Entrez Gene

Basic Information
Gene ID	1756
Name	DMD
Synonymous	dystrophin;DMD;dystrophin
Definition	-
Position	Xp21.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3197G>A; p.R1066H; 23:31147495-31147495	pancreas	carcinoma	Substitution - Missense
c.3208C>A; p.Q1070K; 23:31147484-31147484	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3197G>A; p.R1066H; 23:31147495-31147495	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3197G>A; p.R1066H; 23:31147495-31147495	pancreas	carcinoma	Substitution - Missense
c.3197G>A; p.R1066H; 23:31147495-31147495	pancreas	carcinoma	Substitution - Missense
c.2449G>A; p.E817K; 23:31182883-31182883	skin	malignant_melanoma	Substitution - Missense
c.1803G>T; p.W601C; 23:31323639-31323639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1220A>G; p.E407G; 23:31479051-31479051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>T; p.E69*; 23:31729706-31729706	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.115A>T; p.M39L; 23:31774007-31774007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>T; p.E69*; 23:31729706-31729706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2061C>A; p.I687I; 23:31209620-31209620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1093G>A; p.D365N; 23:31496862-31496862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2189G>A; p.R730Q; 23:31206662-31206662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2843+1G>T; p.?; 23:31178668-31178668	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2189G>A; p.R730Q; 23:31206662-31206662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1619G>A; p.R540H; 23:31444566-31444566	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1619G>A; p.R540H; 23:31444566-31444566	breast	carcinoma	Substitution - Missense
c.1619G>A; p.R540H; 23:31444566-31444566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1165A>G; p.R389G; 23:31496790-31496790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3368A>G; p.N1123S; 23:31147324-31147324	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2194G>T; p.G732W; 23:31206657-31206657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3216A>G; p.E1072E; 23:31147476-31147476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.799G>T; p.D267Y; 23:31627711-31627711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2008T>G; p.C670G; 23:31209673-31209673	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.3464C>T; p.S1155F; 23:31146368-31146368	liver	carcinoma	Substitution - Missense
c.1432G>A; p.E478K; 23:31478231-31478231	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3464C>T; p.S1155F; 23:31146368-31146368	liver	carcinoma	Substitution - Missense
c.255G>T; p.E85D; 23:31729656-31729656	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.54T>C; p.A18A; 23:31774068-31774068	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3345G>T; p.R1115S; 23:31147347-31147347	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1968G>A; p.Q656Q; 23:31223060-31223060	breast	carcinoma	Substitution - coding silent
c.468C>T; p.I156I; 23:31679399-31679399	skin	malignant_melanoma	Substitution - coding silent
c.1507G>A; p.V503M; 23:31478156-31478156	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1507G>A; p.V503M; 23:31478156-31478156	pancreas	carcinoma	Substitution - Missense
c.2384G>A; p.G795E; 23:31204004-31204004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1507G>A; p.V503M; 23:31478156-31478156	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1471C>T; p.R491C; 23:31478192-31478192	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.493-1G>T; p.?; 23:31658145-31658145	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1866C>A; p.C622*; 23:31260995-31260995	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2564T>A; p.I855N; 23:31182768-31182768	breast	carcinoma	Substitution - Missense
c.1471C>T; p.R491C; 23:31478192-31478192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.162+5G>A; p.?; 23:31773955-31773955	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.349G>A; p.E117K; 23:31679518-31679518	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.492G>T; p.K164N; 23:31679375-31679375	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3612C>A; p.N1204K; 23:31134124-31134124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1310C>A; p.A437D; 23:31478353-31478353	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2430T>G; p.A810A; 23:31182902-31182902	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3310C>A; p.L1104I; 23:31147382-31147382	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.217G>A; p.A73T; 23:31729694-31729694	ovary	other; neoplasm	Substitution - Missense
c.217G>A; p.A73T; 23:31729694-31729694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2705C>T; p.P902L; 23:31180371-31180371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.15G>T; p.L5F; 23:31774107-31774107	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.895A>G; p.S299G; 23:31507396-31507396	breast	carcinoma	Substitution - Missense
c.706_707insC; p.L236fs*14; 23:31627803-31627804	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3123G>A; p.E1041E; 23:31169493-31169493	oesophagus	carcinoma	Substitution - coding silent
c.2867G>T; p.W956L; 23:31177947-31177947	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1109G>A; p.R370Q; 23:31496846-31496846	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1570G>T; p.E524*; 23:31444615-31444615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.702C>T; p.F234F; 23:31627808-31627808	skin	malignant_melanoma	Substitution - coding silent
c.1289-1G>A; p.?; 23:31478375-31478375	lung	carcinoma; adenocarcinoma	Unknown
c.526A>C; p.N176H; 23:31658111-31658111	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1300G>T; p.E434*; 23:31478363-31478363	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2611C>A; p.H871N; 23:31180465-31180465	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3541+5G>A; p.?; 23:31146286-31146286	bone; tibia	chondrosarcoma	Unknown
c.1321A>G; p.T441A; 23:31478342-31478342	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1321A>G; p.T441A; 23:31478342-31478342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3263C>T; p.T1088I; 23:31147429-31147429	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.892A>G; p.N298D; 23:31507399-31507399	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.293A>G; p.Q98R; 23:31679574-31679574	breast	carcinoma	Substitution - Missense
c.1672G>A; p.E558K; 23:31444513-31444513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2855T>G; p.L952R; 23:31177959-31177959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2761C>T; p.R921*; 23:31178751-31178751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2001A>T; p.S667S; 23:31209680-31209680	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2269+7C>T; p.?; 23:31206575-31206575	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.992_1001del10; p.K331fs*30; 23:31507290-31507299	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2784G>A; p.K928K; 23:31178728-31178728	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1507G>T; p.V503L; 23:31478156-31478156	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2219A>C; p.K740T; 23:31206632-31206632	breast	carcinoma	Substitution - Missense
c.1378C>T; p.L460L; 23:31478285-31478285	pancreas	carcinoma	Substitution - coding silent
c.2759T>G; p.F920C; 23:31178753-31178753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3575C>T; p.T1192I; 23:31134161-31134161	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1110G>A; p.R370R; 23:31496845-31496845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2882+1G>A; p.?; 23:31177931-31177931	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3388T>A; p.L1130I; 23:31147304-31147304	skin	malignant_melanoma	Substitution - Missense
c.3664G>C; p.E1222Q; 23:31126644-31126644	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1027A>G; p.S343G; 23:31496928-31496928	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1844+1G>T; p.?; 23:31323597-31323597	endometrium	carcinoma; serous_carcinoma	Unknown
c.973A>T; p.K325*; 23:31507318-31507318	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3365A>G; p.H1122R; 23:31147327-31147327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.51G>A; p.R17R; 23:31774071-31774071	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3318T>C; p.R1106R; 23:31147374-31147374	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.51G>A; p.R17R; 23:31774071-31774071	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3318T>C; p.R1106R; 23:31147374-31147374	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3318T>C; p.R1106R; 23:31147374-31147374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3318T>C; p.R1106R; 23:31147374-31147374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3094G>A; p.A1032T; 23:31169522-31169522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.313C>G; p.Q105E; 23:31679554-31679554	thyroid	other; neoplasm	Substitution - Missense
c.1513G>A; p.D505N; 23:31478150-31478150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1533C>G; p.L511L; 23:31478130-31478130	breast	carcinoma	Substitution - coding silent
c.1325G>A; p.R442Q; 23:31478338-31478338	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2843C>A; p.T948N; 23:31178669-31178669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1305G>C; p.E435D; 23:31478358-31478358	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.307G>A; p.E103K; 23:31679560-31679560	breast	carcinoma	Substitution - Missense
c.1417C>A; p.L473I; 23:31478246-31478246	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.3311T>C; p.L1104P; 23:31147381-31147381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1784C>T; p.T595M; 23:31323658-31323658	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2946C>A; p.S982R; 23:31173541-31173541	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1326G>T; p.R442R; 23:31478337-31478337	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3087T>C; p.R1029R; 23:31169529-31169529	pancreas	carcinoma	Substitution - coding silent
c.3087T>C; p.R1029R; 23:31169529-31169529	pancreas	carcinoma	Substitution - coding silent
c.2792G>A; p.R931Q; 23:31178720-31178720	skin	malignant_melanoma	Substitution - Missense
c.2792G>A; p.R931Q; 23:31178720-31178720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2792G>A; p.R931Q; 23:31178720-31178720	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2792G>A; p.R931Q; 23:31178720-31178720	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1228C>T; p.R410*; 23:31479043-31479043	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2657T>C; p.V886A; 23:31180419-31180419	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.375G>A; p.W125*; 23:31679492-31679492	skin	malignant_melanoma	Substitution - Nonsense
c.302G>C; p.W101S; 23:31679565-31679565	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2036A>G; p.K679R; 23:31209645-31209645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1492G>T; p.G498*; 23:31478171-31478171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2287G>A; p.A763T; 23:31204101-31204101	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3073delC; p.L1025fs*1; 23:31169543-31169543	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2287G>A; p.A763T; 23:31204101-31204101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1531C>G; p.L511V; 23:31478132-31478132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3278C>T; p.P1093L; 23:31147414-31147414	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2204G>A; p.R735H; 23:31206647-31206647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.332G>A; p.R111Q; 23:31679535-31679535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2204G>A; p.R735H; 23:31206647-31206647	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3617C>G; p.S1206C; 23:31134119-31134119	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.676G>T; p.E226*; 23:31627834-31627834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3661A>G; p.R1221G; 23:31126647-31126647	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.555G>A; p.L185L; 23:31658082-31658082	breast	carcinoma	Substitution - coding silent
c.1608T>C; p.N536N; 23:31444577-31444577	skin	malignant_melanoma	Substitution - coding silent
c.3137T>A; p.L1046Q; 23:31169479-31169479	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3G>A; p.M1I; 23:31774119-31774119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.40G>T; p.D14Y; 23:31774082-31774082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1578G>A; p.A526A; 23:31444607-31444607	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.992_1002del11; p.K332fs*2; 23:31507289-31507299	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1652C>T; p.P551L; 23:31444533-31444533	skin	malignant_melanoma	Substitution - Missense
c.272C>T; p.T91M; 23:31729639-31729639	central_nervous_system; brain	glioma	Substitution - Missense
c.3336G>A; p.L1112L; 23:31147356-31147356	skin	malignant_melanoma	Substitution - coding silent
c.719A>C; p.K240T; 23:31627791-31627791	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1817C>T; p.S606L; 23:31323625-31323625	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1328T>G; p.L443R; 23:31478335-31478335	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.272C>T; p.T91M; 23:31729639-31729639	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1817C>T; p.S606L; 23:31323625-31323625	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.272C>T; p.T91M; 23:31729639-31729639	prostate	carcinoma	Substitution - Missense
c.272C>T; p.T91M; 23:31729639-31729639	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.272C>T; p.T91M; 23:31729639-31729639	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.88G>A; p.D30N; 23:31774034-31774034	breast	carcinoma	Substitution - Missense
c.268A>C; p.I90L; 23:31729643-31729643	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3585G>A; p.G1195G; 23:31134151-31134151	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.1748_1749GG>AA; p.R583K; 23:31348590-31348591	NS	malignant_melanoma	Substitution - Missense
c.1685C>A; p.T562N; 23:31444500-31444500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.191G>A; p.R64H; 23:31729720-31729720	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.808G>A; p.G270R; 23:31627702-31627702	skin	malignant_melanoma	Substitution - Missense
c.191G>A; p.R64H; 23:31729720-31729720	pancreas	carcinoma	Substitution - Missense
c.623C>G; p.A208G; 23:31658014-31658014	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1848C>G; p.H616Q; 23:31261013-31261013	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.241A>G; p.T81A; 23:31729670-31729670	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2728C>T; p.R910*; 23:31178784-31178784	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3351A>C; p.Q1117H; 23:31147341-31147341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2788C>T; p.P930S; 23:31178724-31178724	skin	malignant_melanoma	Substitution - Missense
c.1470G>A; p.L490L; 23:31478193-31478193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1220A>T; p.E407V; 23:31479051-31479051	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1901C>A; p.S634Y; 23:31260960-31260960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.50G>A; p.R17Q; 23:31774072-31774072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.665C>A; p.A222D; 23:31627845-31627845	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.686G>C; p.R229T; 23:31627824-31627824	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1603G>A; p.V535I; 23:31444582-31444582	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2204G>C; p.R735P; 23:31206647-31206647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1108C>T; p.R370W; 23:31496847-31496847	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1108C>T; p.R370W; 23:31496847-31496847	skin	malignant_melanoma	Substitution - Missense
c.1558-1G>A; p.?; 23:31444628-31444628	skin	malignant_melanoma	Unknown
c.3623C>T; p.P1208L; 23:31134113-31134113	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1219G>T; p.E407*; 23:31479052-31479052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.950G>T; p.R317I; 23:31507341-31507341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3279C>A; p.P1093P; 23:31147413-31147413	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2392A>G; p.N798D; 23:31203996-31203996	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1928T>G; p.F643C; 23:31223100-31223100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2509G>A; p.V837I; 23:31182823-31182823	breast	carcinoma	Substitution - Missense
c.810A>T; p.G270G; 23:31627700-31627700	skin	malignant_melanoma	Substitution - coding silent
c.3621C>A; p.F1207L; 23:31134115-31134115	breast	carcinoma	Substitution - Missense
c.1804G>A; p.E602K; 23:31323638-31323638	skin	malignant_melanoma	Substitution - Missense
c.3214G>A; p.E1072K; 23:31147478-31147478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2050C>T; p.P684S; 23:31209631-31209631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1219G>A; p.E407K; 23:31479052-31479052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.816A>C; p.K272N; 23:31627694-31627694	urinary_tract; bladder	carcinoma	Substitution - Missense
c.234A>G; p.K78K; 23:31729677-31729677	central_nervous_system; brain	glioma	Substitution - coding silent
c.1334G>A; p.R445Q; 23:31478329-31478329	skin; trunk	malignant_melanoma	Substitution - Missense
c.1559C>T; p.A520V; 23:31444626-31444626	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2835C>A; p.N945K; 23:31178677-31178677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2409C>T; p.V803V; 23:31203979-31203979	skin	malignant_melanoma	Substitution - coding silent
c.2955A>G; p.A985A; 23:31172407-31172407	skin	malignant_melanoma	Substitution - coding silent
c.3488G>A; p.S1163N; 23:31146344-31146344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1966C>A; p.Q656K; 23:31223062-31223062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1204A>T; p.I402F; 23:31479067-31479067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2619T>A; p.N873K; 23:31180457-31180457	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2203delC; p.R735fs*88; 23:31206648-31206648	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3317G>A; p.R1106H; 23:31147375-31147375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3317G>A; p.R1106H; 23:31147375-31147375	pancreas	carcinoma	Substitution - Missense
c.277C>T; p.R93*; 23:31729634-31729634	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.838-10T>G; p.?; 23:31507463-31507463	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.277C>T; p.R93*; 23:31729634-31729634	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.277C>T; p.R93*; 23:31729634-31729634	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.277C>T; p.R93*; 23:31729634-31729634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1513G>T; p.D505Y; 23:31478150-31478150	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2379C>A; p.S793S; 23:31204009-31204009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.364T>G; p.S122A; 23:31679503-31679503	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1653G>A; p.P551P; 23:31444532-31444532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080G>A; p.W360*; 23:31496875-31496875	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2935C>A; p.H979N; 23:31173552-31173552	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.459delA; p.D154fs*24; 23:31679408-31679408	skin; sole	malignant_melanoma	Deletion - Frameshift
c.3571G>C; p.D1191H; 23:31134165-31134165	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1831C>G; p.P611A; 23:31323611-31323611	breast	carcinoma	Substitution - Missense
c.486A>G; p.E162E; 23:31679381-31679381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1221G>A; p.E407E; 23:31479050-31479050	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.904delA; p.I302fs*2; 23:31507387-31507387	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3474A>G; p.L1158L; 23:31146358-31146358	liver	carcinoma	Substitution - coding silent
c.3474A>G; p.L1158L; 23:31146358-31146358	liver	carcinoma	Substitution - coding silent
c.3474A>G; p.L1158L; 23:31146358-31146358	liver	carcinoma	Substitution - coding silent
c.20T>C; p.L7S; 23:31774102-31774102	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1605C>A; p.V535V; 23:31444580-31444580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1012T>G; p.S338A; 23:31496943-31496943	liver	carcinoma	Substitution - Missense
c.917T>A; p.L306Q; 23:31507374-31507374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3470C>A; p.S1157Y; 23:31146362-31146362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2882C>T; p.A961V; 23:31177932-31177932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1161A>G; p.V387V; 23:31496794-31496794	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3407T>C; p.L1136P; 23:31147285-31147285	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1070T>G; p.L357R; 23:31496885-31496885	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1877C>A; p.P626H; 23:31260984-31260984	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1070T>G; p.L357R; 23:31496885-31496885	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1629C>A; p.T543T; 23:31444556-31444556	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1076T>G; p.V359G; 23:31496879-31496879	breast	carcinoma	Substitution - Missense
c.5C>T; p.P2L; 23:31774117-31774117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2448C>T; p.I816I; 23:31182884-31182884	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2448C>T; p.I816I; 23:31182884-31182884	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3642T>A; p.N1214K; 23:31126666-31126666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2448C>T; p.I816I; 23:31182884-31182884	skin	malignant_melanoma	Substitution - coding silent
c.1453G>A; p.E485K; 23:31478210-31478210	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.316G>C; p.E106Q; 23:31679551-31679551	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.562C>A; p.L188I; 23:31658075-31658075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1619G>T; p.R540L; 23:31444566-31444566	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.934G>T; p.A312S; 23:31507357-31507357	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.348T>C; p.N116N; 23:31679519-31679519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1107C>A; p.S369R; 23:31496848-31496848	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3238C>T; p.P1080S; 23:31147454-31147454	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1580C>A; p.P527H; 23:31444605-31444605	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1577C>T; p.A526V; 23:31444608-31444608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.767A>T; p.Q256L; 23:31627743-31627743	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3541G>T; p.G1181C; 23:31146291-31146291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1577C>T; p.A526V; 23:31444608-31444608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3617C>T; p.S1206F; 23:31134119-31134119	skin	malignant_melanoma	Substitution - Missense
c.598C>T; p.H200Y; 23:31658039-31658039	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2751A>C; p.K917N; 23:31178761-31178761	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1239G>T; p.L413L; 23:31479032-31479032	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.49C>T; p.R17W; 23:31774073-31774073	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3316C>T; p.R1106C; 23:31147376-31147376	pancreas	NS	Substitution - Missense
c.3316C>T; p.R1106C; 23:31147376-31147376	breast	carcinoma	Substitution - Missense
c.216C>T; p.T72T; 23:31729695-31729695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1399A>T; p.R467*; 23:31478264-31478264	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3316C>T; p.R1106C; 23:31147376-31147376	kidney	other; neoplasm	Substitution - Missense
c.2477G>A; p.R826K; 23:31182855-31182855	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3483C>T; p.S1161S; 23:31146349-31146349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1546G>A; p.E516K; 23:31478117-31478117	breast	carcinoma	Substitution - Missense
c.278G>A; p.R93Q; 23:31729633-31729633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.278G>A; p.R93Q; 23:31729633-31729633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.278G>A; p.R93Q; 23:31729633-31729633	breast	carcinoma	Substitution - Missense
c.2975G>T; p.G992V; 23:31172387-31172387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2836A>T; p.M946L; 23:31178676-31178676	skin	malignant_melanoma	Substitution - Missense
c.1894T>C; p.Y632H; 23:31260967-31260967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.R189W; 23:31658072-31658072	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.988C>T; p.R330W; 23:31507303-31507303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.988C>T; p.R330W; 23:31507303-31507303	breast	carcinoma	Substitution - Missense
c.2637C>A; p.S879R; 23:31180439-31180439	breast	carcinoma	Substitution - Missense
c.3449C>T; p.T1150M; 23:31146383-31146383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2267G>A; p.R756K; 23:31206584-31206584	skin	malignant_melanoma	Substitution - Missense
c.1439A>C; p.Q480P; 23:31478224-31478224	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3404A>T; p.Q1135L; 23:31147288-31147288	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.287G>T; p.R96I; 23:31679580-31679580	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.287G>T; p.R96I; 23:31679580-31679580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.706delC; p.L236fs*30; 23:31627804-31627804	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.336G>T; p.R112S; 23:31679531-31679531	oesophagus	carcinoma	Substitution - Missense
c.134A>G; p.D45G; 23:31773988-31773988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.630G>A; p.W210*; 23:31658007-31658007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.910A>T; p.R304*; 23:31507381-31507381	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1741G>A; p.A581T; 23:31348598-31348598	liver	carcinoma	Substitution - Missense
c.1859C>A; p.T620K; 23:31261002-31261002	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.972C>A; p.F324L; 23:31507319-31507319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2342C>G; p.S781C; 23:31204046-31204046	pancreas	NS	Substitution - Missense
c.1792C>T; p.Q598*; 23:31323650-31323650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2342C>G; p.S781C; 23:31204046-31204046	pancreas	carcinoma	Substitution - Missense
c.61G>A; p.E21K; 23:31774061-31774061	skin	malignant_melanoma	Substitution - Missense
c.1849G>A; p.E617K; 23:31261012-31261012	breast	carcinoma	Substitution - Missense
c.1160T>C; p.V387A; 23:31496795-31496795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.853delA; p.I285fs*19; 23:31507438-31507438	breast	carcinoma	Deletion - Frameshift
c.3645C>A; p.T1215T; 23:31126663-31126663	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2843+9T>C; p.?; 23:31178660-31178660	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2600G>T; p.R867M; 23:31180476-31180476	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2143G>T; p.V715L; 23:31209538-31209538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1400G>T; p.R467I; 23:31478263-31478263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3355C>A; p.L1119M; 23:31147337-31147337	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3062A>G; p.Q1021R; 23:31169554-31169554	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.31G>C; p.A11P; 23:31774091-31774091	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2574G>T; p.E858D; 23:31182758-31182758	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3016G>T; p.D1006Y; 23:31169600-31169600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3395G>C; p.R1132T; 23:31147297-31147297	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.141C>T; p.N47N; 23:31773981-31773981	pancreas	carcinoma	Substitution - coding silent
c.3303G>T; p.E1101D; 23:31147389-31147389	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]