| Gene ID | 7100 |
| Symbol | TLR5 |
| Synonymous | MELIOS|SLE1|SLEB1|TIL3 |
| Full name | toll-like receptor 5 |
| Gene description | systemic lupus erythematosus susceptibility 1|toll/interleukin-1 receptor-like protein 3 |
| Cytoband | 1q41-q42 |
| Gene type | protein-coding |
| Synonymous | MIM:603031; HGNC:HGNC:11851; Ensembl:ENSG00000187554; HPRD:04326 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.340G>T; p.A114S; 1:223112692-223112692 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.219G>A; p.Q73Q; 1:223112813-223112813 |
skin | malignant_melanoma | Substitution - coding silent |
c.1044G>T; p.L348L; 1:223111988-223111988 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1129G>A; p.D377N; 1:223111903-223111903 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1495G>A; p.E499K; 1:223111537-223111537 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.288C>A; p.N96K; 1:223112744-223112744 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.288C>A; p.N96K; 1:223112744-223112744 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2107G>T; p.D703Y; 1:223110925-223110925 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526_527insT; p.D176fs*12; 1:223112505-223112506 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.813C>T; p.F271F; 1:223112219-223112219 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.200C>A; p.P67H; 1:223112832-223112832 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1940C>T; p.T647I; 1:223111092-223111092 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1533T>A; p.H511Q; 1:223111499-223111499 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.240G>A; p.Q80Q; 1:223112792-223112792 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1348C>A; p.L450I; 1:223111684-223111684 |
breast | carcinoma | Substitution - Missense |
c.2424C>A; p.G808G; 1:223110608-223110608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.982G>A; p.A328T; 1:223112050-223112050 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.799G>A; p.A267T; 1:223112233-223112233 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.477C>T; p.S159S; 1:223112555-223112555 |
skin | malignant_melanoma | Substitution - coding silent |
c.232G>A; p.G78R; 1:223112800-223112800 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2571C>T; p.I857I; 1:223110461-223110461 |
breast | carcinoma | Substitution - coding silent |
c.1464C>A; p.A488A; 1:223111568-223111568 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1464C>A; p.A488A; 1:223111568-223111568 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2080G>A; p.D694N; 1:223110952-223110952 |
skin | malignant_melanoma | Substitution - Missense |
c.1737C>G; p.N579K; 1:223111295-223111295 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.124C>T; p.P42S; 1:223112908-223112908 |
skin | malignant_melanoma | Substitution - Missense |
c.200C>T; p.P67L; 1:223112832-223112832 |
skin | malignant_melanoma | Substitution - Missense |
c.570C>T; p.L190L; 1:223112462-223112462 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.570C>T; p.L190L; 1:223112462-223112462 |
skin | malignant_melanoma | Substitution - coding silent |
c.101G>A; p.R34H; 1:223112931-223112931 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2459A>C; p.E820A; 1:223110573-223110573 |
oesophagus | carcinoma | Substitution - Missense |
c.1846T>C; p.F616L; 1:223111186-223111186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1587G>A; p.R529R; 1:223111445-223111445 |
skin | malignant_melanoma | Substitution - coding silent |
c.2567C>A; p.T856N; 1:223110465-223110465 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1219G>A; p.D407N; 1:223111813-223111813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1219G>A; p.D407N; 1:223111813-223111813 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.85C>T; p.R29*; 1:223112947-223112947 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2318G>A; p.S773N; 1:223110714-223110714 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1294G>A; p.E432K; 1:223111738-223111738 |
skin | malignant_melanoma | Substitution - Missense |
c.549C>A; p.F183L; 1:223112483-223112483 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1312C>A; p.L438I; 1:223111720-223111720 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.674A>C; p.N225T; 1:223112358-223112358 |
oesophagus | carcinoma | Substitution - Missense |
c.2097C>A; p.F699L; 1:223110935-223110935 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1479C>T; p.L493L; 1:223111553-223111553 |
skin | malignant_melanoma | Substitution - coding silent |
c.1014C>T; p.L338L; 1:223112018-223112018 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1267C>A; p.L423I; 1:223111765-223111765 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1656C>T; p.I552I; 1:223111376-223111376 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.1A>G; p.M1V; 1:223113031-223113031 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.1686_1687insT; p.P563fs*2; 1:223111345-223111346 |
breast | carcinoma | Insertion - Frameshift |
c.2136C>G; p.L712L; 1:223110896-223110896 |
breast | carcinoma | Substitution - coding silent |
c.64C>T; p.P22S; 1:223112968-223112968 |
skin | malignant_melanoma | Substitution - Missense |
c.731G>A; p.G244E; 1:223112301-223112301 |
skin | malignant_melanoma | Substitution - Missense |
c.1380C>A; p.F460L; 1:223111652-223111652 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1124T>G; p.I375S; 1:223111908-223111908 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.596C>T; p.S199F; 1:223112436-223112436 |
skin | malignant_melanoma | Substitution - Missense |
c.596C>T; p.S199F; 1:223112436-223112436 |
skin | malignant_melanoma | Substitution - Missense |
c.802G>A; p.G268R; 1:223112230-223112230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2262C>T; p.I754I; 1:223110770-223110770 |
skin | malignant_melanoma | Substitution - coding silent |
c.929C>T; p.T310I; 1:223112103-223112103 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2262C>T; p.I754I; 1:223110770-223110770 |
skin | malignant_melanoma | Substitution - coding silent |
c.866C>T; p.S289L; 1:223112166-223112166 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1404C>A; p.T468T; 1:223111628-223111628 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.84C>T; p.G28G; 1:223112948-223112948 |
breast | carcinoma | Substitution - coding silent |
c.610G>T; p.A204S; 1:223112422-223112422 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1171C>T; p.L391F; 1:223111861-223111861 |
skin | malignant_melanoma | Substitution - Missense |
c.1723G>A; p.D575N; 1:223111309-223111309 |
skin | malignant_melanoma | Substitution - Missense |
c.1048G>A; p.E350K; 1:223111984-223111984 |
skin | malignant_melanoma | Substitution - Missense |
c.2004T>C; p.F668F; 1:223111028-223111028 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.848C>T; p.A283V; 1:223112184-223112184 |
skin | malignant_melanoma | Substitution - Missense |
c.848C>T; p.A283V; 1:223112184-223112184 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.571G>T; p.E191*; 1:223112461-223112461 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1042C>T; p.L348L; 1:223111990-223111990 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1027T>G; p.L343V; 1:223112005-223112005 |
skin | malignant_melanoma | Substitution - Missense |
c.1404C>T; p.T468T; 1:223111628-223111628 |
skin | malignant_melanoma | Substitution - coding silent |
c.1519C>A; p.L507M; 1:223111513-223111513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2262C>A; p.I754I; 1:223110770-223110770 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.603delT; p.F201fs*20; 1:223112429-223112429 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1388G>C; p.C463S; 1:223111644-223111644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.62T>G; p.I21S; 1:223112970-223112970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.549C>T; p.F183F; 1:223112483-223112483 |
skin | malignant_melanoma | Substitution - coding silent |
c.1579G>A; p.A527T; 1:223111453-223111453 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.445C>T; p.R149C; 1:223112587-223112587 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2375T>C; p.V792A; 1:223110657-223110657 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1880A>T; p.E627V; 1:223111152-223111152 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.445C>T; p.R149C; 1:223112587-223112587 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.445C>T; p.R149C; 1:223112587-223112587 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2366T>C; p.M789T; 1:223110666-223110666 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.792C>A; p.I264I; 1:223112240-223112240 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.699T>G; p.V233V; 1:223112333-223112333 |
skin | malignant_melanoma | Substitution - coding silent |
c.2390A>G; p.Q797R; 1:223110642-223110642 |
breast | carcinoma | Substitution - Missense |
c.526G>T; p.D176Y; 1:223112506-223112506 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.591G>A; p.T197T; 1:223112441-223112441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526G>T; p.D176Y; 1:223112506-223112506 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2537A>G; p.D846G; 1:223110495-223110495 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1866C>A; p.F622L; 1:223111166-223111166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2381C>T; p.S794F; 1:223110651-223110651 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848C>G; p.A283G; 1:223112184-223112184 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.900delC; p.F301fs*3; 1:223112132-223112132 |
skin | malignant_melanoma | Deletion - Frameshift |
c.1403C>A; p.T468N; 1:223111629-223111629 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1375C>T; p.R459C; 1:223111657-223111657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.590C>T; p.T197M; 1:223112442-223112442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13C>T; p.L5L; 1:223113019-223113019 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.13C>T; p.L5L; 1:223113019-223113019 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.273C>T; p.F91F; 1:223112759-223112759 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.273C>T; p.F91F; 1:223112759-223112759 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.462A>C; p.K154N; 1:223112570-223112570 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.223C>A; p.L75M; 1:223112809-223112809 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1275G>A; p.A425A; 1:223111757-223111757 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1413G>T; p.E471D; 1:223111619-223111619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2311G>A; p.A771T; 1:223110721-223110721 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1337G>A; p.R446Q; 1:223111695-223111695 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.715A>G; p.T239A; 1:223112317-223112317 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.822C>G; p.I274M; 1:223112210-223112210 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1692T>A; p.N564K; 1:223111340-223111340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.968A>C; p.K323T; 1:223112064-223112064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1553C>T; p.P518L; 1:223111479-223111479 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1397A>G; p.D466G; 1:223111635-223111635 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2010T>C; p.C670C; 1:223111022-223111022 |
skin | malignant_melanoma | Substitution - coding silent |
c.2574C>T; p.S858S; 1:223110458-223110458 |
skin | malignant_melanoma | Substitution - coding silent |
c.1024A>C; p.N342H; 1:223112008-223112008 |
breast | carcinoma | Substitution - Missense |
c.2283C>A; p.H761Q; 1:223110749-223110749 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1508_1512delATCTT; p.H503fs*8; 1:223111520-223111524 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2491A>C; p.K831Q; 1:223110541-223110541 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.627T>G; p.Y209*; 1:223112405-223112405 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2548C>T; p.P850S; 1:223110484-223110484 |
skin | malignant_melanoma | Substitution - Missense |
c.276A>G; p.R92R; 1:223112756-223112756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1431G>T; p.Q477H; 1:223111601-223111601 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2505G>A; p.Q835Q; 1:223110527-223110527 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.756A>G; p.K252K; 1:223112276-223112276 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1107G>T; p.K369N; 1:223111925-223111925 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1466G>A; p.W489*; 1:223111566-223111566 |
skin; neck | malignant_melanoma | Substitution - Nonsense |
c.1479C>A; p.L493L; 1:223111553-223111553 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.301G>T; p.D101Y; 1:223112731-223112731 |
liver | carcinoma | Substitution - Missense |
c.349_350GG>AA; p.G117K; 1:223112682-223112683 |
skin | malignant_melanoma | Substitution - Missense |
c.301G>T; p.D101Y; 1:223112731-223112731 |
liver | carcinoma | Substitution - Missense |
c.2207C>G; p.P736R; 1:223110825-223110825 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088C>T; p.A363V; 1:223111944-223111944 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175G>T; p.R392L; 1:223111857-223111857 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1417C>T; p.P473S; 1:223111615-223111615 |
skin | malignant_melanoma | Substitution - Missense |
c.472C>T; p.R158C; 1:223112560-223112560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.472C>T; p.R158C; 1:223112560-223112560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1017A>G; p.Q339Q; 1:223112015-223112015 |
skin | malignant_melanoma | Substitution - coding silent |
c.2195G>T; p.R732I; 1:223110837-223110837 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.324C>A; p.Y108*; 1:223112708-223112708 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.282G>T; p.L94L; 1:223112750-223112750 |
breast | carcinoma | Substitution - coding silent |
c.1859C>T; p.S620F; 1:223111173-223111173 |
skin | malignant_melanoma | Substitution - Missense |
c.1633G>A; p.D545N; 1:223111399-223111399 |
skin | malignant_melanoma | Substitution - Missense |
c.925G>A; p.E309K; 1:223112107-223112107 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1413G>A; p.E471E; 1:223111619-223111619 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.541C>A; p.Q181K; 1:223112491-223112491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2140C>G; p.H714D; 1:223110892-223110892 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.934A>G; p.K312E; 1:223112098-223112098 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1687C>T; p.P563S; 1:223111345-223111345 |
skin | malignant_melanoma | Substitution - Missense |
c.205C>A; p.L69M; 1:223112827-223112827 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1336C>T; p.R446W; 1:223111696-223111696 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.663C>T; p.N221N; 1:223112369-223112369 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1159C>G; p.Q387E; 1:223111873-223111873 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.395C>G; p.S132C; 1:223112637-223112637 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.618T>C; p.N206N; 1:223112414-223112414 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - coding silent |
c.888A>C; p.S296S; 1:223112144-223112144 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1685_1686insT; p.P563fs*2; 1:223111346-223111347 |
breast | carcinoma | Insertion - Frameshift |
c.1776T>C; p.N592N; 1:223111256-223111256 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2549C>T; p.P850L; 1:223110483-223110483 |
skin | malignant_melanoma | Substitution - Missense |
c.1025A>C; p.N342T; 1:223112007-223112007 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.870G>A; p.V290V; 1:223112162-223112162 |
skin | malignant_melanoma | Substitution - coding silent |
c.384C>A; p.F128L; 1:223112648-223112648 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775A>G; p.N592S; 1:223111257-223111257 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775A>G; p.N592S; 1:223111257-223111257 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1775A>G; p.N592S; 1:223111257-223111257 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775A>G; p.N592S; 1:223111257-223111257 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775A>G; p.N592S; 1:223111257-223111257 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.341C>T; p.A114V; 1:223112691-223112691 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.29G>A; p.G10E; 1:223113003-223113003 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1844C>T; p.S615L; 1:223111188-223111188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2287C>T; p.L763F; 1:223110745-223110745 |
skin | malignant_melanoma | Substitution - Missense |
c.801C>T; p.A267A; 1:223112231-223112231 |
skin | malignant_melanoma | Substitution - coding silent |
c.2182T>C; p.C728R; 1:223110850-223110850 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.801C>T; p.A267A; 1:223112231-223112231 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.170A>G; p.Y57C; 1:223112862-223112862 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2233C>T; p.Q745*; 1:223110799-223110799 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2549C>A; p.P850Q; 1:223110483-223110483 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1855G>A; p.V619I; 1:223111177-223111177 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.830C>A; p.P277H; 1:223112202-223112202 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2418C>T; p.I806I; 1:223110614-223110614 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.108C>T; p.C36C; 1:223112924-223112924 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.1399C>G; p.Q467E; 1:223111633-223111633 |
large_intestine; caecum | adenoma | Substitution - Missense |
c.536C>T; p.S179F; 1:223112496-223112496 |
skin | malignant_melanoma | Substitution - Missense |
c.1990C>T; p.R664W; 1:223111042-223111042 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>T; p.P67S; 1:223112833-223112833 |
skin | malignant_melanoma | Substitution - Missense |
c.110A>G; p.N37S; 1:223112922-223112922 |
skin | malignant_melanoma | Substitution - Missense |
c.742A>G; p.N248D; 1:223112290-223112290 |
skin | malignant_melanoma | Substitution - Missense |
c.742A>G; p.N248D; 1:223112290-223112290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.139A>T; p.T47S; 1:223112893-223112893 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2193A>T; p.E731D; 1:223110839-223110839 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1061C>T; p.S354L; 1:223111971-223111971 |
skin | malignant_melanoma | Substitution - Missense |
c.1061C>T; p.S354L; 1:223111971-223111971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |