Entrez Gene

Basic Information
Gene ID	6608
Name	SMO
Synonymous	smoothened, frizzled class receptor;SMO;smoothened, frizzled class receptor
Definition	frizzled family member 11\|protein Gx\|seven transmembrane helix receptor\|smoothened homolog\|smoothened, frizzled family receptor\|smoothened, seven transmembrane spanning receptor
Position	7q32.3
Gene Type	protein-coding

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

c.970G>A; p.A324T; 7:129206199-129206199	biliary_tract; bile_duct	carcinoma	Substitution - Missense
c.1223T>C; p.I408T; 7:129206546-129206546	bone; scapula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; mandible	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; mandible	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	bone; maxilla	other; ameloblastoma	Substitution - Missense
c.1244G>C; p.G415A; 7:129206567-129206567	breast	carcinoma	Substitution - Missense
c.1315G>A; p.E439K; 7:129208809-129208809	breast	carcinoma	Substitution - Missense
c.1045A>C; p.T349P; 7:129206274-129206274	breast	carcinoma	Substitution - Missense
c.1665G>A; p.Q555Q; 7:129210977-129210977	breast	carcinoma	Substitution - coding silent
c.645C>G; p.I215M; 7:129205310-129205310	breast	carcinoma	Substitution - Missense
c.1692G>A; p.K564K; 7:129211004-129211004	breast	carcinoma	Substitution - coding silent
c.1082A>C; p.H361P; 7:129206311-129206311	breast	carcinoma	Substitution - Missense
c.2302C>T; p.P768S; 7:129212389-129212389	breast	carcinoma	Substitution - Missense
c.2361C>T; p.F787F; 7:129212448-129212448	breast	carcinoma	Substitution - coding silent
c.1598G>A; p.S533N; 7:129210494-129210494	central_nervous_system; cerebellum	primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1514C>T; p.P505L; 7:129210410-129210410	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.413G>A; p.R138Q; 7:129203465-129203465	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.49C>T; p.L17L; 7:129189200-129189200	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1234C>T; p.L412F; 7:129206557-129206557	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.833G>T; p.S278I; 7:129205695-129205695	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1417G>C; p.D473H; 7:129209348-129209348	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1623G>A; p.T541T; 7:129210519-129210519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1446C>T; p.R482R; 7:129209377-129209377	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2107C>T; p.R703*; 7:129212194-129212194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.639C>T; p.C213C; 7:129205304-129205304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1352G>A; p.R451H; 7:129208846-129208846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1905G>T; p.Q635H; 7:129211739-129211739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1470T>A; p.C490*; 7:129210366-129210366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.756C>T; p.F252F; 7:129205618-129205618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1684C>T; p.R562W; 7:129210996-129210996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2168A>T; p.D723V; 7:129212255-129212255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2051C>T; p.P684L; 7:129212138-129212138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2260G>A; p.A754T; 7:129212347-129212347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.907C>A; p.L303I; 7:129205769-129205769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1164G>C; p.G388G; 7:129206487-129206487	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1265-2A>T; p.?; 7:129208757-129208757	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1823A>G; p.N608S; 7:129211657-129211657	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.2097T>G; p.S699R; 7:129212184-129212184	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1446C>G; p.R482R; 7:129209377-129209377	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2057C>T; p.A686V; 7:129212144-129212144	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.703G>A; p.A235T; 7:129205368-129205368	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1203G>C; p.A401A; 7:129206526-129206526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1419C>T; p.D473D; 7:129209350-129209350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.722C>T; p.T241M; 7:129205387-129205387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1597A>G; p.S533G; 7:129210493-129210493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1597A>G; p.S533G; 7:129210493-129210493	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2076delC; p.P694fs*82; 7:129212163-129212163	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2076delC; p.P694fs*82; 7:129212163-129212163	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.704C>T; p.A235V; 7:129205369-129205369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2076delC; p.P694fs*82; 7:129212163-129212163	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2076delC; p.P694fs*82; 7:129212163-129212163	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2076delC; p.P694fs*82; 7:129212163-129212163	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2076delC; p.P694fs*82; 7:129212163-129212163	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2076delC; p.P694fs*82; 7:129212163-129212163	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1843T>C; p.S615P; 7:129211677-129211677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>A; p.E194K; 7:129205245-129205245	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1598G>A; p.S533N; 7:129210494-129210494	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.L362L; 7:129206313-129206313	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203G>T; p.A401A; 7:129206526-129206526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1918A>G; p.T640A; 7:129211752-129211752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918A>G; p.T640A; 7:129211752-129211752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918A>G; p.T640A; 7:129211752-129211752	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1918A>G; p.T640A; 7:129211752-129211752	large_intestine; colon	carcinoma	Substitution - Missense
c.1918A>G; p.T640A; 7:129211752-129211752	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1918A>G; p.T640A; 7:129211752-129211752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918A>G; p.T640A; 7:129211752-129211752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.V404M; 7:129206533-129206533	large_intestine; colon	carcinoma	Substitution - Missense
c.1210G>A; p.V404M; 7:129206533-129206533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.V404M; 7:129206533-129206533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.V404M; 7:129206533-129206533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.V404M; 7:129206533-129206533	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.879C>T; p.I293I; 7:129205741-129205741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2287C>T; p.R763*; 7:129212374-129212374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.983G>A; p.G328D; 7:129206212-129206212	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>T; p.A264S; 7:129205652-129205652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.868C>A; p.R290S; 7:129205730-129205730	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1724A>G; p.K575R; 7:129211036-129211036	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1686G>A; p.R562R; 7:129210998-129210998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.769C>T; p.R257W; 7:129205631-129205631	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2160A>C; p.G720G; 7:129212247-129212247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.970G>A; p.A324T; 7:129206199-129206199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.A324T; 7:129206199-129206199	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.A324T; 7:129206199-129206199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.A324T; 7:129206199-129206199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1772T>G; p.M591R; 7:129211084-129211084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2297T>C; p.L766P; 7:129212384-129212384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1458C>A; p.D486E; 7:129209389-129209389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2002C>T; p.R668C; 7:129212089-129212089	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1685G>A; p.R562Q; 7:129210997-129210997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.640G>A; p.G214S; 7:129205305-129205305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.48_49insCTGCTG; p.L23_G24insLL; 7:129189199-129189200	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.1302C>T; p.P434P; 7:129208796-129208796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.734C>T; p.T245M; 7:129205399-129205399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.596G>A; p.R199Q; 7:129205261-129205261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.755T>A; p.F252Y; 7:129205617-129205617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1671C>T; p.D557D; 7:129210983-129210983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551_1553delGGA; p.E518delE; 7:129210447-129210449	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1671C>T; p.D557D; 7:129210983-129210983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.433A>G; p.T145A; 7:129203485-129203485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2187G>A; p.A729A; 7:129212274-129212274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.469G>A; p.V157M; 7:129203521-129203521	liver	carcinoma	Substitution - Missense
c.1691A>G; p.K564R; 7:129211003-129211003	liver	carcinoma	Substitution - Missense
c.1691A>G; p.K564R; 7:129211003-129211003	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1724A>T; p.K575M; 7:129211036-129211036	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1724A>T; p.K575M; 7:129211036-129211036	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1652+4G>T; p.?; 7:129210552-129210552	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1358G>T; p.G453V; 7:129209289-129209289	liver	carcinoma	Substitution - Missense
c.1358G>T; p.G453V; 7:129209289-129209289	liver	carcinoma	Substitution - Missense
c.1397C>A; p.T466N; 7:129209328-129209328	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1263A>T; p.R421R; 7:129206586-129206586	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1191C>A; p.Y397*; 7:129206514-129206514	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1351C>A; p.R451S; 7:129208845-129208845	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>A; p.V210M; 7:129205293-129205293	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1514C>G; p.P505R; 7:129210410-129210410	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1085T>G; p.L362R; 7:129206314-129206314	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>A; p.R173S; 7:129203569-129203569	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1721C>G; p.S574C; 7:129211033-129211033	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.625G>T; p.D209Y; 7:129205290-129205290	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1549G>T; p.V517L; 7:129210445-129210445	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.906G>A; p.R302R; 7:129205768-129205768	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.868C>A; p.R290S; 7:129205730-129205730	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1922C>G; p.P641R; 7:129211756-129211756	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1640G>T; p.R547L; 7:129210536-129210536	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1345A>T; p.M449L; 7:129208839-129208839	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1901C>T; p.P634L; 7:129211735-129211735	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1241T>C; p.V414A; 7:129206564-129206564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1924G>T; p.V642L; 7:129211758-129211758	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.773A>G; p.N258S; 7:129205635-129205635	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.849C>A; p.A283A; 7:129205711-129205711	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516G>A; p.D506N; 7:129210412-129210412	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	meninges	meningioma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	meninges	meningioma; meningothelial	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	meninges	meningioma; meningothelial	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma; meningothelial	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma	Substitution - Missense
c.1234C>T; p.L412F; 7:129206557-129206557	meninges	meningioma; transitional	Substitution - Missense
c.2336A>G; p.E779G; 7:129212423-129212423	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1376C>T; p.A459V; 7:129209307-129209307	oesophagus	carcinoma	Substitution - Missense
c.1782G>A; p.V594V; 7:129211094-129211094	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.961G>A; p.V321M; 7:129206190-129206190	oesophagus	carcinoma	Substitution - Missense
c.1983C>A; p.I661I; 7:129212070-129212070	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1169G>A; p.C390Y; 7:129206492-129206492	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.936G>T; p.L312L; 7:129206165-129206165	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1802C>T; p.A601V; 7:129211636-129211636	pancreas	carcinoma	Substitution - Missense
c.1802C>T; p.A601V; 7:129211636-129211636	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2057C>T; p.A686V; 7:129212144-129212144	pancreas	carcinoma	Substitution - Missense
c.734C>G; p.T245R; 7:129205399-129205399	pancreas	other; adenoma	Substitution - Missense
c.69_70insCTG; p.L23_G24insL; 7:129189220-129189221	pleura	mesothelioma	Insertion - In frame
c.69_70insCTG; p.L23_G24insL; 7:129189220-129189221	pleura	mesothelioma; biphasic	Insertion - In frame
c.1732G>A; p.E578K; 7:129211044-129211044	prostate	carcinoma	Substitution - Missense
c.1452_1453CC>TT; p.R485W; 7:129209383-129209384	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1955C>T; p.A652V; 7:129212042-129212042	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin; arm	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.2263_2264CC>TT; p.P755F; 7:129212350-129212351	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.362T>G; p.V121G; 7:129203414-129203414	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1489G>T; p.G497W; 7:129210385-129210385	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.583G>A; p.V195M; 7:129205248-129205248	skin	malignant_melanoma	Substitution - Missense
c.1489G>T; p.G497W; 7:129210385-129210385	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1489G>T; p.G497W; 7:129210385-129210385	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.869G>A; p.R290H; 7:129205731-129205731	skin	malignant_melanoma	Substitution - Missense
c.1542_1543CC>TT; p.L515F; 7:129210438-129210439	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.234_235CC>TT; p.(=); 7:129189385-129189386	skin	carcinoma; basal_cell_carcinoma	Unknown
c.1906G>A; p.D636N; 7:129211740-129211740	skin	malignant_melanoma	Substitution - Missense
c.1193G>A; p.R398Q; 7:129206516-129206516	skin	malignant_melanoma	Substitution - Missense
c.1582A>G; p.T528A; 7:129210478-129210478	skin	malignant_melanoma	Substitution - Missense
c.2312C>T; p.S771F; 7:129212399-129212399	skin	malignant_melanoma	Substitution - Missense
c.1988C>T; p.P663L; 7:129212075-129212075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1524G>A; p.E508E; 7:129210420-129210420	skin	malignant_melanoma	Substitution - coding silent
c.595C>T; p.R199W; 7:129205260-129205260	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.595C>T; p.R199W; 7:129205260-129205260	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.595C>T; p.R199W; 7:129205260-129205260	skin	malignant_melanoma	Substitution - Missense
c.799C>T; p.L267F; 7:129205661-129205661	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1046_1047CC>TT; p.T349I; 7:129206275-129206276	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1417G>T; p.D473Y; 7:129209348-129209348	skin; shoulder	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1834G>A; p.A612T; 7:129211668-129211668	skin	malignant_melanoma	Substitution - Missense
c.2328G>A; p.M776I; 7:129212415-129212415	skin	malignant_melanoma	Substitution - Missense
c.1685G>A; p.R562Q; 7:129210997-129210997	skin	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.781C>T; p.R261C; 7:129205643-129205643	skin	malignant_melanoma	Substitution - Missense
c.1101C>T; p.L367L; 7:129206330-129206330	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.203_204CC>TT; p.A68V; 7:129189354-129189355	skin; face	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.442C>T; p.Q148*; 7:129203494-129203494	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2010_2011CC>TT; p.R671W; 7:129212097-129212098	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265-3C>T; p.?; 7:129208756-129208756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.808G>A; p.V270I; 7:129205670-129205670	soft_tissue; striated_muscle	rhabdomyoma; fetal	Substitution - Missense
c.1494G>A; p.L498L; 7:129210390-129210390	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.47_48insGCT; p.L23_G24insL; 7:129189198-129189199	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - In frame
c.47_48insGCT; p.L23_G24insL; 7:129189198-129189199	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Insertion - In frame
c.1180T>C; p.Y394H; 7:129206503-129206503	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.704C>T; p.A235V; 7:129205369-129205369	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.505T>G; p.C169G; 7:129203557-129203557	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1402A>G; p.S468G; 7:129209333-129209333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1225G>A; p.G409S; 7:129206548-129206548	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.W256*; 7:129205629-129205629	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.496T>C; p.F166L; 7:129203548-129203548	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.869G>A; p.R290H; 7:129205731-129205731	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1792G>T; p.G598W; 7:129211104-129211104	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>T; p.C193C; 7:129205244-129205244	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1373T>C; p.L458P; 7:129209304-129209304	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.871C>T; p.R291*; 7:129205733-129205733	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1444C>T; p.R482C; 7:129209375-129209375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.766T>C; p.W256R; 7:129205628-129205628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1640G>A; p.R547H; 7:129210536-129210536	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2177G>A; p.R726Q; 7:129212264-129212264	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2177G>A; p.R726Q; 7:129212264-129212264	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.776C>T; p.S259L; 7:129205638-129205638	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.508A>C; p.T170P; 7:129203560-129203560	thyroid	other; neoplasm	Substitution - Missense
c.2045T>C; p.V682A; 7:129212132-129212132	thyroid	other; neoplasm	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	upper_aerodigestive_tract; mouth	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.1604G>T; p.W535L; 7:129210500-129210500	upper_aerodigestive_tract; mouth	carcinoma; basal_cell_carcinoma	Substitution - Missense
c.350G>T; p.R117L; 7:129203402-129203402	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1396A>C; p.T466P; 7:129209327-129209327	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.717C>T; p.A239A; 7:129205382-129205382	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.717C>T; p.A239A; 7:129205382-129205382	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1796C>A; p.P599H; 7:129211108-129211108	urinary_tract; bladder	carcinoma	Substitution - Missense
c.838G>T; p.G280C; 7:129205700-129205700	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1617G>A; p.K539K; 7:129210513-129210513	urinary_tract; bladder	carcinoma	Substitution - coding silent

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COSMIC confirmed somatic mutation [Top]

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