| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5167 |
Name | ENPP1 |
Synonymous | ectonucleotide pyrophosphatase/phosphodiesterase 1;ENPP1;ectonucleotide pyrophosphatase/phosphodiesterase 1 |
Definition | E-NPP 1|Ly-41 antigen|alkaline phosphodiesterase 1|ectonucleotide pyrophosphatase/phosphodiesterase family member 1|membrane component chromosome 6 surface marker 1|membrane component, chromosome 6, surface marker 1|phosphodiesterase I/nucleotide pyrophos |
Position | 6q22-q23 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2180C>T; p.T727I; 6:131884955-131884955 |
skin | malignant_melanoma | Substitution - Missense |
c.596T>C; p.V199A; 6:131858704-131858704 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.596T>C; p.V199A; 6:131858704-131858704 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1352A>G; p.K451R; 6:131872993-131872993 |
oesophagus | carcinoma | Substitution - Missense |
c.639C>T; p.T213T; 6:131858747-131858747 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1913C>T; p.P638L; 6:131880003-131880003 |
skin | malignant_melanoma | Substitution - Missense |
c.704C>T; p.S235F; 6:131860451-131860451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2337C>T; p.F779F; 6:131886610-131886610 |
skin | malignant_melanoma | Substitution - coding silent |
c.2508G>C; p.R836R; 6:131890397-131890397 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.146G>T; p.C49F; 6:131847837-131847837 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.92C>A; p.S31*; 6:131847783-131847783 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.2555G>T; p.R852I; 6:131890444-131890444 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.156A>T; p.E52D; 6:131847847-131847847 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2406A>C; p.L802F; 6:131886679-131886679 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447C>A; p.H483N; 6:131874305-131874305 |
breast | carcinoma | Substitution - Missense |
c.177C>T; p.R59R; 6:131850009-131850009 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2110G>T; p.A704S; 6:131883729-131883729 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2426G>A; p.R809K; 6:131886699-131886699 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2452-4C>A; p.?; 6:131890337-131890337 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1042G>A; p.V348I; 6:131868051-131868051 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1736C>T; p.S579L; 6:131877160-131877160 |
skin | malignant_melanoma | Substitution - Missense |
c.1868C>T; p.S623F; 6:131879958-131879958 |
skin | malignant_melanoma | Substitution - Missense |
c.893T>G; p.I298S; 6:131864529-131864529 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1821T>C; p.Y607Y; 6:131879911-131879911 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1334A>C; p.K445T; 6:131872975-131872975 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.791A>C; p.K264T; 6:131861626-131861626 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2578T>G; p.L860V; 6:131890467-131890467 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1543A>G; p.I515V; 6:131875839-131875839 |
breast | carcinoma | Substitution - Missense |
c.2129T>C; p.I710T; 6:131883748-131883748 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1724C>G; p.S575*; 6:131877148-131877148 |
skin; leg | malignant_melanoma | Substitution - Nonsense |
c.1884G>T; p.M628I; 6:131879974-131879974 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2604C>T; p.T868T; 6:131890493-131890493 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1738-1G>T; p.?; 6:131878541-131878541 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.312G>A; p.E104E; 6:131851179-131851179 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2152C>T; p.Q718*; 6:131883771-131883771 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2076A>G; p.Q692Q; 6:131883695-131883695 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1118-1G>A; p.?; 6:131869357-131869357 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1410-1G>A; p.?; 6:131874267-131874267 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2070A>C; p.P690P; 6:131882470-131882470 |
breast | carcinoma | Substitution - coding silent |
c.1907T>G; p.L636*; 6:131879997-131879997 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1178A>C; p.K393T; 6:131869418-131869418 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.702T>C; p.A234A; 6:131860449-131860449 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1932C>T; p.T644T; 6:131880022-131880022 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.607A>C; p.K203Q; 6:131858715-131858715 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.470C>T; p.T157M; 6:131854934-131854934 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2055C>T; p.Y685Y; 6:131882455-131882455 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1800T>C; p.I600I; 6:131879890-131879890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2055C>T; p.Y685Y; 6:131882455-131882455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.99T>C; p.C33C; 6:131847790-131847790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1424G>T; p.R475M; 6:131874282-131874282 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2189G>A; p.R730Q; 6:131884964-131884964 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.395G>T; p.C132F; 6:131851262-131851262 |
skin | malignant_melanoma | Substitution - Missense |
c.1738-1G>A; p.?; 6:131878541-131878541 |
skin | malignant_melanoma | Unknown |
c.998T>G; p.V333G; 6:131864928-131864928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1959G>A; p.T653T; 6:131882359-131882359 |
pancreas | carcinoma | Substitution - coding silent |
c.2074C>A; p.Q692K; 6:131882474-131882474 |
ovary | other; neoplasm | Substitution - Missense |
c.142A>T; p.S48C; 6:131847833-131847833 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.118G>T; p.G40C; 6:131847809-131847809 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.150C>T; p.A50A; 6:131847841-131847841 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1481C>T; p.A494V; 6:131875777-131875777 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1933G>A; p.V645M; 6:131880023-131880023 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2377C>T; p.P793S; 6:131886650-131886650 |
breast | carcinoma | Substitution - Missense |
c.1933G>A; p.V645M; 6:131880023-131880023 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1958C>T; p.T653M; 6:131882358-131882358 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1077C>A; p.N359K; 6:131868086-131868086 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1517G>A; p.G506D; 6:131875813-131875813 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2509A>G; p.I837V; 6:131890398-131890398 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.707T>C; p.F236S; 6:131860454-131860454 |
ovary | other; neoplasm | Substitution - Missense |
c.1926C>T; p.S642S; 6:131880016-131880016 |
skin | malignant_melanoma | Substitution - coding silent |
c.102G>T; p.V34V; 6:131847793-131847793 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1600G>A; p.G534R; 6:131877024-131877024 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2049G>T; p.V683V; 6:131882449-131882449 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1546G>A; p.E516K; 6:131875842-131875842 |
skin | malignant_melanoma | Substitution - Missense |
c.2534G>A; p.G845E; 6:131890423-131890423 |
NS | malignant_melanoma | Substitution - Missense |
c.2534G>A; p.G845E; 6:131890423-131890423 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.2387G>A; p.C796Y; 6:131886660-131886660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2534G>A; p.G845E; 6:131890423-131890423 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.184G>T; p.E62*; 6:131850016-131850016 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2195A>G; p.Y732C; 6:131884970-131884970 |
breast | carcinoma | Substitution - Missense |
c.458C>T; p.A153V; 6:131852232-131852232 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>A; p.G279R; 6:131861670-131861670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.189A>T; p.R63S; 6:131850021-131850021 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.948C>G; p.Y316*; 6:131864878-131864878 |
kidney | other; neoplasm | Substitution - Nonsense |
c.1943A>G; p.N648S; 6:131880033-131880033 |
liver | carcinoma | Substitution - Missense |
c.1943A>G; p.N648S; 6:131880033-131880033 |
liver | carcinoma | Substitution - Missense |
c.1943A>G; p.N648S; 6:131880033-131880033 |
liver | carcinoma | Substitution - Missense |
c.168C>A; p.C56*; 6:131850000-131850000 |
thyroid | carcinoma | Substitution - Nonsense |
c.1459A>G; p.N487D; 6:131874317-131874317 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2315A>C; p.E772A; 6:131886588-131886588 |
breast | carcinoma | Substitution - Missense |
c.1019C>T; p.A340V; 6:131868028-131868028 |
skin | malignant_melanoma | Substitution - Missense |
c.1567G>A; p.D523N; 6:131875863-131875863 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.2455G>T; p.G819W; 6:131890344-131890344 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.401-1G>A; p.?; 6:131852174-131852174 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Unknown |
c.935+1G>T; p.?; 6:131864572-131864572 |
breast | carcinoma | Unknown |
c.233G>A; p.G78E; 6:131850065-131850065 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2561A>G; p.E854G; 6:131890450-131890450 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2561A>G; p.E854G; 6:131890450-131890450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2561A>G; p.E854G; 6:131890450-131890450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2561A>G; p.E854G; 6:131890450-131890450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.233G>A; p.G78E; 6:131850065-131850065 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1211G>T; p.R404L; 6:131869451-131869451 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1908A>G; p.L636L; 6:131879998-131879998 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2109A>C; p.E703D; 6:131883728-131883728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.538C>T; p.L180F; 6:131855002-131855002 |
skin | malignant_melanoma | Substitution - Missense |
c.1915C>T; p.L639F; 6:131880005-131880005 |
NS | malignant_melanoma | Substitution - Missense |
c.1023G>C; p.L341F; 6:131868032-131868032 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.223G>A; p.V75I; 6:131850055-131850055 |
thyroid | carcinoma | Substitution - Missense |
c.1306A>G; p.K436E; 6:131872947-131872947 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2222T>A; p.V741D; 6:131884997-131884997 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2519T>G; p.V840G; 6:131890408-131890408 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.361A>C; p.K121Q; 6:131851228-131851228 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.639+1G>A; p.?; 6:131858748-131858748 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.471G>A; p.T157T; 6:131854935-131854935 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1704C>A; p.P568P; 6:131877128-131877128 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2348T>C; p.L783P; 6:131886621-131886621 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1271G>A; p.R424Q; 6:131872091-131872091 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1271G>A; p.R424Q; 6:131872091-131872091 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1271G>A; p.R424Q; 6:131872091-131872091 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1271G>A; p.R424Q; 6:131872091-131872091 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2503G>A; p.A835T; 6:131890392-131890392 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1271G>A; p.R424Q; 6:131872091-131872091 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1976G>C; p.C659S; 6:131882376-131882376 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1210C>T; p.R404*; 6:131869450-131869450 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1929T>C; p.Y643Y; 6:131880019-131880019 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1210C>T; p.R404*; 6:131869450-131869450 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1210C>T; p.R404*; 6:131869450-131869450 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1494C>T; p.G498G; 6:131875790-131875790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.165T>C; p.S55S; 6:131849997-131849997 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.165T>C; p.S55S; 6:131849997-131849997 |
skin | malignant_melanoma | Substitution - coding silent |
c.2021G>T; p.C674F; 6:131882421-131882421 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715T>C; p.L572P; 6:131877139-131877139 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2223C>T; p.V741V; 6:131884998-131884998 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.175C>T; p.R59C; 6:131850007-131850007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2152C>G; p.Q718E; 6:131883771-131883771 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2223C>T; p.V741V; 6:131884998-131884998 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.175C>T; p.R59C; 6:131850007-131850007 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.811C>G; p.P271A; 6:131861646-131861646 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.292A>G; p.N98D; 6:131851159-131851159 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.899C>A; p.A300D; 6:131864535-131864535 |
thyroid | other; neoplasm | Substitution - Missense |
c.890G>A; p.R297K; 6:131864526-131864526 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1874A>C; p.H625P; 6:131879964-131879964 |
breast | carcinoma | Substitution - Missense |
c.172G>A; p.G58S; 6:131850004-131850004 |
skin | malignant_melanoma | Substitution - Missense |
c.1259A>T; p.E420V; 6:131872079-131872079 |
oesophagus | carcinoma | Substitution - Missense |
c.135G>A; p.L45L; 6:131847826-131847826 |
skin | malignant_melanoma | Substitution - coding silent |
c.622C>T; p.H208Y; 6:131858730-131858730 |
skin | malignant_melanoma | Substitution - Missense |
c.1051C>G; p.L351V; 6:131868060-131868060 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2057G>A; p.G686E; 6:131882457-131882457 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2607T>A; p.F869L; 6:131890496-131890496 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2429C>T; p.T810I; 6:131886702-131886702 |
skin | malignant_melanoma | Substitution - Missense |
c.1616T>C; p.L539P; 6:131877040-131877040 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.405G>A; p.E135E; 6:131852179-131852179 |
skin | malignant_melanoma | Substitution - coding silent |
c.1966T>C; p.F656L; 6:131882366-131882366 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2445C>T; p.S815S; 6:131886718-131886718 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.857A>C; p.K286T; 6:131861692-131861692 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2305C>T; p.R769C; 6:131886578-131886578 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.600T>G; p.Y200*; 6:131858708-131858708 |
liver | carcinoma | Substitution - Nonsense |
c.387T>C; p.S129S; 6:131851254-131851254 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1953C>T; p.F651F; 6:131882353-131882353 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2192A>C; p.K731T; 6:131884967-131884967 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.640G>A; p.G214R; 6:131860387-131860387 |
skin | malignant_melanoma | Substitution - Missense |
c.1232C>A; p.P411Q; 6:131869472-131869472 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.640_641GG>AA; p.G214K; 6:131860387-131860388 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.262T>A; p.C88S; 6:131850094-131850094 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.737C>T; p.P246L; 6:131860484-131860484 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.268G>T; p.E90*; 6:131850100-131850100 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1646C>T; p.T549M; 6:131877070-131877070 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1790-1G>C; p.?; 6:131879879-131879879 |
breast | carcinoma | Unknown |
c.2337C>A; p.F779L; 6:131886610-131886610 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.176G>T; p.R59L; 6:131850008-131850008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2217C>A; p.V739V; 6:131884992-131884992 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1753G>T; p.D585Y; 6:131878557-131878557 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1282-8A>T; p.?; 6:131872915-131872915 |
liver | carcinoma | Unknown |
c.1282-8A>T; p.?; 6:131872915-131872915 |
liver | carcinoma | Unknown |
c.1481C>A; p.A494D; 6:131875777-131875777 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1300C>T; p.H434Y; 6:131872941-131872941 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2105C>A; p.S702Y; 6:131883724-131883724 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1814T>A; p.L605*; 6:131879904-131879904 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2162G>T; p.W721L; 6:131884937-131884937 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1675C>A; p.L559M; 6:131877099-131877099 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2564C>T; p.P855L; 6:131890453-131890453 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2316A>C; p.E772D; 6:131886589-131886589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504G>T; p.G502*; 6:131875800-131875800 |
large_intestine; colon | adenoma | Substitution - Nonsense |
c.2508G>A; p.R836R; 6:131890397-131890397 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2560G>C; p.E854Q; 6:131890449-131890449 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2389G>A; p.E797K; 6:131886662-131886662 |
skin | malignant_melanoma | Substitution - Missense |
c.773C>T; p.A258V; 6:131861608-131861608 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2084A>C; p.K695T; 6:131883703-131883703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1479A>G; p.Q493Q; 6:131874337-131874337 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1588G>T; p.A530S; 6:131877012-131877012 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.338C>A; p.A113D; 6:131851205-131851205 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1733C>T; p.P578L; 6:131877157-131877157 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1717G>C; p.G573R; 6:131877141-131877141 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2304C>T; p.I768I; 6:131886577-131886577 |
skin | malignant_melanoma | Substitution - coding silent |
c.235A>C; p.N79H; 6:131850067-131850067 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |