| Gene ID | 5774 |
| Symbol | PTPN3 |
| Synonymous | PTP-H1|PTPH1 |
| Full name | protein tyrosine phosphatase, non-receptor type 3 |
| Gene description | cytoskeletal-associated protein tyrosine phosphatase|protein-tyrosine phosphatase H1|tyrosine-protein phosphatase non-receptor type 3 |
| Cytoband | 9q31 |
| Gene type | protein-coding |
| Synonymous | MIM:176877; HGNC:HGNC:9655; Ensembl:ENSG00000070159; HPRD:06767; Vega:OTTHUMG00000020475 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1064G>A; p.R355Q; 9:109422790-109422790 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1064G>A; p.R355Q; 9:109422790-109422790 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2673C>G; p.Y891*; 9:109379625-109379625 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.626A>C; p.N209T; 9:109436932-109436932 |
pancreas | carcinoma | Substitution - Missense |
c.2080G>C; p.D694H; 9:109391164-109391164 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1115C>T; p.S372F; 9:109422739-109422739 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.614C>A; p.S205Y; 9:109436944-109436944 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2356C>T; p.R786*; 9:109383449-109383449 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2356C>T; p.R786*; 9:109383449-109383449 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1063C>T; p.R355W; 9:109422791-109422791 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1063C>T; p.R355W; 9:109422791-109422791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2433C>A; p.D811E; 9:109382397-109382397 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1275C>T; p.S425S; 9:109420462-109420462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1762C>T; p.R588W; 9:109406492-109406492 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1970_1971insA; p.P658fs*20; 9:109391544-109391545 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1750G>C; p.E584Q; 9:109406504-109406504 |
breast | carcinoma | Substitution - Missense |
c.2501A>T; p.D834V; 9:109382329-109382329 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.858_859insT; p.N287fs*1; 9:109427092-109427093 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.658G>C; p.E220Q; 9:109436900-109436900 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1849G>T; p.E617*; 9:109404552-109404552 |
skin | malignant_melanoma | Substitution - Nonsense |
c.268G>C; p.A90P; 9:109457194-109457194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2250G>T; p.G750G; 9:109389236-109389236 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.77G>A; p.R26Q; 9:109463358-109463358 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.77G>A; p.R26Q; 9:109463358-109463358 |
skin | malignant_melanoma | Substitution - Missense |
c.1043T>G; p.M348R; 9:109422811-109422811 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1212C>T; p.T404T; 9:109420525-109420525 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2103G>A; p.V701V; 9:109391141-109391141 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.643G>A; p.D215N; 9:109436915-109436915 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.302G>A; p.C101Y; 9:109454562-109454562 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.643G>A; p.D215N; 9:109436915-109436915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2690C>T; p.A897V; 9:109379608-109379608 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515C>A; p.S172Y; 9:109438186-109438186 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1983C>T; p.A661A; 9:109391532-109391532 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2695C>A; p.L899I; 9:109379603-109379603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.449C>T; p.A150V; 9:109445257-109445257 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.316C>T; p.R106*; 9:109454548-109454548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2422G>A; p.A808T; 9:109382408-109382408 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2246G>A; p.R749Q; 9:109389240-109389240 |
skin | malignant_melanoma | Substitution - Missense |
c.1858T>C; p.F620L; 9:109404543-109404543 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2246G>A; p.R749Q; 9:109389240-109389240 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2246G>A; p.R749Q; 9:109389240-109389240 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.599A>G; p.Q200R; 9:109436959-109436959 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2547C>T; p.T849T; 9:109381769-109381769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.588-1G>T; p.?; 9:109436971-109436971 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Unknown |
c.1256C>A; p.S419Y; 9:109420481-109420481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2387G>T; p.G796V; 9:109382443-109382443 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1090G>T; p.E364*; 9:109422764-109422764 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.632C>T; p.A211V; 9:109436926-109436926 |
prostate | adenoma | Substitution - Missense |
c.632C>T; p.A211V; 9:109436926-109436926 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>T; p.A211V; 9:109436926-109436926 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2705A>G; p.Y902C; 9:109379593-109379593 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>T; p.L117L; 9:109454515-109454515 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1120C>T; p.P374S; 9:109422734-109422734 |
skin | malignant_melanoma | Substitution - Missense |
c.1746C>T; p.S582S; 9:109406508-109406508 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.406G>A; p.E136K; 9:109448818-109448818 |
breast | carcinoma | Substitution - Missense |
c.1713G>A; p.T571T; 9:109406541-109406541 |
prostate | carcinoma | Substitution - coding silent |
c.2383-2A>C; p.?; 9:109382449-109382449 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1275C>A; p.S425R; 9:109420462-109420462 |
prostate | carcinoma | Substitution - Missense |
c.925C>T; p.Q309*; 9:109427026-109427026 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1414G>A; p.G472S; 9:109410315-109410315 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1483C>T; p.Q495*; 9:109410246-109410246 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.694C>T; p.L232L; 9:109433143-109433143 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2385C>T; p.T795T; 9:109382445-109382445 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1288T>C; p.S430P; 9:109420449-109420449 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.181delC; p.H61fs*4; 9:109457357-109457357 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.2436C>T; p.H812H; 9:109382394-109382394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1258C>A; p.L420M; 9:109420479-109420479 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.899C>T; p.S300F; 9:109427052-109427052 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2632C>T; p.R878*; 9:109381684-109381684 |
liver | carcinoma | Substitution - Nonsense |
c.2632C>T; p.R878*; 9:109381684-109381684 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.35T>A; p.I12N; 9:109463400-109463400 |
skin | malignant_melanoma | Substitution - Missense |
c.2632C>T; p.R878*; 9:109381684-109381684 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.8C>T; p.S3F; 9:109463427-109463427 |
skin | malignant_melanoma | Substitution - Missense |
c.1845C>T; p.F615F; 9:109404556-109404556 |
skin | malignant_melanoma | Substitution - coding silent |
c.904G>T; p.V302F; 9:109427047-109427047 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1464C>T; p.G488G; 9:109410265-109410265 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2146G>A; p.A716T; 9:109389340-109389340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.461T>A; p.V154E; 9:109445245-109445245 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1871C>T; p.P624L; 9:109404530-109404530 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.229G>A; p.D77N; 9:109457309-109457309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1637C>T; p.A546V; 9:109406617-109406617 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1691G>A; p.G564D; 9:109406563-109406563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2282C>T; p.P761L; 9:109383523-109383523 |
skin | malignant_melanoma | Substitution - Missense |
c.54G>T; p.S18S; 9:109463381-109463381 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1772C>T; p.A591V; 9:109406482-109406482 |
skin | malignant_melanoma | Substitution - Missense |
c.1595delA; p.K532fs*9; 9:109408361-109408361 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1687A>T; p.N563Y; 9:109406567-109406567 |
liver | carcinoma | Substitution - Missense |
c.1595delA; p.K532fs*9; 9:109408361-109408361 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1929C>T; p.S643S; 9:109404472-109404472 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1090G>C; p.E364Q; 9:109422764-109422764 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1929C>T; p.S643S; 9:109404472-109404472 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2435A>T; p.H812L; 9:109382395-109382395 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1060A>G; p.M354V; 9:109422794-109422794 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.1189G>C; p.D397H; 9:109420548-109420548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111C>A; p.R371S; 9:109422743-109422743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2252G>A; p.R751Q; 9:109389234-109389234 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>T; p.E220V; 9:109436899-109436899 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2403G>A; p.V801V; 9:109382427-109382427 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2675A>C; p.K892T; 9:109379623-109379623 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.45A>G; p.I15M; 9:109463390-109463390 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1733T>G; p.F578C; 9:109406521-109406521 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2421C>T; p.V807V; 9:109382409-109382409 |
skin | malignant_melanoma | Substitution - coding silent |
c.564C>T; p.V188V; 9:109438137-109438137 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2548G>A; p.G850S; 9:109381768-109381768 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.450G>A; p.A150A; 9:109445256-109445256 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.47G>A; p.R16H; 9:109463388-109463388 |
pancreas | carcinoma | Substitution - Missense |
c.47G>A; p.R16H; 9:109463388-109463388 |
pancreas | carcinoma | Substitution - Missense |
c.47G>A; p.R16H; 9:109463388-109463388 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.114C>T; p.G38G; 9:109463321-109463321 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.47G>A; p.R16H; 9:109463388-109463388 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.47G>A; p.R16H; 9:109463388-109463388 |
pancreas | carcinoma | Substitution - Missense |
c.2684G>T; p.C895F; 9:109379614-109379614 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1155G>A; p.R385R; 9:109420582-109420582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2547C>A; p.T849T; 9:109381769-109381769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2592G>A; p.R864R; 9:109381724-109381724 |
skin; leg | malignant_melanoma | Substitution - coding silent |
c.2592G>A; p.R864R; 9:109381724-109381724 |
skin; leg | malignant_melanoma | Substitution - coding silent |
c.2506G>A; p.E836K; 9:109382324-109382324 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1031T>G; p.V344G; 9:109422823-109422823 |
breast | carcinoma | Substitution - Missense |
c.1460G>A; p.G487E; 9:109410269-109410269 |
skin | malignant_melanoma | Substitution - Missense |
c.475G>T; p.G159*; 9:109438226-109438226 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2435A>G; p.H812R; 9:109382395-109382395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2172C>G; p.T724T; 9:109389314-109389314 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2172C>G; p.T724T; 9:109389314-109389314 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2497G>A; p.V833M; 9:109382333-109382333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1249A>C; p.K417Q; 9:109420488-109420488 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.577G>C; p.E193Q; 9:109438124-109438124 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1032G>A; p.V344V; 9:109422822-109422822 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1306C>T; p.H436Y; 9:109420431-109420431 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.2227T>C; p.L743L; 9:109389259-109389259 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1997A>G; p.K666R; 9:109391518-109391518 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2389G>A; p.E797K; 9:109382441-109382441 |
skin | malignant_melanoma | Substitution - Missense |
c.635G>A; p.R212Q; 9:109436923-109436923 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1112G>A; p.R371H; 9:109422742-109422742 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1414G>T; p.G472C; 9:109410315-109410315 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.44T>C; p.I15T; 9:109463391-109463391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068A>T; p.R356S; 9:109422786-109422786 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2023C>T; p.R675*; 9:109391492-109391492 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2691G>A; p.A897A; 9:109379607-109379607 |
oesophagus | carcinoma | Substitution - coding silent |
c.2305G>A; p.G769S; 9:109383500-109383500 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1931G>T; p.G644V; 9:109404470-109404470 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2440G>C; p.V814L; 9:109382390-109382390 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.247-2A>G; p.?; 9:109457217-109457217 |
liver | carcinoma | Unknown |
c.228C>T; p.D76D; 9:109457310-109457310 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2560A>G; p.T854A; 9:109381756-109381756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2284C>T; p.P762S; 9:109383521-109383521 |
skin | malignant_melanoma | Substitution - Missense |
c.2737A>T; p.S913C; 9:109379561-109379561 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1204G>T; p.E402*; 9:109420533-109420533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2107-1G>A; p.?; 9:109389380-109389380 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2052C>T; p.T684T; 9:109391192-109391192 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1153C>T; p.R385W; 9:109420584-109420584 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2289C>T; p.D763D; 9:109383516-109383516 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1669G>A; p.D557N; 9:109406585-109406585 |
skin | malignant_melanoma | Substitution - Missense |
c.2641C>T; p.R881C; 9:109381675-109381675 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2356C>G; p.R786G; 9:109383449-109383449 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.509A>G; p.Y170C; 9:109438192-109438192 |
liver | carcinoma | Substitution - Missense |
c.509A>G; p.Y170C; 9:109438192-109438192 |
liver | carcinoma | Substitution - Missense |
c.674_675+3delGGGTA; p.?; 9:109436880-109436884 |
breast | carcinoma | Unknown |
c.1732T>C; p.F578L; 9:109406522-109406522 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1415G>A; p.G472D; 9:109410314-109410314 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.875G>A; p.R292Q; 9:109427076-109427076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.463C>T; p.Q155*; 9:109445243-109445243 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.285A>G; p.L95L; 9:109457177-109457177 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1119T>C; p.P373P; 9:109422735-109422735 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.123G>A; p.Q41Q; 9:109463312-109463312 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.499C>T; p.H167Y; 9:109438202-109438202 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1436A>G; p.D479G; 9:109410293-109410293 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1467C>T; p.S489S; 9:109410262-109410262 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1138C>T; p.R380*; 9:109420599-109420599 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1138C>T; p.R380*; 9:109420599-109420599 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2339C>T; p.T780I; 9:109383466-109383466 |
skin | malignant_melanoma | Substitution - Missense |
c.16C>T; p.R6C; 9:109463419-109463419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2106+1G>A; p.?; 9:109391137-109391137 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2106+1G>A; p.?; 9:109391137-109391137 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1822G>A; p.E608K; 9:109404579-109404579 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2286delC; p.D763fs*3; 9:109383519-109383519 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1652C>G; p.P551R; 9:109406602-109406602 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.20C>T; p.A7V; 9:109463415-109463415 |
pancreas | carcinoma | Substitution - Missense |
c.1568T>G; p.F523C; 9:109410009-109410009 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1859delT; p.F620fs*18; 9:109404542-109404542 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.2320T>A; p.C774S; 9:109383485-109383485 |
skin | malignant_melanoma | Substitution - Missense |
c.2302G>A; p.G768S; 9:109383503-109383503 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1139G>T; p.R380L; 9:109420598-109420598 |
liver | carcinoma | Substitution - Missense |
c.1139G>T; p.R380L; 9:109420598-109420598 |
liver | carcinoma | Substitution - Missense |
c.1889T>A; p.L630*; 9:109404512-109404512 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1731G>T; p.M577I; 9:109406523-109406523 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1209G>T; p.M403I; 9:109420528-109420528 |
breast | carcinoma | Substitution - Missense |
c.1004C>T; p.S335L; 9:109422850-109422850 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1361C>T; p.S454L; 9:109410368-109410368 |
skin | malignant_melanoma | Substitution - Missense |
c.1935G>A; p.T645T; 9:109404466-109404466 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.2663C>T; p.S888L; 9:109381653-109381653 |
skin | malignant_melanoma | Substitution - Missense |
c.2637C>T; p.D879D; 9:109381679-109381679 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1379C>T; p.P460L; 9:109410350-109410350 |
skin | malignant_melanoma | Substitution - Missense |
c.2434C>A; p.H812N; 9:109382396-109382396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1733T>A; p.F578Y; 9:109406521-109406521 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111C>T; p.R371C; 9:109422743-109422743 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1934C>T; p.T645M; 9:109404467-109404467 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.208T>G; p.F70V; 9:109457330-109457330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1930G>A; p.G644R; 9:109404471-109404471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.451T>A; p.S151T; 9:109445255-109445255 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.351G>A; p.L117L; 9:109454513-109454513 |
pancreas | carcinoma | Substitution - coding silent |
c.2445C>T; p.P815P; 9:109382385-109382385 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2616T>A; p.D872E; 9:109381700-109381700 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2083T>G; p.Y695D; 9:109391161-109391161 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.812A>C; p.H271P; 9:109428637-109428637 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1928G>A; p.S643N; 9:109404473-109404473 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1136G>T; p.W379L; 9:109422718-109422718 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1400C>T; p.S467F; 9:109410329-109410329 |
skin | malignant_melanoma | Substitution - Missense |
c.588-4G>A; p.?; 9:109436974-109436974 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.704G>A; p.G235E; 9:109433133-109433133 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1555G>A; p.G519R; 9:109410022-109410022 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.633G>A; p.A211A; 9:109436925-109436925 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1836C>T; p.N612N; 9:109404565-109404565 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2021A>G; p.N674S; 9:109391494-109391494 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2618T>A; p.I873N; 9:109381698-109381698 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2698C>T; p.R900C; 9:109379600-109379600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2231C>T; p.T744M; 9:109389255-109389255 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2231C>T; p.T744M; 9:109389255-109389255 |
breast | carcinoma | Substitution - Missense |
c.916A>G; p.T306A; 9:109427035-109427035 |
skin | malignant_melanoma | Substitution - Missense |
c.514_515insT; p.S172fs*3; 9:109438186-109438187 |
liver | carcinoma | Insertion - Frameshift |