| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 672 |
Name | BRCA1 |
Synonymous | BRCAI|BRCC1|BROVCA1|IRIS|PNCA4|PPP1R53|PSCP|RNF53;breast cancer 1, early onset;BRCA1;breast cancer 1, early onset |
Definition | BRCA1/BRCA2-containing complex, subunit 1|RING finger protein 53|breast and ovarian cancer susceptibility protein 1|breast and ovarian cancer sususceptibility protein 1|breast cancer type 1 susceptibility protein|protein phosphatase 1, regulatory subunit |
Position | 17q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BRCA1 | ||
PCGP somatic mutation [Top] | ||
There is no record for BRCA1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2803A>T; p.K935*; |
liver | carcinoma; hepatocellular_carcinoma |
c.1031C>T; p.A344V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma |
c.3199A>T; p.N1067Y; |
large_intestine | carcinoma; adenocarcinoma |
c.2060A>C; p.Q687P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1108G>A; p.V370I; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.5440delG; p.A1814fs*20; 17:38453213-38453213 |
ovary | carcinoma; serous_carcinoma |
c.3548_3549delAA; p.K1183fs*4; 17:38497525-38497526 |
endometrium | carcinoma |
c.2773_2774insA; p.I925fs*13; 17:38498300-38498301 |
breast | carcinoma; ductal_carcinoma |
c.3026C>A; p.S1009*; 17:38498048-38498048 |
ovary | carcinoma; serous_carcinoma |
c.1-3G>C; p.?; 17:38529642-38529642 |
breast | carcinoma; ductal_carcinoma |
c.1-3G>C; p.?; 17:38529642-38529642 |
breast | carcinoma; ductal_carcinoma |
c.134+1G>T; p.?; 17:38521268-38521268 |
ovary | carcinoma; serous_carcinoma |
c.2450delG; p.G817fs*29; 17:38498624-38498624 |
ovary | carcinoma; serous_carcinoma |
c.2269delG; p.V757fs*8; 17:38498805-38498805 |
ovary | carcinoma; endometrioid_carcinoma |
c.?; p.Q1420*; |
ovary | carcinoma; serous_carcinoma |
c.?; p.R1835*; |
ovary | carcinoma; serous_carcinoma |
c.2269delG; p.V757fs*8; 17:38498805-38498805 |
ovary | carcinoma; serous_carcinoma |
c.1960_1961insA; p.Y655fs*18; 17:38499113-38499114 |
ovary | carcinoma; serous_carcinoma |
c.?; p.E730*; |
ovary | carcinoma; serous_carcinoma |
c.1116G>A; p.W372*; 17:38499958-38499958 |
breast | carcinoma; ductal_carcinoma |
c.3862delG; p.E1288fs*19; 17:38497212-38497212 |
breast | carcinoma; ductal_carcinoma |
c.3436_3439delTGTT; p.C1146fs*8; 17:38497635-38497638 |
ovary | carcinoma; serous_carcinoma |
c.5278-1G>T; p.?; 17:38456661-38456661 |
ovary | carcinoma; serous_carcinoma |
c.2604_2605insGTCA; p.F869fs*35; 17:38498469-38498470 |
ovary | carcinoma |
c.2958C>G; p.I986M; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.889A>G; p.M297V; |
lung | carcinoma; squamous_cell_carcinoma |
c.4930G>T; p.E1644*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1352C>G; p.S451*; 17:38499722-38499722 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2963C>G; p.S988*; 17:38498111-38498111 |
breast | carcinoma; ductal_carcinoma |
c.191_212del22; p.C64fs*1; 17:38511999-38512020 |
breast | carcinoma; ductal_carcinoma |
c.114G>T; p.K38N; 17:38521289-38521289 |
breast | carcinoma; ductal_carcinoma |
c.925A>C; p.K309Q; 17:38500149-38500149 |
breast | carcinoma; ductal_carcinoma |
c.824G>A; p.G275D; 17:38500250-38500250 |
breast | carcinoma; lobular_carcinoma |
c.859_863delAACAG; p.N287fs*6; 17:38500211-38500215 |
ovary | carcinoma |
c.2446_2456del11; p.H816fs*3; 17:38498618-38498628 |
ovary | carcinoma |
c.2506G>T; p.E836*; 17:38498568-38498568 |
ovary | carcinoma |
c.4825G>T; p.E1609*; 17:38476632-38476632 |
ovary | carcinoma |
c.?; p.E29*; |
ovary | carcinoma |
c.1961_1961delA; p.K654fs*47; 17:38499113-38499113 |
ovary | carcinoma |
c.?; p.G1738R; |
ovary | carcinoma |
c.3229G>T; p.G1077W; 17:38497845-38497845 |
lung | carcinoma; adenocarcinoma |
c.?; p.Q1756fs*74; |
ovary | carcinoma; serous_carcinoma |
c.?; p.Y1522*; |
ovary | carcinoma; serous_carcinoma |
c.?; p.E23fs*17; |
ovary | carcinoma; serous_carcinoma |
c.?; p.A17fs*14; |
ovary | carcinoma; serous_carcinoma |
c.?; p.E23fs*17; |
ovary | carcinoma; serous_carcinoma |
c.?; p.Q1756fs*75; |
ovary | carcinoma; serous_carcinoma |
c.?; p.M1775fs*54; |
ovary | carcinoma; serous_carcinoma |
c.?; p.E23fs*17; |
ovary | carcinoma; serous_carcinoma |
c.3526_3526delG; p.V1176fs*34; 17:38497548-38497548 |
ovary | carcinoma; serous_carcinoma |
c.3762_3766delGAACA; p.K1254fs*11; 17:38497308-38497312 |
ovary | carcinoma; serous_carcinoma |
c.3827T>A; p.L1276*; 17:38497247-38497247 |
ovary | carcinoma; serous_carcinoma |
c.5380G>T; p.E1794*; 17:38454690-38454690 |
ovary | carcinoma; serous_carcinoma |
c.4162C>G; p.Q1388E; |
NS | NS |
c.4025C>T; p.S1342L; |
NS | NS |
c.32_33insC; p.Q12fs*5; 17:38529607-38529608 |
ovary | carcinoma; transitional_cell_carcinoma |
c.5383_5384insT; p.S1796fs*34; 17:38454686-38454687 |
ovary | carcinoma; undifferentiated_carcinoma |
c.5173G>T; p.E1725*; 17:38468896-38468896 |
ovary | carcinoma; mixed_carcinoma |
c.4269C>G; p.S1423R; |
lung | carcinoma; small_cell_carcinoma |
c.4150G>T; p.G1384W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3761A>C; p.K1254T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1616C>T; p.T539M; |
pancreas | carcinoma |
c.3031G>A; p.E1011K; |
breast | carcinoma; HER-positive_carcinoma |
c.4005G>C; p.L1335L; |
breast | carcinoma; HER-positive_carcinoma |
c.2332G>T; p.G778C; 17:38498742-38498742 |
breast | carcinoma; ductal_carcinoma |
c.2274G>C; p.L758F; 17:38498800-38498800 |
breast | carcinoma; ductolobular_carcinoma |
c.5023A>G; p.T1675A; |
liver | carcinoma |
c.1883G>A; p.S628N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3671C>T; p.P1224L; |
oesophagus | carcinoma; adenocarcinoma |
c.2521C>T; p.R841W; |
oesophagus | carcinoma; adenocarcinoma |
c.1865C>T; p.A622V; |
oesophagus | carcinoma; adenocarcinoma |
c.5447C>G; p.T1816R; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.2426A>G; p.E809G; |
stomach | carcinoma; adenocarcinoma |
c.3548A>G; p.K1183R; |
stomach | carcinoma; adenocarcinoma |
c.2612C>T; p.P871L; |
stomach | carcinoma; adenocarcinoma |
c.2082C>T; p.S694S; |
stomach | carcinoma; adenocarcinoma |
c.3042G>A; p.M1014I; |
lung | carcinoma; adenocarcinoma |
c.5263_5264insC; p.Q1756fs*74; 17:38462608-38462609 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.90G>T; p.L30F; 17:38521313-38521313 |
breast | carcinoma; ductal_carcinoma |
c.90G>T; p.L30F; 17:38521313-38521313 |
breast | carcinoma; ductal_carcinoma |
c.5000A>C; p.K1667T; |
liver | carcinoma |
c.3563G>A; p.R1188K; |
liver | carcinoma |
c.340T>A; p.S114T; 17:38509766-38509766 |
urinary_tract; bladder | carcinoma |
c.2684A>G; p.Q895R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4946G>A; p.R1649K; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.4324C>T; p.L1442L; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.4641G>T; p.L1547F; |
lung | carcinoma; adenocarcinoma |
c.1518G>T; p.R506S; |
lung | carcinoma; adenocarcinoma |
c.427G>C; p.E143Q; |
lung | carcinoma; adenocarcinoma |
c.1570G>A; p.A524T; |
lung | carcinoma; adenocarcinoma |
c.4920A>C; p.T1640T; |
lung | carcinoma; adenocarcinoma |
c.4946G>T; p.R1649I; |
lung | carcinoma; adenocarcinoma |
c.2583C>T; p.F861F; |
lung | carcinoma; adenocarcinoma |
c.1122A>G; p.T374T; |
lung | carcinoma; adenocarcinoma |
c.5277+1G>A; p.?; 17:38462594-38462594 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2858G>A; p.C953Y; |
meninges | meningioma |
c.3367G>T; p.D1123Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.3042G>A; p.M1014I; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.1086G>A; p.E362E; |
breast | carcinoma |
c.5406+4dela; p.?; |
NS | NS |
c.3119G>A; p.S1040N; |
ovary | carcinoma; serous_carcinoma |
c.3336delA; p.E1112fs*5; |
liver | carcinoma |
c.1635G>A; p.V545V; |
lung | carcinoma; small_cell_carcinoma |
c.2379G>A; p.K793K; |
lung | carcinoma; small_cell_carcinoma |
c.5574C>A; p.I1858I; |
lung | carcinoma; small_cell_carcinoma |
c.66_67delAG; p.E23fs*17; 17:38529573-38529574 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2169delT; p.P724fs*12; 17:38498905-38498905 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.5456A>G; p.N1819S; |
prostate | adenoma |
c.962G>T; p.W321L; |
prostate | adenoma |
c.441+2T>G; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441+2T>G; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1344C>T; p.H448H; 17:38499730-38499730 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1344C>T; p.H448H; 17:38499730-38499730 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4612C>T; p.Q1538*; 17:38479937-38479937 |
ovary | carcinoma; serous_carcinoma |
c.4049G>C; p.G1350A; |
lung | carcinoma; adenocarcinoma |
c.2004C>T; p.L668L; |
lung | carcinoma; adenocarcinoma |
c.441+2T>G; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441+2T>G; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441+2T>A; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441+2T>A; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441+2T>A; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441+2T>G; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441+2T>G; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.5503C>T; p.R1835*; 17:38451310-38451310 |
ovary | carcinoma; serous_carcinoma |
c.404A>G; p.K135R; |
ovary | carcinoma; serous_carcinoma |
c.4484+1delG; p.?; 17:38482030-38482030 |
ovary | carcinoma; serous_carcinoma |
c.141C>G; p.C47W; 17:38512070-38512070 |
ovary | carcinoma; serous_carcinoma |
c.3794_3795insAA; p.N1265fs*4; 17:38497279-38497280 |
ovary | carcinoma; serous_carcinoma |
c.1574T>C; p.V525A; |
lung | carcinoma; squamous_cell_carcinoma |
c.280C>T; p.Q94*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1227A>T; p.V409V; |
lung | carcinoma; squamous_cell_carcinoma |
c.959G>C; p.R320T; |
lung | carcinoma; squamous_cell_carcinoma |
c.4993G>T; p.V1665L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2438delG; p.G813fs*2; |
ovary | carcinoma; serous_carcinoma |
c.3465_3466insTGTTAGAT; p.D1156fs*2; |
ovary | carcinoma; serous_carcinoma |
c.331G>T; p.E111*; |
ovary | carcinoma; serous_carcinoma |
c.5129delG; p.G1710fs*4; 17:38469440-38469440 |
ovary | carcinoma; serous_carcinoma |
c.346G>T; p.E116*; 17:38509760-38509760 |
ovary | carcinoma; serous_carcinoma |
c.1557delG; p.A521fs*11; |
ovary | carcinoma; serous_carcinoma |
c.3648_3649insAGAACTTA; p.S1217fs*21; |
ovary | carcinoma; serous_carcinoma |
c.882delA; p.D295fs*3; |
ovary | carcinoma; serous_carcinoma |
c.3562_3563delAG; p.R1188fs*3; |
ovary | carcinoma; serous_carcinoma |
c.1292T>G; p.L431*; 17:38499782-38499782 |
ovary | carcinoma; serous_carcinoma |
c.2398A>T; p.K800*; |
ovary | carcinoma; serous_carcinoma |
c.2704G>C; p.E902Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.3343G>C; p.E1115Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.4030G>A; p.D1344N; |
lung | carcinoma; squamous_cell_carcinoma |
c.5278-1G>T; p.?; 17:38456661-38456661 |
ovary | carcinoma; serous_carcinoma |
c.963G>T; p.W321C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2333G>A; p.G778D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1A>G; p.M1V; |
ovary | carcinoma; serous_carcinoma |
c.5153-1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1603G>T; p.G535*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4581G>T; p.E1527D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3478A>T; p.K1160*; |
lung | carcinoma; squamous_cell_carcinoma |
c.525G>T; p.K175N; |
lung | carcinoma; adenocarcinoma |
c.4643C>T; p.T1548M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5245C>T; p.P1749S; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1254G>C; p.E418D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1421T>G; p.L474*; |
ovary | carcinoma; serous_carcinoma |
c.1544A>T; p.E515V; |
lung | carcinoma; squamous_cell_carcinoma |
c.156C>A; p.L52L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1866G>A; p.A622A; |
lung | carcinoma; adenocarcinoma |
c.427G>C; p.E143Q; |
lung | carcinoma; adenocarcinoma |
c.4265_4266GG>TT; p.G1422V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2800C>T; p.Q934*; |
breast | carcinoma |
c.25G>C; p.E9Q; |
breast | carcinoma |
c.1563A>G; p.A521A; |
breast | carcinoma |
c.80+1G>A; p.?; |
breast | carcinoma |
c.1961_1962insA; p.Y655fs*18; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1353A>G; p.S451S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.342T>C; p.S114S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1961delA; p.K654fs*47; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4302T>C; p.S1434S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3025T>C; p.S1009P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2061_2064delGACA; p.T688fs*12; |
breast | carcinoma |
c.3739G>A; p.V1247I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.346G>A; p.E116K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3774G>T; p.E1258D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4614G>A; p.Q1538Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.342T>C; p.S114S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1466A>G; p.E489G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.342T>C; p.S114S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5118A>G; p.G1706G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2719G>A; p.E907K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4508C>A; p.S1503*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.509G>A; p.R170Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2461G>T; p.D821Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5277+1G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2274G>A; p.L758L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1359G>T; p.E453D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5363G>T; p.G1788V; |
breast | carcinoma |
c.1931_1933delGTT; p.C644delC; |
breast | carcinoma |
c.1720C>A; p.L574I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.145C>A; p.L49M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3774G>T; p.E1258D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2986A>C; p.K996Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1865C>T; p.A622V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3362_3363insA; p.N1121fs*12; |
breast | carcinoma |
c.2017G>T; p.E673*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1961delA; p.K654fs*47; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5253A>G; p.R1751R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.139T>C; p.C47R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1116G>T; p.W372C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3027A>G; p.S1009S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5253A>G; p.R1751R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1382T>G; p.F461C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4791C>T; p.T1597T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4327C>T; p.R1443*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2825C>T; p.A942V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3097G>A; p.E1033K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1041G>A; p.L347L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1932T>G; p.C644W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.67delG; p.E23fs*8; |
breast | carcinoma |
c.5432A>T; p.Q1811L; |
breast | carcinoma |
c.4676-1G>A; p.?; |
breast | carcinoma |
c.5492C>T; p.P1831L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1627G>T; p.G543C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5333-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4572T>A; p.S1524S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3621G>T; p.K1207N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4208A>G; p.N1403S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2708G>C; p.C903S; |
urinary_tract; bladder | carcinoma |
c.1714G>A; p.E572K; |
urinary_tract; bladder | carcinoma |
c.4030G>C; p.D1344H; |
breast | carcinoma |
c.669G>C; p.K223N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3953T>C; p.I1318T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2069A>G; p.K690R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.171G>A; p.G57G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3025T>C; p.S1009P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3025T>C; p.S1009P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5503C>T; p.R1835*; 17:38451310-38451310 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.141C>T; p.C47C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1293A>G; p.L431L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2274G>A; p.L758L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.340T>C; p.S114P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2441T>C; p.L814P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.342T>C; p.S114S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.329delA; p.K110fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3231G>A; p.G1077G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3925_3926AA>CT; p.N1309L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3926A>T; p.N1309I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3925A>C; p.N1309H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2613G>A; p.P871P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2885A>C; p.E962A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1828A>C; p.R610R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1682C>A; p.S561Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3025T>C; p.S1009P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3420T>C; p.S1140S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1353A>G; p.S451S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3027A>G; p.S1009S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2272T>C; p.L758L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3025T>C; p.S1009P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.342T>C; p.S114S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3903T>C; p.S1301S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1337G>C; p.R446T; |
urinary_tract; bladder | carcinoma |
c.2274G>A; p.L758L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.340T>C; p.S114P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.342T>C; p.S114S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.348A>G; p.E116E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5503C>A; p.R1835R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4606G>A; p.E1536K; |
cervix | carcinoma; squamous_cell_carcinoma |
c.3080G>T; p.S1027I; |
breast | carcinoma |
c.5504G>T; p.R1835L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5505A>G; p.R1835R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2215_2216insTA; p.K739fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3420T>C; p.S1140S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3841C>T; p.Q1281*; |
urinary_tract; bladder | carcinoma |
c.5505A>G; p.R1835R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5174A>G; p.E1725G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1293A>G; p.L431L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.348A>G; p.E116E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2334C>A; p.G778G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.21C>T; p.R7R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3418A>G; p.S1140G; 17:38497656-38497656 |
breast | carcinoma; luminal_NS_carcinoma |
c.814G>A; p.E272K; |
skin | malignant_melanoma |
c.5245_5246CC>TT; p.P1749L; |
skin | malignant_melanoma |
c.4785_4790delTTCAAC; p.T1597_S1598delTS; |
skin | malignant_melanoma |
c.3059C>T; p.P1020L; |
skin | malignant_melanoma |
c.4427A>G; p.K1476R; |
stomach | adenocarcinoma |
c.3736A>G; p.T1246A; |
stomach | adenocarcinoma |
c.3310A>G; p.K1104E; |
stomach | adenocarcinoma |
c.1961delA; p.K654fs*47; |
stomach | adenocarcinoma |