Entrez Gene

Basic Information
Gene ID	3973
Name	LHCGR
Synonymous	luteinizing hormone/choriogonadotropin receptor;LHCGR;luteinizing hormone/choriogonadotropin receptor
Definition	hypergonadotropic hypogonadism\|lutropin-choriogonadotropic hormone receptor\|lutropin/choriogonadotropin receptor
Position	2p21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1757C>T; p.S586F; 2:48688040-48688040	skin	malignant_melanoma	Substitution - Missense
c.1584A>G; p.I528M; 2:48688213-48688213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1425C>T; p.D475D; 2:48688372-48688372	skin	malignant_melanoma	Substitution - coding silent
c.1744A>G; p.M582V; 2:48688053-48688053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.328A>T; p.N110Y; 2:48725731-48725731	liver	carcinoma	Substitution - Missense
c.1930T>G; p.C644G; 2:48687867-48687867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1730C>T; p.T577I; 2:48688067-48688067	skin	malignant_melanoma	Substitution - Missense
c.460G>A; p.E154K; 2:48723532-48723532	skin	malignant_melanoma	Substitution - Missense
c.460G>A; p.E154K; 2:48723532-48723532	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.656G>A; p.R219H; 2:48708972-48708972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.E154K; 2:48723532-48723532	NS	malignant_melanoma	Substitution - Missense
c.460G>A; p.E154K; 2:48723532-48723532	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1902C>A; p.F634L; 2:48687895-48687895	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.E154K; 2:48723532-48723532	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.656G>A; p.R219H; 2:48708972-48708972	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060G>A; p.E354K; 2:48688737-48688737	skin	malignant_melanoma	Substitution - Missense
c.611T>G; p.L204R; 2:48709017-48709017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.682G>A; p.D228N; 2:48698799-48698799	skin	malignant_melanoma	Substitution - Missense
c.973G>A; p.E325K; 2:48688824-48688824	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 2:48731257-48731257	skin	malignant_melanoma	Substitution - Missense
c.973G>A; p.E325K; 2:48688824-48688824	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 2:48688361-48688361	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 2:48688361-48688361	skin	malignant_melanoma	Substitution - Missense
c.1436G>A; p.R479Q; 2:48688361-48688361	skin	malignant_melanoma	Substitution - Missense
c.405C>G; p.I135M; 2:48723675-48723675	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1542C>T; p.C514C; 2:48688255-48688255	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1082T>G; p.F361C; 2:48688715-48688715	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1100G>C; p.W367S; 2:48688697-48688697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1388A>G; p.E463G; 2:48688409-48688409	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1513G>A; p.V505I; 2:48688284-48688284	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1646T>G; p.I549S; 2:48688151-48688151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1025G>C; p.R342P; 2:48688772-48688772	breast	carcinoma	Substitution - Missense
c.1746G>A; p.M582I; 2:48688051-48688051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1337C>A; p.T446N; 2:48688460-48688460	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1746G>A; p.M582I; 2:48688051-48688051	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1746G>A; p.M582I; 2:48688051-48688051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1584A>T; p.I528I; 2:48688213-48688213	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1766C>T; p.A589V; 2:48688031-48688031	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.771A>C; p.K257N; 2:48698710-48698710	bone; calcaneus	chondrosarcoma	Substitution - Missense
c.1510G>A; p.G504S; 2:48688287-48688287	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.752C>A; p.T251K; 2:48698729-48698729	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1980C>T; p.T660T; 2:48687817-48687817	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.862A>G; p.K288E; 2:48698619-48698619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.515T>A; p.M172K; 2:48723477-48723477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.515T>A; p.M172K; 2:48723477-48723477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>C; p.E187Q; 2:48714032-48714032	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1184G>A; p.R395H; 2:48688613-48688613	pancreas	carcinoma	Substitution - Missense
c.929A>C; p.K310T; 2:48694242-48694242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661G>A; p.R554Q; 2:48688136-48688136	pancreas	carcinoma	Substitution - Missense
c.1747G>A; p.A583T; 2:48688050-48688050	pancreas	carcinoma	Substitution - Missense
c.2029A>C; p.T677P; 2:48687768-48687768	breast	carcinoma	Substitution - Missense
c.1661G>A; p.R554Q; 2:48688136-48688136	skin	malignant_melanoma	Substitution - Missense
c.1747G>A; p.A583T; 2:48688050-48688050	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1864C>A; p.L622M; 2:48687933-48687933	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.804C>T; p.L268L; 2:48698677-48698677	skin	malignant_melanoma	Substitution - coding silent
c.1009T>C; p.L337L; 2:48688788-48688788	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1239G>T; p.L413L; 2:48688558-48688558	liver	carcinoma	Substitution - coding silent
c.1858C>T; p.P620S; 2:48687939-48687939	skin	malignant_melanoma	Substitution - Missense
c.1162C>A; p.R388S; 2:48688635-48688635	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.309-1G>A; p.?; 2:48725751-48725751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.94G>A; p.E32K; 2:48755578-48755578	breast	carcinoma	Substitution - Missense
c.454A>G; p.I152V; 2:48723626-48723626	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1426C>G; p.Q476E; 2:48688371-48688371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.967G>A; p.E323K; 2:48688830-48688830	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1790C>A; p.P597H; 2:48688007-48688007	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.927G>A; p.R309R; 2:48694244-48694244	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.607G>A; p.E203K; 2:48709021-48709021	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1151T>C; p.L384P; 2:48688646-48688646	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.390C>A; p.I130I; 2:48723690-48723690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1847C>T; p.S616F; 2:48687950-48687950	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.732C>T; p.S244S; 2:48698749-48698749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.736C>T; p.Q246*; 2:48698745-48698745	skin; neck	malignant_melanoma	Substitution - Nonsense
c.1847C>T; p.S616F; 2:48687950-48687950	NS	malignant_melanoma	Substitution - Missense
c.1847C>T; p.S616F; 2:48687950-48687950	NS	malignant_melanoma	Substitution - Missense
c.732C>T; p.S244S; 2:48698749-48698749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1890C>T; p.F630F; 2:48687907-48687907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1587A>G; p.L529L; 2:48688210-48688210	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1949T>A; p.L650H; 2:48687848-48687848	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.672G>A; p.P224P; 2:48708956-48708956	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.672G>A; p.P224P; 2:48708956-48708956	skin	malignant_melanoma	Substitution - coding silent
c.774delA; p.K258fs*16; 2:48698707-48698707	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.672G>A; p.P224P; 2:48708956-48708956	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.235G>A; p.E79K; 2:48729226-48729226	skin	malignant_melanoma	Substitution - Missense
c.235G>A; p.E79K; 2:48729226-48729226	skin	malignant_melanoma	Substitution - Missense
c.655C>T; p.R219C; 2:48708973-48708973	skin	malignant_melanoma	Substitution - Missense
c.785G>A; p.R262K; 2:48698696-48698696	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.890C>T; p.S297F; 2:48694281-48694281	skin	malignant_melanoma	Substitution - Missense
c.1988G>C; p.C663S; 2:48687809-48687809	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.512G>A; p.G171E; 2:48723480-48723480	skin	malignant_melanoma	Substitution - Missense
c.490A>G; p.I164V; 2:48723502-48723502	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.364C>A; p.L122I; 2:48725695-48725695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.994G>C; p.E332Q; 2:48688803-48688803	breast	carcinoma	Substitution - Missense
c.2028C>T; p.S676S; 2:48687769-48687769	skin	malignant_melanoma	Substitution - coding silent
c.1523A>T; p.Y508F; 2:48688274-48688274	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1166A>G; p.Y389C; 2:48688631-48688631	liver	carcinoma	Substitution - Missense
c.1213G>A; p.D405N; 2:48688584-48688584	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1698G>A; p.K566K; 2:48688099-48688099	liver	carcinoma	Substitution - coding silent
c.1375G>A; p.V459I; 2:48688422-48688422	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1041A>G; p.P347P; 2:48688756-48688756	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.815C>T; p.T272M; 2:48698666-48698666	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1517G>T; p.S506I; 2:48688280-48688280	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.815C>T; p.T272M; 2:48698666-48698666	pancreas	carcinoma	Substitution - Missense
c.1281T>A; p.Y427*; 2:48688516-48688516	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1096A>G; p.I366V; 2:48688701-48688701	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2074G>T; p.D692Y; 2:48687723-48687723	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1660C>T; p.R554*; 2:48688137-48688137	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1660C>T; p.R554*; 2:48688137-48688137	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1660C>T; p.R554*; 2:48688137-48688137	breast	carcinoma	Substitution - Nonsense
c.1660C>T; p.R554*; 2:48688137-48688137	skin	malignant_melanoma	Substitution - Nonsense
c.1660C>T; p.R554*; 2:48688137-48688137	lung	carcinoma; undifferentiated_carcinoma	Substitution - Nonsense
c.1660C>T; p.R554*; 2:48688137-48688137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1660C>T; p.R554*; 2:48688137-48688137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.263G>A; p.R88K; 2:48729198-48729198	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.R124*; 2:48725689-48725689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1160G>T; p.S387I; 2:48688637-48688637	NS	NS	Substitution - Missense
c.263G>A; p.R88K; 2:48729198-48729198	skin	malignant_melanoma	Substitution - Missense
c.1720C>T; p.L574F; 2:48688077-48688077	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1963G>T; p.D655Y; 2:48687834-48687834	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.371G>A; p.R124Q; 2:48725688-48725688	skin	malignant_melanoma	Substitution - Missense
c.371G>A; p.R124Q; 2:48725688-48725688	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.464T>G; p.I155S; 2:48723528-48723528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1764delT; p.F588fs*14; 2:48688033-48688033	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1465G>A; p.G489R; 2:48688332-48688332	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2027C>T; p.S676F; 2:48687770-48687770	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1439T>C; p.L480S; 2:48688358-48688358	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1764delT; p.F588fs*14; 2:48688033-48688033	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1439T>C; p.L480S; 2:48688358-48688358	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1524C>T; p.Y508Y; 2:48688273-48688273	liver	carcinoma	Substitution - coding silent
c.227T>C; p.I76T; 2:48731233-48731233	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1524C>T; p.Y508Y; 2:48688273-48688273	liver	carcinoma	Substitution - coding silent
c.665C>T; p.T222I; 2:48708963-48708963	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.950A>G; p.Y317C; 2:48688847-48688847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1307G>A; p.G436E; 2:48688490-48688490	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1620C>T; p.F540F; 2:48688177-48688177	skin	malignant_melanoma	Substitution - coding silent
c.496G>A; p.G166R; 2:48723496-48723496	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.622G>A; p.V208I; 2:48709006-48709006	pancreas	carcinoma	Substitution - Missense
c.866+7A>G; p.?; 2:48698608-48698608	liver	carcinoma	Unknown
c.1929C>A; p.C643*; 2:48687868-48687868	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1612G>A; p.A538T; 2:48688185-48688185	ovary	carcinoma	Substitution - Missense
c.1063G>A; p.D355N; 2:48688734-48688734	skin	malignant_melanoma	Substitution - Missense
c.229A>C; p.K77Q; 2:48731231-48731231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1481C>T; p.S494F; 2:48688316-48688316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1150C>A; p.L384I; 2:48688647-48688647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1150C>A; p.L384I; 2:48688647-48688647	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.215T>A; p.L72H; 2:48731245-48731245	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1415T>C; p.I472T; 2:48688382-48688382	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1764_1765insT; p.A589fs*17; 2:48688032-48688033	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1764_1765insT; p.A589fs*17; 2:48688032-48688033	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.732C>A; p.S244S; 2:48698749-48698749	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1845T>A; p.N615K; 2:48687952-48687952	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.712C>T; p.P238S; 2:48698769-48698769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.712C>T; p.P238S; 2:48698769-48698769	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1018A>G; p.T340A; 2:48688779-48688779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1562C>A; p.T521N; 2:48688235-48688235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1895G>C; p.R632T; 2:48687902-48687902	breast	carcinoma	Substitution - Missense
c.2065G>T; p.A689S; 2:48687732-48687732	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.A449T; 2:48688452-48688452	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1345G>A; p.A449T; 2:48688452-48688452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1509C>T; p.V503V; 2:48688288-48688288	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.591G>A; p.T197T; 2:48714000-48714000	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.827C>T; p.P276L; 2:48698654-48698654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2021C>T; p.S674F; 2:48687776-48687776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.866+8G>A; p.?; 2:48698607-48698607	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1906C>A; p.L636I; 2:48687891-48687891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1922T>G; p.F641C; 2:48687875-48687875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1183C>T; p.R395C; 2:48688614-48688614	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.76C>T; p.R26C; 2:48755596-48755596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.733A>G; p.I245V; 2:48698748-48698748	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1991A>C; p.K664T; 2:48687806-48687806	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1441A>G; p.R481G; 2:48688356-48688356	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1712T>C; p.M571T; 2:48688085-48688085	breast	carcinoma	Substitution - Missense
c.1162C>T; p.R388C; 2:48688635-48688635	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425C>T; p.T142M; 2:48723655-48723655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1162C>T; p.R388C; 2:48688635-48688635	skin	malignant_melanoma	Substitution - Missense
c.158G>A; p.R53Q; 2:48755514-48755514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.186A>C; p.K62N; 2:48731274-48731274	breast	carcinoma	Substitution - Missense
c.1436G>T; p.R479L; 2:48688361-48688361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1390A>G; p.R464G; 2:48688407-48688407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>A; p.E206K; 2:48709012-48709012	skin	malignant_melanoma	Substitution - Missense
c.675A>C; p.K225N; 2:48708953-48708953	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>A; p.E206K; 2:48709012-48709012	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.453C>A; p.F151L; 2:48723627-48723627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1300C>A; p.Q434K; 2:48688497-48688497	large_intestine; caecum	adenoma	Substitution - Missense
c.616G>A; p.E206K; 2:48709012-48709012	skin	malignant_melanoma	Substitution - Missense
c.616G>A; p.E206K; 2:48709012-48709012	skin	malignant_melanoma	Substitution - Missense
c.616G>A; p.E206K; 2:48709012-48709012	skin	malignant_melanoma	Substitution - Missense
c.1906C>T; p.L636F; 2:48687891-48687891	skin	malignant_melanoma	Substitution - Missense
c.1669G>T; p.E557*; 2:48688128-48688128	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.639G>A; p.M213I; 2:48708989-48708989	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.855G>A; p.L285L; 2:48698626-48698626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.167T>C; p.L56P; 2:48731293-48731293	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.802C>T; p.L268F; 2:48698679-48698679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1813A>G; p.K605E; 2:48687984-48687984	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1837C>T; p.P613S; 2:48687960-48687960	skin	malignant_melanoma	Substitution - Missense
c.457C>T; p.L153L; 2:48723623-48723623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.457C>T; p.L153L; 2:48723623-48723623	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.292C>T; p.L98F; 2:48729169-48729169	pancreas	carcinoma	Substitution - Missense
c.764C>G; p.S255C; 2:48698717-48698717	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1815A>C; p.K605N; 2:48687982-48687982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.304G>A; p.E102K; 2:48729157-48729157	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1815A>C; p.K605N; 2:48687982-48687982	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1815A>C; p.K605N; 2:48687982-48687982	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1822C>T; p.L608L; 2:48687975-48687975	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.816G>T; p.T272T; 2:48698665-48698665	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.737A>C; p.Q246P; 2:48698744-48698744	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.453C>T; p.F151F; 2:48723627-48723627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1970C>T; p.S657L; 2:48687827-48687827	skin	malignant_melanoma	Substitution - Missense
c.583A>C; p.N195H; 2:48714008-48714008	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2015A>C; p.K672T; 2:48687782-48687782	skin	malignant_melanoma	Substitution - Missense
c.753G>A; p.T251T; 2:48698728-48698728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1565C>T; p.T522I; 2:48688232-48688232	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.194C>T; p.P65L; 2:48731266-48731266	skin	malignant_melanoma	Substitution - Missense
c.813C>T; p.A271A; 2:48698668-48698668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1455G>T; p.L485L; 2:48688342-48688342	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1745T>C; p.M582T; 2:48688052-48688052	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1745T>C; p.M582T; 2:48688052-48688052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.S244F; 2:48698750-48698750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.731C>T; p.S244F; 2:48698750-48698750	skin	malignant_melanoma	Substitution - Missense
c.2082T>G; p.T694T; 2:48687715-48687715	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.426G>A; p.T142T; 2:48723654-48723654	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.590C>T; p.T197M; 2:48714001-48714001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.T197M; 2:48714001-48714001	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1583T>C; p.I528T; 2:48688214-48688214	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1583T>C; p.I528T; 2:48688214-48688214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1482T>C; p.S494S; 2:48688315-48688315	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1584A>C; p.I528I; 2:48688213-48688213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1725C>A; p.I575I; 2:48688072-48688072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1400C>T; p.T467I; 2:48688397-48688397	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1027T>A; p.C343S; 2:48688770-48688770	breast	carcinoma	Substitution - Missense
c.1484C>T; p.S495F; 2:48688313-48688313	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1484C>T; p.S495F; 2:48688313-48688313	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.855G>T; p.L285F; 2:48698626-48698626	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Missense
c.1718T>A; p.I573N; 2:48688079-48688079	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1582A>T; p.I528L; 2:48688215-48688215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1582A>T; p.I528L; 2:48688215-48688215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2050C>A; p.H684N; 2:48687747-48687747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.867-2A>T; p.?; 2:48694306-48694306	skin	malignant_melanoma	Unknown
c.935A>G; p.N312S; 2:48694236-48694236	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.682G>C; p.D228H; 2:48698799-48698799	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.187G>A; p.V63M; 2:48731273-48731273	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1941G>A; p.R647R; 2:48687856-48687856	skin	malignant_melanoma	Substitution - coding silent
c.1612G>T; p.A538S; 2:48688185-48688185	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.178C>A; p.P60T; 2:48731282-48731282	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.715A>G; p.S239G; 2:48698766-48698766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.946C>A; p.L316I; 2:48694225-48694225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.669G>T; p.G223G; 2:48708959-48708959	breast	carcinoma	Substitution - coding silent
c.1939C>T; p.R647W; 2:48687858-48687858	pancreas	carcinoma	Substitution - Missense
c.1690G>T; p.D564Y; 2:48688107-48688107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2071C>T; p.L691L; 2:48687726-48687726	liver	carcinoma	Substitution - coding silent
c.836G>T; p.C279F; 2:48698645-48698645	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1690G>A; p.D564N; 2:48688107-48688107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.695C>A; p.T232N; 2:48698786-48698786	pancreas	carcinoma	Substitution - Missense
c.1690G>A; p.D564N; 2:48688107-48688107	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.574C>A; p.H192N; 2:48714017-48714017	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1299G>T; p.W433C; 2:48688498-48688498	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1030G>C; p.A344P; 2:48688767-48688767	breast	carcinoma	Substitution - Missense
c.1127G>A; p.G376E; 2:48688670-48688670	skin	malignant_melanoma	Substitution - Missense
c.1895G>A; p.R632K; 2:48687902-48687902	skin	malignant_melanoma	Substitution - Missense
c.606-1G>A; p.?; 2:48709023-48709023	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.606G>A; p.L202L; 2:48709022-48709022	skin	malignant_melanoma	Substitution - coding silent
c.1691A>G; p.D564G; 2:48688106-48688106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1691A>G; p.D564G; 2:48688106-48688106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1691A>G; p.D564G; 2:48688106-48688106	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>T; p.K339M; 2:48688781-48688781	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1567C>T; p.L523F; 2:48688230-48688230	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.621C>T; p.N207N; 2:48709007-48709007	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1023C>T; p.P341P; 2:48688774-48688774	breast	carcinoma	Substitution - coding silent
c.83C>T; p.A28V; 2:48755589-48755589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]