| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1294 |
Name | COL7A1 |
Synonymous | EBD1|EBDCT|EBR1;collagen, type VII, alpha 1;COL7A1;collagen, type VII, alpha 1 |
Definition | LC collagen|collagen VII, alpha-1 polypeptide|collagen alpha-1(VII) chain|long-chain collagen |
Position | 3p21.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for COL7A1 | ||
PCGP somatic mutation [Top] | ||
There is no record for COL7A1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1489G>A; p.A497T; |
liver | carcinoma; hepatocellular_carcinoma |
c.3541C>T; p.Q1181*; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.4859G>A; p.R1620Q; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.5827G>A; p.D1943N; |
NS | malignant_melanoma |
c.312C>T; p.I104I; |
NS | malignant_melanoma |
c.5827G>A; p.D1943N; |
NS | malignant_melanoma |
c.312C>T; p.I104I; |
NS | malignant_melanoma |
c.7615-2A>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.6235G>A; p.G2079R; |
NS | malignant_melanoma |
c.6235G>A; p.G2079R; |
NS | malignant_melanoma |
c.6472C>A; p.R2158S; |
NS | NS |
c.2679G>A; p.A893A; |
NS | malignant_melanoma |
c.299G>A; p.G100E; |
lung | carcinoma; small_cell_carcinoma |
c.5315G>A; p.R1772Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3694G>T; p.A1232S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1099C>T; p.P367S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4057G>A; p.G1353R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.53C>T; p.A18V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8234G>A; p.R2745Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5257C>A; p.P1753T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8383C>T; p.R2795C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4121G>C; p.G1374A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7686G>T; p.K2562N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5963G>T; p.G1988V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6081delC; p.P2029fs*177; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8636C>A; p.P2879Q; |
NS | NS |
c.7150C>T; p.P2384S; |
skin; shoulder | malignant_melanoma |
c.7432G>A; p.G2478S; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.892C>T; p.R298W; |
pancreas | carcinoma; acinar_carcinoma |
c.6081delC; p.P2029fs*177; |
pancreas | carcinoma; acinar_carcinoma |
c.372C>G; p.L124L; |
urinary_tract; bladder | carcinoma |
c.4096C>T; p.R1366W; 3:48596945-48596945 |
breast | carcinoma; ductal_carcinoma |
c.4090C>A; p.P1364T; 3:48596951-48596951 |
breast | carcinoma; ductal_carcinoma |
c.7207G>T; p.V2403F; |
liver | carcinoma |
c.5737-3C>T; p.?; 3:48588875-48588875 |
skin | malignant_melanoma |
c.5586A>G; p.S1862S; 3:48589339-48589339 |
skin | malignant_melanoma |
c.3213T>C; p.A1071A; |
oesophagus | carcinoma; adenocarcinoma |
c.4386G>A; p.G1462G; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.322C>T; p.R108C; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.4796T>C; p.L1599P; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.4923C>T; p.D1641D; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.7051G>A; p.G2351R; |
oesophagus | carcinoma; adenocarcinoma |
c.8779C>T; p.R2927C; |
oesophagus | carcinoma; adenocarcinoma |
c.6765G>A; p.K2255K; |
oesophagus | carcinoma; adenocarcinoma |
c.7217C>T; p.P2406L; |
oesophagus | carcinoma; adenocarcinoma |
c.6978G>A; p.P2326P; |
stomach | carcinoma; adenocarcinoma |
c.7851C>A; p.G2617G; |
liver | carcinoma |
c.355A>C; p.T119P; 3:48606045-48606045 |
breast | carcinoma; ductal_carcinoma |
c.6001G>T; p.E2001*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5965C>T; p.P1989S; |
liver | carcinoma; hepatocellular_carcinoma |
c.416G>A; p.G139D; |
liver | carcinoma |
c.4097G>A; p.R1366Q; |
large_intestine; colon | carcinoma |
c.8357C>T; p.T2786M; |
large_intestine; colon | carcinoma |
c.8018C>A; p.P2673H; |
large_intestine; colon | carcinoma |
c.2992+2T>G; p.?; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.5306A>T; p.K1769M; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2340G>A; p.S780S; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.3576G>A; p.M1192I; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.839G>A; p.R280Q; |
lung | carcinoma; adenocarcinoma |
c.44T>G; p.L15R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.8299G>A; p.E2767K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7813G>A; p.G2605R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1576G>A; p.V526M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5032C>T; p.P1678S; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.6806G>A; p.G2269E; |
skin; leg | malignant_melanoma; nodular |
c.8611G>A; p.D2871N; |
lung | carcinoma; adenocarcinoma |
c.1474G>A; p.E492K; |
lung | carcinoma; adenocarcinoma |
c.1511C>A; p.P504Q; |
lung | carcinoma; adenocarcinoma |
c.971G>A; p.R324Q; |
lung | carcinoma; adenocarcinoma |
c.3956C>T; p.P1319L; |
lung | carcinoma; adenocarcinoma |
c.6353A>G; p.E2118G; |
lung | carcinoma; adenocarcinoma |
c.3950G>A; p.G1317E; |
lung | carcinoma; adenocarcinoma |
c.5090G>T; p.G1697V; |
lung | carcinoma; adenocarcinoma |
c.3315G>T; p.L1105L; |
lung | carcinoma; adenocarcinoma |
c.2065G>T; p.V689L; |
lung | carcinoma; adenocarcinoma |
c.5081G>A; p.G1694D; |
lung | carcinoma; adenocarcinoma |
c.5922C>T; p.P1974P; |
lung | carcinoma; adenocarcinoma |
c.5124+1G>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.2144A>C; p.Y715S; |
lung | carcinoma; adenocarcinoma |
c.1836G>T; p.T612T; |
lung | carcinoma; adenocarcinoma |
c.5865C>A; p.A1955A; |
lung | carcinoma; adenocarcinoma |
c.7594C>T; p.R2532W; |
lung | carcinoma; adenocarcinoma |
c.8796G>T; p.R2932R; |
lung | carcinoma; adenocarcinoma |
c.1495G>A; p.V499M; |
lung | carcinoma; adenocarcinoma |
c.8707G>A; p.A2903T; |
lung | carcinoma; adenocarcinoma |
c.8028G>A; p.E2676E; |
lung | carcinoma; adenocarcinoma |
c.4493G>A; p.G1498E; |
lung | carcinoma; adenocarcinoma |
c.7198C>T; p.P2400S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.1551C>T; p.T517T; |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; large_cell |
c.7198C>T; p.P2400S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.7198C>T; p.P2400S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.4411G>A; p.G1471R; |
NS | malignant_melanoma |
c.5134G>A; p.G1712R; |
skin; trunk | malignant_melanoma |
c.589_591delTTC; p.F197delF; |
skin; lower_leg | malignant_melanoma |
c.4322_4323insC; p.G1442fs*8; |
skin; back | malignant_melanoma |
c.2371G>A; p.V791I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.8065G>A; p.G2689R; |
meninges | meningioma |
c.7971C>G; p.H2657Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.7070G>A; p.G2357D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.3578C>A; p.A1193D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.3454G>C; p.G1152R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.5995C>T; p.P1999S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.3747G>T; p.V1249V; |
autonomic_ganglia | neuroblastoma |
c.7289delC; p.P2430fs*36; |
autonomic_ganglia | neuroblastoma |
c.4472C>A; p.A1491D; |
autonomic_ganglia | neuroblastoma |
c.4398G>T; p.E1466D; |
pancreas | carcinoma; ductal_carcinoma |
c.4398G>T; p.E1466D; |
NS | NS |
c.5843C>T; p.T1948I; |
NS | NS |
c.2431C>T; p.R811W; |
prostate | carcinoma |
c.7095A>C; p.K2365N; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.8000C>T; p.P2667L; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.6023G>A; p.R2008H; |
large_intestine; colon | adenoma |
c.986A>C; p.E329A; |
central_nervous_system; brain | glioma |
c.6454C>T; p.P2152S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.7299A>T; p.E2433D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5819C>A; p.P1940Q; |
lung | carcinoma; adenocarcinoma |
c.8348C>A; p.A2783D; |
lung | carcinoma; adenocarcinoma |
c.7854C>G; p.F2618L; |
lung | carcinoma; adenocarcinoma |
c.6602G>T; p.G2201V; |
lung | carcinoma; adenocarcinoma |
c.8310G>T; p.R2770R; |
lung | carcinoma; adenocarcinoma |
c.4342-2A>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.3765G>T; p.Q1255H; 3:48598288-48598288 |
ovary | carcinoma; serous_carcinoma |
c.1428G>A; p.P476P; 3:48604189-48604189 |
ovary | carcinoma; serous_carcinoma |
c.7052G>C; p.G2351A; 3:48584454-48584454 |
ovary | carcinoma; serous_carcinoma |
c.6393+1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.7534A>G; p.S2512G; |
lung | carcinoma; squamous_cell_carcinoma |
c.2067G>A; p.V689V; |
lung | carcinoma; squamous_cell_carcinoma |
c.7774G>A; p.A2592T; |
ovary | carcinoma; serous_carcinoma |
c.8565_8566insCC; p.S2856fs*43; |
ovary | carcinoma; serous_carcinoma |
c.5589C>T; p.G1863G; |
ovary | carcinoma; serous_carcinoma |
c.2649G>A; p.L883L; 3:48600780-48600780 |
ovary | carcinoma; serous_carcinoma |
c.1349G>A; p.R450H; |
ovary | carcinoma; serous_carcinoma |
c.8027A>T; p.E2676V; |
lung | carcinoma; squamous_cell_carcinoma |
c.8290G>A; p.E2764K; |
ovary | carcinoma; serous_carcinoma |
c.3916C>A; p.R1306S; |
lung | carcinoma; squamous_cell_carcinoma |
c.930C>T; p.L310L; |
lung | carcinoma; adenocarcinoma |
c.1573C>T; p.R525*; |
lung | carcinoma; squamous_cell_carcinoma |
c.8512C>T; p.H2838Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.3190G>C; p.D1064H; |
ovary | carcinoma; serous_carcinoma |
c.4320C>T; p.P1440P; |
lung | carcinoma; squamous_cell_carcinoma |
c.4321C>T; p.P1441S; |
lung | carcinoma; squamous_cell_carcinoma |
c.6190G>T; p.G2064*; |
lung | carcinoma; squamous_cell_carcinoma |
c.4942C>A; p.P1648T; |
lung | carcinoma; adenocarcinoma |
c.4520G>T; p.G1507V; |
lung | carcinoma; adenocarcinoma |
c.1546G>A; p.A516T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7843G>C; p.D2615H; |
lung | carcinoma; adenocarcinoma |
c.5135G>T; p.G1712V; |
lung | carcinoma; adenocarcinoma |
c.4714G>T; p.G1572W; |
lung | carcinoma; adenocarcinoma |
c.7423G>A; p.G2475R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2477C>G; p.T826R; |
lung | carcinoma; adenocarcinoma |
c.3938C>T; p.A1313V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3702T>A; p.C1234*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6393+1G>C; p.?; |
lung | carcinoma; adenocarcinoma |
c.8107C>A; p.R2703R; |
lung | carcinoma; adenocarcinoma |
c.1349G>T; p.R450L; |
lung | carcinoma; squamous_cell_carcinoma |
c.8292G>A; p.E2764E; |
lung | carcinoma; squamous_cell_carcinoma |
c.2086C>T; p.Q696*; |
lung | carcinoma; squamous_cell_carcinoma |
c.8074G>T; p.G2692C; |
lung | carcinoma; squamous_cell_carcinoma |
c.960C>A; p.S320R; |
lung | carcinoma; adenocarcinoma |
c.1774C>T; p.R592C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4706G>T; p.G1569V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6259C>G; p.P2087A; |
lung | carcinoma; adenocarcinoma |
c.7406G>T; p.G2469V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3458G>A; p.R1153H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.5689C>A; p.P1897T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1326T>A; p.R442R; |
lung | carcinoma; adenocarcinoma |
c.1293C>T; p.I431I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1580C>A; p.S527Y; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.6126C>T; p.P2042P; |
breast | carcinoma |
c.1342T>C; p.W448R; |
breast | carcinoma |
c.663C>T; p.G221G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7416C>T; p.G2472G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5883G>A; p.E1961E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8684G>A; p.R2895Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6005G>A; p.R2002H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8025G>T; p.K2675N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8774G>A; p.C2925Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4613G>A; p.R1538H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1277T>C; p.L426P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2552G>A; p.R851H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7882C>T; p.R2628W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2817A>G; p.P939P; |
breast | carcinoma |
c.6298G>T; p.G2100C; |
breast | carcinoma |
c.2026G>A; p.A676T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4984G>A; p.A1662T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1428G>T; p.P476P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3299A>G; p.H1100R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8223G>T; p.Q2741H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6081delC; p.P2029fs*177; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7453C>T; p.R2485C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3558T>C; p.N1186N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2551C>T; p.R851C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2104G>A; p.V702I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.630C>T; p.L210L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1895G>A; p.S632N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.233G>A; p.R78H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3723+6G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7082C>T; p.A2361V; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.5928G>A; p.R1976R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7270C>T; p.R2424W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4096C>T; p.R1366W; 3:48596945-48596945 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.933C>T; p.Y311Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.390C>A; p.V130V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8776G>A; p.E2926K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4591G>T; p.G1531*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7270C>T; p.R2424W; |
breast | carcinoma |
c.6993C>T; p.D2331D; |
breast | carcinoma |
c.7510C>T; p.R2504C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7461C>T; p.G2487G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6735T>C; p.G2245G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2678C>T; p.A893V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6558A>G; p.G2186G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4824C>A; p.D1608E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1370C>A; p.P457Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8474G>A; p.G2825D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7631G>A; p.R2544Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3781G>T; p.E1261*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3197C>T; p.A1066V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2573T>C; p.I858T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.877C>T; p.R293W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7453C>T; p.R2485C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.498G>A; p.Q166Q; |
breast | carcinoma |
c.4859G>A; p.R1620Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.589_591delTTC; p.F197delF; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1427C>T; p.P476L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8137G>T; p.G2713C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5389-10C>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7357G>A; p.A2453T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1813C>T; p.R605W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4096C>T; p.R1366W; 3:48596945-48596945 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4322delC; p.P1441fs*269; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4127delC; p.P1376fs*23; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7051G>T; p.G2351*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7164+1G>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7817T>C; p.V2606A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6309C>T; p.L2103L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4607C>A; p.P1536H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8427C>T; p.I2809I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3412G>A; p.V1138M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5508C>T; p.G1836G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8324G>T; p.G2775V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6245G>A; p.G2082E; |
breast | carcinoma |
c.4235G>A; p.G1412E; |
urinary_tract; bladder | carcinoma |
c.7930G>T; p.G2644*; |
urinary_tract; bladder | carcinoma |
c.8504G>A; p.R2835H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1732C>T; p.R578*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6082G>T; p.G2028W; |
urinary_tract; bladder | carcinoma |
c.7013G>A; p.R2338Q; |
urinary_tract; bladder | carcinoma |
c.3507G>C; p.L1169F; |
urinary_tract; bladder | carcinoma |
c.3009G>A; p.P1003P; |
prostate | carcinoma; adenocarcinoma |
c.7024-1G>A; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6350G>T; p.G2117V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2349G>T; p.Q783H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6893delC; p.P2298fs*90; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3602G>A; p.R1201H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.589_591delTTC; p.F197delF; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5956G>A; p.E1986K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6187C>T; p.R2063W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6074G>C; p.G2025A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5441G>A; p.R1814H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1131G>T; p.Q377H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1680C>T; p.F560F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2145C>T; p.Y715Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8400G>A; p.Q2800Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2679G>A; p.A893A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.970C>T; p.R324W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7984G>A; p.G2662R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3317T>G; p.F1106C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.554G>A; p.R185Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6188G>A; p.R2063Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3615G>A; p.P1205P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4097G>T; p.R1366L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6160G>A; p.A2054T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1870G>A; p.A624T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5344G>A; p.G1782R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4342G>A; p.G1448S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8683C>T; p.R2895W; |
urinary_tract; bladder | carcinoma |
c.2415C>G; p.Y805*; |
urinary_tract; bladder | carcinoma |
c.313C>T; p.R105C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1849G>T; p.A617S; |
breast | carcinoma |
c.7027G>A; p.E2343K; |
breast | carcinoma |
c.688G>A; p.D230N; |
urinary_tract; bladder | carcinoma |
c.7127C>T; p.P2376L; |
prostate | carcinoma; adenocarcinoma |
c.5947G>T; p.D1983Y; |
breast | carcinoma |
c.8536C>T; p.P2846S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1428G>A; p.P476P; 3:48604189-48604189 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5614G>A; p.G1872S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8054G>A; p.R2685Q; |
urinary_tract; bladder | carcinoma |
c.6173G>A; p.G2058E; |
urinary_tract; bladder | carcinoma |
c.4837G>A; p.G1613R; |
urinary_tract; bladder | carcinoma |
c.6877G>A; p.G2293S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5584T>C; p.S1862P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7522-2A>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8782C>T; p.R2928C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8142delC; p.S2715fs*71; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.323G>A; p.R108H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6368G>T; p.G2123V; |
urinary_tract; bladder | carcinoma |
c.3820C>A; p.P1274T; |
prostate | carcinoma; adenocarcinoma |
c.683C>T; p.P228L; |
kidney | carcinoma; renal_cell_carcinoma |
c.6735delT; p.L2246fs*142; |
kidney | carcinoma; renal_cell_carcinoma |
c.313C>T; p.R105C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.4001G>A; p.R1334H; |
prostate | carcinoma |
c.933C>T; p.Y311Y; |
prostate | carcinoma |
c.4970G>A; p.R1657H; |
prostate | carcinoma |
c.8488G>A; p.A2830T; |
skin | malignant_melanoma |
c.5200G>A; p.G1734S; |
skin | malignant_melanoma |
c.8168C>T; p.P2723L; |
skin | malignant_melanoma |
c.4847G>A; p.G1616E; |
skin | malignant_melanoma |
c.6527delC; p.P2176fs*30; |
skin | malignant_melanoma |
c.2527C>T; p.R843*; |
skin | malignant_melanoma |
c.5300G>A; p.G1767E; |
skin | malignant_melanoma |
c.5498G>A; p.G1833D; |
skin | malignant_melanoma |
c.8012_8013GG>AC; p.G2671D; |
skin; mucosal | malignant_melanoma |
c.130G>A; p.D44N; |
skin; mucosal | malignant_melanoma |
c.5320C>T; p.P1774S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.2297C>T; p.S766F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.6704C>T; p.S2235L; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.8324G>T; p.G2775V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4145T>C; p.L1382P; |
stomach | adenocarcinoma |
c.2339C>T; p.S780L; |
stomach | adenocarcinoma |