| Gene ID | 2690 |
| Symbol | GHR |
| Synonymous | GHBP|GHIP |
| Full name | growth hormone receptor |
| Gene description | GH receptor|growth hormone binding protein|serum binding protein|somatotropin receptor |
| Cytoband | 5p13-p12 |
| Gene type | protein-coding |
| Synonymous | MIM:600946; HGNC:HGNC:4263; Ensembl:ENSG00000112964; HPRD:02971; Vega:OTTHUMG00000094791 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.158T>A; p.F53Y; 5:42688911-42688911 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.622G>A; p.D208N; 5:42711210-42711210 |
skin | malignant_melanoma | Substitution - Missense |
c.308A>G; p.D103G; 5:42694958-42694958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1003G>A; p.E335K; 5:42718510-42718510 |
skin | malignant_melanoma | Substitution - Missense |
c.1312G>A; p.D438N; 5:42718819-42718819 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.773C>A; p.T258K; 5:42711361-42711361 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.860T>A; p.F287Y; 5:42713504-42713504 |
skin | malignant_melanoma | Substitution - Missense |
c.1171G>A; p.E391K; 5:42718678-42718678 |
skin | malignant_melanoma | Substitution - Missense |
c.1661C>T; p.S554L; 5:42719168-42719168 |
skin | malignant_melanoma | Substitution - Missense |
c.266G>T; p.R89M; 5:42689019-42689019 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.61G>A; p.G21R; 5:42565935-42565935 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1265A>G; p.D422G; 5:42718772-42718772 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1112A>C; p.E371A; 5:42718619-42718619 |
skin | malignant_melanoma | Substitution - Missense |
c.324G>T; p.G108G; 5:42694974-42694974 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.980_981CC>AT; p.A327>?; 5:42718487-42718488 |
lung | carcinoma; adenocarcinoma | Complex |
c.1541G>A; p.C514Y; 5:42719048-42719048 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.904C>T; p.P302S; 5:42718080-42718080 |
skin | malignant_melanoma | Substitution - Missense |
c.904C>T; p.P302S; 5:42718080-42718080 |
skin | malignant_melanoma | Substitution - Missense |
c.904C>T; p.P302S; 5:42718080-42718080 |
skin | malignant_melanoma | Substitution - Missense |
c.904C>T; p.P302S; 5:42718080-42718080 |
skin | malignant_melanoma | Substitution - Missense |
c.52G>T; p.A18S; 5:42565926-42565926 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1797T>C; p.H599H; 5:42719304-42719304 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.505G>T; p.A169S; 5:42699889-42699889 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1621delA; p.K542fs*19; 5:42719128-42719128 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1146C>A; p.G382G; 5:42718653-42718653 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1759G>T; p.G587C; 5:42719266-42719266 |
skin | malignant_melanoma | Substitution - Missense |
c.298G>A; p.E100K; 5:42694948-42694948 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206C>T; p.T69I; 5:42688959-42688959 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.821G>C; p.G274A; 5:42713465-42713465 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1001C>T; p.P334L; 5:42718508-42718508 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.381C>G; p.I127M; 5:42695031-42695031 |
breast | carcinoma | Substitution - Missense |
c.778G>T; p.E260*; 5:42711366-42711366 |
ovary | other; neoplasm | Substitution - Nonsense |
c.137-1G>T; p.?; 5:42688889-42688889 |
lung | carcinoma; adenocarcinoma | Unknown |
c.40G>A; p.G14R; 5:42565914-42565914 |
skin | malignant_melanoma | Substitution - Missense |
c.1510G>A; p.G504S; 5:42719017-42719017 |
skin | malignant_melanoma | Substitution - Missense |
c.40G>A; p.G14R; 5:42565914-42565914 |
skin | malignant_melanoma | Substitution - Missense |
c.1737T>C; p.P579P; 5:42719244-42719244 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1149C>T; p.D383D; 5:42718656-42718656 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1838C>T; p.A613V; 5:42719345-42719345 |
breast | carcinoma | Substitution - Missense |
c.1665C>G; p.H555Q; 5:42719172-42719172 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1512C>T; p.G504G; 5:42719019-42719019 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.372T>G; p.P124P; 5:42695022-42695022 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.840G>T; p.V280V; 5:42713484-42713484 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.561G>A; p.W187*; 5:42699945-42699945 |
skin | malignant_melanoma | Substitution - Nonsense |
c.147_152delGGAGCC; p.K49_P51>N; 5:42688900-42688905 |
lung | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.723C>T; p.G241G; 5:42711311-42711311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.821G>A; p.G274E; 5:42713465-42713465 |
skin; back | malignant_melanoma | Substitution - Missense |
c.430G>A; p.D144N; 5:42695080-42695080 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1197C>T; p.F399F; 5:42718704-42718704 |
skin | malignant_melanoma | Substitution - coding silent |
c.988G>T; p.D330Y; 5:42718495-42718495 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1197C>T; p.F399F; 5:42718704-42718704 |
skin | malignant_melanoma | Substitution - coding silent |
c.1267C>A; p.L423I; 5:42718774-42718774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267C>A; p.L423I; 5:42718774-42718774 |
breast | carcinoma | Substitution - Missense |
c.1864C>A; p.L622I; 5:42719371-42719371 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.211G>A; p.E71K; 5:42688964-42688964 |
skin | malignant_melanoma | Substitution - Missense |
c.1768A>C; p.M590L; 5:42719275-42719275 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275C>T; p.C425C; 5:42718782-42718782 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.940C>A; p.L314I; 5:42718116-42718116 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.248A>G; p.Q83R; 5:42689001-42689001 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1686A>G; p.Q562Q; 5:42719193-42719193 |
ovary | other; neoplasm | Substitution - coding silent |
c.350C>T; p.S117L; 5:42695000-42695000 |
skin | malignant_melanoma | Substitution - Missense |
c.1731G>A; p.G577G; 5:42719238-42719238 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.277G>T; p.E93*; 5:42694927-42694927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1788C>T; p.T596T; 5:42719295-42719295 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.707A>C; p.N236T; 5:42711295-42711295 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.221A>G; p.H74R; 5:42688974-42688974 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.323G>A; p.G108E; 5:42694973-42694973 |
skin | malignant_melanoma | Substitution - Missense |
c.425C>T; p.S142F; 5:42695075-42695075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.425C>T; p.S142F; 5:42695075-42695075 |
skin | malignant_melanoma | Substitution - Missense |
c.702A>T; p.Q234H; 5:42711290-42711290 |
kidney | other; neoplasm | Substitution - Missense |
c.148G>A; p.E50K; 5:42688901-42688901 |
skin | malignant_melanoma | Substitution - Missense |
c.1192G>A; p.D398N; 5:42718699-42718699 |
skin | malignant_melanoma | Substitution - Missense |
c.397G>A; p.G133S; 5:42695047-42695047 |
skin | malignant_melanoma | Substitution - Missense |
c.442C>A; p.Q148K; 5:42699826-42699826 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1075G>A; p.E359K; 5:42718582-42718582 |
breast | carcinoma | Substitution - Missense |
c.1505C>T; p.S502F; 5:42719012-42719012 |
skin | malignant_melanoma | Substitution - Missense |
c.778G>A; p.E260K; 5:42711366-42711366 |
breast | carcinoma | Substitution - Missense |
c.1452C>T; p.I484I; 5:42718959-42718959 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1384G>A; p.E462K; 5:42718891-42718891 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1384G>A; p.E462K; 5:42718891-42718891 |
skin | malignant_melanoma | Substitution - Missense |
c.1156C>T; p.R386C; 5:42718663-42718663 |
oesophagus | carcinoma | Substitution - Missense |
c.1886G>T; p.S629I; 5:42719393-42719393 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1790C>T; p.S597F; 5:42719297-42719297 |
skin | malignant_melanoma | Substitution - Missense |
c.1795C>T; p.H599Y; 5:42719302-42719302 |
skin | malignant_melanoma | Substitution - Missense |
c.616A>G; p.M206V; 5:42700000-42700000 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1790C>T; p.S597F; 5:42719297-42719297 |
skin | malignant_melanoma | Substitution - Missense |
c.616A>G; p.M206V; 5:42700000-42700000 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1685A>C; p.Q562P; 5:42719192-42719192 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630A>C; p.I544L; 5:42719137-42719137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630A>C; p.I544L; 5:42719137-42719137 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1169G>C; p.C390S; 5:42718676-42718676 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.231G>T; p.K77N; 5:42688984-42688984 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.279A>G; p.E93E; 5:42694929-42694929 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1435A>C; p.S479R; 5:42718942-42718942 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1667T>A; p.I556K; 5:42719174-42719174 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.787T>C; p.F263L; 5:42713431-42713431 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.807A>G; p.L269L; 5:42713451-42713451 |
liver | carcinoma | Substitution - coding silent |
c.1683C>T; p.N561N; 5:42719190-42719190 |
skin | malignant_melanoma | Substitution - coding silent |
c.807A>G; p.L269L; 5:42713451-42713451 |
liver | carcinoma | Substitution - coding silent |
c.1080A>G; p.S360S; 5:42718587-42718587 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1080A>G; p.S360S; 5:42718587-42718587 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.132G>A; p.K44K; 5:42629099-42629099 |
skin | malignant_melanoma | Substitution - coding silent |
c.601G>A; p.E201K; 5:42699985-42699985 |
skin | malignant_melanoma | Substitution - Missense |
c.406G>A; p.V136M; 5:42695056-42695056 |
prostate | carcinoma | Substitution - Missense |
c.1874G>A; p.C625Y; 5:42719381-42719381 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.165G>C; p.K55N; 5:42688918-42688918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1470G>T; p.V490V; 5:42718977-42718977 |
liver | carcinoma | Substitution - coding silent |
c.1456T>G; p.F486V; 5:42718963-42718963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1470G>T; p.V490V; 5:42718977-42718977 |
liver | carcinoma | Substitution - coding silent |
c.125G>T; p.G42V; 5:42629092-42629092 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.545A>C; p.D182A; 5:42699929-42699929 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.611G>A; p.W204*; 5:42699995-42699995 |
skin | malignant_melanoma | Substitution - Nonsense |
c.31G>A; p.A11T; 5:42565905-42565905 |
skin | malignant_melanoma | Substitution - Missense |
c.1832C>T; p.A611V; 5:42719339-42719339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1269C>T; p.L423L; 5:42718776-42718776 |
skin | malignant_melanoma | Substitution - coding silent |
c.1522delA; p.K508fs*53; 5:42719029-42719029 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1632C>T; p.I544I; 5:42719139-42719139 |
skin | malignant_melanoma | Substitution - coding silent |
c.471G>A; p.W157*; 5:42699855-42699855 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1A>T; p.M1L; 5:42565875-42565875 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1704C>T; p.T568T; 5:42719211-42719211 |
skin | malignant_melanoma | Substitution - coding silent |
c.532C>T; p.P178S; 5:42699916-42699916 |
skin | malignant_melanoma | Substitution - Missense |
c.532C>T; p.P178S; 5:42699916-42699916 |
skin | malignant_melanoma | Substitution - Missense |
c.1223C>T; p.T408I; 5:42718730-42718730 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.168C>T; p.C56C; 5:42688921-42688921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1063G>A; p.E355K; 5:42718570-42718570 |
skin | malignant_melanoma | Substitution - Missense |
c.36G>T; p.L12L; 5:42565910-42565910 |
pancreas | carcinoma | Substitution - coding silent |
c.1309C>T; p.H437Y; 5:42718816-42718816 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1453G>A; p.D485N; 5:42718960-42718960 |
skin | malignant_melanoma | Substitution - Missense |
c.666G>A; p.V222V; 5:42711254-42711254 |
skin | malignant_melanoma | Substitution - coding silent |
c.1453G>A; p.D485N; 5:42718960-42718960 |
skin | malignant_melanoma | Substitution - Missense |
c.473C>A; p.T158N; 5:42699857-42699857 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1473C>T; p.S491S; 5:42718980-42718980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1772C>T; p.P591L; 5:42719279-42719279 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1584_1585CC>TT; p.L529F; 5:42719091-42719092 |
skin | malignant_melanoma | Substitution - Missense |
c.1584_1585CC>TT; p.L529F; 5:42719091-42719092 |
skin | malignant_melanoma | Substitution - Missense |
c.1688A>T; p.E563V; 5:42719195-42719195 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1054G>A; p.E352K; 5:42718561-42718561 |
skin | malignant_melanoma | Substitution - Missense |
c.757C>T; p.Q253*; 5:42711345-42711345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1517A>G; p.K506R; 5:42719024-42719024 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1553C>T; p.P518L; 5:42719060-42719060 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.58T>C; p.S20P; 5:42565932-42565932 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.58T>C; p.S20P; 5:42565932-42565932 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079C>T; p.S360L; 5:42718586-42718586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.620T>C; p.M207T; 5:42711208-42711208 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.218A>G; p.H73R; 5:42688971-42688971 |
liver | carcinoma | Substitution - Missense |
c.945+1G>A; p.?; 5:42718122-42718122 |
skin | malignant_melanoma | Unknown |
c.1593C>G; p.D531E; 5:42719100-42719100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.170G>A; p.R57H; 5:42688923-42688923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.269A>G; p.N90S; 5:42694919-42694919 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.269A>G; p.N90S; 5:42694919-42694919 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1640C>T; p.A547V; 5:42719147-42719147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1908C>T; p.I636I; 5:42719415-42719415 |
skin | malignant_melanoma | Substitution - coding silent |
c.1908C>T; p.I636I; 5:42719415-42719415 |
skin | malignant_melanoma | Substitution - coding silent |
c.83T>A; p.I28N; 5:42629050-42629050 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1563C>A; p.V521V; 5:42719070-42719070 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1295A>G; p.N432S; 5:42718802-42718802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.679G>A; p.E227K; 5:42711267-42711267 |
skin | malignant_melanoma | Substitution - Missense |
c.544G>A; p.D182N; 5:42699928-42699928 |
skin | malignant_melanoma | Substitution - Missense |
c.673G>A; p.E225K; 5:42711261-42711261 |
skin | malignant_melanoma | Substitution - Missense |
c.586T>G; p.Y196D; 5:42699970-42699970 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1027G>A; p.V343I; 5:42718534-42718534 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1365A>G; p.K455K; 5:42718872-42718872 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.406G>T; p.V136L; 5:42695056-42695056 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1117T>C; p.S373P; 5:42718624-42718624 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1338C>T; p.P446P; 5:42718845-42718845 |
skin | malignant_melanoma | Substitution - coding silent |
c.770T>G; p.F257C; 5:42711358-42711358 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091G>T; p.R364I; 5:42718598-42718598 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232T>C; p.V411A; 5:42718739-42718739 |
skin | malignant_melanoma | Substitution - Missense |
c.1701C>G; p.I567M; 5:42719208-42719208 |
NS | malignant_melanoma | Substitution - Missense |
c.950G>A; p.G317E; 5:42718457-42718457 |
skin | malignant_melanoma | Substitution - Missense |
c.950G>A; p.G317E; 5:42718457-42718457 |
skin | malignant_melanoma | Substitution - Missense |
c.950G>A; p.G317E; 5:42718457-42718457 |
skin | malignant_melanoma | Substitution - Missense |
c.1572C>T; p.C524C; 5:42719079-42719079 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1256G>A; p.G419E; 5:42718763-42718763 |
skin | malignant_melanoma | Substitution - Missense |
c.1643C>T; p.P548L; 5:42719150-42719150 |
skin | malignant_melanoma | Substitution - Missense |
c.1018G>A; p.D340N; 5:42718525-42718525 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1161C>T; p.T387T; 5:42718668-42718668 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1080A>T; p.S360S; 5:42718587-42718587 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.489T>C; p.S163S; 5:42699873-42699873 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.961G>C; p.E321Q; 5:42718468-42718468 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>A; p.D351N; 5:42718558-42718558 |
skin | malignant_melanoma | Substitution - Missense |
c.1321C>A; p.P441T; 5:42718828-42718828 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.816C>A; p.I272I; 5:42713460-42713460 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.530C>A; p.A177E; 5:42699914-42699914 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1690G>A; p.D564N; 5:42719197-42719197 |
skin | malignant_melanoma | Substitution - Missense |
c.1669C>G; p.Q557E; 5:42719176-42719176 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1113G>A; p.E371E; 5:42718620-42718620 |
skin | malignant_melanoma | Substitution - coding silent |
c.203G>A; p.W68*; 5:42688956-42688956 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1584C>T; p.F528F; 5:42719091-42719091 |
skin | malignant_melanoma | Substitution - coding silent |
c.1584C>T; p.F528F; 5:42719091-42719091 |
skin | malignant_melanoma | Substitution - coding silent |
c.1255G>A; p.G419R; 5:42718762-42718762 |
NS | malignant_melanoma | Substitution - Missense |
c.1584C>T; p.F528F; 5:42719091-42719091 |
skin | malignant_melanoma | Substitution - coding silent |
c.1157G>A; p.R386H; 5:42718664-42718664 |
thyroid | carcinoma | Substitution - Missense |
c.1091G>A; p.R364K; 5:42718598-42718598 |
skin | malignant_melanoma | Substitution - Missense |
c.1091G>A; p.R364K; 5:42718598-42718598 |
skin | malignant_melanoma | Substitution - Missense |
c.1091G>A; p.R364K; 5:42718598-42718598 |
skin | malignant_melanoma | Substitution - Missense |