Entrez Gene

Basic Information
Gene ID	2346
Name	FOLH1
Synonymous	folate hydrolase (prostate-specific membrane antigen) 1;FOLH1;folate hydrolase (prostate-specific membrane antigen) 1
Definition	N-acetylated alpha-linked acidic dipeptidase 1\|N-acetylated-alpha-linked acidic dipeptidase I\|NAALADase I\|cell growth-inhibiting gene 27 protein\|folylpoly-gamma-glutamate carboxypeptidase\|glutamate carboxylase II\|glutamate carboxypeptidase 2\|glutamate car
Position	11p11.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1377C>G; p.N459K; 11:49164768-49164768	skin	malignant_melanoma	Substitution - Missense
c.1961A>G; p.D654G; 11:49153855-49153855	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1120C>T; p.L374L; 11:49173462-49173462	skin	malignant_melanoma	Substitution - coding silent
c.569G>A; p.R190Q; 11:49186714-49186714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.679C>G; p.L227V; 11:49185816-49185816	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1583T>G; p.L528R; 11:49156757-49156757	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1884A>G; p.S628S; 11:49154232-49154232	breast	carcinoma	Substitution - coding silent
c.1252T>A; p.F418I; 11:49171251-49171251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.68C>A; p.A23D; 11:49208342-49208342	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1766A>G; p.N589S; 11:49154350-49154350	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1970A>C; p.N657T; 11:49153846-49153846	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1443G>A; p.L481L; 11:49158041-49158041	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.119-2A>C; p.?; 11:49206174-49206174	urinary_tract; bladder	carcinoma	Unknown
c.2228C>T; p.A743V; 11:49146781-49146781	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1407G>C; p.L469L; 11:49164738-49164738	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.547G>T; p.E183*; 11:49186736-49186736	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1308G>T; p.E436D; 11:49171195-49171195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.742C>G; p.L248V; 11:49185753-49185753	NS	NS	Substitution - Missense
c.333A>T; p.A111A; 11:49200333-49200333	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.333A>T; p.A111A; 11:49200333-49200333	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1973C>T; p.P658L; 11:49148729-49148729	skin	malignant_melanoma	Substitution - Missense
c.1447A>G; p.S483G; 11:49158037-49158037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1510C>T; p.P504S; 11:49157974-49157974	skin	malignant_melanoma	Substitution - Missense
c.1758G>A; p.E586E; 11:49154358-49154358	pancreas	carcinoma	Substitution - coding silent
c.1193T>C; p.I398T; 11:49173389-49173389	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.623T>C; p.V208A; 11:49186660-49186660	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.404G>A; p.G135E; 11:49200262-49200262	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.320C>T; p.S107F; 11:49200346-49200346	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.184T>G; p.L62V; 11:49206107-49206107	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2040G>T; p.G680G; 11:49148662-49148662	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.889A>G; p.I297V; 11:49183180-49183180	pancreas	carcinoma	Substitution - Missense
c.1110A>T; p.R370S; 11:49173472-49173472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1941T>C; p.S647S; 11:49153875-49153875	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1941T>C; p.S647S; 11:49153875-49153875	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.827-4delT; p.?; 11:49183246-49183246	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2007G>T; p.M669I; 11:49148695-49148695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2104G>A; p.G702R; 11:49146905-49146905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2104G>A; p.G702R; 11:49146905-49146905	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.530T>G; p.V177G; 11:49186753-49186753	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1440G>A; p.E480E; 11:49164705-49164705	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1580G>A; p.R527Q; 11:49156760-49156760	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.542G>A; p.R181Q; 11:49186741-49186741	skin	malignant_melanoma	Substitution - Missense
c.1564G>C; p.E522Q; 11:49156776-49156776	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1161C>T; p.D387D; 11:49173421-49173421	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.82C>T; p.L28L; 11:49208328-49208328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2154A>C; p.K718N; 11:49146855-49146855	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1889-3C>T; p.?; 11:49153930-49153930	pancreas	carcinoma	Unknown
c.1501_1502insA; p.S501fs*20; 11:49157982-49157983	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1248T>A; p.I416I; 11:49171255-49171255	skin	malignant_melanoma	Substitution - coding silent
c.774C>T; p.I258I; 11:49185721-49185721	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1793G>A; p.R598Q; 11:49154323-49154323	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242C>A; p.P81Q; 11:49200424-49200424	ovary	other; neoplasm	Substitution - Missense
c.1527G>A; p.M509I; 11:49157957-49157957	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1019A>G; p.Q340R; 11:49175859-49175859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1807G>T; p.V603F; 11:49154309-49154309	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1274A>T; p.E425V; 11:49171229-49171229	breast	carcinoma	Substitution - Missense
c.1647T>C; p.Y549Y; 11:49154469-49154469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2083A>G; p.S695G; 11:49146926-49146926	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373C>T; p.P125S; 11:49200293-49200293	skin	malignant_melanoma	Substitution - Missense
c.584A>G; p.N195S; 11:49186699-49186699	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2189G>A; p.R730K; 11:49146820-49146820	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1366A>G; p.I456V; 11:49169201-49169201	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.883C>A; p.H295N; 11:49183186-49183186	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2039G>A; p.G680E; 11:49148663-49148663	skin	malignant_melanoma	Substitution - Missense
c.1873T>G; p.Y625D; 11:49154243-49154243	breast	carcinoma	Substitution - Missense
c.1059A>G; p.T353T; 11:49174938-49174938	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1453G>A; p.D485N; 11:49158031-49158031	skin	malignant_melanoma	Substitution - Missense
c.1220A>G; p.K407R; 11:49173362-49173362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.895T>C; p.Y299H; 11:49183174-49183174	skin	malignant_melanoma	Substitution - Missense
c.191A>C; p.E64A; 11:49206100-49206100	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.340G>T; p.D114Y; 11:49200326-49200326	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.630A>T; p.R210S; 11:49186653-49186653	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1860G>A; p.Q620Q; 11:49154256-49154256	skin	malignant_melanoma	Substitution - coding silent
c.2179G>C; p.E727Q; 11:49146830-49146830	skin	malignant_melanoma	Substitution - Missense
c.304G>T; p.E102*; 11:49200362-49200362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.43G>A; p.A15T; 11:49208367-49208367	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1501A>G; p.S501G; 11:49157983-49157983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1090G>A; p.G364R; 11:49174907-49174907	skin	malignant_melanoma	Substitution - Missense
c.462T>A; p.V154V; 11:49192844-49192844	skin	malignant_melanoma	Substitution - coding silent
c.1435A>G; p.K479E; 11:49164710-49164710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1848G>A; p.M616I; 11:49154268-49154268	skin	malignant_melanoma	Substitution - Missense
c.1029G>T; p.K343N; 11:49174968-49174968	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2249C>A; p.A750D; 11:49146760-49146760	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1780C>T; p.P594S; 11:49154336-49154336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2156T>C; p.V719A; 11:49146853-49146853	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1848G>A; p.M616I; 11:49154268-49154268	skin	malignant_melanoma	Substitution - Missense
c.2097G>C; p.K699N; 11:49146912-49146912	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>T; p.F546F; 11:49154478-49154478	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.842G>T; p.R281L; 11:49183227-49183227	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1607G>T; p.R536L; 11:49156733-49156733	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1506T>A; p.P502P; 11:49157978-49157978	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1373G>A; p.G458E; 11:49164772-49164772	skin	malignant_melanoma	Substitution - Missense
c.1064T>C; p.I355T; 11:49174933-49174933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1323C>T; p.L441L; 11:49169244-49169244	breast	carcinoma	Substitution - coding silent
c.1764C>A; p.A588A; 11:49154352-49154352	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.89delG; p.G30fs*14; 11:49208321-49208321	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1312A>G; p.N438D; 11:49169255-49169255	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1786G>A; p.D596N; 11:49154330-49154330	skin	malignant_melanoma	Substitution - Missense
c.653A>C; p.Q218P; 11:49185842-49185842	pancreas	carcinoma	Substitution - Missense
c.1533G>T; p.R511S; 11:49156807-49156807	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.220T>C; p.L74L; 11:49206071-49206071	skin	malignant_melanoma	Substitution - coding silent
c.1871C>A; p.T624K; 11:49154245-49154245	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1553G>A; p.G518E; 11:49156787-49156787	skin	malignant_melanoma	Substitution - Missense
c.915_916CC>AA; p.L305>?; 11:49183153-49183154	lung	carcinoma; adenocarcinoma	Complex
c.1372+1G>A; p.?; 11:49169194-49169194	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1091G>C; p.G364A; 11:49174906-49174906	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1657C>G; p.H553D; 11:49154459-49154459	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1404G>A; p.P468P; 11:49164741-49164741	thyroid	other; neoplasm	Substitution - coding silent
c.841C>T; p.R281C; 11:49183228-49183228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1404G>A; p.P468P; 11:49164741-49164741	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.841C>T; p.R281C; 11:49183228-49183228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1404G>A; p.P468P; 11:49164741-49164741	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.632G>T; p.G211V; 11:49186651-49186651	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1311G>A; p.E437E; 11:49169256-49169256	skin	malignant_melanoma	Substitution - coding silent
c.1441-2A>G; p.?; 11:49158045-49158045	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Unknown
c.1861G>A; p.E621K; 11:49154255-49154255	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1373-1G>A; p.?; 11:49164773-49164773	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1230G>A; p.W410*; 11:49171273-49171273	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.594G>A; p.G198G; 11:49186689-49186689	skin	malignant_melanoma	Substitution - coding silent
c.748G>T; p.G250*; 11:49185747-49185747	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.75G>A; p.A25A; 11:49208335-49208335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.594G>A; p.G198G; 11:49186689-49186689	skin	malignant_melanoma	Substitution - coding silent
c.839G>T; p.R280M; 11:49183230-49183230	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.E495K; 11:49158001-49158001	skin	malignant_melanoma	Substitution - Missense
c.652C>T; p.Q218*; 11:49185843-49185843	skin	malignant_melanoma	Substitution - Nonsense
c.1483G>A; p.E495K; 11:49158001-49158001	skin	malignant_melanoma	Substitution - Missense
c.67G>A; p.A23T; 11:49208343-49208343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.745C>T; p.P249S; 11:49185750-49185750	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2065C>A; p.H689N; 11:49146944-49146944	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2005A>C; p.M669L; 11:49148697-49148697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2061_2062insT; p.R688fs*1; 11:49148640-49148641	liver	carcinoma	Insertion - Frameshift
c.653A>T; p.Q218L; 11:49185842-49185842	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>A; p.M1K; 11:49208408-49208408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>A; p.V358M; 11:49174925-49174925	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1167G>T; p.Q389H; 11:49173415-49173415	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.14_16delTTC; p.L5delL; 11:49208394-49208396	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.14_16delTTC; p.L5delL; 11:49208394-49208396	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1169G>A; p.S390N; 11:49173413-49173413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1311G>T; p.E437D; 11:49169256-49169256	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.514-2A>T; p.?; 11:49186771-49186771	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.632G>A; p.G211E; 11:49186651-49186651	skin	malignant_melanoma	Substitution - Missense
c.1823C>T; p.A608V; 11:49154293-49154293	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.632G>A; p.G211E; 11:49186651-49186651	skin	malignant_melanoma	Substitution - Missense
c.1603G>A; p.A535T; 11:49156737-49156737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2063+1G>C; p.?; 11:49148638-49148638	breast	carcinoma	Unknown
c.1901C>T; p.S634F; 11:49153915-49153915	skin	malignant_melanoma	Substitution - Missense
c.49C>T; p.R17C; 11:49208361-49208361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.119-1G>C; p.?; 11:49206173-49206173	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.289C>G; p.Q97E; 11:49200377-49200377	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49C>T; p.R17C; 11:49208361-49208361	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1927G>T; p.A643S; 11:49153889-49153889	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1910A>G; p.K637R; 11:49153906-49153906	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>T; p.A643S; 11:49153889-49153889	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1333C>T; p.R445C; 11:49169234-49169234	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1623+2T>C; p.?; 11:49156715-49156715	lung	carcinoma; adenocarcinoma	Unknown
c.1601G>T; p.R534I; 11:49156739-49156739	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.842G>A; p.R281H; 11:49183227-49183227	breast	carcinoma	Substitution - Missense
c.842G>A; p.R281H; 11:49183227-49183227	breast	carcinoma	Substitution - Missense
c.842G>A; p.R281H; 11:49183227-49183227	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.384C>A; p.I128I; 11:49200282-49200282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1066T>G; p.Y356D; 11:49174931-49174931	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>A; p.G206R; 11:49186667-49186667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.G256E; 11:49185728-49185728	skin	malignant_melanoma	Substitution - Missense
c.616G>A; p.G206R; 11:49186667-49186667	skin	malignant_melanoma	Substitution - Missense
c.1751T>C; p.V584A; 11:49154365-49154365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.962delG; p.G321fs*32; 11:49175916-49175916	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1659C>A; p.H553Q; 11:49154457-49154457	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.362A>G; p.N121S; 11:49200304-49200304	breast	carcinoma	Substitution - Missense
c.1690A>C; p.K564Q; 11:49154426-49154426	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.831T>C; p.Y277Y; 11:49183238-49183238	breast	carcinoma	Substitution - coding silent
c.831T>C; p.Y277Y; 11:49183238-49183238	breast	carcinoma	Substitution - coding silent
c.170A>C; p.N57T; 11:49206121-49206121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.831T>C; p.Y277Y; 11:49183238-49183238	breast	carcinoma	Substitution - coding silent
c.1801G>A; p.A601T; 11:49154315-49154315	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.497_498CT>AC; p.P166H; 11:49192808-49192809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.732T>C; p.D244D; 11:49185763-49185763	thyroid	other; neoplasm	Substitution - coding silent
c.732T>C; p.D244D; 11:49185763-49185763	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.732T>C; p.D244D; 11:49185763-49185763	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.316G>A; p.D106N; 11:49200350-49200350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1713A>G; p.K571K; 11:49154403-49154403	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2070C>T; p.V690V; 11:49146939-49146939	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.304G>C; p.E102Q; 11:49200362-49200362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.766G>A; p.G256R; 11:49185729-49185729	skin	malignant_melanoma	Substitution - Missense
c.756T>A; p.G252G; 11:49185739-49185739	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.54G>A; p.P18P; 11:49208356-49208356	pancreas	carcinoma	Substitution - coding silent
c.961G>A; p.G321R; 11:49175917-49175917	skin	malignant_melanoma	Substitution - Missense
c.961G>A; p.G321R; 11:49175917-49175917	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1628C>T; p.T543I; 11:49154488-49154488	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2073C>G; p.I691M; 11:49146936-49146936	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1990A>T; p.M664L; 11:49148712-49148712	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.553T>G; p.F185V; 11:49186730-49186730	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.275T>C; p.L92P; 11:49200391-49200391	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.502G>A; p.G168R; 11:49192804-49192804	skin	malignant_melanoma	Substitution - Missense
c.662G>A; p.G221E; 11:49185833-49185833	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1423C>T; p.H475Y; 11:49164722-49164722	central_nervous_system; parietal_lobe	glioma; ependymoma	Substitution - Missense
c.1423C>T; p.H475Y; 11:49164722-49164722	thyroid	other; neoplasm	Substitution - Missense
c.1026C>T; p.V342V; 11:49174971-49174971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.781C>A; p.L261M; 11:49185714-49185714	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1501delA; p.S501fs*12; 11:49157983-49157983	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1501delA; p.S501fs*12; 11:49157983-49157983	stomach	adenocarcinoma	Deletion - Frameshift
c.1501delA; p.S501fs*12; 11:49157983-49157983	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.487G>T; p.A163S; 11:49192819-49192819	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1501delA; p.S501fs*12; 11:49157983-49157983	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1501delA; p.S501fs*12; 11:49157983-49157983	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1501delA; p.S501fs*12; 11:49157983-49157983	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1880T>C; p.V627A; 11:49154236-49154236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1501delA; p.S501fs*12; 11:49157983-49157983	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Deletion - Frameshift
c.1501delA; p.S501fs*12; 11:49157983-49157983	stomach	adenocarcinoma	Deletion - Frameshift
c.223T>C; p.Y75H; 11:49206068-49206068	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.223T>C; p.Y75H; 11:49206068-49206068	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.483C>G; p.F161L; 11:49192823-49192823	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.567A>G; p.E189E; 11:49186716-49186716	skin	malignant_melanoma	Substitution - coding silent
c.1738C>T; p.R580*; 11:49154378-49154378	skin	malignant_melanoma	Substitution - Nonsense
c.1770C>T; p.S590S; 11:49154346-49154346	ovary	other; neoplasm	Substitution - coding silent
c.1738C>T; p.R580*; 11:49154378-49154378	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.904G>T; p.A302S; 11:49183165-49183165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1056G>A; p.V352V; 11:49174941-49174941	skin	malignant_melanoma	Substitution - coding silent
c.172A>G; p.M58V; 11:49206119-49206119	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.433G>T; p.E145*; 11:49192873-49192873	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.751G>T; p.G251C; 11:49185744-49185744	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.670G>A; p.G224R; 11:49185825-49185825	skin	malignant_melanoma	Substitution - Missense
c.1498A>G; p.K500E; 11:49157986-49157986	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.658G>C; p.A220P; 11:49185837-49185837	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1131C>T; p.H377H; 11:49173451-49173451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1579C>T; p.R527*; 11:49156761-49156761	pancreas	carcinoma	Substitution - Nonsense
c.643A>G; p.K215E; 11:49185852-49185852	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1579C>T; p.R527*; 11:49156761-49156761	central_nervous_system; medulla	glioma; astrocytoma_Grade_III	Substitution - Nonsense
c.1579C>T; p.R527*; 11:49156761-49156761	skin	malignant_melanoma	Substitution - Nonsense
c.458A>G; p.N153S; 11:49192848-49192848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1550C>A; p.S517Y; 11:49156790-49156790	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.169A>T; p.N57Y; 11:49206122-49206122	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1100A>G; p.E367G; 11:49174897-49174897	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.863G>A; p.G288D; 11:49183206-49183206	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1618A>C; p.N540H; 11:49156722-49156722	breast	carcinoma	Substitution - Missense
c.807A>G; p.T269T; 11:49185688-49185688	central_nervous_system; brain	glioma	Substitution - coding silent
c.2050A>T; p.R684W; 11:49148652-49148652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1883C>A; p.S628*; 11:49154233-49154233	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.517G>A; p.D173N; 11:49186766-49186766	skin	malignant_melanoma	Substitution - Missense
c.517G>A; p.D173N; 11:49186766-49186766	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.517G>A; p.D173N; 11:49186766-49186766	thyroid	carcinoma	Substitution - Missense
c.498T>A; p.P166P; 11:49192808-49192808	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.237G>T; p.Q79H; 11:49200429-49200429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2120G>A; p.G707E; 11:49146889-49146889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1523G>A; p.G508D; 11:49157961-49157961	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1523G>A; p.G508D; 11:49157961-49157961	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	pancreas	carcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2120G>A; p.G707E; 11:49146889-49146889	skin	malignant_melanoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	NS	NS	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568C>T; p.R190W; 11:49186715-49186715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1309-1G>A; p.?; 11:49169259-49169259	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1558G>A; p.D520N; 11:49156782-49156782	skin	malignant_melanoma	Substitution - Missense
c.384C>G; p.I128M; 11:49200282-49200282	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.133T>G; p.S45A; 11:49206158-49206158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.959G>A; p.R320K; 11:49175919-49175919	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.517G>T; p.D173Y; 11:49186766-49186766	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>A; p.D720N; 11:49146851-49146851	skin	malignant_melanoma	Substitution - Missense
c.2158G>A; p.D720N; 11:49146851-49146851	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]