Entrez Gene

Basic Information
Gene ID	5933
Name	RBL1
Synonymous	retinoblastoma-like 1;RBL1;retinoblastoma-like 1
Definition	107 kDa retinoblastoma-associated protein\|cellular protein 107\|retinoblastoma-like 1 (p107)\|retinoblastoma-like protein 1
Position	20q11.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.54G>T; p.G18G; 20:37095875-37095875	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2084C>T; p.S695L; 20:37035328-37035328	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.3142C>T; p.Q1048*; 20:36998824-36998824	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2266C>A; p.H756N; 20:37032781-37032781	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2899C>T; p.P967S; 20:37003839-37003839	skin	malignant_melanoma	Substitution - Missense
c.387T>C; p.F129F; 20:37068090-37068090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1174C>A; p.Q392K; 20:37061179-37061179	skin	malignant_melanoma	Substitution - Missense
c.387T>C; p.F129F; 20:37068090-37068090	breast	carcinoma	Substitution - coding silent
c.3029C>A; p.P1010H; 20:37003709-37003709	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>C; p.K794N; 20:37032665-37032665	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2855C>T; p.A952V; 20:37007427-37007427	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1318C>G; p.Q440E; 20:37056191-37056191	breast	carcinoma	Substitution - Missense
c.1428G>A; p.M476I; 20:37055592-37055592	skin	malignant_melanoma	Substitution - Missense
c.3124C>T; p.P1042S; 20:36998842-36998842	skin	malignant_melanoma	Substitution - Missense
c.2478C>A; p.F826L; 20:37022731-37022731	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.893A>T; p.N298I; 20:37065427-37065427	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2432A>G; p.D811G; 20:37022777-37022777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3105C>T; p.I1035I; 20:36998861-36998861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.792_793insA; p.G265fs*8; 20:37066777-37066778	liver	carcinoma	Insertion - Frameshift
c.1702T>C; p.W568R; 20:37044154-37044154	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1468G>A; p.V490I; 20:37047190-37047190	skin; trunk	malignant_melanoma	Substitution - Missense
c.1492C>A; p.H498N; 20:37047166-37047166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3034A>G; p.K1012E; 20:37003704-37003704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2846A>G; p.Y949C; 20:37007436-37007436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1492C>A; p.H498N; 20:37047166-37047166	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1876C>T; p.R626*; 20:37040180-37040180	skin	malignant_melanoma	Substitution - Nonsense
c.1876C>T; p.R626*; 20:37040180-37040180	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1876C>T; p.R626*; 20:37040180-37040180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1680A>G; p.E560E; 20:37044176-37044176	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1309A>G; p.T437A; 20:37056200-37056200	liver	carcinoma	Substitution - Missense
c.1898G>A; p.R633Q; 20:37040158-37040158	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2668G>T; p.E890*; 20:37018333-37018333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2668G>T; p.E890*; 20:37018333-37018333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2753G>T; p.C918F; 20:37007529-37007529	prostate	carcinoma	Substitution - Missense
c.448C>T; p.P150S; 20:37068029-37068029	skin	malignant_melanoma	Substitution - Missense
c.482G>A; p.R161Q; 20:37067995-37067995	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3015G>T; p.K1005N; 20:37003723-37003723	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1316G>A; p.C439Y; 20:37056193-37056193	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1710C>T; p.H570H; 20:37044146-37044146	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1064T>C; p.L355P; 20:37062103-37062103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2847C>T; p.Y949Y; 20:37007435-37007435	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2226T>C; p.N742N; 20:37032821-37032821	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1967_1973delCTAAGAG; p.A656fs*18; 20:37035439-37035445	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.492-1_492GG>AA; p.?; 20:37067297-37067298	NS	malignant_melanoma	Unknown
c.1238T>C; p.I413T; 20:37061115-37061115	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2351G>T; p.R784I; 20:37032696-37032696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1500C>T; p.S500S; 20:37047158-37047158	skin; arm	malignant_melanoma	Substitution - coding silent
c.2099A>T; p.Q700L; 20:37035313-37035313	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2099A>T; p.Q700L; 20:37035313-37035313	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2176G>A; p.A726T; 20:37032871-37032871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.306delT; p.F102fs*4; 20:37068171-37068171	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.409A>C; p.K137Q; 20:37068068-37068068	skin; hand	malignant_melanoma	Substitution - Missense
c.3187A>C; p.S1063R; 20:36998779-36998779	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.R189W; 20:37067113-37067113	skin	malignant_melanoma	Substitution - Missense
c.565C>T; p.R189W; 20:37067113-37067113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1212G>C; p.L404L; 20:37061141-37061141	oesophagus	carcinoma	Substitution - coding silent
c.1442G>A; p.R481Q; 20:37055578-37055578	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.753A>T; p.V251V; 20:37066817-37066817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.335C>G; p.S112*; 20:37068142-37068142	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.335C>G; p.S112*; 20:37068142-37068142	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1833G>A; p.L611L; 20:37040223-37040223	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1833G>A; p.L611L; 20:37040223-37040223	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3088A>T; p.K1030*; 20:36998878-36998878	pancreas	carcinoma	Substitution - Nonsense
c.2748T>C; p.P916P; 20:37007534-37007534	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.121G>A; p.D41N; 20:37095808-37095808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1591T>C; p.F531L; 20:37047067-37047067	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.566G>A; p.R189Q; 20:37067112-37067112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.847-1G>T; p.?; 20:37065474-37065474	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.949G>C; p.D317H; 20:37062218-37062218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.55delG; p.E19fs*10; 20:37095874-37095874	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3158T>G; p.V1053G; 20:36998808-36998808	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2712G>T; p.M904I; 20:37018289-37018289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.70C>A; p.L24M; 20:37095859-37095859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.476G>A; p.R159Q; 20:37068001-37068001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.202C>T; p.R68C; 20:37089077-37089077	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1496G>A; p.R499H; 20:37047162-37047162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2963C>T; p.S988F; 20:37003775-37003775	skin	malignant_melanoma	Substitution - Missense
c.476G>A; p.R159Q; 20:37068001-37068001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.922G>C; p.E308Q; 20:37062245-37062245	skin	malignant_melanoma	Substitution - Missense
c.2053C>T; p.P685S; 20:37035359-37035359	skin	malignant_melanoma	Substitution - Missense
c.2378G>A; p.R793K; 20:37032669-37032669	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2189G>T; p.G730V; 20:37032858-37032858	liver	carcinoma	Substitution - Missense
c.817C>A; p.P273T; 20:37066753-37066753	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1565T>A; p.I522N; 20:37047093-37047093	liver	carcinoma	Substitution - Missense
c.3130A>G; p.K1044E; 20:36998836-36998836	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2806A>C; p.T936P; 20:37007476-37007476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3130A>G; p.K1044E; 20:36998836-36998836	large_intestine; colon	carcinoma	Substitution - Missense
c.3177G>A; p.Q1059Q; 20:36998789-36998789	liver	carcinoma	Substitution - coding silent
c.1635G>T; p.E545D; 20:37044221-37044221	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>T; p.Q348H; 20:37062123-37062123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3077A>C; p.Q1026P; 20:36998889-36998889	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2355T>C; p.T785T; 20:37032692-37032692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1083+1G>A; p.?; 20:37062083-37062083	skin; extremity	malignant_melanoma	Unknown
c.2787T>A; p.D929E; 20:37007495-37007495	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1584G>A; p.L528L; 20:37047074-37047074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1697T>G; p.L566*; 20:37044159-37044159	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2848G>A; p.D950N; 20:37007434-37007434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2785G>C; p.D929H; 20:37007497-37007497	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1957G>A; p.A653T; 20:37035455-37035455	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1265A>G; p.N422S; 20:37056244-37056244	pancreas	carcinoma	Substitution - Missense
c.1265A>G; p.N422S; 20:37056244-37056244	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1499C>T; p.S500F; 20:37047159-37047159	skin; arm	malignant_melanoma	Substitution - Missense
c.847-1G>C; p.?; 20:37065474-37065474	breast	carcinoma	Unknown
c.355C>T; p.R119C; 20:37068122-37068122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1547C>T; p.P516L; 20:37047111-37047111	skin	malignant_melanoma	Substitution - Missense
c.2502A>G; p.L834L; 20:37022707-37022707	breast	carcinoma	Substitution - coding silent
c.1045G>T; p.A349S; 20:37062122-37062122	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1045G>T; p.A349S; 20:37062122-37062122	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2871+1G>A; p.?; 20:37007410-37007410	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.349G>T; p.E117*; 20:37068128-37068128	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1904-3delT; p.?; 20:37035511-37035511	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.807C>G; p.H269Q; 20:37066763-37066763	breast	carcinoma	Substitution - Missense
c.1711G>A; p.D571N; 20:37044145-37044145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2872-1G>C; p.?; 20:37003867-37003867	stomach	carcinoma; adenocarcinoma	Unknown
c.1711G>A; p.D571N; 20:37044145-37044145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1915T>C; p.L639L; 20:37035497-37035497	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2893C>T; p.P965S; 20:37003845-37003845	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2510A>G; p.D837G; 20:37022699-37022699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2879C>A; p.A960D; 20:37003859-37003859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2847C>A; p.Y949*; 20:37007435-37007435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2987T>G; p.L996R; 20:37003751-37003751	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3136G>T; p.V1046F; 20:36998830-36998830	breast	carcinoma	Substitution - Missense
c.2280T>C; p.G760G; 20:37032767-37032767	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1811A>C; p.N604T; 20:37040245-37040245	liver	carcinoma	Substitution - Missense
c.1811A>C; p.N604T; 20:37040245-37040245	liver	carcinoma	Substitution - Missense
c.3124C>A; p.P1042T; 20:36998842-36998842	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.291-3delT; p.?; 20:37068189-37068189	NS	malignant_melanoma	Unknown
c.751G>T; p.V251L; 20:37066819-37066819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1933C>A; p.H645N; 20:37035479-37035479	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.969A>G; p.G323G; 20:37062198-37062198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2404C>T; p.R802C; 20:37022805-37022805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2194A>C; p.I732L; 20:37032853-37032853	breast	carcinoma	Substitution - Missense
c.1008C>A; p.F336L; 20:37062159-37062159	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3023G>T; p.G1008V; 20:37003715-37003715	skin; neck	malignant_melanoma	Substitution - Missense
c.1439C>G; p.T480R; 20:37055581-37055581	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.275G>T; p.R92L; 20:37089004-37089004	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1365C>T; p.D455D; 20:37055655-37055655	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1869G>A; p.K623K; 20:37040187-37040187	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1167A>G; p.S389S; 20:37061186-37061186	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.598C>T; p.H200Y; 20:37067080-37067080	skin	malignant_melanoma	Substitution - Missense
c.1523T>G; p.I508S; 20:37047135-37047135	breast	carcinoma	Substitution - Missense
c.1704G>C; p.W568C; 20:37044152-37044152	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1704G>A; p.W568*; 20:37044152-37044152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1704G>C; p.W568C; 20:37044152-37044152	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.829A>C; p.K277Q; 20:37066741-37066741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2924C>T; p.S975L; 20:37003814-37003814	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2933G>A; p.R978H; 20:37003805-37003805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1470T>C; p.V490V; 20:37047188-37047188	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116C>T; p.T372T; 20:37061237-37061237	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116C>T; p.T372T; 20:37061237-37061237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2924C>T; p.S975L; 20:37003814-37003814	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2722G>T; p.D908Y; 20:37018279-37018279	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1779C>T; p.F593F; 20:37040277-37040277	skin	malignant_melanoma	Substitution - coding silent
c.2576G>T; p.R859I; 20:37020714-37020714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.449C>T; p.P150L; 20:37068028-37068028	skin	malignant_melanoma	Substitution - Missense
c.1864G>T; p.V622F; 20:37040192-37040192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2753G>C; p.C918S; 20:37007529-37007529	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2093C>T; p.P698L; 20:37035319-37035319	pancreas	carcinoma	Substitution - Missense
c.3125C>T; p.P1042L; 20:36998841-36998841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1113G>A; p.L371L; 20:37061240-37061240	breast	carcinoma	Substitution - coding silent
c.344C>A; p.P115Q; 20:37068133-37068133	skin	malignant_melanoma	Substitution - Missense
c.1209T>G; p.G403G; 20:37061144-37061144	thyroid	other; neoplasm	Substitution - coding silent
c.2407T>C; p.L803L; 20:37022802-37022802	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1808G>C; p.G603A; 20:37040248-37040248	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3037_3038delAG; p.S1013fs*12; 20:36998928-36998929	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2222C>A; p.T741K; 20:37032825-37032825	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.170A>G; p.H57R; 20:37089109-37089109	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2550C>T; p.I850I; 20:37022659-37022659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1865T>C; p.V622A; 20:37040191-37040191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1865T>C; p.V622A; 20:37040191-37040191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2324A>G; p.H775R; 20:37032723-37032723	skin	malignant_melanoma	Substitution - Missense
c.1877G>A; p.R626Q; 20:37040179-37040179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1877G>A; p.R626Q; 20:37040179-37040179	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>T; p.T74M; 20:37089058-37089058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1413A>T; p.I471I; 20:37055607-37055607	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2782G>T; p.G928C; 20:37007500-37007500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.967G>A; p.G323R; 20:37062200-37062200	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.967G>A; p.G323R; 20:37062200-37062200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2044A>C; p.K682Q; 20:37035368-37035368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.346C>T; p.Q116*; 20:37068131-37068131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.364A>G; p.I122V; 20:37068113-37068113	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1012C>T; p.R338C; 20:37062155-37062155	skin	malignant_melanoma	Substitution - Missense
c.3022_3023GG>TT; p.G1008F; 20:37003715-37003716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1471C>T; p.L491F; 20:37047187-37047187	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2639G>T; p.R880I; 20:37018362-37018362	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.492-3delT; p.?; 20:37067300-37067300	stomach	adenocarcinoma	Unknown
c.752T>C; p.V251A; 20:37066818-37066818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2450G>A; p.R817Q; 20:37022759-37022759	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.752T>C; p.V251A; 20:37066818-37066818	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>A; p.G53E; 20:37089121-37089121	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]