| Gene ID | 213 |
| Symbol | ALB |
| Synonymous | ANALBA|FDAH|PRO0883|PRO0903|PRO1341 |
| Full name | albumin |
| Gene description | albumin (32 AA)|albumin (AA 34)|cell growth inhibiting protein 42|growth-inhibiting protein 20|serum albumin |
| Cytoband | 4q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:103600; HGNC:HGNC:399; Ensembl:ENSG00000163631; HPRD:00062; Vega:OTTHUMG00000129919 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1241_1242delAA; p.N415fs*2; 4:73416305-73416306 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1622C>A; p.S541Y; 4:73418281-73418281 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1241_1242delAA; p.N415fs*2; 4:73416305-73416306 |
liver | carcinoma | Deletion - Frameshift |
c.1297G>T; p.V433F; 4:73417538-73417538 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925G>A; p.E309K; 4:73413501-73413501 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.322T>C; p.Y108H; 4:73408645-73408645 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.77C>G; p.A26G; 4:73404404-73404404 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1283_1289+1delAGAATGCG; p.?; 4:73416347-73416354 |
liver | carcinoma | Unknown |
c.1785+2T>C; p.?; 4:73419641-73419641 |
breast | carcinoma | Unknown |
c.863T>A; p.I288N; 4:73413439-73413439 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1714_1717delATGG; p.D573fs*6; 4:73419568-73419571 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1714_1717delATGG; p.D573fs*6; 4:73419568-73419571 |
liver | carcinoma | Deletion - Frameshift |
c.1331C>T; p.T444I; 4:73417572-73417572 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.792_802del11; p.V265fs*8; 4:73412074-73412084 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.792_802del11; p.V265fs*8; 4:73412074-73412084 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1796T>G; p.L599R; 4:73420264-73420264 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.477G>A; p.L159L; 4:73408800-73408800 |
skin | malignant_melanoma | Substitution - coding silent |
c.1802C>T; p.A601V; 4:73420270-73420270 |
breast | carcinoma | Substitution - Missense |
c.1663G>C; p.E555Q; 4:73419517-73419517 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.946G>A; p.E316K; 4:73413522-73413522 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.701C>A; p.A234D; 4:73410397-73410397 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.406C>T; p.L136F; 4:73408729-73408729 |
skin | malignant_melanoma | Substitution - Missense |
c.373T>C; p.C125R; 4:73408696-73408696 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1012G>A; p.D338N; 4:73413588-73413588 |
skin | malignant_melanoma | Substitution - Missense |
c.378C>T; p.F126F; 4:73408701-73408701 |
skin | malignant_melanoma | Substitution - coding silent |
c.1074T>C; p.Y358Y; 4:73415050-73415050 |
liver | carcinoma | Substitution - coding silent |
c.1074T>C; p.Y358Y; 4:73415050-73415050 |
liver | carcinoma | Substitution - coding silent |
c.701C>T; p.A234V; 4:73410397-73410397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527C>T; p.P176L; 4:73409399-73409399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.647C>T; p.S216L; 4:73410343-73410343 |
skin | malignant_melanoma | Substitution - Missense |
c.647C>T; p.S216L; 4:73410343-73410343 |
skin | malignant_melanoma | Substitution - Missense |
c.1554T>C; p.D518D; 4:73418213-73418213 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.647C>T; p.S216L; 4:73410343-73410343 |
skin | malignant_melanoma | Substitution - Missense |
c.882G>A; p.S294S; 4:73413458-73413458 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1619T>A; p.L540H; 4:73418278-73418278 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.34C>T; p.L12F; 4:73404361-73404361 |
liver | carcinoma | Substitution - Missense |
c.742C>T; p.P248S; 4:73412024-73412024 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1168C>T; p.P390S; 4:73415144-73415144 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1168C>T; p.P390S; 4:73415144-73415144 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1168C>T; p.P390S; 4:73415144-73415144 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.3G>T; p.M1I; 4:73404330-73404330 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.742C>T; p.P248S; 4:73412024-73412024 |
skin | malignant_melanoma | Substitution - Missense |
c.413G>A; p.R138Q; 4:73408736-73408736 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.413G>A; p.R138Q; 4:73408736-73408736 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1168C>T; p.P390S; 4:73415144-73415144 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.535C>T; p.L179F; 4:73409407-73409407 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.535C>T; p.L179F; 4:73409407-73409407 |
skin | malignant_melanoma | Substitution - Missense |
c.1625A>T; p.E542V; 4:73418284-73418284 |
liver | carcinoma | Substitution - Missense |
c.849C>G; p.D283E; 4:73413425-73413425 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1625A>T; p.E542V; 4:73418284-73418284 |
liver | carcinoma | Substitution - Missense |
c.1136C>G; p.T379S; 4:73415112-73415112 |
ovary | other; neoplasm | Substitution - Missense |
c.1725C>T; p.F575F; 4:73419579-73419579 |
skin | malignant_melanoma | Substitution - coding silent |
c.100C>T; p.R34W; 4:73405136-73405136 |
skin | malignant_melanoma | Substitution - Missense |
c.1725C>T; p.F575F; 4:73419579-73419579 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1725C>T; p.F575F; 4:73419579-73419579 |
skin | malignant_melanoma | Substitution - coding silent |
c.1725C>T; p.F575F; 4:73419579-73419579 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1042G>A; p.D348N; 4:73413618-73413618 |
skin | malignant_melanoma | Substitution - Missense |
c.935A>G; p.H312R; 4:73413511-73413511 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.935A>G; p.H312R; 4:73413511-73413511 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.895C>G; p.L299V; 4:73413471-73413471 |
liver | carcinoma | Substitution - Missense |
c.895C>G; p.L299V; 4:73413471-73413471 |
liver | carcinoma | Substitution - Missense |
c.433G>A; p.D145N; 4:73408756-73408756 |
skin | malignant_melanoma | Substitution - Missense |
c.372A>T; p.E124D; 4:73408695-73408695 |
thyroid | carcinoma | Substitution - Missense |
c.1218A>G; p.E406E; 4:73416282-73416282 |
skin | malignant_melanoma | Substitution - coding silent |
c.399C>T; p.N133N; 4:73408722-73408722 |
skin | malignant_melanoma | Substitution - coding silent |
c.1050C>T; p.F350F; 4:73413626-73413626 |
skin | malignant_melanoma | Substitution - coding silent |
c.276C>T; p.T92T; 4:73408599-73408599 |
skin | malignant_melanoma | Substitution - coding silent |
c.1031C>T; p.A344V; 4:73413607-73413607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>T; p.E276*; 4:73412108-73412108 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1300C>T; p.R434C; 4:73417541-73417541 |
skin | malignant_melanoma | Substitution - Missense |
c.1300C>T; p.R434C; 4:73417541-73417541 |
skin | malignant_melanoma | Substitution - Missense |
c.1300C>T; p.R434C; 4:73417541-73417541 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.429G>A; p.E143E; 4:73408752-73408752 |
skin | malignant_melanoma | Substitution - coding silent |
c.1404_1406delAAG; p.R469delR; 4:73417645-73417647 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.1404_1406delAAG; p.R469delR; 4:73417645-73417647 |
liver | carcinoma | Deletion - In frame |
c.1289+1G>A; p.?; 4:73416354-73416354 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.650C>T; p.S217F; 4:73410346-73410346 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1286A>C; p.N429T; 4:73416350-73416350 |
liver | carcinoma | Substitution - Missense |
c.1286A>C; p.N429T; 4:73416350-73416350 |
liver | carcinoma | Substitution - Missense |
c.463G>A; p.E155K; 4:73408786-73408786 |
skin | malignant_melanoma | Substitution - Missense |
c.590A>G; p.D197G; 4:73409462-73409462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.979C>T; p.P327S; 4:73413555-73413555 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1724T>G; p.F575C; 4:73419578-73419578 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.35T>G; p.L12R; 4:73404362-73404362 |
prostate | carcinoma | Substitution - Missense |
c.1281C>T; p.F427F; 4:73416345-73416345 |
skin | malignant_melanoma | Substitution - coding silent |
c.511C>A; p.P171T; 4:73409383-73409383 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.716C>T; p.A239V; 4:73411998-73411998 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.716C>T; p.A239V; 4:73411998-73411998 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630G>T; p.E544*; 4:73418289-73418289 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.411C>T; p.P137P; 4:73408734-73408734 |
skin | malignant_melanoma | Substitution - coding silent |
c.833C>T; p.A278V; 4:73412115-73412115 |
skin | malignant_melanoma | Substitution - Missense |
c.1759G>A; p.D587N; 4:73419613-73419613 |
skin | malignant_melanoma | Substitution - Missense |
c.129C>T; p.F43F; 4:73405165-73405165 |
skin | malignant_melanoma | Substitution - coding silent |
c.161A>T; p.Y54F; 4:73406652-73406652 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.313C>A; p.R105S; 4:73408636-73408636 |
liver | carcinoma | Substitution - Missense |
c.259G>A; p.D87N; 4:73406750-73406750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.936C>T; p.H312H; 4:73413512-73413512 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.936C>T; p.H312H; 4:73413512-73413512 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24C>T; p.S8S; 4:73404351-73404351 |
skin | malignant_melanoma | Substitution - coding silent |
c.692G>A; p.G231E; 4:73410388-73410388 |
skin | malignant_melanoma | Substitution - Missense |
c.618C>T; p.L206L; 4:73410314-73410314 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.932C>T; p.S311F; 4:73413508-73413508 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.932C>T; p.S311F; 4:73413508-73413508 |
skin | malignant_melanoma | Substitution - Missense |
c.1373G>A; p.G458D; 4:73417614-73417614 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.682C>A; p.Q228K; 4:73410378-73410378 |
skin | malignant_melanoma | Substitution - Missense |
c.495A>C; p.E165D; 4:73409367-73409367 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1616_1620delCACTT; p.T539fs*2; 4:73418275-73418279 |
liver | carcinoma | Deletion - Frameshift |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1429-1G>T; p.?; 4:73418087-73418087 |
liver | carcinoma | Unknown |
c.460_461delAA; p.N154fs*1; 4:73408783-73408784 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.460_461delAA; p.N154fs*1; 4:73408783-73408784 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1644G>T; p.K548N; 4:73418303-73418303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.719T>C; p.V240A; 4:73412001-73412001 |
liver | carcinoma | Substitution - Missense |
c.719T>C; p.V240A; 4:73412001-73412001 |
liver | carcinoma | Substitution - Missense |
c.53C>T; p.S18F; 4:73404380-73404380 |
skin | malignant_melanoma | Substitution - Missense |
c.631G>A; p.D211N; 4:73410327-73410327 |
skin | malignant_melanoma | Substitution - Missense |
c.881C>T; p.S294L; 4:73413457-73413457 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.906C>A; p.C302*; 4:73413482-73413482 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.881C>T; p.S294L; 4:73413457-73413457 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.881C>T; p.S294L; 4:73413457-73413457 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1437delG; p.V480fs*2; 4:73418096-73418096 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.881C>T; p.S294L; 4:73413457-73413457 |
skin | malignant_melanoma | Substitution - Missense |
c.1617A>G; p.T539T; 4:73418276-73418276 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1642_1644delAAG; p.K548delK; 4:73418301-73418303 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.1433C>T; p.S478F; 4:73418092-73418092 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1642_1644delAAG; p.K548delK; 4:73418301-73418303 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.1433C>T; p.S478F; 4:73418092-73418092 |
skin | malignant_melanoma | Substitution - Missense |
c.1585G>A; p.E529K; 4:73418244-73418244 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1406G>A; p.R469K; 4:73417647-73417647 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1567C>T; p.P523S; 4:73418226-73418226 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.702T>C; p.A234A; 4:73410398-73410398 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.702T>C; p.A234A; 4:73410398-73410398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.702T>C; p.A234A; 4:73410398-73410398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1400_1401insA; p.R469fs*21; 4:73417641-73417642 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.702T>C; p.A234A; 4:73410398-73410398 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.803A>T; p.E268V; 4:73412085-73412085 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1758C>G; p.D586E; 4:73419612-73419612 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.77C>A; p.A26E; 4:73404404-73404404 |
kidney | Wilms_tumour | Substitution - Missense |
c.39T>C; p.F13F; 4:73404366-73404366 |
liver | carcinoma | Substitution - coding silent |
c.39T>C; p.F13F; 4:73404366-73404366 |
liver | carcinoma | Substitution - coding silent |
c.1765G>T; p.E589*; 4:73419619-73419619 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1691C>A; p.T564K; 4:73419545-73419545 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.831T>G; p.C277W; 4:73412113-73412113 |
skin | malignant_melanoma | Substitution - Missense |
c.1609A>G; p.I537V; 4:73418268-73418268 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1549G>C; p.V517L; 4:73418208-73418208 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1227G>A; p.Q409Q; 4:73416291-73416291 |
skin | malignant_melanoma | Substitution - coding silent |
c.109G>A; p.D37N; 4:73405145-73405145 |
skin | malignant_melanoma | Substitution - Missense |
c.1300delC; p.R434fs*15; 4:73417541-73417541 |
liver | carcinoma | Deletion - Frameshift |
c.250_251insA; p.N85fs*3; 4:73406741-73406742 |
liver | carcinoma | Insertion - Frameshift |
c.1696G>C; p.E566Q; 4:73419550-73419550 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.667A>C; p.K223Q; 4:73410363-73410363 |
liver | carcinoma | Substitution - Missense |
c.949G>T; p.V317L; 4:73413525-73413525 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1716G>A; p.M572I; 4:73419570-73419570 |
skin | malignant_melanoma | Substitution - Missense |
c.1668C>T; p.L556L; 4:73419522-73419522 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1059-9C>G; p.?; 4:73415026-73415026 |
liver | carcinoma | Unknown |
c.1101C>T; p.V367V; 4:73415077-73415077 |
skin | malignant_melanoma | Substitution - coding silent |
c.1704G>A; p.L568L; 4:73419558-73419558 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.939C>T; p.C313C; 4:73413515-73413515 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1192-6T>A; p.?; 4:73416250-73416250 |
liver | carcinoma | Unknown |
c.1192-6T>A; p.?; 4:73416250-73416250 |
liver | carcinoma | Unknown |
c.1212T>C; p.L404L; 4:73416276-73416276 |
liver | carcinoma | Substitution - coding silent |
c.1212T>C; p.L404L; 4:73416276-73416276 |
liver | carcinoma | Substitution - coding silent |
c.1634G>A; p.R545K; 4:73418293-73418293 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1289C>T; p.A430V; 4:73416353-73416353 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.943G>A; p.A315T; 4:73413519-73413519 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.420G>T; p.V140V; 4:73408743-73408743 |
prostate | carcinoma | Substitution - coding silent |
c.1782G>T; p.E594D; 4:73419636-73419636 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.393T>C; p.D131D; 4:73408716-73408716 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.682_683delCA; p.Q228fs*23; 4:73410378-73410379 |
liver | carcinoma | Deletion - Frameshift |
c.713G>A; p.W238*; 4:73410409-73410409 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3G>A; p.M1I; 4:73404330-73404330 |
skin; back | malignant_melanoma | Substitution - Missense |
c.1786-8G>C; p.?; 4:73420246-73420246 |
ovary | other; neoplasm | Unknown |
c.910G>T; p.E304*; 4:73413486-73413486 |
liver | carcinoma | Substitution - Nonsense |
c.910G>T; p.E304*; 4:73413486-73413486 |
liver | carcinoma | Substitution - Nonsense |
c.648G>A; p.S216S; 4:73410344-73410344 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.535_546del12; p.L179_A182delLFFA; 4:73409407-73409418 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.29T>A; p.L10H; 4:73404356-73404356 |
breast | carcinoma | Substitution - Missense |
c.1364G>A; p.G455E; 4:73417605-73417605 |
skin | malignant_melanoma | Substitution - Missense |
c.1364G>A; p.G455E; 4:73417605-73417605 |
skin | malignant_melanoma | Substitution - Missense |
c.1364G>A; p.G455E; 4:73417605-73417605 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.23C>T; p.S8F; 4:73404350-73404350 |
NS | malignant_melanoma | Substitution - Missense |
c.23C>T; p.S8F; 4:73404350-73404350 |
NS | malignant_melanoma | Substitution - Missense |
c.23C>T; p.S8F; 4:73404350-73404350 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.23C>T; p.S8F; 4:73404350-73404350 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1137C>T; p.T379T; 4:73415113-73415113 |
skin | malignant_melanoma | Substitution - coding silent |
c.1290-10delT; p.?; 4:73417521-73417521 |
liver | carcinoma | Unknown |
c.127T>G; p.F43V; 4:73405163-73405163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.628C>T; p.R210W; 4:73410324-73410324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.628C>T; p.R210W; 4:73410324-73410324 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1129_1141del13; p.Y377fs*1; 4:73415105-73415117 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.281T>C; p.F94S; 4:73408604-73408604 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.579C>T; p.C193C; 4:73409451-73409451 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.544_545insC; p.K183fs*1; 4:73409416-73409417 |
liver | carcinoma | Insertion - Frameshift |
c.1645_1648delAAAC; p.Q550fs*7; 4:73418304-73418307 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1727_1728delCA; p.A576fs*10; 4:73419581-73419582 |
liver | carcinoma | Deletion - Frameshift |
c.254_255insT; p.C86fs*2; 4:73406745-73406746 |
liver | carcinoma | Insertion - Frameshift |
c.1411C>T; p.P471S; 4:73417652-73417652 |
skin | malignant_melanoma | Substitution - Missense |
c.71G>A; p.R24Q; 4:73404398-73404398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1774T>G; p.F592V; 4:73419628-73419628 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.71G>A; p.R24Q; 4:73404398-73404398 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.517T>G; p.F173V; 4:73409389-73409389 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.945C>T; p.A315A; 4:73413521-73413521 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.729G>C; p.L243L; 4:73412011-73412011 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1289+9_1289+24del16; p.?; 4:73416362-73416377 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1365delA; p.V457fs*25; 4:73417606-73417606 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.389A>G; p.K130R; 4:73408712-73408712 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.1786G>T; p.G596C; 4:73420254-73420254 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.871A>T; p.N291Y; 4:73413447-73413447 |
liver | carcinoma | Substitution - Missense |
c.871A>T; p.N291Y; 4:73413447-73413447 |
liver | carcinoma | Substitution - Missense |
c.1084C>T; p.H362Y; 4:73415060-73415060 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1084C>T; p.H362Y; 4:73415060-73415060 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1618_1621delCTTT; p.S541fs*16; 4:73418277-73418280 |
liver | carcinoma | Deletion - Frameshift |
c.1539A>G; p.S513S; 4:73418198-73418198 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.511C>T; p.P171S; 4:73409383-73409383 |
NS | malignant_melanoma | Substitution - Missense |
c.484T>A; p.Y162N; 4:73409356-73409356 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.667delA; p.K223fs*18; 4:73410363-73410363 |
liver | carcinoma | Deletion - Frameshift |
c.508C>T; p.H170Y; 4:73409380-73409380 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412C>T; p.R138*; 4:73408735-73408735 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.835G>T; p.D279Y; 4:73412117-73412117 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.619G>A; p.D207N; 4:73410315-73410315 |
skin | malignant_melanoma | Substitution - Missense |
c.59G>A; p.G20D; 4:73404386-73404386 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1538C>T; p.S513L; 4:73418197-73418197 |
skin | malignant_melanoma | Substitution - Missense |
c.391G>A; p.D131N; 4:73408714-73408714 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652+1G>A; p.?; 4:73418312-73418312 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.709G>A; p.A237T; 4:73410405-73410405 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.864C>T; p.I288I; 4:73413440-73413440 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.486C>A; p.Y162*; 4:73409358-73409358 |
liver | carcinoma | Substitution - Nonsense |
c.483-14_483-6delTTTTCAAAA; p.?; 4:73409341-73409349 |
liver | carcinoma | Unknown |
c.67C>T; p.R23C; 4:73404394-73404394 |
skin | malignant_melanoma | Substitution - Missense |
c.67C>T; p.R23C; 4:73404394-73404394 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1647A>G; p.K549K; 4:73418306-73418306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1576delT; p.F526fs*32; 4:73418235-73418235 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1576delT; p.F526fs*32; 4:73418235-73418235 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.956_958delATG; p.D320delD; 4:73413532-73413534 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.1208_1209delCT; p.L404fs*13; 4:73416272-73416273 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1210C>G; p.L404V; 4:73416274-73416274 |
liver | carcinoma | Substitution - Missense |
c.1194C>T; p.F398F; 4:73416258-73416258 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1194C>T; p.F398F; 4:73416258-73416258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1194C>T; p.F398F; 4:73416258-73416258 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1194C>T; p.F398F; 4:73416258-73416258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1194C>T; p.F398F; 4:73416258-73416258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1194C>T; p.F398F; 4:73416258-73416258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.676A>G; p.S226G; 4:73410372-73410372 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1780G>A; p.E594K; 4:73419634-73419634 |
skin; nipple | malignant_melanoma | Substitution - Missense |
c.1786-2A>T; p.?; 4:73420252-73420252 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.521A>T; p.Y174F; 4:73409393-73409393 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.522T>C; p.Y174Y; 4:73409394-73409394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1092T>A; p.D364E; 4:73415068-73415068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1785+8delA; p.?; 4:73419647-73419647 |
liver | carcinoma | Unknown |
c.713+8_713+9insT; p.?; 4:73410417-73410418 |
liver | carcinoma | Unknown |