDKN1A | c.425G>A (p.Arg142Gln) c.527G>A (p.Arg176Gln) c.464G>A (p.Arg155Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684526G>C | CA363834672 | CDKN1A | c.425G>C (p.Arg142Pro) c.527G>C (p.Arg176Pro) c.464G>C (p.Arg155Pro) | gnomAD v4 |
6 | g.36684526G= | CA1621457074 | CDKN1A | c.425G= (p.Arg142=) c.527G= (p.Arg176=) c.464G= (p.Arg155=) | |
6 | g.36684526G>T | CA363834673 | CDKN1A | c.425G>T (p.Arg142Leu) c.527G>T (p.Arg176Leu) c.464G>T (p.Arg155Leu) | |
6 | g.36684527G>A | CA450129187 | CDKN1A | c.426G>A (p.Arg142=) c.528G>A (p.Arg176=) c.465G>A (p.Arg155=) | dbSNP |
6 | g.36684527G>C | CA450129188 | CDKN1A | c.426G>C (p.Arg142=) c.528G>C (p.Arg176=) c.465G>C (p.Arg155=) | |
6 | g.36684527G= | CA1621457075 | CDKN1A | c.426G= (p.Arg142=) c.528G= (p.Arg176=) c.465G= (p.Arg155=) | |
6 | g.36684527G>T | CA450129189 | CDKN1A | c.426G>T (p.Arg142=) c.528G>T (p.Arg176=) c.465G>T (p.Arg155=) | |
6 | g.36684528C>A | CA450129190 | CDKN1A | c.427C>A (p.Arg143=) c.529C>A (p.Arg177=) c.466C>A (p.Arg156=) | |
6 | g.36684528C= | CA1621457076 | CDKN1A | c.427C= (p.Arg143=) c.529C= (p.Arg177=) c.466C= (p.Arg156=) | |
6 | g.36684528C>G | CA363834674 | CDKN1A | c.427C>G (p.Arg143Gly) c.529C>G (p.Arg177Gly) c.466C>G (p.Arg156Gly) | dbSNP |
6 | g.36684528C>T | CA3780406 | CDKN1A | c.427C>T (p.Arg143Trp) c.529C>T (p.Arg177Trp) c.466C>T (p.Arg156Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684529G>A | CA3780407 | CDKN1A | c.428G>A (p.Arg143Gln) c.530G>A (p.Arg177Gln) c.467G>A (p.Arg156Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684529G>C | CA363834675 | CDKN1A | c.428G>C (p.Arg143Pro) c.530G>C (p.Arg177Pro) c.467G>C (p.Arg156Pro) | |
6 | g.36684529G= | CA1621457077 | CDKN1A | c.428G= (p.Arg143=) c.530G= (p.Arg177=) c.467G= (p.Arg156=) | |
6 | g.36684529G>T | CA363834676 | CDKN1A | c.428G>T (p.Arg143Leu) c.530G>T (p.Arg177Leu) c.467G>T (p.Arg156Leu) | |
6 | g.36684530G>A | CA450129192 | CDKN1A | c.429G>A (p.Arg143=) c.531G>A (p.Arg177=) c.468G>A (p.Arg156=) | dbSNP |
6 | g.36684530G>C | CA450129193 | CDKN1A | c.429G>C (p.Arg143=) c.531G>C (p.Arg177=) c.468G>C (p.Arg156=) | |
6 | g.36684530G>T | CA450129194 | CDKN1A | c.429G>T (p.Arg143=) c.531G>T (p.Arg177=) c.468G>T (p.Arg156=) | gnomAD v4 |
6 | g.36684531C>A | CA363834677 | CDKN1A | c.430C>A (p.Gln144Lys) c.532C>A (p.Gln178Lys) c.469C>A (p.Gln157Lys) | |
6 | g.36684531C= | CA1621457078 | CDKN1A | c.430C= (p.Gln144=) c.532C= (p.Gln178=) c.469C= (p.Gln157=) | |
6 | g.36684531C>G | CA363834678 | CDKN1A | c.430C>G (p.Gln144Glu) c.532C>G (p.Gln178Glu) c.469C>G (p.Gln157Glu) | dbSNP |
6 | g.36684531C>T | CA363834679 | CDKN1A | c.430C>T (p.Gln144Ter) c.532C>T (p.Gln178Ter) c.469C>T (p.Gln157Ter) | dbSNP |
6 | g.36684531dup | CA2840993099 | CDKN1A | c.430dup (p.Gln144ProfsTer?) c.532dup (p.Gln178ProfsTer?) c.469dup (p.Gln157ProfsTer?) c.430dup (p.Gln144ProfsTer16) | |
6 | g.36684532A>C | CA363834680 | CDKN1A | c.431A>C (p.Gln144Pro) c.533A>C (p.Gln178Pro) c.470A>C (p.Gln157Pro) | |
6 | g.36684532A>G | CA363834682 | CDKN1A | c.431A>G (p.Gln144Arg) c.533A>G (p.Gln178Arg) c.470A>G (p.Gln157Arg) | |
6 | g.36684532A>T | CA363834681 | CDKN1A | c.431A>T (p.Gln144Leu) c.533A>T (p.Gln178Leu) c.470A>T (p.Gln157Leu) | |
6 | g.36684533G>A | CA450129195 | CDKN1A | c.432G>A (p.Gln144=) c.534G>A (p.Gln178=) c.471G>A (p.Gln157=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684533G>C | CA363834683 | CDKN1A | c.432G>C (p.Gln144His) c.534G>C (p.Gln178His) c.471G>C (p.Gln157His) | |
6 | g.36684533G= | CA1621457079 | CDKN1A | c.432G= (p.Gln144=) c.534G= (p.Gln178=) c.471G= (p.Gln157=) | |
6 | g.36684533G>T | CA3780408 | CDKN1A | c.432G>T (p.Gln144His) c.534G>T (p.Gln178His) c.471G>T (p.Gln157His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684534A>C | CA363834684 | CDKN1A | c.433A>C (p.Thr145Pro) c.535A>C (p.Thr179Pro) c.472A>C (p.Thr158Pro) | |
6 | g.36684534A>G | CA363834686 | CDKN1A | c.433A>G (p.Thr145Ala) c.535A>G (p.Thr179Ala) c.472A>G (p.Thr158Ala) | |
6 | g.36684534A>T | CA363834685 | CDKN1A | c.433A>T (p.Thr145Ser) c.535A>T (p.Thr179Ser) c.472A>T (p.Thr158Ser) | |
6 | g.36684535C>A | CA363834687 | CDKN1A | c.434C>A (p.Thr145Asn) c.536C>A (p.Thr179Asn) c.473C>A (p.Thr158Asn) | |
6 | g.36684535C>G | CA363834688 | CDKN1A | c.434C>G (p.Thr145Ser) c.536C>G (p.Thr179Ser) c.473C>G (p.Thr158Ser) | dbSNP |
6 | g.36684535C>T | CA363834689 | CDKN1A | c.434C>T (p.Thr145Ile) c.536C>T (p.Thr179Ile) c.473C>T (p.Thr158Ile) | dbSNP |
6 | g.36684536dup | CA2838213504 | CDKN1A | c.435dup (p.Ser146GlnfsTer?) c.537dup (p.Ser180GlnfsTer?) c.474dup (p.Ser159GlnfsTer?) c.435dup (p.Ser146GlnfsTer14) | |
6 | g.36684536del | CA2839932644 | CDKN1A | c.435del (p.Ser146AlafsTer2) c.537del (p.Ser180AlafsTer2) c.474del (p.Ser159AlafsTer2) | |
6 | g.36684536C>A | CA450129197 | CDKN1A | c.435C>A (p.Thr145=) c.537C>A (p.Thr179=) c.474C>A (p.Thr158=) | |
6 | g.36684536C>G | CA450129198 | CDKN1A | c.435C>G (p.Thr145=) c.537C>G (p.Thr179=) c.474C>G (p.Thr158=) | |
6 | g.36684536C>T | CA450129200 | CDKN1A | c.435C>T (p.Thr145=) c.537C>T (p.Thr179=) c.474C>T (p.Thr158=) | gnomAD v4 |
6 | g.36684537A>C | CA363834690 | CDKN1A | c.436A>C (p.Ser146Arg) c.538A>C (p.Ser180Arg) c.475A>C (p.Ser159Arg) | |
6 | g.36684537A>G | CA363834691 | CDKN1A | c.436A>G (p.Ser146Gly) c.538A>G (p.Ser180Gly) c.475A>G (p.Ser159Gly) | |
6 | g.36684537A>T | CA363834692 | CDKN1A | c.436A>T (p.Ser146Cys) c.538A>T (p.Ser180Cys) c.475A>T (p.Ser159Cys) | |
6 | g.36684538G>A | CA363834693 | CDKN1A | c.437G>A (p.Ser146Asn) c.539G>A (p.Ser180Asn) c.476G>A (p.Ser159Asn) | dbSNP |
6 | g.36684538G>C | CA363834694 | CDKN1A | c.437G>C (p.Ser146Thr) c.539G>C (p.Ser180Thr) c.476G>C (p.Ser159Thr) | |
6 | g.36684538G>T | CA363834695 | CDKN1A | c.437G>T (p.Ser146Ile) c.539G>T (p.Ser180Ile) c.476G>T (p.Ser159Ile) | |
6 | g.36684539C>A | CA363834696 | CDKN1A | c.438C>A (p.Ser146Arg) c.540C>A (p.Ser180Arg) c.477C>A (p.Ser159Arg) | |
6 | g.36684539C= | CA1621457080 | CDKN1A | c.438C= (p.Ser146=) c.540C= (p.Ser180=) c.477C= (p.Ser159=) | |
6 | g.36684539C>G | CA363834697 | CDKN1A | c.438C>G (p.Ser146Arg) c.540C>G (p.Ser180Arg) c.477C>G (p.Ser159Arg) | |
6 | g.36684539C>T | CA3780409 | CDKN1A | c.438C>T (p.Ser146=) c.540C>T (p.Ser180=) c.477C>T (p.Ser159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684540A= | CA1621457081 | CDKN1A | c.439A= (p.Met147=) c.541A= (p.Met181=) c.478A= (p.Met160=) | |
6 | g.36684540A>C | CA3780411 | CDKN1A | c.439A>C (p.Met147Leu) c.541A>C (p.Met181Leu) c.478A>C (p.Met160Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684540A>G | CA3780410 | CDKN1A | c.439A>G (p.Met147Val) c.541A>G (p.Met181Val) c.478A>G (p.Met160Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684540A>T | CA363834698 | CDKN1A | c.439A>T (p.Met147Leu) c.541A>T (p.Met181Leu) c.478A>T (p.Met160Leu) | |
6 | g.36684540dup | CA2840993100 | CDKN1A | c.439dup (p.Met147AsnfsTer?) c.541dup (p.Met181AsnfsTer?) c.478dup (p.Met160AsnfsTer?) c.439dup (p.Met147AsnfsTer13) | |
6 | g.36684541T>A | CA363834699 | CDKN1A | c.440T>A (p.Met147Lys) c.542T>A (p.Met181Lys) c.479T>A (p.Met160Lys) | |
6 | g.36684541T>C | CA363834700 | CDKN1A | c.440T>C (p.Met147Thr) c.542T>C (p.Met181Thr) c.479T>C (p.Met160Thr) | |
6 | g.36684541T>G | CA363834701 | CDKN1A | c.440T>G (p.Met147Arg) c.542T>G (p.Met181Arg) c.479T>G (p.Met160Arg) | |
6 | g.36684541T= | CA1621457082 | CDKN1A | c.440T= (p.Met147=) c.542T= (p.Met181=) c.479T= (p.Met160=) | |
6 | g.36684541dup | CA2840993101 | CDKN1A | c.440dup (p.Met147IlefsTer?) c.542dup (p.Met181IlefsTer?) c.479dup (p.Met160IlefsTer?) c.440dup (p.Met147IlefsTer13) | |
6 | g.36684542G>A | CA363834702 | CDKN1A | c.441G>A (p.Met147Ile) c.543G>A (p.Met181Ile) c.480G>A (p.Met160Ile) | |
6 | g.36684542G>C | CA363834703 | CDKN1A | c.441G>C (p.Met147Ile) c.543G>C (p.Met181Ile) c.480G>C (p.Met160Ile) | |
6 | g.36684542G>T | CA363834704 | CDKN1A | c.441G>T (p.Met147Ile) c.543G>T (p.Met181Ile) c.480G>T (p.Met160Ile) | gnomAD v4 |
6 | g.36684546_36684555dup | CA3780412 | CDKN1A | c.445_445+9dup c.547_547+9dup c.484_484+9dup c.445_454dup (p.Met152ArgfsTer11) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684543A>C | CA363834705 | CDKN1A | c.442A>C (p.Thr148Pro) c.544A>C (p.Thr182Pro) c.481A>C (p.Thr161Pro) | |
6 | g.36684543A>G | CA363834706 | CDKN1A | c.442A>G (p.Thr148Ala) c.544A>G (p.Thr182Ala) c.481A>G (p.Thr161Ala) | |
6 | g.36684543A>T | CA363834707 | CDKN1A | c.442A>T (p.Thr148Ser) c.544A>T (p.Thr182Ser) c.481A>T (p.Thr161Ser) | |
6 | g.36684544C>A | CA363834709 | CDKN1A | c.443C>A (p.Thr148Lys) c.545C>A (p.Thr182Lys) c.482C>A (p.Thr161Lys) | |
6 | g.36684544C>G | CA363834710 | CDKN1A | c.443C>G (p.Thr148Arg) c.545C>G (p.Thr182Arg) c.482C>G (p.Thr161Arg) | |
6 | g.36684544C>T | CA363834708 | CDKN1A | c.443C>T (p.Thr148Ile) c.545C>T (p.Thr182Ile) c.482C>T (p.Thr161Ile) | |
6 | g.36684545A>C | CA450129204 | CDKN1A | c.444A>C (p.Thr148=) c.546A>C (p.Thr182=) c.483A>C (p.Thr161=) | |
6 | g.36684545A>G | CA450129205 | CDKN1A | c.444A>G (p.Thr148=) c.546A>G (p.Thr182=) c.483A>G (p.Thr161=) | |
6 | g.36684545A>T | CA450129206 | CDKN1A | c.444A>T (p.Thr148=) c.546A>T (p.Thr182=) c.483A>T (p.Thr161=) | |
6 | g.36684545_36684546del | CA2578600455 | CDKN1A | c.444_445del (p.Asp149PhefsTer?) c.546_547del (p.Asp183PhefsTer?) c.483_484del (p.Asp162PhefsTer?) c.444_445del (p.Gly149CysfsTer10) c.444_445del (p.Val149LeufsTer?) | gnomAD v4 |
6 | g.36684546G>A | CA363834711 | CDKN1A | c.445G>A (p.Asp149Asn) c.547G>A (p.Asp183Asn) c.484G>A (p.Asp162Asn) c.445G>A (p.Gly149Ser) c.445G>A (p.Val149Ile) | dbSNP |
6 | g.36684546G>C | CA363834712 | CDKN1A | c.445G>C (p.Asp149His) c.547G>C (p.Asp183His) c.484G>C (p.Asp162His) c.445G>C (p.Gly149Arg) c.445G>C (p.Val149Leu) | dbSNP COSMIC COSMIC |
6 | g.36684546G= | CA1621457083 | CDKN1A | c.445G= (p.Asp149=) c.547G= (p.Asp183=) c.484G= (p.Asp162=) c.445G= (p.Gly149=) c.445G= (p.Val149=) | |
6 | g.36684546G>T | CA363834713 | CDKN1A | c.445G>T (p.Asp149Tyr) c.547G>T (p.Asp183Tyr) c.484G>T (p.Asp162Tyr) c.445G>T (p.Gly149Cys) c.445G>T (p.Val149Phe) | |
6 | g.36684547_36684549del | CA2711444419 | CDKN1A | c.445+1_445+3del c.547+1_547+3del c.484+1_484+3del c.446_448del (p.Gly149del) | dbSNP |
6 | g.36684546_36684547insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA | CA2711444442 | CDKN1A | c.445_445+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.445_445+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA) c.547_547+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.547_547+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA) c.484_484+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.484_484+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA) c.445_446insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (p.Gly149AspfsTer23) | dbSNP |
6 | g.36684547G>A | CA363834714 | CDKN1A | c.445+1G>A (n.445+1G>A) c.547+1G>A (n.547+1G>A) c.484+1G>A (n.484+1G>A) c.446G>A (p.Gly149Asp) | dbSNP |
6 | g.36684547G>C | CA363834715 | CDKN1A | c.445+1G>C (n.445+1G>C) c.547+1G>C (n.547+1G>C) c.484+1G>C (n.484+1G>C) c.446G>C (p.Gly149Ala) | |
6 | g.36684547G>T | CA363834716 | CDKN1A | c.445+1G>T (n.445+1G>T) c.547+1G>T (n.547+1G>T) c.484+1G>T (n.484+1G>T) c.446G>T (p.Gly149Val) | |
6 | g.36684548T>A | CA363834717 | CDKN1A | c.445+2T>A (n.445+2T>A) c.547+2T>A (n.547+2T>A) c.484+2T>A (n.484+2T>A) c.447T>A (p.Gly149=) | |
6 | g.36684548T>C | CA363834718 | CDKN1A | c.445+2T>C (n.445+2T>C) c.547+2T>C (n.547+2T>C) c.484+2T>C (n.484+2T>C) c.447T>C (p.Gly149=) | |
6 | g.36684548T>G | CA363834719 | CDKN1A | c.445+2T>G (n.445+2T>G) c.547+2T>G (n.547+2T>G) c.484+2T>G (n.484+2T>G) c.447T>G (p.Gly149=) | dbSNP |
6 | g.36684548T= | CA1621457084 | CDKN1A | c.445+2T= (n.445+2T=) c.547+2T= (n.547+2T=) c.484+2T= (n.484+2T=) c.447T= (p.Gly149=) | |
6 | g.36684548_36684549insTTCTACCACTCCAAAC | CA2711444454 | CDKN1A | c.445+2_445+3insTTCTACCACTCCAAAC (n.445+2_445+3insTTCTACCACTCCAAAC) c.547+2_547+3insTTCTACCACTCCAAAC (n.547+2_547+3insTTCTACCACTCCAAAC) c.484+2_484+3insTTCTACCACTCCAAAC (n.484+2_484+3insTTCTACCACTCCAAAC) c.447_448insTTCTACCACTCCAAAC (p.Ala150PhefsTer15) | dbSNP |
6 | g.36684549G>A | CA3780413 | CDKN1A | c.445+3G>A (n.445+3G>A) c.547+3G>A (n.547+3G>A) c.484+3G>A (n.484+3G>A) c.448G>A (p.Ala150Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684549G= | CA1621457085 | CDKN1A | c.445+3G= (n.445+3G=) c.547+3G= (n.547+3G=) c.484+3G= (n.484+3G=) c.448G= (p.Ala150=) | |
6 | g.36684549G>T | CA2840993102 | CDKN1A | c.445+3G>T (n.445+3G>T) c.547+3G>T (n.547+3G>T) c.484+3G>T (n.484+3G>T) c.448G>T (p.Ala150Ser) | |
6 | g.36684550C>A | CA2711129926 | CDKN1A | c.445+4C>A (n.445+4C>A) c.547+4C>A (n.547+4C>A) c.484+4C>A (n.484+4C>A) c.449C>A (p.Ala150Glu) | dbSNP |
6 | g.36684550C= | CA1621457086 | CDKN1A | c.445+4C= (n.445+4C=) c.547+4C= (n.547+4C=) c.484+4C= (n.484+4C=) c.449C= (p.Ala150=) | |
6 | g.36684550C>G | CA3780415 | CDKN1A | c.445+4C>G (n.445+4C>G) c.547+4C>G (n.547+4C>G) c.484+4C>G (n.484+4C>G) c.449C>G (p.Ala150Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684550C>T | CA3780414 | CDKN1A | c.445+4C>T (n.445+4C>T) c.547+4C>T (n.547+4C>T) c.484+4C>T (n.484+4C>T) c.449C>T (p.Ala150Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684551G>A | CA3780416 | CDKN1A | c.445+5G>A (n.445+5G>A) c.547+5G>A (n.547+5G>A) c.484+5G>A (n.484+5G>A) c.450G>A (p.Ala150=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684551G>C | CA2711131457 | CDKN1A | c.445+5G>C (n.445+5G>C) c.547+5G>C (n.547+5G>C) c.484+5G>C (n.484+5G>C) c.450G>C (p.Ala150=) | dbSNP |
6 | g.36684551G= | CA1621457087 | CDKN1A | c.445+5G= (n.445+5G=) c.547+5G= (n.547+5G=) c.484+5G= (n.484+5G=) c.450G= (p.Ala150=) | |
6 | g.36684551G>T | CA2678467025 | CDKN1A | c.445+5G>T (n.445+5G>T) c.547+5G>T (n.547+5G>T) c.484+5G>T (n.484+5G>T) c.450G>T (p.Ala150=) | gnomAD v4 |
6 | g.36684551_36684555del | CA2578600456 | CDKN1A | c.445+5_445+9del (n.445+5_445+9del) c.547+5_547+9del (n.547+5_547+9del) c.484+5_484+9del (n.484+5_484+9del) c.450_454del (p.Asp151ValfsTer7) | gnomAD v4 |