| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 4137 |
Name | MAPT |
Synonymous | microtubule-associated protein tau;MAPT;microtubule-associated protein tau |
Definition | G protein beta1/gamma2 subunit-interacting factor 1|PHF-tau|neurofibrillary tangle protein|paired helical filament-tau|protein phosphatase 1, regulatory subunit 103 |
Position | 17q21.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.155C>T; p.T52I; 17:45971880-45971880 |
skin | malignant_melanoma | Substitution - Missense |
c.1102G>A; p.V368I; 17:45983906-45983906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096A>G; p.K366E; 17:45983900-45983900 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1898G>A; p.S633N; 17:46014274-46014274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1725C>A; p.S575S; 17:45996616-45996616 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1517C>T; p.P506L; 17:45996408-45996408 |
skin | malignant_melanoma | Substitution - Missense |
c.1413G>A; p.P471P; 17:45991492-45991492 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2051G>A; p.G684E; 17:46018720-46018720 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.61G>T; p.G21W; 17:45962398-45962398 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.230C>T; p.A77V; 17:45974394-45974394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.617C>A; p.A206E; 17:45983421-45983421 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.40C>T; p.H14Y; 17:45962377-45962377 |
skin | malignant_melanoma | Substitution - Missense |
c.1829C>T; p.S610L; 17:46010365-46010365 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.175C>A; p.P59T; 17:45971900-45971900 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1698C>T; p.P566P; 17:45996589-45996589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.364G>A; p.V122M; 17:45978431-45978431 |
breast | other; fibroadenoma | Substitution - Missense |
c.718G>T; p.A240S; 17:45983522-45983522 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.916G>A; p.E306K; 17:45983720-45983720 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1228C>T; p.L410F; 17:45989923-45989923 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.684C>T; p.S228S; 17:45983488-45983488 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.834G>C; p.E278D; 17:45983638-45983638 |
prostate | adenoma | Substitution - Missense |
c.603G>A; p.P201P; 17:45983407-45983407 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1090C>T; p.R364W; 17:45983894-45983894 |
liver | carcinoma | Substitution - Missense |
c.1090C>T; p.R364W; 17:45983894-45983894 |
liver | carcinoma | Substitution - Missense |
c.1090C>T; p.R364W; 17:45983894-45983894 |
liver | carcinoma | Substitution - Missense |
c.796C>T; p.P266S; 17:45983600-45983600 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1090C>T; p.R364W; 17:45983894-45983894 |
pancreas | carcinoma | Substitution - Missense |
c.147G>A; p.Q49Q; 17:45971872-45971872 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1559delC; p.P520fs*51; 17:45996450-45996450 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2184C>G; p.V728V; 17:46024078-46024078 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.120C>T; p.D40D; 17:45962457-45962457 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1366G>A; p.E456K; 17:45990061-45990061 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1043A>T; p.E348V; 17:45983847-45983847 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1323C>A; p.Y441*; 17:45990018-45990018 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1665C>A; p.S555S; 17:45996556-45996556 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1321T>C; p.Y441H; 17:45990016-45990016 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321T>C; p.Y441H; 17:45990016-45990016 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1305A>C; p.P435P; 17:45990000-45990000 |
breast | carcinoma | Substitution - coding silent |
c.985G>A; p.G329R; 17:45983789-45983789 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1323C>T; p.Y441Y; 17:45990018-45990018 |
prostate | adenoma | Substitution - coding silent |
c.1739C>A; p.T580N; 17:45996630-45996630 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.322A>G; p.I108V; 17:45978389-45978389 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2087G>A; p.R696H; 17:46023981-46023981 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1693G>A; p.V565M; 17:45996584-45996584 |
breast | carcinoma | Substitution - Missense |
c.2087G>A; p.R696H; 17:46023981-46023981 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1615G>C; p.E539Q; 17:45996506-45996506 |
breast | carcinoma | Substitution - Missense |
c.853G>A; p.D285N; 17:45983657-45983657 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.285G>A; p.T95T; 17:45974449-45974449 |
prostate | carcinoma | Substitution - coding silent |
c.2242G>A; p.E748K; 17:46024136-46024136 |
skin | malignant_melanoma | Substitution - Missense |
c.2048G>A; p.G683E; 17:46018717-46018717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1318delA; p.K440fs*18; 17:45990013-45990013 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.676G>A; p.E226K; 17:45983480-45983480 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1452C>T; p.N484N; 17:45991531-45991531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.196G>T; p.A66S; 17:45971921-45971921 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516C>T; p.P506S; 17:45996407-45996407 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1788T>C; p.N596N; 17:46010324-46010324 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.42C>T; p.H14H; 17:45962379-45962379 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.658G>A; p.E220K; 17:45983462-45983462 |
skin | malignant_melanoma | Substitution - Missense |
c.1288G>T; p.A430S; 17:45989983-45989983 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122G>A; p.E708K; 17:46024016-46024016 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1376T>G; p.L459R; 17:45990071-45990071 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1483G>A; p.A495T; 17:45991562-45991562 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.108G>T; p.E36D; 17:45962445-45962445 |
breast | carcinoma | Substitution - Missense |
c.2226C>T; p.L742L; 17:46024120-46024120 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2006C>T; p.S669L; 17:46018675-46018675 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.977C>T; p.A326V; 17:45983781-45983781 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.977C>T; p.A326V; 17:45983781-45983781 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.872G>A; p.R291Q; 17:45983676-45983676 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1711A>G; p.K571E; 17:45996602-45996602 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1242C>T; p.H414H; 17:45989937-45989937 |
skin | malignant_melanoma | Substitution - coding silent |
c.739C>T; p.Q247*; 17:45983543-45983543 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2038G>A; p.V680I; 17:46018707-46018707 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.527A>G; p.E176G; 17:45983331-45983331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.830C>T; p.T277I; 17:45983634-45983634 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472A>G; p.K491R; 17:45991551-45991551 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.635C>T; p.P212L; 17:45983439-45983439 |
skin | malignant_melanoma | Substitution - Missense |
c.858G>A; p.G286G; 17:45983662-45983662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858G>A; p.G286G; 17:45983662-45983662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858G>A; p.G286G; 17:45983662-45983662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1045G>A; p.A349T; 17:45983849-45983849 |
liver | carcinoma | Substitution - Missense |
c.1355C>A; p.S452Y; 17:45990050-45990050 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.189C>A; p.T63T; 17:45971914-45971914 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.493G>A; p.E165K; 17:45983297-45983297 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.133+2T>C; p.?; 17:45962472-45962472 |
skin | malignant_melanoma | Unknown |
c.1656G>A; p.S552S; 17:45996547-45996547 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1122C>A; p.L374L; 17:45983926-45983926 |
breast | carcinoma | Substitution - coding silent |
c.1800T>G; p.D600E; 17:46010336-46010336 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.705C>G; p.S235S; 17:45983509-45983509 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1665C>T; p.S555S; 17:45996556-45996556 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1939C>T; p.H647Y; 17:46014315-46014315 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1665C>T; p.S555S; 17:45996556-45996556 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1014G>T; p.R338R; 17:45983818-45983818 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.530A>G; p.D177G; 17:45983334-45983334 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2047G>A; p.G683R; 17:46018716-46018716 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2047G>A; p.G683R; 17:46018716-46018716 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1881C>T; p.Y627Y; 17:46014257-46014257 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.905C>T; p.T302M; 17:45983709-45983709 |
pancreas | carcinoma | Substitution - Missense |
c.749C>G; p.A250G; 17:45983553-45983553 |
prostate | carcinoma | Substitution - Missense |
c.602C>T; p.P201L; 17:45983406-45983406 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1244C>T; p.P415L; 17:45989939-45989939 |
skin | malignant_melanoma | Substitution - Missense |
c.871C>T; p.R291W; 17:45983675-45983675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.133G>T; p.E45*; 17:45962470-45962470 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.823G>A; p.V275I; 17:45983627-45983627 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.614G>A; p.G205E; 17:45983418-45983418 |
NS | malignant_melanoma | Substitution - Missense |
c.614G>A; p.G205E; 17:45983418-45983418 |
NS | malignant_melanoma | Substitution - Missense |
c.1658C>T; p.P553L; 17:45996549-45996549 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2203G>A; p.D735N; 17:46024097-46024097 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1269G>A; p.L423L; 17:45989964-45989964 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.541G>A; p.G181S; 17:45983345-45983345 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1104C>G; p.V368V; 17:45983908-45983908 |
liver | carcinoma | Substitution - coding silent |
c.672C>T; p.V224V; 17:45983476-45983476 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1129C>T; p.R377C; 17:45987042-45987042 |
skin | malignant_melanoma | Substitution - Missense |
c.1129C>T; p.R377C; 17:45987042-45987042 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.672C>T; p.V224V; 17:45983476-45983476 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1104C>G; p.V368V; 17:45983908-45983908 |
liver | carcinoma | Substitution - coding silent |
c.1129C>T; p.R377C; 17:45987042-45987042 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1531C>T; p.R511C; 17:45996422-45996422 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1553G>T; p.G518V; 17:45996444-45996444 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.100G>T; p.D34Y; 17:45962437-45962437 |
prostate | adenoma | Substitution - Missense |
c.1562G>T; p.G521V; 17:45996453-45996453 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1212G>A; p.L404L; 17:45989907-45989907 |
skin | malignant_melanoma | Substitution - coding silent |
c.1212G>A; p.L404L; 17:45989907-45989907 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.921C>T; p.I307I; 17:45983725-45983725 |
skin | malignant_melanoma | Substitution - coding silent |
c.409C>T; p.L137F; 17:45983213-45983213 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.866T>C; p.V289A; 17:45983670-45983670 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.69G>C; p.R23S; 17:45962406-45962406 |
prostate | adenoma | Substitution - Missense |
c.463G>A; p.G155R; 17:45983267-45983267 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.989C>T; p.A330V; 17:45983793-45983793 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1556delC; p.P520fs*51; 17:45996447-45996447 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.417G>A; p.E139E; 17:45983221-45983221 |
skin | malignant_melanoma | Substitution - coding silent |
c.1022C>T; p.S341F; 17:45983826-45983826 |
skin | malignant_melanoma | Substitution - Missense |
c.60delG; p.D22fs*22; 17:45962397-45962397 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1038A>T; p.T346T; 17:45983842-45983842 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2160G>A; p.T720T; 17:46024054-46024054 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.670G>A; p.V224I; 17:45983474-45983474 |
pancreas | carcinoma | Substitution - Missense |
c.1326C>G; p.V442V; 17:45990021-45990021 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1326C>G; p.V442V; 17:45990021-45990021 |
pancreas | carcinoma | Substitution - coding silent |
c.1234C>T; p.P412S; 17:45989929-45989929 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1400A>C; p.K467T; 17:45991479-45991479 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1963G>T; p.E655*; 17:46018632-46018632 |
pancreas | carcinoma | Substitution - Nonsense |
c.2001C>G; p.V667V; 17:46018670-46018670 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1632A>G; p.A544A; 17:45996523-45996523 |
breast | carcinoma | Substitution - coding silent |
c.1453G>A; p.A485T; 17:45991532-45991532 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1761G>A; p.P587P; 17:45996652-45996652 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1786delA; p.N596fs*30; 17:46010322-46010322 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2167C>T; p.R723W; 17:46024061-46024061 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2223G>A; p.Q741Q; 17:46024117-46024117 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1318A>G; p.K440E; 17:45990013-45990013 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1108C>T; p.R370W; 17:45983912-45983912 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.248G>A; p.G83E; 17:45974412-45974412 |
breast | carcinoma | Substitution - Missense |
c.1355C>G; p.S452C; 17:45990050-45990050 |
breast | carcinoma | Substitution - Missense |
c.2086C>T; p.R696C; 17:46023980-46023980 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.954G>T; p.S318S; 17:45983758-45983758 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.967G>C; p.G323R; 17:45983771-45983771 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.24C>T; p.F8F; 17:45962361-45962361 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24C>T; p.F8F; 17:45962361-45962361 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.270C>T; p.A90A; 17:45974434-45974434 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24C>T; p.F8F; 17:45962361-45962361 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.940G>C; p.E314Q; 17:45983744-45983744 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302G>A; p.E434E; 17:45989997-45989997 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2217G>A; p.S739S; 17:46024111-46024111 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1588C>T; p.P530S; 17:45996479-45996479 |
skin | malignant_melanoma | Substitution - Missense |
c.1588C>T; p.P530S; 17:45996479-45996479 |
skin | malignant_melanoma | Substitution - Missense |
c.1306_1307CC>AT; p.P436I; 17:45990001-45990002 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2112C>T; p.D704D; 17:46024006-46024006 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.667G>T; p.D223Y; 17:45983471-45983471 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1793A>C; p.K598T; 17:46010329-46010329 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.68G>A; p.R23K; 17:45962405-45962405 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1273C>T; p.Q425*; 17:45989968-45989968 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1860C>T; p.G620G; 17:46010396-46010396 |
breast | carcinoma | Substitution - coding silent |
c.905C>G; p.T302R; 17:45983709-45983709 |
pancreas; ampulla_of_Vater | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2129T>C; p.V710A; 17:46024023-46024023 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.620G>A; p.G207E; 17:45983424-45983424 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2194G>A; p.G732S; 17:46024088-46024088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724G>A; p.D242N; 17:45983528-45983528 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.184G>A; p.E62K; 17:45971909-45971909 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.689A>G; p.Q230R; 17:45983493-45983493 |
thyroid | other; neoplasm | Substitution - Missense |
c.1949G>T; p.G650V; 17:46018618-46018618 |
pancreas | NS | Substitution - Missense |
c.950A>C; p.H317P; 17:45983754-45983754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118A>G; p.Q373R; 17:45983922-45983922 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.696C>T; p.S232S; 17:45983500-45983500 |
skin | malignant_melanoma | Substitution - coding silent |
c.1783A>C; p.I595L; 17:46010319-46010319 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1460G>A; p.R487K; 17:45991539-45991539 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2007G>A; p.S669S; 17:46018676-46018676 |
skin | malignant_melanoma | Substitution - coding silent |
c.613G>A; p.G205R; 17:45983417-45983417 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.544C>T; p.R182C; 17:45983348-45983348 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.828C>T; p.S276S; 17:45983632-45983632 |
skin | malignant_melanoma | Substitution - coding silent |
c.795C>T; p.I265I; 17:45983599-45983599 |
skin | malignant_melanoma | Substitution - coding silent |
c.139C>T; p.P47S; 17:45971864-45971864 |
skin | malignant_melanoma | Substitution - Missense |