| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1063 |
Name | CENPF |
Synonymous | CENF|PRO1779|hcp-1;centromere protein F, 350/400kDa (mitosin);CENPF;centromere protein F, 350/400kDa (mitosin) |
Definition | AH antigen|CENP-F kinetochore protein|cell-cycle-dependent 350K nuclear protein|centromere protein F|centromere protein F, 350/400ka (mitosin)|kinetochore protein CENPF|mitosin |
Position | 1q32-q41 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CENPF | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CENPF_I1914T; chr1; 214818654 |
SUB; MISSENSE; T; T/C; SOMATIC | RHB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.7367C>G; p.A2456G; |
liver | carcinoma; hepatocellular_carcinoma |
c.2402T>A; p.I801N; |
skin; arm | malignant_melanoma |
c.8104C>T; p.R2702W; |
lung | carcinoma; small_cell_carcinoma |
c.5832G>T; p.K1944N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4021delA; p.K1341fs*3; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1430T>C; p.L477P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1205G>A; p.R402H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.339A>T; p.K113N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8590T>C; p.Y2864H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6925C>T; p.R2309C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.793G>T; p.D265Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1287G>T; p.K429N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2845G>A; p.E949K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4333G>A; p.E1445K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5190T>A; p.N1730K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6420G>T; p.E2140D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7342A>C; p.K2448Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8576A>C; p.E2859A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9086A>C; p.K3029T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3541_3544delAGAG; p.E1182fs*21; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.3902A>G; p.N1301S; |
lung | carcinoma; small_cell_carcinoma |
c.8543A>G; p.E2848G; |
pancreas | carcinoma; acinar_carcinoma |
c.3127T>C; p.Y1043H; |
pancreas | carcinoma; acinar_carcinoma |
c.4412G>A; p.G1471E; 1:212882716-212882716 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4582T>C; p.C1528R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3439A>G; p.N1147D; |
large_intestine | carcinoma; adenocarcinoma |
c.152delA; p.K52fs*14; |
oesophagus | carcinoma; adenocarcinoma |
c.8913G>A; p.T2971T; |
oesophagus | carcinoma; adenocarcinoma |
c.6001T>C; p.C2001R; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1398G>A; p.A466A; |
stomach | carcinoma; adenocarcinoma |
c.6577G>T; p.E2193*; |
liver | carcinoma |
c.5912_5913insA; p.T1974fs*9; |
liver | carcinoma |
c.86A>C; p.K29T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.919G>T; p.E307*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5512G>T; p.E1838*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7345G>T; p.E2449*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8960A>C; p.K2987T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6336G>A; p.E2112E; |
liver | carcinoma |
c.4643G>C; p.G1548A; |
liver | carcinoma |
c.574-1G>A; p.?; |
liver | carcinoma |
c.5743G>C; p.E1915Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.7053C>A; p.N2351K; |
lung | carcinoma; adenocarcinoma |
c.4076A>G; p.E1359G; |
lung | carcinoma; adenocarcinoma |
c.1024G>T; p.E342*; |
lung | carcinoma; adenocarcinoma |
c.6286G>T; p.A2096S; |
lung | carcinoma; adenocarcinoma |
c.1330T>C; p.S444P; |
lung | carcinoma; adenocarcinoma |
c.1360G>T; p.E454*; |
lung | carcinoma; adenocarcinoma |
c.184G>A; p.G62S; |
lung | carcinoma; adenocarcinoma |
c.2973G>A; p.M991I; |
lung | carcinoma; adenocarcinoma |
c.3214G>C; p.E1072Q; |
lung | carcinoma; adenocarcinoma |
c.3682G>A; p.E1228K; |
lung | carcinoma; adenocarcinoma |
c.4944G>C; p.L1648L; |
lung | carcinoma; adenocarcinoma |
c.273A>T; p.Q91H; |
lung | carcinoma; adenocarcinoma |
c.8405G>C; p.C2802S; |
lung | carcinoma; adenocarcinoma |
c.8569G>A; p.A2857T; |
skin; trunk | malignant_melanoma |
c.4634C>T; p.P1545L; |
skin; trunk | malignant_melanoma |
c.8912C>T; p.T2971M; 1:212897325-212897325 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6380G>A; p.R2127H; 1:212885916-212885916 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6169C>G; p.Q2057E; |
NS | NS |
c.5972T>C; p.L1991P; |
breast | carcinoma |
c.625C>T; p.R209W; |
NS | NS |
c.6488T>A; p.L2163*; |
bone | chondrosarcoma |
c.3942G>A; p.K1314K; |
prostate | carcinoma |
c.6415G>A; p.A2139T; |
liver | carcinoma |
c.8358_8359GG>AT; p.K2786>?; |
lung | carcinoma; small_cell_carcinoma |
c.5076G>T; p.Q1692H; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.4478C>A; p.S1493Y; |
skin; axilla | malignant_melanoma |
c.632A>G; p.Q211R; |
kidney | carcinoma; renal_cell_carcinoma |
c.6754G>T; p.E2252*; |
endometrium | carcinoma; serous_carcinoma |
c.6736G>T; p.A2246S; |
autonomic_ganglia | neuroblastoma |
c.56A>G; p.K19R; 1:212853776-212853776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.105G>A; p.Q35Q; 1:212853825-212853825 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.7983+1G>A; p.?; 1:212888794-212888794 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.405A>T; p.A135A; |
lung | carcinoma; adenocarcinoma |
c.8752G>A; p.E2918K; |
lung | carcinoma; adenocarcinoma |
c.8566G>A; p.E2856K; |
lung | carcinoma; adenocarcinoma |
c.8233G>A; p.E2745K; |
lung | carcinoma; adenocarcinoma |
c.8080G>C; p.E2694Q; |
lung | carcinoma; adenocarcinoma |
c.6745C>A; p.Q2249K; |
lung | carcinoma; adenocarcinoma |
c.6062C>G; p.S2021C; |
lung | carcinoma; adenocarcinoma |
c.5861C>T; p.S1954L; |
lung | carcinoma; adenocarcinoma |
c.5859C>T; p.L1953L; |
lung | carcinoma; adenocarcinoma |
c.5362C>T; p.H1788Y; |
lung | carcinoma; adenocarcinoma |
c.3733C>T; p.L1245F; |
lung | carcinoma; adenocarcinoma |
c.3137C>T; p.A1046V; |
lung | carcinoma; adenocarcinoma |
c.7723A>G; p.K2575E; |
lung | carcinoma; adenocarcinoma |
c.5563G>T; p.E1855*; |
lung | carcinoma; adenocarcinoma |
c.6965A>C; p.Q2322P; |
lung | carcinoma; adenocarcinoma |
c.276C>G; p.V92V; |
lung | carcinoma; adenocarcinoma |
c.3841A>G; p.T1281A; 1:212882145-212882145 |
ovary | carcinoma; serous_carcinoma |
c.1621C>T; p.Q541*; 1:212879925-212879925 |
ovary | carcinoma; serous_carcinoma |
c.7587T>G; p.N2529K; 1:212887123-212887123 |
ovary | carcinoma; serous_carcinoma |
c.918A>G; p.K306K; 1:212862097-212862097 |
ovary | carcinoma; serous_carcinoma |
c.3898C>T; p.L1300L; 1:212882202-212882202 |
ovary | carcinoma; serous_carcinoma |
c.5965C>G; p.Q1989E; 1:212885501-212885501 |
ovary | carcinoma; serous_carcinoma |
c.3541_3544delAGAG; p.E1182fs*21; |
ovary | carcinoma; serous_carcinoma |
c.1866G>A; p.W622*; |
ovary | carcinoma; serous_carcinoma |
c.1922A>G; p.Q641R; |
lung | carcinoma; squamous_cell_carcinoma |
c.5065G>T; p.D1689Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1543T>G; p.C515G; |
lung | carcinoma; squamous_cell_carcinoma |
c.5952G>A; p.M1984I; |
lung | carcinoma; adenocarcinoma |
c.4281G>A; p.Q1427Q; |
lung | carcinoma; adenocarcinoma |
c.285A>G; p.S95S; |
lung | carcinoma; adenocarcinoma |
c.2535G>T; p.M845I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.9142-1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4600G>T; p.E1534*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1446+1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1113G>C; p.L371F; |
lung | carcinoma; adenocarcinoma |
c.8548C>T; p.L2850F; |
lung | carcinoma; adenocarcinoma |
c.4408G>C; p.E1470Q; |
lung | carcinoma; adenocarcinoma |
c.4397T>C; p.L1466P; |
lung | carcinoma; adenocarcinoma |
c.3694G>T; p.E1232*; |
lung | carcinoma; adenocarcinoma |
c.1923G>C; p.Q641H; |
lung | carcinoma; adenocarcinoma |
c.4541G>T; p.G1514V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4541G>T; p.G1514V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.105G>A; p.Q35Q; 1:212853825-212853825 |
lung | carcinoma; adenocarcinoma |
c.2177C>G; p.S726C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.52C>T; p.Q18*; |
lung | carcinoma; squamous_cell_carcinoma |
c.8218A>T; p.S2740C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2185A>T; p.T729S; |
ovary | carcinoma; serous_carcinoma |
c.8638A>G; p.M2880V; |
lung | carcinoma; squamous_cell_carcinoma |
c.5695G>C; p.D1899H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5588C>T; p.S1863F; |
lung | carcinoma; squamous_cell_carcinoma |
c.6442G>T; p.E2148*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7144G>A; p.G2382S; |
lung | carcinoma; adenocarcinoma |
c.7657G>A; p.E2553K; |
lung | carcinoma; adenocarcinoma |
c.5281G>C; p.D1761H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5106C>G; p.L1702L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.8502C>T; p.T2834T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5100G>T; p.Q1700H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9069C>T; p.S3023S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2636C>A; p.A879D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7924G>T; p.E2642*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4935A>G; p.L1645L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1308G>C; p.Q436H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8358G>A; p.K2786K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5931_5932GG>TT; p.D1978Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4757A>T; p.Q1586L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2890C>T; p.L964L; |
breast | carcinoma |
c.3147G>T; p.K1049N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8862_8863insA; p.S2957fs*19; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.143T>C; p.L48P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6599T>C; p.V2200A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5913delA; p.T1974fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5912_5913insA; p.T1974fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.916A>G; p.K306E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3250G>T; p.E1084*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8429A>T; p.E2810V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.440A>C; p.K147T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1623A>G; p.Q541Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.103C>A; p.Q35K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6613C>T; p.L2205F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.627G>A; p.R209R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.437delA; p.I148fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5477T>C; p.I1826T; |
large_intestine; colon | NS |
c.4638G>A; p.A1546A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8412G>A; p.Q2804Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3147G>T; p.K1049N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4227G>T; p.E1409D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8124G>T; p.K2708N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6380G>A; p.R2127H; 1:212885916-212885916 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.716G>A; p.R239K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6121G>A; p.E2041K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7807G>A; p.D2603N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8912C>T; p.T2971M; 1:212897325-212897325 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3590A>C; p.E1197A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3810A>G; p.E1270E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4704G>T; p.E1568D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4833G>T; p.Q1611H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5886G>A; p.Q1962Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7502C>A; p.S2501Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8857T>C; p.F2953L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3298A>G; p.M1100V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6895C>G; p.L2299V; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.4344C>A; p.V1448V; |
breast | carcinoma |
c.3841A>G; p.T1281A; 1:212882145-212882145 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1622A>G; p.Q541R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3841A>G; p.T1281A; 1:212882145-212882145 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8085A>G; p.E2695E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3124A>C; p.K1042Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8260G>T; p.E2754*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8576A>G; p.E2859G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8673G>A; p.Q2891Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5126T>C; p.I1709T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2721G>T; p.E907D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3906G>T; p.E1302D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4638G>A; p.A1546A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8542G>T; p.E2848*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9131G>T; p.R3044I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.918A>G; p.K306K; 1:212862097-212862097 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5144T>C; p.V1715A; |
breast | carcinoma |
c.805A>G; p.S269G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1214G>A; p.R405H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3319C>T; p.Q1107*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5931G>T; p.L1977L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8003C>T; p.T2668I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8692C>T; p.R2898*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.380G>T; p.R127I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.505G>T; p.E169*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.701G>T; p.R234I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2275G>A; p.E759K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2742A>G; p.Q914Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2869G>A; p.E957K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2941G>A; p.E981K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4513G>T; p.D1505Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6757G>T; p.E2253*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.522G>A; p.E174E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.222A>C; p.E74D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1104G>A; p.T368T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3083G>T; p.R1028I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5911T>A; p.S1971T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6364G>A; p.E2122K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7288G>T; p.V2430L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1246C>A; p.Q416K; |
breast | carcinoma |
c.4487A>G; p.Y1496C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4874C>T; p.A1625V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3867T>C; p.L1289L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1776G>T; p.E592D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2345G>T; p.R782I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4361G>T; p.R1454I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5733A>C; p.K1911N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.396G>A; p.A132A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1464C>T; p.N488N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6926G>A; p.R2309H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4030A>C; p.N1344H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8863delA; p.S2957fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.918A>G; p.K306K; 1:212862097-212862097 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.918A>G; p.K306K; 1:212862097-212862097 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3843A>G; p.T1281T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1088A>T; p.K363I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8104C>T; p.R2702W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8613T>C; p.H2871H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.454C>A; p.P152T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1734A>C; p.E578D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2593G>T; p.E865*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3412G>A; p.E1138K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.128G>T; p.S43I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5521G>T; p.D1841Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5896G>T; p.E1966*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7080G>T; p.E2360D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.701G>T; p.R234I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6192G>A; p.E2064E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6492G>A; p.Q2164Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8124G>C; p.K2708N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7284G>T; p.E2428D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6587G>A; p.R2196K; |
breast | carcinoma |
c.6738A>G; p.A2246A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.798T>C; p.A266A; |
breast | carcinoma |
c.8749A>T; p.T2917S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6786G>A; p.Q2262Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1999A>C; p.T667P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5416G>T; p.E1806*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.255G>T; p.K85N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3653G>T; p.R1218I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.990T>C; p.I330I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3268G>T; p.A1090S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8149_8152delACAA; p.K2719fs*4; |
endometrium | carcinoma; endometrioid_carcinoma |
c.133G>A; p.E45K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5793G>T; p.E1931D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2883C>T; p.I961I; |
urinary_tract; bladder | carcinoma |
c.3946G>A; p.E1316K; |
breast | carcinoma |
c.349G>A; p.E117K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2334A>C; p.E778D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5879G>T; p.R1960I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3842C>T; p.T1281I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8222C>T; p.S2741L; |
urinary_tract; bladder | carcinoma |
c.5978C>G; p.S1993C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5653A>T; p.N1885Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.918A>G; p.K306K; 1:212862097-212862097 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.916A>G; p.K306E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5021C>T; p.S1674L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.916A>G; p.K306E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1987G>A; p.E663K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3842C>T; p.T1281I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2885T>G; p.I962S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6310G>A; p.A2104T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.104A>G; p.Q35R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.773C>T; p.T258I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3317T>C; p.V1106A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4704G>C; p.E1568D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4490G>T; p.R1497I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5778G>A; p.E1926E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8035G>A; p.D2679N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.918A>G; p.K306K; 1:212862097-212862097 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7585A>G; p.N2529D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.104A>G; p.Q35R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.104A>G; p.Q35R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.918A>G; p.K306K; 1:212862097-212862097 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8963-2A>G; p.?; |
breast | carcinoma |
c.686C>T; p.S229L; |
urinary_tract; bladder | carcinoma |
c.3321G>A; p.Q1107Q; |
urinary_tract; bladder | carcinoma |
c.5967A>G; p.Q1989Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.104A>G; p.Q35R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.33G>A; p.G11G; |
breast | carcinoma |
c.2890C>T; p.L964L; |
breast | carcinoma |
c.7186A>G; p.N2396D; |
breast | carcinoma |
c.2973G>A; p.M991I; |
breast | carcinoma |
c.916A>G; p.K306E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5912_5913insA; p.T1974fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8863delA; p.S2957fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1622A>G; p.Q541R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.284_285delCA; p.Q96fs*23; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8450C>G; p.S2817C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.56A>G; p.K19R; 1:212853776-212853776 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.57A>G; p.K19K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1128A>C; p.Q376H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3040T>C; p.L1014L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7104C>A; p.T2368T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7580T>C; p.L2527P; |
urinary_tract; bladder | carcinoma |
c.3049C>T; p.Q1017*; |
urinary_tract; bladder | carcinoma |
c.1254G>A; p.K418K; |
prostate | carcinoma |
c.4352C>T; p.T1451M; |
prostate | carcinoma |
c.485C>T; p.S162F; |
skin | malignant_melanoma |
c.8452C>T; p.Q2818*; |
skin | malignant_melanoma |
c.982G>A; p.E328K; |
skin | malignant_melanoma |
c.8092G>T; p.E2698*; |
skin | malignant_melanoma |
c.1112T>G; p.L371W; |
skin | malignant_melanoma |
c.9295C>T; p.P3099S; |
skin; hand | carcinoma; squamous_cell_carcinoma |
c.7396G>A; p.A2466T; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.4657G>A; p.E1553K; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.5470G>A; p.A1824T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |