Entrez Gene

Basic Information
Gene ID	1828
Name	DSG1
Synonymous	desmoglein 1;DSG1;desmoglein 1
Definition	cadherin family member 4\|desmoglein-1\|desmosomal glycoprotein 1\|pemphigus foliaceus antigen
Position	18q12.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1861G>A; p.A621T; 18:31343965-31343965	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.679_680delAG; p.E228fs*13; 18:31331862-31331863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2646G>A; p.E882E; 18:31354842-31354842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1380C>A; p.Y460*; 18:31338429-31338429	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.778C>T; p.L260F; 18:31333682-31333682	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1683A>G; p.L561L; 18:31340021-31340021	liver	carcinoma	Substitution - coding silent
c.823A>G; p.T275A; 18:31334020-31334020	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.885G>A; p.L295L; 18:31334082-31334082	skin	malignant_melanoma	Substitution - coding silent
c.2777T>C; p.V926A; 18:31354973-31354973	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2965G>A; p.G989S; 18:31355161-31355161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2039C>T; p.S680F; 18:31346137-31346137	skin	malignant_melanoma	Substitution - Missense
c.2515G>A; p.E839K; 18:31354711-31354711	skin	malignant_melanoma	Substitution - Missense
c.2575G>A; p.A859T; 18:31354771-31354771	skin	malignant_melanoma	Substitution - Missense
c.2474C>T; p.P825L; 18:31354670-31354670	skin	malignant_melanoma	Substitution - Missense
c.1604G>A; p.G535E; 18:31339942-31339942	skin	malignant_melanoma	Substitution - Missense
c.692G>T; p.G231V; 18:31333596-31333596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2300C>T; p.S767L; 18:31354496-31354496	skin	malignant_melanoma	Substitution - Missense
c.2131G>T; p.G711*; 18:31354327-31354327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2011G>T; p.E671*; 18:31346109-31346109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2230G>A; p.D744N; 18:31354426-31354426	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2418C>A; p.T806T; 18:31354614-31354614	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1612G>T; p.D538Y; 18:31339950-31339950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2368G>A; p.E790K; 18:31354564-31354564	skin	malignant_melanoma	Substitution - Missense
c.2368G>A; p.E790K; 18:31354564-31354564	skin; extremity	malignant_melanoma	Substitution - Missense
c.1075C>A; p.H359N; 18:31336423-31336423	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2082G>A; p.M694I; 18:31346180-31346180	skin	malignant_melanoma	Substitution - Missense
c.250A>T; p.T84S; 18:31328222-31328222	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1909T>C; p.Y637H; 18:31346007-31346007	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1762G>A; p.E588K; 18:31343524-31343524	skin	malignant_melanoma	Substitution - Missense
c.2578T>A; p.S860T; 18:31354774-31354774	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1346C>G; p.T449S; 18:31338395-31338395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.655C>T; p.R219*; 18:31331838-31331838	skin	malignant_melanoma	Substitution - Nonsense
c.1008C>T; p.P336P; 18:31336356-31336356	skin	malignant_melanoma	Substitution - coding silent
c.84+3A>G; p.?; 18:31326619-31326619	liver	carcinoma	Unknown
c.84+3A>G; p.?; 18:31326619-31326619	liver	carcinoma	Unknown
c.724C>T; p.R242*; 18:31333628-31333628	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.724C>T; p.R242*; 18:31333628-31333628	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1921G>A; p.E641K; 18:31346019-31346019	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2255G>T; p.G752V; 18:31354451-31354451	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.724C>T; p.R242*; 18:31333628-31333628	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1615T>G; p.L539V; 18:31339953-31339953	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.91G>T; p.D31Y; 18:31326880-31326880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1734T>A; p.R578R; 18:31343496-31343496	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1734T>A; p.R578R; 18:31343496-31343496	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1615T>G; p.L539V; 18:31339953-31339953	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.91G>T; p.D31Y; 18:31326880-31326880	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2039C>A; p.S680Y; 18:31346137-31346137	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2533G>C; p.D845H; 18:31354729-31354729	breast	carcinoma	Substitution - Missense
c.2359C>T; p.Q787*; 18:31354555-31354555	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.85-1G>C; p.?; 18:31326873-31326873	lung	carcinoma; adenocarcinoma	Unknown
c.767A>G; p.N256S; 18:31333671-31333671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2598G>A; p.E866E; 18:31354794-31354794	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.767A>G; p.N256S; 18:31333671-31333671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1610A>G; p.K537R; 18:31339948-31339948	urinary_tract; bladder	carcinoma	Substitution - Missense
c.224C>T; p.S75L; 18:31328196-31328196	skin; mucosal	malignant_melanoma	Substitution - Missense
c.171C>T; p.A57A; 18:31326960-31326960	skin	malignant_melanoma	Substitution - coding silent
c.2563G>A; p.D855N; 18:31354759-31354759	skin	malignant_melanoma	Substitution - Missense
c.2563G>A; p.D855N; 18:31354759-31354759	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2709T>G; p.S903S; 18:31354905-31354905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2563G>A; p.D855N; 18:31354759-31354759	skin	malignant_melanoma	Substitution - Missense
c.176G>A; p.R59H; 18:31326965-31326965	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2563G>A; p.D855N; 18:31354759-31354759	skin	malignant_melanoma	Substitution - Missense
c.1963G>C; p.E655Q; 18:31346061-31346061	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2133A>G; p.G711G; 18:31354329-31354329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.49G>A; p.V17M; 18:31326581-31326581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.331A>G; p.I111V; 18:31328303-31328303	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2157C>G; p.L719L; 18:31354353-31354353	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2660G>A; p.R887Q; 18:31354856-31354856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.162C>T; p.F54F; 18:31326951-31326951	skin	malignant_melanoma	Substitution - coding silent
c.162C>T; p.F54F; 18:31326951-31326951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.162C>T; p.F54F; 18:31326951-31326951	breast	carcinoma	Substitution - coding silent
c.162C>T; p.F54F; 18:31326951-31326951	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2500delA; p.N834fs*4; 18:31354696-31354696	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1822G>A; p.D608N; 18:31343926-31343926	skin	malignant_melanoma	Substitution - Missense
c.1822G>A; p.D608N; 18:31343926-31343926	skin	malignant_melanoma	Substitution - Missense
c.766A>G; p.N256D; 18:31333670-31333670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2388C>T; p.H796H; 18:31354584-31354584	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2485C>T; p.P829S; 18:31354681-31354681	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2158A>G; p.I720V; 18:31354354-31354354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2063G>A; p.G688D; 18:31346161-31346161	skin	malignant_melanoma	Substitution - Missense
c.489A>T; p.A163A; 18:31330008-31330008	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3061C>A; p.H1021N; 18:31355257-31355257	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2624C>T; p.A875V; 18:31354820-31354820	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.211G>A; p.A71T; 18:31327000-31327000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.216+1G>A; p.?; 18:31327006-31327006	skin	malignant_melanoma	Unknown
c.211G>A; p.A71T; 18:31327000-31327000	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2502T>G; p.N834K; 18:31354698-31354698	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2681T>G; p.V894G; 18:31354877-31354877	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1701G>C; p.L567F; 18:31343463-31343463	urinary_tract; bladder	carcinoma	Substitution - Missense
c.955G>T; p.E319*; 18:31334152-31334152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.473C>T; p.S158L; 18:31329992-31329992	skin	malignant_melanoma	Substitution - Missense
c.473C>T; p.S158L; 18:31329992-31329992	skin	malignant_melanoma	Substitution - Missense
c.2250C>T; p.T750T; 18:31354446-31354446	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2250C>T; p.T750T; 18:31354446-31354446	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1733G>A; p.R578H; 18:31343495-31343495	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.944G>A; p.G315E; 18:31334141-31334141	skin	malignant_melanoma	Substitution - Missense
c.944G>A; p.G315E; 18:31334141-31334141	skin	malignant_melanoma	Substitution - Missense
c.1044T>C; p.S348S; 18:31336392-31336392	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.944G>A; p.G315E; 18:31334141-31334141	skin	malignant_melanoma	Substitution - Missense
c.2341G>A; p.E781K; 18:31354537-31354537	breast	carcinoma	Substitution - Missense
c.880G>C; p.D294H; 18:31334077-31334077	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1385G>A; p.G462E; 18:31338434-31338434	skin; nipple	malignant_melanoma	Substitution - Missense
c.730G>T; p.G244C; 18:31333634-31333634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>A; p.G462E; 18:31338434-31338434	skin	malignant_melanoma	Substitution - Missense
c.2560C>A; p.H854N; 18:31354756-31354756	prostate	carcinoma	Substitution - Missense
c.858T>A; p.N286K; 18:31334055-31334055	skin	malignant_melanoma	Substitution - Missense
c.1104A>T; p.K368N; 18:31336452-31336452	ovary	other; neoplasm	Substitution - Missense
c.961G>T; p.E321*; 18:31334158-31334158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.961G>T; p.E321*; 18:31334158-31334158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1166C>T; p.S389L; 18:31336514-31336514	skin	malignant_melanoma	Substitution - Missense
c.3020G>T; p.G1007V; 18:31355216-31355216	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2079C>T; p.F693F; 18:31346177-31346177	skin	malignant_melanoma	Substitution - coding silent
c.2367A>T; p.T789T; 18:31354563-31354563	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.979A>C; p.N327H; 18:31334176-31334176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1714G>A; p.D572N; 18:31343476-31343476	skin	malignant_melanoma	Substitution - Missense
c.2259T>A; p.P753P; 18:31354455-31354455	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.297C>A; p.I99I; 18:31328269-31328269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.550G>A; p.A184T; 18:31331733-31331733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1805C>T; p.P602L; 18:31343567-31343567	skin	malignant_melanoma	Substitution - Missense
c.1756G>A; p.V586I; 18:31343518-31343518	skin	malignant_melanoma	Substitution - Missense
c.2737C>T; p.H913Y; 18:31354933-31354933	skin	malignant_melanoma	Substitution - Missense
c.2317C>T; p.P773S; 18:31354513-31354513	skin	malignant_melanoma	Substitution - Missense
c.2812A>T; p.S938C; 18:31355008-31355008	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2765T>C; p.V922A; 18:31354961-31354961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2550T>C; p.S850S; 18:31354746-31354746	ovary	other; neoplasm	Substitution - coding silent
c.2065C>T; p.L689L; 18:31346163-31346163	skin	malignant_melanoma	Substitution - coding silent
c.1299A>G; p.L433L; 18:31338348-31338348	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1678G>A; p.V560I; 18:31340016-31340016	skin	malignant_melanoma	Substitution - Missense
c.2948G>A; p.S983N; 18:31355144-31355144	skin	malignant_melanoma	Substitution - Missense
c.1389G>A; p.T463T; 18:31338438-31338438	skin	malignant_melanoma	Substitution - coding silent
c.2467C>T; p.P823S; 18:31354663-31354663	skin	malignant_melanoma	Substitution - Missense
c.1573A>G; p.S525G; 18:31339911-31339911	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2305C>T; p.P769S; 18:31354501-31354501	skin	malignant_melanoma	Substitution - Missense
c.768C>A; p.N256K; 18:31333672-31333672	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1890A>G; p.S630S; 18:31343994-31343994	pancreas	carcinoma	Substitution - coding silent
c.1890A>G; p.S630S; 18:31343994-31343994	pancreas	carcinoma	Substitution - coding silent
c.1016A>G; p.Y339C; 18:31336364-31336364	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1519C>T; p.Q507*; 18:31339857-31339857	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2374G>T; p.V792F; 18:31354570-31354570	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2362G>A; p.E788K; 18:31354558-31354558	skin	malignant_melanoma	Substitution - Missense
c.2362G>A; p.E788K; 18:31354558-31354558	skin	malignant_melanoma	Substitution - Missense
c.864C>T; p.L288L; 18:31334061-31334061	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1204G>A; p.D402N; 18:31336552-31336552	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1204G>A; p.D402N; 18:31336552-31336552	skin	malignant_melanoma	Substitution - Missense
c.3069T>C; p.F1023F; 18:31355265-31355265	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.868A>G; p.I290V; 18:31334065-31334065	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.868A>G; p.I290V; 18:31334065-31334065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1756G>T; p.V586F; 18:31343518-31343518	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2191G>T; p.G731C; 18:31354387-31354387	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.619C>T; p.P207S; 18:31331802-31331802	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1775G>T; p.G592V; 18:31343537-31343537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2409C>T; p.F803F; 18:31354605-31354605	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.257G>A; p.R86H; 18:31328229-31328229	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.257G>A; p.R86H; 18:31328229-31328229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3070delA; p.N1024fs*>26; 18:31355266-31355266	skin; mucosal	malignant_melanoma	Deletion - Frameshift
c.707C>A; p.A236D; 18:31333611-31333611	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3020G>A; p.G1007E; 18:31355216-31355216	skin	malignant_melanoma	Substitution - Missense
c.2839C>T; p.H947Y; 18:31355035-31355035	skin	malignant_melanoma	Substitution - Missense
c.1754C>T; p.P585L; 18:31343516-31343516	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.894G>A; p.E298E; 18:31334091-31334091	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.525G>A; p.L175L; 18:31331708-31331708	skin	malignant_melanoma	Substitution - coding silent
c.2953G>T; p.G985C; 18:31355149-31355149	central_nervous_system; brain	glioma	Substitution - Missense
c.1860C>T; p.N620N; 18:31343964-31343964	central_nervous_system; brain	glioma	Substitution - coding silent
c.271G>A; p.G91R; 18:31328243-31328243	skin	malignant_melanoma	Substitution - Missense
c.1011A>C; p.L337F; 18:31336359-31336359	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1277G>A; p.G426E; 18:31338326-31338326	skin	malignant_melanoma	Substitution - Missense
c.633C>T; p.I211I; 18:31331816-31331816	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.40A>G; p.I14V; 18:31318340-31318340	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.383G>A; p.R128Q; 18:31329902-31329902	skin	malignant_melanoma	Substitution - Missense
c.2067G>A; p.L689L; 18:31346165-31346165	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.966G>A; p.M322I; 18:31334163-31334163	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2067G>A; p.L689L; 18:31346165-31346165	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.535C>G; p.L179V; 18:31331718-31331718	kidney	other; neoplasm	Substitution - Missense
c.2670G>A; p.S890S; 18:31354866-31354866	skin	malignant_melanoma	Substitution - coding silent
c.2221G>A; p.E741K; 18:31354417-31354417	skin	malignant_melanoma	Substitution - Missense
c.352G>T; p.E118*; 18:31328324-31328324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.690C>T; p.Y230Y; 18:31333594-31333594	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.917T>C; p.V306A; 18:31334114-31334114	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.690C>T; p.Y230Y; 18:31333594-31333594	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.659C>T; p.T220M; 18:31331842-31331842	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.659C>T; p.T220M; 18:31331842-31331842	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.659C>T; p.T220M; 18:31331842-31331842	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.768C>T; p.N256N; 18:31333672-31333672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1526G>C; p.S509T; 18:31339864-31339864	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1363A>G; p.M455V; 18:31338412-31338412	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1042A>G; p.S348G; 18:31336390-31336390	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2794G>A; p.G932S; 18:31354990-31354990	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.798C>T; p.I266I; 18:31333702-31333702	skin	malignant_melanoma	Substitution - coding silent
c.83A>C; p.Q28P; 18:31326615-31326615	liver	carcinoma	Substitution - Missense
c.798C>T; p.I266I; 18:31333702-31333702	skin	malignant_melanoma	Substitution - coding silent
c.798C>T; p.I266I; 18:31333702-31333702	skin	malignant_melanoma	Substitution - coding silent
c.83A>C; p.Q28P; 18:31326615-31326615	liver	carcinoma	Substitution - Missense
c.656G>A; p.R219Q; 18:31331839-31331839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2740C>T; p.P914S; 18:31354936-31354936	skin	malignant_melanoma	Substitution - Missense
c.178G>A; p.E60K; 18:31326967-31326967	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2045G>A; p.R682K; 18:31346143-31346143	skin	malignant_melanoma	Substitution - Missense
c.2045G>A; p.R682K; 18:31346143-31346143	skin	malignant_melanoma	Substitution - Missense
c.77G>A; p.R26Q; 18:31326609-31326609	skin	malignant_melanoma	Substitution - Missense
c.1275G>A; p.M425I; 18:31338324-31338324	skin	malignant_melanoma	Substitution - Missense
c.1472G>A; p.R491K; 18:31339810-31339810	skin	malignant_melanoma	Substitution - Missense
c.2045G>A; p.R682K; 18:31346143-31346143	skin	malignant_melanoma	Substitution - Missense
c.2898C>A; p.G966G; 18:31355094-31355094	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.301G>A; p.V101I; 18:31328273-31328273	skin	malignant_melanoma	Substitution - Missense
c.564C>A; p.N188K; 18:31331747-31331747	central_nervous_system; brain	glioma	Substitution - Missense
c.2793C>T; p.S931S; 18:31354989-31354989	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2793C>T; p.S931S; 18:31354989-31354989	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.176G>T; p.R59L; 18:31326965-31326965	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.869T>A; p.I290N; 18:31334066-31334066	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3113G>A; p.R1038Q; 18:31355309-31355309	skin	malignant_melanoma	Substitution - Missense
c.2374G>A; p.V792I; 18:31354570-31354570	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1350G>A; p.K450K; 18:31338399-31338399	skin	malignant_melanoma	Substitution - coding silent
c.2523C>T; p.Y841Y; 18:31354719-31354719	skin	malignant_melanoma	Substitution - coding silent
c.931T>G; p.S311A; 18:31334128-31334128	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2798T>A; p.M933K; 18:31354994-31354994	skin	malignant_melanoma	Substitution - Missense
c.206C>T; p.P69L; 18:31326995-31326995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2077T>G; p.F693V; 18:31346175-31346175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2450G>T; p.G817V; 18:31354646-31354646	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>C; p.G462A; 18:31338434-31338434	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1468G>A; p.D490N; 18:31339806-31339806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3066C>T; p.H1022H; 18:31355262-31355262	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2176G>C; p.V726L; 18:31354372-31354372	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.688T>C; p.Y230H; 18:31333592-31333592	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.210C>T; p.I70I; 18:31326999-31326999	skin	malignant_melanoma	Substitution - coding silent
c.561G>A; p.P187P; 18:31331744-31331744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2398_2399insC; p.H802fs*10; 18:31354594-31354595	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2432A>G; p.E811G; 18:31354628-31354628	meninges	meningioma; secretory	Substitution - Missense
c.1405+1G>A; p.?; 18:31338455-31338455	skin	malignant_melanoma	Unknown
c.1405+1G>A; p.?; 18:31338455-31338455	skin	malignant_melanoma	Unknown
c.732C>T; p.G244G; 18:31333636-31333636	thyroid	other; neoplasm	Substitution - coding silent
c.808G>A; p.E270K; 18:31333712-31333712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2393C>A; p.P798Q; 18:31354589-31354589	skin	malignant_melanoma	Substitution - Missense
c.2960G>A; p.G987E; 18:31355156-31355156	skin	malignant_melanoma	Substitution - Missense
c.2001G>T; p.E667D; 18:31346099-31346099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.638G>A; p.R213K; 18:31331821-31331821	skin; trunk	malignant_melanoma	Substitution - Missense
c.3106C>T; p.R1036*; 18:31355302-31355302	skin	malignant_melanoma	Substitution - Nonsense
c.2799G>A; p.M933I; 18:31354995-31354995	skin	malignant_melanoma	Substitution - Missense
c.266G>C; p.G89A; 18:31328238-31328238	urinary_tract; bladder	carcinoma	Substitution - Missense
c.169G>A; p.A57T; 18:31326958-31326958	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2669C>T; p.S890L; 18:31354865-31354865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1723G>A; p.G575S; 18:31343485-31343485	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.461C>T; p.P154L; 18:31329980-31329980	skin	malignant_melanoma	Substitution - Missense
c.1464T>C; p.N488N; 18:31339802-31339802	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1613A>C; p.D538A; 18:31339951-31339951	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2296G>T; p.E766*; 18:31354492-31354492	skin	malignant_melanoma	Substitution - Nonsense
c.232G>T; p.A78S; 18:31328204-31328204	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1774G>A; p.G592R; 18:31343536-31343536	skin	malignant_melanoma	Substitution - Missense
c.2505C>T; p.V835V; 18:31354701-31354701	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1283A>T; p.N428I; 18:31338332-31338332	skin	malignant_melanoma	Substitution - Missense
c.2699C>A; p.A900E; 18:31354895-31354895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1883A>G; p.D628G; 18:31343987-31343987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2456G>C; p.G819A; 18:31354652-31354652	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1272A>C; p.V424V; 18:31338321-31338321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2132G>A; p.G711E; 18:31354328-31354328	skin	malignant_melanoma	Substitution - Missense
c.1958G>C; p.G653A; 18:31346056-31346056	breast	carcinoma	Substitution - Missense
c.1318G>A; p.G440S; 18:31338367-31338367	skin	malignant_melanoma	Substitution - Missense
c.856A>T; p.N286Y; 18:31334053-31334053	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2029A>T; p.R677*; 18:31346127-31346127	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1622C>G; p.S541*; 18:31339960-31339960	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.856A>T; p.N286Y; 18:31334053-31334053	central_nervous_system; brain	glioma	Substitution - Missense
c.1935G>A; p.L645L; 18:31346033-31346033	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.2569C>T; p.R857*; 18:31354765-31354765	pancreas	carcinoma	Substitution - Nonsense
c.2569C>T; p.R857*; 18:31354765-31354765	pancreas	carcinoma	Substitution - Nonsense
c.1199C>T; p.S400L; 18:31336547-31336547	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1933C>A; p.L645M; 18:31346031-31346031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2764G>A; p.V922M; 18:31354960-31354960	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1438A>C; p.N480H; 18:31339776-31339776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1188T>G; p.G396G; 18:31336536-31336536	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1243G>A; p.G415S; 18:31336591-31336591	liver	carcinoma	Substitution - Missense
c.509C>A; p.S170Y; 18:31330028-31330028	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.509C>A; p.S170Y; 18:31330028-31330028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1840C>T; p.P614S; 18:31343944-31343944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2401C>A; p.P801T; 18:31354597-31354597	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2775A>G; p.R925R; 18:31354971-31354971	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2607C>T; p.V869V; 18:31354803-31354803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569C>T; p.D523D; 18:31339907-31339907	kidney	other; neoplasm	Substitution - coding silent
c.1976G>A; p.G659E; 18:31346074-31346074	skin	malignant_melanoma	Substitution - Missense
c.1907A>T; p.E636V; 18:31346005-31346005	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.599G>T; p.R200I; 18:31331782-31331782	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3053C>T; p.S1018F; 18:31355249-31355249	NS	malignant_melanoma	Substitution - Missense
c.935G>A; p.G312E; 18:31334132-31334132	skin	malignant_melanoma	Substitution - Missense
c.3107G>A; p.R1036Q; 18:31355303-31355303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2383G>A; p.G795R; 18:31354579-31354579	skin; trunk	malignant_melanoma	Substitution - Missense
c.3107G>A; p.R1036Q; 18:31355303-31355303	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.985G>T; p.G329*; 18:31334182-31334182	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1674C>A; p.F558L; 18:31340012-31340012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2819A>C; p.H940P; 18:31355015-31355015	breast	carcinoma	Substitution - Missense
c.2907G>A; p.G969G; 18:31355103-31355103	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1546G>A; p.D516N; 18:31339884-31339884	skin	malignant_melanoma	Substitution - Missense
c.1313G>T; p.R438I; 18:31338362-31338362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1075C>T; p.H359Y; 18:31336423-31336423	skin	malignant_melanoma	Substitution - Missense
c.1075C>T; p.H359Y; 18:31336423-31336423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.233C>A; p.A78D; 18:31328205-31328205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2291G>A; p.G764E; 18:31354487-31354487	skin	malignant_melanoma	Substitution - Missense
c.1546G>A; p.D516N; 18:31339884-31339884	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2169C>T; p.I723I; 18:31354365-31354365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2169C>T; p.I723I; 18:31354365-31354365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.735G>T; p.G245G; 18:31333639-31333639	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2043G>C; p.M681I; 18:31346141-31346141	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2277A>T; p.A759A; 18:31354473-31354473	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1473G>C; p.R491S; 18:31339811-31339811	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.692G>A; p.G231D; 18:31333596-31333596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.974G>T; p.R325I; 18:31334171-31334171	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.974G>T; p.R325I; 18:31334171-31334171	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2649G>T; p.M883I; 18:31354845-31354845	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.658A>G; p.T220A; 18:31331841-31331841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2522A>T; p.Y841F; 18:31354718-31354718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1704G>A; p.M568I; 18:31343466-31343466	skin	malignant_melanoma	Substitution - Missense
c.2241C>A; p.F747L; 18:31354437-31354437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.608C>T; p.P203L; 18:31331791-31331791	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.48+9A>G; p.?; 18:31318357-31318357	liver	carcinoma	Unknown
c.3051T>C; p.S1017S; 18:31355247-31355247	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2120A>G; p.D707G; 18:31354316-31354316	NS	NS	Substitution - Missense
c.1783C>T; p.H595Y; 18:31343545-31343545	skin	malignant_melanoma	Substitution - Missense
c.1783C>T; p.H595Y; 18:31343545-31343545	skin	malignant_melanoma	Substitution - Missense
c.2778A>G; p.V926V; 18:31354974-31354974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2580A>G; p.S860S; 18:31354776-31354776	central_nervous_system; brain	glioma	Substitution - coding silent
c.252A>T; p.T84T; 18:31328224-31328224	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2769A>C; p.T923T; 18:31354965-31354965	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1783C>T; p.H595Y; 18:31343545-31343545	skin	malignant_melanoma	Substitution - Missense
c.2973G>T; p.L991L; 18:31355169-31355169	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2616C>A; p.I872I; 18:31354812-31354812	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.835C>T; p.Q279*; 18:31334032-31334032	skin	malignant_melanoma	Substitution - Nonsense
c.2770G>A; p.E924K; 18:31354966-31354966	skin	malignant_melanoma	Substitution - Missense
c.2770G>A; p.E924K; 18:31354966-31354966	skin	malignant_melanoma	Substitution - Missense
c.146G>A; p.R49H; 18:31326935-31326935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1798G>C; p.E600Q; 18:31343560-31343560	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3106C>A; p.R1036R; 18:31355302-31355302	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.146G>A; p.R49H; 18:31326935-31326935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.986G>A; p.G329E; 18:31334183-31334183	skin	malignant_melanoma	Substitution - Missense
c.865G>A; p.E289K; 18:31334062-31334062	skin	malignant_melanoma	Substitution - Missense
c.1121T>C; p.V374A; 18:31336469-31336469	skin	malignant_melanoma	Substitution - Missense
c.406G>T; p.D136Y; 18:31329925-31329925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2906G>A; p.G969E; 18:31355102-31355102	skin	malignant_melanoma	Substitution - Missense
c.2422G>T; p.V808L; 18:31354618-31354618	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2906G>A; p.G969E; 18:31355102-31355102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2824G>A; p.E942K; 18:31355020-31355020	skin	malignant_melanoma	Substitution - Missense
c.2824G>A; p.E942K; 18:31355020-31355020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.290A>T; p.Y97F; 18:31328262-31328262	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]