| Gene ID | 11200 |
| Symbol | CHEK2 |
| Synonymous | CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|hCds1 |
| Full name | checkpoint kinase 2 |
| Gene description | CHK2 checkpoint homolog|cds1 homolog|checkpoint-like protein CHK2|serine/threonine-protein kinase Chk2 |
| Cytoband | 22q12.1 |
| Gene type | protein-coding |
| Synonymous | MIM:604373; HGNC:HGNC:16627; Ensembl:ENSG00000183765; HPRD:05084; Vega:OTTHUMG00000151023 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1460A>G; p.Q487R; 22:28694033-28694033 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.410G>A; p.R137Q; 22:28725277-28725277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.134C>T; p.T45M; 22:28734588-28734588 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1015C>T; p.H339Y; 22:28696981-28696981 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.229G>C; p.D77H; 22:28734493-28734493 |
breast | carcinoma | Substitution - Missense |
c.330T>C; p.N110N; 22:28725357-28725357 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1036C>A; p.R346S; 22:28696960-28696960 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.430T>C; p.F144L; 22:28725257-28725257 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036C>A; p.R346S; 22:28696960-28696960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.430T>C; p.F144L; 22:28725257-28725257 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1233G>A; p.W411*; 22:28695736-28695736 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.429C>G; p.H143Q; 22:28725258-28725258 |
thyroid | carcinoma | Substitution - Missense |
c.451G>A; p.G151S; 22:28725118-28725118 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.688G>A; p.A230T; 22:28712013-28712013 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1060T>G; p.L354V; 22:28696936-28696936 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.592+2T>C; p.?; 22:28724975-28724975 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.945_946insG; p.N316fs*2; 22:28699900-28699901 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.753C>G; p.I251M; 22:28711948-28711948 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.753C>G; p.I251M; 22:28711948-28711948 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.544C>T; p.P182S; 22:28725025-28725025 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.30_31insG; p.Q11fs*66; 22:28734691-28734692 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1604G>A; p.R535H; 22:28687925-28687925 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1075G>A; p.E359K; 22:28696921-28696921 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.764A>G; p.K255R; 22:28711937-28711937 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1170C>G; p.Y390*; 22:28695799-28695799 |
thyroid | carcinoma | Substitution - Nonsense |
c.1591G>T; p.E531*; 22:28687938-28687938 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.587A>T; p.N196I; 22:28724982-28724982 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673delA; p.T225fs*10; 22:28719405-28719405 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1210T>G; p.Y404D; 22:28695759-28695759 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1210T>G; p.Y404D; 22:28695759-28695759 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.404A>C; p.K135T; 22:28725283-28725283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.470T>C; p.I157T; 22:28725099-28725099 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1042T>C; p.L348L; 22:28696954-28696954 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1210T>G; p.Y404D; 22:28695759-28695759 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1169A>G; p.Y390C; 22:28695800-28695800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.739G>A; p.A247T; 22:28711962-28711962 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.441C>T; p.F147F; 22:28725246-28725246 |
skin | malignant_melanoma | Substitution - coding silent |
c.394delA; p.R132fs*29; 22:28725293-28725293 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.804C>T; p.L268L; 22:28710048-28710048 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1115C>A; p.S372Y; 22:28695854-28695854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>T; p.D134Y; 22:28725287-28725287 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.539G>A; p.R180H; 22:28725030-28725030 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>TG; p.K373E; 22:28695852-28695853 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1037G>A; p.R346H; 22:28696959-28696959 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.827T>G; p.I276S; 22:28710025-28710025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.326T>G; p.V109G; 22:28725361-28725361 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.711T>G; p.A237A; 22:28711990-28711990 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1556G>A; p.R519Q; 22:28687973-28687973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.564A>T; p.E188D; 22:28725005-28725005 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.461A>G; p.N154S; 22:28725108-28725108 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.736G>T; p.V246L; 22:28711965-28711965 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740C>A; p.A247D; 22:28711961-28711961 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740C>A; p.A247D; 22:28711961-28711961 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.740C>A; p.A247D; 22:28711961-28711961 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1116C>T; p.S372S; 22:28695853-28695853 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.740C>A; p.A247D; 22:28711961-28711961 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.S372S; 22:28695853-28695853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.823G>T; p.E275*; 22:28710029-28710029 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.717G>A; p.E239E; 22:28711984-28711984 |
breast | carcinoma | Substitution - coding silent |
c.1095+2T>C; p.?; 22:28696899-28696899 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.685G>T; p.G229C; 22:28712016-28712016 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1384C>A; p.L462I; 22:28694109-28694109 |
thyroid | carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.1555C>G; p.R519G; 22:28687974-28687974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1149C>T; p.T383T; 22:28695820-28695820 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.T383T; 22:28695820-28695820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.718A>T; p.R240W; 22:28711983-28711983 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.459A>C; p.K153N; 22:28725110-28725110 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>A; p.S356*; 22:28696929-28696929 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1297C>G; p.Q433E; 22:28695205-28695205 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.192G>A; p.E64E; 22:28734530-28734530 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.961G>T; p.E321*; 22:28699885-28699885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.961G>T; p.E321*; 22:28699885-28699885 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.961G>T; p.E321*; 22:28699885-28699885 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.192G>A; p.E64E; 22:28734530-28734530 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1064T>C; p.L355P; 22:28696932-28696932 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1064T>C; p.L355P; 22:28696932-28696932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1211A>G; p.Y404C; 22:28695758-28695758 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.491G>A; p.S164N; 22:28725078-28725078 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.53G>C; p.C18S; 22:28734669-28734669 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036C>T; p.R346C; 22:28696960-28696960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036C>T; p.R346C; 22:28696960-28696960 |
breast | carcinoma | Substitution - Missense |
c.931G>C; p.D311H; 22:28699915-28699915 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.73G>A; p.V25I; 22:28734649-28734649 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1622C>G; p.A541G; 22:28687907-28687907 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087C>T; p.L363F; 22:28696909-28696909 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087C>T; p.L363F; 22:28696909-28696909 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.545C>A; p.P182H; 22:28725024-28725024 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1421G>A; p.R474H; 22:28694072-28694072 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1180G>A; p.E394K; 22:28695789-28695789 |
skin; subungual | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.1038T>C; p.R346R; 22:28696958-28696958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1038T>C; p.R346R; 22:28696958-28696958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1180G>A; p.E394K; 22:28695789-28695789 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.553A>T; p.N185Y; 22:28725016-28725016 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.146C>T; p.S49F; 22:28734576-28734576 |
liver | carcinoma | Substitution - Missense |
c.146C>T; p.S49F; 22:28734576-28734576 |
liver | carcinoma | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141A>G; p.M381V; 22:28695828-28695828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.412A>G; p.T138A; 22:28725275-28725275 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.992T>C; p.M331T; 22:28699854-28699854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.154T>C; p.S52P; 22:28734568-28734568 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.268C>T; p.P90S; 22:28734454-28734454 |
skin | malignant_melanoma | Substitution - Missense |
c.836A>C; p.K279T; 22:28710016-28710016 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.540C>A; p.R180R; 22:28725029-28725029 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1365C>T; p.V455V; 22:28695137-28695137 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1543-1G>T; p.?; 22:28687987-28687987 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.335A>T; p.N112I; 22:28725352-28725352 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>T; p.P536L; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.305G>T; p.G102V; 22:28734417-28734417 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.914A>G; p.E305G; 22:28699932-28699932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.557A>G; p.N186S; 22:28725012-28725012 |
thyroid | carcinoma | Substitution - Missense |
c.278G>T; p.W93L; 22:28734444-28734444 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1173G>T; p.L391F; 22:28695796-28695796 |
thyroid | carcinoma | Substitution - Missense |
c.267C>T; p.T89T; 22:28734455-28734455 |
skin | malignant_melanoma | Substitution - coding silent |
c.1568G>A; p.R523H; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>A; p.R523H; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>A; p.R523H; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.629C>A; p.S210*; 22:28719449-28719449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1568G>A; p.R523H; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1558_1559delAA; p.K520fs*4; 22:28687970-28687971 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1561C>T; p.R521W; 22:28687968-28687968 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1561C>T; p.R521W; 22:28687968-28687968 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1259+1G>C; p.?; 22:28695709-28695709 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1259+1G>C; p.?; 22:28695709-28695709 |
urinary_tract; bladder | carcinoma | Unknown |
c.980A>G; p.Y327C; 22:28699866-28699866 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1438G>A; p.A480T; 22:28694055-28694055 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.922G>C; p.E308Q; 22:28699924-28699924 |
breast | carcinoma | Substitution - Missense |
c.1568G>C; p.R523P; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>C; p.R523P; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>C; p.R523P; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1583A>T; p.E528V; 22:28687946-28687946 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>C; p.R523P; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>C; p.R523P; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>C; p.R523P; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1568G>C; p.R523P; 22:28687961-28687961 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.916G>A; p.G306R; 22:28699930-28699930 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1175C>T; p.A392V; 22:28695794-28695794 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116_1117CA>GT; p.S372>?; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Complex |
c.1116_1117CA>GT; p.S372>?; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Complex |
c.694G>C; p.G232R; 22:28712007-28712007 |
oesophagus | carcinoma | Substitution - Missense |
c.1116_1117CA>GT; p.S372>?; 22:28695852-28695853 |
lung | carcinoma; adenocarcinoma | Complex |
c.1114T>C; p.S372P; 22:28695855-28695855 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036C>G; p.R346G; 22:28696960-28696960 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1174G>T; p.A392S; 22:28695795-28695795 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.869A>C; p.N290T; 22:28703544-28703544 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.703A>C; p.K235Q; 22:28711998-28711998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.326T>C; p.V109A; 22:28725361-28725361 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.609T>G; p.D203E; 22:28719469-28719469 |
breast | carcinoma | Substitution - Missense |
c.1175C>A; p.A392E; 22:28695794-28695794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.398C>A; p.T133K; 22:28725289-28725289 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.1053G>T; p.E351D; 22:28696943-28696943 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.508G>A; p.V170I; 22:28725061-28725061 |
salivary_gland; mouth_floor | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1628T>C; p.L543S; 22:28687901-28687901 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1176G>T; p.A392A; 22:28695793-28695793 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.252A>G; p.E84E; 22:28734470-28734470 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.395G>T; p.R132I; 22:28725292-28725292 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1233G>C; p.W411C; 22:28695736-28695736 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1186C>G; p.L396V; 22:28695783-28695783 |
breast | carcinoma | Substitution - Missense |
c.476A>G; p.Y159C; 22:28725093-28725093 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1193C>G; p.S398C; 22:28695776-28695776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1193C>G; p.S398C; 22:28695776-28695776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1193C>G; p.S398C; 22:28695776-28695776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1193C>G; p.S398C; 22:28695776-28695776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1193C>G; p.S398C; 22:28695776-28695776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1193C>G; p.S398C; 22:28695776-28695776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1193C>G; p.S398C; 22:28695776-28695776 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1542+1G>T; p.?; 22:28689134-28689134 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.461_462insA; p.N154fs*32; 22:28725107-28725108 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1129G>A; p.E377K; 22:28695840-28695840 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.480A>G; p.I160M; 22:28725089-28725089 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1607C>A; p.P536Q; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1607C>A; p.P536Q; 22:28687922-28687922 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
skin | malignant_melanoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
stomach | carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1283C>T; p.S428F; 22:28695219-28695219 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
skin | malignant_melanoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
skin | malignant_melanoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1117A>G; p.K373E; 22:28695852-28695852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.106C>T; p.Q36*; 22:28734616-28734616 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1111C>T; p.H371Y; 22:28695858-28695858 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.275C>T; p.P92L; 22:28734447-28734447 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524T>C; p.V175A; 22:28725045-28725045 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1580C>T; p.A527V; 22:28687949-28687949 |
skin | malignant_melanoma | Substitution - Missense |
c.1037G>T; p.R346L; 22:28696959-28696959 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526G>T; p.G176W; 22:28725043-28725043 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1566C>T; p.P522P; 22:28687963-28687963 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |