| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 259266 |
Name | ASPM |
Synonymous | ASP|Calmbp1|MCPH5;asp (abnormal spindle) homolog, microcephaly associated (Drosophila);ASPM;asp (abnormal spindle) homolog, microcephaly associated (Drosophila) |
Definition | abnormal spindle-like microcephaly-associated protein |
Position | 1q31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ASPM | ||
PCGP somatic mutation [Top] | ||
There is no record for ASPM | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.6659A>T; p.Q2220L; |
liver | carcinoma; hepatocellular_carcinoma |
c.6175A>C; p.T2059P; |
thyroid | carcinoma; medullary_carcinoma |
c.5801G>C; p.W1934S; |
lung | carcinoma; small_cell_carcinoma |
c.688G>A; p.E230K; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.9584T>A; p.F3195Y; |
NS | malignant_melanoma |
c.9584T>A; p.F3195Y; |
NS | malignant_melanoma |
c.4153A>G; p.I1385V; |
lung | carcinoma; small_cell_carcinoma |
c.4484A>C; p.Q1495P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.749T>G; p.L250R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7987G>A; p.A2663T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5738C>T; p.A1913V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8986C>T; p.R2996W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9830-8delt; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8048A>G; p.K2683R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7084G>A; p.V2362I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7382C>T; p.A2461V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10374A>C; p.E3458D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9240A>T; p.K3080N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3491G>A; p.R1164H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2752G>A; p.E918K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4829T>A; p.V1610D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5448A>T; p.K1816N; |
lung | carcinoma; small_cell_carcinoma |
c.7640G>A; p.R2547K; |
pancreas | carcinoma |
c.1594A>T; p.I532L; |
pancreas | carcinoma |
c.8263A>G; p.R2755G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.217G>A; p.E73K; |
liver | carcinoma |
c.4425T>C; p.Y1475Y; |
liver | carcinoma |
c.5047_5053delATAAAAT; p.I1683fs*7; |
liver | carcinoma; hepatocellular_carcinoma |
c.9328C>T; p.H3110Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6931G>A; p.V2311I; |
NS | NS |
c.10115C>T; p.T3372I; |
oesophagus | carcinoma; adenocarcinoma |
c.6187T>C; p.Y2063H; |
oesophagus | carcinoma; adenocarcinoma |
c.5723T>G; p.F1908C; |
oesophagus | carcinoma; adenocarcinoma |
c.9254T>C; p.I3085T; |
oesophagus | carcinoma; adenocarcinoma |
c.8288_8289delAG; p.E2763fs*8; |
oesophagus | carcinoma; adenocarcinoma |
c.9164C>A; p.A3055D; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.5586G>C; p.K1862N; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1216A>G; p.T406A; |
oesophagus | carcinoma; adenocarcinoma |
c.1250A>G; p.N417S; |
oesophagus | carcinoma; adenocarcinoma |
c.10128G>T; p.L3376F; |
lung | carcinoma; large_cell_carcinoma |
c.5186G>T; p.R1729L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7229C>T; p.S2410F; |
lung | carcinoma; adenocarcinoma |
c.4121C>T; p.S1374L; |
lung | carcinoma; adenocarcinoma |
c.50A>T; p.E17V; |
lung | carcinoma; non_small_cell_carcinoma |
c.3397A>G; p.N1133D; |
liver | carcinoma |
c.5225_5226insGATA; p.Y1742fs*1; |
liver | carcinoma |
c.8397A>C; p.K2799N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4090A>G; p.R1364G; |
liver | carcinoma; hepatocellular_carcinoma |
c.3742-3delt; p.?; |
liver | carcinoma |
c.8070G>T; p.R2690R; |
liver | carcinoma |
c.4875T>C; p.V1625V; |
liver | carcinoma |
c.2625A>G; p.R875R; |
liver | carcinoma |
c.5414C>A; p.A1805D; |
large_intestine; colon | carcinoma |
c.3463T>G; p.Y1155D; |
large_intestine; colon | carcinoma |
c.2625A>G; p.R875R; |
liver | carcinoma |
c.7640G>A; p.R2547K; |
pancreas | carcinoma; ductal_carcinoma |
c.9424A>T; p.N3142Y; |
ovary | carcinoma |
c.10193G>A; p.R3398H; |
pancreas | other; adenoma |
c.7174C>T; p.Q2392*; |
skin; leg | malignant_melanoma |
c.7174C>T; p.Q2392*; |
skin; leg | malignant_melanoma |
c.4975G>T; p.V1659F; |
lung | carcinoma; adenocarcinoma |
c.9871G>T; p.A3291S; |
lung | carcinoma; adenocarcinoma |
c.9870G>T; p.M3290I; |
lung | carcinoma; adenocarcinoma |
c.3310G>A; p.G1104S; |
lung | carcinoma; adenocarcinoma |
c.8551G>A; p.V2851M; |
lung | carcinoma; adenocarcinoma |
c.3116G>T; p.R1039M; |
lung | carcinoma; adenocarcinoma |
c.6143T>A; p.V2048D; |
lung | carcinoma; adenocarcinoma |
c.3146G>T; p.W1049L; |
lung | carcinoma; adenocarcinoma |
c.7540T>A; p.Y2514N; |
lung | carcinoma; adenocarcinoma |
c.5849C>T; p.A1950V; |
lung | carcinoma; adenocarcinoma |
c.9616A>G; p.S3206G; |
lung | carcinoma; adenocarcinoma |
c.7167G>T; p.V2389V; |
lung | carcinoma; adenocarcinoma |
c.5672G>T; p.R1891L; |
lung | carcinoma; adenocarcinoma |
c.8560A>G; p.R2854G; |
lung | carcinoma; adenocarcinoma |
c.10117T>G; p.C3373G; |
lung | carcinoma; adenocarcinoma |
c.5000G>T; p.R1667L; |
lung | carcinoma; adenocarcinoma |
c.6581C>T; p.T2194I; |
lung | carcinoma; adenocarcinoma |
c.2101C>T; p.Q701*; |
lung | carcinoma; adenocarcinoma |
c.6335A>T; p.H2112L; |
lung | carcinoma; adenocarcinoma |
c.7063C>G; p.Q2355E; |
lung | carcinoma; adenocarcinoma |
c.3056G>T; p.R1019L; |
lung | carcinoma; adenocarcinoma |
c.7698G>T; p.M2566I; |
lung | carcinoma; adenocarcinoma |
c.6452G>C; p.R2151T; |
lung | carcinoma; adenocarcinoma |
c.790G>T; p.A264S; |
lung | carcinoma; adenocarcinoma |
c.10368G>T; p.M3456I; |
lung | carcinoma; adenocarcinoma |
c.4143A>G; p.I1381M; |
lung | carcinoma; adenocarcinoma |
c.6879G>C; p.Q2293H; |
lung | carcinoma; adenocarcinoma |
c.6990G>T; p.R2330S; |
lung | carcinoma; adenocarcinoma |
c.244T>G; p.F82V; |
lung | carcinoma; adenocarcinoma |
c.980G>T; p.G327V; |
lung | carcinoma; adenocarcinoma |
c.4083T>A; p.Y1361*; |
breast | carcinoma |
c.4264T>C; p.S1422P; |
breast | carcinoma |
c.5671C>T; p.R1891W; |
skin; extremity | malignant_melanoma |
c.7985C>T; p.T2662I; |
skin; extremity | malignant_melanoma |
c.4441_4443delTTA; p.L1481delL; |
skin; scalp | malignant_melanoma |
c.6919C>T; p.Q2307*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.4828G>A; p.V1610I; |
autonomic_ganglia | neuroblastoma |
c.2922T>G; p.C974W; |
ovary | carcinoma |
c.5759T>C; p.F1920S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.5149delA; p.I1717fs*1; |
ovary | carcinoma; serous_carcinoma |
c.9633T>C; p.I3211I; |
prostate | carcinoma |
c.7282A>T; p.I2428F; |
prostate | carcinoma |
c.2306C>T; p.A769V; |
breast | carcinoma |
c.7050A>G; p.L2350L; |
liver | carcinoma |
c.2560C>T; p.R854C; |
liver | carcinoma |
c.6786G>T; p.M2262I; |
lung | carcinoma; small_cell_carcinoma |
c.1731C>T; p.S577S; |
lung | carcinoma; small_cell_carcinoma |
c.7380A>T; p.A2460A; |
lung | carcinoma; small_cell_carcinoma |
c.121C>A; p.L41I; |
lung | carcinoma; small_cell_carcinoma |
c.10314delG; p.T3439fs*3; |
lung | carcinoma; small_cell_carcinoma |
c.10313G>T; p.R3438M; |
lung | carcinoma; small_cell_carcinoma |
c.5020G>T; p.E1674*; |
lung | carcinoma; small_cell_carcinoma |
c.9443A>C; p.Q3148P; |
lung | carcinoma; small_cell_carcinoma |
c.8448G>C; p.R2816S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.8287G>A; p.E2763K; |
large_intestine; colon | adenoma |
c.3671T>G; p.V1224G; |
prostate | adenoma |
c.8986C>T; p.R2996W; |
endometrium | carcinoma; serous_carcinoma |
c.3875G>C; p.R1292T; |
prostate | carcinoma |
c.2307A>C; p.A769A; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4829T>C; p.V1610A; 1:195340175-195340175 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4829T>C; p.V1610A; 1:195340175-195340175 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2647T>C; p.S883P; 1:195365053-195365053 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2647T>C; p.S883P; 1:195365053-195365053 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.646G>A; p.E216K; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2307A>C; p.A769A; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2307A>C; p.A769A; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2307A>C; p.A769A; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2307A>C; p.A769A; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10338G>C; p.K3446N; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.7725G>A; p.K2575K; 1:195337279-195337279 |
ovary | carcinoma; serous_carcinoma |
c.2448G>C; p.L816L; |
lung | carcinoma; adenocarcinoma |
c.5236A>C; p.K1746Q; |
lung | carcinoma; adenocarcinoma |
c.5366A>C; p.K1789T; |
lung | carcinoma; adenocarcinoma |
c.3518A>C; p.Q1173P; |
lung | carcinoma; adenocarcinoma |
c.7691A>G; p.Y2564C; |
lung | carcinoma; adenocarcinoma |
c.5739C>T; p.A1913A; |
lung | carcinoma; adenocarcinoma |
c.2611C>T; p.P871S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2612C>T; p.P871L; |
lung | carcinoma; squamous_cell_carcinoma |
c.9787T>A; p.Y3263N; |
lung | carcinoma; squamous_cell_carcinoma |
c.5801G>T; p.W1934L; |
lung | carcinoma; squamous_cell_carcinoma |
c.5156C>T; p.A1719V; |
ovary | carcinoma; serous_carcinoma |
c.855T>A; p.N285K; |
lung | carcinoma; squamous_cell_carcinoma |
c.5769A>G; p.A1923A; |
lung | carcinoma; squamous_cell_carcinoma |
c.6288A>T; p.T2096T; |
lung | carcinoma; squamous_cell_carcinoma |
c.9526G>C; p.E3176Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.6332G>A; p.R2111K; 1:195338672-195338672 |
ovary | carcinoma; serous_carcinoma |
c.7304T>C; p.I2435T; 1:195337700-195337700 |
ovary | carcinoma; serous_carcinoma |
c.6376A>T; p.M2126L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7598C>T; p.S2533F; |
lung | carcinoma; squamous_cell_carcinoma |
c.6102G>T; p.M2034I; |
lung | carcinoma; squamous_cell_carcinoma |
c.4214G>T; p.R1405L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3612G>T; p.E1204D; |
lung | carcinoma; squamous_cell_carcinoma |
c.4149G>A; p.M1383I; |
lung | carcinoma; adenocarcinoma |
c.8601G>T; p.Q2867H; |
lung | carcinoma; squamous_cell_carcinoma |
c.10144A>T; p.T3382S; |
lung | carcinoma; adenocarcinoma |
c.8315A>G; p.Q2772R; |
lung | carcinoma; adenocarcinoma |
c.4072T>G; p.W1358G; |
lung | carcinoma; adenocarcinoma |
c.6439C>A; p.Q2147K; |
lung | carcinoma; adenocarcinoma |
c.2035A>G; p.R679G; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.6784A>C; p.M2262L; |
lung | carcinoma; adenocarcinoma |
c.719C>T; p.S240F; |
lung | carcinoma; adenocarcinoma |
c.6623A>T; p.Y2208F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7595A>T; p.H2532L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.684C>T; p.F228F; |
lung | carcinoma; squamous_cell_carcinoma |
c.6015G>T; p.R2005S; |
lung | carcinoma; squamous_cell_carcinoma |
c.5124C>G; p.I1708M; |
lung | carcinoma; adenocarcinoma |
c.9237T>A; p.F3079L; |
lung | carcinoma; adenocarcinoma |
c.398A>G; p.Q133R; |
lung | carcinoma; adenocarcinoma |
c.4898G>C; p.R1633P; |
lung | carcinoma; adenocarcinoma |
c.1792G>C; p.E598Q; |
lung | carcinoma; adenocarcinoma |
c.817G>T; p.E273*; |
lung | carcinoma; adenocarcinoma |
c.9660G>T; p.W3220C; |
lung | carcinoma; adenocarcinoma |
c.6353G>T; p.R2118M; |
lung | carcinoma; adenocarcinoma |
c.1858G>C; p.V620L; |
lung | carcinoma; adenocarcinoma |
c.7865A>T; p.Q2622L; |
lung | carcinoma; adenocarcinoma |
c.8295G>T; p.K2765N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2229T>A; p.P743P; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.876G>A; p.E292E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7177G>T; p.A2393S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9189A>T; p.I3063I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.297+1G>T; p.?; 1:195381893-195381893 |
ovary | carcinoma; serous_carcinoma |
c.8742C>T; p.I2914I; |
lung | carcinoma; squamous_cell_carcinoma |
c.4065G>A; p.Q1355Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.8892G>T; p.W2964C; |
lung | carcinoma; adenocarcinoma |
c.8402C>T; p.S2801F; |
lung | carcinoma; adenocarcinoma |
c.10218A>T; p.T3406T; |
lung | carcinoma; squamous_cell_carcinoma |
c.10219G>T; p.A3407S; |
lung | carcinoma; squamous_cell_carcinoma |
c.8094C>G; p.F2698L; |
lung | carcinoma; squamous_cell_carcinoma |
c.6671G>C; p.W2224S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2173G>T; p.V725L; |
lung | carcinoma; adenocarcinoma |
c.101C>G; p.S34C; |
lung | carcinoma; adenocarcinoma |
c.8735G>C; p.S2912T; |
lung | carcinoma; adenocarcinoma |
c.3961G>T; p.V1321F; |
lung | carcinoma; adenocarcinoma |
c.4719A>G; p.R1573R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7606G>T; p.V2536F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6957G>A; p.Q2319Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4704A>T; p.S1568S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1287G>A; p.W429*; |
lung | carcinoma; adenocarcinoma |
c.6178A>G; p.K2060E; |
lung | carcinoma; adenocarcinoma |
c.7540T>A; p.Y2514N; |
lung | carcinoma; adenocarcinoma |
c.4294A>C; p.R1432R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3481A>T; p.I1161L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4457A>G; p.Y1486C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9262G>A; p.A3088T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2911G>T; p.D971Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8760T>C; p.S2920S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8405G>T; p.G2802V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.826G>T; p.V276L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2456A>G; p.Y819C; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.8191G>A; p.E2731K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2247G>A; p.E749E; |
lung | carcinoma; adenocarcinoma |
c.3496A>T; p.T1166S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8372G>T; p.G2791V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8876G>T; p.C2959F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.10179delC; p.V3395fs*18; |
breast | carcinoma |
c.1563C>A; p.L521L; |
breast | carcinoma |
c.6551G>A; p.R2184Q; |
breast | carcinoma |
c.2498G>A; p.G833E; |
breast | carcinoma |
c.122_123delTC; p.L41fs*30; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8917G>T; p.E2973*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.415A>C; p.N139H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4898G>A; p.R1633H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7305T>C; p.I2435I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5039delA; p.N1680fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7305T>C; p.I2435I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5149_5150insA; p.I1717fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1190delT; p.L397fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2647T>C; p.S883P; 1:195365053-195365053 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4849C>T; p.R1617*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1780A>G; p.T594A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7917_7921delAATAA; p.I2640fs*7; |
breast | carcinoma |
c.8884C>G; p.Q2962E; |
breast | carcinoma |
c.8811A>G; p.I2937M; |
breast | carcinoma |
c.8045G>A; p.R2682Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4732C>T; p.R1578*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4848C>T; p.F1616F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1469G>A; p.R490H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2561G>A; p.R854H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10428T>G; p.P3476P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6074T>C; p.V2025A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5149delA; p.I1717fs*1; |
large_intestine; colon | NS |
c.4309C>T; p.R1437C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8313C>T; p.N2771N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3740delA; p.K1247fs*21; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5537C>A; p.S1846Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5009T>C; p.V1670A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2500G>T; p.E834*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.918G>T; p.L306F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5384G>T; p.R1795M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.679G>A; p.A227T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9578G>T; p.R3193L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5939A>G; p.Y1980C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4400C>T; p.S1467F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7258T>C; p.S2420P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6412A>G; p.T2138A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9831G>A; p.E3277E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2482C>G; p.L828V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9094G>A; p.A3032T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7896G>T; p.Q2632H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3983G>T; p.R1328I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3979C>T; p.R1327*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2013delA; p.K671fs*3; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2647T>C; p.S883P; 1:195365053-195365053 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1680C>T; p.N560N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8228G>A; p.R2743Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3155C>T; p.A1052V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1668G>T; p.K556N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3863G>A; p.R1288H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9984+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9638C>T; p.A3213V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9541C>T; p.R3181*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9355C>A; p.L3119M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5000G>A; p.R1667H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4953G>A; p.M1651I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.626A>C; p.N209T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7085T>C; p.V2362A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10274C>T; p.S3425F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9940G>A; p.E3314K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6235G>T; p.G2079C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5811A>G; p.G1937G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4467T>G; p.S1489S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3197T>G; p.L1066*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2603C>A; p.P868H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3540T>C; p.N1180N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9319C>T; p.R3107*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2299C>T; p.R767C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.728G>A; p.R243Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9151C>T; p.R3051W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6383A>T; p.K2128I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4732C>T; p.R1578*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4495C>T; p.R1499W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3938G>T; p.R1313I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9461G>T; p.R3154I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9368G>T; p.R3123I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8467A>C; p.K2823Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5603G>T; p.R1868I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2752G>A; p.E918K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2500G>A; p.E834K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2474G>A; p.R825Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2098G>A; p.E700K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1969A>C; p.K657Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9923G>A; p.R3308H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5304G>A; p.R1768R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4369C>T; p.H1457Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1468C>T; p.R490C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.304G>T; p.E102*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2649C>T; p.S883S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8089T>C; p.S2697P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7544G>A; p.R2515Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6166G>A; p.A2056T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1896G>T; p.E632D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2647T>C; p.S883P; 1:195365053-195365053 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2824C>T; p.R942C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9645G>A; p.W3215*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8953C>A; p.Q2985K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1845G>T; p.K615N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8519C>A; p.A2840D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9286C>T; p.R3096*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9189A>T; p.I3063I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7187G>T; p.R2396M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6323G>A; p.R2108K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4897C>T; p.R1633C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3996G>A; p.Q1332Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2377C>T; p.R793W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1837G>A; p.A613T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.728G>A; p.R243Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5568A>G; p.R1856R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9449G>T; p.W3150L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.975T>C; p.S325S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9454C>T; p.R3152*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4504C>A; p.Q1502K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3010C>T; p.Q1004*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1252G>A; p.E418K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9969G>A; p.L3323L; |
breast | carcinoma |
c.4136C>T; p.S1379F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9577C>T; p.R3193C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6232C>T; p.R2078*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7082C>T; p.S2361F; |
breast | carcinoma |
c.3996G>C; p.Q1332H; |
breast | carcinoma |
c.9698G>A; p.R3233Q; |
cervix | carcinoma; squamous_cell_carcinoma |
c.234G>A; p.K78K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9549G>C; p.R3183S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3984A>G; p.R1328R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3901T>C; p.L1301L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3847A>G; p.K1283E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3845T>C; p.L1282P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8099G>A; p.R2700Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7346A>G; p.H2449R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10112A>C; p.K3371T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8917G>T; p.E2973*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8908G>A; p.A2970T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8336G>T; p.R2779I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7771A>C; p.K2591Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7056G>T; p.M2352I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6989G>T; p.R2330M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6043C>A; p.H2015N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5603G>T; p.R1868I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1366G>T; p.E456*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8188A>C; p.T2730P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4495C>T; p.R1499W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1153G>C; p.E385Q; |
urinary_tract; bladder | carcinoma |
c.4508C>T; p.A1503V; |
urinary_tract; bladder | carcinoma |
c.9421G>A; p.V3141I; |
breast | carcinoma |
c.4968C>G; p.L1656L; |
breast | carcinoma |
c.298-1G>A; p.?; |
breast | carcinoma |
c.5628delA; p.A1877fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5615_5616insT; p.L1872fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6380T>C; p.F2127S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4009A>C; p.M1337L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1824G>A; p.E608E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3165T>C; p.F1055F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7724A>G; p.K2575R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3146G>A; p.W1049*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2993C>T; p.P998L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2647T>C; p.S883P; 1:195365053-195365053 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7723A>G; p.K2575E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4829T>C; p.V1610A; 1:195340175-195340175 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7305T>C; p.I2435I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1573G>T; p.V525L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4474G>A; p.V1492I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6144C>A; p.V2048V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4251T>C; p.Y1417Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1552A>G; p.K518E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7010C>T; p.A2337V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10292T>G; p.F3431C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6305C>A; p.S2102Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5302C>T; p.R1768W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3515C>T; p.T1172M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8392T>C; p.Y2798H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5031C>T; p.S1677S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10095C>T; p.G3365G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5964G>A; p.K1988K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7305T>C; p.I2435I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1320A>T; p.E440D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2647T>C; p.S883P; 1:195365053-195365053 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8379G>A; p.M2793I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6331A>G; p.R2111G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10376T>C; p.I3459T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7782G>A; p.Q2594Q; |
urinary_tract; bladder | carcinoma |
c.9842G>A; p.R3281K; |
urinary_tract; bladder | carcinoma |
c.6539T>A; p.V2180E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7724A>G; p.K2575R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6222G>A; p.Q2074Q; |
cervix | carcinoma; squamous_cell_carcinoma |
c.7137G>A; p.Q2379Q; |
cervix | carcinoma; squamous_cell_carcinoma |
c.6331A>G; p.R2111G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5184G>T; p.M1728I; |
breast | carcinoma |
c.2188C>A; p.L730I; |
breast | carcinoma |
c.571C>T; p.P191S; |
urinary_tract; bladder | carcinoma |
c.5047A>G; p.I1683V; |
prostate | carcinoma; adenocarcinoma |
c.2034C>G; p.P678P; |
prostate | carcinoma; adenocarcinoma |
c.10170A>T; p.R3390R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9896T>C; p.I3299T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7857_7858insA; p.Q2620fs*17; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7869A>C; p.E2623D; |
urinary_tract; bladder | carcinoma |
c.5814G>A; p.R1938R; |
urinary_tract; bladder | carcinoma |
c.10177T>C; p.S3393P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6318T>C; p.G2106G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4655A>T; p.K1552I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5149_5150insA; p.I1717fs*24; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3421G>A; p.G1141S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6331A>G; p.R2111G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.8803A>G; p.S2935G; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.9444G>T; p.Q3148H; |
kidney | carcinoma; renal_cell_carcinoma |
c.9546T>A; p.N3182K; |
prostate | carcinoma |
c.2825G>A; p.R942H; |
skin | malignant_melanoma |
c.9033G>A; p.W3011*; |
skin | malignant_melanoma |
c.5879G>A; p.G1960E; |
skin | malignant_melanoma |
c.2571G>A; p.W857*; |
skin; scalp | malignant_melanoma |
c.7205G>C; p.R2402T; |
skin | malignant_melanoma |
c.8756G>A; p.R2919K; |
skin | malignant_melanoma |
c.9730C>T; p.R3244*; |
skin; mucosal | malignant_melanoma |
c.10331+2T>A; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7857delA; p.K2619fs*22; |
stomach | adenocarcinoma |