| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 57448 |
Name | BIRC6 |
Synonymous | APOLLON|BRUCE;baculoviral IAP repeat containing 6;BIRC6;baculoviral IAP repeat containing 6 |
Definition | baculoviral IAP repeat-containing 6|baculoviral IAP repeat-containing protein 6|ubiquitin-conjugating BIR domain enzyme apollon|ubiquitin-conjugating BIR-domain enzyme apollon |
Position | 2p22.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BIRC6 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
BIRC6_H2238R; chr2; 32698300 |
SUB; MISSENSE; A; A/G; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.3997A>C; p.N1333H; |
liver | carcinoma; hepatocellular_carcinoma |
c.11060T>G; p.L3687R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.11060T>G; p.L3687R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.11060T>G; p.L3687R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4973C>G; p.T1658R; |
liver | carcinoma; hepatocellular_carcinoma |
c.8834C>T; p.S2945F; |
skin; ear | malignant_melanoma |
c.2182G>T; p.E728*; |
large_intestine | carcinoma; adenocarcinoma |
c.2182G>T; p.E728*; |
large_intestine | adenoma |
c.12095-1G>C; p.?; |
lung | carcinoma; non_small_cell_carcinoma |
c.4931T>G; p.L1644R; |
NS | malignant_melanoma |
c.13084G>C; p.E4362Q; |
NS | malignant_melanoma |
c.4931T>G; p.L1644R; |
NS | malignant_melanoma |
c.13084G>C; p.E4362Q; |
NS | malignant_melanoma |
c.4810G>T; p.E1604*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2000T>A; p.I667N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3089G>A; p.R1030H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5783A>T; p.Y1928F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13993-2A>C; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1121C>G; p.T374R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3816A>C; p.K1272N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6028A>T; p.N2010Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9851G>A; p.R3284H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11590A>G; p.T3864A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2909G>A; p.C970Y; |
pancreas | carcinoma; acinar_carcinoma |
c.12455C>A; p.P4152H; |
pancreas | carcinoma; acinar_carcinoma |
c.4259G>A; p.C1420Y; |
pancreas | carcinoma; acinar_carcinoma |
c.4835C>A; p.A1612E; |
liver | carcinoma |
c.6955C>T; p.L2319F; |
liver | carcinoma |
c.10821A>C; p.E3607D; |
liver | carcinoma |
c.10374T>G; p.S3458R; |
liver | carcinoma |
c.729T>G; p.N243K; |
liver | carcinoma |
c.2965G>A; p.E989K; 2:32507810-32507810 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.11777G>A; p.R3926H; |
large_intestine; rectum | adenoma |
c.6809A>G; p.K2270R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6496delC; p.M2167fs*1; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.9802C>T; p.Q3268*; 2:32586652-32586652 |
skin | malignant_melanoma |
c.9802C>T; p.Q3268*; 2:32586652-32586652 |
skin | malignant_melanoma |
c.9024G>A; p.M3008I; 2:32578673-32578673 |
skin | malignant_melanoma |
c.4996G>A; p.A1666T; |
oesophagus | carcinoma; adenocarcinoma |
c.7421T>G; p.L2474R; |
oesophagus | carcinoma; adenocarcinoma |
c.10477C>A; p.H3493N; |
oesophagus | carcinoma; adenocarcinoma |
c.1130C>T; p.A377V; |
oesophagus | carcinoma; adenocarcinoma |
c.11729A>G; p.D3910G; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.14354G>A; p.R4785Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.13931A>T; p.N4644I; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.13816C>A; p.L4606I; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.5568G>A; p.M1856I; |
oesophagus | carcinoma; adenocarcinoma |
c.13752G>A; p.T4584T; |
stomach | carcinoma; adenocarcinoma |
c.2518G>A; p.E840K; |
lung | carcinoma; small_cell_carcinoma |
c.5225C>T; p.A1742V; |
lung | carcinoma; adenocarcinoma |
c.9980+10G>T; p.?; |
liver | carcinoma |
c.13509A>C; p.K4503N; 2:32673612-32673612 |
breast | carcinoma; ductal_carcinoma |
c.4541G>T; p.G1514V; |
liver | carcinoma; hepatocellular_carcinoma |
c.5595G>T; p.G1865G; |
liver | carcinoma |
c.8530C>G; p.L2844V; |
liver | carcinoma |
c.5371G>T; p.V1791L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9710C>T; p.S3237F; |
lung | carcinoma; adenocarcinoma |
c.12810+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.7339G>A; p.D2447N; |
lung | carcinoma; adenocarcinoma |
c.1235delG; p.D413fs*6; |
lung | carcinoma; adenocarcinoma |
c.2410C>T; p.P804S; |
lung | carcinoma; adenocarcinoma |
c.6347delG; p.V2117fs*19; |
lung | carcinoma; adenocarcinoma |
c.3361C>G; p.Q1121E; |
lung | carcinoma; adenocarcinoma |
c.9208-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.12343G>A; p.D4115N; |
lung | carcinoma; adenocarcinoma |
c.1337G>C; p.G446A; |
lung | carcinoma; adenocarcinoma |
c.2442G>T; p.Q814H; |
lung | carcinoma; adenocarcinoma |
c.2909G>T; p.C970F; |
lung | carcinoma; adenocarcinoma |
c.8705G>T; p.R2902L; |
lung | carcinoma; adenocarcinoma |
c.8580A>G; p.I2860M; |
lung | carcinoma; adenocarcinoma |
c.4069T>C; p.C1357R; |
lung | carcinoma; adenocarcinoma |
c.9889A>T; p.K3297*; |
lung | carcinoma; adenocarcinoma |
c.9740G>A; p.G3247E; |
lung | carcinoma; adenocarcinoma |
c.3066G>T; p.L1022F; |
lung | carcinoma; adenocarcinoma |
c.11002C>G; p.H3668D; |
lung | carcinoma; adenocarcinoma |
c.4424C>G; p.T1475S; |
lung | carcinoma; adenocarcinoma |
c.10015A>T; p.T3339S; |
lung | carcinoma; adenocarcinoma |
c.14024G>T; p.G4675V; |
lung | carcinoma; adenocarcinoma |
c.2059T>A; p.Y687N; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2624A>G; p.E875G; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.11474T>C; p.F3825S; 2:32596949-32596949 |
pancreas | carcinoma; ductal_carcinoma |
c.7717G>A; p.V2573I; 2:32564234-32564234 |
skin | malignant_melanoma |
c.1111A>T; p.T371S; 2:32479811-32479811 |
lung | carcinoma; non_small_cell_carcinoma |
c.11049_11061del13; p.A3684fs*3; 2:32594041-32594053 |
lung | carcinoma; non_small_cell_carcinoma |
c.11294C>T; p.A3765V; |
prostate | carcinoma |
c.9915T>C; p.G3305G; |
NS | NS |
c.9339T>C; p.T3113T; |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.1398A>G; p.I466M; |
breast | carcinoma |
c.11600C>T; p.S3867L; |
breast | carcinoma |
c.7184G>T; p.G2395V; |
breast | carcinoma |
c.4169G>A; p.R1390H; |
NS | NS |
c.2722C>G; p.Q908E; |
NS | NS |
c.5323C>T; p.H1775Y; |
NS | NS |
c.2446G>C; p.E816Q; |
breast | carcinoma; HER-positive_carcinoma |
c.3878G>T; p.C1293F; |
prostate | carcinoma |
c.2825C>T; p.S942F; |
prostate | carcinoma |
c.5101A>T; p.T1701S; |
liver | carcinoma |
c.4679T>G; p.L1560R; |
liver | carcinoma |
c.8238G>T; p.E2746D; |
prostate | adenoma |
c.3551G>T; p.G1184V; |
prostate | adenoma |
c.6663T>C; p.S2221S; |
prostate | adenoma |
c.10436_10437insT; p.S3480fs*25; |
endometrium | carcinoma; serous_carcinoma |
c.8669G>T; p.R2890L; |
lung | carcinoma; adenocarcinoma |
c.8137A>T; p.N2713Y; |
lung | carcinoma; adenocarcinoma |
c.1973A>T; p.H658L; |
ovary | carcinoma; serous_carcinoma |
c.905G>C; p.R302T; 2:32470676-32470676 |
ovary | carcinoma; serous_carcinoma |
c.14163A>T; p.T4721T; |
lung | carcinoma; squamous_cell_carcinoma |
c.7831G>T; p.G2611*; |
lung | carcinoma; squamous_cell_carcinoma |
c.12926C>T; p.A4309V; |
lung | carcinoma; squamous_cell_carcinoma |
c.12379G>A; p.E4127K; |
lung | carcinoma; squamous_cell_carcinoma |
c.10900C>G; p.L3634V; |
lung | carcinoma; squamous_cell_carcinoma |
c.13096C>G; p.Q4366E; |
lung | carcinoma; squamous_cell_carcinoma |
c.14171C>T; p.S4724F; |
lung | carcinoma; squamous_cell_carcinoma |
c.13605A>G; p.L4535L; |
lung | carcinoma; squamous_cell_carcinoma |
c.5311C>G; p.Q1771E; 2:32543691-32543691 |
ovary | carcinoma; serous_carcinoma |
c.12758C>T; p.A4253V; 2:32624379-32624379 |
ovary | carcinoma; serous_carcinoma |
c.14015C>T; p.T4672M; |
ovary | carcinoma; serous_carcinoma |
c.5661G>A; p.W1887*; 2:32546564-32546564 |
ovary | carcinoma; serous_carcinoma |
c.12970C>T; p.L4324L; |
lung | carcinoma; squamous_cell_carcinoma |
c.14387C>G; p.A4796G; |
lung | carcinoma; squamous_cell_carcinoma |
c.3752A>T; p.H1251L; |
lung | carcinoma; squamous_cell_carcinoma |
c.10494A>G; p.A3498A; |
lung | carcinoma; squamous_cell_carcinoma |
c.10090G>T; p.A3364S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2471A>G; p.Y824C; |
lung | carcinoma; adenocarcinoma |
c.13027C>G; p.Q4343E; |
lung | carcinoma; squamous_cell_carcinoma |
c.10861G>C; p.E3621Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.10430C>T; p.P3477L; |
lung | carcinoma; squamous_cell_carcinoma |
c.11900T>C; p.L3967P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1181G>A; p.G394E; |
lung | carcinoma; adenocarcinoma |
c.8130G>C; p.W2710C; |
lung | carcinoma; adenocarcinoma |
c.826C>T; p.R276C; |
lung | carcinoma; adenocarcinoma |
c.12539A>T; p.H4180L; |
lung | carcinoma; adenocarcinoma |
c.12455C>G; p.P4152R; |
lung | carcinoma; adenocarcinoma |
c.9203G>T; p.R3068I; |
lung | carcinoma; adenocarcinoma |
c.4982C>T; p.A1661V; |
lung | carcinoma; adenocarcinoma |
c.3488A>C; p.E1163A; |
ovary | carcinoma; serous_carcinoma |
c.14416G>A; p.E4806K; |
lung | carcinoma; squamous_cell_carcinoma |
c.7156C>G; p.L2386V; |
lung | carcinoma; squamous_cell_carcinoma |
c.11821A>T; p.R3941W; |
lung | carcinoma; squamous_cell_carcinoma |
c.10918G>T; p.A3640S; |
lung | carcinoma; squamous_cell_carcinoma |
c.3964T>A; p.L1322I; |
lung | carcinoma; adenocarcinoma |
c.418C>T; p.L140F; |
lung | carcinoma; adenocarcinoma |
c.12877A>C; p.T4293P; |
lung | carcinoma; adenocarcinoma |
c.9076G>T; p.G3026W; |
lung | carcinoma; squamous_cell_carcinoma |
c.3755A>C; p.Q1252P; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.12985A>T; p.S4329C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10203G>C; p.L3401L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8661G>T; p.V2887V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1902C>G; p.S634R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2061C>G; p.Y687*; 2:32493924-32493924 |
ovary | carcinoma; serous_carcinoma |
c.4606G>T; p.D1536Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.13827G>C; p.M4609I; |
lung | carcinoma; squamous_cell_carcinoma |
c.4047G>C; p.Q1349H; |
lung | carcinoma; squamous_cell_carcinoma |
c.9523A>T; p.T3175S; |
lung | carcinoma; squamous_cell_carcinoma |
c.4893A>C; p.L1631L; |
ovary | carcinoma; serous_carcinoma |
c.14378A>G; p.H4793R; |
lung | carcinoma; adenocarcinoma |
c.5473G>C; p.E1825Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.11890G>T; p.V3964L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7193C>A; p.S2398Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.13588G>T; p.A4530S; |
lung | carcinoma; squamous_cell_carcinoma |
c.11946A>G; p.T3982T; |
lung | carcinoma; squamous_cell_carcinoma |
c.13107C>G; p.L4369L; |
lung | carcinoma; squamous_cell_carcinoma |
c.10324C>G; p.Q3442E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1947G>A; p.M649I; |
lung | carcinoma; adenocarcinoma |
c.6222A>G; p.I2074M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.13002C>T; p.V4334V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.13348C>T; p.R4450C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8928G>A; p.S2976S; |
lung | carcinoma; squamous_cell_carcinoma |
c.10403G>T; p.R3468I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4485-1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10511G>A; p.S3504N; |
breast | carcinoma |
c.10579A>T; p.N3527Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7095G>A; p.T2365T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11698G>T; p.E3900*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4612C>A; p.L1538I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5659T>C; p.W1887R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5313A>G; p.Q1771Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.13509A>G; p.K4503K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13509A>G; p.K4503K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6899G>A; p.R2300H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9803A>G; p.Q3268R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13787G>T; p.S4596I; |
breast | carcinoma |
c.8020A>T; p.T2674S; |
breast | carcinoma |
c.14260-1G>T; p.?; |
breast | carcinoma |
c.13846C>A; p.P4616T; |
breast | carcinoma |
c.599_600insA; p.N202fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.607A>C; p.T203P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.609A>T; p.T203T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9156G>T; p.M3052I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5313A>G; p.Q1771Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10706C>A; p.P3569H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4843G>A; p.V1615I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13148T>C; p.L4383P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4011delA; p.T1339fs*21; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5156T>C; p.V1719A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3318C>T; p.F1106F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11888C>A; p.P3963Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13226T>C; p.V4409A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3854G>A; p.R1285H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4869A>G; p.A1623A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.14548G>T; p.E4850*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3347A>C; p.N1116T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5146G>A; p.V1716I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5366G>T; p.R1789I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7095G>A; p.T2365T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8734G>A; p.E2912K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.14548G>T; p.E4850*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12277G>T; p.E4093*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.14174G>A; p.R4725Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.509C>G; p.A170G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2360A>C; p.N787T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7789G>A; p.A2597T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9798A>C; p.K3266N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13323G>T; p.K4441N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8658C>T; p.S2886S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2892C>T; p.L964L; |
large_intestine; rectum | NS |
c.6916G>T; p.E2306*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9967G>A; p.V3323I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.13486C>T; p.R4496W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2005G>T; p.E669*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4145G>A; p.R1382Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9063A>C; p.E3021D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.11698G>T; p.E3900*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.12780A>G; p.R4260R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.14071-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8403T>C; p.S2801S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.14309G>A; p.C4770Y; |
breast | carcinoma |
c.7036T>A; p.C2346S; |
breast | carcinoma |
c.2256C>T; p.C752C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3871C>T; p.R1291W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14166G>T; p.Q4722H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2609G>A; p.R870Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7405A>C; p.T2469P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8550C>T; p.V2850V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10293G>A; p.T3431T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11019T>C; p.C3673C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11162A>G; p.H3721R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13140T>G; p.D4380E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2187G>T; p.E729D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3713G>T; p.G1238V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6074C>A; p.T2025N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8604C>T; p.H2868H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13589C>T; p.A4530V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9772G>T; p.V3258F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1413A>G; p.G471G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1967G>T; p.S656I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4036G>T; p.E1346*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4113G>T; p.K1371N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4122T>C; p.N1374N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8159G>A; p.C2720Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8845A>C; p.N2949H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9850C>T; p.R3284C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13616C>T; p.T4539M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13729C>T; p.R4577C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1925C>T; p.A642V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12755C>T; p.S4252F; |
breast | carcinoma |
c.3097A>G; p.T1033A; |
breast | carcinoma |
c.2971T>C; p.S991P; |
breast | carcinoma |
c.1251_1252insA; p.M418fs*8; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1224G>T; p.K408N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1964A>C; p.K655T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3224G>A; p.R1075Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3259G>A; p.D1087N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10294A>C; p.I3432L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12493C>A; p.L4165I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4145G>A; p.R1382Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11315C>T; p.S3772L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13960C>T; p.R4654*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5283T>C; p.L1761L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1609G>T; p.E537*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1859C>T; p.S620F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7680C>T; p.S2560S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9589T>C; p.W3197R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12286C>A; p.Q4096K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13198C>T; p.R4400W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14328T>C; p.D4776D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1006G>A; p.V336I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2504G>A; p.R835Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11801G>A; p.R3934H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12712G>A; p.A4238T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2967A>G; p.E989E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2103G>A; p.P701P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6380G>T; p.R2127I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.13509A>G; p.K4503K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13509A>G; p.K4503K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9023T>C; p.M3008T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.11923C>T; p.Q3975*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2357C>A; p.S786*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4581C>A; p.V1527V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1445G>A; p.S482N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1923A>G; p.K641K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3224G>A; p.R1075Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7399G>T; p.D2467Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11338C>T; p.L3780L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5366G>T; p.R1789I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4145G>A; p.R1382Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5857G>A; p.A1953T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14087A>G; p.Q4696R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1015G>A; p.E339K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12479C>T; p.A4160V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13487G>A; p.R4496Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8928G>A; p.S2976S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5298T>C; p.A1766A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2353G>T; p.E785*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4301_4303delATA; p.N1435delN; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14290G>T; p.V4764F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14296A>T; p.I4766L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2286A>G; p.Q762Q; |
breast | carcinoma |
c.2566A>G; p.I856V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5588G>A; p.R1863H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.811G>A; p.G271R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2308_2310delAAT; p.N770delN; |
breast | carcinoma |
c.6321A>G; p.E2107E; |
urinary_tract; bladder | carcinoma |
c.5618T>G; p.I1873S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5143G>T; p.A1715S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6349G>T; p.V2117F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3455A>G; p.D1152G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10258T>G; p.F3420V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13133G>A; p.R4378Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14194C>T; p.R4732*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6515T>C; p.V2172A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8482A>T; p.T2828S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2609G>A; p.R870Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2658G>T; p.K886N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8669G>A; p.R2890Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8267C>G; p.P2756R; |
urinary_tract; bladder | carcinoma |
c.8296C>G; p.L2766V; |
urinary_tract; bladder | carcinoma |
c.10882G>C; p.D3628H; |
urinary_tract; bladder | carcinoma |
c.13965C>T; p.F4655F; |
breast | carcinoma |
c.13509A>G; p.K4503K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6592+2T>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7167A>G; p.G2389G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2658G>T; p.K886N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2170A>C; p.K724Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12068C>A; p.S4023Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13189G>A; p.E4397K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13979A>C; p.Y4660S; |
prostate | carcinoma; adenocarcinoma |
c.3350T>C; p.I1117T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.14196A>G; p.R4732R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7588A>T; p.T2530S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3605C>T; p.T1202M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9023T>C; p.M3008T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4051C>A; p.L1351I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10725T>C; p.H3575H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12759T>C; p.A4253A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2061C>T; p.Y687Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.13349G>A; p.R4450H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9022A>G; p.M3008V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4818G>A; p.S1606S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5026G>A; p.V1676M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12035T>C; p.V4012A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9317T>C; p.L3106P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5953A>T; p.N1985Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.523T>C; p.S175P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4163T>G; p.I1388S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8521G>T; p.E2841*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8815G>A; p.E2939K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9204A>G; p.R3068R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12718G>T; p.E4240*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13745C>A; p.A4582D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.14195G>A; p.R4732Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6872G>A; p.R2291H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7561T>C; p.Y2521H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10258T>C; p.F3420L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8838G>T; p.V2946V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3653G>T; p.R1218L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12686A>G; p.D4229G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5167G>A; p.E1723K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2574G>A; p.S858S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3309T>C; p.H1103H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2763A>C; p.E921D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5345G>A; p.R1782Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7604C>A; p.P2535H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5203delC; p.P1736fs*17; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13851G>T; p.A4617A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11594C>T; p.T3865I; |
breast | carcinoma |
c.12190A>G; p.T4064A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10795G>A; p.A3599T; |
urinary_tract; bladder | carcinoma |
c.4499G>A; p.S1500N; |
urinary_tract; bladder | carcinoma |
c.2263G>A; p.E755K; |
urinary_tract; bladder | carcinoma |
c.11479C>T; p.Q3827*; |
urinary_tract; bladder | carcinoma |
c.12614C>T; p.S4205L; |
urinary_tract; bladder | carcinoma |
c.10453_10454GG>AT; p.G3485I; |
urinary_tract; bladder | carcinoma |
c.1111A>G; p.T371A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2060A>G; p.Y687C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6186C>G; p.L2062L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1149T>C; p.D383D; |
urinary_tract; bladder | carcinoma |
c.11473T>C; p.F3825L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5313A>G; p.Q1771Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13507A>T; p.K4503*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13180G>T; p.A4394S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4214delC; p.R1406fs*3; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5313A>G; p.Q1771Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1342G>A; p.D448N; |
urinary_tract; bladder | carcinoma |
c.4662C>T; p.F1554F; |
urinary_tract; bladder | carcinoma |
c.1254G>A; p.M418I; |
urinary_tract; bladder | carcinoma |
c.10416G>T; p.M3472I; |
urinary_tract; bladder | carcinoma |
c.14138G>T; p.R4713L; |
urinary_tract; bladder | carcinoma |
c.542T>C; p.V181A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11086A>G; p.S3696G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11951C>T; p.A3984V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5313A>G; p.Q1771Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.10750delA; p.K3585fs*8; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.13507A>G; p.K4503E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4252G>T; p.D1418Y; |
urinary_tract; bladder | carcinoma |
c.4394G>A; p.G1465E; |
urinary_tract; bladder | carcinoma |
c.4510G>A; p.D1504N; |
urinary_tract; bladder | carcinoma |
c.2577C>G; p.L859L; |
urinary_tract; bladder | carcinoma |
c.11572C>T; p.L3858F; |
urinary_tract; bladder | carcinoma |
c.11575C>T; p.H3859Y; |
urinary_tract; bladder | carcinoma |
c.11608C>G; p.L3870V; |
urinary_tract; bladder | carcinoma |
c.5571G>T; p.K1857N; |
prostate | carcinoma |
c.8704C>T; p.R2902C; |
skin | malignant_melanoma |
c.11153T>C; p.L3718S; |
skin | malignant_melanoma |
c.4792T>C; p.S1598P; |
skin | malignant_melanoma |
c.10597C>T; p.P3533S; |
skin | malignant_melanoma |
c.6871C>T; p.R2291C; |
skin | malignant_melanoma |
c.7667C>T; p.S2556L; |
skin | malignant_melanoma |
c.5663A>G; p.E1888G; |
skin | malignant_melanoma |
c.14046T>G; p.N4682K; |
skin | malignant_melanoma |
c.9143C>T; p.S3048F; |
skin | malignant_melanoma |
c.6382T>C; p.S2128P; |
skin | malignant_melanoma |
c.7627C>T; p.P2543S; |
skin | malignant_melanoma |
c.6871C>T; p.R2291C; |
skin; mucosal | malignant_melanoma |
c.4805T>G; p.V1602G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6707T>C; p.V2236A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2170A>G; p.K724E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |