General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
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---|---|
Gene ID | 838 |
Name | CASP5 |
Synonymous | caspase 5, apoptosis-related cysteine peptidase;CASP5;caspase 5, apoptosis-related cysteine peptidase |
Definition | CASP-5|ICE(rel)-III|TY protease|caspase 5, apoptosis-related cysteine protease|caspase-5|protease ICH-3|protease TY |
Position | 11q22.2-q22.3 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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The ratio of the loss-of-function mutations over missense mutations is 0.32. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.460G>T; p.E154*; 11:105003309-105003309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.195T>A; p.H65Q; 11:105007273-105007273 |
kidney | other; neoplasm | Substitution - Missense |
c.518A>G; p.E173G; 11:105002179-105002179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.518A>G; p.E173G; 11:105002179-105002179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.518A>G; p.E173G; 11:105002179-105002179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.195T>A; p.H65Q; 11:105007273-105007273 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.518A>G; p.E173G; 11:105002179-105002179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.845G>A; p.R282H; 11:105000320-105000320 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.809T>G; p.L270R; 11:105000356-105000356 |
skin | malignant_melanoma | Substitution - Missense |
c.1065A>T; p.R355S; 11:104997476-104997476 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.10G>A; p.G4S; 11:105008930-105008930 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.305C>T; p.S102F; 11:105007163-105007163 |
NS | NS | Substitution - Missense |
c.95T>C; p.L32P; 11:105008845-105008845 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.85A>G; p.I29V; 11:105008855-105008855 |
skin | malignant_melanoma | Substitution - Missense |
c.315G>T; p.K105N; 11:105007153-105007153 |
breast | carcinoma | Substitution - Missense |
c.1043C>A; p.T348K; 11:104998890-104998890 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1043C>A; p.T348K; 11:104998890-104998890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1043C>A; p.T348K; 11:104998890-104998890 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.474G>T; p.L158L; 11:105003295-105003295 |
liver | carcinoma | Substitution - coding silent |
c.474G>T; p.L158L; 11:105003295-105003295 |
liver | carcinoma | Substitution - coding silent |
c.404C>T; p.A135V; 11:105003365-105003365 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.875A>T; p.K292M; 11:105000290-105000290 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.783G>A; p.A261A; 11:105000382-105000382 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.63C>A; p.N21K; 11:105008877-105008877 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.403G>C; p.A135P; 11:105003366-105003366 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.402G>T; p.E134D; 11:105003367-105003367 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.39C>T; p.F13F; 11:105008901-105008901 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.133A>C; p.K45Q; 11:105008807-105008807 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.461A>T; p.E154V; 11:105003308-105003308 |
skin | malignant_melanoma | Substitution - Missense |
c.498C>A; p.I166I; 11:105002199-105002199 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.805G>A; p.V269M; 11:105000360-105000360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.512delA; p.K171fs*33; 11:105002185-105002185 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.917A>T; p.E306V; 11:104999016-104999016 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.67G>T; p.V23L; 11:105008873-105008873 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.386C>T; p.P129L; 11:105003383-105003383 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.386C>T; p.P129L; 11:105003383-105003383 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.869A>T; p.K290I; 11:105000296-105000296 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.607A>G; p.M203V; 11:105002090-105002090 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1028C>A; p.A343D; 11:104998905-104998905 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1180C>T; p.P394S; 11:104995821-104995821 |
skin | malignant_melanoma | Substitution - Missense |
c.1087T>G; p.F363V; 11:104997454-104997454 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.119C>T; p.S40L; 11:105008821-105008821 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.134-7C>T; p.?; 11:105007341-105007341 |
urinary_tract; bladder | carcinoma | Unknown |
c.341C>T; p.T114I; 11:105007127-105007127 |
skin | malignant_melanoma | Substitution - Missense |
c.352C>T; p.L118F; 11:105007116-105007116 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1250G>A; p.G417D; 11:104995751-104995751 |
skin | malignant_melanoma | Substitution - Missense |
c.117G>T; p.K39N; 11:105008823-105008823 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.154_155insT; p.T52fs*3; 11:105007313-105007314 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.731C>T; p.T244M; 11:105000434-105000434 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1256G>C; p.*419S; 11:104995745-104995745 |
lung | carcinoma; adenocarcinoma | Nonstop extension |
c.743T>C; p.L248P; 11:105000422-105000422 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.878T>C; p.V293A; 11:105000287-105000287 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.600C>T; p.I200I; 11:105002097-105002097 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.261T>G; p.Y87*; 11:105007207-105007207 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1208T>C; p.I403T; 11:104995793-104995793 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.493G>A; p.E165K; 11:105003276-105003276 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.19C>T; p.Q7*; 11:105008921-105008921 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.975G>T; p.E325D; 11:104998958-104998958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1245T>C; p.F415F; 11:104995756-104995756 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.388C>G; p.L130V; 11:105003381-105003381 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.872C>T; p.P291L; 11:105000293-105000293 |
skin | malignant_melanoma | Substitution - Missense |
c.221A>T; p.H74L; 11:105007247-105007247 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.221A>T; p.H74L; 11:105007247-105007247 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.600C>A; p.I200I; 11:105002097-105002097 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.251delA; p.K84fs*14; 11:105007217-105007217 |
pleura | pulmonary_blastoma | Deletion - Frameshift |
c.648C>T; p.D216D; 11:105002049-105002049 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.451C>A; p.P151T; 11:105003318-105003318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.108G>A; p.T36T; 11:105008832-105008832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.975G>A; p.E325E; 11:104998958-104998958 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.805G>T; p.V269L; 11:105000360-105000360 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.293T>C; p.I98T; 11:105007175-105007175 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.31G>A; p.D11N; 11:105008909-105008909 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.649G>A; p.E217K; 11:105002048-105002048 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153C>T; p.R385W; 11:104997388-104997388 |
skin | malignant_melanoma | Substitution - Missense |
c.1153C>T; p.R385W; 11:104997388-104997388 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153C>T; p.R385W; 11:104997388-104997388 |
skin | malignant_melanoma | Substitution - Missense |
c.1153C>T; p.R385W; 11:104997388-104997388 |
skin | malignant_melanoma | Substitution - Missense |
c.252G>T; p.K84N; 11:105007216-105007216 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.775G>A; p.G259R; 11:105000390-105000390 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.495G>T; p.E165D; 11:105003274-105003274 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.477_478insA; p.N162fs*3; 11:105003291-105003292 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.684G>A; p.V228V; 11:105000481-105000481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.15C>A; p.I5I; 11:105008925-105008925 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.446T>A; p.L149H; 11:105003323-105003323 |
liver | carcinoma | Substitution - Missense |
c.519G>C; p.E173D; 11:105002178-105002178 |
liver | carcinoma | Substitution - Missense |
c.1251C>A; p.G417G; 11:104995750-104995750 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.519G>C; p.E173D; 11:105002178-105002178 |
liver | carcinoma | Substitution - Missense |
c.519G>C; p.E173D; 11:105002178-105002178 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.311G>A; p.R104Q; 11:105007157-105007157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.291G>A; p.L97L; 11:105007177-105007177 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.635_636AC>TT; p.Y212F; 11:105002061-105002062 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.543C>T; p.I181I; 11:105002154-105002154 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1089C>T; p.F363F; 11:104997452-104997452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1048C>T; p.H350Y; 11:104998885-104998885 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.522C>G; p.D174E; 11:105002175-105002175 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.153_154delAA; p.K51fs*3; 11:105007314-105007315 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.153_154delAA; p.K51fs*3; 11:105007314-105007315 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.40G>A; p.V14M; 11:105008900-105008900 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.286G>C; p.A96P; 11:105007182-105007182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.223G>A; p.D75N; 11:105007245-105007245 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.223G>A; p.D75N; 11:105007245-105007245 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.812T>G; p.L271R; 11:105000353-105000353 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.135A>C; p.K45N; 11:105007333-105007333 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.822C>A; p.T274T; 11:105000343-105000343 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.452C>A; p.P151H; 11:105003317-105003317 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1158G>T; p.K386N; 11:104997383-104997383 |
pancreas | carcinoma | Substitution - Missense |
c.399C>T; p.I133I; 11:105003370-105003370 |
skin | malignant_melanoma | Substitution - coding silent |
c.364C>T; p.Q122*; 11:105007104-105007104 |
skin | malignant_melanoma | Substitution - Nonsense |
c.481A>C; p.K161Q; 11:105003288-105003288 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.485_486insA; p.N162fs*3; 11:105003283-105003284 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.562G>C; p.D188H; 11:105002135-105002135 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169C>A; p.S390*; 11:104995832-104995832 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1169C>A; p.S390*; 11:104995832-104995832 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.892G>A; p.A298T; 11:105000273-105000273 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.909A>C; p.K303N; 11:104999024-104999024 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.385+7T>C; p.?; 11:105007076-105007076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.385+7T>C; p.?; 11:105007076-105007076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.385+7T>C; p.?; 11:105007076-105007076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.346A>G; p.T116A; 11:105007122-105007122 |
skin | malignant_melanoma | Substitution - Missense |
c.485delA; p.N162fs*8; 11:105003284-105003284 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.485delA; p.N162fs*8; 11:105003284-105003284 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.485delA; p.N162fs*8; 11:105003284-105003284 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.485delA; p.N162fs*8; 11:105003284-105003284 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.485delA; p.N162fs*8; 11:105003284-105003284 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.534G>A; p.L178L; 11:105002163-105002163 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.305C>G; p.S102C; 11:105007163-105007163 |
breast | carcinoma | Substitution - Missense |
c.305C>G; p.S102C; 11:105007163-105007163 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.749C>T; p.S250F; 11:105000416-105000416 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1086C>T; p.I362I; 11:104997455-104997455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.959C>T; p.S320F; 11:104998974-104998974 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.385C>T; p.P129S; 11:105007083-105007083 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1159-8T>C; p.?; 11:104995850-104995850 |
liver | carcinoma | Unknown |
c.1159-8T>C; p.?; 11:104995850-104995850 |
liver | carcinoma | Unknown |
c.1159-8T>C; p.?; 11:104995850-104995850 |
liver | carcinoma | Unknown |
c.664G>A; p.A222T; 11:105002033-105002033 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.872C>G; p.P291R; 11:105000293-105000293 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.519G>T; p.E173D; 11:105002178-105002178 |
oesophagus | carcinoma | Substitution - Missense |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.468G>C; p.L156L; 11:105003301-105003301 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.137A>G; p.D46G; 11:105007331-105007331 |
liver | carcinoma | Substitution - Missense |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
liver | carcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.154delA; p.T52fs*26; 11:105007314-105007314 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.107C>T; p.T36M; 11:105008833-105008833 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.107C>T; p.T36M; 11:105008833-105008833 |
thyroid | carcinoma | Substitution - Missense |
c.176T>C; p.L59P; 11:105007292-105007292 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.325G>A; p.A109T; 11:105007143-105007143 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.581A>T; p.N194I; 11:105002116-105002116 |
breast | carcinoma | Substitution - Missense |
c.241G>A; p.E81K; 11:105007227-105007227 |
skin | malignant_melanoma | Substitution - Missense |
c.241G>A; p.E81K; 11:105007227-105007227 |
skin | malignant_melanoma | Substitution - Missense |