| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2157 |
Name | F8 |
Synonymous | AHF|DXS1253E|F8B|F8C|FVIII|HEMA;coagulation factor VIII, procoagulant component;F8;coagulation factor VIII, procoagulant component |
Definition | antihemophilic factor|coagulation factor VIII|coagulation factor VIIIc|factor VIII F8B |
Position | Xq28 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for F8 | ||
PCGP somatic mutation [Top] | ||
There is no record for F8 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.3009G>T; p.L1003F; |
lung | carcinoma; small_cell_carcinoma |
c.1272-2A>G; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.5999-2A>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.6496C>T; p.R2166*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5812C>A; p.H1938N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4864G>A; p.A1622T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2842delC; p.T949fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6496C>T; p.R2166*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3931G>A; p.A1311T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5950G>A; p.V1984I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6266G>T; p.W2089L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6421A>G; p.T2141A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4652C>T; p.A1551V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2761A>C; p.S921R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1094A>G; p.Y365C; |
pancreas | carcinoma |
c.4379_4380insA; p.N1460fs*2; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.4348A>G; p.S1450G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1745G>A; p.G582E; 23:153838433-153838433 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.4208A>G; p.N1403S; |
liver | carcinoma |
c.6532C>T; p.R2178C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5465_5466insA; p.N1824fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4359C>T; p.F1453F; 23:153810900-153810900 |
skin | malignant_melanoma |
c.2936G>T; p.W979L; |
NS | NS |
c.2116C>A; p.L706I; |
haematopoietic_and_lymphoid_tissue; tonsil | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2779A>G; p.S927G; |
oesophagus | carcinoma; adenocarcinoma |
c.3747G>A; p.L1249L; |
oesophagus | carcinoma; adenocarcinoma |
c.1421G>T; p.G474V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.6433T>C; p.F2145L; |
oesophagus | carcinoma; adenocarcinoma |
c.1910A>G; p.N637S; |
oesophagus | carcinoma; adenocarcinoma |
c.6833A>T; p.E2278V; |
oesophagus | carcinoma; adenocarcinoma |
c.3637delA; p.I1213fs*5; |
oesophagus | carcinoma; adenocarcinoma |
c.323A>C; p.K108T; |
oesophagus | carcinoma; adenocarcinoma |
c.1181C>A; p.A394D; |
liver | carcinoma; hepatocellular_carcinoma |
c.6793C>G; p.Q2265E; |
liver | carcinoma |
c.5264A>T; p.Q1755L; |
liver | carcinoma; hepatocellular_carcinoma |
c.6532C>T; p.R2178C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5878C>T; p.R1960*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5684T>G; p.F1895C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3785C>A; p.A1262E; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.4034A>T; p.E1345V; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1263C>G; p.P421P; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.4836G>T; p.K1612N; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2440C>T; p.R814*; 23:153812819-153812819 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1094A>G; p.Y365C; |
pancreas | carcinoma; ductal_carcinoma |
c.6883C>T; p.Q2295*; |
skin; trunk | malignant_melanoma; nodular |
c.1652A>C; p.Y551S; |
lung | carcinoma; adenocarcinoma |
c.578G>A; p.G193E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.5058C>T; p.T1686T; |
lung | carcinoma; adenocarcinoma |
c.4156C>T; p.Q1386*; |
lung | carcinoma; adenocarcinoma |
c.4167delA; p.L1389fs*35; |
lung | carcinoma; adenocarcinoma |
c.4379_4380insA; p.N1460fs*2; |
lung | carcinoma; adenocarcinoma |
c.5461C>A; p.P1821T; |
lung | carcinoma; adenocarcinoma |
c.3124G>A; p.E1042K; |
lung | carcinoma; adenocarcinoma |
c.3959delC; p.T1320fs*15; |
lung | carcinoma; adenocarcinoma |
c.2395C>T; p.P799S; |
lung | carcinoma; adenocarcinoma |
c.3793C>G; p.P1265A; |
lung | carcinoma; adenocarcinoma |
c.901C>A; p.R301S; |
lung | carcinoma; adenocarcinoma |
c.1182C>T; p.A394A; |
lung | carcinoma; adenocarcinoma |
c.6680C>A; p.A2227D; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.5626G>A; p.V1876I; |
skin; trunk | malignant_melanoma |
c.426A>T; p.K142N; |
NS | malignant_melanoma |
c.6620C>A; p.A2207E; 23:153743290-153743290 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2167G>A; p.A723T; |
ovary | carcinoma |
c.6628A>G; p.T2210A; |
pancreas | carcinoma; ductal_carcinoma |
c.4379delA; p.N1460fs*5; |
breast | carcinoma |
c.1390G>A; p.E464K; |
breast | carcinoma |
c.6544C>T; p.R2182C; |
bone | chondrosarcoma |
c.3981G>A; p.T1327T; |
prostate | carcinoma |
c.1310G>A; p.R437Q; |
pancreas | NS |
c.4387T>C; p.S1463P; |
pancreas | NS |
c.6127C>A; p.P2043T; |
liver | carcinoma |
c.6901-2A>G; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.6197C>T; p.A2066V; |
lung | carcinoma; small_cell_carcinoma |
c.4615C>G; p.L1539V; |
lung | carcinoma; small_cell_carcinoma |
c.6816delC; p.S2273fs*4; |
lung | carcinoma; small_cell_carcinoma |
c.6902T>G; p.V2301G; |
lung | carcinoma; small_cell_carcinoma |
c.1380T>G; p.A460A; |
prostate | adenoma |
c.5143C>T; p.R1715*; 23:153810116-153810116 |
ovary | carcinoma; serous_carcinoma |
c.383C>T; p.S128F; |
lung | carcinoma; adenocarcinoma |
c.6956C>G; p.P2319R; |
lung | carcinoma; adenocarcinoma |
c.4743G>T; p.L1581F; |
lung | carcinoma; adenocarcinoma |
c.6225C>T; p.S2075S; |
lung | carcinoma; adenocarcinoma |
c.6679G>C; p.A2227P; 23:153743231-153743231 |
ovary | carcinoma; serous_carcinoma |
c.3980C>T; p.T1327M; |
ovary | carcinoma; serous_carcinoma |
c.1538-1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1816C>A; p.L606I; |
lung | carcinoma; squamous_cell_carcinoma |
c.5344A>G; p.I1782V; |
lung | carcinoma; squamous_cell_carcinoma |
c.4999C>T; p.R1667W; |
lung | carcinoma; squamous_cell_carcinoma |
c.4455C>A; p.A1485A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1758G>T; p.M586I; |
lung | carcinoma; squamous_cell_carcinoma |
c.5586G>T; p.L1862L; 23:153786280-153786280 |
ovary | carcinoma; serous_carcinoma |
c.1730C>A; p.S577Y; 23:153838448-153838448 |
ovary | carcinoma; serous_carcinoma |
c.259T>A; p.W87R; 23:153880954-153880954 |
ovary | carcinoma; serous_carcinoma |
c.5221G>A; p.A1741T; |
ovary | carcinoma; serous_carcinoma |
c.1814A>T; p.Y605F; |
lung | carcinoma; squamous_cell_carcinoma |
c.4996C>T; p.Q1666*; |
lung | carcinoma; adenocarcinoma |
c.4630C>A; p.L1544I; |
lung | carcinoma; adenocarcinoma |
c.6998T>A; p.V2333E; |
lung | carcinoma; adenocarcinoma |
c.3461A>G; p.E1154G; |
lung | carcinoma; adenocarcinoma |
c.155G>C; p.R52T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4271C>A; p.T1424N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4123G>C; p.D1375H; |
lung | carcinoma; adenocarcinoma |
c.4975C>A; p.P1659T; |
lung | carcinoma; adenocarcinoma |
c.1798G>T; p.E600*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4930A>T; p.T1644S; |
lung | carcinoma; adenocarcinoma |
c.1090G>C; p.D364H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3944G>A; p.R1315K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2999C>T; p.P1000L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.904C>A; p.Q302K; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.503C>T; p.S168F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.792G>C; p.L264L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.6563G>A; p.C2188Y; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3793C>A; p.P1265T; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.3098A>T; p.H1033L; |
lung | carcinoma; squamous_cell_carcinoma |
c.5568T>G; p.Y1856*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2952G>A; p.S984S; |
lung | carcinoma; adenocarcinoma |
c.1635T>A; p.P545P; |
lung | carcinoma; squamous_cell_carcinoma |
c.121G>T; p.G41C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2611G>C; p.E871Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.3672C>A; p.I1224I; |
lung | carcinoma; adenocarcinoma |
c.5488G>A; p.E1830K; |
lung | carcinoma; adenocarcinoma |
c.4856C>A; p.S1619Y; |
lung | carcinoma; adenocarcinoma |
c.6457G>T; p.G2153W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3371C>A; p.S1124*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4331A>G; p.D1444G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4468A>T; p.T1490S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.346A>C; p.S116R; |
lung | carcinoma; adenocarcinoma |
c.3433C>A; p.P1145T; |
lung | carcinoma; adenocarcinoma |
c.6852T>A; p.S2284R; |
lung | carcinoma; adenocarcinoma |
c.37C>T; p.L13F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.277C>A; p.P93T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3375A>C; p.A1125A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4699A>T; p.R1567*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6230C>A; p.S2077*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1463C>A; p.A488E; |
lung | carcinoma; squamous_cell_carcinoma |
c.2365G>A; p.D789N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5717A>G; p.K1906R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3898G>T; p.G1300*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6051G>A; p.V2017V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3078A>G; p.S1026S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.6848G>A; p.S2283N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.435T>C; p.D145D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3870_3871insA; p.G1291fs*29; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1729T>C; p.S577P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2550G>T; p.L850L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6621A>G; p.A2207A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4149C>A; p.A1383A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3637delA; p.I1213fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2670G>A; p.L890L; |
breast | carcinoma |
c.2258A>G; p.N753S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4379delA; p.N1460fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4379delA; p.N1460fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6497G>A; p.R2166Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6846C>A; p.S2282S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3678G>T; p.E1226D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2441G>A; p.R814Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.20C>T; p.T7I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3540A>T; p.V1180V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.560T>C; p.L187S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4379delA; p.N1460fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4738C>G; p.L1580V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2790T>G; p.V930V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2183C>A; p.S728Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.687A>G; p.S229S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5804A>G; p.Y1935C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.743C>A; p.P248H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.267T>C; p.G89G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5593G>T; p.D1865Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2099C>T; p.S700L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2440C>T; p.R814*; 23:153812819-153812819 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6806C>A; p.S2269Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3391A>G; p.T1131A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.621G>T; p.K207N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2440C>T; p.R814*; 23:153812819-153812819 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3870delA; p.E1292fs*16; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4379delA; p.N1460fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6616G>A; p.D2206N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5388T>C; p.N1796N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1157C>T; p.S386F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4103C>A; p.P1368Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2951C>T; p.S984L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3709A>G; p.T1237A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4716C>T; p.S1572S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2673G>T; p.K891N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6806C>A; p.S2269Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3342G>A; p.S1114S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6214C>T; p.L2072F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2620C>A; p.L874I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1987G>T; p.A663S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.493C>T; p.P165S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6294G>T; p.M2098I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5712G>A; p.E1904E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4696C>A; p.L1566M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2297G>T; p.R766I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1730C>A; p.S577Y; 23:153838448-153838448 |
endometrium | carcinoma; endometrioid_carcinoma |
c.5228G>T; p.S1743I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1836C>A; p.R612R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.50G>A; p.C17Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5808C>A; p.R1936R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4103C>T; p.P1368L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3407C>A; p.S1136Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3275A>G; p.N1092S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2951C>T; p.S984L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1272-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2170T>C; p.L724L; |
breast | carcinoma |
c.1401C>G; p.I467M; |
breast | carcinoma |
c.3632A>C; p.K1211T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1665C>T; p.F555F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.539A>G; p.H180R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.375G>T; p.W125C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1241A>G; p.Y414C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4939A>G; p.K1647E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4358T>C; p.F1453S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1731T>C; p.S577S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1115C>T; p.S372F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6163C>T; p.Q2055*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3745C>T; p.L1249L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6226G>A; p.G2076R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4257A>G; p.R1419R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5806C>T; p.R1936C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5011C>T; p.R1671C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3486C>A; p.F1162L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3389G>T; p.R1130M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2951C>T; p.S984L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2338A>C; p.I780L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2149C>T; p.R717W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5844A>G; p.L1948L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2046C>T; p.V682V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1116T>C; p.S372S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1665C>T; p.F555F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1658C>G; p.S553C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6528C>T; p.S2176S; |
breast | carcinoma |
c.6743G>T; p.W2248L; |
breast | carcinoma |
c.1338A>T; p.R446R; |
breast | carcinoma |
c.1834C>T; p.R612C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6383G>C; p.G2128A; |
urinary_tract; bladder | carcinoma |
c.4385T>A; p.L1462H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6058C>T; p.L2020F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1216G>T; p.A406S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5136G>T; p.K1712N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4044A>C; p.K1348N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3846A>G; p.K1282K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3327A>C; p.Q1109H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1780C>A; p.L594M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1730C>T; p.S577F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1090G>T; p.D364Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4735A>G; p.K1579E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3408T>C; p.S1136S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1665C>T; p.F555F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.167C>A; p.S56Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4201C>G; p.Q1401E; |
urinary_tract; bladder | carcinoma |
c.4337G>A; p.G1446E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5585T>C; p.L1862P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2442A>G; p.R814R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.259T>C; p.W87R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3389G>T; p.R1130M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6424T>G; p.L2142V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4983C>A; p.V1661V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5586G>A; p.L1862L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4379delA; p.N1460fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5586G>A; p.L1862L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6621A>G; p.A2207A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4983C>A; p.V1661V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5145A>G; p.R1715R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5145A>G; p.R1715R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6621A>G; p.A2207A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.261G>A; p.W87*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5145A>G; p.R1715R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1476T>C; p.Y492Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4770T>G; p.Y1590*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4123G>T; p.D1375Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2895G>T; p.K965N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2915T>C; p.M972T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4906C>T; p.Q1636*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3652G>T; p.E1218*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1171C>T; p.R391C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3660G>T; p.K1220N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1779C>T; p.I593I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6726G>T; p.V2242V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6544C>T; p.R2182C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5703C>A; p.I1901I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1726G>T; p.E576*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1217C>G; p.A406G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2442A>T; p.R814R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3538G>A; p.V1180I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6382G>T; p.G2128W; |
breast | carcinoma |
c.5404T>G; p.Y1802D; |
breast | carcinoma |
c.1800G>A; p.E600E; |
breast | carcinoma |
c.2335A>G; p.T779A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.886C>T; p.L296F; |
urinary_tract; bladder | carcinoma |
c.1087G>C; p.E363Q; |
urinary_tract; bladder | carcinoma |
c.260G>A; p.W87*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3637delA; p.I1213fs*5; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2121G>A; p.W707*; |
breast | carcinoma |
c.5550C>G; p.D1850E; |
breast | carcinoma |
c.5512G>T; p.V1838L; |
breast | carcinoma |
c.4358T>C; p.F1453S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2442A>G; p.R814R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4171G>T; p.D1391Y; |
urinary_tract; bladder | carcinoma |
c.1557T>C; p.D519D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6923C>A; p.S2308Y; |
cervix | carcinoma; squamous_cell_carcinoma |
c.6681T>C; p.A2227A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3249G>A; p.M1083I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5961_5962insA; p.E1988fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4379delA; p.N1460fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5145A>G; p.R1715R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1951C>T; p.H651Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1893C>T; p.N631N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.260G>A; p.W87*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.214G>C; p.E72Q; |
urinary_tract; bladder | carcinoma |
c.6418G>A; p.G2140R; |
skin | malignant_melanoma |
c.5954G>A; p.R1985Q; |
skin | malignant_melanoma |
c.5954G>A; p.R1985Q; |
skin | malignant_melanoma |
c.1231G>A; p.D411N; |
skin | malignant_melanoma |
c.6016G>A; p.E2006K; |
skin | malignant_melanoma |
c.1397G>A; p.G466E; |
skin | malignant_melanoma |
c.2121G>A; p.W707*; |
skin | malignant_melanoma |
c.1354G>A; p.D452N; |
skin; trunk | malignant_melanoma |
c.3562C>T; p.P1188S; |
skin; neck | malignant_melanoma |
c.6674C>T; p.S2225L; |
skin; mucosal | malignant_melanoma |
c.3542G>A; p.G1181E; |
skin; mucosal | malignant_melanoma |
c.4690C>T; p.P1564S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.3407C>T; p.S1136F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.3870delA; p.E1292fs*16; |
stomach | adenocarcinoma |
c.4379delA; p.N1460fs*5; |
stomach | adenocarcinoma |