| Gene ID | 5187 |
| Symbol | PER1 |
| Synonymous | PER|RIGUI|hPER |
| Full name | period circadian clock 1 |
| Gene description | Period, drosophila, homolog of|circadian clock protein PERIOD 1|circadian pacemaker protein RIGUI|hPER1|period circadian protein homolog 1|period homolog 1 |
| Cytoband | 17p13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:602260; HGNC:HGNC:8845; Ensembl:ENSG00000179094; HPRD:03774; Vega:OTTHUMG00000178317 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2224A>T; p.I742F; 17:8144988-8144988 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1753G>A; p.A585T; 17:8146748-8146748 |
prostate | carcinoma | Substitution - Missense |
c.2086G>C; p.E696Q; 17:8146090-8146090 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2536C>T; p.Q846*; 17:8143802-8143802 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.3266G>A; p.S1089N; 17:8142452-8142452 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1353G>A; p.K451K; 17:8147709-8147709 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1189C>A; p.L397M; 17:8148042-8148042 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2077C>T; p.P693S; 17:8146099-8146099 |
skin | malignant_melanoma | Substitution - Missense |
c.2608A>C; p.T870P; 17:8143730-8143730 |
thyroid | other; neoplasm | Substitution - Missense |
c.1839G>A; p.E613E; 17:8146662-8146662 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3319G>A; p.E1107K; 17:8142399-8142399 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1277G>A; p.R426H; 17:8147785-8147785 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3373G>A; p.V1125M; 17:8142345-8142345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1348C>T; p.R450C; 17:8147714-8147714 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1348C>T; p.R450C; 17:8147714-8147714 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.689G>A; p.R230Q; 17:8149626-8149626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1848G>A; p.E616E; 17:8146653-8146653 |
breast | carcinoma | Substitution - coding silent |
c.1858G>T; p.A620S; 17:8146643-8146643 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2736C>T; p.A912A; 17:8143602-8143602 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2495G>A; p.R832Q; 17:8143843-8143843 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2247C>T; p.G749G; 17:8144965-8144965 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2247C>T; p.G749G; 17:8144965-8144965 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1974C>T; p.T658T; 17:8146436-8146436 |
skin | malignant_melanoma | Substitution - coding silent |
c.553T>C; p.W185R; 17:8149853-8149853 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1593C>T; p.N531N; 17:8147286-8147286 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.602C>T; p.T201I; 17:8149804-8149804 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2021C>A; p.S674Y; 17:8146389-8146389 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2432C>T; p.S811F; 17:8144780-8144780 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2118C>T; p.L706L; 17:8146058-8146058 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1692T>G; p.F564L; 17:8146940-8146940 |
liver | carcinoma | Substitution - Missense |
c.711G>C; p.Q237H; 17:8149604-8149604 |
pancreas | carcinoma | Substitution - Missense |
c.1692T>G; p.F564L; 17:8146940-8146940 |
liver | carcinoma | Substitution - Missense |
c.684G>T; p.T228T; 17:8149631-8149631 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2570C>T; p.S857L; 17:8143768-8143768 |
breast | carcinoma | Substitution - Missense |
c.863T>G; p.L288R; 17:8149301-8149301 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.863T>G; p.L288R; 17:8149301-8149301 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.863T>G; p.L288R; 17:8149301-8149301 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.20G>A; p.G7E; 17:8150687-8150687 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2555C>T; p.A852V; 17:8143783-8143783 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.688C>T; p.R230*; 17:8149627-8149627 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.2284C>T; p.P762S; 17:8144928-8144928 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2351C>T; p.S784F; 17:8144861-8144861 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3095A>C; p.N1032T; 17:8142813-8142813 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1294G>A; p.G432R; 17:8147768-8147768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1294G>A; p.G432R; 17:8147768-8147768 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1294G>A; p.G432R; 17:8147768-8147768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1382T>C; p.V461A; 17:8147680-8147680 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3171_3172insT; p.A1058fs*20; 17:8142736-8142737 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1701T>C; p.S567S; 17:8146931-8146931 |
prostate | carcinoma | Substitution - coding silent |
c.1720C>T; p.R574W; 17:8146912-8146912 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1421C>T; p.P474L; 17:8147546-8147546 |
skin | malignant_melanoma | Substitution - Missense |
c.741C>T; p.D247D; 17:8149574-8149574 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.222C>T; p.S74S; 17:8150485-8150485 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.911G>T; p.G304V; 17:8148781-8148781 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3350C>G; p.P1117R; 17:8142368-8142368 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2562C>T; p.C854C; 17:8143776-8143776 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3293T>C; p.F1098S; 17:8142425-8142425 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.134C>T; p.T45I; 17:8150573-8150573 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2187C>T; p.V729V; 17:8145989-8145989 |
skin | malignant_melanoma | Substitution - coding silent |
c.3583C>T; p.R1195W; 17:8141822-8141822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.731G>A; p.C244Y; 17:8149584-8149584 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2255C>G; p.P752R; 17:8144957-8144957 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098C>A; p.P366P; 17:8148210-8148210 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3082A>G; p.T1028A; 17:8142826-8142826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1568G>A; p.S523N; 17:8147311-8147311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1478T>C; p.I493T; 17:8147489-8147489 |
breast | carcinoma | Substitution - Missense |
c.2131A>T; p.K711*; 17:8146045-8146045 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2246G>A; p.G749D; 17:8144966-8144966 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.110C>A; p.P37Q; 17:8150597-8150597 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2574C>T; p.H858H; 17:8143764-8143764 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2942C>T; p.P981L; 17:8143396-8143396 |
skin | malignant_melanoma | Substitution - Missense |
c.3484C>T; p.R1162W; 17:8141921-8141921 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3277C>A; p.H1093N; 17:8142441-8142441 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.71G>A; p.G24D; 17:8150636-8150636 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753G>T; p.A585S; 17:8146748-8146748 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2803C>A; p.P935T; 17:8143535-8143535 |
pancreas | carcinoma | Substitution - Missense |
c.2786C>A; p.P929Q; 17:8143552-8143552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1270C>G; p.P424A; 17:8147792-8147792 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1287C>T; p.A429A; 17:8147775-8147775 |
skin | malignant_melanoma | Substitution - coding silent |
c.3315G>A; p.E1105E; 17:8142403-8142403 |
skin | malignant_melanoma | Substitution - coding silent |
c.1120G>C; p.D374H; 17:8148188-8148188 |
breast | carcinoma | Substitution - Missense |
c.3392G>A; p.W1131*; 17:8142326-8142326 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.639A>C; p.T213T; 17:8149767-8149767 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.639A>C; p.T213T; 17:8149767-8149767 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2360C>T; p.T787I; 17:8144852-8144852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3261C>T; p.R1087R; 17:8142457-8142457 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2360C>T; p.T787I; 17:8144852-8144852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2461+7A>C; p.?; 17:8144744-8144744 |
breast | carcinoma | Unknown |
c.3548C>A; p.A1183D; 17:8141857-8141857 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.920G>A; p.R307Q; 17:8148772-8148772 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3730G>A; p.G1244S; 17:8141211-8141211 |
prostate | carcinoma | Substitution - Missense |
c.1063C>T; p.P355S; 17:8148245-8148245 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1349G>A; p.R450H; 17:8147713-8147713 |
prostate | carcinoma | Substitution - Missense |
c.3790C>G; p.Q1264E; 17:8141151-8141151 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.442C>T; p.R148*; 17:8150058-8150058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1410G>A; p.V470V; 17:8147557-8147557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3684G>A; p.L1228L; 17:8141257-8141257 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2352C>G; p.S784S; 17:8144860-8144860 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.652G>T; p.D218Y; 17:8149663-8149663 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2903G>A; p.R968H; 17:8143435-8143435 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2598C>T; p.T866T; 17:8143740-8143740 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1537G>A; p.G513S; 17:8147342-8147342 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1894G>C; p.D632H; 17:8146607-8146607 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.582C>T; p.S194S; 17:8149824-8149824 |
skin | malignant_melanoma | Substitution - coding silent |
c.1089G>A; p.R363R; 17:8148219-8148219 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3760G>T; p.A1254S; 17:8141181-8141181 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3103G>A; p.A1035T; 17:8142805-8142805 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1411_1412insGT; p.F471fs*46; 17:8147555-8147556 |
kidney | carcinoma; renal_cell_carcinoma | Insertion - Frameshift |
c.2613A>C; p.P871P; 17:8143725-8143725 |
liver | carcinoma | Substitution - coding silent |
c.736C>T; p.R246W; 17:8149579-8149579 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2613A>C; p.P871P; 17:8143725-8143725 |
thyroid | other; neoplasm | Substitution - coding silent |
c.3178T>C; p.S1060P; 17:8142730-8142730 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1941T>C; p.T647T; 17:8146469-8146469 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2613A>C; p.P871P; 17:8143725-8143725 |
liver | carcinoma | Substitution - coding silent |
c.3242C>T; p.T1081I; 17:8142666-8142666 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2981G>A; p.R994H; 17:8143357-8143357 |
ovary | other; neoplasm | Substitution - Missense |
c.1225C>T; p.H409Y; 17:8148006-8148006 |
skin | malignant_melanoma | Substitution - Missense |
c.988G>T; p.G330W; 17:8148704-8148704 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2082G>A; p.R694R; 17:8146094-8146094 |
skin | malignant_melanoma | Substitution - coding silent |
c.571G>A; p.E191K; 17:8149835-8149835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.728G>T; p.R243L; 17:8149587-8149587 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2334G>C; p.L778L; 17:8144878-8144878 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2229G>A; p.M743I; 17:8144983-8144983 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2210C>T; p.P737L; 17:8145966-8145966 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2210C>T; p.P737L; 17:8145966-8145966 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3197G>C; p.G1066A; 17:8142711-8142711 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2210C>T; p.P737L; 17:8145966-8145966 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2361A>G; p.T787T; 17:8144851-8144851 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2210C>T; p.P737L; 17:8145966-8145966 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088G>C; p.R363P; 17:8148220-8148220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2313C>T; p.D771D; 17:8144899-8144899 |
breast | carcinoma | Substitution - coding silent |
c.237G>T; p.K79N; 17:8150470-8150470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.652G>A; p.D218N; 17:8149663-8149663 |
skin | malignant_melanoma | Substitution - Missense |
c.3081C>G; p.V1027V; 17:8142827-8142827 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1212C>T; p.L404L; 17:8148019-8148019 |
breast | carcinoma | Substitution - coding silent |
c.1707C>T; p.A569A; 17:8146925-8146925 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3471G>T; p.K1157N; 17:8141934-8141934 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3471G>T; p.K1157N; 17:8141934-8141934 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.3471G>T; p.K1157N; 17:8141934-8141934 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1032C>T; p.I344I; 17:8148660-8148660 |
skin | malignant_melanoma | Substitution - coding silent |
c.1264C>T; p.H422Y; 17:8147798-8147798 |
breast | carcinoma | Substitution - Missense |
c.3235G>A; p.G1079S; 17:8142673-8142673 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3592G>C; p.D1198H; 17:8141813-8141813 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1946G>A; p.R649H; 17:8146464-8146464 |
skin | malignant_melanoma | Substitution - Missense |
c.1293C>T; p.N431N; 17:8147769-8147769 |
breast | carcinoma | Substitution - coding silent |
c.3179C>T; p.S1060L; 17:8142729-8142729 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3584G>T; p.R1195L; 17:8141821-8141821 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1207C>G; p.P403A; 17:8148024-8148024 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2596A>C; p.T866P; 17:8143742-8143742 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.136G>T; p.D46Y; 17:8150571-8150571 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.815C>T; p.P272L; 17:8149500-8149500 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1385G>A; p.R462H; 17:8147677-8147677 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2596A>C; p.T866P; 17:8143742-8143742 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2596A>C; p.T866P; 17:8143742-8143742 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.492G>A; p.T164T; 17:8150008-8150008 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3110C>T; p.S1037F; 17:8142798-8142798 |
breast | carcinoma | Substitution - Missense |
c.3794A>C; p.D1265A; 17:8141147-8141147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3355G>A; p.D1119N; 17:8142363-8142363 |
pancreas | other; cystic_tumour | Substitution - Missense |
c.695T>C; p.V232A; 17:8149620-8149620 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.80C>T; p.S27F; 17:8150627-8150627 |
skin | malignant_melanoma | Substitution - Missense |
c.678C>T; p.F226F; 17:8149637-8149637 |
skin | malignant_melanoma | Substitution - coding silent |
c.570C>T; p.G190G; 17:8149836-8149836 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2526A>C; p.S842S; 17:8143812-8143812 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1368G>A; p.L456L; 17:8147694-8147694 |
liver | carcinoma | Substitution - coding silent |
c.1368G>A; p.L456L; 17:8147694-8147694 |
liver | carcinoma | Substitution - coding silent |
c.2564A>G; p.Y855C; 17:8143774-8143774 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2207C>A; p.P736H; 17:8145969-8145969 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.880G>T; p.E294*; 17:8149284-8149284 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1388+1G>A; p.?; 17:8147673-8147673 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3768C>T; p.G1256G; 17:8141173-8141173 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2045C>T; p.P682L; 17:8146131-8146131 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2136G>C; p.A712A; 17:8146040-8146040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154T>C; p.S52P; 17:8150553-8150553 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1956C>T; p.A652A; 17:8146454-8146454 |
skin | malignant_melanoma | Substitution - coding silent |
c.1155C>A; p.P385P; 17:8148076-8148076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3567delG; p.K1190fs*10; 17:8141838-8141838 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3501G>A; p.Q1167Q; 17:8141904-8141904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2888C>T; p.P963L; 17:8143450-8143450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3206C>G; p.S1069C; 17:8142702-8142702 |
breast | carcinoma | Substitution - Missense |
c.2136G>T; p.A712A; 17:8146040-8146040 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.232G>A; p.G78S; 17:8150475-8150475 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2954A>G; p.N985S; 17:8143384-8143384 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2954A>G; p.N985S; 17:8143384-8143384 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2889G>A; p.P963P; 17:8143449-8143449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2544T>A; p.P848P; 17:8143794-8143794 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3860A>G; p.N1287S; 17:8141081-8141081 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.386C>T; p.S129L; 17:8150114-8150114 |
breast | carcinoma | Substitution - Missense |
c.83C>T; p.P28L; 17:8150624-8150624 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3589C>A; p.L1197I; 17:8141816-8141816 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2038+2T>G; p.?; 17:8146370-8146370 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.3551T>C; p.V1184A; 17:8141854-8141854 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.693C>T; p.I231I; 17:8149622-8149622 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.359C>T; p.S120F; 17:8150234-8150234 |
breast | carcinoma | Substitution - Missense |
c.45G>T; p.R15S; 17:8150662-8150662 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1846G>T; p.E616*; 17:8146655-8146655 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.823C>A; p.L275M; 17:8149492-8149492 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1778C>T; p.P593L; 17:8146723-8146723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2073C>T; p.A691A; 17:8146103-8146103 |
skin | malignant_melanoma | Substitution - coding silent |
c.3766G>A; p.G1256S; 17:8141175-8141175 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1606G>C; p.E536Q; 17:8147273-8147273 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.509C>T; p.A170V; 17:8149991-8149991 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1871C>T; p.S624F; 17:8146630-8146630 |
skin | malignant_melanoma | Substitution - Missense |
c.3224C>G; p.S1075C; 17:8142684-8142684 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1606G>C; p.E536Q; 17:8147273-8147273 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3766G>A; p.G1256S; 17:8141175-8141175 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.107G>T; p.C36F; 17:8150600-8150600 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.3567G>C; p.R1189R; 17:8141838-8141838 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.107G>T; p.C36F; 17:8150600-8150600 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2556G>A; p.A852A; 17:8143782-8143782 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2884G>C; p.A962P; 17:8143454-8143454 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2884G>C; p.A962P; 17:8143454-8143454 |
thyroid | other; neoplasm | Substitution - Missense |
c.3709G>A; p.E1237K; 17:8141232-8141232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.652delG; p.D218fs*10; 17:8149663-8149663 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.2454C>T; p.G818G; 17:8144758-8144758 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1138delC; p.L380fs*73; 17:8148093-8148093 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1138delC; p.L380fs*73; 17:8148093-8148093 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1164C>T; p.L388L; 17:8148067-8148067 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.748C>T; p.R250W; 17:8149567-8149567 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |