| Gene ID | 5244 |
| Symbol | ABCB4 |
| Synonymous | ABC21|GBD1|ICP3|MDR2|MDR2/3|MDR3|PFIC-3|PGY3 |
| Full name | ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
| Gene description | ATP-binding cassette sub-family B member 4|P glycoprotein 3/multiple drug resistance 3|P-glycoprotein 3|P-glycoprotein-3/multiple drug resistance-3|multidrug resistance protein 3|multiple drug resistance 3 |
| Cytoband | 7q21.1 |
| Gene type | protein-coding |
| Synonymous | MIM:171060; HGNC:HGNC:45; Ensembl:ENSG00000005471; HPRD:01371; Vega:OTTHUMG00000023396 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.16G>A; p.A6T; 7:87475450-87475450 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.487G>T; p.G163*; 7:87452993-87452993 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2482A>G; p.T828A; 7:87417512-87417512 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3753G>C; p.K1251N; 7:87402183-87402183 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2869C>T; p.R957*; 7:87411948-87411948 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2869C>T; p.R957*; 7:87411948-87411948 |
breast | carcinoma | Substitution - Nonsense |
c.1958T>A; p.M653K; 7:87426856-87426856 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3140C>T; p.A1047V; 7:87408176-87408176 |
skin | malignant_melanoma | Substitution - Missense |
c.3711G>T; p.Q1237H; 7:87402225-87402225 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2140G>A; p.G714R; 7:87423977-87423977 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.269G>A; p.G90E; 7:87462775-87462775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.269G>A; p.G90E; 7:87462775-87462775 |
skin | malignant_melanoma | Substitution - Missense |
c.2721G>A; p.V907V; 7:87413679-87413679 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.269G>A; p.G90E; 7:87462775-87462775 |
skin | malignant_melanoma | Substitution - Missense |
c.288G>T; p.V96V; 7:87454591-87454591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3447A>C; p.K1149N; 7:87406327-87406327 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.148G>A; p.D50N; 7:87462896-87462896 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3274A>G; p.T1092A; 7:87408042-87408042 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.823G>T; p.E275*; 7:87449978-87449978 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.148G>A; p.D50N; 7:87462896-87462896 |
pancreas | carcinoma | Substitution - Missense |
c.139C>T; p.R47*; 7:87462905-87462905 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.139C>T; p.R47*; 7:87462905-87462905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.139C>T; p.R47*; 7:87462905-87462905 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.139C>T; p.R47*; 7:87462905-87462905 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1865G>T; p.G622V; 7:87431432-87431432 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.225G>A; p.M75I; 7:87462819-87462819 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.750A>C; p.A250A; 7:87450051-87450051 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.165G>T; p.L55F; 7:87462879-87462879 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2925-8C>A; p.?; 7:87409400-87409400 |
liver | carcinoma | Unknown |
c.3117C>T; p.V1039V; 7:87408199-87408199 |
breast | carcinoma | Substitution - coding silent |
c.537-3delT; p.?; 7:87451797-87451797 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1570A>G; p.T524A; 7:87439828-87439828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.537-3delT; p.?; 7:87451797-87451797 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2422A>T; p.N808Y; 7:87418593-87418593 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3614T>C; p.L1205P; 7:87403154-87403154 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2301delT; p.F767fs*30; 7:87422136-87422136 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3137G>A; p.R1046Q; 7:87408179-87408179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3614T>C; p.L1205P; 7:87403154-87403154 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2301delT; p.F767fs*30; 7:87422136-87422136 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2469A>C; p.Q823H; 7:87418546-87418546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1587A>G; p.R529R; 7:87439811-87439811 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2060G>A; p.G687E; 7:87426754-87426754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1545C>A; p.I515I; 7:87440214-87440214 |
breast | carcinoma | Substitution - coding silent |
c.567T>C; p.G189G; 7:87451764-87451764 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.657G>A; p.V219V; 7:87451674-87451674 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3703A>T; p.T1235S; 7:87402233-87402233 |
liver | carcinoma | Substitution - Missense |
c.3703A>T; p.T1235S; 7:87402233-87402233 |
liver | carcinoma | Substitution - Missense |
c.472C>G; p.L158V; 7:87453008-87453008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3321G>A; p.W1107*; 7:87406453-87406453 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.345-4T>C; p.?; 7:87453139-87453139 |
ovary | other; neoplasm | Unknown |
c.296C>T; p.S99F; 7:87454583-87454583 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1727A>G; p.D576G; 7:87439671-87439671 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3431T>C; p.I1144T; 7:87406343-87406343 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Substitution - Missense |
c.1624G>A; p.A542T; 7:87439774-87439774 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3160G>A; p.G1054R; 7:87408156-87408156 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.29C>T; p.T10I; 7:87475437-87475437 |
oesophagus | carcinoma | Substitution - Missense |
c.3172G>C; p.E1058Q; 7:87408144-87408144 |
skin | malignant_melanoma | Substitution - Missense |
c.1014_1015delTT; p.S339fs*16; 7:87444966-87444967 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.102G>A; p.T34T; 7:87472654-87472654 |
skin | malignant_melanoma | Substitution - coding silent |
c.102G>A; p.T34T; 7:87472654-87472654 |
skin | malignant_melanoma | Substitution - coding silent |
c.1432G>T; p.E478*; 7:87440327-87440327 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2948G>T; p.G983V; 7:87409369-87409369 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2921T>C; p.I974T; 7:87411896-87411896 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.102G>A; p.T34T; 7:87472654-87472654 |
skin | malignant_melanoma | Substitution - coding silent |
c.255T>G; p.F85L; 7:87462789-87462789 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176G>T; p.G392G; 7:87443717-87443717 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.519C>A; p.L173L; 7:87452961-87452961 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3543G>A; p.Q1181Q; 7:87403225-87403225 |
liver | carcinoma | Substitution - coding silent |
c.2752A>T; p.M918L; 7:87413648-87413648 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.969C>G; p.V323V; 7:87447070-87447070 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1731+6T>A; p.?; 7:87439661-87439661 |
pancreas | carcinoma | Unknown |
c.1357-4delT; p.?; 7:87440406-87440406 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1623C>T; p.I541I; 7:87439775-87439775 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1954A>G; p.R652G; 7:87426860-87426860 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1731+6T>A; p.?; 7:87439661-87439661 |
pancreas | carcinoma | Unknown |
c.3391G>A; p.A1131T; 7:87406383-87406383 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.414G>A; p.W138*; 7:87453066-87453066 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.2136C>T; p.V712V; 7:87423981-87423981 |
skin | malignant_melanoma | Substitution - coding silent |
c.1914G>A; p.Q638Q; 7:87426900-87426900 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.3423G>A; p.Q1141Q; 7:87406351-87406351 |
skin | malignant_melanoma | Substitution - coding silent |
c.2054C>A; p.T685N; 7:87426760-87426760 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3622G>A; p.E1208K; 7:87403146-87403146 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2055C>A; p.T685T; 7:87426759-87426759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.468T>C; p.A156A; 7:87453012-87453012 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2625_2629delGAAAT; p.M875fs*10; 7:87417365-87417369 |
liver | carcinoma | Deletion - Frameshift |
c.3285C>T; p.L1095L; 7:87406489-87406489 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1036A>G; p.S346G; 7:87444945-87444945 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.463C>T; p.H155Y; 7:87453017-87453017 |
skin | malignant_melanoma | Substitution - Missense |
c.463C>T; p.H155Y; 7:87453017-87453017 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.283C>T; p.P95S; 7:87462761-87462761 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3559C>T; p.R1187*; 7:87403209-87403209 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.283C>T; p.P95S; 7:87462761-87462761 |
skin | malignant_melanoma | Substitution - Missense |
c.526C>T; p.R176W; 7:87452954-87452954 |
pancreas | carcinoma | Substitution - Missense |
c.3269C>T; p.A1090V; 7:87408047-87408047 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.526C>T; p.R176W; 7:87452954-87452954 |
pancreas | carcinoma | Substitution - Missense |
c.344+5C>A; p.?; 7:87454530-87454530 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1408G>A; p.E470K; 7:87440351-87440351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408G>A; p.E470K; 7:87440351-87440351 |
skin | malignant_melanoma | Substitution - Missense |
c.2262C>A; p.F754L; 7:87422175-87422175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2965C>A; p.H989N; 7:87409352-87409352 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3471C>T; p.I1157I; 7:87406303-87406303 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2827A>G; p.I943V; 7:87411990-87411990 |
liver | carcinoma | Substitution - Missense |
c.51G>A; p.A17A; 7:87475415-87475415 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2827A>G; p.I943V; 7:87411990-87411990 |
liver | carcinoma | Substitution - Missense |
c.2462C>T; p.A821V; 7:87418553-87418553 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2230G>A; p.D744N; 7:87422207-87422207 |
breast | carcinoma | Substitution - Missense |
c.271A>C; p.N91H; 7:87462773-87462773 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.182C>T; p.T61I; 7:87462862-87462862 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1909A>C; p.I637L; 7:87426905-87426905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3830A>G; p.Q1277R; 7:87402106-87402106 |
pancreas | carcinoma | Substitution - Missense |
c.1447T>C; p.S483P; 7:87440312-87440312 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1779G>A; p.T593T; 7:87431518-87431518 |
breast | carcinoma | Substitution - coding silent |
c.3203T>G; p.V1068G; 7:87408113-87408113 |
breast | carcinoma | Substitution - Missense |
c.1801G>A; p.A601T; 7:87431496-87431496 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2852C>T; p.S951F; 7:87411965-87411965 |
skin | malignant_melanoma | Substitution - Missense |
c.2738G>A; p.R913K; 7:87413662-87413662 |
skin | malignant_melanoma | Substitution - Missense |
c.3781G>A; p.A1261T; 7:87402155-87402155 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.940C>A; p.L314M; 7:87447099-87447099 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2694G>C; p.E898D; 7:87413706-87413706 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.213C>T; p.L71L; 7:87462831-87462831 |
skin | malignant_melanoma | Substitution - coding silent |
c.2119G>T; p.E707*; 7:87423998-87423998 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.469A>G; p.I157V; 7:87453011-87453011 |
liver | carcinoma | Substitution - Missense |
c.3336C>G; p.L1112L; 7:87406438-87406438 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1778C>T; p.T593M; 7:87431519-87431519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1553T>C; p.L518S; 7:87440206-87440206 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.850G>A; p.E284K; 7:87447189-87447189 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.140G>A; p.R47Q; 7:87462904-87462904 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3486+1G>A; p.?; 7:87406287-87406287 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.300G>A; p.L100L; 7:87454579-87454579 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3710A>G; p.Q1237R; 7:87402226-87402226 |
liver | carcinoma | Substitution - Missense |
c.3710A>G; p.Q1237R; 7:87402226-87402226 |
liver | carcinoma | Substitution - Missense |
c.573G>T; p.K191N; 7:87451758-87451758 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1845C>T; p.S615S; 7:87431452-87431452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2124G>A; p.W708*; 7:87423993-87423993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2226C>T; p.G742G; 7:87422211-87422211 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3674C>A; p.T1225N; 7:87402262-87402262 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.100_101insA; p.T34fs*21; 7:87472655-87472656 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1800C>T; p.I600I; 7:87431497-87431497 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1260G>T; p.Q420H; 7:87443415-87443415 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1748C>A; p.T583N; 7:87431549-87431549 |
skin | malignant_melanoma | Substitution - Missense |
c.3442G>C; p.A1148P; 7:87406332-87406332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.440G>T; p.R147M; 7:87453040-87453040 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3392C>T; p.A1131V; 7:87406382-87406382 |
pancreas | carcinoma | Substitution - Missense |
c.2886C>T; p.L962L; 7:87411931-87411931 |
skin | malignant_melanoma | Substitution - coding silent |
c.969C>T; p.V323V; 7:87447070-87447070 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2377A>G; p.K793E; 7:87420015-87420015 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.504C>T; p.N168N; 7:87452976-87452976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3483C>A; p.P1161P; 7:87406291-87406291 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.25G>C; p.G9R; 7:87475441-87475441 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2065-2A>G; p.?; 7:87424054-87424054 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.2249A>G; p.K750R; 7:87422188-87422188 |
breast | carcinoma | Substitution - Missense |
c.679C>A; p.L227I; 7:87451652-87451652 |
liver | carcinoma | Substitution - Missense |
c.1015delT; p.S339fs*3; 7:87444966-87444966 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1015delT; p.S339fs*3; 7:87444966-87444966 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1015delT; p.S339fs*3; 7:87444966-87444966 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.1015delT; p.S339fs*3; 7:87444966-87444966 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1015delT; p.S339fs*3; 7:87444966-87444966 |
liver | carcinoma | Deletion - Frameshift |
c.1015delT; p.S339fs*3; 7:87444966-87444966 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1015delT; p.S339fs*3; 7:87444966-87444966 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.364_365GG>TT; p.G122>?; 7:87453115-87453116 |
lung | carcinoma; adenocarcinoma | Complex |
c.3353A>G; p.E1118G; 7:87406421-87406421 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3353A>G; p.E1118G; 7:87406421-87406421 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3358A>G; p.I1120V; 7:87406416-87406416 |
liver | carcinoma | Substitution - Missense |
c.3358A>G; p.I1120V; 7:87406416-87406416 |
liver | carcinoma | Substitution - Missense |
c.2758G>T; p.V920F; 7:87413642-87413642 |
liver | carcinoma | Substitution - Missense |
c.573G>A; p.K191K; 7:87451758-87451758 |
stomach | adenocarcinoma | Substitution - coding silent |
c.2443A>T; p.T815S; 7:87418572-87418572 |
skin | malignant_melanoma | Substitution - Missense |
c.2957C>T; p.A986V; 7:87409360-87409360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2168G>A; p.G723E; 7:87423949-87423949 |
skin | malignant_melanoma | Substitution - Missense |
c.2954T>C; p.V985A; 7:87409363-87409363 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3613C>A; p.L1205M; 7:87403155-87403155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2906G>A; p.R969H; 7:87411911-87411911 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1846G>A; p.E616K; 7:87431451-87431451 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.879delA; p.A294fs*14; 7:87447160-87447160 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3231G>A; p.T1077T; 7:87408085-87408085 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.75C>T; p.I25I; 7:87475391-87475391 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.3728T>C; p.V1243A; 7:87402208-87402208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.75C>T; p.I25I; 7:87475391-87475391 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1592C>T; p.A531V; 7:87439806-87439806 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3284T>C; p.L1095P; 7:87406490-87406490 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.75C>T; p.I25I; 7:87475391-87475391 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3810C>T; p.V1270V; 7:87402126-87402126 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2312T>G; p.L771R; 7:87422125-87422125 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3831G>A; p.Q1277Q; 7:87402105-87402105 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.1057T>A; p.C353S; 7:87444924-87444924 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.539A>T; p.D180V; 7:87451792-87451792 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3377T>C; p.I1126T; 7:87406397-87406397 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3515G>A; p.G1172E; 7:87403253-87403253 |
skin | malignant_melanoma | Substitution - Missense |
c.21G>T; p.K7N; 7:87475445-87475445 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.445A>T; p.I149F; 7:87453035-87453035 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.21G>T; p.K7N; 7:87475445-87475445 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1413C>T; p.I471I; 7:87440346-87440346 |
skin | malignant_melanoma | Substitution - coding silent |
c.3440C>T; p.A1147V; 7:87406334-87406334 |
breast | carcinoma | Substitution - Missense |
c.2169delG; p.L724fs*13; 7:87423948-87423948 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1015T>G; p.S339A; 7:87444966-87444966 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3221G>A; p.G1074E; 7:87408095-87408095 |
skin | malignant_melanoma | Substitution - Missense |
c.2526T>C; p.L842L; 7:87417468-87417468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1298G>A; p.C433Y; 7:87443377-87443377 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1782C>G; p.V594V; 7:87431515-87431515 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2331G>A; p.G777G; 7:87420061-87420061 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.217C>T; p.L73F; 7:87462827-87462827 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.984T>C; p.Y328Y; 7:87447055-87447055 |
liver | carcinoma | Substitution - coding silent |
c.2368A>G; p.M790V; 7:87420024-87420024 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.652C>T; p.L218F; 7:87451679-87451679 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2662G>T; p.E888*; 7:87417332-87417332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1970G>T; p.G657V; 7:87426844-87426844 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.862G>A; p.E288K; 7:87447177-87447177 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2016A>C; p.K672N; 7:87426798-87426798 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385G>A; p.M795I; 7:87420007-87420007 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2044G>T; p.D682Y; 7:87426770-87426770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2301_2302insT; p.T768fs*26; 7:87422135-87422136 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1733C>T; p.A578V; 7:87431564-87431564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3499A>T; p.R1167*; 7:87403269-87403269 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3378T>G; p.I1126M; 7:87406396-87406396 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2757T>C; p.Y919Y; 7:87413643-87413643 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2757T>C; p.Y919Y; 7:87413643-87413643 |
liver | carcinoma | Substitution - coding silent |
c.2309T>A; p.F770Y; 7:87422128-87422128 |
skin | malignant_melanoma | Substitution - Missense |
c.2748A>G; p.E916E; 7:87413652-87413652 |
liver | carcinoma | Substitution - coding silent |
c.1931T>A; p.L644Q; 7:87426883-87426883 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306A>G; p.S436G; 7:87443369-87443369 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1634G>A; p.R545H; 7:87439764-87439764 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1634G>A; p.R545H; 7:87439764-87439764 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.165G>A; p.L55L; 7:87462879-87462879 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - coding silent |
c.754G>A; p.A252T; 7:87450047-87450047 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.456_457insG; p.F153fs*14; 7:87453023-87453024 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.2354G>A; p.R785K; 7:87420038-87420038 |
breast | carcinoma | Substitution - Missense |
c.1580G>A; p.G527E; 7:87439818-87439818 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.377G>A; p.G126E; 7:87453103-87453103 |
skin | malignant_melanoma | Substitution - Missense |
c.762C>T; p.A254A; 7:87450039-87450039 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2903T>C; p.M968T; 7:87411914-87411914 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3330T>C; p.A1110A; 7:87406444-87406444 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2898A>G; p.G966G; 7:87411919-87411919 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.760G>A; p.A254T; 7:87450041-87450041 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.760G>A; p.A254T; 7:87450041-87450041 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.462delT; p.H155fs*8; 7:87453018-87453018 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2515A>T; p.I839L; 7:87417479-87417479 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1587_1588delAG; p.A531fs*27; 7:87439810-87439811 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2369T>C; p.M790T; 7:87420023-87420023 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1130T>A; p.I377N; 7:87443763-87443763 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1345G>A; p.D449N; 7:87443330-87443330 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3258C>T; p.Y1086Y; 7:87408058-87408058 |
breast | carcinoma | Substitution - coding silent |
c.3258C>T; p.Y1086Y; 7:87408058-87408058 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1589G>A; p.G530E; 7:87439809-87439809 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1055C>T; p.P352L; 7:87444926-87444926 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>T; p.H67Y; 7:87462845-87462845 |
breast | carcinoma | Substitution - Missense |
c.899C>A; p.S300Y; 7:87447140-87447140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.216C>A; p.P72P; 7:87462828-87462828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3774G>C; p.Q1258H; 7:87402162-87402162 |
thyroid | carcinoma | Substitution - Missense |
c.3225G>C; p.K1075N; 7:87408091-87408091 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3499A>G; p.R1167G; 7:87403269-87403269 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3046C>T; p.L1016L; 7:87409271-87409271 |
skin; shoulder | malignant_melanoma | Substitution - coding silent |
c.3046C>T; p.L1016L; 7:87409271-87409271 |
skin | malignant_melanoma | Substitution - coding silent |
c.995A>T; p.N332I; 7:87447044-87447044 |
liver | carcinoma | Substitution - Missense |
c.995A>T; p.N332I; 7:87447044-87447044 |
liver | carcinoma | Substitution - Missense |
c.42C>A; p.P14P; 7:87475424-87475424 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1123C>T; p.P375S; 7:87443770-87443770 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.744T>G; p.A248A; 7:87450057-87450057 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1651C>A; p.P551T; 7:87439747-87439747 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1782C>T; p.V594V; 7:87431515-87431515 |
skin | malignant_melanoma | Substitution - coding silent |
c.2314C>T; p.Q772*; 7:87422123-87422123 |
skin | malignant_melanoma | Substitution - Nonsense |
c.709-2A>G; p.?; 7:87450094-87450094 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.731A>G; p.K244R; 7:87450070-87450070 |
skin | malignant_melanoma | Substitution - Missense |
c.1656G>C; p.K552N; 7:87439742-87439742 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2783+4A>G; p.?; 7:87413613-87413613 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.201C>T; p.H67H; 7:87462843-87462843 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2701G>A; p.E901K; 7:87413699-87413699 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3374G>A; p.S1125N; 7:87406400-87406400 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.302C>T; p.S101L; 7:87454577-87454577 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.3795C>A; p.I1265I; 7:87402141-87402141 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.146C>T; p.S49F; 7:87462898-87462898 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2362C>T; p.R788W; 7:87420030-87420030 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.94A>G; p.K32E; 7:87472662-87472662 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2092C>T; p.L698L; 7:87424025-87424025 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3179A>C; p.K1060T; 7:87408137-87408137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1680G>A; p.T560T; 7:87439718-87439718 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1680G>A; p.T560T; 7:87439718-87439718 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.475C>T; p.R159*; 7:87453005-87453005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.475C>T; p.R159*; 7:87453005-87453005 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1813G>A; p.D605N; 7:87431484-87431484 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1813G>A; p.D605N; 7:87431484-87431484 |
liver | carcinoma | Substitution - Missense |
c.1537G>C; p.E513Q; 7:87440222-87440222 |
breast | carcinoma | Substitution - Missense |
c.2727G>A; p.L909L; 7:87413673-87413673 |
breast | carcinoma | Substitution - coding silent |
c.2608T>C; p.S870P; 7:87417386-87417386 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2064+5G>T; p.?; 7:87426745-87426745 |
prostate | carcinoma | Unknown |
c.1645C>T; p.R549C; 7:87439753-87439753 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1834G>A; p.G612R; 7:87431463-87431463 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3096A>C; p.G1032G; 7:87408220-87408220 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1538A>T; p.E513V; 7:87440221-87440221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.753delA; p.A252fs*15; 7:87450048-87450048 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3074T>C; p.L1025P; 7:87409243-87409243 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1679C>T; p.T560M; 7:87439719-87439719 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1393G>A; p.V465I; 7:87440366-87440366 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3223_3224delAA; p.K1075fs*48; 7:87408092-87408093 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.1679C>T; p.T560M; 7:87439719-87439719 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.37C>T; p.R13C; 7:87475429-87475429 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1702G>T; p.E568*; 7:87439696-87439696 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.191C>T; p.A64V; 7:87462853-87462853 |
prostate | carcinoma | Substitution - Missense |
c.1994A>G; p.H665R; 7:87426820-87426820 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.100delA; p.T34fs*4; 7:87472656-87472656 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2441C>T; p.S814F; 7:87418574-87418574 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2423delA; p.N808fs*27; 7:87418592-87418592 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1744C>T; p.R582W; 7:87431553-87431553 |
large_intestine; caecum | adenoma | Substitution - Missense |
c.2137G>A; p.V713M; 7:87423980-87423980 |
pancreas | carcinoma | Substitution - Missense |
c.759C>T; p.G253G; 7:87450042-87450042 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3094G>A; p.G1032R; 7:87408222-87408222 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2137G>A; p.V713M; 7:87423980-87423980 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2137G>A; p.V713M; 7:87423980-87423980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2670A>C; p.E890D; 7:87417324-87417324 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.317G>A; p.G106D; 7:87454562-87454562 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3094G>A; p.G1032R; 7:87408222-87408222 |
skin | malignant_melanoma | Substitution - Missense |
c.635G>C; p.R212T; 7:87451696-87451696 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.641G>A; p.W214*; 7:87451690-87451690 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2220A>G; p.G740G; 7:87422217-87422217 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2701G>T; p.E901*; 7:87413699-87413699 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1131T>C; p.I377I; 7:87443762-87443762 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2701G>T; p.E901*; 7:87413699-87413699 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.175C>G; p.L59V; 7:87462869-87462869 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.430C>T; p.R144*; 7:87453050-87453050 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.430C>T; p.R144*; 7:87453050-87453050 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2054C>G; p.T685S; 7:87426760-87426760 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3765G>T; p.T1255T; 7:87402171-87402171 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.175C>G; p.L59V; 7:87462869-87462869 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1124C>A; p.P375H; 7:87443769-87443769 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118A>G; p.N373S; 7:87444863-87444863 |
parathyroid | adenoma | Substitution - Missense |
c.54G>A; p.E18E; 7:87475412-87475412 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.467C>T; p.A156V; 7:87453013-87453013 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2808C>A; p.I936I; 7:87412009-87412009 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1093T>C; p.Y365H; 7:87444888-87444888 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.54G>A; p.E18E; 7:87475412-87475412 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.322A>T; p.I108F; 7:87454557-87454557 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3631A>G; p.K1211E; 7:87403137-87403137 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.407C>T; p.S136L; 7:87453073-87453073 |
skin | malignant_melanoma | Substitution - Missense |
c.2914G>T; p.D972Y; 7:87411903-87411903 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3297A>C; p.E1099D; 7:87406477-87406477 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3575A>G; p.Q1192R; 7:87403193-87403193 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1861G>A; p.E621K; 7:87431436-87431436 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2870G>A; p.R957Q; 7:87411947-87411947 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3838T>C; p.*1280R; 7:87402098-87402098 |
stomach | carcinoma; adenocarcinoma | Nonstop extension |
c.3838T>C; p.*1280R; 7:87402098-87402098 |
liver | carcinoma | Nonstop extension |
c.3838T>C; p.*1280R; 7:87402098-87402098 |
liver | carcinoma | Nonstop extension |
c.3262C>A; p.P1088T; 7:87408054-87408054 |
breast | carcinoma | Substitution - Missense |
c.2723C>A; p.S908Y; 7:87413677-87413677 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.460T>G; p.F154V; 7:87453020-87453020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.279C>T; p.S93S; 7:87462765-87462765 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2897G>C; p.G966A; 7:87411920-87411920 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2141G>A; p.G714E; 7:87423976-87423976 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.369G>T; p.L123F; 7:87453111-87453111 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3615G>A; p.L1205L; 7:87403153-87403153 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1930C>G; p.L644V; 7:87426884-87426884 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1204T>C; p.S402P; 7:87443689-87443689 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.699T>G; p.V233V; 7:87451632-87451632 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2567T>C; p.L856S; 7:87417427-87417427 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.101C>T; p.T34M; 7:87472655-87472655 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3613C>G; p.L1205V; 7:87403155-87403155 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1878A>T; p.K626N; 7:87431419-87431419 |
ovary | other; neoplasm | Substitution - Missense |
c.3832A>G; p.N1278D; 7:87402104-87402104 |
liver | carcinoma | Substitution - Missense |
c.1548G>A; p.M516I; 7:87440211-87440211 |
skin | malignant_melanoma | Substitution - Missense |
c.3832A>G; p.N1278D; 7:87402104-87402104 |
liver | carcinoma | Substitution - Missense |
c.303G>A; p.S101S; 7:87454576-87454576 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.70G>C; p.G24R; 7:87475396-87475396 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.609delT; p.F203fs*5; 7:87451722-87451722 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1577T>G; p.V526G; 7:87439821-87439821 |
breast | carcinoma | Substitution - Missense |
c.1971C>T; p.G657G; 7:87426843-87426843 |
skin | malignant_melanoma | Substitution - coding silent |
c.3612T>G; p.A1204A; 7:87403156-87403156 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2390G>T; p.R797I; 7:87420002-87420002 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015_1016insT; p.S339fs*17; 7:87444965-87444966 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2658A>G; p.K886K; 7:87417336-87417336 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3217T>C; p.C1073R; 7:87408099-87408099 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3347C>A; p.S1116Y; 7:87406427-87406427 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1006G>T; p.V336F; 7:87444975-87444975 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.711A>T; p.I237I; 7:87450090-87450090 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.711A>T; p.I237I; 7:87450090-87450090 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |