| Gene ID | 9253 |
| Symbol | NUMBL |
| Synonymous | CAG3A|CTG3a|NBL|NUMB-R|NUMBLIKE|NUMBR|TNRC23 |
| Full name | numb homolog (Drosophila)-like |
| Gene description | numb homolog-like|numb-like protein|numb-related protein |
| Cytoband | 19q13.13-q13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:604018; HGNC:HGNC:8061; Ensembl:ENSG00000105245; HPRD:04931; Vega:OTTHUMG00000182627 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.952C>A; p.P318T; 19:40673428-40673428 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1310delACAGCA; p.Q445_Q446delQQ; 19:40667988-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1022A>T; p.Q341L; 19:40673358-40673358 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.83C>T; p.P28L; 19:40686937-40686937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.159G>C; p.K53N; 19:40684507-40684507 |
large_intestine; colon | adenoma | Substitution - Missense |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
liver | carcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
liver | carcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1299A>G; p.Q433Q; 19:40667999-40667999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.614A>T; p.E205V; 19:40677348-40677348 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.184C>T; p.R62C; 19:40684482-40684482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.945G>T; p.K315N; 19:40673435-40673435 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.720C>T; p.D240D; 19:40677242-40677242 |
ovary | other; neoplasm | Substitution - coding silent |
c.791C>T; p.P264L; 19:40673589-40673589 |
pancreas | carcinoma | Substitution - Missense |
c.578C>G; p.A193G; 19:40677384-40677384 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.173C>T; p.P58L; 19:40684493-40684493 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1203C>T; p.A401A; 19:40668095-40668095 |
skin | malignant_melanoma | Substitution - coding silent |
c.1355delC; p.P452fs*133; 19:40667943-40667943 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.445C>T; p.P149S; 19:40681012-40681012 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.278C>T; p.S93F; 19:40682940-40682940 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1555G>A; p.A519T; 19:40667743-40667743 |
pancreas | carcinoma | Substitution - Missense |
c.1177G>T; p.E393*; 19:40668121-40668121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.610A>G; p.K204E; 19:40677352-40677352 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.400-2A>T; p.?; 19:40681059-40681059 |
lung | carcinoma; adenocarcinoma | Unknown |
c.706C>T; p.R236*; 19:40677256-40677256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.286A>G; p.M96V; 19:40682932-40682932 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.286A>G; p.M96V; 19:40682932-40682932 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.339C>T; p.S113S; 19:40682788-40682788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.371G>T; p.G124V; 19:40682756-40682756 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>A; p.R337H; 19:40673370-40673370 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1146A>C; p.P382P; 19:40669911-40669911 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1314G>A; p.Q438Q; 19:40667984-40667984 |
breast | carcinoma | Substitution - coding silent |
c.1314G>A; p.Q438Q; 19:40667984-40667984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1314G>A; p.Q438Q; 19:40667984-40667984 |
breast | carcinoma | Substitution - coding silent |
c.424G>A; p.E142K; 19:40681033-40681033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1633A>G; p.I545V; 19:40667665-40667665 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.601C>T; p.R201*; 19:40677361-40677361 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.1329A>G; p.Q443Q; 19:40667969-40667969 |
liver | carcinoma | Substitution - coding silent |
c.1329A>G; p.Q443Q; 19:40667969-40667969 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1329A>G; p.Q443Q; 19:40667969-40667969 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.677G>A; p.R226H; 19:40677285-40677285 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1182C>A; p.P394P; 19:40668116-40668116 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.423C>T; p.I141I; 19:40681034-40681034 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.423C>T; p.I141I; 19:40681034-40681034 |
skin | malignant_melanoma | Substitution - coding silent |
c.291C>T; p.H97H; 19:40682927-40682927 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.377G>A; p.R126Q; 19:40682750-40682750 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1171T>C; p.W391R; 19:40668127-40668127 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036+3G>C; p.?; 19:40673341-40673341 |
pancreas | carcinoma | Unknown |
c.789C>G; p.S263S; 19:40673591-40673591 |
ovary | other; neoplasm | Substitution - coding silent |
c.789C>G; p.S263S; 19:40673591-40673591 |
ovary | other; neoplasm | Substitution - coding silent |
c.284G>A; p.G95E; 19:40682934-40682934 |
skin | malignant_melanoma | Substitution - Missense |
c.1179G>A; p.E393E; 19:40668119-40668119 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.338C>T; p.S113F; 19:40682789-40682789 |
skin | malignant_melanoma | Substitution - Missense |
c.338C>T; p.S113F; 19:40682789-40682789 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.338C>T; p.S113F; 19:40682789-40682789 |
skin | malignant_melanoma | Substitution - Missense |
c.874C>T; p.R292W; 19:40673506-40673506 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.604C>T; p.R202W; 19:40677358-40677358 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1305A>G; p.Q435Q; 19:40667993-40667993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.715C>G; p.P239A; 19:40677247-40677247 |
breast | carcinoma | Substitution - Missense |
c.866C>T; p.A289V; 19:40673514-40673514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181C>T; p.P394L; 19:40668117-40668117 |
skin | malignant_melanoma | Substitution - Missense |
c.1708C>T; p.P570S; 19:40667590-40667590 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.627G>A; p.T209T; 19:40677335-40677335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1357G>T; p.V453L; 19:40667941-40667941 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.544G>A; p.E182K; 19:40677418-40677418 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1465C>T; p.P489S; 19:40667833-40667833 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919C>T; p.R307C; 19:40673461-40673461 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.919C>T; p.R307C; 19:40673461-40673461 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1281G>A; p.Q427Q; 19:40668017-40668017 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.138G>A; p.R46R; 19:40684528-40684528 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - coding silent |
c.611A>G; p.K204R; 19:40677351-40677351 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.611A>G; p.K204R; 19:40677351-40677351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.860C>T; p.A287V; 19:40673520-40673520 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.950C>T; p.S317L; 19:40673430-40673430 |
skin | malignant_melanoma | Substitution - Missense |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1326_1328delGCA; p.Q446delQ; 19:40667970-40667972 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.411C>T; p.V137V; 19:40681046-40681046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.411C>T; p.V137V; 19:40681046-40681046 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.411C>T; p.V137V; 19:40681046-40681046 |
skin | malignant_melanoma | Substitution - coding silent |
c.1311G>A; p.Q437Q; 19:40667987-40667987 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1311G>A; p.Q437Q; 19:40667987-40667987 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.483T>C; p.C161C; 19:40680974-40680974 |
thyroid | other; neoplasm | Substitution - coding silent |
c.483T>C; p.C161C; 19:40680974-40680974 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.490G>A; p.G164R; 19:40680967-40680967 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
breast | carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.1305_1307delACA; p.Q446delQ; 19:40667991-40667993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.280C>T; p.R94W; 19:40682938-40682938 |
skin | malignant_melanoma | Substitution - Missense |
c.280C>T; p.R94W; 19:40682938-40682938 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.280C>T; p.R94W; 19:40682938-40682938 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.333A>G; p.R111R; 19:40682794-40682794 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.66C>T; p.P22P; 19:40686954-40686954 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1087C>G; p.L363V; 19:40669970-40669970 |
breast | carcinoma | Substitution - Missense |
c.1317G>A; p.Q439Q; 19:40667981-40667981 |
liver | carcinoma | Substitution - coding silent |
c.1317G>A; p.Q439Q; 19:40667981-40667981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317G>A; p.Q439Q; 19:40667981-40667981 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317G>A; p.Q439Q; 19:40667981-40667981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317G>A; p.Q439Q; 19:40667981-40667981 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317G>A; p.Q439Q; 19:40667981-40667981 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1317G>A; p.Q439Q; 19:40667981-40667981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1745C>T; p.A582V; 19:40667553-40667553 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.448G>C; p.D150H; 19:40681009-40681009 |
NS | NS | Substitution - Missense |
c.28G>A; p.G10R; 19:40686992-40686992 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1323G>A; p.Q441Q; 19:40667975-40667975 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1323G>A; p.Q441Q; 19:40667975-40667975 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1323G>A; p.Q441Q; 19:40667975-40667975 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1323G>A; p.Q441Q; 19:40667975-40667975 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1323G>A; p.Q441Q; 19:40667975-40667975 |
thyroid | other; neoplasm | Substitution - coding silent |
c.271G>C; p.E91Q; 19:40682947-40682947 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1430T>C; p.V477A; 19:40667868-40667868 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.352C>T; p.L118L; 19:40682775-40682775 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.271G>C; p.E91Q; 19:40682947-40682947 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1335_1337delGCA; p.Q446delQ; 19:40667961-40667963 |
breast | carcinoma | Deletion - In frame |
c.1429G>T; p.V477L; 19:40667869-40667869 |
breast | carcinoma | Substitution - Missense |
c.1666C>T; p.R556C; 19:40667632-40667632 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1193C>T; p.P398L; 19:40668105-40668105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.178G>A; p.A60T; 19:40684488-40684488 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1332G>A; p.Q444Q; 19:40667966-40667966 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.333A>C; p.R111R; 19:40682794-40682794 |
skin | malignant_melanoma | Substitution - coding silent |
c.175G>A; p.E59K; 19:40684491-40684491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.453C>T; p.R151R; 19:40681004-40681004 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.185G>A; p.R62H; 19:40684481-40684481 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |