Entrez Gene

Basic Information
Gene ID	1830
Name	DSG3
Synonymous	desmoglein 3;DSG3;desmoglein 3
Definition	130 kDa pemphigus vulgaris antigen\|130-kD pemphigus vulgaris antigen\|cadherin family member 6\|desmoglein-3\|pemphigus vulgaris antigen
Position	18q12.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.2875G>T; p.V959L; 18:31476135-31476135	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.362C>A; p.P121Q; 18:31458590-31458590	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1203G>C; p.L401F; 18:31464314-31464314	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.66T>C; p.H22H; 18:31456457-31456457	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1453G>C; p.V485L; 18:31466571-31466571	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1150C>T; p.R384C; 18:31464261-31464261	breast	carcinoma	Substitution - Missense
c.1691_1692delTC; p.S565fs*12; 18:31469143-31469144	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.2402C>T; p.A801V; 18:31475662-31475662	breast	carcinoma	Substitution - Missense
c.832G>T; p.E278*; 18:31461245-31461245	breast	carcinoma	Substitution - Nonsense
c.2461G>T; p.A821S; 18:31475721-31475721	breast	carcinoma	Substitution - Missense
c.2339C>T; p.A780V; 18:31474358-31474358	breast	carcinoma	Substitution - Missense
c.2383C>T; p.Q795*; 18:31474402-31474402	breast	carcinoma	Substitution - Nonsense
c.2464G>A; p.D822N; 18:31475724-31475724	breast	carcinoma	Substitution - Missense
c.88A>C; p.K30Q; 18:31456996-31456996	breast	carcinoma	Substitution - Missense
c.1491C>T; p.L497L; 18:31466609-31466609	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.276C>A; p.I92I; 18:31458504-31458504	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.276C>A; p.I92I; 18:31458504-31458504	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1601A>G; p.K534R; 18:31466719-31466719	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.346G>A; p.D116N; 18:31458574-31458574	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1898-1G>A; p.?; 18:31472283-31472283	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Unknown
c.1813G>C; p.G605R; 18:31469265-31469265	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2461G>A; p.A821T; 18:31475721-31475721	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1417A>T; p.T473S; 18:31466535-31466535	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.286C>A; p.P96T; 18:31458514-31458514	central_nervous_system; brain	glioma	Substitution - Missense
c.2295C>A; p.T765T; 18:31474314-31474314	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1891C>T; p.L631L; 18:31469343-31469343	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2459G>A; p.G820D; 18:31475719-31475719	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2123C>T; p.A708V; 18:31474142-31474142	central_nervous_system; brain	glioma	Substitution - Missense
c.2939C>T; p.T980M; 18:31476199-31476199	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2939C>T; p.T980M; 18:31476199-31476199	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2594G>T; p.G865V; 18:31475854-31475854	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2135C>T; p.A712V; 18:31474154-31474154	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.431C>T; p.T144M; 18:31459091-31459091	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2008G>A; p.G670R; 18:31472394-31472394	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2008G>A; p.G670R; 18:31472394-31472394	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.752G>A; p.C251Y; 18:31460900-31460900	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2000A>G; p.H667R; 18:31472386-31472386	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1952T>A; p.V651E; 18:31472338-31472338	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1548G>A; p.L516L; 18:31466666-31466666	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1716G>C; p.Q572H; 18:31469168-31469168	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2381C>T; p.S794F; 18:31474400-31474400	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2947C>T; p.R983*; 18:31476207-31476207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.547G>T; p.D183Y; 18:31459874-31459874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2830G>A; p.V944M; 18:31476090-31476090	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1237G>A; p.D413N; 18:31464348-31464348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.898A>G; p.N300D; 18:31461311-31461311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.824G>A; p.R275H; 18:31461237-31461237	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.257G>A; p.R86Q; 18:31458485-31458485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2136G>A; p.A712A; 18:31474155-31474155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1290C>T; p.N430N; 18:31465336-31465336	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.145C>T; p.R49C; 18:31457053-31457053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2461G>A; p.A821T; 18:31475721-31475721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.860G>A; p.R287Q; 18:31461273-31461273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1030A>T; p.K344*; 18:31464141-31464141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.834A>C; p.E278D; 18:31461247-31461247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.832G>T; p.E278*; 18:31461245-31461245	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.68G>A; p.G23E; 18:31456459-31456459	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2507T>G; p.F836C; 18:31475767-31475767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1181A>G; p.K394R; 18:31464292-31464292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2805G>T; p.E935D; 18:31476065-31476065	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1643C>T; p.S548L; 18:31469095-31469095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2508T>C; p.F836F; 18:31475768-31475768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.859C>T; p.R287*; 18:31461272-31461272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.859C>T; p.R287*; 18:31461272-31461272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2805G>A; p.E935E; 18:31476065-31476065	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2413G>A; p.D805N; 18:31475673-31475673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2206G>T; p.G736C; 18:31474225-31474225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2909C>A; p.S970Y; 18:31476169-31476169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2342A>G; p.D781G; 18:31474361-31474361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2647T>C; p.S883P; 18:31475907-31475907	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.656G>T; p.R219L; 18:31459983-31459983	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1579G>A; p.A527T; 18:31466697-31466697	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1579G>A; p.A527T; 18:31466697-31466697	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.713G>T; p.S238I; 18:31460861-31460861	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.709G>C; p.V237L; 18:31460857-31460857	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1412-2A>G; p.?; 18:31466528-31466528	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1531G>T; p.V511F; 18:31466649-31466649	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.262T>G; p.S88A; 18:31458490-31458490	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.201A>T; p.R67S; 18:31457109-31457109	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2008G>A; p.G670R; 18:31472394-31472394	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2621C>A; p.S874Y; 18:31475881-31475881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2300G>C; p.R767T; 18:31474319-31474319	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1459G>A; p.D487N; 18:31466577-31466577	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.779T>G; p.V260G; 18:31460927-31460927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2989C>T; p.R997C; 18:31476249-31476249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2814G>A; p.S938S; 18:31476074-31476074	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2412C>T; p.D804D; 18:31475672-31475672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.860G>A; p.R287Q; 18:31461273-31461273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.860G>A; p.R287Q; 18:31461273-31461273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1300T>C; p.Y434H; 18:31465346-31465346	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1492G>A; p.E498K; 18:31466610-31466610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1021C>A; p.Q341K; 18:31464132-31464132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1492G>A; p.E498K; 18:31466610-31466610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1833G>A; p.P611P; 18:31469285-31469285	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2762C>A; p.S921Y; 18:31476022-31476022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1263delA; p.N422fs*14; 18:31464374-31464374	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.200G>T; p.R67I; 18:31457108-31457108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1357G>T; p.D453Y; 18:31465403-31465403	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1612G>A; p.V538I; 18:31466730-31466730	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1612G>A; p.V538I; 18:31466730-31466730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1062A>T; p.E354D; 18:31464173-31464173	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.775G>T; p.D259Y; 18:31460923-31460923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2022C>A; p.A674A; 18:31472408-31472408	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1365T>G; p.T455T; 18:31465411-31465411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1214T>G; p.I405S; 18:31464325-31464325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1103delC; p.P369fs*6; 18:31464214-31464214	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2748C>T; p.V916V; 18:31476008-31476008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135G>T; p.E379*; 18:31464246-31464246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.859C>T; p.R287*; 18:31461272-31461272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1317delA; p.T441fs*10; 18:31465363-31465363	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1085G>A; p.R362Q; 18:31464196-31464196	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1199A>C; p.K400T; 18:31464310-31464310	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2622T>A; p.S874S; 18:31475882-31475882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.710T>C; p.V237A; 18:31460858-31460858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.583G>A; p.A195T; 18:31459910-31459910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1286G>A; p.R429H; 18:31465332-31465332	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.241C>A; p.Q81K; 18:31458469-31458469	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2620T>C; p.S874P; 18:31475880-31475880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.164C>T; p.A55V; 18:31457072-31457072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2353A>C; p.S785R; 18:31474372-31474372	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2684T>G; p.F895C; 18:31475944-31475944	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1266T>A; p.N422K; 18:31464377-31464377	liver	carcinoma	Substitution - Missense
c.1266T>A; p.N422K; 18:31464377-31464377	liver	carcinoma	Substitution - Missense
c.1178A>C; p.Q393P; 18:31464289-31464289	liver	carcinoma	Substitution - Missense
c.1178A>C; p.Q393P; 18:31464289-31464289	liver	carcinoma	Substitution - Missense
c.1434A>C; p.T478T; 18:31466552-31466552	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.590A>G; p.K197R; 18:31459917-31459917	liver	carcinoma	Substitution - Missense
c.590A>G; p.K197R; 18:31459917-31459917	liver	carcinoma	Substitution - Missense
c.226G>T; p.D76Y; 18:31458454-31458454	liver	carcinoma	Substitution - Missense
c.1537G>A; p.A513T; 18:31466655-31466655	liver	carcinoma	Substitution - Missense
c.1779C>T; p.G593G; 18:31469231-31469231	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.382C>G; p.R128G; 18:31459042-31459042	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.693C>A; p.S231R; 18:31460841-31460841	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.973A>G; p.N325D; 18:31461386-31461386	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1051A>G; p.N351D; 18:31464162-31464162	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1595C>T; p.P532L; 18:31466713-31466713	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1478C>A; p.P493Q; 18:31466596-31466596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.659C>A; p.T220N; 18:31459986-31459986	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1773C>T; p.N591N; 18:31469225-31469225	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.647G>T; p.G216V; 18:31459974-31459974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2298G>T; p.M766I; 18:31474317-31474317	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2814G>T; p.S938S; 18:31476074-31476074	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2426C>A; p.A809E; 18:31475686-31475686	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2592T>A; p.D864E; 18:31475852-31475852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1911G>C; p.L637L; 18:31472297-31472297	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1370T>G; p.I457R; 18:31465416-31465416	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1355G>A; p.R452Q; 18:31465401-31465401	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2922C>A; p.G974G; 18:31476182-31476182	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1457C>A; p.P486H; 18:31466575-31466575	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2237C>T; p.A746V; 18:31474256-31474256	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2128G>T; p.G710C; 18:31474147-31474147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2192C>A; p.S731Y; 18:31474211-31474211	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.991G>A; p.V331M; 18:31461404-31461404	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>T; p.E555*; 18:31469115-31469115	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.132A>G; p.K44K; 18:31457040-31457040	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.949G>A; p.E317K; 18:31461362-31461362	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.R362*; 18:31464195-31464195	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.902G>T; p.W301L; 18:31461315-31461315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.17C>A; p.P6H; 18:31447894-31447894	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1949G>T; p.G650V; 18:31472335-31472335	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1949G>T; p.G650V; 18:31472335-31472335	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1613T>G; p.V538G; 18:31466731-31466731	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1970C>A; p.P657Q; 18:31472356-31472356	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2787T>C; p.G929G; 18:31476047-31476047	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1029G>T; p.V343V; 18:31464140-31464140	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2801C>G; p.T934R; 18:31476061-31476061	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2320G>T; p.G774*; 18:31474339-31474339	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2467G>T; p.A823S; 18:31475727-31475727	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1643C>G; p.S548W; 18:31469095-31469095	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2705C>T; p.S902L; 18:31475965-31475965	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.628C>T; p.L210F; 18:31459955-31459955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.361C>A; p.P121T; 18:31458589-31458589	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.156G>A; p.V52V; 18:31457064-31457064	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2484G>T; p.V828V; 18:31475744-31475744	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2382T>A; p.S794S; 18:31474401-31474401	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.377C>A; p.T126K; 18:31459037-31459037	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.818_819CA>AG; p.S273*; 18:31461231-31461232	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1286G>A; p.R429H; 18:31465332-31465332	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1083T>A; p.S361S; 18:31464194-31464194	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.116C>A; p.T39N; 18:31457024-31457024	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2693G>T; p.C898F; 18:31475953-31475953	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2849G>C; p.G950A; 18:31476109-31476109	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.45C>A; p.F15L; 18:31447922-31447922	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2990G>A; p.R997H; 18:31476250-31476250	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2749C>T; p.Q917*; 18:31476009-31476009	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2022C>T; p.A674A; 18:31472408-31472408	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.483T>A; p.I161I; 18:31459143-31459143	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2621C>A; p.S874Y; 18:31475881-31475881	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2126G>T; p.R709I; 18:31474145-31474145	ovary	other; neoplasm	Substitution - Missense
c.1898-1G>C; p.?; 18:31472283-31472283	ovary	carcinoma; serous_carcinoma	Unknown
c.2692T>G; p.C898G; 18:31475952-31475952	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1536C>T; p.S512S; 18:31466654-31466654	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.425T>C; p.I142T; 18:31459085-31459085	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.12C>A; p.L4L; 18:31447889-31447889	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1537G>A; p.A513T; 18:31466655-31466655	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4A>T; p.M2L; 18:31447881-31447881	pancreas	carcinoma	Substitution - Missense
c.2403G>A; p.A801A; 18:31475663-31475663	pancreas	carcinoma	Substitution - coding silent
c.2403G>A; p.A801A; 18:31475663-31475663	pancreas	carcinoma	Substitution - coding silent
c.52G>A; p.V18I; 18:31456443-31456443	pancreas	carcinoma	Substitution - Missense
c.2053T>C; p.C685R; 18:31472740-31472740	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.644C>T; p.T215I; 18:31459971-31459971	prostate	carcinoma	Substitution - Missense
c.1167A>C; p.T389T; 18:31464278-31464278	prostate	adenoma	Substitution - coding silent
c.874G>A; p.D292N; 18:31461287-31461287	skin	malignant_melanoma	Substitution - Missense
c.547G>A; p.D183N; 18:31459874-31459874	skin	malignant_melanoma	Substitution - Missense
c.1251C>A; p.N417K; 18:31464362-31464362	skin	malignant_melanoma	Substitution - Missense
c.2708G>A; p.G903E; 18:31475968-31475968	skin	malignant_melanoma	Substitution - Missense
c.627C>T; p.F209F; 18:31459954-31459954	skin	malignant_melanoma	Substitution - coding silent
c.277G>A; p.D93N; 18:31458505-31458505	skin	malignant_melanoma	Substitution - Missense
c.277G>A; p.D93N; 18:31458505-31458505	skin	malignant_melanoma	Substitution - Missense
c.277G>A; p.D93N; 18:31458505-31458505	skin	malignant_melanoma	Substitution - Missense
c.277G>A; p.D93N; 18:31458505-31458505	skin	malignant_melanoma	Substitution - Missense
c.2902C>T; p.P968S; 18:31476162-31476162	skin	malignant_melanoma	Substitution - Missense
c.2891G>A; p.R964K; 18:31476151-31476151	skin	malignant_melanoma	Substitution - Missense
c.17C>T; p.P6L; 18:31447894-31447894	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1675C>T; p.P559S; 18:31469127-31469127	skin	malignant_melanoma	Substitution - Missense
c.961G>A; p.D321N; 18:31461374-31461374	skin	malignant_melanoma	Substitution - Missense
c.1675C>T; p.P559S; 18:31469127-31469127	skin	malignant_melanoma	Substitution - Missense
c.961G>A; p.D321N; 18:31461374-31461374	skin	malignant_melanoma	Substitution - Missense
c.355G>A; p.E119K; 18:31458583-31458583	skin	malignant_melanoma	Substitution - Missense
c.1663G>A; p.E555K; 18:31469115-31469115	skin	malignant_melanoma	Substitution - Missense
c.1623C>T; p.I541I; 18:31466741-31466741	skin	malignant_melanoma	Substitution - coding silent
c.1663G>A; p.E555K; 18:31469115-31469115	skin	malignant_melanoma	Substitution - Missense
c.829G>A; p.E277K; 18:31461242-31461242	skin	malignant_melanoma	Substitution - Missense
c.2959A>G; p.T987A; 18:31476219-31476219	skin	malignant_melanoma	Substitution - Missense
c.1498G>A; p.D500N; 18:31466616-31466616	skin	malignant_melanoma	Substitution - Missense
c.1350G>A; p.M450I; 18:31465396-31465396	skin	malignant_melanoma	Substitution - Missense
c.1139G>A; p.G380E; 18:31464250-31464250	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1139G>A; p.G380E; 18:31464250-31464250	skin	malignant_melanoma	Substitution - Missense
c.1492G>A; p.E498K; 18:31466610-31466610	skin	malignant_melanoma	Substitution - Missense
c.2243G>A; p.G748E; 18:31474262-31474262	skin	malignant_melanoma	Substitution - Missense
c.2243G>A; p.G748E; 18:31474262-31474262	skin	malignant_melanoma	Substitution - Missense
c.182G>A; p.G61E; 18:31457090-31457090	skin	malignant_melanoma	Substitution - Missense
c.1154C>T; p.P385L; 18:31464265-31464265	skin	malignant_melanoma	Substitution - Missense
c.1232C>T; p.A411V; 18:31464343-31464343	skin	malignant_melanoma	Substitution - Missense
c.1154C>T; p.P385L; 18:31464265-31464265	skin	malignant_melanoma	Substitution - Missense
c.2255C>T; p.A752V; 18:31474274-31474274	skin	malignant_melanoma	Substitution - Missense
c.1875C>T; p.L625L; 18:31469327-31469327	skin	malignant_melanoma	Substitution - coding silent
c.2099C>T; p.S700F; 18:31472786-31472786	skin	malignant_melanoma	Substitution - Missense
c.767A>G; p.K256R; 18:31460915-31460915	skin	malignant_melanoma	Substitution - Missense
c.2021C>T; p.A674V; 18:31472407-31472407	skin	malignant_melanoma	Substitution - Missense
c.1838C>T; p.S613L; 18:31469290-31469290	skin	malignant_melanoma	Substitution - Missense
c.2762C>T; p.S921F; 18:31476022-31476022	skin	malignant_melanoma	Substitution - Missense
c.1838C>T; p.S613L; 18:31469290-31469290	skin	malignant_melanoma	Substitution - Missense
c.1308G>A; p.M436I; 18:31465354-31465354	skin	malignant_melanoma	Substitution - Missense
c.272G>A; p.G91E; 18:31458500-31458500	skin	malignant_melanoma	Substitution - Missense
c.1420G>A; p.G474S; 18:31466538-31466538	skin	malignant_melanoma	Substitution - Missense
c.1975C>T; p.P659S; 18:31472361-31472361	skin	malignant_melanoma	Substitution - Missense
c.1975C>T; p.P659S; 18:31472361-31472361	skin	malignant_melanoma	Substitution - Missense
c.2455G>A; p.E819K; 18:31475715-31475715	skin	malignant_melanoma	Substitution - Missense
c.775G>A; p.D259N; 18:31460923-31460923	skin	malignant_melanoma	Substitution - Missense
c.2917C>T; p.P973S; 18:31476177-31476177	skin	malignant_melanoma	Substitution - Missense
c.2917C>T; p.P973S; 18:31476177-31476177	skin	malignant_melanoma	Substitution - Missense
c.1723C>T; p.R575W; 18:31469175-31469175	skin	malignant_melanoma	Substitution - Missense
c.2681G>A; p.G894E; 18:31475941-31475941	skin; trunk	malignant_melanoma	Substitution - Missense
c.584C>T; p.A195V; 18:31459911-31459911	skin	malignant_melanoma	Substitution - Missense
c.2325C>T; p.T775T; 18:31474344-31474344	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.588C>T; p.F196F; 18:31459915-31459915	skin	malignant_melanoma	Substitution - coding silent
c.1066C>T; p.H356Y; 18:31464177-31464177	skin	malignant_melanoma	Substitution - Missense
c.2671C>T; p.Q891*; 18:31475931-31475931	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2639G>A; p.G880E; 18:31475899-31475899	skin	malignant_melanoma	Substitution - Missense
c.1080C>T; p.I360I; 18:31464191-31464191	skin	malignant_melanoma	Substitution - coding silent
c.1272-4_1272-3AC>TT; p.?; 18:31465314-31465315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1799C>T; p.P600L; 18:31469251-31469251	skin	malignant_melanoma	Substitution - Missense
c.1066C>A; p.H356N; 18:31464177-31464177	skin	malignant_melanoma	Substitution - Missense
c.938G>A; p.G313E; 18:31461351-31461351	skin	malignant_melanoma	Substitution - Missense
c.2449G>A; p.D817N; 18:31475709-31475709	skin	malignant_melanoma	Substitution - Missense
c.1714C>G; p.Q572E; 18:31469166-31469166	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2231G>A; p.G744E; 18:31474250-31474250	skin	malignant_melanoma	Substitution - Missense
c.486C>T; p.F162F; 18:31459146-31459146	skin	malignant_melanoma	Substitution - coding silent
c.902G>A; p.W301*; 18:31461315-31461315	skin	malignant_melanoma	Substitution - Nonsense
c.82G>A; p.E28K; 18:31456473-31456473	skin	malignant_melanoma	Substitution - Missense
c.1430C>T; p.S477F; 18:31466548-31466548	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1651C>T; p.L551F; 18:31469103-31469103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.604G>A; p.E202K; 18:31459931-31459931	skin	malignant_melanoma	Substitution - Missense
c.2977G>A; p.D993N; 18:31476237-31476237	skin	malignant_melanoma	Substitution - Missense
c.2157G>A; p.M719I; 18:31474176-31474176	skin	malignant_melanoma	Substitution - Missense
c.2157G>A; p.M719I; 18:31474176-31474176	skin	malignant_melanoma	Substitution - Missense
c.2748C>T; p.V916V; 18:31476008-31476008	skin	malignant_melanoma	Substitution - coding silent
c.100G>A; p.D34N; 18:31457008-31457008	skin	malignant_melanoma	Substitution - Missense
c.401G>A; p.G134E; 18:31459061-31459061	skin	malignant_melanoma	Substitution - Missense
c.2038G>A; p.E680K; 18:31472725-31472725	skin	malignant_melanoma	Substitution - Missense
c.2038G>A; p.E680K; 18:31472725-31472725	skin; arm	malignant_melanoma	Substitution - Missense
c.2163G>A; p.M721I; 18:31474182-31474182	skin	malignant_melanoma	Substitution - Missense
c.2163G>A; p.M721I; 18:31474182-31474182	skin	malignant_melanoma	Substitution - Missense
c.2825C>T; p.S942F; 18:31476085-31476085	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.2825C>T; p.S942F; 18:31476085-31476085	skin	malignant_melanoma	Substitution - Missense
c.2826C>T; p.S942S; 18:31476086-31476086	skin	malignant_melanoma	Substitution - coding silent
c.1905C>T; p.P635P; 18:31472291-31472291	skin	malignant_melanoma	Substitution - coding silent
c.2407G>A; p.E803K; 18:31475667-31475667	skin	malignant_melanoma	Substitution - Missense
c.200G>A; p.R67K; 18:31457108-31457108	skin	malignant_melanoma	Substitution - Missense
c.200G>A; p.R67K; 18:31457108-31457108	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1815G>A; p.G605G; 18:31469267-31469267	skin	malignant_melanoma	Substitution - coding silent
c.443T>C; p.L148S; 18:31459103-31459103	skin	malignant_melanoma	Substitution - Missense
c.1548G>A; p.L516L; 18:31466666-31466666	skin	malignant_melanoma	Substitution - coding silent
c.2479C>T; p.P827S; 18:31475739-31475739	skin	malignant_melanoma	Substitution - Missense
c.2358G>A; p.M786I; 18:31474377-31474377	skin	malignant_melanoma	Substitution - Missense
c.2413G>A; p.D805N; 18:31475673-31475673	skin	malignant_melanoma	Substitution - Missense
c.2358G>A; p.M786I; 18:31474377-31474377	skin	malignant_melanoma	Substitution - Missense
c.2062C>T; p.P688S; 18:31472749-31472749	skin	malignant_melanoma	Substitution - Missense
c.528G>A; p.V176V; 18:31459855-31459855	skin	malignant_melanoma	Substitution - coding silent
c.2317G>A; p.G773R; 18:31474336-31474336	skin	malignant_melanoma	Substitution - Missense
c.2317G>A; p.G773R; 18:31474336-31474336	skin	malignant_melanoma	Substitution - Missense
c.1138G>A; p.G380R; 18:31464249-31464249	skin	malignant_melanoma	Substitution - Missense
c.444G>A; p.L148L; 18:31459104-31459104	skin	malignant_melanoma	Substitution - coding silent
c.1991G>A; p.G664E; 18:31472377-31472377	skin	malignant_melanoma	Substitution - Missense
c.1991G>A; p.G664E; 18:31472377-31472377	skin	malignant_melanoma	Substitution - Missense
c.700C>T; p.R234C; 18:31460848-31460848	skin	malignant_melanoma	Substitution - Missense
c.700C>T; p.R234C; 18:31460848-31460848	skin	malignant_melanoma	Substitution - Missense
c.2230G>A; p.G744R; 18:31474249-31474249	skin	malignant_melanoma	Substitution - Missense
c.1659C>T; p.A553A; 18:31469111-31469111	skin	malignant_melanoma	Substitution - coding silent
c.2008G>A; p.G670R; 18:31472394-31472394	skin	malignant_melanoma	Substitution - Missense
c.2008G>A; p.G670R; 18:31472394-31472394	skin	malignant_melanoma	Substitution - Missense
c.560C>T; p.P187L; 18:31459887-31459887	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1091G>A; p.R364Q; 18:31464202-31464202	skin	malignant_melanoma	Substitution - Missense
c.1001C>T; p.A334V; 18:31464112-31464112	skin	malignant_melanoma	Substitution - Missense
c.276C>A; p.I92I; 18:31458504-31458504	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.283C>T; p.P95S; 18:31458511-31458511	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1011T>C; p.Y337Y; 18:31464122-31464122	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1104C>T; p.T368T; 18:31464215-31464215	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.256C>T; p.R86*; 18:31458484-31458484	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.715G>T; p.G239C; 18:31460863-31460863	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.211G>T; p.A71S; 18:31457119-31457119	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>T; p.T371I; 18:31464223-31464223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.700C>T; p.R234C; 18:31460848-31460848	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2267G>A; p.G756D; 18:31474286-31474286	stomach	adenocarcinoma	Substitution - Missense
c.1739G>A; p.R580H; 18:31469191-31469191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.285G>A; p.P95P; 18:31458513-31458513	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.655C>T; p.R219C; 18:31459982-31459982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.77G>A; p.R26Q; 18:31456468-31456468	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.349C>T; p.R117W; 18:31458577-31458577	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.996G>T; p.V332V; 18:31461409-31461409	thyroid	other; neoplasm	Substitution - coding silent
c.2763C>T; p.S921S; 18:31476023-31476023	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.325A>G; p.I109V; 18:31458553-31458553	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1475G>C; p.C492S; 18:31466593-31466593	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2560A>T; p.K854*; 18:31475820-31475820	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.2560A>T; p.K854*; 18:31475820-31475820	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2255C>T; p.A752V; 18:31474274-31474274	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1653C>T; p.L551L; 18:31469105-31469105	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1653C>T; p.L551L; 18:31469105-31469105	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1812T>G; p.P604P; 18:31469264-31469264	urinary_tract; bladder	carcinoma	Substitution - coding silent

Oncogene database

COSMIC confirmed somatic mutation [Top]

Bioinformatics and cancer genomics links

Bioinformatics centers

Bioinformatics centers

Welcome to Bioinfo-MinZhao!