| Gene ID | 7222 |
| Symbol | TRPC3 |
| Synonymous | TRP3 |
| Full name | transient receptor potential cation channel, subfamily C, member 3 |
| Gene description | hTrp-3|short transient receptor potential channel 3|transient receptor potential cation channel subfamily C member 3 variant c|transient receptor protein 3 |
| Cytoband | 4q27 |
| Gene type | protein-coding |
| Synonymous | MIM:602345; HGNC:HGNC:12335; Ensembl:ENSG00000138741; HPRD:15999; Vega:OTTHUMG00000133069 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1754T>C; p.I585T; 4:121907387-121907387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2478T>C; p.T826T; 4:121879805-121879805 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.435C>T; p.D145D; 4:121932604-121932604 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.639G>A; p.S213S; 4:121932400-121932400 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2130T>A; p.V710V; 4:121902966-121902966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.681C>T; p.L227L; 4:121932358-121932358 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1590C>T; p.L530L; 4:121907551-121907551 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.571G>A; p.D191N; 4:121932468-121932468 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.395G>A; p.R132H; 4:121932644-121932644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.395G>A; p.R132H; 4:121932644-121932644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1385G>T; p.R462M; 4:121910342-121910342 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.142G>A; p.E48K; 4:121932897-121932897 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.166C>A; p.R56S; 4:121932873-121932873 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.713C>T; p.A238V; 4:121932326-121932326 |
skin | malignant_melanoma | Substitution - Missense |
c.367A>T; p.N123Y; 4:121932672-121932672 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2085C>A; p.S695S; 4:121903011-121903011 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1369T>C; p.W457R; 4:121910358-121910358 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.179A>C; p.E60A; 4:121932860-121932860 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.847G>A; p.V283I; 4:121925128-121925128 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.479A>T; p.D160V; 4:121932560-121932560 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.996G>A; p.T332T; 4:121914906-121914906 |
skin | malignant_melanoma | Substitution - coding silent |
c.519C>T; p.Y173Y; 4:121932520-121932520 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.502G>A; p.A168T; 4:121932537-121932537 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.100A>C; p.T34P; 4:121932939-121932939 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.132C>T; p.L44L; 4:121932907-121932907 |
skin | malignant_melanoma | Substitution - coding silent |
c.1933A>T; p.N645Y; 4:121904423-121904423 |
skin | malignant_melanoma | Substitution - Missense |
c.399C>T; p.L133L; 4:121932640-121932640 |
liver | carcinoma | Substitution - coding silent |
c.2276T>C; p.V759A; 4:121899664-121899664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>T; p.L133L; 4:121932640-121932640 |
liver | carcinoma | Substitution - coding silent |
c.1920C>A; p.H640Q; 4:121904436-121904436 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1164A>T; p.A388A; 4:121912052-121912052 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1027G>A; p.E343K; 4:121914875-121914875 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.2482G>T; p.E828*; 4:121879801-121879801 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2180C>T; p.P727L; 4:121902916-121902916 |
skin | malignant_melanoma | Substitution - Missense |
c.2147T>G; p.F716C; 4:121902949-121902949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2128G>T; p.V710F; 4:121902968-121902968 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.701C>T; p.P234L; 4:121932338-121932338 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1660G>A; p.A554T; 4:121907481-121907481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1935T>G; p.N645K; 4:121904421-121904421 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.351C>T; p.I117I; 4:121932688-121932688 |
skin | malignant_melanoma | Substitution - coding silent |
c.513G>A; p.Q171Q; 4:121932526-121932526 |
skin | malignant_melanoma | Substitution - coding silent |
c.1955G>A; p.G652E; 4:121904401-121904401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.289G>A; p.E97K; 4:121932750-121932750 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.289G>A; p.E97K; 4:121932750-121932750 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1900G>A; p.V634I; 4:121904456-121904456 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.41G>A; p.R14Q; 4:121932998-121932998 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.859C>T; p.L287L; 4:121925116-121925116 |
skin | malignant_melanoma | Substitution - coding silent |
c.2443C>T; p.R815C; 4:121879840-121879840 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1195C>G; p.L399V; 4:121912021-121912021 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2199G>A; p.R733R; 4:121902897-121902897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1118G>T; p.S373I; 4:121914784-121914784 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2199G>A; p.R733R; 4:121902897-121902897 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2443C>T; p.R815C; 4:121879840-121879840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.568C>T; p.H190Y; 4:121932471-121932471 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1411G>A; p.V471M; 4:121910316-121910316 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.466C>T; p.R156C; 4:121932573-121932573 |
breast | carcinoma | Substitution - Missense |
c.466C>T; p.R156C; 4:121932573-121932573 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.466C>T; p.R156C; 4:121932573-121932573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.341A>G; p.Y114C; 4:121932698-121932698 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.441C>T; p.F147F; 4:121932598-121932598 |
skin | malignant_melanoma | Substitution - coding silent |
c.1676C>A; p.A559E; 4:121907465-121907465 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.923G>A; p.R308H; 4:121925052-121925052 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.611G>T; p.R204M; 4:121932428-121932428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1379G>A; p.G460E; 4:121910348-121910348 |
skin | malignant_melanoma | Substitution - Missense |
c.923G>A; p.R308H; 4:121925052-121925052 |
pancreas | carcinoma | Substitution - Missense |
c.1661C>T; p.A554V; 4:121907480-121907480 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2416G>T; p.E806*; 4:121879867-121879867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2129T>C; p.V710A; 4:121902967-121902967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.501G>A; p.A167A; 4:121932538-121932538 |
skin | malignant_melanoma | Substitution - coding silent |
c.2129T>C; p.V710A; 4:121902967-121902967 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2221G>A; p.G741R; 4:121902875-121902875 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1275G>C; p.Q425H; 4:121911941-121911941 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.444C>T; p.Y148Y; 4:121932595-121932595 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.911C>T; p.A304V; 4:121925064-121925064 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2100A>G; p.G700G; 4:121902996-121902996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.45G>A; p.E15E; 4:121932994-121932994 |
skin | malignant_melanoma | Substitution - coding silent |
c.2035G>A; p.D679N; 4:121903061-121903061 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.381C>A; p.F127L; 4:121932658-121932658 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.718G>A; p.E240K; 4:121932321-121932321 |
skin | malignant_melanoma | Substitution - Missense |
c.1225G>A; p.E409K; 4:121911991-121911991 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.871C>A; p.L291M; 4:121925104-121925104 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.381C>T; p.F127F; 4:121932658-121932658 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1225G>A; p.E409K; 4:121911991-121911991 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.203_204insA; p.N68fs*72; 4:121932835-121932836 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.572A>G; p.D191G; 4:121932467-121932467 |
oesophagus | carcinoma | Substitution - Missense |
c.419A>T; p.Q140L; 4:121932620-121932620 |
pancreas | carcinoma | Substitution - Missense |
c.754G>A; p.E252K; 4:121932285-121932285 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.419A>T; p.Q140L; 4:121932620-121932620 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1349G>T; p.W450L; 4:121910378-121910378 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.95G>A; p.R32H; 4:121932944-121932944 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.563G>A; p.R188Q; 4:121932476-121932476 |
breast | carcinoma | Substitution - Missense |
c.1059G>A; p.V353V; 4:121914843-121914843 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.563G>A; p.R188Q; 4:121932476-121932476 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.924T>C; p.R308R; 4:121925051-121925051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2195G>A; p.R732K; 4:121902901-121902901 |
skin | malignant_melanoma | Substitution - Missense |
c.1386G>A; p.R462R; 4:121910341-121910341 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1284G>T; p.R428S; 4:121911932-121911932 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1108G>A; p.A370T; 4:121914794-121914794 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.956delA; p.K319fs*13; 4:121925019-121925019 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.359C>T; p.A120V; 4:121932680-121932680 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1948C>A; p.L650I; 4:121904408-121904408 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.489C>A; p.P163P; 4:121932550-121932550 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1318C>A; p.L440I; 4:121911898-121911898 |
NS | NS | Substitution - Missense |
c.826C>A; p.L276I; 4:121925149-121925149 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2165G>A; p.R722Q; 4:121902931-121902931 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1485G>A; p.T495T; 4:121910242-121910242 |
skin | malignant_melanoma | Substitution - coding silent |
c.2440C>T; p.L814F; 4:121879843-121879843 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2306T>A; p.L769H; 4:121899634-121899634 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1025G>A; p.R342K; 4:121914877-121914877 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.715C>A; p.L239I; 4:121932324-121932324 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1139G>A; p.R380Q; 4:121912077-121912077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.324C>T; p.L108L; 4:121932715-121932715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2179C>T; p.P727S; 4:121902917-121902917 |
liver | carcinoma | Substitution - Missense |
c.2179C>T; p.P727S; 4:121902917-121902917 |
liver | carcinoma | Substitution - Missense |
c.614A>G; p.H205R; 4:121932425-121932425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.87C>T; p.F29F; 4:121932952-121932952 |
bone | chondrosarcoma | Substitution - coding silent |
c.1237A>C; p.T413P; 4:121911979-121911979 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1059G>T; p.V353V; 4:121914843-121914843 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2245-2A>T; p.?; 4:121899697-121899697 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.478G>A; p.D160N; 4:121932561-121932561 |
skin | malignant_melanoma | Substitution - Missense |
c.1945G>A; p.V649I; 4:121904411-121904411 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2352G>T; p.K784N; 4:121882406-121882406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.151A>G; p.N51D; 4:121932888-121932888 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1175C>T; p.S392F; 4:121912041-121912041 |
skin | malignant_melanoma | Substitution - Missense |
c.694G>A; p.E232K; 4:121932345-121932345 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7G>A; p.G3R; 4:121933032-121933032 |
skin | malignant_melanoma | Substitution - Missense |
c.500C>T; p.A167V; 4:121932539-121932539 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.384G>A; p.A128A; 4:121932655-121932655 |
skin | malignant_melanoma | Substitution - coding silent |
c.432C>T; p.D144D; 4:121932607-121932607 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2069C>G; p.S690*; 4:121903027-121903027 |
ovary | other; neoplasm | Substitution - Nonsense |
c.501G>T; p.A167A; 4:121932538-121932538 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.135C>T; p.D45D; 4:121932904-121932904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.135C>T; p.D45D; 4:121932904-121932904 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1317G>A; p.M439I; 4:121911899-121911899 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1888G>A; p.E630K; 4:121904468-121904468 |
breast | carcinoma | Substitution - Missense |
c.156C>T; p.I52I; 4:121932883-121932883 |
skin | malignant_melanoma | Substitution - coding silent |
c.567G>A; p.P189P; 4:121932472-121932472 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.567G>A; p.P189P; 4:121932472-121932472 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.588C>T; p.C196C; 4:121932451-121932451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.467G>A; p.R156H; 4:121932572-121932572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>A; p.R156H; 4:121932572-121932572 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.70G>A; p.G24S; 4:121932969-121932969 |
skin | malignant_melanoma | Substitution - Missense |
c.467G>A; p.R156H; 4:121932572-121932572 |
liver | carcinoma | Substitution - Missense |
c.467G>A; p.R156H; 4:121932572-121932572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.242C>T; p.A81V; 4:121932797-121932797 |
skin | malignant_melanoma | Substitution - Missense |
c.958T>A; p.F320I; 4:121914944-121914944 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.242C>T; p.A81V; 4:121932797-121932797 |
skin | malignant_melanoma | Substitution - Missense |
c.1394T>G; p.I465S; 4:121910333-121910333 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.906C>A; p.H302Q; 4:121925069-121925069 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.601G>T; p.E201*; 4:121932438-121932438 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2212A>G; p.I738V; 4:121902884-121902884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2408A>G; p.E803G; 4:121879875-121879875 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.645C>T; p.I215I; 4:121932394-121932394 |
breast | carcinoma | Substitution - coding silent |
c.300G>A; p.A100A; 4:121932739-121932739 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.730G>A; p.E244K; 4:121932309-121932309 |
skin | malignant_melanoma | Substitution - Missense |
c.459C>T; p.D153D; 4:121932580-121932580 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.302G>A; p.R101H; 4:121932737-121932737 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1767delT; p.F589fs*4; 4:121907374-121907374 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.459C>T; p.D153D; 4:121932580-121932580 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.459C>T; p.D153D; 4:121932580-121932580 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.302G>A; p.R101H; 4:121932737-121932737 |
kidney | other; neoplasm | Substitution - Missense |
c.141C>T; p.A47A; 4:121932898-121932898 |
skin | malignant_melanoma | Substitution - coding silent |
c.1275G>A; p.Q425Q; 4:121911941-121911941 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.386C>A; p.A129D; 4:121932653-121932653 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2130T>C; p.V710V; 4:121902966-121902966 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1484C>T; p.T495M; 4:121910243-121910243 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.351C>A; p.I117I; 4:121932688-121932688 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.780G>A; p.R260R; 4:121925195-121925195 |
skin | malignant_melanoma | Substitution - coding silent |
c.504G>A; p.A168A; 4:121932535-121932535 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.558C>T; p.I186I; 4:121932481-121932481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2255T>C; p.F752S; 4:121899685-121899685 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1573G>A; p.A525T; 4:121910154-121910154 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.158C>A; p.P53Q; 4:121932881-121932881 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.158C>A; p.P53Q; 4:121932881-121932881 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.158C>A; p.P53Q; 4:121932881-121932881 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.158C>A; p.P53Q; 4:121932881-121932881 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.440T>C; p.F147S; 4:121932599-121932599 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.V67I; 4:121932840-121932840 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2435C>A; p.S812Y; 4:121879848-121879848 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267C>G; p.P423A; 4:121911949-121911949 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.147C>T; p.Y49Y; 4:121932892-121932892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2181C>A; p.P727P; 4:121902915-121902915 |
breast | carcinoma | Substitution - coding silent |
c.880G>A; p.A294T; 4:121925095-121925095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267C>G; p.P423A; 4:121911949-121911949 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.778C>T; p.R260W; 4:121925197-121925197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.17C>T; p.S6F; 4:121933022-121933022 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.669C>T; p.S223S; 4:121932370-121932370 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1071C>T; p.A357A; 4:121914831-121914831 |
skin | malignant_melanoma | Substitution - coding silent |
c.56G>A; p.R19H; 4:121932983-121932983 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1506C>T; p.D502D; 4:121910221-121910221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.56G>A; p.R19H; 4:121932983-121932983 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.520G>A; p.E174K; 4:121932519-121932519 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.272A>T; p.E91V; 4:121932767-121932767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2164C>T; p.R722*; 4:121902932-121902932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2164C>T; p.R722*; 4:121902932-121902932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2164C>T; p.R722*; 4:121902932-121902932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1224C>T; p.F408F; 4:121911992-121911992 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1188C>T; p.F396F; 4:121912028-121912028 |
skin | malignant_melanoma | Substitution - coding silent |
c.18C>T; p.S6S; 4:121933021-121933021 |
skin | malignant_melanoma | Substitution - coding silent |
c.1634C>A; p.A545D; 4:121907507-121907507 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.269C>T; p.T90I; 4:121932770-121932770 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.922C>T; p.R308C; 4:121925053-121925053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.922C>T; p.R308C; 4:121925053-121925053 |
skin | malignant_melanoma | Substitution - Missense |
c.871C>G; p.L291V; 4:121925104-121925104 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.21G>A; p.L7L; 4:121933018-121933018 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.301C>T; p.R101C; 4:121932738-121932738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1548A>G; p.P516P; 4:121910179-121910179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.301C>T; p.R101C; 4:121932738-121932738 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.301C>T; p.R101C; 4:121932738-121932738 |
prostate | carcinoma | Substitution - Missense |
c.301C>T; p.R101C; 4:121932738-121932738 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.301C>T; p.R101C; 4:121932738-121932738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1716G>C; p.R572S; 4:121907425-121907425 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1974G>T; p.M658I; 4:121904382-121904382 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.410C>T; p.P137L; 4:121932629-121932629 |
skin | malignant_melanoma | Substitution - Missense |
c.2462A>G; p.D821G; 4:121879821-121879821 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.723C>T; p.L241L; 4:121932316-121932316 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.450C>T; p.Y150Y; 4:121932589-121932589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2304T>A; p.I768I; 4:121899636-121899636 |
skin | malignant_melanoma | Substitution - coding silent |
c.1965T>A; p.N655K; 4:121904391-121904391 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1620C>G; p.G540G; 4:121907521-121907521 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.436G>A; p.D146N; 4:121932603-121932603 |
pancreas | carcinoma | Substitution - Missense |
c.1566C>T; p.F522F; 4:121910161-121910161 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1838+1G>T; p.?; 4:121907302-121907302 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1329C>A; p.V443V; 4:121911887-121911887 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.347G>A; p.R116H; 4:121932692-121932692 |
breast | carcinoma | Substitution - Missense |
c.347G>A; p.R116H; 4:121932692-121932692 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.347G>A; p.R116H; 4:121932692-121932692 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1662G>A; p.A554A; 4:121907479-121907479 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.891_892insT; p.E298fs*1; 4:121925083-121925084 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1107C>T; p.I369I; 4:121914795-121914795 |
skin | malignant_melanoma | Substitution - coding silent |
c.2044G>A; p.D682N; 4:121903052-121903052 |
skin | malignant_melanoma | Substitution - Missense |
c.130C>T; p.L44F; 4:121932909-121932909 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.923G>C; p.R308P; 4:121925052-121925052 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1930G>T; p.E644*; 4:121904426-121904426 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.833G>A; p.R278Q; 4:121925142-121925142 |
skin | malignant_melanoma | Substitution - Missense |
c.383C>T; p.A128V; 4:121932656-121932656 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091C>A; p.A364D; 4:121914811-121914811 |
skin | malignant_melanoma | Substitution - Missense |
c.2226G>T; p.M742I; 4:121902870-121902870 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1429C>A; p.L477M; 4:121910298-121910298 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1917T>G; p.D639E; 4:121904439-121904439 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.412T>C; p.C138R; 4:121932627-121932627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1725G>T; p.K575N; 4:121907416-121907416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2035-1G>T; p.?; 4:121903062-121903062 |
lung | carcinoma; adenocarcinoma | Unknown |
c.191C>T; p.T64M; 4:121932848-121932848 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2016C>T; p.S672S; 4:121904340-121904340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1158T>C; p.F386F; 4:121912058-121912058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1838C>T; p.T613I; 4:121907303-121907303 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1838C>T; p.T613I; 4:121907303-121907303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.615C>T; p.H205H; 4:121932424-121932424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.615C>T; p.H205H; 4:121932424-121932424 |
breast | carcinoma | Substitution - coding silent |
c.2161A>G; p.M721V; 4:121902935-121902935 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1838C>T; p.T613I; 4:121907303-121907303 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2537G>T; p.R846I; 4:121879746-121879746 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2469C>A; p.S823R; 4:121879814-121879814 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1217A>G; p.D406G; 4:121911999-121911999 |
prostate | carcinoma | Substitution - Missense |
c.271G>A; p.E91K; 4:121932768-121932768 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1613C>T; p.S538F; 4:121907528-121907528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2378A>G; p.D793G; 4:121882380-121882380 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2378A>G; p.D793G; 4:121882380-121882380 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2353C>T; p.R785W; 4:121882405-121882405 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1107C>A; p.I369I; 4:121914795-121914795 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.370C>T; p.H124Y; 4:121932669-121932669 |
skin | malignant_melanoma | Substitution - Missense |
c.2251C>A; p.L751I; 4:121899689-121899689 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.409C>T; p.P137S; 4:121932630-121932630 |
skin | malignant_melanoma | Substitution - Missense |
c.310G>A; p.D104N; 4:121932729-121932729 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>T; p.A285S; 4:121925122-121925122 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2444G>A; p.R815H; 4:121879839-121879839 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.346C>T; p.R116C; 4:121932693-121932693 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.889C>A; p.L297M; 4:121925086-121925086 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.207C>T; p.C69C; 4:121932832-121932832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1639G>T; p.V547L; 4:121907502-121907502 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169C>T; p.A390V; 4:121912047-121912047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.902G>A; p.R301K; 4:121925073-121925073 |
skin | malignant_melanoma | Substitution - Missense |
c.1588C>T; p.L530F; 4:121907553-121907553 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1340G>A; p.G447E; 4:121910387-121910387 |
skin | malignant_melanoma | Substitution - Missense |
c.1370G>T; p.W457L; 4:121910357-121910357 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.616G>A; p.D206N; 4:121932423-121932423 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1138C>T; p.R380*; 4:121912078-121912078 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Nonsense |
c.612G>A; p.R204R; 4:121932427-121932427 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.352G>A; p.V118I; 4:121932687-121932687 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1899C>T; p.S633S; 4:121904457-121904457 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1904T>C; p.V635A; 4:121904452-121904452 |
breast | carcinoma | Substitution - Missense |
c.1880G>T; p.G627V; 4:121904476-121904476 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.62C>T; p.A21V; 4:121932977-121932977 |
skin | malignant_melanoma | Substitution - Missense |
c.1152G>A; p.M384I; 4:121912064-121912064 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1152G>A; p.M384I; 4:121912064-121912064 |
skin | malignant_melanoma | Substitution - Missense |
c.566C>T; p.P189L; 4:121932473-121932473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2128G>A; p.V710I; 4:121902968-121902968 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2404G>A; p.G802S; 4:121882354-121882354 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.930A>T; p.K310N; 4:121925045-121925045 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1065C>T; p.V355V; 4:121914837-121914837 |
skin | malignant_melanoma | Substitution - coding silent |