Entrez Gene

Basic Information
Gene ID	79577
Name	CDC73
Synonymous	cell division cycle 73;CDC73;cell division cycle 73
Definition	Paf1/RNA polymerase II complex component\|cell division cycle 73, Paf1/RNA polymerase II complex component, homolog\|cell division cycle protein 73 homolog\|hyperparathyroidism 2 protein\|parafibromin
Position	1q25
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1480G>T; p.V494L; 1:193249792-193249792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.14T>C; p.L5P; 1:193122214-193122214	parathyroid	carcinoma	Substitution - Missense
c.14T>C; p.L5P; 1:193122214-193122214	parathyroid	carcinoma	Substitution - Missense
c.228A>G; p.R76R; 1:193125208-193125208	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.465_466CC>TT; p.R156C; 1:193138126-193138127	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.437T>C; p.V146A; 1:193138098-193138098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.228A>G; p.R76R; 1:193125208-193125208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.697A>G; p.T233A; 1:193142034-193142034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.162C>A; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.162C>A; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.229C>T; p.R77C; 1:193125209-193125209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.85delG; p.E29fs*8; 1:193122285-193122285	parathyroid	carcinoma	Deletion - Frameshift
c.85delG; p.E29fs*8; 1:193122285-193122285	parathyroid	carcinoma	Deletion - Frameshift
c.285T>C; p.L95L; 1:193130221-193130221	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.82_85delGGGG; p.G28fs*8; 1:193122282-193122285	parathyroid	carcinoma	Deletion - Frameshift
c.416G>A; p.R139Q; 1:193135582-193135582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416G>A; p.R139Q; 1:193135582-193135582	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.R139Q; 1:193135582-193135582	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.693_694insG; p.R232fs*35; 1:193142030-193142031	parathyroid	carcinoma	Insertion - Frameshift
c.272G>A; p.R91Q; 1:193130208-193130208	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	breast	carcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.929A>T; p.D310V; 1:193152401-193152401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.95_102delGGCCCAAG; p.W32fs*1; 1:193122295-193122302	parathyroid	adenoma	Deletion - Frameshift
c.272G>A; p.R91Q; 1:193130208-193130208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91Q; 1:193130208-193130208	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.144A>G; p.E48E; 1:193125124-193125124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.316G>T; p.A106S; 1:193135399-193135399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1352C>T; p.A451V; 1:193236291-193236291	breast	carcinoma	Substitution - Missense
c.1171G>A; p.E391K; 1:193233009-193233009	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>A; p.E391K; 1:193233009-193233009	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.709A>G; p.I237V; 1:193142046-193142046	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.904G>T; p.E302*; 1:193150379-193150379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.904G>T; p.E302*; 1:193150379-193150379	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.921C>G; p.F307L; 1:193152393-193152393	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.533C>G; p.S178*; 1:193141870-193141870	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.533C>G; p.S178*; 1:193141870-193141870	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.284T>C; p.L95P; 1:193130220-193130220	parathyroid	carcinoma	Substitution - Missense
c.284T>C; p.L95P; 1:193130220-193130220	parathyroid	adenoma	Substitution - Missense
c.547G>C; p.A183P; 1:193141884-193141884	pancreas	carcinoma	Substitution - Missense
c.907G>C; p.E303Q; 1:193150382-193150382	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.142G>T; p.E48*; 1:193125122-193125122	parathyroid	adenoma-hyperplasia_NS	Substitution - Nonsense
c.194_195insT; p.N66fs*1; 1:193125174-193125175	parathyroid	carcinoma	Insertion - Frameshift
c.1034C>A; p.S345Y; 1:193212068-193212068	breast	carcinoma	Substitution - Missense
c.23_26TGCG>GTG; p.L8fs*13; 1:193122223-193122226	parathyroid	carcinoma	Complex - frameshift
c.1117A>G; p.T373A; 1:193212440-193212440	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.23_26TGCG>GTG; p.L8fs*13; 1:193122223-193122226	parathyroid	carcinoma	Complex - frameshift
c.265C>G; p.P89A; 1:193130201-193130201	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1491A>T; p.L497F; 1:193249803-193249803	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.686_689delGAGT; p.R229fs*27; 1:193142023-193142026	parathyroid	carcinoma	Deletion - Frameshift
c.433T>C; p.C145R; 1:193138094-193138094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126_131delTTGGGG; p.?; 1:193122326-193122349	parathyroid	adenoma	Unknown
c.195_196insT; p.N66fs*1; 1:193125175-193125176	parathyroid	carcinoma	Insertion - Frameshift
c.70_70delG; p.E24fs*2; 1:193122270-193122270	parathyroid	carcinoma	Deletion - Frameshift
c.70_70delG; p.E24fs*2; 1:193122270-193122270	bone; mandible	cemento-ossifying_fibroma	Deletion - Frameshift
c.1368T>C; p.G456G; 1:193236307-193236307	skin	malignant_melanoma	Substitution - coding silent
c.245A>G; p.N82S; 1:193130181-193130181	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1361T>G; p.F454C; 1:193236300-193236300	liver	carcinoma	Substitution - Missense
c.1361T>G; p.F454C; 1:193236300-193236300	liver	carcinoma	Substitution - Missense
c.13_30del18; p.L5_Q10del; 1:193122213-193122230	parathyroid	carcinoma	Deletion - In frame
c.700C>T; p.R234*; 1:193142037-193142037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.700C>T; p.R234*; 1:193142037-193142037	parathyroid	carcinoma	Substitution - Nonsense
c.259A>T; p.R87*; 1:193130195-193130195	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.132-1G>T; p.?; 1:193125111-193125111	lung	carcinoma; adenocarcinoma	Unknown
c.1137C>T; p.D379D; 1:193212460-193212460	skin	malignant_melanoma	Substitution - coding silent
c.787C>T; p.R263C; 1:193147924-193147924	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.128G>A; p.W43*; 1:193122328-193122328	parathyroid	adenoma	Substitution - Nonsense
c.128G>A; p.W43*; 1:193122328-193122328	parathyroid	carcinoma	Substitution - Nonsense
c.787C>T; p.R263C; 1:193147924-193147924	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.128G>A; p.W43*; 1:193122328-193122328	parathyroid	carcinoma	Substitution - Nonsense
c.829-2A>T; p.?; 1:193150302-193150302	lung	carcinoma; adenocarcinoma	Unknown
c.70_73delGAAG; p.E24fs*1; 1:193122270-193122273	parathyroid	adenoma	Deletion - Frameshift
c.33_34insCT; p.N12fs*10; 1:193122233-193122234	parathyroid	carcinoma	Insertion - Frameshift
c.53delT; p.I18fs*3; 1:193122253-193122253	parathyroid	adenoma	Deletion - Frameshift
c.305C>T; p.A102V; 1:193130241-193130241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.16delA; p.S6fs*15; 1:193122216-193122216	parathyroid	carcinoma	Deletion - Frameshift
c.306G>A; p.A102A; 1:193130242-193130242	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.227G>A; p.R76Q; 1:193125207-193125207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.197_198insA; p.N66fs*16; 1:193125177-193125178	parathyroid	carcinoma	Insertion - Frameshift
c.1183C>T; p.Q395*; 1:193233021-193233021	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.581G>T; p.R194I; 1:193141918-193141918	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.581G>T; p.R194I; 1:193141918-193141918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1559G>A; p.R520K; 1:193249871-193249871	stomach	adenocarcinoma	Substitution - Missense
c.266C>G; p.P89R; 1:193130202-193130202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.194_195insA; p.N65fs*2; 1:193125174-193125175	parathyroid	carcinoma	Insertion - Frameshift
c.164A>T; p.Y55F; 1:193125144-193125144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.164A>G; p.Y55C; 1:193125144-193125144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.164A>G; p.Y55C; 1:193125144-193125144	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.320G>T; p.S107I; 1:193135403-193135403	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.70G>T; p.E24*; 1:193122270-193122270	parathyroid	carcinoma	Substitution - Nonsense
c.70G>T; p.E24*; 1:193122270-193122270	parathyroid	carcinoma	Substitution - Nonsense
c.248_248delT; p.P84fs*25; 1:193130184-193130184	parathyroid	carcinoma	Deletion - Frameshift
c.61_64delAAGG; p.K21fs*4; 1:193122261-193122264	parathyroid	carcinoma	Deletion - Frameshift
c.27A>G; p.R9R; 1:193122227-193122227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.745_746insT; p.A251fs*16; 1:193147882-193147883	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1325T>G; p.V442G; 1:193236264-193236264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.76delA; p.I26fs*11; 1:193122276-193122276	parathyroid	carcinoma	Deletion - Frameshift
c.181T>C; p.L61L; 1:193125161-193125161	thyroid	other; neoplasm	Substitution - coding silent
c.832C>T; p.P278S; 1:193150307-193150307	skin	malignant_melanoma	Substitution - Missense
c.1492G>T; p.E498*; 1:193249804-193249804	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.34_37delAACA; p.N12fs*8; 1:193122234-193122237	parathyroid	carcinoma	Deletion - Frameshift
c.1366G>T; p.G456C; 1:193236305-193236305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1192C>T; p.Q398*; 1:193233030-193233030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.550G>C; p.A184P; 1:193141887-193141887	central_nervous_system; brain	glioma	Substitution - Missense
c.1245_1262del18; p.G416_V421del; 1:193233083-193233100	bone; mandible	cemento-ossifying_fibroma	Deletion - In frame
c.39delC; p.Q14fs*7; 1:193122239-193122239	parathyroid	carcinoma	Deletion - Frameshift
c.1214T>C; p.I405T; 1:193233052-193233052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.V67M; 1:193125179-193125179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.947A>T; p.H316L; 1:193152419-193152419	breast	carcinoma	Substitution - Missense
c.1450C>T; p.R484C; 1:193249762-193249762	skin	malignant_melanoma	Substitution - Missense
c.179T>A; p.I60N; 1:193125159-193125159	bone; mandible	cemento-ossifying_fibroma	Substitution - Missense
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1521T>C; p.D507D; 1:193249833-193249833	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.182T>A; p.L61*; 1:193125162-193125162	parathyroid	carcinoma	Substitution - Nonsense
c.160T>C; p.Y54H; 1:193125140-193125140	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.512G>A; p.R171K; 1:193138173-193138173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.929A>G; p.D310G; 1:193152401-193152401	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.467G>A; p.R156H; 1:193138128-193138128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219T>C; p.V73V; 1:193125199-193125199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.732delT; p.S246fs*11; 1:193147869-193147869	parathyroid	carcinoma	Deletion - Frameshift
c.165C>T; p.Y55Y; 1:193125145-193125145	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	adenoma	Substitution - Nonsense
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.162C>G; p.Y54*; 1:193125142-193125142	parathyroid	carcinoma	Substitution - Nonsense
c.1106C>A; p.T369N; 1:193212429-193212429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.730-1G>T; p.?; 1:193147866-193147866	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1106C>A; p.T369N; 1:193212429-193212429	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.26G>T; p.R9L; 1:193122226-193122226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.60_69del10; p.G22fs*1; 1:193122260-193122269	parathyroid	carcinoma	Deletion - Frameshift
c.1538G>A; p.R513Q; 1:193249850-193249850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.911C>A; p.T304K; 1:193152383-193152383	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.513-1delG; p.?; 1:193141849-193141849	parathyroid	carcinoma	Unknown
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.25C>T; p.R9*; 1:193122225-193122225	parathyroid	carcinoma	Substitution - Nonsense
c.678_679insAG; p.V230fs*28; 1:193142015-193142016	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.334G>A; p.A112T; 1:193135417-193135417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1429C>T; p.H477Y; 1:193249741-193249741	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.702A>G; p.R234R; 1:193142039-193142039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1073G>A; p.R358Q; 1:193212396-193212396	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1073G>A; p.R358Q; 1:193212396-193212396	breast	carcinoma	Substitution - Missense
c.439C>T; p.R147C; 1:193138100-193138100	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.439C>T; p.R147C; 1:193138100-193138100	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.9C>A; p.D3E; 1:193122209-193122209	ovary	other; neoplasm	Substitution - Missense
c.439C>T; p.R147C; 1:193138100-193138100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.841C>T; p.R281C; 1:193150316-193150316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1323C>T; p.R441R; 1:193236262-193236262	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.985G>T; p.A329S; 1:193203807-193203807	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.614T>C; p.I205T; 1:193141951-193141951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.788G>A; p.R263H; 1:193147925-193147925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.165C>A; p.Y55*; 1:193125145-193125145	parathyroid	carcinoma	Substitution - Nonsense
c.1353A>G; p.A451A; 1:193236292-193236292	pancreas	carcinoma	Substitution - coding silent
c.1353A>G; p.A451A; 1:193236292-193236292	pancreas	carcinoma	Substitution - coding silent
c.690A>G; p.V230V; 1:193142027-193142027	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1554G>A; p.L518L; 1:193249866-193249866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.512G>T; p.R171M; 1:193138173-193138173	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.366_367TC>CT; p.T122>?; 1:193135449-193135450	lung	carcinoma; adenocarcinoma	Complex
c.340T>G; p.L114V; 1:193135423-193135423	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.717A>T; p.Q239H; 1:193142054-193142054	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.383C>T; p.A128V; 1:193135549-193135549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4G>T; p.A2S; 1:193122204-193122204	parathyroid	adenoma	Substitution - Missense
c.226C>T; p.R76*; 1:193125206-193125206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.226C>T; p.R76*; 1:193125206-193125206	parathyroid	carcinoma	Substitution - Nonsense
c.619G>T; p.A207S; 1:193141956-193141956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1333G>A; p.V445I; 1:193236272-193236272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1333G>A; p.V445I; 1:193236272-193236272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1286A>T; p.D429V; 1:193233124-193233124	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1587G>T; p.L529F; 1:193250703-193250703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.563A>C; p.K188T; 1:193141900-193141900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.Q210*; 1:193141965-193141965	skin; mucosal	malignant_melanoma	Substitution - Nonsense
c.64G>T; p.G22*; 1:193122264-193122264	parathyroid	carcinoma	Substitution - Nonsense
c.143A>G; p.E48G; 1:193125123-193125123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.143A>G; p.E48G; 1:193125123-193125123	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.165delC; p.Y55fs*1; 1:193125145-193125145	parathyroid	carcinoma	Deletion - Frameshift
c.1031-1G>A; p.?; 1:193212064-193212064	skin; trunk	malignant_melanoma	Unknown
c.165delC; p.Y55fs*1; 1:193125145-193125145	parathyroid	carcinoma	Deletion - Frameshift
c.554T>C; p.I185T; 1:193141891-193141891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>T; p.K524N; 1:193250688-193250688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>T; p.K524N; 1:193250688-193250688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>T; p.K524N; 1:193250688-193250688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.351T>C; p.G117G; 1:193135434-193135434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.729G>T; p.K243N; 1:193142066-193142066	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.746delT; p.F250fs*7; 1:193147883-193147883	parathyroid	carcinoma	Deletion - Frameshift
c.98C>A; p.P33H; 1:193122298-193122298	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.929A>C; p.D310A; 1:193152401-193152401	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.729+2T>C; p.?; 1:193142068-193142068	kidney	other; neoplasm	Unknown
c.131+1G>A; p.?; 1:193122332-193122332	parathyroid	adenoma	Unknown
c.1155-1G>T; p.?; 1:193232992-193232992	lung	carcinoma; adenocarcinoma	Unknown
c.32_32delA; p.Y11fs*10; 1:193122232-193122232	parathyroid	adenoma	Deletion - Frameshift
c.990G>T; p.R330R; 1:193203812-193203812	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.230G>C; p.R77P; 1:193125210-193125210	parathyroid	adenoma	Substitution - Missense
c.931A>G; p.T311A; 1:193152403-193152403	urinary_tract; bladder	carcinoma	Substitution - Missense
c.773C>T; p.A258V; 1:193147910-193147910	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.883C>G; p.Q295E; 1:193150358-193150358	pancreas	NS	Substitution - Missense
c.72_90del19; p.E24fs*7; 1:193122272-193122290	parathyroid	adenoma	Deletion - Frameshift
c.991A>G; p.K331E; 1:193203813-193203813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1451G>T; p.R484L; 1:193249763-193249763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266C>T; p.P89L; 1:193130202-193130202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1230delC; p.Q411fs*17; 1:193233068-193233068	parathyroid	carcinoma	Deletion - Frameshift
c.282A>T; p.L94L; 1:193130218-193130218	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.277G>T; p.D93Y; 1:193130213-193130213	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.277G>T; p.D93Y; 1:193130213-193130213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.760C>T; p.Q254*; 1:193147897-193147897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.102G>T; p.K34N; 1:193122302-193122302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1556A>G; p.D519G; 1:193249868-193249868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412C>T; p.A471V; 1:193236351-193236351	breast	carcinoma	Substitution - Missense
c.1174A>C; p.K392Q; 1:193233012-193233012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.60_60delG; p.K21fs*5; 1:193122260-193122260	parathyroid	carcinoma	Deletion - Frameshift
c.1247G>A; p.G416D; 1:193233085-193233085	breast	carcinoma	Substitution - Missense
c.564A>C; p.K188N; 1:193141901-193141901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.214C>T; p.P72S; 1:193125194-193125194	parathyroid	adenoma	Substitution - Missense
c.859_860CC>TT; p.P287L; 1:193150334-193150335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.358C>T; p.R120*; 1:193135441-193135441	skin	malignant_melanoma	Substitution - Nonsense
c.358C>T; p.R120*; 1:193135441-193135441	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.889A>G; p.R297G; 1:193150364-193150364	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.717A>C; p.Q239H; 1:193142054-193142054	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.73G>C; p.V25L; 1:193122273-193122273	bone; femur	chondrosarcoma	Substitution - Missense
c.185T>A; p.F62Y; 1:193125165-193125165	thyroid	other; neoplasm	Substitution - Missense
c.1324G>T; p.V442F; 1:193236263-193236263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1581G>A; p.S527S; 1:193250697-193250697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.879C>A; p.Y293*; 1:193150354-193150354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]