| Gene ID | 116154 |
| Symbol | PHACTR3 |
| Synonymous | C20orf101|H17739|PPP1R123|SCAPIN1|SCAPININ |
| Full name | phosphatase and actin regulator 3 |
| Gene description | protein phosphatase 1, regulatory subunit 123|scaffold-associated PP1-inhibiting protein |
| Cytoband | 20q13.32-q13.33 |
| Gene type | protein-coding |
| Synonymous | MIM:608725; HGNC:HGNC:15833; Ensembl:ENSG00000087495; HPRD:10571; Vega:OTTHUMG00000032869 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1516G>A; p.E506K; 20:59841464-59841464 |
skin | malignant_melanoma | Substitution - Missense |
c.1370G>T; p.R457I; 20:59836546-59836546 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1384+1G>A; p.?; 20:59836561-59836561 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.502G>A; p.D168N; 20:59755325-59755325 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1377C>A; p.I459I; 20:59836553-59836553 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.135G>C; p.T45T; 20:59743123-59743123 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1603G>T; p.E535*; 20:59845204-59845204 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1603G>T; p.E535*; 20:59845204-59845204 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1616A>G; p.Y539C; 20:59845217-59845217 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1356A>C; p.E452D; 20:59836532-59836532 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.504C>A; p.D168E; 20:59755327-59755327 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.504C>A; p.D168E; 20:59755327-59755327 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.504C>A; p.D168E; 20:59755327-59755327 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.504C>A; p.D168E; 20:59755327-59755327 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.504C>A; p.D168E; 20:59755327-59755327 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.504C>A; p.D168E; 20:59755327-59755327 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.895A>G; p.R299G; 20:59773422-59773422 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618A>C; p.K540Q; 20:59845219-59845219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.990G>A; p.T330T; 20:59774306-59774306 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.311G>A; p.G104D; 20:59747788-59747788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.250delA; p.N85fs*4; 20:59743238-59743238 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1409A>C; p.E470A; 20:59840393-59840393 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.283C>T; p.L95L; 20:59747760-59747760 |
skin | malignant_melanoma | Substitution - coding silent |
c.1038C>T; p.D346D; 20:59774354-59774354 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.398G>A; p.R133Q; 20:59755221-59755221 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.243G>A; p.R81R; 20:59743231-59743231 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.398G>A; p.R133Q; 20:59755221-59755221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1038C>T; p.D346D; 20:59774354-59774354 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1420G>A; p.E474K; 20:59840404-59840404 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.184G>T; p.V62L; 20:59743172-59743172 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1545G>A; p.R515R; 20:59841493-59841493 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.462C>T; p.P154P; 20:59755285-59755285 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1513G>A; p.V505M; 20:59841461-59841461 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1138C>A; p.Q380K; 20:59774454-59774454 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.301G>A; p.G101S; 20:59747778-59747778 |
breast | carcinoma | Substitution - Missense |
c.317A>G; p.E106G; 20:59747794-59747794 |
skin | malignant_melanoma | Substitution - Missense |
c.711G>A; p.P237P; 20:59767355-59767355 |
breast | carcinoma | Substitution - coding silent |
c.1139A>T; p.Q380L; 20:59774455-59774455 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.860C>A; p.P287H; 20:59773387-59773387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.894C>G; p.H298Q; 20:59773421-59773421 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1328A>C; p.K443T; 20:59806194-59806194 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.219G>T; p.R73S; 20:59743207-59743207 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.219G>T; p.R73S; 20:59743207-59743207 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1091A>G; p.E364G; 20:59774407-59774407 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.721G>A; p.A241T; 20:59767365-59767365 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1622G>T; p.S541I; 20:59845223-59845223 |
ovary | other; neoplasm | Substitution - Missense |
c.148C>A; p.P50T; 20:59743136-59743136 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.934G>A; p.G312R; 20:59774250-59774250 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.862C>A; p.L288I; 20:59773389-59773389 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.404T>C; p.V135A; 20:59755227-59755227 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1492C>T; p.L498L; 20:59841440-59841440 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.441G>A; p.L147L; 20:59755264-59755264 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.141G>T; p.P47P; 20:59743129-59743129 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.144G>A; p.A48A; 20:59743132-59743132 |
pancreas | carcinoma | Substitution - coding silent |
c.1614G>A; p.E538E; 20:59845215-59845215 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.739A>T; p.K247*; 20:59767383-59767383 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.135G>A; p.T45T; 20:59743123-59743123 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.178C>T; p.P60S; 20:59743166-59743166 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.684_685CC>AA; p.P229T; 20:59767328-59767329 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.824C>T; p.P275L; 20:59773351-59773351 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1090G>T; p.E364*; 20:59774406-59774406 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.437C>T; p.T146M; 20:59755260-59755260 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.437C>T; p.T146M; 20:59755260-59755260 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.134C>T; p.T45M; 20:59743122-59743122 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.745G>T; p.V249F; 20:59767389-59767389 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1187G>A; p.R396Q; 20:59806053-59806053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.384C>T; p.P128P; 20:59755207-59755207 |
pancreas | NS | Substitution - coding silent |
c.1311C>T; p.I437I; 20:59806177-59806177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.119-1G>A; p.?; 20:59743106-59743106 |
lung | carcinoma; adenocarcinoma | Unknown |
c.710C>T; p.P237L; 20:59767354-59767354 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1071G>T; p.K357N; 20:59774387-59774387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.485C>T; p.T162M; 20:59755308-59755308 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.816C>G; p.L272L; 20:59773343-59773343 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.197G>T; p.S66I; 20:59743185-59743185 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1243G>A; p.E415K; 20:59806109-59806109 |
skin | malignant_melanoma | Substitution - Missense |
c.996C>T; p.S332S; 20:59774312-59774312 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.364G>A; p.E122K; 20:59755187-59755187 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.984G>A; p.S328S; 20:59774300-59774300 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1493T>G; p.L498R; 20:59841441-59841441 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.579C>T; p.D193D; 20:59767223-59767223 |
pancreas | carcinoma | Substitution - coding silent |
c.1109C>T; p.S370F; 20:59774425-59774425 |
skin | malignant_melanoma | Substitution - Missense |
c.286G>C; p.E96Q; 20:59747763-59747763 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1443A>C; p.R481S; 20:59840427-59840427 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1299C>A; p.I433I; 20:59806165-59806165 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.281C>T; p.A94V; 20:59747758-59747758 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.216C>A; p.G72G; 20:59743204-59743204 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1143C>T; p.D381D; 20:59774459-59774459 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.275C>T; p.T92M; 20:59743263-59743263 |
ovary | other; neoplasm | Substitution - Missense |
c.607G>T; p.E203*; 20:59767251-59767251 |
kidney | other; neoplasm | Substitution - Nonsense |
c.143C>T; p.A48V; 20:59743131-59743131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298G>C; p.A100P; 20:59747775-59747775 |
breast | carcinoma | Substitution - Missense |
c.806G>T; p.R269L; 20:59773333-59773333 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.765C>G; p.L255L; 20:59773292-59773292 |
breast | carcinoma | Substitution - coding silent |
c.542-7G>A; p.?; 20:59767179-59767179 |
pancreas | carcinoma | Unknown |
c.145C>A; p.R49S; 20:59743133-59743133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.172C>T; p.R58*; 20:59743160-59743160 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1529C>T; p.A510V; 20:59841477-59841477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1439C>T; p.T480I; 20:59840423-59840423 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1158C>T; p.N386N; 20:59774474-59774474 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1678T>C; p.*560Q; 20:59847128-59847128 |
liver | carcinoma | Nonstop extension |
c.1338C>T; p.S446S; 20:59836514-59836514 |
liver | carcinoma | Substitution - coding silent |
c.1338C>T; p.S446S; 20:59836514-59836514 |
liver | carcinoma | Substitution - coding silent |
c.303C>A; p.G101G; 20:59747780-59747780 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.993C>T; p.S331S; 20:59774309-59774309 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.242G>A; p.R81K; 20:59743230-59743230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1554C>A; p.D518E; 20:59841502-59841502 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1301G>C; p.R434P; 20:59806167-59806167 |
breast | carcinoma | Substitution - Missense |
c.950G>A; p.G317E; 20:59774266-59774266 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.146G>A; p.R49H; 20:59743134-59743134 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.146G>A; p.R49H; 20:59743134-59743134 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.146G>A; p.R49H; 20:59743134-59743134 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.998T>G; p.V333G; 20:59774314-59774314 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.571G>A; p.E191K; 20:59767215-59767215 |
skin | malignant_melanoma | Substitution - Missense |
c.792C>T; p.A264A; 20:59773319-59773319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1224G>A; p.R408R; 20:59806090-59806090 |
skin | malignant_melanoma | Substitution - coding silent |
c.675G>T; p.V225V; 20:59767319-59767319 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.389G>A; p.G130E; 20:59755212-59755212 |
skin | malignant_melanoma | Substitution - Missense |
c.173G>A; p.R58Q; 20:59743161-59743161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.173G>A; p.R58Q; 20:59743161-59743161 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.173G>A; p.R58Q; 20:59743161-59743161 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.420C>T; p.P140P; 20:59755243-59755243 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.313C>T; p.R105*; 20:59747790-59747790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1417A>C; p.R473R; 20:59840401-59840401 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1186C>T; p.R396W; 20:59806052-59806052 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1186C>T; p.R396W; 20:59806052-59806052 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.639C>T; p.S213S; 20:59767283-59767283 |
ovary | other; neoplasm | Substitution - coding silent |
c.280+1G>A; p.?; 20:59743269-59743269 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1212C>T; p.A404A; 20:59806078-59806078 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1212C>T; p.A404A; 20:59806078-59806078 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.671C>T; p.S224F; 20:59767315-59767315 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1498C>T; p.R500*; 20:59841446-59841446 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1498C>T; p.R500*; 20:59841446-59841446 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1498C>T; p.R500*; 20:59841446-59841446 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.858G>T; p.R286R; 20:59773385-59773385 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.475G>A; p.A159T; 20:59755298-59755298 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1253A>G; p.D418G; 20:59806119-59806119 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.126_127GG>AA; p.M42_D43>IN; 20:59743114-59743115 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Complex - compound substitution |
c.1253A>G; p.D418G; 20:59806119-59806119 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.139C>T; p.P47S; 20:59743127-59743127 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1494G>A; p.L498L; 20:59841442-59841442 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.139C>T; p.P47S; 20:59743127-59743127 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1065C>T; p.A355A; 20:59774381-59774381 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1065C>T; p.A355A; 20:59774381-59774381 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.976C>T; p.R326C; 20:59774292-59774292 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1642G>T; p.A548S; 20:59845243-59845243 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.690C>T; p.S230S; 20:59767334-59767334 |
skin | malignant_melanoma | Substitution - coding silent |
c.329A>G; p.K110R; 20:59747806-59747806 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.612C>A; p.L204L; 20:59767256-59767256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.989C>T; p.T330M; 20:59774305-59774305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.748A>G; p.T250A; 20:59767392-59767392 |
pancreas | carcinoma | Substitution - Missense |
c.748A>G; p.T250A; 20:59767392-59767392 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1003C>T; p.R335W; 20:59774319-59774319 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1003C>T; p.R335W; 20:59774319-59774319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1003C>T; p.R335W; 20:59774319-59774319 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.248A>G; p.K83R; 20:59743236-59743236 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089G>A; p.K363K; 20:59774405-59774405 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.595C>T; p.P199S; 20:59767239-59767239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1011G>A; p.K337K; 20:59774327-59774327 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.737_738insA; p.N248fs*48; 20:59767381-59767382 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.793G>A; p.D265N; 20:59773320-59773320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1072G>C; p.E358Q; 20:59774388-59774388 |
breast | carcinoma | Substitution - Missense |
c.1566G>A; p.T522T; 20:59841514-59841514 |
skin | malignant_melanoma | Substitution - coding silent |
c.638C>T; p.S213F; 20:59767282-59767282 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.638C>T; p.S213F; 20:59767282-59767282 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1566G>A; p.T522T; 20:59841514-59841514 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1144G>A; p.E382K; 20:59774460-59774460 |
skin | malignant_melanoma | Substitution - Missense |
c.638C>T; p.S213F; 20:59767282-59767282 |
skin | malignant_melanoma | Substitution - Missense |
c.1144G>A; p.E382K; 20:59774460-59774460 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.697C>A; p.L233M; 20:59767341-59767341 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.951G>A; p.G317G; 20:59774267-59774267 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.342G>A; p.L114L; 20:59747819-59747819 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.253A>G; p.N85D; 20:59743241-59743241 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.639C>A; p.S213S; 20:59767283-59767283 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.254delA; p.N85fs*4; 20:59743242-59743242 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.256G>A; p.E86K; 20:59743244-59743244 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.906C>T; p.A302A; 20:59773433-59773433 |
liver | carcinoma | Substitution - coding silent |
c.906C>T; p.A302A; 20:59773433-59773433 |
liver | carcinoma | Substitution - coding silent |
c.802C>T; p.L268F; 20:59773329-59773329 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1399A>C; p.T467P; 20:59840383-59840383 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.692C>T; p.P231L; 20:59767336-59767336 |
skin | malignant_melanoma | Substitution - Missense |
c.140C>T; p.P47L; 20:59743128-59743128 |
oesophagus | carcinoma | Substitution - Missense |
c.318G>A; p.E106E; 20:59747795-59747795 |
skin | malignant_melanoma | Substitution - coding silent |
c.833C>A; p.S278Y; 20:59773360-59773360 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.916C>T; p.R306C; 20:59773443-59773443 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.740A>G; p.K247R; 20:59767384-59767384 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.964C>T; p.R322W; 20:59774280-59774280 |
pancreas | carcinoma | Substitution - Missense |
c.464G>A; p.G155E; 20:59755287-59755287 |
skin | malignant_melanoma | Substitution - Missense |
c.345G>C; p.E115D; 20:59747822-59747822 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.119-5T>G; p.?; 20:59743102-59743102 |
prostate | carcinoma | Unknown |
c.362C>T; p.A121V; 20:59755185-59755185 |
urinary_tract; bladder | carcinoma | Substitution - Missense |