| Gene ID | 9378 |
| Symbol | NRXN1 |
| Synonymous | Hs.22998|PTHSL2|SCZD17 |
| Full name | neurexin 1 |
| Gene description | neurexin I|neurexin-1-beta |
| Cytoband | 2p16.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600565; HGNC:HGNC:8008; Ensembl:ENSG00000179915; HPRD:11858; Vega:OTTHUMG00000129263 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1005G>A; p.P335P; 2:49943720-49943720 |
endometrium | carcinoma; serous_carcinoma | Substitution - coding silent |
c.329C>T; p.P110L; 2:50236901-50236901 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.261T>C; p.A87A; 2:50236969-50236969 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.506A>C; p.N169T; 2:50091430-50091430 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.293G>A; p.G98E; 2:50236937-50236937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.680C>A; p.P227H; 2:50053524-50053524 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.347G>A; p.R116K; 2:50236883-50236883 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.465G>A; p.K155K; 2:50091471-50091471 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.465G>A; p.K155K; 2:50091471-50091471 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1277C>T; p.A426V; 2:49921996-49921996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.751G>A; p.A251T; 2:50053453-50053453 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.474T>G; p.V158V; 2:50091462-50091462 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1128C>T; p.A376A; 2:49922145-49922145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.890C>G; p.T297R; 2:50053314-50053314 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1286C>A; p.S429Y; 2:49921987-49921987 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.337C>T; p.R113*; 2:50236893-50236893 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.326G>A; p.R109Q; 2:50236904-50236904 |
skin | malignant_melanoma | Substitution - Missense |
c.608C>T; p.P203L; 2:50091328-50091328 |
pancreas | carcinoma | Substitution - Missense |
c.337C>T; p.R113*; 2:50236893-50236893 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.472G>T; p.V158F; 2:50091464-50091464 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.330C>T; p.P110P; 2:50236900-50236900 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.294A>G; p.G98G; 2:50236936-50236936 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1067C>A; p.A356E; 2:49922206-49922206 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.205C>T; p.H69Y; 2:50346745-50346745 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.822_823insC; p.A275fs*22; 2:50053381-50053382 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.1039G>A; p.G347S; 2:49922234-49922234 |
breast | carcinoma | Substitution - Missense |
c.1039G>A; p.G347S; 2:49922234-49922234 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.830C>T; p.A277V; 2:50053374-50053374 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>T; p.S135I; 2:50236826-50236826 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.303G>C; p.T101T; 2:50236927-50236927 |
liver | carcinoma | Substitution - coding silent |
c.303G>C; p.T101T; 2:50236927-50236927 |
liver | carcinoma | Substitution - coding silent |
c.800C>A; p.S267Y; 2:50053404-50053404 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.227A>G; p.Y76C; 2:50346723-50346723 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.602G>A; p.R201H; 2:50091334-50091334 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.972C>A; p.P324P; 2:49943753-49943753 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.355A>G; p.I119V; 2:50236875-50236875 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1178G>T; p.R393L; 2:49922095-49922095 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.287G>T; p.G96V; 2:50236943-50236943 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1123G>A; p.A375T; 2:49922150-49922150 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.495T>C; p.I165I; 2:50091441-50091441 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1054T>C; p.Y352H; 2:49922219-49922219 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.236C>T; p.P79L; 2:50346714-50346714 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.453A>T; p.K151N; 2:50091483-50091483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.681delC; p.F228fs*13; 2:50053523-50053523 |
liver | carcinoma | Deletion - Frameshift |
c.248G>A; p.R83Q; 2:50346702-50346702 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7C>A; p.Q3K; 2:50346943-50346943 |
liver | carcinoma | Substitution - Missense |
c.7C>A; p.Q3K; 2:50346943-50346943 |
liver | carcinoma | Substitution - Missense |
c.1167G>A; p.K389K; 2:49922106-49922106 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.850A>C; p.T284P; 2:50053354-50053354 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.365G>A; p.S122N; 2:50236865-50236865 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.746A>T; p.N249I; 2:50053458-50053458 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.272A>G; p.Y91C; 2:50236958-50236958 |
breast | carcinoma | Substitution - Missense |
c.581A>G; p.D194G; 2:50091355-50091355 |
skin | malignant_melanoma | Substitution - Missense |
c.1097C>T; p.T366M; 2:49922176-49922176 |
pancreas | carcinoma | Substitution - Missense |
c.899G>A; p.R300K; 2:50053305-50053305 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1046G>T; p.R349I; 2:49922227-49922227 |
breast | carcinoma | Substitution - Missense |
c.340G>T; p.A114S; 2:50236890-50236890 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017G>C; p.G339G; 2:49943708-49943708 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.705G>T; p.L235L; 2:50053499-50053499 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.663delG; p.E223fs*18; 2:50053541-50053541 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.934A>G; p.T312A; 2:49943791-49943791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046G>C; p.R349T; 2:49922227-49922227 |
breast | carcinoma | Substitution - Missense |
c.1094C>A; p.T365N; 2:49922179-49922179 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.922C>A; p.P308T; 2:50053282-50053282 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.618T>C; p.R206R; 2:50053586-50053586 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.905A>T; p.K302M; 2:50053299-50053299 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.437A>T; p.H146L; 2:50236793-50236793 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.607C>A; p.P203T; 2:50091329-50091329 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1129G>A; p.A377T; 2:49922144-49922144 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.542G>A; p.R181H; 2:50091394-50091394 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.594G>A; p.V198V; 2:50091342-50091342 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.395G>A; p.R132Q; 2:50236835-50236835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.594G>A; p.V198V; 2:50091342-50091342 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.542G>A; p.R181H; 2:50091394-50091394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.542G>A; p.R181H; 2:50091394-50091394 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.162G>T; p.L54F; 2:50346788-50346788 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.616C>T; p.R206C; 2:50053588-50053588 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1211G>T; p.R404L; 2:49922062-49922062 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.438T>A; p.H146Q; 2:50236792-50236792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275T>C; p.S425S; 2:49921998-49921998 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1077C>T; p.I359I; 2:49922196-49922196 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.926T>A; p.I309N; 2:50053278-50053278 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.344A>T; p.D115V; 2:50236886-50236886 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280A>G; p.K427R; 2:49921993-49921993 |
breast | carcinoma | Substitution - Missense |
c.829G>A; p.A277T; 2:50053375-50053375 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.923C>A; p.P308H; 2:50053281-50053281 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.769G>A; p.G257R; 2:50053435-50053435 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.211G>C; p.V71L; 2:50346739-50346739 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.813T>A; p.T271T; 2:50053391-50053391 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1059A>T; p.P353P; 2:49922214-49922214 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.143C>T; p.A48V; 2:50346807-50346807 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1234C>T; p.Q412*; 2:49922039-49922039 |
pancreas | carcinoma | Substitution - Nonsense |
c.794T>C; p.V265A; 2:50053410-50053410 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742G>A; p.E248K; 2:50053462-50053462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.674G>A; p.G225D; 2:50053530-50053530 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.674G>A; p.G225D; 2:50053530-50053530 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.742G>A; p.E248K; 2:50053462-50053462 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.742G>A; p.E248K; 2:50053462-50053462 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1208G>C; p.S403T; 2:49922065-49922065 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.455T>A; p.I152N; 2:50091481-50091481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.687G>T; p.Q229H; 2:50053517-50053517 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>G; p.A356G; 2:49922206-49922206 |
thyroid | carcinoma | Substitution - Missense |
c.1153T>C; p.Y385H; 2:49922120-49922120 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.252C>A; p.G84G; 2:50346698-50346698 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1238C>A; p.S413Y; 2:49922035-49922035 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>T; p.N258I; 2:50053431-50053431 |
kidney | other; neoplasm | Substitution - Missense |
c.1053G>A; p.P351P; 2:49922220-49922220 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1098G>C; p.T366T; 2:49922175-49922175 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.281G>A; p.S94N; 2:50236949-50236949 |
skin | malignant_melanoma | Substitution - Missense |
c.923C>T; p.P308L; 2:50053281-50053281 |
NS | malignant_melanoma | Substitution - Missense |
c.923C>T; p.P308L; 2:50053281-50053281 |
NS | malignant_melanoma | Substitution - Missense |
c.287G>C; p.G96A; 2:50236943-50236943 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.605A>G; p.Y202C; 2:50091331-50091331 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.605A>G; p.Y202C; 2:50091331-50091331 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.1078C>A; p.R360R; 2:49922195-49922195 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.991G>T; p.D331Y; 2:49943734-49943734 |
liver | carcinoma | Substitution - Missense |
c.870C>T; p.T290T; 2:50053334-50053334 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1230A>G; p.S410S; 2:49922043-49922043 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.991G>T; p.D331Y; 2:49943734-49943734 |
liver | carcinoma | Substitution - Missense |
c.402C>G; p.D134E; 2:50236828-50236828 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.988A>T; p.I330F; 2:49943737-49943737 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1292A>C; p.K431T; 2:49921981-49921981 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.263G>A; p.G88E; 2:50236967-50236967 |
skin | malignant_melanoma | Substitution - Missense |
c.541C>T; p.R181C; 2:50091395-50091395 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.921A>C; p.E307D; 2:50053283-50053283 |
skin | malignant_melanoma | Substitution - Missense |
c.542G>T; p.R181L; 2:50091394-50091394 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.85G>T; p.G29W; 2:50346865-50346865 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.919G>A; p.E307K; 2:50053285-50053285 |
skin | malignant_melanoma | Substitution - Missense |
c.436C>A; p.H146N; 2:50236794-50236794 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.436C>A; p.H146N; 2:50236794-50236794 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.839C>T; p.S280L; 2:50053365-50053365 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839C>T; p.S280L; 2:50053365-50053365 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1211G>A; p.R404Q; 2:49922062-49922062 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1107C>T; p.V369V; 2:49922166-49922166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1211G>A; p.R404Q; 2:49922062-49922062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.896G>A; p.R299K; 2:50053308-50053308 |
skin | malignant_melanoma | Substitution - Missense |
c.1131C>G; p.A377A; 2:49922142-49922142 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.396A>G; p.R132R; 2:50236834-50236834 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.962C>T; p.A321V; 2:49943763-49943763 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.497A>G; p.E166G; 2:50091439-50091439 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1317G>A; p.E439E; 2:49921956-49921956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1268C>T; p.P423L; 2:49922005-49922005 |
pancreas | carcinoma | Substitution - Missense |
c.777G>C; p.V259V; 2:50053427-50053427 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1115T>C; p.I372T; 2:49922158-49922158 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>T; p.G221W; 2:50053543-50053543 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.976G>A; p.D326N; 2:49943749-49943749 |
skin | malignant_melanoma | Substitution - Missense |
c.762C>T; p.A254A; 2:50053442-50053442 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1012G>T; p.G338C; 2:49943713-49943713 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>A; p.G221R; 2:50053543-50053543 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042G>T; p.G348C; 2:49922231-49922231 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.385G>A; p.V129I; 2:50236845-50236845 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.532C>A; p.H178N; 2:50091404-50091404 |
skin | malignant_melanoma | Substitution - Missense |
c.532C>A; p.H178N; 2:50091404-50091404 |
kidney | other; neoplasm | Substitution - Missense |
c.384C>T; p.A128A; 2:50236846-50236846 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.499G>T; p.E167*; 2:50091437-50091437 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.941A>G; p.D314G; 2:49943784-49943784 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.941A>G; p.D314G; 2:49943784-49943784 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.941A>G; p.D314G; 2:49943784-49943784 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.941A>G; p.D314G; 2:49943784-49943784 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1258G>T; p.E420*; 2:49922015-49922015 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.445C>A; p.Q149K; 2:50091491-50091491 |
prostate | carcinoma | Substitution - Missense |
c.1190C>A; p.S397*; 2:49922083-49922083 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.464A>C; p.K155T; 2:50091472-50091472 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.401A>G; p.D134G; 2:50236829-50236829 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.384C>A; p.A128A; 2:50236846-50236846 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.351G>T; p.L117L; 2:50236879-50236879 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.343G>T; p.D115Y; 2:50236887-50236887 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.597C>T; p.I199I; 2:50091339-50091339 |
skin | malignant_melanoma | Substitution - coding silent |
c.597C>T; p.I199I; 2:50091339-50091339 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.597C>T; p.I199I; 2:50091339-50091339 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.597C>T; p.I199I; 2:50091339-50091339 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.601C>T; p.R201C; 2:50091335-50091335 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210C>T; p.R404*; 2:49922063-49922063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.806T>C; p.M269T; 2:50053398-50053398 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.142G>T; p.A48S; 2:50346808-50346808 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.142G>T; p.A48S; 2:50346808-50346808 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278G>A; p.A426A; 2:49921995-49921995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.995C>A; p.P332H; 2:49943730-49943730 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.607C>G; p.P203A; 2:50091329-50091329 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.373C>A; p.Q125K; 2:50236857-50236857 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.652A>G; p.I218V; 2:50053552-50053552 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.716G>A; p.G239D; 2:50053488-50053488 |
skin | malignant_melanoma | Substitution - Missense |
c.902G>A; p.G301E; 2:50053302-50053302 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.410C>T; p.S137L; 2:50236820-50236820 |
skin | malignant_melanoma | Substitution - Missense |
c.325C>T; p.R109*; 2:50236905-50236905 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.325C>T; p.R109*; 2:50236905-50236905 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.325C>T; p.R109*; 2:50236905-50236905 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.325C>T; p.R109*; 2:50236905-50236905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.267G>A; p.T89T; 2:50236963-50236963 |
skin | malignant_melanoma | Substitution - coding silent |
c.267G>A; p.T89T; 2:50236963-50236963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.622C>T; p.L208F; 2:50053582-50053582 |
liver | carcinoma | Substitution - Missense |
c.622C>T; p.L208F; 2:50053582-50053582 |
liver | carcinoma | Substitution - Missense |
c.394C>T; p.R132*; 2:50236836-50236836 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.911C>G; p.P304R; 2:50053293-50053293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.253G>A; p.G85R; 2:50346697-50346697 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.518A>C; p.N173T; 2:50091418-50091418 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1144A>C; p.I382L; 2:49922129-49922129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.395G>T; p.R132L; 2:50236835-50236835 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.127G>A; p.G43S; 2:50346823-50346823 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098G>A; p.T366T; 2:49922175-49922175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.499G>C; p.E167Q; 2:50091437-50091437 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.458G>T; p.G153V; 2:50091478-50091478 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1268C>A; p.P423H; 2:49922005-49922005 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.276C>A; p.I92I; 2:50236954-50236954 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1309G>A; p.D437N; 2:49921964-49921964 |
skin | malignant_melanoma | Substitution - Missense |
c.276C>A; p.I92I; 2:50236954-50236954 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.252C>T; p.G84G; 2:50346698-50346698 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1137C>T; p.C379C; 2:49922136-49922136 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.809C>T; p.T270I; 2:50053395-50053395 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.340G>A; p.A114T; 2:50236890-50236890 |
breast | carcinoma | Substitution - Missense |
c.1148T>A; p.L383H; 2:49922125-49922125 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.911C>T; p.P304L; 2:50053293-50053293 |
pancreas | carcinoma | Substitution - Missense |
c.578T>G; p.V193G; 2:50091358-50091358 |
breast | carcinoma | Substitution - Missense |
c.349C>T; p.L117L; 2:50236881-50236881 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.490G>A; p.A164T; 2:50091446-50091446 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |