| Gene ID | 2243 |
| Symbol | FGA |
| Synonymous | Fib2 |
| Full name | fibrinogen alpha chain |
| Gene description | fibrinogen, A alpha polypeptide |
| Cytoband | 4q28 |
| Gene type | protein-coding |
| Synonymous | MIM:134820; HGNC:HGNC:3661; Ensembl:ENSG00000171560; HPRD:00619; Vega:OTTHUMG00000150330 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1851T>C; p.H617H; 4:154585578-154585578 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.367C>T; p.R123C; 4:154587655-154587655 |
skin | malignant_melanoma | Substitution - Missense |
c.1010G>T; p.G337V; 4:154586419-154586419 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1892-3delT; p.?; 4:154584836-154584836 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.633C>A; p.D211E; 4:154586796-154586796 |
breast | carcinoma | Substitution - Missense |
c.145G>T; p.D49Y; 4:154589472-154589472 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2439A>G; p.Q813Q; 4:154584286-154584286 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.426G>A; p.K142K; 4:154587596-154587596 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1206C>T; p.N402N; 4:154586223-154586223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2539A>T; p.R847*; 4:154584186-154584186 |
liver | carcinoma | Substitution - Nonsense |
c.2104G>A; p.E702K; 4:154584621-154584621 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.115G>T; p.V39F; 4:154589502-154589502 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2104G>A; p.E702K; 4:154584621-154584621 |
skin | malignant_melanoma | Substitution - Missense |
c.896G>A; p.S299N; 4:154586533-154586533 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.703G>A; p.G235R; 4:154586726-154586726 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2104G>A; p.E702K; 4:154584621-154584621 |
skin | malignant_melanoma | Substitution - Missense |
c.2539A>T; p.R847*; 4:154584186-154584186 |
liver | carcinoma | Substitution - Nonsense |
c.2104G>A; p.E702K; 4:154584621-154584621 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2340C>T; p.H780H; 4:154584385-154584385 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2233G>T; p.G745C; 4:154584492-154584492 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2569C>T; p.R857C; 4:154584156-154584156 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2569C>T; p.R857C; 4:154584156-154584156 |
skin | malignant_melanoma | Substitution - Missense |
c.2569C>T; p.R857C; 4:154584156-154584156 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2569C>T; p.R857C; 4:154584156-154584156 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2569C>T; p.R857C; 4:154584156-154584156 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1701A>G; p.I567M; 4:154585728-154585728 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2245G>C; p.E749Q; 4:154584480-154584480 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2229G>C; p.R743R; 4:154584496-154584496 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.868A>C; p.S290R; 4:154586561-154586561 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.43G>T; p.G15C; 4:154590645-154590645 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.43G>T; p.G15C; 4:154590645-154590645 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.2183T>C; p.L728S; 4:154584542-154584542 |
skin | malignant_melanoma | Substitution - Missense |
c.2518G>T; p.G840*; 4:154584207-154584207 |
breast | carcinoma | Substitution - Nonsense |
c.2518G>T; p.G840*; 4:154584207-154584207 |
breast | carcinoma | Substitution - Nonsense |
c.1953G>T; p.K651N; 4:154584772-154584772 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1268G>A; p.G423E; 4:154586161-154586161 |
skin | malignant_melanoma | Substitution - Missense |
c.757G>A; p.D253N; 4:154586672-154586672 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1978_1979insT; p.S660fs*27; 4:154584746-154584747 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.744G>C; p.W248C; 4:154586685-154586685 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2252A>T; p.Y751F; 4:154584473-154584473 |
skin | malignant_melanoma | Substitution - Missense |
c.2025C>T; p.I675I; 4:154584700-154584700 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1198T>G; p.S400A; 4:154586231-154586231 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.555T>G; p.S185R; 4:154586874-154586874 |
stomach | adenocarcinoma | Substitution - Missense |
c.2025C>T; p.I675I; 4:154584700-154584700 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1171G>A; p.G391R; 4:154586258-154586258 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2082_2083delAG; p.G695fs*6; 4:154584642-154584643 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.2588T>C; p.L863P; 4:154584137-154584137 |
thyroid | carcinoma | Substitution - Missense |
c.1494C>T; p.G498G; 4:154585935-154585935 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2555C>T; p.S852F; 4:154584170-154584170 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1889G>A; p.R630K; 4:154585540-154585540 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2555C>T; p.S852F; 4:154584170-154584170 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2555C>T; p.S852F; 4:154584170-154584170 |
skin | malignant_melanoma | Substitution - Missense |
c.1541C>A; p.P514H; 4:154585888-154585888 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.995G>A; p.G332E; 4:154586434-154586434 |
skin | malignant_melanoma | Substitution - Missense |
c.1071C>A; p.T357T; 4:154586358-154586358 |
skin | malignant_melanoma | Substitution - coding silent |
c.1099C>T; p.R367C; 4:154586330-154586330 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2416G>A; p.G806S; 4:154584309-154584309 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2455G>A; p.G819R; 4:154584270-154584270 |
skin | malignant_melanoma | Substitution - Missense |
c.2116G>T; p.E706*; 4:154584609-154584609 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1866C>A; p.G622G; 4:154585563-154585563 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.2116G>T; p.E706*; 4:154584609-154584609 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1475C>T; p.P492L; 4:154585954-154585954 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814G>A; p.G272R; 4:154586615-154586615 |
skin | malignant_melanoma | Substitution - Missense |
c.431_432delAA; p.K144fs*16; 4:154587590-154587591 |
liver | carcinoma | Deletion - Frameshift |
c.1643G>A; p.G548D; 4:154585786-154585786 |
skin | malignant_melanoma | Substitution - Missense |
c.2489G>A; p.R830K; 4:154584236-154584236 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1257_1258insT; p.V420fs*18; 4:154586171-154586172 |
liver | carcinoma | Insertion - Frameshift |
c.2233_2234GG>TT; p.G745>?; 4:154584491-154584492 |
urinary_tract; bladder | carcinoma | Complex |
c.1781C>T; p.S594F; 4:154585648-154585648 |
skin | malignant_melanoma | Substitution - Missense |
c.99C>T; p.G33G; 4:154589518-154589518 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.99C>T; p.G33G; 4:154589518-154589518 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1736A>G; p.Y579C; 4:154585693-154585693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1641G>T; p.R547S; 4:154585788-154585788 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.585G>T; p.K195N; 4:154586844-154586844 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.460C>A; p.L154I; 4:154587562-154587562 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2489G>T; p.R830M; 4:154584236-154584236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1060C>A; p.P354T; 4:154586369-154586369 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2540G>C; p.R847T; 4:154584185-154584185 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2089G>A; p.G697S; 4:154584636-154584636 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1456G>A; p.E486K; 4:154585973-154585973 |
skin | malignant_melanoma | Substitution - Missense |
c.1456G>A; p.E486K; 4:154585973-154585973 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.346G>A; p.D116N; 4:154588811-154588811 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1102G>A; p.G368R; 4:154586327-154586327 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1103G>T; p.G368V; 4:154586326-154586326 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.E132G; 4:154587627-154587627 |
liver | carcinoma | Substitution - Missense |
c.395A>G; p.E132G; 4:154587627-154587627 |
liver | carcinoma | Substitution - Missense |
c.1479G>T; p.E493D; 4:154585950-154585950 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1158G>A; p.W386*; 4:154586271-154586271 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.864C>A; p.N288K; 4:154586565-154586565 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2564C>A; p.A855D; 4:154584161-154584161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2564C>A; p.A855D; 4:154584161-154584161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1452C>T; p.T484T; 4:154585977-154585977 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.74G>T; p.G25V; 4:154589543-154589543 |
breast | carcinoma | Substitution - Missense |
c.1043A>T; p.N348I; 4:154586386-154586386 |
prostate | carcinoma | Substitution - Missense |
c.588C>T; p.D196D; 4:154586841-154586841 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1561G>A; p.D521N; 4:154585868-154585868 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561G>A; p.D521N; 4:154585868-154585868 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1879C>T; p.R627C; 4:154585550-154585550 |
skin | malignant_melanoma | Substitution - Missense |
c.1150G>A; p.G384R; 4:154586279-154586279 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1879C>T; p.R627C; 4:154585550-154585550 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.528G>C; p.K176N; 4:154586901-154586901 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1372C>T; p.R458C; 4:154586057-154586057 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.528G>C; p.K176N; 4:154586901-154586901 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1830A>G; p.E610E; 4:154585599-154585599 |
skin | malignant_melanoma | Substitution - coding silent |
c.1778A>T; p.D593V; 4:154585651-154585651 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1778A>T; p.D593V; 4:154585651-154585651 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.983C>G; p.P328R; 4:154586446-154586446 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1805A>C; p.K602T; 4:154585624-154585624 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1375C>T; p.R459C; 4:154586054-154586054 |
skin | malignant_melanoma | Substitution - Missense |
c.963G>A; p.W321*; 4:154586466-154586466 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.987A>G; p.G329G; 4:154586442-154586442 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.541C>T; p.R181*; 4:154586888-154586888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2066G>A; p.W689*; 4:154584659-154584659 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.968C>T; p.P323L; 4:154586461-154586461 |
skin | malignant_melanoma | Substitution - Missense |
c.1504G>A; p.G502S; 4:154585925-154585925 |
skin | malignant_melanoma | Substitution - Missense |
c.1663A>G; p.T555A; 4:154585766-154585766 |
breast | carcinoma | Substitution - Missense |
c.640C>T; p.P214S; 4:154586789-154586789 |
skin | malignant_melanoma | Substitution - Missense |
c.640C>T; p.P214S; 4:154586789-154586789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.565G>T; p.A189S; 4:154586864-154586864 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2320G>T; p.G774W; 4:154584405-154584405 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1094C>T; p.S365F; 4:154586335-154586335 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.427C>T; p.R143C; 4:154587595-154587595 |
pancreas | carcinoma | Substitution - Missense |
c.354C>T; p.S118S; 4:154588803-154588803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2198G>A; p.G733E; 4:154584527-154584527 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1846A>G; p.T616A; 4:154585583-154585583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.427C>T; p.R143C; 4:154587595-154587595 |
pancreas | carcinoma | Substitution - Missense |
c.2323G>T; p.A775S; 4:154584402-154584402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1761G>C; p.T587T; 4:154585668-154585668 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1526T>A; p.F509Y; 4:154585903-154585903 |
skin | malignant_melanoma | Substitution - Missense |
c.2317G>A; p.E773K; 4:154584408-154584408 |
skin | malignant_melanoma | Substitution - Missense |
c.1675G>A; p.E559K; 4:154585754-154585754 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1192C>T; p.P398S; 4:154586237-154586237 |
skin | malignant_melanoma | Substitution - Missense |
c.923G>A; p.R308Q; 4:154586506-154586506 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.732A>G; p.V244V; 4:154586697-154586697 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.510G>T; p.E170D; 4:154587512-154587512 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.923G>A; p.R308Q; 4:154586506-154586506 |
skin | malignant_melanoma | Substitution - Missense |
c.923G>A; p.R308Q; 4:154586506-154586506 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.923G>A; p.R308Q; 4:154586506-154586506 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2449C>A; p.L817I; 4:154584276-154584276 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.755C>G; p.T252R; 4:154586674-154586674 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1575T>A; p.T525T; 4:154585854-154585854 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1391_1392CC>AA; p.T464K; 4:154586037-154586038 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.209T>C; p.M70T; 4:154588948-154588948 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2365G>A; p.D789N; 4:154584360-154584360 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.312G>A; p.S104S; 4:154588845-154588845 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.312G>A; p.S104S; 4:154588845-154588845 |
pancreas | carcinoma | Substitution - coding silent |
c.2564C>T; p.A855V; 4:154584161-154584161 |
skin | malignant_melanoma | Substitution - Missense |
c.2564C>T; p.A855V; 4:154584161-154584161 |
skin | malignant_melanoma | Substitution - Missense |
c.2367C>A; p.D789E; 4:154584358-154584358 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.816A>T; p.G272G; 4:154586613-154586613 |
skin | malignant_melanoma | Substitution - coding silent |
c.2560A>G; p.R854G; 4:154584165-154584165 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1695T>C; p.P565P; 4:154585734-154585734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.81_82insT; p.L28fs*3; 4:154589535-154589536 |
liver | carcinoma | Insertion - Frameshift |
c.1753A>T; p.S585C; 4:154585676-154585676 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1695T>C; p.P565P; 4:154585734-154585734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.415G>A; p.E139K; 4:154587607-154587607 |
skin | malignant_melanoma | Substitution - Missense |
c.533G>A; p.R178Q; 4:154586896-154586896 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.415G>A; p.E139K; 4:154587607-154587607 |
skin | malignant_melanoma | Substitution - Missense |
c.533G>A; p.R178Q; 4:154586896-154586896 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - Missense |
c.415G>A; p.E139K; 4:154587607-154587607 |
skin | malignant_melanoma | Substitution - Missense |
c.533G>A; p.R178Q; 4:154586896-154586896 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.415G>A; p.E139K; 4:154587607-154587607 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.898T>A; p.S300T; 4:154586531-154586531 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.331G>A; p.E111K; 4:154588826-154588826 |
skin | malignant_melanoma | Substitution - Missense |
c.331G>A; p.E111K; 4:154588826-154588826 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.331G>A; p.E111K; 4:154588826-154588826 |
skin | malignant_melanoma | Substitution - Missense |
c.2268C>A; p.S756S; 4:154584457-154584457 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1006T>C; p.S336P; 4:154586423-154586423 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2285C>T; p.A762V; 4:154584440-154584440 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2237C>A; p.S746Y; 4:154584488-154584488 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.821C>A; p.S274Y; 4:154586608-154586608 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1229G>A; p.W410*; 4:154586200-154586200 |
breast | carcinoma; lobular_carcinoma | Substitution - Nonsense |
c.1622T>A; p.V541D; 4:154585807-154585807 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.885G>T; p.W295C; 4:154586544-154586544 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1976T>G; p.F659C; 4:154584749-154584749 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.569G>A; p.R190H; 4:154586860-154586860 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2092A>C; p.S698R; 4:154584633-154584633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089C>T; p.G363G; 4:154586340-154586340 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2227C>T; p.R743W; 4:154584498-154584498 |
prostate | carcinoma | Substitution - Missense |
c.2038G>C; p.D680H; 4:154584687-154584687 |
breast | carcinoma | Substitution - Missense |
c.2374G>A; p.A792T; 4:154584351-154584351 |
skin | malignant_melanoma | Substitution - Missense |
c.1355G>T; p.G452V; 4:154586074-154586074 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2386G>A; p.E796K; 4:154584339-154584339 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1539_1540CC>TT; p.P514S; 4:154585889-154585890 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.238G>T; p.D80Y; 4:154588919-154588919 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.511G>A; p.V171M; 4:154586918-154586918 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1387A>C; p.K463Q; 4:154586042-154586042 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.849G>A; p.T283T; 4:154586580-154586580 |
skin | malignant_melanoma | Substitution - coding silent |
c.531C>T; p.I177I; 4:154586898-154586898 |
skin | malignant_melanoma | Substitution - coding silent |
c.2505T>G; p.Y835*; 4:154584220-154584220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2111A>G; p.E704G; 4:154584614-154584614 |
pancreas | carcinoma | Substitution - Missense |
c.332A>G; p.E111G; 4:154588825-154588825 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1817A>G; p.E606G; 4:154585612-154585612 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.507G>A; p.L169L; 4:154587515-154587515 |
skin | malignant_melanoma | Substitution - coding silent |
c.1822G>A; p.G608R; 4:154585607-154585607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1710C>T; p.F570F; 4:154585719-154585719 |
skin | malignant_melanoma | Substitution - coding silent |
c.1126G>A; p.E376K; 4:154586303-154586303 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1126G>A; p.E376K; 4:154586303-154586303 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1126G>A; p.E376K; 4:154586303-154586303 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2459T>G; p.I820S; 4:154584266-154584266 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2443G>A; p.A815T; 4:154584282-154584282 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.439G>A; p.E147K; 4:154587583-154587583 |
skin | malignant_melanoma | Substitution - Missense |
c.930T>C; p.P310P; 4:154586499-154586499 |
skin | malignant_melanoma | Substitution - coding silent |
c.520G>A; p.D174N; 4:154586909-154586909 |
skin | malignant_melanoma | Substitution - Missense |
c.1291G>A; p.E431K; 4:154586138-154586138 |
skin | malignant_melanoma | Substitution - Missense |
c.2283T>A; p.T761T; 4:154584442-154584442 |
pancreas | carcinoid-endocrine_tumour | Substitution - coding silent |
c.107G>T; p.G36V; 4:154589510-154589510 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2209T>C; p.Y737H; 4:154584516-154584516 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2228G>A; p.R743Q; 4:154584497-154584497 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1291G>A; p.E431K; 4:154586138-154586138 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.922C>T; p.R308*; 4:154586507-154586507 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1729T>C; p.S577P; 4:154585700-154585700 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1980T>G; p.S660S; 4:154584745-154584745 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1101C>T; p.R367R; 4:154586328-154586328 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1101C>T; p.R367R; 4:154586328-154586328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2234G>T; p.G745V; 4:154584491-154584491 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.145G>A; p.D49N; 4:154589472-154589472 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.214G>T; p.G72W; 4:154588943-154588943 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.902G>A; p.G301E; 4:154586527-154586527 |
skin | malignant_melanoma | Substitution - Missense |
c.1711C>A; p.P571T; 4:154585718-154585718 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2501C>T; p.P834L; 4:154584224-154584224 |
skin | malignant_melanoma | Substitution - Missense |
c.2007G>T; p.L669F; 4:154584718-154584718 |
skin | malignant_melanoma | Substitution - Missense |
c.848C>T; p.T283M; 4:154586581-154586581 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1728T>G; p.S576S; 4:154585701-154585701 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.600G>C; p.Q200H; 4:154586829-154586829 |
breast | carcinoma | Substitution - Missense |
c.815G>A; p.G272E; 4:154586614-154586614 |
skin | malignant_melanoma | Substitution - Missense |
c.510+10T>A; p.?; 4:154587502-154587502 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1591G>A; p.G531S; 4:154585838-154585838 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.309T>C; p.H103H; 4:154588848-154588848 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2286G>T; p.A762A; 4:154584439-154584439 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1591G>A; p.G531S; 4:154585838-154585838 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1782C>T; p.S594S; 4:154585647-154585647 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.764C>T; p.P255L; 4:154586665-154586665 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.163T>A; p.C55S; 4:154589454-154589454 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.647G>A; p.R216K; 4:154586782-154586782 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.653G>T; p.R218M; 4:154586776-154586776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1694C>A; p.P565H; 4:154585735-154585735 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2221C>T; p.H741Y; 4:154584504-154584504 |
skin | malignant_melanoma | Substitution - Missense |
c.2585C>A; p.P862H; 4:154584140-154584140 |
liver | carcinoma | Substitution - Missense |
c.2585C>A; p.P862H; 4:154584140-154584140 |
liver | carcinoma | Substitution - Missense |
c.1443A>C; p.E481D; 4:154585986-154585986 |
breast | carcinoma | Substitution - Missense |
c.1302C>A; p.V434V; 4:154586127-154586127 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1199C>T; p.S400F; 4:154586230-154586230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1082A>G; p.N361S; 4:154586347-154586347 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1880_1881insA; p.V629fs*5; 4:154585548-154585549 |
liver | carcinoma | Insertion - Frameshift |
c.61G>T; p.D21Y; 4:154589556-154589556 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1704T>A; p.A568A; 4:154585725-154585725 |
liver | carcinoma | Substitution - coding silent |
c.1704T>A; p.A568A; 4:154585725-154585725 |
liver | carcinoma | Substitution - coding silent |
c.685G>C; p.V229L; 4:154586744-154586744 |
prostate | carcinoma | Substitution - Missense |
c.1229G>T; p.W410L; 4:154586200-154586200 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1229G>T; p.W410L; 4:154586200-154586200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1341G>A; p.E447E; 4:154586088-154586088 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1527C>T; p.F509F; 4:154585902-154585902 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1527C>T; p.F509F; 4:154585902-154585902 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.986G>A; p.G329E; 4:154586443-154586443 |
skin | malignant_melanoma | Substitution - Missense |
c.1697G>T; p.G566V; 4:154585732-154585732 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2265C>G; p.V755V; 4:154584460-154584460 |
liver | carcinoma | Substitution - coding silent |
c.2265C>G; p.V755V; 4:154584460-154584460 |
liver | carcinoma | Substitution - coding silent |
c.804G>A; p.E268E; 4:154586625-154586625 |
skin | malignant_melanoma | Substitution - coding silent |
c.700C>G; p.P234A; 4:154586729-154586729 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1587C>T; p.F529F; 4:154585842-154585842 |
skin | malignant_melanoma | Substitution - coding silent |
c.1718G>A; p.R573H; 4:154585711-154585711 |
fallopian_tube | carcinoma; serous_carcinoma | Substitution - Missense |
c.1718G>A; p.R573H; 4:154585711-154585711 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.98G>A; p.G33D; 4:154589519-154589519 |
pancreas | carcinoma | Substitution - Missense |
c.98G>A; p.G33D; 4:154589519-154589519 |
pancreas | carcinoma | Substitution - Missense |
c.1587C>T; p.F529F; 4:154585842-154585842 |
skin | malignant_melanoma | Substitution - coding silent |
c.1989C>T; p.C663C; 4:154584736-154584736 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2129G>T; p.G710V; 4:154584596-154584596 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.901G>T; p.G301*; 4:154586528-154586528 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1766A>G; p.Y589C; 4:154585663-154585663 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.100G>A; p.V34M; 4:154589517-154589517 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1562A>T; p.D521V; 4:154585867-154585867 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.103C>T; p.R35C; 4:154589514-154589514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.625G>T; p.A209S; 4:154586804-154586804 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.103C>T; p.R35C; 4:154589514-154589514 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.878G>T; p.G293V; 4:154586551-154586551 |
breast | carcinoma | Substitution - Missense |
c.44G>A; p.G15D; 4:154590644-154590644 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.44G>A; p.G15D; 4:154590644-154590644 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.1163C>T; p.S388F; 4:154586266-154586266 |
skin | malignant_melanoma | Substitution - Missense |
c.2096T>C; p.L699P; 4:154584629-154584629 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036A>G; p.N346D; 4:154586393-154586393 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2508G>T; p.E836D; 4:154584217-154584217 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.888C>A; p.N296K; 4:154586541-154586541 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1643G>T; p.G548V; 4:154585786-154585786 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.104G>A; p.R35H; 4:154589513-154589513 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1643G>T; p.G548V; 4:154585786-154585786 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.104G>A; p.R35H; 4:154589513-154589513 |
pancreas | carcinoma | Substitution - Missense |
c.2311G>A; p.V771I; 4:154584414-154584414 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1284C>A; p.Y428*; 4:154586145-154586145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.784G>A; p.E262K; 4:154586645-154586645 |
skin | malignant_melanoma | Substitution - Missense |
c.1480G>A; p.A494T; 4:154585949-154585949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2490G>A; p.R830R; 4:154584235-154584235 |
skin | malignant_melanoma | Substitution - coding silent |
c.1247T>G; p.V416G; 4:154586182-154586182 |
breast | carcinoma | Substitution - Missense |
c.1379C>T; p.S460L; 4:154586050-154586050 |
skin | malignant_melanoma | Substitution - Missense |
c.1518G>A; p.L506L; 4:154585911-154585911 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1209G>A; p.A403A; 4:154586220-154586220 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1209G>A; p.A403A; 4:154586220-154586220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1209G>A; p.A403A; 4:154586220-154586220 |
prostate | carcinoma | Substitution - coding silent |
c.1207G>A; p.A403T; 4:154586222-154586222 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1207G>A; p.A403T; 4:154586222-154586222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.617A>T; p.Q206L; 4:154586812-154586812 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.402G>T; p.L134L; 4:154587620-154587620 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.151G>T; p.D51Y; 4:154589466-154589466 |
skin | malignant_melanoma | Substitution - Missense |
c.232A>C; p.N78H; 4:154588925-154588925 |
liver | carcinoma | Substitution - Missense |
c.430A>T; p.K144*; 4:154587592-154587592 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.397G>A; p.D133N; 4:154587625-154587625 |
skin | malignant_melanoma | Substitution - Missense |
c.305C>A; p.S102Y; 4:154588852-154588852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2534C>T; p.S845F; 4:154584191-154584191 |
skin | malignant_melanoma | Substitution - Missense |
c.2534C>T; p.S845F; 4:154584191-154584191 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2534C>T; p.S845F; 4:154584191-154584191 |
skin | malignant_melanoma | Substitution - Missense |
c.305C>A; p.S102Y; 4:154588852-154588852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1541C>G; p.P514R; 4:154585888-154585888 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.2103C>T; p.D701D; 4:154584622-154584622 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.532C>T; p.R178*; 4:154586897-154586897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.711T>G; p.F237L; 4:154586718-154586718 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1901A>G; p.D634G; 4:154584824-154584824 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.532C>T; p.R178*; 4:154586897-154586897 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2474G>A; p.G825D; 4:154584251-154584251 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2364T>A; p.F788L; 4:154584361-154584361 |
liver | carcinoma | Substitution - Missense |
c.1975T>G; p.F659V; 4:154584750-154584750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.950G>A; p.G317E; 4:154586479-154586479 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1112G>T; p.G371V; 4:154586317-154586317 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.574G>A; p.V192I; 4:154586855-154586855 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2096T>A; p.L699Q; 4:154584629-154584629 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2145C>A; p.H715Q; 4:154584580-154584580 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2334C>A; p.T778T; 4:154584391-154584391 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1032T>A; p.T344T; 4:154586397-154586397 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1046C>T; p.P349L; 4:154586383-154586383 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.391T>C; p.S131P; 4:154587631-154587631 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.391T>C; p.S131P; 4:154587631-154587631 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.480A>G; p.R160R; 4:154587542-154587542 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1201G>T; p.G401W; 4:154586228-154586228 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2179G>A; p.E727K; 4:154584546-154584546 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.311C>T; p.S104L; 4:154588846-154588846 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091G>C; p.S364T; 4:154586338-154586338 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1718G>T; p.R573L; 4:154585711-154585711 |
bone; tibia | chondrosarcoma | Substitution - Missense |
c.2570G>A; p.R857H; 4:154584155-154584155 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.311C>T; p.S104L; 4:154588846-154588846 |
skin | malignant_melanoma | Substitution - Missense |
c.311C>T; p.S104L; 4:154588846-154588846 |
skin | malignant_melanoma | Substitution - Missense |
c.765G>A; p.P255P; 4:154586664-154586664 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.311C>T; p.S104L; 4:154588846-154588846 |
skin | malignant_melanoma | Substitution - Missense |
c.2570G>A; p.R857H; 4:154584155-154584155 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.765G>A; p.P255P; 4:154586664-154586664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2119T>C; p.F707L; 4:154584606-154584606 |
prostate | carcinoma | Substitution - Missense |
c.991A>G; p.T331A; 4:154586438-154586438 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.991A>G; p.T331A; 4:154586438-154586438 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1883C>A; p.P628H; 4:154585546-154585546 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1693C>T; p.P565S; 4:154585736-154585736 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2088C>T; p.F696F; 4:154584637-154584637 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1832C>A; p.A611D; 4:154585597-154585597 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1212G>T; p.R404S; 4:154586217-154586217 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |