Entrez Gene

Basic Information
Gene ID	6334
Name	SCN8A
Synonymous	sodium channel, voltage gated, type VIII alpha subunit;SCN8A;sodium channel, voltage gated, type VIII alpha subunit
Definition	hNa6/Scn8a voltage-gated sodium channel\|sodium channel protein type 8 subunit alpha\|sodium channel, voltage gated, type VIII, alpha subunit\|voltage-gated sodium channel subunit alpha Nav1.6
Position	12q13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2074G>A; p.G692R; 12:51745978-51745978	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2463C>T; p.D821D; 12:51762595-51762595	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.473C>T; p.S158L; 12:51686445-51686445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3639C>A; p.G1213G; 12:51770677-51770677	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1250A>G; p.Q417R; 12:51705532-51705532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5569G>A; p.G1857R; 12:51807055-51807055	central_nervous_system; brain	glioma	Substitution - Missense
c.5110T>A; p.S1704T; 12:51806596-51806596	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3030G>T; p.W1010C; 12:51768993-51768993	kidney	other; neoplasm	Substitution - Missense
c.8C>T; p.A3V; 12:51662825-51662825	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2415A>T; p.I805I; 12:51762547-51762547	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3664A>G; p.I1222V; 12:51774207-51774207	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4030A>G; p.M1344V; 12:51786629-51786629	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1291G>A; p.E431K; 12:51705573-51705573	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4282-1G>A; p.?; 12:51789280-51789280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1291G>A; p.E431K; 12:51705573-51705573	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5737C>T; p.R1913W; 12:51807223-51807223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1291G>A; p.E431K; 12:51705573-51705573	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4282-1G>A; p.?; 12:51789280-51789280	autonomic_ganglia	neuroblastoma	Unknown
c.1658C>T; p.S553L; 12:51721568-51721568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3110T>G; p.L1037W; 12:51769073-51769073	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.817T>C; p.F273L; 12:51699680-51699680	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3647C>T; p.A1216V; 12:51774190-51774190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2393C>G; p.A798G; 12:51762525-51762525	liver	carcinoma	Substitution - Missense
c.2393C>G; p.A798G; 12:51762525-51762525	liver	carcinoma	Substitution - Missense
c.3107delA; p.E1036fs*57; 12:51769070-51769070	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1937A>C; p.N646T; 12:51721847-51721847	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5457C>T; p.L1819L; 12:51806943-51806943	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4170G>C; p.K1390N; 12:51786769-51786769	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2417C>T; p.A806V; 12:51762549-51762549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4278G>T; p.R1426R; 12:51788745-51788745	liver	carcinoma	Substitution - coding silent
c.368G>C; p.R123T; 12:51684265-51684265	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4231A>C; p.T1411P; 12:51788698-51788698	breast	carcinoma	Substitution - Missense
c.1305_1306insT; p.L436fs*5; 12:51705587-51705588	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3439C>T; p.P1147S; 12:51769934-51769934	skin	malignant_melanoma	Substitution - Missense
c.3583G>A; p.V1195M; 12:51770621-51770621	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3684C>T; p.I1228I; 12:51774227-51774227	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.307C>G; p.L103V; 12:51684204-51684204	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5535G>A; p.L1845L; 12:51807021-51807021	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3352G>T; p.D1118Y; 12:51769315-51769315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1423C>T; p.R475W; 12:51706503-51706503	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1951C>A; p.L651I; 12:51721861-51721861	liver	carcinoma	Substitution - Missense
c.1557G>C; p.E519D; 12:51706637-51706637	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2689T>C; p.F897L; 12:51765815-51765815	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5614C>T; p.R1872W; 12:51807100-51807100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5614C>T; p.R1872W; 12:51807100-51807100	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955C>T; p.L319L; 12:51701170-51701170	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3931G>A; p.E1311K; 12:51780760-51780760	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4730G>A; p.R1577K; 12:51794576-51794576	skin	malignant_melanoma	Substitution - Missense
c.3824C>T; p.S1275F; 12:51780653-51780653	ovary	other; neoplasm	Substitution - Missense
c.1707G>A; p.R569R; 12:51721617-51721617	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4003C>T; p.L1335F; 12:51786602-51786602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4405C>A; p.Q1469K; 12:51789404-51789404	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2531G>A; p.R844Q; 12:51762663-51762663	skin	malignant_melanoma	Substitution - Missense
c.1926G>A; p.T642T; 12:51721836-51721836	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5653C>A; p.P1885T; 12:51807139-51807139	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5353T>G; p.F1785V; 12:51806839-51806839	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	thyroid	other; neoplasm	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1173C>T; p.F391F; 12:51705455-51705455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1669T>C; p.S557P; 12:51721579-51721579	thyroid	other; neoplasm	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1655G>C; p.G552A; 12:51721565-51721565	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1669T>C; p.S557P; 12:51721579-51721579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2498G>C; p.S833T; 12:51762630-51762630	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1661C>A; p.P554H; 12:51721571-51721571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1874G>A; p.R625H; 12:51721784-51721784	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.388A>T; p.I130L; 12:51684285-51684285	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>A; p.V643M; 12:51721837-51721837	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2693G>A; p.G898E; 12:51765819-51765819	skin	malignant_melanoma	Substitution - Missense
c.5828_5829CC>TT; p.S1943F; 12:51807314-51807315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1673G>A; p.R558H; 12:51721583-51721583	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5377G>A; p.E1793K; 12:51806863-51806863	skin	malignant_melanoma	Substitution - Missense
c.1361C>T; p.S454L; 12:51706441-51706441	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3048C>T; p.H1016H; 12:51769011-51769011	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1535C>T; p.P512L; 12:51706615-51706615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999C>A; p.S1000*; 12:51768962-51768962	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4173C>T; p.N1391N; 12:51786772-51786772	pancreas	carcinoma	Substitution - coding silent
c.4011C>T; p.F1337F; 12:51786610-51786610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3926G>A; p.R1309Q; 12:51780755-51780755	skin	malignant_melanoma	Substitution - Missense
c.3926G>A; p.R1309Q; 12:51780755-51780755	skin	malignant_melanoma	Substitution - Missense
c.5825C>G; p.A1942G; 12:51807311-51807311	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2496G>C; p.L832L; 12:51762628-51762628	breast	carcinoma	Substitution - coding silent
c.5698G>T; p.V1900L; 12:51807184-51807184	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2440C>T; p.Q814*; 12:51762572-51762572	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4490C>T; p.S1497L; 12:51790468-51790468	skin	malignant_melanoma	Substitution - Missense
c.5882C>T; p.A1961V; 12:51807368-51807368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3456G>T; p.E1152D; 12:51769951-51769951	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2516G>C; p.G839A; 12:51762648-51762648	skin	malignant_melanoma	Substitution - Missense
c.1609G>T; p.G537W; 12:51706689-51706689	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5215C>A; p.P1739T; 12:51806701-51806701	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.724G>A; p.G242S; 12:51699587-51699587	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2264T>C; p.V755A; 12:51751487-51751487	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4057T>G; p.Y1353D; 12:51786656-51786656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3444G>T; p.V1148V; 12:51769939-51769939	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.847G>A; p.V283M; 12:51699710-51699710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2289C>G; p.I763M; 12:51751512-51751512	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5031G>A; p.K1677K; 12:51806517-51806517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5133G>T; p.L1711L; 12:51806619-51806619	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2186C>A; p.T729N; 12:51751409-51751409	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2289C>G; p.I763M; 12:51751512-51751512	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2423A>G; p.D808G; 12:51762555-51762555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1836C>T; p.S612S; 12:51721746-51721746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4538G>A; p.G1513E; 12:51794384-51794384	breast	carcinoma	Substitution - Missense
c.2971G>A; p.D991N; 12:51768934-51768934	skin	malignant_melanoma	Substitution - Missense
c.2539C>A; p.R847R; 12:51762671-51762671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1803C>G; p.L601L; 12:51721713-51721713	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1752G>A; p.A584A; 12:51721662-51721662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1980_1981insG; p.R662fs*9; 12:51721890-51721891	skin	malignant_melanoma	Insertion - Frameshift
c.3546G>C; p.K1182N; 12:51770584-51770584	breast	carcinoma	Substitution - Missense
c.1350G>A; p.A450A; 12:51706430-51706430	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3743T>C; p.L1248S; 12:51774286-51774286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3999G>C; p.V1333V; 12:51786598-51786598	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5640A>G; p.K1880K; 12:51807126-51807126	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1093C>T; p.R365C; 12:51702873-51702873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3849C>T; p.A1283A; 12:51780678-51780678	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4617G>C; p.M1539I; 12:51794463-51794463	urinary_tract; bladder	carcinoma	Substitution - Missense
c.382_383insT; p.L129fs*7; 12:51684279-51684280	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.216C>T; p.I72I; 12:51663033-51663033	skin	malignant_melanoma	Substitution - coding silent
c.3582C>T; p.I1194I; 12:51770620-51770620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4809A>G; p.A1603A; 12:51806295-51806295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.573G>A; p.R191R; 12:51687178-51687178	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4225G>A; p.V1409I; 12:51786824-51786824	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1416C>A; p.G472G; 12:51706496-51706496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5842G>C; p.D1948H; 12:51807328-51807328	pancreas	carcinoma	Substitution - Missense
c.148G>A; p.D50N; 12:51662965-51662965	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4940C>T; p.S1647F; 12:51806426-51806426	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3775T>A; p.F1259I; 12:51774318-51774318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4050G>A; p.A1350A; 12:51786649-51786649	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5361C>T; p.T1787T; 12:51806847-51806847	skin	malignant_melanoma	Substitution - coding silent
c.5035G>A; p.E1679K; 12:51806521-51806521	skin	malignant_melanoma	Substitution - Missense
c.2926C>T; p.L976F; 12:51768889-51768889	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4722T>G; p.F1574L; 12:51794568-51794568	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5662A>T; p.T1888S; 12:51807148-51807148	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1817G>A; p.R606Q; 12:51721727-51721727	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.659G>A; p.R220H; 12:51688802-51688802	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5459G>T; p.R1820L; 12:51806945-51806945	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4900G>A; p.A1634T; 12:51806386-51806386	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4210C>A; p.L1404M; 12:51786809-51786809	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5551T>G; p.F1851V; 12:51807037-51807037	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3967G>A; p.A1323T; 12:51786566-51786566	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.5211G>A; p.G1737G; 12:51806697-51806697	skin	malignant_melanoma	Substitution - coding silent
c.3758C>A; p.A1253D; 12:51774301-51774301	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.907G>A; p.E303K; 12:51699770-51699770	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4819G>A; p.E1607K; 12:51806305-51806305	skin	malignant_melanoma	Substitution - Missense
c.4422C>T; p.F1474F; 12:51790400-51790400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2290G>A; p.V764I; 12:51751513-51751513	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4281G>A; p.K1427K; 12:51788748-51788748	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3966C>T; p.G1322G; 12:51786565-51786565	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3966C>T; p.G1322G; 12:51786565-51786565	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3966C>T; p.G1322G; 12:51786565-51786565	prostate	carcinoma	Substitution - coding silent
c.2805G>T; p.G935G; 12:51765931-51765931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2989C>A; p.L997I; 12:51768952-51768952	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4450G>A; p.E1484K; 12:51790428-51790428	skin	malignant_melanoma	Substitution - Missense
c.4977C>T; p.F1659F; 12:51806463-51806463	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1597G>A; p.D533N; 12:51706677-51706677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3235A>G; p.I1079V; 12:51769198-51769198	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.832C>T; p.R278*; 12:51699695-51699695	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2580C>A; p.T860T; 12:51765706-51765706	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.571C>T; p.R191W; 12:51687176-51687176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5711G>A; p.R1904H; 12:51807197-51807197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1846G>A; p.G616S; 12:51721756-51721756	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4541T>A; p.I1514N; 12:51794387-51794387	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3350C>T; p.S1117L; 12:51769313-51769313	skin	malignant_melanoma	Substitution - Missense
c.765G>T; p.M255I; 12:51699628-51699628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5623G>A; p.A1875T; 12:51807109-51807109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1619T>C; p.F540S; 12:51706699-51706699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3135C>T; p.I1045I; 12:51769098-51769098	skin	malignant_melanoma	Substitution - coding silent
c.4401C>A; p.F1467L; 12:51789400-51789400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.542G>A; p.G181D; 12:51687147-51687147	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1134+5G>T; p.?; 12:51702919-51702919	liver	carcinoma	Unknown
c.2509G>A; p.V837M; 12:51762641-51762641	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1134+5G>T; p.?; 12:51702919-51702919	liver	carcinoma	Unknown
c.3502C>T; p.R1168W; 12:51770540-51770540	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5650G>A; p.E1884K; 12:51807136-51807136	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3392C>A; p.S1131Y; 12:51769887-51769887	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5006G>A; p.G1669E; 12:51806492-51806492	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1007G>A; p.G336E; 12:51702787-51702787	skin	malignant_melanoma	Substitution - Missense
c.3745C>T; p.L1249F; 12:51774288-51774288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.614C>T; p.A205V; 12:51687219-51687219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5521C>T; p.R1841C; 12:51807007-51807007	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.805G>A; p.G269R; 12:51699668-51699668	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.805G>A; p.G269R; 12:51699668-51699668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5596C>T; p.R1866W; 12:51807082-51807082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>A; p.D301N; 12:51699764-51699764	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5596C>T; p.R1866W; 12:51807082-51807082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.429delG; p.T144fs*6; 12:51686401-51686401	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5216C>T; p.P1739L; 12:51806702-51806702	skin	malignant_melanoma	Substitution - Missense
c.4590G>T; p.M1530I; 12:51794436-51794436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5592C>T; p.I1864I; 12:51807078-51807078	skin	malignant_melanoma	Substitution - coding silent
c.2791C>T; p.R931*; 12:51765917-51765917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2791C>T; p.R931*; 12:51765917-51765917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.498A>G; p.T166T; 12:51687103-51687103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1335G>T; p.E445D; 12:51705617-51705617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2465G>A; p.G822E; 12:51762597-51762597	skin	malignant_melanoma	Substitution - Missense
c.2935T>C; p.S979P; 12:51768898-51768898	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2465G>A; p.G822E; 12:51762597-51762597	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1759G>A; p.E587K; 12:51721669-51721669	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2465G>A; p.G822E; 12:51762597-51762597	skin	malignant_melanoma	Substitution - Missense
c.2995A>T; p.I999F; 12:51768958-51768958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5673T>C; p.R1891R; 12:51807159-51807159	breast	carcinoma	Substitution - coding silent
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1649T>C; p.I550T; 12:51721559-51721559	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5385C>T; p.F1795F; 12:51806871-51806871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3177C>T; p.F1059F; 12:51769140-51769140	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5385C>T; p.F1795F; 12:51806871-51806871	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2273C>T; p.A758V; 12:51751496-51751496	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5385C>T; p.F1795F; 12:51806871-51806871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2041C>A; p.L681I; 12:51745945-51745945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5199G>A; p.K1733K; 12:51806685-51806685	skin	malignant_melanoma	Substitution - coding silent
c.5496G>A; p.M1832I; 12:51806982-51806982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4204G>A; p.G1402R; 12:51786803-51786803	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3351G>T; p.S1117S; 12:51769314-51769314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2726A>T; p.N909I; 12:51765852-51765852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3487G>A; p.E1163K; 12:51769982-51769982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2787C>A; p.V929V; 12:51765913-51765913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4322A>C; p.Y1441S; 12:51789321-51789321	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4215C>A; p.A1405A; 12:51786814-51786814	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2491G>A; p.E831K; 12:51762623-51762623	skin	malignant_melanoma	Substitution - Missense
c.4091G>T; p.R1364L; 12:51786690-51786690	liver	carcinoma	Substitution - Missense
c.4091G>T; p.R1364L; 12:51786690-51786690	liver	carcinoma	Substitution - Missense
c.442T>G; p.F148V; 12:51686414-51686414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3027C>A; p.A1009A; 12:51768990-51768990	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4358_4359insCTTCACC; p.N1457fs*11; 12:51789357-51789358	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.3379G>T; p.D1127Y; 12:51769874-51769874	breast	carcinoma	Substitution - Missense
c.2425C>T; p.P809S; 12:51762557-51762557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1825G>A; p.E609K; 12:51721735-51721735	breast	carcinoma	Substitution - Missense
c.2425C>T; p.P809S; 12:51762557-51762557	skin	malignant_melanoma	Substitution - Missense
c.5065G>T; p.E1689*; 12:51806551-51806551	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.147G>A; p.E49E; 12:51662964-51662964	skin	malignant_melanoma	Substitution - coding silent
c.993-1G>A; p.?; 12:51702772-51702772	lung	carcinoma; small_cell_carcinoma	Unknown
c.4961T>C; p.I1654T; 12:51806447-51806447	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5577C>T; p.S1859S; 12:51807063-51807063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2087G>C; p.R696T; 12:51745991-51745991	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5879G>C; p.R1960P; 12:51807365-51807365	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4485G>C; p.L1495L; 12:51790463-51790463	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3151G>A; p.A1051T; 12:51769114-51769114	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.507T>C; p.Y169Y; 12:51687112-51687112	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2341T>G; p.F781V; 12:51751564-51751564	breast	carcinoma	Substitution - Missense
c.5271C>T; p.V1757V; 12:51806757-51806757	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2957C>T; p.A986V; 12:51768920-51768920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3008G>A; p.R1003H; 12:51768971-51768971	breast	carcinoma	Substitution - Missense
c.4509T>C; p.P1503P; 12:51790487-51790487	thyroid	other; neoplasm	Substitution - coding silent
c.5636C>T; p.S1879F; 12:51807122-51807122	skin	malignant_melanoma	Substitution - Missense
c.2742C>T; p.L914L; 12:51765868-51765868	skin	malignant_melanoma	Substitution - coding silent
c.1531G>A; p.D511N; 12:51706611-51706611	skin	malignant_melanoma	Substitution - Missense
c.1588C>T; p.R530W; 12:51706668-51706668	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.365G>C; p.R122T; 12:51684262-51684262	breast	carcinoma	Substitution - Missense
c.713A>G; p.K238R; 12:51699576-51699576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4780A>C; p.I1594L; 12:51794626-51794626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5617T>A; p.F1873I; 12:51807103-51807103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1659G>T; p.S553S; 12:51721569-51721569	liver	carcinoma	Substitution - coding silent
c.1659G>T; p.S553S; 12:51721569-51721569	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.967C>T; p.L323F; 12:51701182-51701182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2737G>A; p.E913K; 12:51765863-51765863	skin	malignant_melanoma	Substitution - Missense
c.655C>G; p.L219V; 12:51688798-51688798	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4023C>T; p.F1341F; 12:51786622-51786622	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1623C>T; p.S541S; 12:51706703-51706703	skin	malignant_melanoma	Substitution - coding silent
c.4528delA; p.I1511fs*19; 12:51794374-51794374	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2787C>G; p.V929V; 12:51765913-51765913	skin	malignant_melanoma	Substitution - coding silent
c.1174G>A; p.V392I; 12:51705456-51705456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2126T>C; p.V709A; 12:51746030-51746030	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.753G>A; p.L251L; 12:51699616-51699616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3401G>A; p.G1134E; 12:51769896-51769896	skin	malignant_melanoma	Substitution - Missense
c.4992C>T; p.I1664I; 12:51806478-51806478	skin	malignant_melanoma	Substitution - coding silent
c.5560C>T; p.R1854W; 12:51807046-51807046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1149C>T; p.A383A; 12:51705431-51705431	breast	carcinoma	Substitution - coding silent
c.121G>A; p.D41N; 12:51662938-51662938	breast	carcinoma	Substitution - Missense
c.5887G>A; p.E1963K; 12:51807373-51807373	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.347G>A; p.S116N; 12:51684244-51684244	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4209C>A; p.Y1403*; 12:51786808-51786808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5829C>T; p.S1943S; 12:51807315-51807315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.675G>A; p.L225L; 12:51688818-51688818	breast	carcinoma	Substitution - coding silent
c.946C>A; p.P316T; 12:51701161-51701161	ovary	other; neoplasm	Substitution - Missense
c.22C>T; p.P8S; 12:51662839-51662839	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3102G>A; p.L1034L; 12:51769065-51769065	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3853G>A; p.G1285S; 12:51780682-51780682	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5619C>T; p.F1873F; 12:51807105-51807105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1150G>A; p.G384R; 12:51705432-51705432	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.5619C>T; p.F1873F; 12:51807105-51807105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3777C>A; p.F1259L; 12:51774320-51774320	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5619C>T; p.F1873F; 12:51807105-51807105	skin	malignant_melanoma	Substitution - coding silent
c.474G>A; p.S158S; 12:51686446-51686446	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4786T>C; p.S1596P; 12:51794632-51794632	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2815G>C; p.E939Q; 12:51765941-51765941	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2764_2765insT; p.H924fs*16; 12:51765890-51765891	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.4514C>T; p.P1505L; 12:51790492-51790492	skin	malignant_melanoma	Substitution - Missense
c.3768C>T; p.F1256F; 12:51774311-51774311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.317T>G; p.F106C; 12:51684214-51684214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1851C>A; p.Y617*; 12:51721761-51721761	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5323G>A; p.E1775K; 12:51806809-51806809	skin	malignant_melanoma	Substitution - Missense
c.5487C>T; p.L1829L; 12:51806973-51806973	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1243G>A; p.E415K; 12:51705525-51705525	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.615-4G>T; p.?; 12:51688754-51688754	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Unknown
c.1292A>C; p.E431A; 12:51705574-51705574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.385T>G; p.L129V; 12:51684282-51684282	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3984G>A; p.M1328I; 12:51786583-51786583	breast	carcinoma	Substitution - Missense
c.2687T>A; p.L896H; 12:51765813-51765813	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1855G>A; p.G619S; 12:51721765-51721765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3603G>C; p.E1201D; 12:51770641-51770641	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2060A>G; p.Q687R; 12:51745964-51745964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4893C>G; p.I1631M; 12:51806379-51806379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3064C>G; p.H1022D; 12:51769027-51769027	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1457A>G; p.K486R; 12:51706537-51706537	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2012T>G; p.V671G; 12:51745916-51745916	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2012T>G; p.V671G; 12:51745916-51745916	breast	carcinoma	Substitution - Missense
c.3550T>C; p.W1184R; 12:51770588-51770588	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3693C>T; p.I1231I; 12:51774236-51774236	skin	malignant_melanoma	Substitution - coding silent
c.3929T>G; p.F1310C; 12:51780758-51780758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4282-9C>A; p.?; 12:51789272-51789272	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1749C>T; p.F583F; 12:51721659-51721659	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.615-6C>T; p.?; 12:51688752-51688752	pancreas	carcinoma	Unknown
c.5148C>T; p.N1716N; 12:51806634-51806634	skin	malignant_melanoma	Substitution - coding silent
c.4472C>T; p.A1491V; 12:51790450-51790450	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.867C>T; p.N289N; 12:51699730-51699730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4963G>A; p.G1655S; 12:51806449-51806449	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4819G>C; p.E1607Q; 12:51806305-51806305	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1095_1096CC>TT; p.L366F; 12:51702875-51702876	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.910G>C; p.E304Q; 12:51699773-51699773	breast	carcinoma	Substitution - Missense
c.402T>C; p.F134F; 12:51686374-51686374	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2792G>T; p.R931L; 12:51765918-51765918	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4858C>T; p.R1620*; 12:51806344-51806344	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Nonsense
c.402T>C; p.F134F; 12:51686374-51686374	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3007C>T; p.R1003C; 12:51768970-51768970	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1718G>T; p.R573L; 12:51721628-51721628	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5701G>A; p.V1901I; 12:51807187-51807187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1530G>A; p.G510G; 12:51706610-51706610	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]