| Gene ID | 1806 |
| Symbol | DPYD |
| Synonymous | DHP|DHPDHASE|DPD |
| Full name | dihydropyrimidine dehydrogenase |
| Gene description | dihydropyrimidine dehydrogenase [NADP(+)]|dihydrothymine dehydrogenase|dihydrouracil dehydrogenase |
| Cytoband | 1p22 |
| Gene type | protein-coding |
| Synonymous | MIM:612779; HGNC:HGNC:3012; Ensembl:ENSG00000188641; HPRD:02036; Vega:OTTHUMG00000039683 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.3023C>A; p.T1008K; 1:97079031-97079031 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.732G>T; p.E244D; 1:97691747-97691747 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.348A>C; p.I116I; 1:97721645-97721645 |
skin | malignant_melanoma | Substitution - coding silent |
c.743T>A; p.M248K; 1:97691736-97691736 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1201G>T; p.G401W; 1:97573898-97573898 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.771C>T; p.C257C; 1:97679174-97679174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2074C>T; p.R692W; 1:97306282-97306282 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1198G>T; p.G400C; 1:97573901-97573901 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1817C>T; p.S606F; 1:97450147-97450147 |
skin | malignant_melanoma | Substitution - Missense |
c.345G>A; p.M115I; 1:97721648-97721648 |
skin | malignant_melanoma | Substitution - Missense |
c.871G>A; p.D291N; 1:97595146-97595146 |
skin | malignant_melanoma | Substitution - Missense |
c.1887G>T; p.K629N; 1:97450077-97450077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1483G>A; p.D495N; 1:97549601-97549601 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.345G>A; p.M115I; 1:97721648-97721648 |
skin | malignant_melanoma | Substitution - Missense |
c.871G>A; p.D291N; 1:97595146-97595146 |
NS | malignant_melanoma | Substitution - Missense |
c.2161G>A; p.A721T; 1:97306195-97306195 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2175G>A; p.K725K; 1:97306181-97306181 |
thyroid | carcinoma | Substitution - coding silent |
c.1991C>T; p.A664V; 1:97373628-97373628 |
skin | malignant_melanoma | Substitution - Missense |
c.42T>C; p.S14S; 1:97883372-97883372 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3020G>A; p.R1007K; 1:97079034-97079034 |
skin | malignant_melanoma | Substitution - Missense |
c.2717C>T; p.P906L; 1:97098538-97098538 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.215C>G; p.A72G; 1:97828132-97828132 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2228G>A; p.G743E; 1:97305330-97305330 |
NS | malignant_melanoma | Substitution - Missense |
c.2228G>A; p.G743E; 1:97305330-97305330 |
NS | malignant_melanoma | Substitution - Missense |
c.2218G>C; p.G740R; 1:97305340-97305340 |
liver | carcinoma | Substitution - Missense |
c.541A>G; p.K181E; 1:97699490-97699490 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1303A>G; p.I435V; 1:97573796-97573796 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1706G>C; p.G569A; 1:97515760-97515760 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1893C>G; p.D631E; 1:97450071-97450071 |
pancreas | carcinoma | Substitution - Missense |
c.2644T>C; p.Y882H; 1:97098611-97098611 |
prostate | carcinoma | Substitution - Missense |
c.1667G>A; p.S556N; 1:97515799-97515799 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2026G>A; p.G676R; 1:97373593-97373593 |
skin | malignant_melanoma | Substitution - Missense |
c.2026G>A; p.G676R; 1:97373593-97373593 |
skin | malignant_melanoma | Substitution - Missense |
c.780C>A; p.S260R; 1:97679165-97679165 |
breast | carcinoma | Substitution - Missense |
c.2667C>T; p.I889I; 1:97098588-97098588 |
skin | malignant_melanoma | Substitution - coding silent |
c.58C>T; p.P20S; 1:97883356-97883356 |
skin | malignant_melanoma | Substitution - Missense |
c.1850C>T; p.T617M; 1:97450114-97450114 |
large_intestine; caecum | adenoma | Substitution - Missense |
c.2121delT; p.F707fs*4; 1:97306235-97306235 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2771T>C; p.V924A; 1:97082466-97082466 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1543G>A; p.V515I; 1:97515923-97515923 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.148T>G; p.F50V; 1:97883266-97883266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.631T>G; p.Y211D; 1:97699400-97699400 |
pancreas | carcinoma | Substitution - Missense |
c.712T>A; p.Y238N; 1:97691767-97691767 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.754G>T; p.G252C; 1:97691725-97691725 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2660A>G; p.K887R; 1:97098595-97098595 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2064A>T; p.P688P; 1:97306292-97306292 |
kidney | other; neoplasm | Substitution - coding silent |
c.1822C>T; p.L608L; 1:97450142-97450142 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2126A>G; p.K709R; 1:97306230-97306230 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3037C>T; p.P1013S; 1:97079017-97079017 |
large_intestine | NS | Substitution - Missense |
c.1627A>G; p.I543V; 1:97515839-97515839 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.753T>A; p.L251L; 1:97691726-97691726 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.1018G>T; p.A340S; 1:97593328-97593328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2623A>C; p.K875Q; 1:97098632-97098632 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.401A>T; p.D134V; 1:97721592-97721592 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2522A>T; p.K841I; 1:97193169-97193169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1213G>T; p.A405S; 1:97573886-97573886 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1740+1G>A; p.?; 1:97515725-97515725 |
skin | malignant_melanoma | Unknown |
c.2942C>A; p.T981N; 1:97079112-97079112 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.642C>G; p.I214M; 1:97699389-97699389 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2350G>T; p.A784S; 1:97234944-97234944 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.648A>C; p.I216I; 1:97699383-97699383 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.754G>A; p.G252S; 1:97691725-97691725 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2315C>T; p.P772L; 1:97234979-97234979 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.471A>C; p.Q157H; 1:97721522-97721522 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2467G>A; p.D823N; 1:97193224-97193224 |
skin | malignant_melanoma | Substitution - Missense |
c.1243G>A; p.E415K; 1:97573856-97573856 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1243G>A; p.E415K; 1:97573856-97573856 |
skin | malignant_melanoma | Substitution - Missense |
c.1243G>A; p.E415K; 1:97573856-97573856 |
skin | malignant_melanoma | Substitution - Missense |
c.3034G>A; p.E1012K; 1:97079020-97079020 |
skin | malignant_melanoma | Substitution - Missense |
c.3034G>A; p.E1012K; 1:97079020-97079020 |
skin | malignant_melanoma | Substitution - Missense |
c.1010T>C; p.V337A; 1:97593336-97593336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2367C>T; p.P789P; 1:97234927-97234927 |
skin | malignant_melanoma | Substitution - coding silent |
c.1022G>A; p.G341E; 1:97593324-97593324 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.334G>A; p.A112T; 1:97721659-97721659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2059G>A; p.D687N; 1:97306297-97306297 |
skin | malignant_melanoma | Substitution - Missense |
c.2795T>C; p.L932P; 1:97082442-97082442 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1170C>T; p.F390F; 1:97573929-97573929 |
oesophagus | carcinoma | Substitution - coding silent |
c.260G>T; p.C87F; 1:97740453-97740453 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1093A>T; p.K365*; 1:97593253-97593253 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.400G>A; p.D134N; 1:97721593-97721593 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.575T>C; p.L192P; 1:97699456-97699456 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.767T>A; p.I256N; 1:97679178-97679178 |
skin | malignant_melanoma | Substitution - Missense |
c.1732C>T; p.L578F; 1:97515734-97515734 |
skin | malignant_melanoma | Substitution - Missense |
c.670G>T; p.G224C; 1:97699361-97699361 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.2909C>A; p.A970D; 1:97079145-97079145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1083C>T; p.I361I; 1:97593263-97593263 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1096G>C; p.G366R; 1:97593250-97593250 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1083C>T; p.I361I; 1:97593263-97593263 |
skin | malignant_melanoma | Substitution - coding silent |
c.2310C>G; p.I770M; 1:97234984-97234984 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2600G>T; p.R867L; 1:97193091-97193091 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2600G>T; p.R867L; 1:97193091-97193091 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239G>C; p.D747H; 1:97305319-97305319 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.20A>G; p.K7R; 1:97920903-97920903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2897C>A; p.S966Y; 1:97082340-97082340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2897C>A; p.S966Y; 1:97082340-97082340 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.247G>A; p.A83T; 1:97740466-97740466 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.497T>A; p.M166K; 1:97699534-97699534 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1149A>G; p.E383E; 1:97573950-97573950 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1386A>G; p.P462P; 1:97549698-97549698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.866A>G; p.N289S; 1:97595151-97595151 |
liver | carcinoma | Substitution - Missense |
c.1149A>G; p.E383E; 1:97573950-97573950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.574C>T; p.L192F; 1:97699457-97699457 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2194G>A; p.V732I; 1:97305364-97305364 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.498G>A; p.M166I; 1:97699533-97699533 |
skin | malignant_melanoma | Substitution - Missense |
c.2647C>G; p.L883V; 1:97098608-97098608 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.323A>C; p.N108T; 1:97721670-97721670 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2756C>T; p.P919L; 1:97098499-97098499 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.531T>A; p.P177P; 1:97699500-97699500 |
skin | malignant_melanoma | Substitution - coding silent |
c.2683A>G; p.I895V; 1:97098572-97098572 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2112T>G; p.I704M; 1:97306244-97306244 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1310C>T; p.A437V; 1:97573789-97573789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1757T>G; p.V586G; 1:97450207-97450207 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996G>T; p.E666*; 1:97373623-97373623 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.441G>T; p.E147D; 1:97721552-97721552 |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1339G>T; p.V447L; 1:97573760-97573760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3012G>A; p.M1004I; 1:97079042-97079042 |
skin | malignant_melanoma | Substitution - Missense |
c.2532A>G; p.E844E; 1:97193159-97193159 |
liver | carcinoma | Substitution - coding silent |
c.3072G>T; p.V1024V; 1:97078982-97078982 |
prostate | carcinoma | Substitution - coding silent |
c.1651G>A; p.A551T; 1:97515815-97515815 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>G; p.L192V; 1:97699457-97699457 |
liver | carcinoma | Substitution - Missense |
c.574C>G; p.L192V; 1:97699457-97699457 |
liver | carcinoma | Substitution - Missense |
c.2532A>G; p.E844E; 1:97193159-97193159 |
liver | carcinoma | Substitution - coding silent |
c.1180C>A; p.R394R; 1:97573919-97573919 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.565A>C; p.K189Q; 1:97699466-97699466 |
skin | malignant_melanoma | Substitution - Missense |
c.526C>T; p.L176L; 1:97699505-97699505 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2444T>A; p.V815E; 1:97193247-97193247 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2444T>A; p.V815E; 1:97193247-97193247 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2444T>A; p.V815E; 1:97193247-97193247 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2794C>T; p.L932F; 1:97082443-97082443 |
skin | malignant_melanoma | Substitution - Missense |
c.2980A>G; p.S994G; 1:97079074-97079074 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096G>A; p.G366S; 1:97593250-97593250 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.633C>T; p.Y211Y; 1:97699398-97699398 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1535G>A; p.G512E; 1:97515931-97515931 |
skin | malignant_melanoma | Substitution - Missense |
c.967G>C; p.A323P; 1:97593379-97593379 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1121C>A; p.P374H; 1:97593225-97593225 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1931G>T; p.S644I; 1:97382436-97382436 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2351C>G; p.A784G; 1:97234943-97234943 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.2193C>T; p.G731G; 1:97305365-97305365 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.670G>A; p.G224S; 1:97699361-97699361 |
skin | malignant_melanoma | Substitution - Missense |
c.990G>A; p.S330S; 1:97593356-97593356 |
breast | carcinoma | Substitution - coding silent |
c.1131G>A; p.M377I; 1:97573968-97573968 |
skin | malignant_melanoma | Substitution - Missense |
c.26C>T; p.S9L; 1:97920897-97920897 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.756T>C; p.G252G; 1:97691723-97691723 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2667C>A; p.I889I; 1:97098588-97098588 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3028C>A; p.P1010T; 1:97079026-97079026 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.3028C>A; p.P1010T; 1:97079026-97079026 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1728C>A; p.F576L; 1:97515738-97515738 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3028C>A; p.P1010T; 1:97079026-97079026 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2767G>A; p.D923N; 1:97082470-97082470 |
NS | malignant_melanoma | Substitution - Missense |
c.1024G>A; p.D342N; 1:97593322-97593322 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2767G>A; p.D923N; 1:97082470-97082470 |
NS | malignant_melanoma | Substitution - Missense |
c.1633_1634CC>TT; p.P545F; 1:97515832-97515833 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3051A>G; p.V1017V; 1:97079003-97079003 |
pancreas | carcinoma | Substitution - coding silent |
c.1089delC; p.F363fs*8; 1:97593257-97593257 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1831G>A; p.E611K; 1:97450133-97450133 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1344A>C; p.K448N; 1:97549740-97549740 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.2691G>A; p.L897L; 1:97098564-97098564 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1844A>C; p.E615A; 1:97450120-97450120 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3029C>A; p.P1010H; 1:97079025-97079025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3029C>A; p.P1010H; 1:97079025-97079025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3029C>A; p.P1010H; 1:97079025-97079025 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.3029C>A; p.P1010H; 1:97079025-97079025 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3029C>A; p.P1010H; 1:97079025-97079025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.989C>T; p.S330L; 1:97593357-97593357 |
skin | malignant_melanoma | Substitution - Missense |
c.3044G>A; p.R1015K; 1:97079010-97079010 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2695G>T; p.E899*; 1:97098560-97098560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2695G>T; p.E899*; 1:97098560-97098560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2695G>T; p.E899*; 1:97098560-97098560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2551G>A; p.G851R; 1:97193140-97193140 |
skin | malignant_melanoma | Substitution - Missense |
c.2551G>A; p.G851R; 1:97193140-97193140 |
skin | malignant_melanoma | Substitution - Missense |
c.2551G>A; p.G851R; 1:97193140-97193140 |
skin | malignant_melanoma | Substitution - Missense |
c.232A>T; p.R78*; 1:97828115-97828115 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1615G>C; p.G539R; 1:97515851-97515851 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2365C>T; p.P789S; 1:97234929-97234929 |
skin | malignant_melanoma | Substitution - Missense |
c.2997C>T; p.V999V; 1:97079057-97079057 |
breast | carcinoma | Substitution - coding silent |
c.2365C>T; p.P789S; 1:97234929-97234929 |
skin | malignant_melanoma | Substitution - Missense |
c.611C>T; p.S204F; 1:97699420-97699420 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.611C>T; p.S204F; 1:97699420-97699420 |
skin | malignant_melanoma | Substitution - Missense |
c.2365C>T; p.P789S; 1:97234929-97234929 |
skin | malignant_melanoma | Substitution - Missense |
c.2365C>T; p.P789S; 1:97234929-97234929 |
skin | malignant_melanoma | Substitution - Missense |
c.611C>T; p.S204F; 1:97699420-97699420 |
skin | malignant_melanoma | Substitution - Missense |
c.611C>T; p.S204F; 1:97699420-97699420 |
skin | malignant_melanoma | Substitution - Missense |
c.1381C>A; p.L461I; 1:97549703-97549703 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1339+1G>C; p.?; 1:97573759-97573759 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.403C>T; p.L135F; 1:97721590-97721590 |
skin | malignant_melanoma | Substitution - Missense |
c.1682G>A; p.R561Q; 1:97515784-97515784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682G>A; p.R561Q; 1:97515784-97515784 |
skin | malignant_melanoma | Substitution - Missense |
c.1146A>T; p.E382D; 1:97573953-97573953 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2686A>G; p.R896G; 1:97098569-97098569 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2896T>C; p.S966P; 1:97082341-97082341 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682G>A; p.R561Q; 1:97515784-97515784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2269G>A; p.A757T; 1:97305289-97305289 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1069C>T; p.R357C; 1:97593277-97593277 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1069C>T; p.R357C; 1:97593277-97593277 |
skin | malignant_melanoma | Substitution - Missense |
c.1257G>A; p.W419*; 1:97573842-97573842 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2809G>A; p.E937K; 1:97082428-97082428 |
skin | malignant_melanoma | Substitution - Missense |
c.359A>G; p.N120S; 1:97721634-97721634 |
skin | malignant_melanoma | Substitution - Missense |
c.2913A>G; p.I971M; 1:97079141-97079141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1965G>T; p.K655N; 1:97382402-97382402 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1562T>A; p.L521Q; 1:97515904-97515904 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2033G>A; p.R678K; 1:97373586-97373586 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2237C>T; p.S746F; 1:97305321-97305321 |
skin | malignant_melanoma | Substitution - Missense |
c.600A>G; p.I200M; 1:97699431-97699431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.427T>G; p.Y143D; 1:97721566-97721566 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.452A>C; p.N151T; 1:97721541-97721541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2114C>T; p.P705L; 1:97306242-97306242 |
skin | malignant_melanoma | Substitution - Missense |
c.1893C>A; p.D631E; 1:97450071-97450071 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.365T>C; p.L122P; 1:97721628-97721628 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080C>T; p.F360F; 1:97593266-97593266 |
skin | malignant_melanoma | Substitution - coding silent |
c.2617G>A; p.D873N; 1:97193074-97193074 |
skin | malignant_melanoma | Substitution - Missense |
c.2617G>A; p.D873N; 1:97193074-97193074 |
skin | malignant_melanoma | Substitution - Missense |
c.1560A>C; p.E520D; 1:97515906-97515906 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2767-3delT; p.?; 1:97082473-97082473 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.2452G>T; p.A818S; 1:97193239-97193239 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1186G>A; p.V396I; 1:97573913-97573913 |
skin | malignant_melanoma | Substitution - Missense |
c.538G>A; p.E180K; 1:97699493-97699493 |
skin | malignant_melanoma | Substitution - Missense |
c.2347C>T; p.R783C; 1:97234947-97234947 |
NS | malignant_melanoma | Substitution - Missense |
c.1373G>A; p.R458K; 1:97549711-97549711 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.1525-2A>G; p.?; 1:97515943-97515943 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1373G>A; p.R458K; 1:97549711-97549711 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1945G>T; p.D649Y; 1:97382422-97382422 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1945G>T; p.D649Y; 1:97382422-97382422 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1615G>A; p.G539R; 1:97515851-97515851 |
prostate | carcinoma | Substitution - Missense |
c.1615G>A; p.G539R; 1:97515851-97515851 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073G>A; p.R358H; 1:97593273-97593273 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1661C>T; p.A554V; 1:97515805-97515805 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.680G>T; p.S227I; 1:97699351-97699351 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.283C>A; p.L95I; 1:97740430-97740430 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.863C>T; p.P288L; 1:97595154-97595154 |
skin | malignant_melanoma | Substitution - Missense |
c.2011T>G; p.C671G; 1:97373608-97373608 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2011T>G; p.C671G; 1:97373608-97373608 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.481G>A; p.E161K; 1:97721512-97721512 |
oesophagus | carcinoma | Substitution - Missense |
c.567G>T; p.K189N; 1:97699464-97699464 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2482G>A; p.E828K; 1:97193209-97193209 |
skin | malignant_melanoma | Substitution - Missense |
c.1132G>T; p.E378*; 1:97573967-97573967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2482G>A; p.E828K; 1:97193209-97193209 |
skin | malignant_melanoma | Substitution - Missense |
c.496A>G; p.M166V; 1:97699535-97699535 |
breast | carcinoma | Substitution - Missense |
c.680G>A; p.S227N; 1:97699351-97699351 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.486A>G; p.V162V; 1:97699545-97699545 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.398C>T; p.S133F; 1:97721595-97721595 |
skin | malignant_melanoma | Substitution - Missense |
c.3043A>T; p.R1015*; 1:97079011-97079011 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Nonsense |
c.844G>T; p.G282*; 1:97679101-97679101 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.62G>A; p.R21Q; 1:97883352-97883352 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2481C>T; p.I827I; 1:97193210-97193210 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.2835G>T; p.V945V; 1:97082402-97082402 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.504C>T; p.I168I; 1:97699527-97699527 |
skin | malignant_melanoma | Substitution - coding silent |
c.1724C>T; p.T575I; 1:97515742-97515742 |
skin | malignant_melanoma | Substitution - Missense |
c.504C>T; p.I168I; 1:97699527-97699527 |
skin | malignant_melanoma | Substitution - coding silent |
c.1719C>T; p.T573T; 1:97515747-97515747 |
skin | malignant_melanoma | Substitution - coding silent |
c.2426G>T; p.G809V; 1:97234868-97234868 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2481C>T; p.I827I; 1:97193210-97193210 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1250G>A; p.G417E; 1:97573849-97573849 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.1658C>G; p.P553R; 1:97515808-97515808 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2655G>C; p.Q885H; 1:97098600-97098600 |
prostate | carcinoma | Substitution - Missense |
c.1760C>T; p.S587F; 1:97450204-97450204 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2869G>T; p.G957C; 1:97082368-97082368 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2708C>T; p.A903V; 1:97098547-97098547 |
skin | malignant_melanoma | Substitution - Missense |
c.2150T>G; p.I717S; 1:97306206-97306206 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1123G>A; p.E375K; 1:97593223-97593223 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1614C>T; p.A538A; 1:97515852-97515852 |
skin | malignant_melanoma | Substitution - coding silent |
c.390T>C; p.C130C; 1:97721603-97721603 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1384C>A; p.P462T; 1:97549700-97549700 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.133C>T; p.P45S; 1:97883281-97883281 |
skin | malignant_melanoma | Substitution - Missense |
c.46C>A; p.L16M; 1:97883368-97883368 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1369A>T; p.N457Y; 1:97549715-97549715 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.133C>T; p.P45S; 1:97883281-97883281 |
skin | malignant_melanoma | Substitution - Missense |
c.1369A>T; p.N457Y; 1:97549715-97549715 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2546G>T; p.W849L; 1:97193145-97193145 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2865C>T; p.N955N; 1:97082372-97082372 |
skin | malignant_melanoma | Substitution - coding silent |
c.622C>T; p.R208*; 1:97699409-97699409 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2586G>A; p.G862G; 1:97193105-97193105 |
skin | malignant_melanoma | Substitution - coding silent |
c.1113A>T; p.R371S; 1:97593233-97593233 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.102G>C; p.K34N; 1:97883312-97883312 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2137A>C; p.N713H; 1:97306219-97306219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1634C>T; p.P545L; 1:97515832-97515832 |
skin | malignant_melanoma | Substitution - Missense |
c.2010A>T; p.S670S; 1:97373609-97373609 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1524+2T>A; p.?; 1:97549558-97549558 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.3048C>T; p.G1016G; 1:97079006-97079006 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1574A>G; p.Y525C; 1:97515892-97515892 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.331G>A; p.G111R; 1:97721662-97721662 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447G>A; p.V483I; 1:97549637-97549637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845G>A; p.D949N; 1:97082392-97082392 |
skin | malignant_melanoma | Substitution - Missense |
c.1447G>A; p.V483I; 1:97549637-97549637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2865C>A; p.N955K; 1:97082372-97082372 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.612C>T; p.S204S; 1:97699419-97699419 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2051G>A; p.C684Y; 1:97373568-97373568 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845G>A; p.D949N; 1:97082392-97082392 |
skin | malignant_melanoma | Substitution - Missense |
c.372G>A; p.L124L; 1:97721621-97721621 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.372G>A; p.L124L; 1:97721621-97721621 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.819A>C; p.E273D; 1:97679126-97679126 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2383G>A; p.G795R; 1:97234911-97234911 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.958G>T; p.G320*; 1:97595059-97595059 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.49G>A; p.A17T; 1:97883365-97883365 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.R394Q; 1:97573918-97573918 |
large_intestine; colon | NS | Substitution - Missense |
c.802C>T; p.L268F; 1:97679143-97679143 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.809C>T; p.T270I; 1:97679136-97679136 |
skin | malignant_melanoma | Substitution - Missense |
c.2893G>A; p.D965N; 1:97082344-97082344 |
skin | malignant_melanoma | Substitution - Missense |
c.2647C>T; p.L883L; 1:97098608-97098608 |
skin | malignant_melanoma | Substitution - coding silent |
c.1794C>G; p.P598P; 1:97450170-97450170 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.562G>C; p.A188P; 1:97699469-97699469 |
skin | malignant_melanoma | Substitution - Missense |
c.1386A>C; p.P462P; 1:97549698-97549698 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2858G>A; p.C953Y; 1:97082379-97082379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2005T>G; p.L669V; 1:97373614-97373614 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.879C>A; p.I293I; 1:97595138-97595138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.661G>A; p.E221K; 1:97699370-97699370 |
skin | malignant_melanoma | Substitution - Missense |
c.1770C>T; p.I590I; 1:97450194-97450194 |
skin | malignant_melanoma | Substitution - coding silent |
c.2516A>T; p.Y839F; 1:97193175-97193175 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2418C>T; p.L806L; 1:97234876-97234876 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.2630C>A; p.P877Q; 1:97098625-97098625 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1900G>T; p.D634Y; 1:97450064-97450064 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2004T>A; p.N668K; 1:97373615-97373615 |
skin | malignant_melanoma | Substitution - Missense |
c.2062C>T; p.P688S; 1:97306294-97306294 |
skin | malignant_melanoma | Substitution - Missense |
c.2926G>T; p.E976*; 1:97079128-97079128 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2412G>C; p.Q804H; 1:97234882-97234882 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2216C>G; p.S739*; 1:97305342-97305342 |
breast | carcinoma | Substitution - Nonsense |
c.2981G>A; p.S994N; 1:97079073-97079073 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2580G>A; p.Q860Q; 1:97193111-97193111 |
skin | malignant_melanoma | Substitution - coding silent |
c.128G>T; p.R43I; 1:97883286-97883286 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1249G>T; p.G417*; 1:97573850-97573850 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.922G>A; p.D308N; 1:97595095-97595095 |
skin | malignant_melanoma | Substitution - Missense |
c.2113C>T; p.P705S; 1:97306243-97306243 |
skin | malignant_melanoma | Substitution - Missense |
c.1097G>T; p.G366V; 1:97593249-97593249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.31G>A; p.D11N; 1:97920892-97920892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185G>A; p.A729T; 1:97305373-97305373 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1945G>A; p.D649N; 1:97382422-97382422 |
skin | malignant_melanoma | Substitution - Missense |
c.2619C>G; p.D873E; 1:97193072-97193072 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1993C>T; p.L665L; 1:97373626-97373626 |
skin | malignant_melanoma | Substitution - coding silent |
c.1985C>T; p.A662V; 1:97373634-97373634 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.942C>G; p.A314A; 1:97595075-97595075 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1993C>T; p.L665L; 1:97373626-97373626 |
skin | malignant_melanoma | Substitution - coding silent |
c.942C>G; p.A314A; 1:97595075-97595075 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1681C>T; p.R561*; 1:97515785-97515785 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1229G>A; p.R410Q; 1:97573870-97573870 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1003G>A; p.V335M; 1:97593343-97593343 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1229G>A; p.R410Q; 1:97573870-97573870 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681C>T; p.R561*; 1:97515785-97515785 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1003G>A; p.V335M; 1:97593343-97593343 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1229G>A; p.R410Q; 1:97573870-97573870 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.189G>T; p.K63N; 1:97828158-97828158 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2895T>C; p.D965D; 1:97082342-97082342 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.128G>A; p.R43K; 1:97883286-97883286 |
skin | malignant_melanoma | Substitution - Missense |
c.2394T>C; p.S798S; 1:97234900-97234900 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1385C>T; p.P462L; 1:97549699-97549699 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2013T>C; p.C671C; 1:97373606-97373606 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.424T>G; p.L142V; 1:97721569-97721569 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2214C>A; p.V738V; 1:97305344-97305344 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2013T>C; p.C671C; 1:97373606-97373606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2579A>G; p.Q860R; 1:97193112-97193112 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.547T>C; p.S183P; 1:97699484-97699484 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.652G>A; p.E218K; 1:97699379-97699379 |
skin | malignant_melanoma | Substitution - Missense |
c.286G>A; p.D96N; 1:97740427-97740427 |
skin | malignant_melanoma | Substitution - Missense |
c.286G>A; p.D96N; 1:97740427-97740427 |
skin | malignant_melanoma | Substitution - Missense |
c.286G>A; p.D96N; 1:97740427-97740427 |
skin | malignant_melanoma | Substitution - Missense |
c.1487G>A; p.G496E; 1:97549597-97549597 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1475C>T; p.S492L; 1:97549609-97549609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1475C>T; p.S492L; 1:97549609-97549609 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2276G>A; p.R759Q; 1:97305282-97305282 |
skin | malignant_melanoma | Substitution - Missense |
c.2276G>A; p.R759Q; 1:97305282-97305282 |
skin | malignant_melanoma | Substitution - Missense |
c.2011T>C; p.C671R; 1:97373608-97373608 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1412C>G; p.T471S; 1:97549672-97549672 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2593G>T; p.V865F; 1:97193098-97193098 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1259A>T; p.N420I; 1:97573840-97573840 |
skin | malignant_melanoma | Substitution - Missense |
c.2147A>C; p.D716A; 1:97306209-97306209 |
skin | malignant_melanoma | Substitution - Missense |
c.1084G>A; p.V362I; 1:97593262-97593262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084G>A; p.V362I; 1:97593262-97593262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.963G>A; p.M321I; 1:97593383-97593383 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.1315G>A; p.G439S; 1:97573784-97573784 |
skin | malignant_melanoma | Substitution - Missense |
c.450T>C; p.I150I; 1:97721543-97721543 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1077G>C; p.V359V; 1:97593269-97593269 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2384G>A; p.G795E; 1:97234910-97234910 |
skin | malignant_melanoma | Substitution - Missense |
c.968C>A; p.A323D; 1:97593378-97593378 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.967G>A; p.A323T; 1:97593379-97593379 |
skin | malignant_melanoma | Substitution - Missense |
c.3042G>A; p.K1014K; 1:97079012-97079012 |
skin | malignant_melanoma | Substitution - coding silent |
c.2755C>T; p.P919S; 1:97098500-97098500 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1437T>G; p.G479G; 1:97549647-97549647 |
breast | carcinoma | Substitution - coding silent |
c.276A>T; p.P92P; 1:97740437-97740437 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2714C>T; p.S905L; 1:97098541-97098541 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2275C>T; p.R759*; 1:97305283-97305283 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.923A>T; p.D308V; 1:97595094-97595094 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2434G>A; p.V812I; 1:97234860-97234860 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.609T>A; p.A203A; 1:97699422-97699422 |
skin | malignant_melanoma | Substitution - coding silent |
c.1043C>G; p.A348G; 1:97593303-97593303 |
pancreas | carcinoma | Substitution - Missense |
c.2777G>A; p.G926E; 1:97082460-97082460 |
skin | malignant_melanoma | Substitution - Missense |
c.2777G>A; p.G926E; 1:97082460-97082460 |
skin | malignant_melanoma | Substitution - Missense |
c.1167A>G; p.P389P; 1:97573932-97573932 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.755G>T; p.G252V; 1:97691724-97691724 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.755G>T; p.G252V; 1:97691724-97691724 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.233+1G>T; p.?; 1:97828113-97828113 |
prostate | carcinoma | Unknown |
c.367G>T; p.G123C; 1:97721626-97721626 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.653A>C; p.E218A; 1:97699378-97699378 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.367G>T; p.G123C; 1:97721626-97721626 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |