| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 545 |
Name | ATR |
Synonymous | FRP1|MEC1|SCKL|SCKL1;ataxia telangiectasia and Rad3 related;ATR;ataxia telangiectasia and Rad3 related |
Definition | FRAP-related protein 1|FRAP-related protein-1|MEC1, mitosis entry checkpoint 1, homolog|Rad3 related protein|ataxia telangiectasia and Rad3-related protein|protein kinase ATR|serine/threonine-protein kinase ATR |
Position | 3q22-q24 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ATR | ||
PCGP somatic mutation [Top] | ||
There is no record for ATR | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1403A>T; p.Q468L; |
liver | carcinoma; hepatocellular_carcinoma |
c.1756A>G; p.I586V; |
liver | carcinoma; hepatocellular_carcinoma |
c.5639C>T; p.S1880F; |
skin; arm | malignant_melanoma |
c.1516C>T; p.H506Y; |
skin; ear | malignant_melanoma |
c.7853G>A; p.G2618E; 3:143651043-143651043 |
lung | carcinoma; adenocarcinoma |
c.6279_6280delAT; p.W2094fs*2; |
liver | carcinoma; hepatocellular_carcinoma |
c.7352A>G; p.Y2451C; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.5942A>T; p.E1981V; |
liver | carcinoma; hepatocellular_carcinoma |
c.5791G>C; p.A1931P; |
lung | carcinoma; small_cell_carcinoma |
c.5378C>A; p.A1793E; |
lung | carcinoma; small_cell_carcinoma |
c.2642A>G; p.K881R; |
skin; upper_arm | malignant_melanoma |
c.3973A>T; p.S1325C; |
lung | carcinoma; small_cell_carcinoma |
c.1442G>A; p.G481D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.877G>T; p.E293*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6384G>T; p.E2128D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4000C>G; p.Q1334E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4081T>G; p.L1361V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5965A>C; p.T1989P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.397C>T; p.L133F; |
skin | malignant_melanoma |
c.2320delA; p.I774fs*5; |
pancreas | carcinoma; acinar_carcinoma |
c.4153-11_4153-10deltt; p.?; |
liver | carcinoma |
c.7192+9A>G; p.?; |
liver | carcinoma |
c.2919T>A; p.N973K; |
large_intestine | carcinoma; adenocarcinoma |
c.3402delT; p.F1134fs*6; |
large_intestine | carcinoma; adenocarcinoma |
c.2079-7delt; p.?; |
large_intestine | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine | carcinoma; adenocarcinoma |
c.5640T>C; p.S1880S; |
NS | carcinoma |
c.2320delA; p.I774fs*5; |
large_intestine | carcinoma; adenocarcinoma |
c.3806A>G; p.Q1269R; |
liver | carcinoma; hepatocellular_carcinoma |
c.6192C>T; p.L2064L; 3:143686701-143686701 |
skin | malignant_melanoma |
c.6192C>T; p.L2064L; 3:143686701-143686701 |
skin | malignant_melanoma |
c.5440_5441insA; p.R1814fs*8; |
oesophagus | carcinoma; adenocarcinoma |
c.5657G>A; p.R1886Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1367T>C; p.M456T; |
oesophagus | carcinoma; adenocarcinoma |
c.5789T>C; p.V1930A; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1674C>G; p.D558E; |
endometrium | carcinoma; serous_carcinoma |
c.7274G>A; p.R2425Q; |
stomach | carcinoma; adenocarcinoma |
c.1776T>A; p.G592G; |
stomach | carcinoma; adenocarcinoma |
c.632T>C; p.M211T; |
stomach | carcinoma; adenocarcinoma |
c.5868C>T; p.Y1956Y; 3:143697923-143697923 |
breast | carcinoma; ductal_carcinoma |
c.5868C>T; p.Y1956Y; 3:143697923-143697923 |
breast | carcinoma; ductal_carcinoma |
c.2320_2321insA; p.I774fs*3; |
liver | carcinoma |
c.7192+9A>G; p.?; |
liver | carcinoma |
c.6552+7G>T; p.?; |
liver | carcinoma |
c.1004T>C; p.M335T; |
liver | carcinoma |
c.2875G>A; p.V959M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1950G>A; p.E650E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1326A>G; p.K442K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.946G>A; p.V316I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2070G>A; p.K690K; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.5351G>A; p.W1784*; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.5377G>A; p.A1793T; |
liver | carcinoma |
c.6279_6280delAT; p.W2094fs*2; |
liver | carcinoma; hepatocellular_carcinoma |
c.6901G>A; p.E2301K; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1488C>T; p.V496V; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.2408A>C; p.K803T; |
skin; leg | malignant_melanoma |
c.4815A>T; p.P1605P; |
lung | carcinoma; adenocarcinoma |
c.4086G>A; p.G1362G; |
lung | carcinoma; adenocarcinoma |
c.7545G>T; p.L2515L; |
lung | carcinoma; adenocarcinoma |
c.5899-1G>C; p.?; |
lung | carcinoma; adenocarcinoma |
c.1338A>G; p.K446K; |
lung | carcinoma; adenocarcinoma |
c.323_324insT; p.R109fs*17; |
lung | carcinoma; adenocarcinoma |
c.2269C>T; p.Q757*; |
lung | carcinoma; adenocarcinoma |
c.2099C>T; p.S700F; |
lung | carcinoma; adenocarcinoma |
c.4957C>T; p.R1653*; |
lung | carcinoma; adenocarcinoma |
c.163C>A; p.L55I; |
lung | carcinoma; adenocarcinoma |
c.6650G>T; p.R2217L; |
lung | carcinoma; adenocarcinoma |
c.7310A>T; p.H2437L; |
lung | carcinoma; adenocarcinoma |
c.5017C>G; p.L1673V; |
lung | carcinoma; adenocarcinoma |
c.7007G>T; p.C2336F; |
lung | carcinoma; adenocarcinoma |
c.5197-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.3831G>C; p.E1277D; |
lung | carcinoma; adenocarcinoma |
c.1802C>T; p.S601F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.1802C>T; p.S601F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.1802C>T; p.S601F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.3073C>T; p.R1025C; |
skin; extremity | malignant_melanoma |
c.6005C>G; p.A2002G; 3:143694737-143694737 |
lung | carcinoma; non_small_cell_carcinoma |
c.6005C>G; p.A2002G; 3:143694737-143694737 |
lung | carcinoma; non_small_cell_carcinoma |
c.7609G>C; p.E2537Q; 3:143659182-143659182 |
breast | carcinoma; ductal_carcinoma |
c.7312G>A; p.E2438K; 3:143660796-143660796 |
breast | carcinoma; lobular_carcinoma |
c.4462G>C; p.A1488P; 3:143716968-143716968 |
lung | carcinoma; squamous_cell_carcinoma |
c.3790_3796delATAAAAG; p.I1264fs*24; 3:143737663-143737669 |
ovary | carcinoma; serous_carcinoma |
c.6698G>T; p.S2233I; 3:143668055-143668055 |
lung | carcinoma; large_cell_carcinoma |
c.387A>G; p.S129S; 3:143764547-143764547 |
stomach | carcinoma; adenocarcinoma |
c.2110A>T; p.K704*; |
breast | carcinoma |
c.2392G>C; p.D798H; |
NS | NS |
c.4235G>A; p.R1412Q; |
liver | carcinoma |
c.80A>G; p.N27S; |
liver | carcinoma |
c.3243G>A; p.L1081L; |
lung | carcinoma; small_cell_carcinoma |
c.7255G>A; p.E2419K; |
lung | carcinoma; small_cell_carcinoma |
c.722G>T; p.S241I; |
lung | carcinoma; small_cell_carcinoma |
c.5545G>A; p.E1849K; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3284C>T; p.S1095L; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2320delA; p.I774fs*5; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.5148G>C; p.R1716S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.7220G>A; p.R2407H; |
breast | carcinoma; ductal_carcinoma |
c.7282C>A; p.L2428I; |
endometrium | carcinoma; serous_carcinoma |
c.4111T>G; p.F1371V; |
endometrium | carcinoma; serous_carcinoma |
c.3777A>C; p.P1259P; |
endometrium | carcinoma; serous_carcinoma |
c.7597C>T; p.R2533*; 3:143659194-143659194 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.7597C>T; p.R2533*; 3:143659194-143659194 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2267C>T; p.S756F; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2267C>T; p.S756F; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3945+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.3769G>C; p.D1257H; |
lung | carcinoma; adenocarcinoma |
c.6443G>A; p.R2148Q; |
lung | carcinoma; adenocarcinoma |
c.2267C>T; p.S756F; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2267C>T; p.S756F; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.6167A>T; p.N2056I; 3:143686726-143686726 |
ovary | carcinoma; serous_carcinoma |
c.7133A>T; p.E2378V; 3:143663531-143663531 |
ovary | carcinoma; serous_carcinoma |
c.315G>T; p.T105T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2488C>A; p.H830N; |
lung | carcinoma; squamous_cell_carcinoma |
c.2490C>T; p.H830H; |
lung | carcinoma; squamous_cell_carcinoma |
c.3541G>T; p.G1181C; |
lung | carcinoma; squamous_cell_carcinoma |
c.3542G>T; p.G1181V; |
lung | carcinoma; squamous_cell_carcinoma |
c.3643G>T; p.V1215L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7226G>C; p.C2409S; |
lung | carcinoma; squamous_cell_carcinoma |
c.6859C>A; p.P2287T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2112G>C; p.K704N; |
ovary | carcinoma; serous_carcinoma |
c.6387T>A; p.H2129Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.7435G>A; p.E2479K; |
lung | carcinoma; squamous_cell_carcinoma |
c.4232G>T; p.S1411I; |
lung | carcinoma; squamous_cell_carcinoma |
c.2746G>C; p.A916P; |
lung | carcinoma; squamous_cell_carcinoma |
c.2864A>G; p.Q955R; |
lung | carcinoma; squamous_cell_carcinoma |
c.6480G>C; p.L2160F; |
lung | carcinoma; adenocarcinoma |
c.2752A>G; p.K918E; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2391A>T; p.E797D; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.7735G>A; p.E2579K; |
lung | carcinoma; adenocarcinoma |
c.7206A>T; p.T2402T; |
lung | carcinoma; squamous_cell_carcinoma |
c.5059G>C; p.D1687H; |
lung | carcinoma; squamous_cell_carcinoma |
c.5778G>C; p.Q1926H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2083A>G; p.K695E; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1162G>A; p.D388N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4551G>A; p.M1517I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2727A>G; p.T909T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5096A>C; p.E1699A; |
lung | carcinoma; adenocarcinoma |
c.7724C>T; p.A2575V; |
breast | carcinoma |
c.4383-2A>G; p.?; |
breast | carcinoma |
c.7761G>T; p.K2587N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6705C>T; p.S2235S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6089C>T; p.A2030V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2002C>T; p.R668W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5440delA; p.R1814fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4629_4631delAGA; p.E1543delE; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.111G>A; p.L37L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4900G>A; p.D1634N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.20A>T; p.E7V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6781C>T; p.P2261S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6016G>T; p.V2006L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7725G>A; p.A2575A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1843G>A; p.A615T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1364A>G; p.D455G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5246T>C; p.L1749P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1006C>T; p.R336W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4940G>A; p.R1647H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3044G>A; p.R1015Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3181G>T; p.E1061*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2259T>C; p.C753C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4806G>T; p.E1602D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.530G>A; p.R177Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.271G>T; p.E91*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7854A>G; p.G2618G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3417G>A; p.L1139L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2965C>T; p.R989C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5316G>A; p.T1772T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3073C>T; p.R1025C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5657G>A; p.R1886Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4138G>T; p.D1380Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6063T>C; p.I2021I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6494C>T; p.A2165V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5171G>T; p.R1724M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1041C>A; p.C347*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7292G>A; p.R2431K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2696A>C; p.K899T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2947G>A; p.D983N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7739C>A; p.T2580N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5801C>A; p.A1934D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5236C>A; p.L1746I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1622C>T; p.T541I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3044G>A; p.R1015Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5032-1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6621C>A; p.S2207S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5492T>G; p.I1831S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4218G>A; p.A1406A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3685G>T; p.E1229*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.893T>G; p.L298R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6308A>C; p.E2103A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3541G>A; p.G1181S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4507C>T; p.R1503*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3600T>G; p.V1200V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2705C>A; p.S902Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7792C>T; p.R2598*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5830C>T; p.L1944F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2777_2778insT; p.S927fs*4; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3507T>C; p.S1169S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3358-2A>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1977C>T; p.A659A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1072C>T; p.P358S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1006C>T; p.R336W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7420G>A; p.G2474R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7547C>T; p.T2516I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6531G>A; p.W2177*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4235G>A; p.R1412Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2051C>A; p.S684Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4201A>G; p.T1401A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2946C>T; p.F982F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4727T>G; p.L1576R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3148G>C; p.E1050Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4809A>G; p.K1603K; |
breast | carcinoma |
c.3245G>A; p.R1082H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1645A>G; p.S549G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7789C>A; p.Q2597K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7411C>A; p.L2471M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6961T>A; p.F2321I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5121T>C; p.L1707L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7777C>A; p.L2593I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7219C>T; p.R2407C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5656C>T; p.R1886*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6277C>G; p.L2093V; |
urinary_tract; bladder | carcinoma |
c.7023C>G; p.F2341L; |
urinary_tract; bladder | carcinoma |
c.4692A>C; p.I1564I; |
urinary_tract; bladder | carcinoma |
c.226A>C; p.M76L; |
breast | carcinoma |
c.7132G>T; p.E2378*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3232G>T; p.E1078*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2116G>T; p.E706*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3431G>A; p.G1144D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7610A>G; p.E2537G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7611A>G; p.E2537E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3736C>T; p.Q1246*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6697A>G; p.S2233G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6005C>T; p.A2002V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1035T>A; p.A345A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6465A>G; p.E2155E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4934C>T; p.S1645F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1544G>A; p.R515H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4213C>A; p.L1405I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4940G>A; p.R1647H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4138G>T; p.D1380Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7313A>G; p.E2438G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7134A>G; p.E2378E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2298C>A; p.F766L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7597C>T; p.R2533*; 3:143659194-143659194 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7599A>G; p.R2533R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5866T>C; p.Y1956H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.219G>A; p.Q73Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6930G>C; p.K2310N; |
urinary_tract; bladder | carcinoma |
c.6192C>T; p.L2064L; 3:143686701-143686701 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7115A>C; p.D2372A; |
cervix | carcinoma; squamous_cell_carcinoma |
c.4666C>G; p.L1556V; |
cervix | carcinoma; squamous_cell_carcinoma |
c.7618A>G; p.M2540V; |
breast | carcinoma |
c.3181G>A; p.E1061K; |
breast | carcinoma |
c.2096A>T; p.D699V; |
breast | carcinoma |
c.7610A>G; p.E2537G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6191T>A; p.L2064H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7133A>G; p.E2378G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7313A>G; p.E2438G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7905G>C; p.Q2635H; |
urinary_tract; bladder | carcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7853G>A; p.G2618E; 3:143651043-143651043 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4185A>G; p.G1395G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2320delA; p.I774fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6224C>T; p.S2075F; |
skin | malignant_melanoma |
c.6329C>T; p.S2110F; |
skin | malignant_melanoma |
c.194C>T; p.S65F; |
skin; neck | malignant_melanoma |
c.7646C>T; p.P2549L; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.387A>G; p.S129S; 3:143764547-143764547 |
stomach | adenocarcinoma |
c.3284C>G; p.S1095*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |