| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 675 |
Name | BRCA2 |
Synonymous | BRCC2|BROVCA2|FACD|FAD|FAD1|FANCB|FANCD|FANCD1|GLM3|PNCA2;breast cancer 2, early onset;BRCA2;breast cancer 2, early onset |
Definition | BRCA1/BRCA2-containing complex, subunit 2|breast and ovarian cancer susceptibility gene, early onset|breast cancer 2 tumor suppressor|breast cancer susceptibility protein BRCA2|breast cancer type 2 susceptibility protein|fanconi anemia group D1 protein |
Position | 13q12.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BRCA2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
BRCA2_P773T; chr13; 32910809 |
SUB; MISSENSE; C; C/A; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
BRCA2_D23_E2splice_region; chr13; 32890669 |
DEL; SPLICE_REGION; T; T/-; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.9992T>C; p.I3331T; |
liver | carcinoma; hepatocellular_carcinoma |
c.3191C>A; p.S1064*; |
liver | carcinoma; hepatocellular_carcinoma |
c.2344C>A; p.L782I; |
liver | carcinoma; hepatocellular_carcinoma |
c.9487delA; p.N3164fs*53; |
large_intestine | carcinoma; adenocarcinoma |
c.1408G>C; p.E470Q; |
ovary | other; neoplasm |
c.1813_1814insA; p.I605fs*11; 13:31805428-31805429 |
ovary | carcinoma; serous_carcinoma |
c.8360G>A; p.R2787H; 13:31842567-31842567 |
ovary | carcinoma; mixed_carcinoma |
c.631+?delTTGAGA; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.7243C>A; p.H2415N; 13:31827233-31827233 |
breast | carcinoma |
c.4092_4093delAT; p.I1364fs*3; 13:31810584-31810585 |
endometrium | carcinoma |
c.68-7delt; p.?; 13:31791207-31791207 |
endometrium | carcinoma |
c.68-7delt; p.?; 13:31791207-31791207 |
endometrium | carcinoma |
c.68-7delt; p.?; 13:31791207-31791207 |
endometrium | carcinoma |
c.68-7delt; p.?; 13:31791207-31791207 |
endometrium | carcinoma |
c.5350_5351insA; p.N1784fs*3; 13:31811842-31811843 |
endometrium | carcinoma |
c.5046T>C; p.S1682S; 13:31811538-31811538 |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.4014C>T; p.G1338G; 13:31810506-31810506 |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.5962G>A; p.V1988I; 13:31812454-31812454 |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.8524C>T; p.R2842C; 13:31843129-31843129 |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.75_76insCCAATGA; p.I27fs*6; 13:31791221-31791222 |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.5555delT; p.C1853fs*10; 13:31812047-31812047 |
ovary | carcinoma; serous_carcinoma |
c.1217delC; p.Q407fs*23; 13:31804832-31804832 |
ovary | carcinoma; clear_cell_carcinoma |
c.?; p.E880*; |
ovary | carcinoma; clear_cell_carcinoma |
c.4058_4065delAAACGGAC; p.E1353fs*5; 13:31810550-31810557 |
ovary | carcinoma; serous_carcinoma |
c.9285C>A; p.D3095E; 13:31866854-31866854 |
breast | carcinoma; ductal_carcinoma |
c.2654delA; p.D885fs*10; 13:31809146-31809146 |
breast | carcinoma; ductal_carcinoma |
c.8832C>A; p.I2944I; |
lung | carcinoma; undifferentiated_carcinoma |
c.632-2A>G; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.4993G>C; p.E1665Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.6728C>G; p.S2243C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2808_2811delACAA; p.A938fs*21; 13:31809300-31809303 |
ovary | carcinoma |
c.8034G>T; p.R2678S; 13:31835373-31835373 |
lung | carcinoma; adenocarcinoma |
c.205C>T; p.P69S; |
skin; ear | malignant_melanoma |
c.6010G>C; p.E2004Q; 13:31812502-31812502 |
lung | carcinoma; adenocarcinoma |
c.?; p.S1982fs*22; |
ovary | carcinoma; undifferentiated_carcinoma |
c.?; p.A938fs*21; |
ovary | carcinoma; serous_carcinoma |
c.?; p.E1493fs*10; |
ovary | carcinoma; serous_carcinoma |
c.476-1G>A; p.?; |
ovary | carcinoma; serous_carcinoma |
c.4357A>T; p.K1453*; |
ovary | carcinoma; serous_carcinoma |
c.4540G>T; p.E1514*; |
ovary | carcinoma; serous_carcinoma |
c.4945A>T; p.K1649*; |
ovary | carcinoma; serous_carcinoma |
c.?; p.N1784fs*7; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.10070C>G; p.T3357R; 13:31870720-31870720 |
breast | carcinoma |
c.8941G>A; p.E2981K; |
skin; upper_arm | malignant_melanoma |
c.3043A>G; p.K1015E; |
liver | carcinoma; hepatocellular_carcinoma |
c.1967C>G; p.T656S; |
liver | carcinoma; hepatocellular_carcinoma |
c.1063G>C; p.V355L; 13:31804678-31804678 |
lung | carcinoma |
c.9309A>G; p.I3103M; 13:31866878-31866878 |
skin | malignant_melanoma |
c.1889C>T; p.T630I; 13:31805504-31805504 |
ovary | carcinoma |
c.8686C>T; p.R2896C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5660C>T; p.T1887M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5519G>T; p.G1840V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4370T>C; p.L1457S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2102T>G; p.F701C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2851C>A; p.L951I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2867A>C; p.K956T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9995C>A; p.S3332Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5125G>T; p.D1709Y; |
endometrium | carcinoma; serous_carcinoma |
c.3638delA; p.V1214fs*14; 13:31810130-31810130 |
ovary | carcinoma |
c.9248_9256+7del16; p.?; 13:31852274-31852289 |
ovary | carcinoma |
c.1437C>G; p.D479E; |
pancreas | carcinoma; acinar_carcinoma |
c.1988T>C; p.F663S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3539A>G; p.K1180R; |
liver | carcinoma |
c.7017G>A; p.K2339K; |
liver | carcinoma |
c.552A>G; p.L184L; |
liver | carcinoma |
c.5946delT; p.S1982fs*22; 13:31812438-31812438 |
pancreas | carcinoma; adenocarcinoma |
c.2546T>C; p.V849A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.9966G>T; p.M3322I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1689G>C; p.W563C; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.9632C>A; p.T3211K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4599A>C; p.K1533N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7670C>T; p.A2557V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.6803G>A; p.R2268K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.6552G>A; p.Q2184Q; |
oesophagus | carcinoma; adenocarcinoma |
c.3262C>T; p.P1088S; |
oesophagus | carcinoma; adenocarcinoma |
c.7402G>A; p.V2468I; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.4219G>C; p.E1407Q; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1075G>C; p.E359Q; |
lung | carcinoma; adenocarcinoma |
c.4777G>T; p.E1593*; 13:31811269-31811269 |
breast | carcinoma; ductal_carcinoma |
c.4777G>T; p.E1593*; 13:31811269-31811269 |
breast | carcinoma; ductal_carcinoma |
c.4550_4559del10; p.K1517fs*23; 13:31811042-31811051 |
breast | carcinoma; ductal_carcinoma |
c.8753A>G; p.E2918G; |
liver | carcinoma; hepatocellular_carcinoma |
c.10024G>A; p.E3342K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.862C>T; p.P288S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6698C>T; p.A2233V; |
liver | carcinoma |
c.1460C>T; p.A487V; |
large_intestine; colon | carcinoma |
c.3599_3600delGT; p.C1200fs*1; 13:31810091-31810092 |
large_intestine; colon | carcinoma |
c.3515C>T; p.S1172L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.8652T>A; p.Y2884*; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.6475C>T; p.Q2159*; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.3670G>A; p.G1224S; |
skin; trunk | malignant_melanoma; nodular |
c.6215C>T; p.S2072F; |
skin; trunk | malignant_melanoma; nodular |
c.9801G>A; p.K3267K; |
skin; trunk | malignant_melanoma; nodular |
c.2203G>T; p.A735S; |
lung | carcinoma; adenocarcinoma |
c.2621C>T; p.T874I; |
lung | carcinoma; adenocarcinoma |
c.4273G>C; p.D1425H; |
lung | carcinoma; adenocarcinoma |
c.2221G>T; p.V741L; |
lung | carcinoma; adenocarcinoma |
c.7260A>G; p.E2420E; |
lung | carcinoma; adenocarcinoma |
c.3803C>A; p.S1268Y; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1405G>A; p.D469N; |
skin; trunk | malignant_melanoma |
c.5808G>A; p.M1936I; |
skin; trunk | malignant_melanoma |
c.5249C>T; p.S1750F; |
skin; trunk | malignant_melanoma |
c.6800C>T; p.S2267L; |
NS | malignant_melanoma |
c.4208C>G; p.T1403S; |
NS | malignant_melanoma |
c.6596C>G; p.T2199S; |
NS | malignant_melanoma |
c.7595C>T; p.P2532L; |
skin; trunk | malignant_melanoma |
c.8051A>T; p.K2684I; |
pancreas | carcinoma; ductal_carcinoma |
c.2796C>T; p.D932D; |
pancreas | carcinoma; ductal_carcinoma |
c.1805_1806insA; p.I605fs*11; |
pancreas | carcinoma; ductal_carcinoma |
c.4084delC; p.H1362fs*12; 13:31810576-31810576 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.559G>A; p.E187K; 13:31798678-31798678 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.8510G>T; p.G2837V; |
breast | carcinoma |
c.9997C>G; p.L3333V; |
breast | carcinoma |
c.3771delA; p.I1258fs*1; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1104A>G; p.S368S; |
prostate | carcinoma |
c.1452A>G; p.V484V; |
pancreas | NS |
c.8931T>G; p.Y2977*; |
pancreas | NS |
c.520C>T; p.R174C; |
liver | carcinoma |
c.486G>A; p.G162G; |
liver | carcinoma |
c.10243delA; p.K3416fs*>3; |
lung | carcinoma; small_cell_carcinoma |
c.7253G>C; p.R2418T; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.8504C>A; p.S2835*; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.9206_9209delGTTC; p.C3069fs*5; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2317C>A; p.P773T; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.?; p.S1982fs*22; |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.T3033fs*29; |
large_intestine | carcinoma; adenocarcinoma |
c.10150C>T; p.R3384*; |
prostate | adenoma |
c.9270C>T; p.F3090F; |
endometrium | carcinoma; serous_carcinoma |
c.925_926insT; p.S309fs*6; |
endometrium | carcinoma; serous_carcinoma |
c.4272T>C; p.S1424S; |
endometrium | carcinoma; serous_carcinoma |
c.53G>A; p.R18H; 13:31788650-31788650 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.53G>A; p.R18H; 13:31788650-31788650 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3050T>G; p.I1017S; 13:31809542-31809542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3050T>G; p.I1017S; 13:31809542-31809542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2133C>A; p.C711*; 13:31808625-31808625 |
ovary | carcinoma; serous_carcinoma |
c.6187G>A; p.G2063R; |
lung | carcinoma; adenocarcinoma |
c.8472A>T; p.R2824S; |
lung | carcinoma; adenocarcinoma |
c.6357C>T; p.N2119N; |
lung | carcinoma; adenocarcinoma |
c.2758C>T; p.P920S; 13:31809250-31809250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2758C>T; p.P920S; 13:31809250-31809250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.5645C>A; p.S1882*; 13:31812137-31812137 |
ovary | carcinoma; serous_carcinoma |
c.3429A>T; p.E1143D; 13:31809921-31809921 |
ovary | carcinoma; serous_carcinoma |
c.4216_4219delAAAG; p.K1406fs*3; 13:31810708-31810711 |
ovary | carcinoma; serous_carcinoma |
c.3686delT; p.S1230fs*9; 13:31810178-31810178 |
ovary | carcinoma; serous_carcinoma |
c.8087_8102del16; p.S2697fs*31; 13:31835426-31835441 |
ovary | carcinoma; serous_carcinoma |
c.6602C>T; p.S2201F; |
lung | carcinoma; squamous_cell_carcinoma |
c.7977-1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.8458G>A; p.V2820I; |
lung | carcinoma; squamous_cell_carcinoma |
c.6292T>A; p.S2098T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1495C>T; p.Q499*; |
lung | carcinoma; squamous_cell_carcinoma |
c.4434A>G; p.L1478L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7461C>A; p.A2487A; |
lung | carcinoma; squamous_cell_carcinoma |
c.4061C>T; p.T1354M; 13:31810553-31810553 |
ovary | carcinoma; serous_carcinoma |
c.9831delG; p.P3278fs*35; 13:31870481-31870481 |
ovary | carcinoma; serous_carcinoma |
c.4912A>G; p.K1638E; 13:31811404-31811404 |
ovary | carcinoma; serous_carcinoma |
c.7821delT; p.P2608fs*40; 13:31834675-31834675 |
ovary | carcinoma; serous_carcinoma |
c.9512_9515delTACT; p.L3172fs*44; |
ovary | carcinoma; serous_carcinoma |
c.8716G>T; p.E2906*; |
ovary | carcinoma; serous_carcinoma |
c.8465T>C; p.I2822T; |
lung | carcinoma; squamous_cell_carcinoma |
c.6947A>G; p.K2316R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2868A>G; p.K956K; |
lung | carcinoma; squamous_cell_carcinoma |
c.3106G>A; p.E1036K; |
lung | carcinoma; squamous_cell_carcinoma |
c.8152A>G; p.I2718V; |
lung | carcinoma; adenocarcinoma |
c.10127C>G; p.S3376*; |
lung | carcinoma; adenocarcinoma |
c.6728C>G; p.S2243C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7822C>T; p.P2608S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4535G>A; p.R1512H; |
lung | carcinoma; adenocarcinoma |
c.2290G>A; p.E764K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2290G>A; p.E764K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5673A>T; p.A1891A; |
lung | carcinoma; squamous_cell_carcinoma |
c.10207G>C; p.E3403Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5729A>G; p.N1910S; |
ovary | carcinoma; serous_carcinoma |
c.559G>T; p.E187*; |
lung | carcinoma; squamous_cell_carcinoma |
c.6101G>A; p.R2034H; |
lung | carcinoma; squamous_cell_carcinoma |
c.7979A>G; p.Y2660C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2979G>C; p.W993C; |
lung | carcinoma; squamous_cell_carcinoma |
c.6762T>C; p.F2254F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1661G>T; p.C554F; |
lung | carcinoma; adenocarcinoma |
c.8084C>A; p.S2695*; |
lung | carcinoma; adenocarcinoma |
c.3705A>G; p.Q1235Q; |
lung | carcinoma; adenocarcinoma |
c.4936G>C; p.E1646Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9349C>A; p.H3117N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7507G>T; p.V2503F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6445A>G; p.I2149V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1729G>T; p.A577S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4621A>G; p.K1541E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9924C>G; p.Y3308*; |
breast | carcinoma |
c.8777T>G; p.L2926*; |
breast | carcinoma |
c.9146A>C; p.Y3049S; |
breast | carcinoma |
c.6529A>G; p.I2177V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2494G>A; p.E832K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7708A>T; p.K2570*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9995C>A; p.S3332Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4061C>T; p.T1354M; 13:31810553-31810553 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5044A>G; p.S1682G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7538_7539insA; p.T2515fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8526C>T; p.R2842R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8801A>G; p.Q2934R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4063G>T; p.D1355Y; |
breast | carcinoma |
c.775_776delAG; p.E260fs*15; |
breast | carcinoma |
c.3804_3806delTGT; p.V1270delV; |
breast | carcinoma |
c.7805+1G>A; p.?; |
breast | carcinoma |
c.8360G>T; p.R2787L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7795G>T; p.E2599*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9154C>T; p.R3052W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7703T>G; p.F2568C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1888A>T; p.T630S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9285C>T; p.D3095D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10071A>G; p.T3357T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8800C>T; p.Q2934*; 13:31851499-31851499 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1956T>C; p.S652S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2758C>T; p.P920S; 13:31809250-31809250 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8032A>G; p.R2678G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.522T>C; p.R174R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4944delA; p.S1650fs*20; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7243C>T; p.H2415Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4060A>G; p.T1354A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4913A>G; p.K1638R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4014C>T; p.G1338G; 13:31810506-31810506 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2495A>G; p.E832G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1011C>T; p.N337N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.996T>G; p.I332M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6473T>G; p.F2158C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9253A>G; p.T3085A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.10056T>G; p.L3352L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1435G>T; p.D479Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3575T>G; p.F1192C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8991T>G; p.Y2997*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9956C>A; p.S3319Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5881A>G; p.S1961G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9090delA; p.T3033fs*29; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4914A>G; p.K1638K; |
large_intestine; rectum | NS |
c.1888A>G; p.T630A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6464T>A; p.L2155H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.963A>C; p.Q321H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.10151G>A; p.R3384Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1368G>T; p.E456D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5637G>T; p.E1879D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6652G>T; p.D2218Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.145G>T; p.E49*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6728C>A; p.S2243Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6050A>C; p.K2017T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9047C>A; p.S3016Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7046T>G; p.F2349C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3387G>A; p.Q1129Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5044A>G; p.S1682G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7948G>C; p.E2650Q; |
breast | carcinoma |
c.9911G>C; p.C3304S; |
breast | carcinoma |
c.3199A>G; p.T1067A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3232G>A; p.V1078I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8639C>T; p.T2880I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1810A>T; p.K604*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6946A>C; p.K2316Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.587G>T; p.S196I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2603C>T; p.T868I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5315T>G; p.I1772S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5660C>T; p.T1887M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6865T>C; p.L2289L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9716C>A; p.S3239Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5645C>A; p.S1882*; 13:31812137-31812137 |
endometrium | carcinoma; endometrioid_carcinoma |
c.75A>G; p.G25G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.427C>T; p.P143S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5173G>T; p.A1725S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5282G>T; p.G1761V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5941G>T; p.A1981S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6618A>C; p.K2206N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6647C>T; p.S2216F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7006C>T; p.R2336C; |
breast | carcinoma |
c.2133C>T; p.C711C; |
large_intestine | carcinoma; adenocarcinoma |
c.3051C>A; p.I1017I; |
large_intestine | carcinoma; adenocarcinoma |
c.4012G>A; p.G1338S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.559G>T; p.E187*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1528G>T; p.E510*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2275C>A; p.L759I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2689G>T; p.E897*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7426G>T; p.E2476*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7750G>T; p.G2584C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5039C>A; p.S1680Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10186A>C; p.S3396R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3515C>T; p.S1172L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6357C>T; p.N2119N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6058G>A; p.E2020K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7625C>T; p.T2542M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4179G>A; p.A1393A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.794-1G>A; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1922C>A; p.S641Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7559G>A; p.R2520Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8858A>C; p.E2953A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4913A>G; p.K1638R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8360G>T; p.R2787L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9090delA; p.T3033fs*29; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4014C>T; p.G1338G; 13:31810506-31810506 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2632G>A; p.D878N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4060A>G; p.T1354A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4914A>T; p.K1638N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5044A>G; p.S1682G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8971C>T; p.R2991C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.561G>A; p.E187E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6012A>G; p.E2004E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.374A>G; p.D125G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.565G>C; p.D189H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4403C>T; p.S1468F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8524C>T; p.R2842C; 13:31843129-31843129 |
endometrium | carcinoma; endometrioid_carcinoma |
c.1444C>A; p.L482I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4706A>G; p.Y1569C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6058G>A; p.E2020K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8295T>C; p.C2765C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8524C>T; p.R2842C; 13:31843129-31843129 |
endometrium | carcinoma; endometrioid_carcinoma |
c.3575T>G; p.F1192C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5240A>G; p.N1747S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7314T>C; p.D2438D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8131G>A; p.A2711T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9741G>T; p.Q3247H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2962G>A; p.D988N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7463G>C; p.R2488T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3476G>A; p.C1159Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9889G>A; p.A3297T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8663G>A; p.R2888H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2553C>G; p.F851L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3568C>T; p.R1190W; |
cervix | carcinoma; squamous_cell_carcinoma |
c.2528C>T; p.A843V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6290C>T; p.T2097M; |
urinary_tract; bladder | carcinoma |
c.938C>A; p.S313Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2985A>T; p.G995G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8223G>T; p.K2741N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7050C>T; p.T2350T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8663G>A; p.R2888H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7006C>T; p.R2336C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.464G>T; p.R155I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3191C>A; p.S1064*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3417G>T; p.K1139N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4820T>G; p.I1607S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7417T>C; p.C2473R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4048C>A; p.H1350N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4321G>T; p.E1441*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9529G>C; p.E3177Q; |
breast | carcinoma |
c.8360G>T; p.R2787L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.289G>T; p.E97*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.841G>T; p.D281Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1334C>A; p.S445Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1838T>G; p.L613R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2701C>A; p.L901I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4054G>T; p.D1352Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7407T>G; p.T2469T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7904A>G; p.E2635G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4477G>T; p.E1493*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6469C>T; p.Q2157*; |
urinary_tract; bladder | carcinoma |
c.4304A>C; p.N1435T; |
prostate | carcinoma; adenocarcinoma |
c.4060A>G; p.T1354A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3288T>G; p.D1096E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3286G>A; p.D1096N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4627delA; p.N1544fs*24; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2758C>T; p.P920S; 13:31809250-31809250 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4778A>G; p.E1593G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1528G>T; p.E510*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6012A>G; p.E2004E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6012A>G; p.E2004E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1889C>T; p.T630I; 13:31805504-31805504 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7244A>G; p.H2415R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.951delA; p.N319fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8032A>G; p.R2678G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5044A>G; p.S1682G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3050T>C; p.I1017T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8800C>A; p.Q2934K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.284T>A; p.V95E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8521T>A; p.F2841I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7481G>A; p.R2494Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4585G>A; p.G1529R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4534C>T; p.R1512C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5985C>T; p.N1995N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.862C>T; p.P288S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4146A>C; p.E1382D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4258G>A; p.D1420N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4790C>A; p.S1597Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5354C>T; p.T1785I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6803G>T; p.R2268I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7253G>T; p.R2418I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9155G>A; p.R3052Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7266T>A; p.C2422*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9285C>T; p.D3095D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.52C>T; p.R18C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.561G>T; p.E187D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9285C>T; p.D3095D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5046T>C; p.S1682S; 13:31811538-31811538 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.561G>T; p.E187D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3429A>G; p.E1143E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5044A>G; p.S1682G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9285C>T; p.D3095D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3049A>G; p.I1017V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3050T>C; p.I1017T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.415C>G; p.L139V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2296G>A; p.A766T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9606G>A; p.P3202P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5044A>G; p.S1682G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2760C>T; p.P920P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9384A>G; p.R3128R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4014C>T; p.G1338G; 13:31810506-31810506 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8341A>G; p.N2781D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6241G>C; p.E2081Q; |
urinary_tract; bladder | carcinoma |
c.7389T>C; p.N2463N; |
urinary_tract; bladder | carcinoma |
c.2194G>C; p.E732Q; |
urinary_tract; bladder | carcinoma |
c.2123C>A; p.S708Y; |
urinary_tract; bladder | carcinoma |
c.4060A>G; p.T1354A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2956_2958delAAT; p.N987delN; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.10071A>T; p.T3357T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2476G>T; p.E826*; |
cervix | carcinoma; squamous_cell_carcinoma |
c.6012A>G; p.E2004E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.10070C>T; p.T3357I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1794_1798delATCTT; p.S599fs*1; |
breast | carcinoma |
c.8524C>A; p.R2842S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5067delA; p.K1691fs*15; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1042G>A; p.V348M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8033G>T; p.R2678M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3472G>C; p.E1158Q; |
breast | carcinoma |
c.3573G>C; p.K1191N; |
breast | carcinoma |
c.615T>G; p.S205R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4303A>C; p.N1435H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10069A>G; p.T3357A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4012G>T; p.G1338C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9285C>T; p.D3095D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3051C>A; p.I1017I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4779A>G; p.E1593E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2950_2951insA; p.N986fs*2; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5227A>C; p.S1743R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5046T>C; p.S1682S; 13:31811538-31811538 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4036A>G; p.T1346A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3376G>C; p.E1126Q; |
urinary_tract; bladder | carcinoma |
c.4156G>T; p.D1386Y; |
urinary_tract; bladder | carcinoma |
c.4709G>C; p.R1570T; |
urinary_tract; bladder | carcinoma |
c.5683G>A; p.E1895K; |
urinary_tract; bladder | carcinoma |
c.5731G>A; p.D1911N; |
urinary_tract; bladder | carcinoma |
c.5020A>G; p.S1674G; |
prostate | carcinoma |
c.1955C>T; p.S652F; |
skin | malignant_melanoma |
c.3769C>T; p.P1257S; |
skin | malignant_melanoma |
c.9580C>A; p.P3194T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9090delA; p.T3033fs*29; |
stomach | adenocarcinoma |
c.569C>A; p.P190H; |
stomach | adenocarcinoma |
c.1237C>G; p.L413V; |
stomach | adenocarcinoma |
c.5345delA; p.N1784fs*7; 13:31811837-31811837 |
stomach | adenocarcinoma |
c.5500A>C; p.S1834R; |
stomach | adenocarcinoma |