| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7253 |
Name | TSHR |
Synonymous | CHNG1|LGR3|hTSHR-I;thyroid stimulating hormone receptor;TSHR;thyroid stimulating hormone receptor |
Definition | TSH-R|seven transmembrane helix receptor|thyroid-stimulating hormone receptor|thyrotropin receptor|thyrotropin receptor-I, hTSHR-I |
Position | 14q31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TSHR | ||
PCGP somatic mutation [Top] | ||
There is no record for TSHR | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1854_1858AGATA>GT; p.D619_T620>S; 14:80680009-80680013 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | adenoma-nodule-goitre |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | adenoma-nodule-goitre |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.1899C>G; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1458C>G; p.I486M; 14:80679613-80679613 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1887G>T; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1899C>G; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1887G>T; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.?; p.S281N; |
thyroid | adenoma-nodule-goitre |
c.?; p.I568T; |
thyroid | adenoma-nodule-goitre |
c.1837_1863del27; p.Y613_K621delYNPGDKDTK; 14:80679992-80680018 |
thyroid | adenoma-nodule-goitre |
c.?; p.D619G; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.D633E; |
thyroid | adenoma-nodule-goitre |
c.?; p.D633E; |
thyroid | adenoma-nodule-goitre |
c.1966G>T; p.V656F; 14:80680121-80680121 |
thyroid | adenoma-nodule-goitre |
c.1535T>A; p.L512Q; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1456A>T; p.I486F; 14:80679611-80679611 |
thyroid | adenoma-nodule-goitre |
c.1535T>A; p.L512Q; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1703T>C; p.I568T; 14:80679858-80679858 |
thyroid | adenoma-nodule-goitre |
c.1703T>C; p.I568T; 14:80679858-80679858 |
thyroid | adenoma-nodule-goitre |
c.1777_1778GC>AA; p.A593N; 14:80679932-80679933 |
thyroid | adenoma-nodule-goitre |
c.1887G>C; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1899C>G; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | carcinoma; follicular_carcinoma |
c.1891T>A; p.F631I; 14:80680046-80680046 |
thyroid | carcinoma; follicular_carcinoma |
c.?; p.D633Y; |
thyroid | adenoma-nodule-goitre |
c.?; p.V656F; |
thyroid | adenoma-nodule-goitre |
c.?; p.M453T; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.L629F; |
thyroid | adenoma-nodule-goitre |
c.?; p.L629F; |
thyroid | adenoma-nodule-goitre |
c.?; p.P639S; |
thyroid | adenoma-nodule-goitre |
c.?; p.I568T; |
thyroid | adenoma-nodule-goitre |
c.?; p.I630L; |
thyroid | adenoma-nodule-goitre |
c.?; p.A627V; |
thyroid | adenoma-nodule-goitre |
c.?; p.L512R; |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.D633Y; |
thyroid | adenoma-nodule-goitre |
c.?; p.M453T; |
thyroid | adenoma-nodule-goitre |
c.?; p.L512Q; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632A; |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632A; |
thyroid | adenoma-nodule-goitre |
c.?; p.M453T; |
thyroid | adenoma-nodule-goitre |
c.?; p.A428V; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.D619G; |
thyroid | adenoma-nodule-goitre |
c.?; p.D619G; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.L512Q; |
thyroid | adenoma-nodule-goitre |
c.?; p.I486F; |
thyroid | adenoma-nodule-goitre |
c.?; p.D633Y; |
thyroid | adenoma-nodule-goitre |
c.?; p.D619G; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.S505N; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.D633H; |
thyroid | adenoma-nodule-goitre |
c.?; p.D619G; |
thyroid | adenoma-nodule-goitre |
c.?; p.M453T; |
thyroid | adenoma-nodule-goitre |
c.?; p.M453T; |
thyroid | adenoma-nodule-goitre |
c.?; p.L629F; |
thyroid | adenoma-nodule-goitre |
c.?; p.I486N; |
thyroid | adenoma-nodule-goitre |
c.?; p.I486F; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.A623V; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.I640K; |
thyroid | adenoma-nodule-goitre |
c.?; p.A428V; |
thyroid | adenoma-nodule-goitre |
c.?; p.M453T; |
thyroid | adenoma-nodule-goitre |
c.?; p.S281N; |
thyroid | adenoma-nodule-goitre |
c.?; p.D619G; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.S281N; |
thyroid | adenoma-nodule-goitre |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | carcinoma; follicular_carcinoma |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | carcinoma; follicular_carcinoma |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | carcinoma; papillary_carcinoma |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | carcinoma; papillary_carcinoma |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1899C>A; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1899C>A; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1892T>G; p.F631C; 14:80680047-80680047 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1891T>G; p.F631V; 14:80680046-80680046 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.842G>A; p.S281N; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.1274G>T; p.S425I; 14:80679429-80679429 |
thyroid | adenoma-nodule-goitre |
c.1274G>T; p.S425I; 14:80679429-80679429 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358_1359TG>CC; p.M453T; 14:80679513-80679514 |
thyroid | adenoma-nodule-goitre |
c.1358_1359TG>CC; p.M453T; 14:80679513-80679514 |
thyroid | adenoma-nodule-goitre |
c.1456A>T; p.I486F; 14:80679611-80679611 |
thyroid | adenoma-nodule-goitre |
c.1456A>T; p.I486F; 14:80679611-80679611 |
thyroid | adenoma-nodule-goitre |
c.1514G>A; p.S505N; 14:80679669-80679669 |
thyroid | adenoma-nodule-goitre |
c.1535T>A; p.L512Q; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1535T>A; p.L512Q; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1535T>G; p.L512R; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.?; p.I568T; |
thyroid | adenoma-nodule-goitre |
c.?; p.I568T; |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.F631L; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.1894A>G; p.T632A; 14:80680049-80680049 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1915C>G; p.P639A; 14:80680070-80680070 |
thyroid | adenoma-nodule-goitre |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | carcinoma; insular_carcinoma |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | carcinoma; insular_carcinoma |
c.1894A>G; p.T632A; 14:80680049-80680049 |
thyroid | carcinoma; follicular_carcinoma |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | carcinoma; follicular_carcinoma |
c.2029C>G; p.L677V; 14:80680184-80680184 |
thyroid | carcinoma; Hurthle_cell_carcinoma |
c.1456A>T; p.I486F; 14:80679611-80679611 |
thyroid | carcinoma; follicular_carcinoma |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1867_1868GC>AT; p.A623I; 14:80680022-80680023 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | carcinoma; papillary_carcinoma |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.842G>C; p.S281T; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.842G>C; p.S281T; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.842G>A; p.S281N; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.842G>T; p.S281I; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.1535T>G; p.L512R; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1899C>G; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1458C>G; p.I486M; 14:80679613-80679613 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1887G>T; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1887G>T; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1915C>T; p.P639S; 14:80680070-80680070 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1893C>A; p.F631L; 14:80680048-80680048 |
thyroid | adenoma-nodule-goitre |
c.1893C>A; p.F631L; 14:80680048-80680048 |
thyroid | adenoma-nodule-goitre |
c.1887G>T; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1887G>C; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1887G>C; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.?; p.D619G; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.?; p.T632I; |
thyroid | adenoma-nodule-goitre |
c.1996T>C; p.F666L; 14:80680151-80680151 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.842G>C; p.S281T; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.842G>A; p.S281N; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.1274G>T; p.S425I; 14:80679429-80679429 |
thyroid | adenoma-nodule-goitre |
c.1274G>T; p.S425I; 14:80679429-80679429 |
thyroid | adenoma-nodule-goitre |
c.1291G>A; p.G431S; 14:80679446-80679446 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1387A>G; p.M463V; 14:80679542-80679542 |
thyroid | adenoma-nodule-goitre |
c.1456A>T; p.I486F; 14:80679611-80679611 |
thyroid | adenoma-nodule-goitre |
c.1456A>T; p.I486F; 14:80679611-80679611 |
thyroid | adenoma-nodule-goitre |
c.1456A>T; p.I486F; 14:80679611-80679611 |
thyroid | adenoma-nodule-goitre |
c.1535T>A; p.L512Q; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1535T>G; p.L512R; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1535T>G; p.L512R; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1535T>G; p.L512R; 14:80679690-80679690 |
thyroid | adenoma-nodule-goitre |
c.1703T>C; p.I568T; 14:80679858-80679858 |
thyroid | adenoma-nodule-goitre |
c.1703T>C; p.I568T; 14:80679858-80679858 |
thyroid | adenoma-nodule-goitre |
c.1703T>C; p.I568T; 14:80679858-80679858 |
thyroid | adenoma-nodule-goitre |
c.1703T>C; p.I568T; 14:80679858-80679858 |
thyroid | adenoma-nodule-goitre |
c.1789G>C; p.V597L; 14:80679944-80679944 |
thyroid | adenoma-nodule-goitre |
c.1789G>T; p.V597F; 14:80679944-80679944 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1856A>G; p.D619G; 14:80680011-80680011 |
thyroid | adenoma-nodule-goitre |
c.1855_1857delGAT; p.D619delD; 14:80680010-80680012 |
thyroid | adenoma-nodule-goitre |
c.1868C>T; p.A623V; 14:80680023-80680023 |
thyroid | adenoma-nodule-goitre |
c.1867_1868GC>AT; p.A623I; 14:80680022-80680023 |
thyroid | adenoma-nodule-goitre |
c.1867_1868GC>TT; p.A623F; 14:80680022-80680023 |
thyroid | adenoma-nodule-goitre |
c.1887G>C; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1887G>C; p.L629F; 14:80680042-80680042 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1891T>C; p.F631L; 14:80680046-80680046 |
thyroid | adenoma-nodule-goitre |
c.1891T>C; p.F631L; 14:80680046-80680046 |
thyroid | adenoma-nodule-goitre |
c.1891T>C; p.F631L; 14:80680046-80680046 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1899C>A; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1899C>A; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1903A>G; p.I635V; 14:80680058-80680058 |
thyroid | adenoma-nodule-goitre |
c.1966G>T; p.V656F; 14:80680121-80680121 |
thyroid | adenoma-nodule-goitre |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | carcinoma; papillary_carcinoma |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | carcinoma; papillary_carcinoma |
c.1897G>T; p.D633Y; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.842G>A; p.S281N; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.1206_1208delCGA; p.D403delD; 14:80679361-80679363 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1458C>G; p.I486M; 14:80679613-80679613 |
thyroid | adenoma-nodule-goitre |
c.1514G>A; p.S505N; 14:80679669-80679669 |
thyroid | adenoma-nodule-goitre |
c.1703T>C; p.I568T; 14:80679858-80679858 |
thyroid | adenoma-nodule-goitre |
c.1888A>C; p.I630L; 14:80680043-80680043 |
thyroid | adenoma-nodule-goitre |
c.1893C>A; p.F631L; 14:80680048-80680048 |
thyroid | adenoma-nodule-goitre |
c.1891T>A; p.F631I; 14:80680046-80680046 |
thyroid | adenoma-nodule-goitre |
c.1895C>T; p.T632I; 14:80680050-80680050 |
thyroid | adenoma-nodule-goitre |
c.1895_1896CC>TT; p.T632I; 14:80680050-80680051 |
thyroid | adenoma-nodule-goitre |
c.1897G>C; p.D633H; 14:80680052-80680052 |
thyroid | adenoma-nodule-goitre |
c.1899C>A; p.D633E; 14:80680054-80680054 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | adenoma-nodule-goitre |
c.1358T>C; p.M453T; 14:80679513-80679513 |
thyroid | carcinoma; follicular_carcinoma |
c.1702A>T; p.I568F; 14:80679857-80679857 |
thyroid | adenoma-nodule-goitre |
c.842G>T; p.S281I; 14:80675925-80675925 |
thyroid | adenoma-nodule-goitre |
c.1555C>A; p.R519S; 14:80679710-80679710 |
lung | carcinoma; adenocarcinoma |
c.1966G>A; p.V656I; 14:80680121-80680121 |
lung | carcinoma; adenocarcinoma |
c.18G>T; p.L6F; 14:80491795-80491795 |
lung | carcinoma; adenocarcinoma |
c.2101C>T; p.R701C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1015G>A; p.E339K; |
skin | malignant_melanoma |
c.181G>C; p.E61Q; 14:80598255-80598255 |
upper_aerodigestive_tract; head_neck | carcinoma |
c.1851C>A; p.D617E; |
oesophagus | carcinoma; adenocarcinoma |
c.925T>G; p.L309V; |
oesophagus | carcinoma; adenocarcinoma |
c.561T>C; p.N187N; |
stomach | carcinoma; adenocarcinoma |
c.68G>T; p.G23V; |
liver | carcinoma |
c.1192T>G; p.C398G; |
skin; trunk | malignant_melanoma; nodular |
c.485C>A; p.P162H; |
lung | carcinoma; adenocarcinoma |
c.1039C>A; p.H347N; |
lung | carcinoma; adenocarcinoma |
c.165G>A; p.Q55Q; |
lung | carcinoma; adenocarcinoma |
c.732A>T; p.K244N; |
lung | carcinoma; adenocarcinoma |
c.93_94CC>AT; p.C31_H32>*; |
lung | carcinoma; adenocarcinoma |
c.772T>A; p.W258R; |
lung | carcinoma; adenocarcinoma |
c.2084A>G; p.K695R; |
lung | carcinoma; adenocarcinoma |
c.2130G>A; p.R710R; |
lung | carcinoma; adenocarcinoma |
c.80C>G; p.P27R; |
lung | carcinoma; adenocarcinoma |
c.485C>A; p.P162H; |
lung | carcinoma; adenocarcinoma |
c.810T>G; p.L270L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.540G>A; p.L180L; |
bone | chondrosarcoma |
c.909G>A; p.E303E; |
prostate | carcinoma |
c.275T>A; p.L92Q; |
liver | carcinoma |
c.1022C>T; p.S341F; |
liver | carcinoma |
c.1185C>A; p.D395E; |
liver | carcinoma |
c.1097T>C; p.F366S; |
lung | carcinoma; small_cell_carcinoma |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | adenoma-nodule-goitre |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | adenoma-nodule-goitre |
c.1867G>T; p.A623S; 14:80680022-80680022 |
thyroid | adenoma-nodule-goitre |
c.1051C>G; p.H351D; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1020G>T; p.K340N; |
prostate | adenoma |
c.1656C>T; p.L552L; |
lung | carcinoma; adenocarcinoma |
c.1425C>A; p.L475L; |
lung | carcinoma; adenocarcinoma |
c.935G>C; p.R312T; 14:80679090-80679090 |
ovary | carcinoma; serous_carcinoma |
c.1050_1051TC>AT; p.H351Y; |
lung | carcinoma; adenocarcinoma |
c.1183G>A; p.D395N; |
ovary | carcinoma; serous_carcinoma |
c.1007G>A; p.G336E; 14:80679162-80679162 |
ovary | carcinoma; serous_carcinoma |
c.1144G>C; p.D382H; 14:80679299-80679299 |
ovary | carcinoma; serous_carcinoma |
c.945G>C; p.V315V; 14:80679100-80679100 |
ovary | carcinoma; serous_carcinoma |
c.1251G>C; p.L417L; 14:80679406-80679406 |
ovary | carcinoma; serous_carcinoma |
c.1976C>A; p.S659Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1139C>A; p.A380D; |
lung | carcinoma; adenocarcinoma |
c.1849G>A; p.D617N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2226T>A; p.I742I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1591C>A; p.R531R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1341C>A; p.N447K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2058G>C; p.Q686H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2056C>A; p.Q686K; |
lung | carcinoma; adenocarcinoma |
c.799T>A; p.L267M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1488G>A; p.T496T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1515C>T; p.S505S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1584C>A; p.R528R; |
lung | carcinoma; squamous_cell_carcinoma |
c.739G>A; p.E247K; |
breast | carcinoma |
c.1342G>A; p.V448I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.137G>A; p.R46H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.945G>T; p.V315V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.928C>A; p.R310S; |
breast | carcinoma |
c.1741G>A; p.A581T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.632A>C; p.K211T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1515C>A; p.S505R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1703T>C; p.I568T; 14:80679858-80679858 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1894A>G; p.T632A; 14:80680049-80680049 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1897G>A; p.D633N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2239C>A; p.L747I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.831T>G; p.L277L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1101C>T; p.G367G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1723G>A; p.E575K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1487C>T; p.T496M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1517A>G; p.E506G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1892T>C; p.F631S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.408T>C; p.T136T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1897G>A; p.D633N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1916C>A; p.P639Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.870G>A; p.K290K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.662T>G; p.F221C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.894C>A; p.S298S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1049C>A; p.A350D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1722C>T; p.T574T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.194G>A; p.R65K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.60C>T; p.G20G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.319G>T; p.E107*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.511G>A; p.A171T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1881_1882delTG; p.L629fs*28; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1007G>T; p.G336V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.929G>A; p.R310H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1891T>C; p.F631L; 14:80680046-80680046 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.843C>T; p.S281S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1894A>G; p.T632A; 14:80680049-80680049 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1891T>C; p.F631L; 14:80680046-80680046 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1789G>A; p.V597I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2030T>C; p.L677P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1592G>A; p.R531Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1865T>C; p.I622T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1527G>T; p.V509V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1605C>T; p.L535L; |
breast | carcinoma |
c.782A>T; p.K261M; |
breast | carcinoma |
c.559A>G; p.N187D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1370C>A; p.A457D; |
breast | carcinoma |
c.1034A>C; p.D345A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1889T>C; p.I630T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1916C>A; p.P639Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1891T>C; p.F631L; 14:80680046-80680046 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1515C>T; p.S505S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1293C>T; p.G431G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1006G>A; p.G336R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1856A>G; p.D619G; 14:80680011-80680011 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1869C>T; p.A623A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2030T>C; p.L677P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1996T>C; p.F666L; 14:80680151-80680151 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2119C>T; p.R707W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1888A>G; p.I630V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.936A>G; p.R312R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1996T>C; p.F666L; 14:80680151-80680151 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1903A>G; p.I635V; 14:80680058-80680058 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1250T>C; p.L417P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1250T>C; p.L417P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1996T>C; p.F666L; 14:80680151-80680151 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.797C>T; p.S266F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1886T>A; p.L629*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1144G>T; p.D382Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2030T>C; p.L677P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1006G>T; p.G336W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1007G>T; p.G336V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1006G>A; p.G336R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1996T>C; p.F666L; 14:80680151-80680151 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1868C>T; p.A623V; 14:80680023-80680023 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.934A>G; p.R312G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1893C>T; p.F631F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1856A>G; p.D619G; 14:80680011-80680011 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.936A>G; p.R312R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1273A>G; p.S425G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1894A>C; p.T632P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1889T>C; p.I630T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1886T>C; p.L629S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1996T>C; p.F666L; 14:80680151-80680151 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1891T>C; p.F631L; 14:80680046-80680046 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1915C>A; p.P639T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1905A>G; p.I635M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1966G>A; p.V656I; 14:80680121-80680121 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1886T>C; p.L629S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2002C>A; p.P668T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1273A>G; p.S425G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.136C>T; p.R46C; |
prostate | carcinoma; adenocarcinoma |
c.667G>T; p.G223*; |
prostate | carcinoma |
c.1127A>T; p.E376V; |
skin | malignant_melanoma |
c.1084G>A; p.E362K; |
skin | malignant_melanoma |
c.153G>A; p.P51P; |
stomach | adenocarcinoma |