| Gene ID | 489 |
| Symbol | ATP2A3 |
| Synonymous | SERCA3 |
| Full name | ATPase, Ca++ transporting, ubiquitous |
| Gene description | ATPase, Ca(2+)-transporting, ubiquitous|SR Ca(2+)-ATPase 3|adenosine triphosphatase, calcium|calcium pump 3|calcium-translocating P-type ATPase|sarco/endoplasmic reticulum Ca2+ -ATPase|sarcoplasmic/endoplasmic reticulum calcium ATPase 3 |
| Cytoband | 17p13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:601929; HGNC:HGNC:813; Ensembl:ENSG00000074370; HPRD:03568; Vega:OTTHUMG00000177674 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1104G>T; p.V368V; 17:3945140-3945140 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.137G>C; p.G46A; 17:3953429-3953429 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2469C>A; p.S823R; 17:3936322-3936322 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2871C>T; p.F957F; 17:3928772-3928772 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1852G>A; p.G618S; 17:3941219-3941219 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.990C>T; p.N330N; 17:3947496-3947496 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740C>T; p.T247M; 17:3947746-3947746 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1831A>G; p.I611V; 17:3941240-3941240 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1242G>A; p.A414A; 17:3944749-3944749 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2090T>C; p.I697T; 17:3940981-3940981 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.183G>C; p.L61L; 17:3953383-3953383 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1776C>T; p.T592T; 17:3941295-3941295 |
skin | malignant_melanoma | Substitution - coding silent |
c.125C>T; p.P42L; 17:3953704-3953704 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2335G>T; p.A779S; 17:3936456-3936456 |
liver | carcinoma | Substitution - Missense |
c.2335G>T; p.A779S; 17:3936456-3936456 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3047C>T; p.S1016F; 17:3928261-3928261 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3047C>T; p.S1016F; 17:3928261-3928261 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2533G>A; p.G845S; 17:3935269-3935269 |
liver | carcinoma | Substitution - Missense |
c.337G>A; p.E113K; 17:3951377-3951377 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.337G>A; p.E113K; 17:3951377-3951377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2552C>G; p.A851G; 17:3935250-3935250 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2190G>A; p.A730A; 17:3937547-3937547 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2533G>A; p.G845S; 17:3935269-3935269 |
liver | carcinoma | Substitution - Missense |
c.1649G>A; p.R550Q; 17:3941551-3941551 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1949G>T; p.G650V; 17:3941122-3941122 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1188G>A; p.R396R; 17:3944803-3944803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2110G>A; p.G704R; 17:3937627-3937627 |
skin | malignant_melanoma | Substitution - Missense |
c.1751T>G; p.F584C; 17:3941449-3941449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2011C>T; p.R671C; 17:3941060-3941060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015G>A; p.V339M; 17:3947471-3947471 |
skin | malignant_melanoma | Substitution - Missense |
c.1023C>A; p.T341T; 17:3947463-3947463 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.137-1G>A; p.?; 17:3953430-3953430 |
skin | malignant_melanoma | Unknown |
c.1796_1797insT; p.M599fs*8; 17:3941274-3941275 |
liver | carcinoma | Insertion - Frameshift |
c.1023C>A; p.T341T; 17:3947463-3947463 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2709G>A; p.V903V; 17:3930336-3930336 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1941C>T; p.D647D; 17:3941130-3941130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1311G>A; p.V437V; 17:3943499-3943499 |
breast | carcinoma | Substitution - coding silent |
c.1340G>T; p.C447F; 17:3943470-3943470 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1011G>A; p.P337P; 17:3947475-3947475 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.416G>T; p.R139M; 17:3951298-3951298 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1391G>A; p.R464Q; 17:3943419-3943419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1289C>T; p.A430V; 17:3943521-3943521 |
skin | malignant_melanoma | Substitution - Missense |
c.1065G>A; p.T355T; 17:3947421-3947421 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.804C>T; p.C268C; 17:3947682-3947682 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.598G>A; p.V200M; 17:3950543-3950543 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1758G>C; p.Q586H; 17:3941442-3941442 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3051G>A; p.W1017*; 17:3928257-3928257 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2400C>T; p.D800D; 17:3936391-3936391 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2311G>A; p.E771K; 17:3937426-3937426 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.328C>T; p.R110C; 17:3951386-3951386 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.328C>T; p.R110C; 17:3951386-3951386 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.328C>T; p.R110C; 17:3951386-3951386 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - Missense |
c.1707G>A; p.A569A; 17:3941493-3941493 |
prostate | carcinoma | Substitution - coding silent |
c.2658C>T; p.I886I; 17:3930387-3930387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2440C>T; p.L814L; 17:3936351-3936351 |
skin | malignant_melanoma | Substitution - coding silent |
c.400C>T; p.R134C; 17:3951314-3951314 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302T>C; p.Y434Y; 17:3943508-3943508 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1471C>A; p.R491R; 17:3942680-3942680 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2154C>T; p.I718I; 17:3937583-3937583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2188G>T; p.A730S; 17:3937549-3937549 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2442G>A; p.L814L; 17:3936349-3936349 |
skin | malignant_melanoma | Substitution - coding silent |
c.2705C>T; p.S902F; 17:3930340-3930340 |
skin | malignant_melanoma | Substitution - Missense |
c.2442G>A; p.L814L; 17:3936349-3936349 |
skin | malignant_melanoma | Substitution - coding silent |
c.983G>A; p.R328H; 17:3947503-3947503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2551G>A; p.A851T; 17:3935251-3935251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.533_534CC>TT; p.S178F; 17:3950703-3950704 |
skin | malignant_melanoma | Substitution - Missense |
c.2326T>G; p.F776V; 17:3936465-3936465 |
skin | malignant_melanoma | Substitution - Missense |
c.1419+10G>A; p.?; 17:3943381-3943381 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.2209G>C; p.D737H; 17:3937528-3937528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>T; p.G277C; 17:3947657-3947657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.215C>T; p.S72F; 17:3953351-3953351 |
skin | malignant_melanoma | Substitution - Missense |
c.1608C>T; p.P536P; 17:3941592-3941592 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2061C>T; p.I687I; 17:3941010-3941010 |
skin | malignant_melanoma | Substitution - coding silent |
c.519G>A; p.L173L; 17:3950718-3950718 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1438C>T; p.R480W; 17:3942713-3942713 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1438C>T; p.R480W; 17:3942713-3942713 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1478C>T; p.S493F; 17:3942673-3942673 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2334G>T; p.T778T; 17:3936457-3936457 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909G>A; p.A303A; 17:3947577-3947577 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1857_1858CC>TT; p.R620C; 17:3941213-3941214 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>A; p.P312P; 17:3947550-3947550 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.837C>T; p.F279F; 17:3947649-3947649 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2853G>A; p.P951P; 17:3929337-3929337 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2632G>A; p.E878K; 17:3930413-3930413 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.352G>T; p.A118S; 17:3951362-3951362 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3139+1G>C; p.?; 17:3927980-3927980 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.686A>G; p.H229R; 17:3947800-3947800 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.3024G>C; p.W1008C; 17:3928284-3928284 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2414C>T; p.T805M; 17:3936377-3936377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3100G>A; p.V1034I; 17:3928020-3928020 |
oesophagus | carcinoma | Substitution - Missense |
c.1366G>A; p.D456N; 17:3943444-3943444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.647C>T; p.S216L; 17:3947839-3947839 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1712_1713insC; p.R572fs*35; 17:3941487-3941488 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1707G>C; p.A569A; 17:3941493-3941493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1707G>C; p.A569A; 17:3941493-3941493 |
thyroid | other; neoplasm | Substitution - coding silent |
c.520C>A; p.R174R; 17:3950717-3950717 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.982C>T; p.R328C; 17:3947504-3947504 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.164A>G; p.E55G; 17:3953402-3953402 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1944G>A; p.V648V; 17:3941127-3941127 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - coding silent |
c.658G>A; p.V220M; 17:3947828-3947828 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1571G>A; p.R524H; 17:3941629-3941629 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2451G>A; p.M817I; 17:3936340-3936340 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.534C>T; p.S178S; 17:3950703-3950703 |
skin | malignant_melanoma | Substitution - coding silent |
c.396G>A; p.S132S; 17:3951318-3951318 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2750C>T; p.S917L; 17:3929440-3929440 |
skin | malignant_melanoma | Substitution - Missense |
c.650G>T; p.G217V; 17:3947836-3947836 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2118C>T; p.N706N; 17:3937619-3937619 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.593G>A; p.R198K; 17:3950548-3950548 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2032C>T; p.R678C; 17:3941039-3941039 |
ovary | other; neoplasm | Substitution - Missense |
c.2433G>T; p.P811P; 17:3936358-3936358 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2619C>T; p.F873F; 17:3930426-3930426 |
skin | malignant_melanoma | Substitution - coding silent |
c.15T>C; p.H5H; 17:3964277-3964277 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1500C>T; p.P500P; 17:3942651-3942651 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.258C>T; p.T86T; 17:3951647-3951647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1365C>T; p.F455F; 17:3943445-3943445 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.783C>A; p.S261S; 17:3947703-3947703 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.691G>A; p.E231K; 17:3947795-3947795 |
skin | malignant_melanoma | Substitution - Missense |
c.2643G>A; p.P881P; 17:3930402-3930402 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2643G>A; p.P881P; 17:3930402-3930402 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2643G>A; p.P881P; 17:3930402-3930402 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.146T>C; p.L49P; 17:3953420-3953420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.675C>A; p.A225A; 17:3947811-3947811 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1272T>G; p.A424A; 17:3944719-3944719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1023C>T; p.T341T; 17:3947463-3947463 |
skin | malignant_melanoma | Substitution - coding silent |
c.653A>T; p.K218I; 17:3947833-3947833 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2695A>G; p.M899V; 17:3930350-3930350 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1874C>T; p.T625M; 17:3941197-3941197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017G>T; p.V339V; 17:3947469-3947469 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1622C>T; p.S541F; 17:3941578-3941578 |
skin | malignant_melanoma | Substitution - Missense |
c.1948G>T; p.G650C; 17:3941123-3941123 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2172G>A; p.T724T; 17:3937565-3937565 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2595C>G; p.I865M; 17:3935207-3935207 |
breast | carcinoma | Substitution - Missense |
c.1518T>C; p.T506T; 17:3942633-3942633 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1518T>C; p.T506T; 17:3942633-3942633 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2352C>T; p.P784P; 17:3936439-3936439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1737C>T; p.D579D; 17:3941463-3941463 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1983C>T; p.L661L; 17:3941088-3941088 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.184G>A; p.V62M; 17:3953382-3953382 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1983C>T; p.L661L; 17:3941088-3941088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.448A>G; p.I150V; 17:3951266-3951266 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.448A>G; p.I150V; 17:3951266-3951266 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2033G>A; p.R678H; 17:3941038-3941038 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1323G>A; p.T441T; 17:3943487-3943487 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2011C>G; p.R671G; 17:3941060-3941060 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2465G>A; p.R822Q; 17:3936326-3936326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3105G>A; p.S1035S; 17:3928015-3928015 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.539T>G; p.L180R; 17:3950698-3950698 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.188G>A; p.R63H; 17:3953378-3953378 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2020C>T; p.R674C; 17:3941051-3941051 |
large_intestine; rectum | NS | Substitution - Missense |
c.188G>A; p.R63H; 17:3953378-3953378 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3099C>T; p.I1033I; 17:3928021-3928021 |
NS | malignant_melanoma | Substitution - coding silent |
c.2284C>T; p.R762C; 17:3937453-3937453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3099C>T; p.I1033I; 17:3928021-3928021 |
NS | malignant_melanoma | Substitution - coding silent |
c.1484C>T; p.S495F; 17:3942667-3942667 |
skin | malignant_melanoma | Substitution - Missense |
c.810C>G; p.A270A; 17:3947676-3947676 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1252G>A; p.A418T; 17:3944739-3944739 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2056C>T; p.R686C; 17:3941015-3941015 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2948C>T; p.A983V; 17:3928695-3928695 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.951A>G; p.T317T; 17:3947535-3947535 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1907G>T; p.C636F; 17:3941164-3941164 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.720G>C; p.A240A; 17:3947766-3947766 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.333C>T; p.N111N; 17:3951381-3951381 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1657G>A; p.G553S; 17:3941543-3941543 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1313G>A; p.G438E; 17:3943497-3943497 |
skin | malignant_melanoma | Substitution - Missense |
c.542C>T; p.T181M; 17:3950695-3950695 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.542C>T; p.T181M; 17:3950695-3950695 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.469G>A; p.D157N; 17:3950768-3950768 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.542C>T; p.T181M; 17:3950695-3950695 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2976G>A; p.M992I; 17:3928667-3928667 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1648C>T; p.R550W; 17:3941552-3941552 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.590C>A; p.P197H; 17:3950551-3950551 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122G>A; p.A708T; 17:3937615-3937615 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1648C>T; p.R550W; 17:3941552-3941552 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2630C>T; p.S877F; 17:3930415-3930415 |
skin | malignant_melanoma | Substitution - Missense |
c.1567G>A; p.E523K; 17:3941633-3941633 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122G>A; p.A708T; 17:3937615-3937615 |
prostate | carcinoma | Substitution - Missense |
c.1648C>T; p.R550W; 17:3941552-3941552 |
stomach | adenocarcinoma | Substitution - Missense |
c.2016C>T; p.T672T; 17:3941055-3941055 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1059G>A; p.T353T; 17:3947427-3947427 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2316C>T; p.V772V; 17:3937421-3937421 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1705G>A; p.A569T; 17:3941495-3941495 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2186C>T; p.S729L; 17:3937551-3937551 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2021G>T; p.R674L; 17:3941050-3941050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2021G>T; p.R674L; 17:3941050-3941050 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2986C>T; p.L996F; 17:3928322-3928322 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1804C>T; p.P602S; 17:3941267-3941267 |
skin | malignant_melanoma | Substitution - Missense |
c.2091C>T; p.I697I; 17:3940980-3940980 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2021G>A; p.R674H; 17:3941050-3941050 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2490T>G; p.S830R; 17:3936301-3936301 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>A; p.V146I; 17:3951278-3951278 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1702G>T; p.D568Y; 17:3941498-3941498 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1497G>A; p.T499T; 17:3942654-3942654 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1909C>T; p.R637C; 17:3941162-3941162 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1679G>A; p.R560H; 17:3941521-3941521 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.420C>T; p.I140I; 17:3951294-3951294 |
skin | malignant_melanoma | Substitution - coding silent |
c.894C>T; p.I298I; 17:3947592-3947592 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1710C>T; p.P570P; 17:3941490-3941490 |
skin | malignant_melanoma | Substitution - coding silent |
c.853G>A; p.G285S; 17:3947633-3947633 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.853G>A; p.G285S; 17:3947633-3947633 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.736C>A; p.R246R; 17:3947750-3947750 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2034C>T; p.R678R; 17:3941037-3941037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2034C>T; p.R678R; 17:3941037-3941037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2034C>T; p.R678R; 17:3941037-3941037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317G>A; p.E439E; 17:3943493-3943493 |
skin | malignant_melanoma | Substitution - coding silent |
c.1989C>T; p.P663P; 17:3941082-3941082 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3075C>T; p.A1025A; 17:3928233-3928233 |
skin | malignant_melanoma | Substitution - coding silent |
c.1833C>G; p.I611M; 17:3941238-3941238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2894G>A; p.R965H; 17:3928749-3928749 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.282C>T; p.I94I; 17:3951623-3951623 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1231G>A; p.V411M; 17:3944760-3944760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1140C>T; p.H380H; 17:3945104-3945104 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3006G>A; p.R1002R; 17:3928302-3928302 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2707G>A; p.V903M; 17:3930338-3930338 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2103T>C; p.T701T; 17:3937634-3937634 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2534G>T; p.G845V; 17:3935268-3935268 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.736C>T; p.R246W; 17:3947750-3947750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.590C>G; p.P197R; 17:3950551-3950551 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2247G>A; p.E749E; 17:3937490-3937490 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1505G>A; p.R502H; 17:3942646-3942646 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2474G>A; p.R825Q; 17:3936317-3936317 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2364C>T; p.I788I; 17:3936427-3936427 |
skin | malignant_melanoma | Substitution - coding silent |
c.781T>C; p.S261P; 17:3947705-3947705 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3104C>T; p.S1035L; 17:3928016-3928016 |
breast | carcinoma | Substitution - Missense |
c.1566C>T; p.I522I; 17:3941634-3941634 |
skin | malignant_melanoma | Substitution - coding silent |
c.1566C>T; p.I522I; 17:3941634-3941634 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.936G>T; p.P312P; 17:3947550-3947550 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1810C>T; p.R604*; 17:3941261-3941261 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.744G>A; p.P248P; 17:3947742-3947742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1715G>A; p.R572K; 17:3941485-3941485 |
skin | malignant_melanoma | Substitution - Missense |
c.3070T>C; p.L1024L; 17:3928238-3928238 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1399C>T; p.R467*; 17:3943411-3943411 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |