UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7670616_7670715del | CA645587290 | TP53 | c.995_1094del (p.Ile332ThrfsTer5) c.599_698del (p.Ile200ThrfsTer5) c.716_815del (p.Ile239ThrfsTer5) c.974_1073del (p.Ile325ThrfsTer5) c.993+2821_993+2920del (n.993+2821_993+2920del) c.782+3467_782+3566del (n.782+3467_782+3566del) c.*102_*201del (n.*102_*201del) c.*14_*113del (n.*14_*113del) c.54-1024_54-925del c.878_977del (p.Ile293ThrfsTer5) c.962_1061del (p.Ile321ThrfsTer5) c.518_617del (p.Ile173ThrfsTer5) c.878_977del (p.Ile293ThrfsTer23) | COSMIC |
| 17 | g.7670617A>C | CA497712442 | TP53 | c.1092T>G (p.Ala364=) c.696T>G (p.Ala232=) c.813T>G (p.Ala271=) c.1071T>G (p.Ala357=) c.993+2918T>G (n.993+2918T>G) c.782+3564T>G (n.782+3564T>G) c.*199T>G (n.*199T>G) c.*111T>G (n.*111T>G) c.54-927T>G c.975T>G (p.Ala325=) c.1059T>G (p.Ala353=) c.615T>G (p.Ala205=) | |
| 17 | g.7670617A>G | CA497712438 | TP53 | c.1092T>C (p.Ala364=) c.696T>C (p.Ala232=) c.813T>C (p.Ala271=) c.1071T>C (p.Ala357=) c.993+2918T>C (n.993+2918T>C) c.782+3564T>C (n.782+3564T>C) c.*199T>C (n.*199T>C) c.*111T>C (n.*111T>C) c.54-927T>C c.975T>C (p.Ala325=) c.1059T>C (p.Ala353=) c.615T>C (p.Ala205=) | COSMIC COSMIC |
| 17 | g.7670617A>T | CA497712437 | TP53 | c.1092T>A (p.Ala364=) c.696T>A (p.Ala232=) c.813T>A (p.Ala271=) c.1071T>A (p.Ala357=) c.993+2918T>A (n.993+2918T>A) c.782+3564T>A (n.782+3564T>A) c.*199T>A (n.*199T>A) c.*111T>A (n.*111T>A) c.54-927T>A c.975T>A (p.Ala325=) c.1059T>A (p.Ala353=) c.615T>A (p.Ala205=) | dbSNP |
| 17 | g.7670618G>A | CA397831830 | TP53 | c.1091C>T (p.Ala364Val) c.695C>T (p.Ala232Val) c.812C>T (p.Ala271Val) c.1070C>T (p.Ala357Val) c.993+2917C>T (n.993+2917C>T) c.782+3563C>T (n.782+3563C>T) c.*198C>T (n.*198C>T) c.*110C>T (n.*110C>T) c.54-928C>T c.974C>T (p.Ala325Val) c.1058C>T (p.Ala353Val) c.614C>T (p.Ala205Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7670618G>C | CA397831811 | TP53 | c.1091C>G (p.Ala364Gly) c.695C>G (p.Ala232Gly) c.812C>G (p.Ala271Gly) c.1070C>G (p.Ala357Gly) c.993+2917C>G (n.993+2917C>G) c.782+3563C>G (n.782+3563C>G) c.*198C>G (n.*198C>G) c.*110C>G (n.*110C>G) c.54-928C>G c.974C>G (p.Ala325Gly) c.1058C>G (p.Ala353Gly) c.614C>G (p.Ala205Gly) | dbSNP |
| 17 | g.7670618G= | CA2245942304 | TP53 | c.1091C= (p.Ala364=) c.695C= (p.Ala232=) c.812C= (p.Ala271=) c.1070C= (p.Ala357=) c.993+2917C= (n.993+2917C=) c.782+3563C= (n.782+3563C=) c.*198C= (n.*198C=) c.*110C= (n.*110C=) c.54-928C= c.974C= (p.Ala325=) c.1058C= (p.Ala353=) c.614C= (p.Ala205=) | |
| 17 | g.7670618G>T | CA397831807 | TP53 | c.1091C>A (p.Ala364Asp) c.695C>A (p.Ala232Asp) c.812C>A (p.Ala271Asp) c.1070C>A (p.Ala357Asp) c.993+2917C>A (n.993+2917C>A) c.782+3563C>A (n.782+3563C>A) c.*198C>A (n.*198C>A) c.*110C>A (n.*110C>A) c.54-928C>A c.974C>A (p.Ala325Asp) c.1058C>A (p.Ala353Asp) c.614C>A (p.Ala205Asp) | |
| 17 | g.7670619C>A | CA397831837 | TP53 | c.1090G>T (p.Ala364Ser) c.694G>T (p.Ala232Ser) c.811G>T (p.Ala271Ser) c.1069G>T (p.Ala357Ser) c.993+2916G>T (n.993+2916G>T) c.782+3562G>T (n.782+3562G>T) c.*197G>T (n.*197G>T) c.*109G>T (n.*109G>T) c.54-929G>T c.973G>T (p.Ala325Ser) c.1057G>T (p.Ala353Ser) c.613G>T (p.Ala205Ser) | ClinVar dbSNP |
| 17 | g.7670619C= | CA2245942313 | TP53 | c.1090G= (p.Ala364=) c.694G= (p.Ala232=) c.811G= (p.Ala271=) c.1069G= (p.Ala357=) c.993+2916G= (n.993+2916G=) c.782+3562G= (n.782+3562G=) c.*197G= (n.*197G=) c.*109G= (n.*109G=) c.54-929G= c.973G= (p.Ala325=) c.1057G= (p.Ala353=) c.613G= (p.Ala205=) | |
| 17 | g.7670619C>G | CA397831838 | TP53 | c.1090G>C (p.Ala364Pro) c.694G>C (p.Ala232Pro) c.811G>C (p.Ala271Pro) c.1069G>C (p.Ala357Pro) c.993+2916G>C (n.993+2916G>C) c.782+3562G>C (n.782+3562G>C) c.*197G>C (n.*197G>C) c.*109G>C (n.*109G>C) c.54-929G>C c.973G>C (p.Ala325Pro) c.1057G>C (p.Ala353Pro) c.613G>C (p.Ala205Pro) | dbSNP |
| 17 | g.7670619C>T | CA397831839 | TP53 | c.1090G>A (p.Ala364Thr) c.694G>A (p.Ala232Thr) c.811G>A (p.Ala271Thr) c.1069G>A (p.Ala357Thr) c.993+2916G>A (n.993+2916G>A) c.782+3562G>A (n.782+3562G>A) c.*197G>A (n.*197G>A) c.*109G>A (n.*109G>A) c.54-929G>A c.973G>A (p.Ala325Thr) c.1057G>A (p.Ala353Thr) c.613G>A (p.Ala205Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7670620C>A | CA397831840 | TP53 | c.1089G>T (p.Arg363Ser) c.693G>T (p.Arg231Ser) c.810G>T (p.Arg270Ser) c.1068G>T (p.Arg356Ser) c.993+2915G>T (n.993+2915G>T) c.782+3561G>T (n.782+3561G>T) c.*196G>T (n.*196G>T) c.*108G>T (n.*108G>T) c.54-930G>T c.972G>T (p.Arg324Ser) c.1056G>T (p.Arg352Ser) c.612G>T (p.Arg204Ser) | ClinVar dbSNP |
| 17 | g.7670620C= | CA2245942321 | TP53 | c.1089G= (p.Arg363=) c.693G= (p.Arg231=) c.810G= (p.Arg270=) c.1068G= (p.Arg356=) c.993+2915G= (n.993+2915G=) c.782+3561G= (n.782+3561G=) c.*196G= (n.*196G=) c.*108G= (n.*108G=) c.54-930G= c.972G= (p.Arg324=) c.1056G= (p.Arg352=) c.612G= (p.Arg204=) | |
| 17 | g.7670620C>G | CA397831841 | TP53 | c.1089G>C (p.Arg363Ser) c.693G>C (p.Arg231Ser) c.810G>C (p.Arg270Ser) c.1068G>C (p.Arg356Ser) c.993+2915G>C (n.993+2915G>C) c.782+3561G>C (n.782+3561G>C) c.*196G>C (n.*196G>C) c.*108G>C (n.*108G>C) c.54-930G>C c.972G>C (p.Arg324Ser) c.1056G>C (p.Arg352Ser) c.612G>C (p.Arg204Ser) | dbSNP |
| 17 | g.7670620C>T | CA497712468 | TP53 | c.1089G>A (p.Arg363=) c.693G>A (p.Arg231=) c.810G>A (p.Arg270=) c.1068G>A (p.Arg356=) c.993+2915G>A (n.993+2915G>A) c.782+3561G>A (n.782+3561G>A) c.*196G>A (n.*196G>A) c.*108G>A (n.*108G>A) c.54-930G>A c.972G>A (p.Arg324=) c.1056G>A (p.Arg352=) c.612G>A (p.Arg204=) | ClinVar dbSNP |
| 17 | g.7670621C>A | CA397831842 | TP53 | c.1088G>T (p.Arg363Met) c.692G>T (p.Arg231Met) c.809G>T (p.Arg270Met) c.1067G>T (p.Arg356Met) c.993+2914G>T (n.993+2914G>T) c.782+3560G>T (n.782+3560G>T) c.*195G>T (n.*195G>T) c.*107G>T (n.*107G>T) c.54-931G>T c.971G>T (p.Arg324Met) c.1055G>T (p.Arg352Met) c.611G>T (p.Arg204Met) | |
| 17 | g.7670621C= | CA2245942327 | TP53 | c.1088G= (p.Arg363=) c.692G= (p.Arg231=) c.809G= (p.Arg270=) c.1067G= (p.Arg356=) c.993+2914G= (n.993+2914G=) c.782+3560G= (n.782+3560G=) c.*195G= (n.*195G=) c.*107G= (n.*107G=) c.54-931G= c.971G= (p.Arg324=) c.1055G= (p.Arg352=) c.611G= (p.Arg204=) | |
| 17 | g.7670621C>G | CA397831843 | TP53 | c.1088G>C (p.Arg363Thr) c.692G>C (p.Arg231Thr) c.809G>C (p.Arg270Thr) c.1067G>C (p.Arg356Thr) c.993+2914G>C (n.993+2914G>C) c.782+3560G>C (n.782+3560G>C) c.*195G>C (n.*195G>C) c.*107G>C (n.*107G>C) c.54-931G>C c.971G>C (p.Arg324Thr) c.1055G>C (p.Arg352Thr) c.611G>C (p.Arg204Thr) | |
| 17 | g.7670621C>T | CA10580904 | TP53 | c.1088G>A (p.Arg363Lys) c.692G>A (p.Arg231Lys) c.809G>A (p.Arg270Lys) c.1067G>A (p.Arg356Lys) c.993+2914G>A (n.993+2914G>A) c.782+3560G>A (n.782+3560G>A) c.*195G>A (n.*195G>A) c.*107G>A (n.*107G>A) c.54-931G>A c.971G>A (p.Arg324Lys) c.1055G>A (p.Arg352Lys) c.611G>A (p.Arg204Lys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7670622T>A | CA397831848 | TP53 | c.1087A>T (p.Arg363Trp) c.691A>T (p.Arg231Trp) c.808A>T (p.Arg270Trp) c.1066A>T (p.Arg356Trp) c.993+2913A>T (n.993+2913A>T) c.782+3559A>T (n.782+3559A>T) c.*194A>T (n.*194A>T) c.*106A>T (n.*106A>T) c.54-932A>T c.970A>T (p.Arg324Trp) c.1054A>T (p.Arg352Trp) c.610A>T (p.Arg204Trp) | |
| 17 | g.7670622T>C | CA000033 | TP53 | c.1087A>G (p.Arg363Gly) c.691A>G (p.Arg231Gly) c.808A>G (p.Arg270Gly) c.1066A>G (p.Arg356Gly) c.993+2913A>G (n.993+2913A>G) c.782+3559A>G (n.782+3559A>G) c.*194A>G (n.*194A>G) c.*106A>G (n.*106A>G) c.54-932A>G c.970A>G (p.Arg324Gly) c.1054A>G (p.Arg352Gly) c.610A>G (p.Arg204Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7670622T>G | CA497712474 | TP53 | c.1087A>C (p.Arg363=) c.691A>C (p.Arg231=) c.808A>C (p.Arg270=) c.1066A>C (p.Arg356=) c.993+2913A>C (n.993+2913A>C) c.782+3559A>C (n.782+3559A>C) c.*194A>C (n.*194A>C) c.*106A>C (n.*106A>C) c.54-932A>C c.970A>C (p.Arg324=) c.1054A>C (p.Arg352=) c.610A>C (p.Arg204=) | |
| 17 | g.7670622T= | CA2245942349 | TP53 | c.1087A= (p.Arg363=) c.691A= (p.Arg231=) c.808A= (p.Arg270=) c.1066A= (p.Arg356=) c.993+2913A= (n.993+2913A=) c.782+3559A= (n.782+3559A=) c.*194A= (n.*194A=) c.*106A= (n.*106A=) c.54-932A= c.970A= (p.Arg324=) c.1054A= (p.Arg352=) c.610A= (p.Arg204=) | |
| 17 | g.7670623G>A | CA497712479 | TP53 | c.1086C>T (p.Ser362=) c.690C>T (p.Ser230=) c.807C>T (p.Ser269=) c.1065C>T (p.Ser355=) c.993+2912C>T (n.993+2912C>T) c.782+3558C>T (n.782+3558C>T) c.*193C>T (n.*193C>T) c.*105C>T (n.*105C>T) c.54-933C>T c.969C>T (p.Ser323=) c.1053C>T (p.Ser351=) c.609C>T (p.Ser203=) | dbSNP |
| 17 | g.7670623G>C | CA397831854 | TP53 | c.1086C>G (p.Ser362Arg) c.690C>G (p.Ser230Arg) c.807C>G (p.Ser269Arg) c.1065C>G (p.Ser355Arg) c.993+2912C>G (n.993+2912C>G) c.782+3558C>G (n.782+3558C>G) c.*193C>G (n.*193C>G) c.*105C>G (n.*105C>G) c.54-933C>G c.969C>G (p.Ser323Arg) c.1053C>G (p.Ser351Arg) c.609C>G (p.Ser203Arg) | dbSNP |
| 17 | g.7670623G>T | CA397831855 | TP53 | c.1086C>A (p.Ser362Arg) c.690C>A (p.Ser230Arg) c.807C>A (p.Ser269Arg) c.1065C>A (p.Ser355Arg) c.993+2912C>A (n.993+2912C>A) c.782+3558C>A (n.782+3558C>A) c.*193C>A (n.*193C>A) c.*105C>A (n.*105C>A) c.54-933C>A c.969C>A (p.Ser323Arg) c.1053C>A (p.Ser351Arg) c.609C>A (p.Ser203Arg) | ClinVar |
| 17 | g.7670624C>A | CA000768 | TP53 | c.1085G>T (p.Ser362Ile) c.689G>T (p.Ser230Ile) c.806G>T (p.Ser269Ile) c.1064G>T (p.Ser355Ile) c.993+2911G>T (n.993+2911G>T) c.782+3557G>T (n.782+3557G>T) c.*192G>T (n.*192G>T) c.*104G>T (n.*104G>T) c.54-934G>T c.968G>T (p.Ser323Ile) c.1052G>T (p.Ser351Ile) c.608G>T (p.Ser203Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7670624C= | CA2245942361 | TP53 | c.1085G= (p.Ser362=) c.689G= (p.Ser230=) c.806G= (p.Ser269=) c.1064G= (p.Ser355=) c.993+2911G= (n.993+2911G=) c.782+3557G= (n.782+3557G=) c.*192G= (n.*192G=) c.*104G= (n.*104G=) c.54-934G= c.968G= (p.Ser323=) c.1052G= (p.Ser351=) c.608G= (p.Ser203=) | |
| 17 | g.7670624C>G | CA397831859 | TP53 | c.1085G>C (p.Ser362Thr) c.689G>C (p.Ser230Thr) c.806G>C (p.Ser269Thr) c.1064G>C (p.Ser355Thr) c.993+2911G>C (n.993+2911G>C) c.782+3557G>C (n.782+3557G>C) c.*192G>C (n.*192G>C) c.*104G>C (n.*104G>C) c.54-934G>C c.968G>C (p.Ser323Thr) c.1052G>C (p.Ser351Thr) c.608G>C (p.Ser203Thr) | |
| 17 | g.7670624C>T | CA397831856 | TP53 | c.1085G>A (p.Ser362Asn) c.689G>A (p.Ser230Asn) c.806G>A (p.Ser269Asn) c.1064G>A (p.Ser355Asn) c.993+2911G>A (n.993+2911G>A) c.782+3557G>A (n.782+3557G>A) c.*192G>A (n.*192G>A) c.*104G>A (n.*104G>A) c.54-934G>A c.968G>A (p.Ser323Asn) c.1052G>A (p.Ser351Asn) c.608G>A (p.Ser203Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7670625del | CA497712491 | TP53 | c.1084del (p.Ser362AlafsTer8) c.688del (p.Ser230AlafsTer8) c.805del (p.Ser269AlafsTer8) c.1063del (p.Ser355AlafsTer8) c.993+2910del (n.993+2910del) c.782+3556del (n.782+3556del) c.*191del (n.*191del) c.*103del (n.*103del) c.54-935del c.967del (p.Ser323AlafsTer8) c.1051del (p.Ser351AlafsTer8) c.607del (p.Ser203AlafsTer8) c.967del (p.Ser323AlafsTer26) | COSMIC |
| 17 | g.7670625T>A | CA397831862 | TP53 | c.1084A>T (p.Ser362Cys) c.688A>T (p.Ser230Cys) c.805A>T (p.Ser269Cys) c.1063A>T (p.Ser355Cys) c.993+2910A>T (n.993+2910A>T) c.782+3556A>T (n.782+3556A>T) c.*191A>T (n.*191A>T) c.*103A>T (n.*103A>T) c.54-935A>T c.967A>T (p.Ser323Cys) c.1051A>T (p.Ser351Cys) c.607A>T (p.Ser203Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7670625T>C | CA397831868 | TP53 | c.1084A>G (p.Ser362Gly) c.688A>G (p.Ser230Gly) c.805A>G (p.Ser269Gly) c.1063A>G (p.Ser355Gly) c.993+2910A>G (n.993+2910A>G) c.782+3556A>G (n.782+3556A>G) c.*191A>G (n.*191A>G) c.*103A>G (n.*103A>G) c.54-935A>G c.967A>G (p.Ser323Gly) c.1051A>G (p.Ser351Gly) c.607A>G (p.Ser203Gly) | ClinVar dbSNP |
| 17 | g.7670625T>G | CA397831873 | TP53 | c.1084A>C (p.Ser362Arg) c.688A>C (p.Ser230Arg) c.805A>C (p.Ser269Arg) c.1063A>C (p.Ser355Arg) c.993+2910A>C (n.993+2910A>C) c.782+3556A>C (n.782+3556A>C) c.*191A>C (n.*191A>C) c.*103A>C (n.*103A>C) c.54-935A>C c.967A>C (p.Ser323Arg) c.1051A>C (p.Ser351Arg) c.607A>C (p.Ser203Arg) | |
| 17 | g.7670625T= | CA2245942387 | TP53 | c.1084A= (p.Ser362=) c.688A= (p.Ser230=) c.805A= (p.Ser269=) c.1063A= (p.Ser355=) c.993+2910A= (n.993+2910A=) c.782+3556A= (n.782+3556A=) c.*191A= (n.*191A=) c.*103A= (n.*103A=) c.54-935A= c.967A= (p.Ser323=) c.1051A= (p.Ser351=) c.607A= (p.Ser203=) | |
| 17 | g.7670625_7670626delinsTC | CA2245942392 | TP53 | c.1083_1084delinsGA (p.Gly361=) c.687_688delinsGA (p.Gly229=) c.804_805delinsGA (p.Gly268=) c.1062_1063delinsGA (p.Gly354=) c.993+2909_993+2910delinsGA (n.993+2909_993+2910delinsGA) c.782+3555_782+3556delinsGA (n.782+3555_782+3556delinsGA) c.*190_*191delinsGA (n.*190_*191delinsGA) c.*102_*103delinsGA (n.*102_*103delinsGA) c.54-936_54-935delinsGA c.966_967delinsGA (p.Gly322=) c.1050_1051delinsGA (p.Gly350=) c.606_607delinsGA (p.Gly202=) | |
| 17 | g.7670626C>A | CA497712494 | TP53 | c.1083G>T (p.Gly361=) c.687G>T (p.Gly229=) c.804G>T (p.Gly268=) c.1062G>T (p.Gly354=) c.993+2909G>T (n.993+2909G>T) c.782+3555G>T (n.782+3555G>T) c.*190G>T (n.*190G>T) c.*102G>T (n.*102G>T) c.54-936G>T c.966G>T (p.Gly322=) c.1050G>T (p.Gly350=) c.606G>T (p.Gly202=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 17 | g.7670626C= | CA2245942407 | TP53 | c.1083G= (p.Gly361=) c.687G= (p.Gly229=) c.804G= (p.Gly268=) c.1062G= (p.Gly354=) c.993+2909G= (n.993+2909G=) c.782+3555G= (n.782+3555G=) c.*190G= (n.*190G=) c.*102G= (n.*102G=) c.54-936G= c.966G= (p.Gly322=) c.1050G= (p.Gly350=) c.606G= (p.Gly202=) | |
| 17 | g.7670626C>G | CA497712496 | TP53 | c.1083G>C (p.Gly361=) c.687G>C (p.Gly229=) c.804G>C (p.Gly268=) c.1062G>C (p.Gly354=) c.993+2909G>C (n.993+2909G>C) c.782+3555G>C (n.782+3555G>C) c.*190G>C (n.*190G>C) c.*102G>C (n.*102G>C) c.54-936G>C c.966G>C (p.Gly322=) c.1050G>C (p.Gly350=) c.606G>C (p.Gly202=) | dbSNP gnomAD v4 |
| 17 | g.7670626C>T | CA10587282 | TP53 | c.1083G>A (p.Gly361=) c.687G>A (p.Gly229=) c.804G>A (p.Gly268=) c.1062G>A (p.Gly354=) c.993+2909G>A (n.993+2909G>A) c.782+3555G>A (n.782+3555G>A) c.*190G>A (n.*190G>A) c.*102G>A (n.*102G>A) c.54-936G>A c.966G>A (p.Gly322=) c.1050G>A (p.Gly350=) c.606G>A (p.Gly202=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7670631dup | CA2695224214 | TP53 | c.1083dup (p.Ser362GlufsTer20) c.687dup (p.Ser230GlufsTer20) c.804dup (p.Ser269GlufsTer20) c.1062dup (p.Ser355GlufsTer20) c.993+2909dup (n.993+2909dup) c.782+3555dup (n.782+3555dup) c.*190dup (n.*190dup) c.*102dup (n.*102dup) c.54-936dup c.966dup (p.Ser323GlufsTer20) c.1050dup (p.Ser351GlufsTer20) c.606dup (p.Ser203GlufsTer20) c.966dup (p.Ser323GlufsTer25) | |
| 17 | g.7670631del | CA645587291 | TP53 | c.1083del (p.Ser362AlafsTer8) c.687del (p.Ser230AlafsTer8) c.804del (p.Ser269AlafsTer8) c.1062del (p.Ser355AlafsTer8) c.993+2909del (n.993+2909del) c.782+3555del (n.782+3555del) c.*190del (n.*190del) c.*102del (n.*102del) c.54-936del c.966del (p.Ser323AlafsTer8) c.1050del (p.Ser351AlafsTer8) c.606del (p.Ser203AlafsTer8) c.966del (p.Ser323AlafsTer26) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.7670627C>A | CA397831885 | TP53 | c.1082G>T (p.Gly361Val) c.686G>T (p.Gly229Val) c.803G>T (p.Gly268Val) c.1061G>T (p.Gly354Val) c.993+2908G>T (n.993+2908G>T) c.782+3554G>T (n.782+3554G>T) c.*189G>T (n.*189G>T) c.*101G>T (n.*101G>T) c.54-937G>T c.965G>T (p.Gly322Val) c.1049G>T (p.Gly350Val) c.605G>T (p.Gly202Val) | |
| 17 | g.7670627C= | CA2245942419 | TP53 | c.1082G= (p.Gly361=) c.686G= (p.Gly229=) c.803G= (p.Gly268=) c.1061G= (p.Gly354=) c.993+2908G= (n.993+2908G=) c.782+3554G= (n.782+3554G=) c.*189G= (n.*189G=) c.*101G= (n.*101G=) c.54-937G= c.965G= (p.Gly322=) c.1049G= (p.Gly350=) c.605G= (p.Gly202=) | |
| 17 | g.7670627C>G | CA397831882 | TP53 | c.1082G>C (p.Gly361Ala) c.686G>C (p.Gly229Ala) c.803G>C (p.Gly268Ala) c.1061G>C (p.Gly354Ala) c.993+2908G>C (n.993+2908G>C) c.782+3554G>C (n.782+3554G>C) c.*189G>C (n.*189G>C) c.*101G>C (n.*101G>C) c.54-937G>C c.965G>C (p.Gly322Ala) c.1049G>C (p.Gly350Ala) c.605G>C (p.Gly202Ala) | |
| 17 | g.7670627C>T | CA000032 | TP53 | c.1082G>A (p.Gly361Glu) c.686G>A (p.Gly229Glu) c.803G>A (p.Gly268Glu) c.1061G>A (p.Gly354Glu) c.993+2908G>A (n.993+2908G>A) c.782+3554G>A (n.782+3554G>A) c.*189G>A (n.*189G>A) c.*101G>A (n.*101G>A) c.54-937G>A c.965G>A (p.Gly322Glu) c.1049G>A (p.Gly350Glu) c.605G>A (p.Gly202Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.7670628C>A | CA397831891 | TP53 | c.1081G>T (p.Gly361Trp) c.685G>T (p.Gly229Trp) c.802G>T (p.Gly268Trp) c.1060G>T (p.Gly354Trp) c.993+2907G>T (n.993+2907G>T) c.782+3553G>T (n.782+3553G>T) c.*188G>T (n.*188G>T) c.*100G>T (n.*100G>T) c.54-938G>T c.964G>T (p.Gly322Trp) c.1048G>T (p.Gly350Trp) c.604G>T (p.Gly202Trp) |