Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.33301893_33302183del | CA645612682 | CEBPA | c.239_529del (p.Asp80_Ala176del) c.-119_172del c.344_634del (p.Asp115_Ala211del) c.197_487del (p.Asp66_Ala162del) | COSMIC |
19 | g.33301951_33302015del | CA2584317484 | CEBPA | c.408_472del (p.Tyr138AspfsTer10) c.51_115del (p.Tyr19AspfsTer10) c.513_577del (p.Tyr173AspfsTer10) c.366_430del (p.Tyr124AspfsTer10) | gnomAD v4 |
19 | g.33302009_33302029dup | CA2573156217 | CEBPA | c.394_414dup (p.Tyr138_Leu139insGlyCysAlaAlaAlaGlyTyr) c.37_57dup (p.Tyr19_Leu20insGlyCysAlaAlaAlaGlyTyr) c.499_519dup (p.Tyr173_Leu174insGlyCysAlaAlaAlaGlyTyr) c.352_372dup (p.Tyr124_Leu125insGlyCysAlaAlaAlaGlyTyr) | ClinVar dbSNP gnomAD v4 |
19 | g.33302010_33302161del | CA645612697 | CEBPA | c.260_411del (p.Gln87LeufsTer?) c.-98_54del c.365_516del (p.Gln122LeufsTer?) c.218_369del (p.Gln73LeufsTer?) | COSMIC |
19 | g.33302013C>A | CA507007831 | CEBPA | c.402G>T (p.Ala134=) c.45G>T (p.Ala15=) c.507G>T (p.Ala169=) c.360G>T (p.Ala120=) | gnomAD v4 |
19 | g.33302013C= | CA2332660274 | CEBPA | c.402G= (p.Ala134=) c.45G= (p.Ala15=) c.507G= (p.Ala169=) c.360G= (p.Ala120=) | |
19 | g.33302013C>G | CA507007832 | CEBPA | c.402G>C (p.Ala134=) c.45G>C (p.Ala15=) c.507G>C (p.Ala169=) c.360G>C (p.Ala120=) | |
19 | g.33302013C>T | CA9363713 | CEBPA | c.402G>A (p.Ala134=) c.45G>A (p.Ala15=) c.507G>A (p.Ala169=) c.360G>A (p.Ala120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.33302016_33302017del | CA645612698 | CEBPA | c.401_402del (p.Ala134GlyfsTer?) c.44_45del (p.Ala15GlyfsTer?) c.506_507del (p.Ala169GlyfsTer?) c.359_360del (p.Ala120GlyfsTer?) | COSMIC |
19 | g.33302014G>A | CA405275029 | CEBPA | c.401C>T (p.Ala134Val) c.44C>T (p.Ala15Val) c.506C>T (p.Ala169Val) c.359C>T (p.Ala120Val) | dbSNP gnomAD v4 |
19 | g.33302014G>C | CA405275030 | CEBPA | c.401C>G (p.Ala134Gly) c.44C>G (p.Ala15Gly) c.506C>G (p.Ala169Gly) c.359C>G (p.Ala120Gly) | |
19 | g.33302014G>T | CA405275031 | CEBPA | c.401C>A (p.Ala134Glu) c.44C>A (p.Ala15Glu) c.506C>A (p.Ala169Glu) c.359C>A (p.Ala120Glu) | gnomAD v4 |
19 | g.33302015C>A | CA405275032 | CEBPA | c.400G>T (p.Ala134Ser) c.43G>T (p.Ala15Ser) c.505G>T (p.Ala169Ser) c.358G>T (p.Ala120Ser) | gnomAD v4 |
19 | g.33302015C>G | CA405275033 | CEBPA | c.400G>C (p.Ala134Pro) c.43G>C (p.Ala15Pro) c.505G>C (p.Ala169Pro) c.358G>C (p.Ala120Pro) | gnomAD v4 |
19 | g.33302015C>T | CA405275034 | CEBPA | c.400G>A (p.Ala134Thr) c.43G>A (p.Ala15Thr) c.505G>A (p.Ala169Thr) c.358G>A (p.Ala120Thr) | dbSNP gnomAD v4 |
19 | g.33302016G>A | CA507007833 | CEBPA | c.399C>T (p.Cys133=) c.42C>T (p.Cys14=) c.504C>T (p.Cys168=) c.357C>T (p.Cys119=) | ClinVar dbSNP gnomAD v4 |
19 | g.33302016G>C | CA405275035 | CEBPA | c.399C>G (p.Cys133Trp) c.42C>G (p.Cys14Trp) c.504C>G (p.Cys168Trp) c.357C>G (p.Cys119Trp) | dbSNP |
19 | g.33302016G>T | CA405275036 | CEBPA | c.399C>A (p.Cys133Ter) c.42C>A (p.Cys14Ter) c.504C>A (p.Cys168Ter) c.357C>A (p.Cys119Ter) | gnomAD v4 |
19 | g.33302017C>A | CA405275037 | CEBPA | c.398G>T (p.Cys133Phe) c.41G>T (p.Cys14Phe) c.503G>T (p.Cys168Phe) c.356G>T (p.Cys119Phe) | gnomAD v4 |
19 | g.33302017C= | CA2332660275 | CEBPA | c.398G= (p.Cys133=) c.41G= (p.Cys14=) c.503G= (p.Cys168=) c.356G= (p.Cys119=) | |
19 | g.33302017C>G | CA405275039 | CEBPA | c.398G>C (p.Cys133Ser) c.41G>C (p.Cys14Ser) c.503G>C (p.Cys168Ser) c.356G>C (p.Cys119Ser) | gnomAD v4 |
19 | g.33302017C>T | CA405275038 | CEBPA | c.398G>A (p.Cys133Tyr) c.41G>A (p.Cys14Tyr) c.503G>A (p.Cys168Tyr) c.356G>A (p.Cys119Tyr) | ClinVar dbSNP gnomAD v4 |
19 | g.33302018A= | CA2332660276 | CEBPA | c.397T= (p.Cys133=) c.40T= (p.Cys14=) c.502T= (p.Cys168=) c.355T= (p.Cys119=) | |
19 | g.33302018A>C | CA405275040 | CEBPA | c.397T>G (p.Cys133Gly) c.40T>G (p.Cys14Gly) c.502T>G (p.Cys168Gly) c.355T>G (p.Cys119Gly) | |
19 | g.33302018A>G | CA405275041 | CEBPA | c.397T>C (p.Cys133Arg) c.40T>C (p.Cys14Arg) c.502T>C (p.Cys168Arg) c.355T>C (p.Cys119Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.33302018A>T | CA405275042 | CEBPA | c.397T>A (p.Cys133Ser) c.40T>A (p.Cys14Ser) c.502T>A (p.Cys168Ser) c.355T>A (p.Cys119Ser) | |
19 | g.33302019G>A | CA16616056 | CEBPA | c.396C>T (p.Gly132=) c.39C>T (p.Gly13=) c.501C>T (p.Gly167=) c.354C>T (p.Gly118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33302019G>C | CA507007834 | CEBPA | c.396C>G (p.Gly132=) c.39C>G (p.Gly13=) c.501C>G (p.Gly167=) c.354C>G (p.Gly118=) | |
19 | g.33302019G= | CA2332660277 | CEBPA | c.396C= (p.Gly132=) c.39C= (p.Gly13=) c.501C= (p.Gly167=) c.354C= (p.Gly118=) | |
19 | g.33302019G>T | CA507007835 | CEBPA | c.396C>A (p.Gly132=) c.39C>A (p.Gly13=) c.501C>A (p.Gly167=) c.354C>A (p.Gly118=) | gnomAD v4 |
19 | g.33302020C>A | CA405275043 | CEBPA | c.395G>T (p.Gly132Val) c.38G>T (p.Gly13Val) c.500G>T (p.Gly167Val) c.353G>T (p.Gly118Val) | gnomAD v4 |
19 | g.33302020C>G | CA405275044 | CEBPA | c.395G>C (p.Gly132Ala) c.38G>C (p.Gly13Ala) c.500G>C (p.Gly167Ala) c.353G>C (p.Gly118Ala) | |
19 | g.33302020C>T | CA405275045 | CEBPA | c.395G>A (p.Gly132Asp) c.38G>A (p.Gly13Asp) c.500G>A (p.Gly167Asp) c.353G>A (p.Gly118Asp) | ClinVar gnomAD v4 |
19 | g.33302021C>A | CA307844320 | CEBPA | c.394G>T (p.Gly132Cys) c.37G>T (p.Gly13Cys) c.499G>T (p.Gly167Cys) c.352G>T (p.Gly118Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33302021C= | CA2332660278 | CEBPA | c.394G= (p.Gly132=) c.37G= (p.Gly13=) c.499G= (p.Gly167=) c.352G= (p.Gly118=) | |
19 | g.33302021C>G | CA405275046 | CEBPA | c.394G>C (p.Gly132Arg) c.37G>C (p.Gly13Arg) c.499G>C (p.Gly167Arg) c.352G>C (p.Gly118Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.33302021C>T | CA405275047 | CEBPA | c.394G>A (p.Gly132Ser) c.37G>A (p.Gly13Ser) c.499G>A (p.Gly167Ser) c.352G>A (p.Gly118Ser) | ClinVar gnomAD v4 |
19 | g.33302026_33302397del | CA645612699 | CEBPA | c.23_394del (p.Glu8_Tyr131del) c.-335_37del c.128_499del (p.Glu43_Tyr166del) c.-20_352del | COSMIC |
19 | g.33302022G>A | CA507007836 | CEBPA | c.393C>T (p.Tyr131=) c.36C>T (p.Tyr12=) c.498C>T (p.Tyr166=) c.351C>T (p.Tyr117=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.33302022G>C | CA405275048 | CEBPA | c.393C>G (p.Tyr131Ter) c.36C>G (p.Tyr12Ter) c.498C>G (p.Tyr166Ter) c.351C>G (p.Tyr117Ter) | dbSNP |
19 | g.33302022G= | CA2332660279 | CEBPA | c.393C= (p.Tyr131=) c.36C= (p.Tyr12=) c.498C= (p.Tyr166=) c.351C= (p.Tyr117=) | |
19 | g.33302022G>T | CA405275049 | CEBPA | c.393C>A (p.Tyr131Ter) c.36C>A (p.Tyr12Ter) c.498C>A (p.Tyr166Ter) c.351C>A (p.Tyr117Ter) | gnomAD v4 |
19 | g.33302023T>A | CA405275050 | CEBPA | c.392A>T (p.Tyr131Phe) c.35A>T (p.Tyr12Phe) c.497A>T (p.Tyr166Phe) c.350A>T (p.Tyr117Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33302023T>C | CA405275051 | CEBPA | c.392A>G (p.Tyr131Cys) c.35A>G (p.Tyr12Cys) c.497A>G (p.Tyr166Cys) c.350A>G (p.Tyr117Cys) | gnomAD v4 |
19 | g.33302023T>G | CA405275052 | CEBPA | c.392A>C (p.Tyr131Ser) c.35A>C (p.Tyr12Ser) c.497A>C (p.Tyr166Ser) c.350A>C (p.Tyr117Ser) | dbSNP |
19 | g.33302023T= | CA2332660280 | CEBPA | c.392A= (p.Tyr131=) c.35A= (p.Tyr12=) c.497A= (p.Tyr166=) c.350A= (p.Tyr117=) | |
19 | g.33302023dup | CA645612700 | CEBPA | c.392dup (p.Tyr131Ter) c.35dup (p.Tyr12Ter) c.497dup (p.Tyr166Ter) c.350dup (p.Tyr117Ter) | COSMIC |
19 | g.33302024A>C | CA405275053 | CEBPA | c.391T>G (p.Tyr131Asp) c.34T>G (p.Tyr12Asp) c.496T>G (p.Tyr166Asp) c.349T>G (p.Tyr117Asp) | |
19 | g.33302024A>G | CA405275055 | CEBPA | c.391T>C (p.Tyr131His) c.34T>C (p.Tyr12His) c.496T>C (p.Tyr166His) c.349T>C (p.Tyr117His) | dbSNP gnomAD v4 |
19 | g.33302024A>T | CA405275054 | CEBPA | c.391T>A (p.Tyr131Asn) c.34T>A (p.Tyr12Asn) c.496T>A (p.Tyr166Asn) c.349T>A (p.Tyr117Asn) |