| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 10752 |
Name | CHL1 |
Synonymous | cell adhesion molecule L1-like;CHL1;cell adhesion molecule L1-like |
Definition | L1 cell adhesion molecule 2|cell adhesion molecule with homology to L1CAM (close homolog of L1)|cell adhesion molecule with homology to L1CAM (close homologue of L1)|close homolog of L1|neural cell adhesion molecule L1-like protein |
Position | 3p26.1 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2098T>G; p.F700V; 3:382593-382593 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2643G>T; p.V881V; 3:391011-391011 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2882A>T; p.N961I; 3:391765-391765 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3550G>A; p.G1184R; 3:405586-405586 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3314C>T; p.A1105V; 3:399077-399077 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3105C>T; p.I1035I; 3:398237-398237 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.351C>T; p.I117I; 3:328320-328320 |
breast | carcinoma | Substitution - coding silent |
c.2289C>T; p.Y763Y; 3:389293-389293 |
breast | carcinoma | Substitution - coding silent |
c.3549C>T; p.Y1183Y; 3:405585-405585 |
breast | carcinoma | Substitution - coding silent |
c.1879G>A; p.V627I; 3:382181-382181 |
breast | carcinoma | Substitution - Missense |
c.1456C>T; p.R486W; 3:363254-363254 |
breast | carcinoma | Substitution - Missense |
c.3055A>T; p.K1019*; 3:394833-394833 |
breast | carcinoma | Substitution - Nonsense |
c.1279C>T; p.L427F; 3:360397-360397 |
breast | carcinoma | Substitution - Missense |
c.1980G>T; p.E660D; 3:382475-382475 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1980G>T; p.E660D; 3:382475-382475 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1004C>T; p.A335V; 3:349514-349514 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.7C>T; p.P3S; 3:319783-319783 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1579A>T; p.I527F; 3:363377-363377 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1919A>C; p.Q640P; 3:382221-382221 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1440A>C; p.K480N; 3:363238-363238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.188C>A; p.P63Q; 3:326055-326055 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1288G>C; p.A430P; 3:360406-360406 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.577G>A; p.V193M; 3:341980-341980 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2281C>A; p.L761I; 3:389285-389285 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3211A>T; p.N1071Y; 3:398343-398343 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3211A>T; p.N1071Y; 3:398343-398343 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2744G>A; p.G915E; 3:391112-391112 |
central_nervous_system; cerebrum | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.197+1G>A; p.?; 3:326065-326065 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.197+1G>A; p.?; 3:326065-326065 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.3184C>T; p.R1062C; 3:398316-398316 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.505A>G; p.I169V; 3:340913-340913 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1015T>G; p.F339V; 3:349525-349525 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1884G>A; p.P628P; 3:382186-382186 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.85T>C; p.S29P; 3:319861-319861 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2435A>G; p.D812G; 3:389439-389439 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2008G>T; p.E670*; 3:382503-382503 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.982G>A; p.A328T; 3:349492-349492 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3254-1G>T; p.?; 3:399016-399016 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2063T>C; p.V688A; 3:382558-382558 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1342A>C; p.N448H; 3:361734-361734 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1852G>A; p.D618N; 3:377918-377918 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3208G>A; p.D1070N; 3:398340-398340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.245G>A; p.R82Q; 3:328214-328214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1301T>C; p.V434A; 3:360419-360419 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1503C>T; p.T501T; 3:363301-363301 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1909T>A; p.S637T; 3:382211-382211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.203C>T; p.S68L; 3:328172-328172 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1197C>T; p.P399P; 3:360315-360315 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3382T>G; p.S1128A; 3:399145-399145 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1389C>A; p.F463L; 3:361781-361781 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.46T>C; p.F16L; 3:319822-319822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2700C>A; p.A900A; 3:391068-391068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1583G>T; p.R528I; 3:363381-363381 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1053G>T; p.K351N; 3:354659-354659 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1538A>G; p.E513G; 3:363336-363336 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.370G>T; p.E124*; 3:328339-328339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.370G>T; p.E124*; 3:328339-328339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1886_1887insTCC; p.P631_E632insP; 3:382188-382189 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - In frame |
c.1934G>A; p.R645Q; 3:382236-382236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.814G>A; p.E272K; 3:344675-344675 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.70G>A; p.A24T; 3:319846-319846 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3667C>T; p.R1223W; 3:405703-405703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.439G>T; p.D147Y; 3:340847-340847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1567G>A; p.A523T; 3:363365-363365 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1558G>A; p.A520T; 3:363356-363356 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.670G>T; p.V224F; 3:342073-342073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.258G>A; p.S86S; 3:328227-328227 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.522C>T; p.I174I; 3:341925-341925 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1383C>T; p.C461C; 3:361775-361775 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1977C>T; p.S659S; 3:382279-382279 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1520C>A; p.S507Y; 3:363318-363318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2868G>T; p.K956N; 3:391751-391751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2205G>T; p.R735S; 3:383844-383844 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.2938G>A; p.E980K; 3:394716-394716 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.49C>T; p.L17F; 3:319825-319825 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2217T>C; p.S739S; 3:383856-383856 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.110T>A; p.I37N; 3:325977-325977 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3428C>T; p.S1143L; 3:401668-401668 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.526C>A; p.Q176K; 3:341929-341929 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3386-2A>T; p.?; 3:401624-401624 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.873C>A; p.N291K; 3:349383-349383 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3105C>A; p.I1035I; 3:398237-398237 |
large_intestine; colon | NS | Substitution - coding silent |
c.1673C>T; p.S558L; 3:366037-366037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.351C>T; p.I117I; 3:328320-328320 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.144_145insA; p.F49fs*3; 3:326011-326012 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2962A>C; p.T988P; 3:394740-394740 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313G>A; p.R438H; 3:361705-361705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313G>A; p.R438H; 3:361705-361705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2351A>C; p.H784P; 3:389355-389355 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1363T>C; p.Y455H; 3:361755-361755 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3128T>G; p.L1043R; 3:398260-398260 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.224C>A; p.P75H; 3:328193-328193 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.975C>T; p.R325R; 3:349485-349485 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1776G>T; p.L592F; 3:377842-377842 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3474G>T; p.K1158N; 3:405510-405510 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1011C>T; p.H337H; 3:349521-349521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1647A>G; p.E549E; 3:366011-366011 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3208G>A; p.D1070N; 3:398340-398340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1987G>T; p.V663F; 3:382482-382482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3391G>A; p.E1131K; 3:401631-401631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2347A>C; p.N783H; 3:389351-389351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.681A>G; p.L227L; 3:342985-342985 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.681A>G; p.L227L; 3:342985-342985 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2586G>T; p.Q862H; 3:390816-390816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.203C>T; p.S68L; 3:328172-328172 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.203C>T; p.S68L; 3:328172-328172 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3643A>C; p.S1215R; 3:405679-405679 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1348G>A; p.A450T; 3:361740-361740 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2886A>C; p.L962F; 3:391769-391769 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2036C>G; p.T679S; 3:382531-382531 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1410C>A; p.V470V; 3:361802-361802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.983C>T; p.A328V; 3:349493-349493 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2173G>A; p.A725T; 3:382668-382668 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1411G>A; p.V471M; 3:361803-361803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1205T>A; p.I402N; 3:360323-360323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.612C>T; p.C204C; 3:342015-342015 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.612C>T; p.C204C; 3:342015-342015 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.612C>T; p.C204C; 3:342015-342015 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1279C>A; p.L427I; 3:360397-360397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1310T>C; p.V437A; 3:361702-361702 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2467G>T; p.D823Y; 3:389471-389471 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.571G>A; p.A191T; 3:341974-341974 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618_1619CC>AA; p.P540>?; 3:365982-365983 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex |
c.2043C>A; p.V681V; 3:382538-382538 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.805C>A; p.L269I; 3:344666-344666 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3165G>A; p.P1055P; 3:398297-398297 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2907T>C; p.Y969Y; 3:391790-391790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2202A>G; p.I734M; 3:383841-383841 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2358G>A; p.L786L; 3:389362-389362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1780A>G; p.I594V; 3:377846-377846 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.661A>C; p.K221Q; 3:342064-342064 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.758T>G; p.L253R; 3:344619-344619 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.307T>C; p.F103L; 3:328276-328276 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2222C>A; p.P741H; 3:383861-383861 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.244C>T; p.R82W; 3:328213-328213 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49C>T; p.L17F; 3:319825-319825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49C>T; p.L17F; 3:319825-319825 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1296T>C; p.I432I; 3:360414-360414 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2085T>C; p.F695F; 3:382580-382580 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.512T>C; p.L171S; 3:341915-341915 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.71C>T; p.A24V; 3:319847-319847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096T>C; p.L366L; 3:354702-354702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1625T>A; p.I542N; 3:365989-365989 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2530G>A; p.V844I; 3:390760-390760 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280T>C; p.L427P; 3:360398-360398 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.734C>A; p.S245Y; 3:344595-344595 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2589A>C; p.I863I; 3:390957-390957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3494G>A; p.R1165Q; 3:405530-405530 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.523G>A; p.E175K; 3:341926-341926 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2161G>T; p.E721*; 3:382656-382656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2939A>C; p.E980A; 3:394717-394717 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3210T>C; p.D1070D; 3:398342-398342 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3210T>C; p.D1070D; 3:398342-398342 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2136G>A; p.Q712Q; 3:382631-382631 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.746G>T; p.R249I; 3:344607-344607 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2229A>C; p.E743D; 3:383868-383868 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3586T>G; p.S1196A; 3:405622-405622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.726G>T; p.K242N; 3:343030-343030 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1933C>T; p.R645W; 3:382235-382235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2590A>C; p.N864H; 3:390958-390958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1734T>C; p.N578N; 3:366098-366098 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.843A>G; p.E281E; 3:344704-344704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3550G>A; p.G1184R; 3:405586-405586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.125A>C; p.K42T; 3:325992-325992 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.727+4A>G; p.?; 3:343035-343035 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2734A>G; p.N912D; 3:391102-391102 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2633C>T; p.P878L; 3:391001-391001 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1339G>T; p.E447*; 3:361731-361731 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3127C>G; p.L1043V; 3:398259-398259 |
liver | carcinoma | Substitution - Missense |
c.3127C>G; p.L1043V; 3:398259-398259 |
liver | carcinoma | Substitution - Missense |
c.2503G>T; p.D835Y; 3:390733-390733 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3093G>A; p.G1031G; 3:394871-394871 |
liver | carcinoma | Substitution - coding silent |
c.3093G>A; p.G1031G; 3:394871-394871 |
liver | carcinoma | Substitution - coding silent |
c.1982A>G; p.Y661C; 3:382477-382477 |
liver | carcinoma | Substitution - Missense |
c.2498G>T; p.G833V; 3:390728-390728 |
liver | carcinoma | Substitution - Missense |
c.2411T>C; p.I804T; 3:389415-389415 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.86C>T; p.S29F; 3:319862-319862 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3028A>G; p.R1010G; 3:394806-394806 |
liver | carcinoma | Substitution - Missense |
c.1942T>A; p.W648R; 3:382244-382244 |
liver | carcinoma | Substitution - Missense |
c.1942T>A; p.W648R; 3:382244-382244 |
liver | carcinoma | Substitution - Missense |
c.3393A>G; p.E1131E; 3:401633-401633 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.3393A>G; p.E1131E; 3:401633-401633 |
liver | carcinoma | Substitution - coding silent |
c.2565T>A; p.H855Q; 3:390795-390795 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2823C>A; p.I941I; 3:391706-391706 |
liver | carcinoma | Substitution - coding silent |
c.1232A>G; p.H411R; 3:360350-360350 |
liver | carcinoma | Substitution - Missense |
c.1444C>T; p.L482L; 3:363242-363242 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.570C>T; p.F190F; 3:341973-341973 |
liver | carcinoma | Substitution - coding silent |
c.1008T>G; p.T336T; 3:349518-349518 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2856G>T; p.W952C; 3:391739-391739 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2386C>A; p.P796T; 3:389390-389390 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1600A>G; p.R534G; 3:365964-365964 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1933C>A; p.R645R; 3:382235-382235 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1721C>G; p.A574G; 3:366085-366085 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3506_3507GG>TT; p.R1169I; 3:405542-405543 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1041T>C; p.P347P; 3:354647-354647 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1574T>C; p.L525S; 3:363372-363372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.618T>A; p.A206A; 3:342021-342021 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2569C>A; p.R857S; 3:390799-390799 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2471-1G>T; p.?; 3:390700-390700 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2369C>G; p.T790R; 3:389373-389373 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1198A>C; p.R400R; 3:360316-360316 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2783C>T; p.P928L; 3:391151-391151 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2171C>T; p.P724L; 3:382666-382666 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9G>T; p.P3P; 3:319785-319785 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3603C>A; p.Y1201*; 3:405639-405639 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2115G>T; p.V705V; 3:382610-382610 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.848T>G; p.L283W; 3:344709-344709 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1404G>T; p.E468D; 3:361796-361796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.294G>T; p.G98G; 3:328263-328263 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3663C>A; p.P1221P; 3:405699-405699 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.950C>T; p.S317F; 3:349460-349460 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3575G>A; p.S1192N; 3:405611-405611 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1196C>A; p.P399H; 3:360314-360314 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2473C>A; p.P825T; 3:390703-390703 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1205T>A; p.I402N; 3:360323-360323 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3580G>T; p.D1194Y; 3:405616-405616 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1028T>A; p.V343E; 3:349538-349538 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2564A>G; p.H855R; 3:390794-390794 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2806A>T; p.T936S; 3:391689-391689 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>A; p.E259K; 3:344636-344636 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2505C>A; p.D835E; 3:390735-390735 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3555G>T; p.E1185D; 3:405591-405591 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1645G>C; p.E549Q; 3:366009-366009 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787G>A; p.E263K; 3:344648-344648 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3383C>G; p.S1128*; 3:399146-399146 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1770T>A; p.A590A; 3:377836-377836 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2408C>A; p.A803D; 3:389412-389412 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3204G>T; p.W1068C; 3:398336-398336 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3162G>T; p.E1054D; 3:398294-398294 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.479C>G; p.P160R; 3:340887-340887 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3628G>A; p.V1210I; 3:405664-405664 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1784C>A; p.S595Y; 3:377850-377850 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3310T>A; p.C1104S; 3:399073-399073 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1422G>T; p.Q474H; 3:363220-363220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3416C>A; p.P1139Q; 3:401656-401656 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2744G>T; p.G915V; 3:391112-391112 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2106C>A; p.V702V; 3:382601-382601 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1154C>A; p.S385Y; 3:354760-354760 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3494G>A; p.R1165Q; 3:405530-405530 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2076G>T; p.L692F; 3:382571-382571 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2058C>T; p.T686T; 3:382553-382553 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2003A>T; p.N668I; 3:382498-382498 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2227_2228insA; p.M744fs*55; 3:383866-383867 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2763G>T; p.E921D; 3:391131-391131 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.514G>A; p.E172K; 3:341917-341917 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.596G>A; p.R199H; 3:341999-341999 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2753C>T; p.P918L; 3:391121-391121 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>T; p.V143L; 3:340835-340835 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1146C>A; p.V382V; 3:354752-354752 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3270T>C; p.Y1090Y; 3:399033-399033 |
NS | NS | Substitution - coding silent |
c.2167C>T; p.P723S; 3:382662-382662 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3420A>C; p.E1140D; 3:401660-401660 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3207C>T; p.G1069G; 3:398339-398339 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.217G>T; p.G73C; 3:328186-328186 |
oesophagus | carcinoma | Substitution - Missense |
c.2438C>G; p.P813R; 3:389442-389442 |
oesophagus | carcinoma | Substitution - Missense |
c.3418G>T; p.E1140*; 3:401658-401658 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2403C>A; p.V801V; 3:389407-389407 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2914A>C; p.I972L; 3:391797-391797 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.700A>C; p.S234R; 3:343004-343004 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.106A>T; p.T36S; 3:325973-325973 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.700A>G; p.S234G; 3:343004-343004 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.700A>G; p.S234G; 3:343004-343004 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1428G>T; p.V476V; 3:363226-363226 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.727+4A>C; p.?; 3:343035-343035 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1947A>C; p.E649D; 3:382249-382249 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.888C>T; p.D296D; 3:349398-349398 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1171C>G; p.P391A; 3:360289-360289 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.136G>T; p.A46S; 3:326003-326003 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.263A>C; p.N88T; 3:328232-328232 |
ovary | other; neoplasm | Substitution - Missense |
c.263A>C; p.N88T; 3:328232-328232 |
ovary | other; neoplasm | Substitution - Missense |
c.3395A>T; p.K1132M; 3:401635-401635 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1491C>T; p.I497I; 3:363289-363289 |
pancreas | carcinoma | Substitution - coding silent |
c.433G>T; p.E145*; 3:340841-340841 |
pancreas | carcinoma | Substitution - Nonsense |
c.747A>T; p.R249S; 3:344608-344608 |
pancreas | carcinoma | Substitution - Missense |
c.1706G>A; p.S569N; 3:366070-366070 |
pancreas | carcinoma | Substitution - Missense |
c.700A>C; p.S234R; 3:343004-343004 |
pancreas | carcinoma | Substitution - Missense |
c.1563C>G; p.V521V; 3:363361-363361 |
pancreas | carcinoma | Substitution - coding silent |
c.3100G>T; p.G1034C; 3:398232-398232 |
pancreas | carcinoma | Substitution - Missense |
c.1419-7T>C; p.?; 3:363210-363210 |
pancreas | carcinoid-endocrine_tumour | Unknown |
c.1878T>C; p.D626D; 3:382180-382180 |
pancreas | carcinoma | Substitution - coding silent |
c.1878T>C; p.D626D; 3:382180-382180 |
pancreas | carcinoma | Substitution - coding silent |
c.145T>A; p.F49I; 3:326012-326012 |
parathyroid | adenoma | Substitution - Missense |
c.749A>C; p.K250T; 3:344610-344610 |
prostate | carcinoma | Substitution - Missense |
c.1361G>A; p.G454E; 3:361753-361753 |
prostate | adenoma | Substitution - Missense |
c.2780C>T; p.T927I; 3:391148-391148 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1348G>A; p.A450T; 3:361740-361740 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3167G>T; p.G1056V; 3:398299-398299 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.8C>T; p.P3L; 3:319784-319784 |
prostate | carcinoma | Substitution - Missense |
c.3551G>A; p.G1184E; 3:405587-405587 |
prostate | carcinoma | Substitution - Missense |
c.144C>A; p.P48P; 3:326011-326011 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.234C>T; p.F78F; 3:328203-328203 |
skin | malignant_melanoma | Substitution - coding silent |
c.1751+1G>T; p.?; 3:366116-366116 |
skin | malignant_melanoma | Unknown |
c.1751+1G>T; p.?; 3:366116-366116 |
skin | malignant_melanoma | Unknown |
c.965G>A; p.G322E; 3:349475-349475 |
skin | malignant_melanoma | Substitution - Missense |
c.965G>A; p.G322E; 3:349475-349475 |
skin | malignant_melanoma | Substitution - Missense |
c.902G>A; p.R301K; 3:349412-349412 |
skin | malignant_melanoma | Substitution - Missense |
c.898G>C; p.G300R; 3:349408-349408 |
skin | malignant_melanoma | Substitution - Missense |
c.3556G>A; p.G1186R; 3:405592-405592 |
skin | malignant_melanoma | Substitution - Missense |
c.3616G>A; p.E1206K; 3:405652-405652 |
skin | malignant_melanoma | Substitution - Missense |
c.2273G>A; p.G758E; 3:389277-389277 |
skin | malignant_melanoma | Substitution - Missense |
c.3218G>A; p.S1073N; 3:398350-398350 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.47T>A; p.F16Y; 3:319823-319823 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3623G>A; p.G1208E; 3:405659-405659 |
skin | malignant_melanoma | Substitution - Missense |
c.2030A>T; p.E677V; 3:382525-382525 |
skin | malignant_melanoma | Substitution - Missense |
c.1194C>T; p.F398F; 3:360312-360312 |
skin | malignant_melanoma | Substitution - coding silent |
c.3573C>A; p.F1191L; 3:405609-405609 |
skin | malignant_melanoma | Substitution - Missense |
c.1374C>T; p.F458F; 3:361766-361766 |
skin | malignant_melanoma | Substitution - coding silent |
c.2028G>A; p.E676E; 3:382523-382523 |
skin; back | malignant_melanoma | Substitution - coding silent |
c.391C>T; p.P131S; 3:340799-340799 |
skin | malignant_melanoma | Substitution - Missense |
c.3092G>A; p.G1031E; 3:394870-394870 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3092G>A; p.G1031E; 3:394870-394870 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.477C>T; p.L159L; 3:340885-340885 |
skin | malignant_melanoma | Substitution - coding silent |
c.1987G>T; p.V663F; 3:382482-382482 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1504G>A; p.E502K; 3:363302-363302 |
skin | malignant_melanoma | Substitution - Missense |
c.712G>A; p.E238K; 3:343016-343016 |
skin | malignant_melanoma | Substitution - Missense |
c.2686C>T; p.P896S; 3:391054-391054 |
skin | malignant_melanoma | Substitution - Missense |
c.3516G>T; p.Q1172H; 3:405552-405552 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1429G>A; p.E477K; 3:363227-363227 |
skin | malignant_melanoma | Substitution - Missense |
c.508G>A; p.E170K; 3:340916-340916 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2204G>A; p.R735K; 3:383843-383843 |
skin | malignant_melanoma | Substitution - Missense |
c.2360G>A; p.R787Q; 3:389364-389364 |
skin | malignant_melanoma | Substitution - Missense |
c.2423G>A; p.G808E; 3:389427-389427 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2253G>A; p.L751L; 3:389257-389257 |
skin | malignant_melanoma | Substitution - coding silent |
c.478C>T; p.P160S; 3:340886-340886 |
skin | malignant_melanoma | Substitution - Missense |
c.203C>T; p.S68L; 3:328172-328172 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.203C>T; p.S68L; 3:328172-328172 |
skin | malignant_melanoma | Substitution - Missense |
c.203C>T; p.S68L; 3:328172-328172 |
skin | malignant_melanoma | Substitution - Missense |
c.3544G>A; p.E1182K; 3:405580-405580 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2621G>A; p.G874E; 3:390989-390989 |
skin | malignant_melanoma | Substitution - Missense |
c.2621G>A; p.G874E; 3:390989-390989 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.993C>T; p.F331F; 3:349503-349503 |
skin | malignant_melanoma | Substitution - coding silent |
c.2226G>A; p.K742K; 3:383865-383865 |
skin | malignant_melanoma | Substitution - coding silent |
c.4G>A; p.E2K; 3:319780-319780 |
skin | malignant_melanoma | Substitution - Missense |
c.4G>A; p.E2K; 3:319780-319780 |
skin | malignant_melanoma | Substitution - Missense |
c.1926G>A; p.R642R; 3:382228-382228 |
skin | malignant_melanoma | Substitution - coding silent |
c.2232G>A; p.M744I; 3:383871-383871 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.2691C>T; p.S897S; 3:391059-391059 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2690C>T; p.S897F; 3:391058-391058 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2690C>T; p.S897F; 3:391058-391058 |
skin | malignant_melanoma | Substitution - Missense |
c.1626C>T; p.I542I; 3:365990-365990 |
skin | malignant_melanoma | Substitution - coding silent |
c.1498A>G; p.T500A; 3:363296-363296 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2119G>A; p.E707K; 3:382614-382614 |
skin | malignant_melanoma | Substitution - Missense |
c.2764C>T; p.P922S; 3:391132-391132 |
skin | malignant_melanoma | Substitution - Missense |
c.304C>T; p.H102Y; 3:328273-328273 |
skin | malignant_melanoma | Substitution - Missense |
c.481C>T; p.P161S; 3:340889-340889 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3587C>T; p.S1196L; 3:405623-405623 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2908C>T; p.Q970*; 3:391791-391791 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2908C>T; p.Q970*; 3:391791-391791 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1018C>T; p.H340Y; 3:349528-349528 |
skin | malignant_melanoma | Substitution - Missense |
c.2566G>A; p.G856R; 3:390796-390796 |
skin | malignant_melanoma | Substitution - Missense |
c.1706G>A; p.S569N; 3:366070-366070 |
skin | malignant_melanoma | Substitution - Missense |
c.142C>T; p.P48S; 3:326009-326009 |
skin | malignant_melanoma | Substitution - Missense |
c.2973G>A; p.K991K; 3:394751-394751 |
skin | malignant_melanoma | Substitution - coding silent |
c.589G>A; p.D197N; 3:341992-341992 |
skin | malignant_melanoma | Substitution - Missense |
c.1935G>A; p.R645R; 3:382237-382237 |
skin | malignant_melanoma | Substitution - coding silent |
c.3397G>A; p.E1133K; 3:401637-401637 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.321_322CC>TT; p.R108C; 3:328290-328291 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3253+10G>A; p.?; 3:398395-398395 |
skin; trunk | malignant_melanoma; nodular | Unknown |
c.2663G>A; p.G888E; 3:391031-391031 |
skin | malignant_melanoma | Substitution - Missense |
c.1621C>T; p.R541C; 3:365985-365985 |
skin | malignant_melanoma | Substitution - Missense |
c.915A>C; p.E305D; 3:349425-349425 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3070G>A; p.E1024K; 3:394848-394848 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1012G>A; p.D338N; 3:349522-349522 |
skin | malignant_melanoma | Substitution - Missense |
c.1012G>A; p.D338N; 3:349522-349522 |
skin | malignant_melanoma | Substitution - Missense |
c.2713C>T; p.H905Y; 3:391081-391081 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.466C>T; p.P156S; 3:340874-340874 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.63C>T; p.F21F; 3:319839-319839 |
skin | malignant_melanoma | Substitution - coding silent |
c.501G>A; p.M167I; 3:340909-340909 |
skin | malignant_melanoma | Substitution - Missense |
c.3214G>A; p.D1072N; 3:398346-398346 |
skin | malignant_melanoma | Substitution - Missense |
c.2176G>A; p.A726T; 3:382671-382671 |
skin | malignant_melanoma | Substitution - Missense |
c.104C>T; p.P35L; 3:325971-325971 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.104C>T; p.P35L; 3:325971-325971 |
skin | malignant_melanoma | Substitution - Missense |
c.104C>T; p.P35L; 3:325971-325971 |
skin | malignant_melanoma | Substitution - Missense |
c.2047G>A; p.G683R; 3:382542-382542 |
skin | malignant_melanoma | Substitution - Missense |
c.3047G>A; p.G1016D; 3:394825-394825 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.94C>T; p.Q32*; 3:325961-325961 |
skin | malignant_melanoma | Substitution - Nonsense |
c.94C>T; p.Q32*; 3:325961-325961 |
skin | malignant_melanoma | Substitution - Nonsense |
c.877A>C; p.I293L; 3:349387-349387 |
skin | malignant_melanoma | Substitution - Missense |
c.1200G>A; p.R400R; 3:360318-360318 |
skin | malignant_melanoma | Substitution - coding silent |
c.3493C>T; p.R1165W; 3:405529-405529 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.3488G>A; p.S1163N; 3:405524-405524 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1502C>T; p.T501I; 3:363300-363300 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2622A>T; p.G874G; 3:390990-390990 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.2392G>A; p.D798N; 3:389396-389396 |
skin | malignant_melanoma | Substitution - Missense |
c.1933C>T; p.R645W; 3:382235-382235 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1889C>T; p.P630L; 3:382191-382191 |
skin | malignant_melanoma | Substitution - Missense |
c.2735A>C; p.N912T; 3:391103-391103 |
skin | malignant_melanoma | Substitution - Missense |
c.2677G>A; p.G893R; 3:391045-391045 |
skin | malignant_melanoma | Substitution - Missense |
c.2288A>G; p.Y763C; 3:389292-389292 |
soft_tissue; striated_muscle | rhabdomyosarcoma; sclerosing | Substitution - Missense |
c.1411G>T; p.V471L; 3:361803-361803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.351C>T; p.I117I; 3:328320-328320 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1771A>G; p.N591D; 3:377837-377837 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3045G>T; p.Q1015H; 3:394823-394823 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3164C>T; p.P1055L; 3:398296-398296 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2515A>C; p.S839R; 3:390745-390745 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2407G>T; p.A803S; 3:389411-389411 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.3460G>T; p.D1154Y; 3:405496-405496 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3659T>A; p.F1220Y; 3:405695-405695 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1958A>C; p.D653A; 3:382260-382260 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1242G>A; p.V414V; 3:360360-360360 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.548G>T; p.S183I; 3:341951-341951 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2463A>T; p.G821G; 3:389467-389467 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.388G>A; p.V130I; 3:340796-340796 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1613A>G; p.K538R; 3:365977-365977 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.49C>T; p.L17F; 3:319825-319825 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3385+2T>C; p.?; 3:399150-399150 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.3494G>A; p.R1165Q; 3:405530-405530 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3128T>C; p.L1043P; 3:398260-398260 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1286A>G; p.N429S; 3:360404-360404 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2370G>A; p.T790T; 3:389374-389374 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3128T>A; p.L1043H; 3:398260-398260 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.483T>G; p.P161P; 3:340891-340891 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1383C>T; p.C461C; 3:361775-361775 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3345T>G; p.T1115T; 3:399108-399108 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3550G>A; p.G1184R; 3:405586-405586 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.902G>A; p.R301K; 3:349412-349412 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3616G>A; p.E1206K; 3:405652-405652 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3616G>A; p.E1206K; 3:405652-405652 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1933C>T; p.R645W; 3:382235-382235 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3254-1G>A; p.?; 3:399016-399016 |
urinary_tract; bladder | carcinoma | Unknown |
c.1308T>A; p.D436E; 3:361700-361700 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2703T>C; p.F901F; 3:391071-391071 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.119A>T; p.Q40L; 3:325986-325986 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2176+2T>A; p.?; 3:382673-382673 |
urinary_tract; bladder | carcinoma | Unknown |
c.2683G>C; p.V895L; 3:391051-391051 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2683G>C; p.V895L; 3:391051-391051 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2666A>G; p.Q889R; 3:391034-391034 |
urinary_tract; bladder | carcinoma | Substitution - Missense |