Entrez Gene

Basic Information
Gene ID	81624
Name	DIAPH3
Synonymous	diaphanous-related formin 3;DIAPH3;diaphanous-related formin 3
Definition	diaphanous homolog 3\|diaphanous-related formin-3\|protein diaphanous homolog 3
Position	13q21.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.434A>T; p.E145V; 13:60093689-60093689	pancreas	carcinoma	Substitution - Missense
c.3228C>T; p.R1076R; 13:59774759-59774759	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2120A>C; p.K707T; 13:59924825-59924825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1563C>A; p.T521T; 13:59974439-59974439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3012C>G; p.F1004L; 13:59833122-59833122	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.869A>C; p.K290T; 13:60010572-60010572	skin	malignant_melanoma	Substitution - Missense
c.3012C>G; p.F1004L; 13:59833122-59833122	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1911G>T; p.K637N; 13:59970900-59970900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1734G>A; p.P578P; 13:59971077-59971077	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1734G>A; p.P578P; 13:59971077-59971077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1389G>A; p.E463E; 13:59983860-59983860	pancreas	carcinoma	Substitution - coding silent
c.1022G>T; p.C341F; 13:59992576-59992576	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.849T>A; p.N283K; 13:60010592-60010592	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3260A>G; p.D1087G; 13:59774248-59774248	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2609T>C; p.L870P; 13:59861535-59861535	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.883G>T; p.V295L; 13:60010558-60010558	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2702T>A; p.V901E; 13:59861442-59861442	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3343G>T; p.E1115*; 13:59666823-59666823	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3120C>T; p.L1040L; 13:59810831-59810831	pancreas	carcinoma	Substitution - coding silent
c.1934G>A; p.S645N; 13:59970877-59970877	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2054C>T; p.T685I; 13:59969964-59969964	breast	carcinoma	Substitution - Missense
c.3120C>T; p.L1040L; 13:59810831-59810831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1297G>A; p.A433T; 13:59991222-59991222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1218C>T; p.R406R; 13:59992094-59992094	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.780G>T; p.L260F; 13:60010661-60010661	breast	carcinoma	Substitution - Missense
c.700delA; p.I234fs*6; 13:60016072-60016072	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Deletion - Frameshift
c.1182G>A; p.E394E; 13:59992130-59992130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2003T>A; p.V668E; 13:59970015-59970015	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3135G>A; p.K1045K; 13:59810816-59810816	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.431_432GG>TT; p.R144L; 13:60093691-60093692	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.589G>A; p.E197K; 13:60042727-60042727	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.210T>C; p.D70D; 13:60132960-60132960	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1033A>T; p.I345F; 13:59992565-59992565	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.210T>C; p.D70D; 13:60132960-60132960	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3226C>T; p.R1076C; 13:59774761-59774761	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3365A>G; p.N1122S; 13:59666801-59666801	breast	carcinoma	Substitution - Missense
c.2777G>C; p.G926A; 13:59839409-59839409	liver	carcinoma	Substitution - Missense
c.2777G>C; p.G926A; 13:59839409-59839409	liver	carcinoma	Substitution - Missense
c.2750C>T; p.T917M; 13:59839436-59839436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1498G>T; p.A500S; 13:59980842-59980842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.282G>T; p.K94N; 13:60112118-60112118	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1906C>G; p.P636A; 13:59970905-59970905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1838C>T; p.P613L; 13:59970973-59970973	skin	malignant_melanoma	Substitution - Missense
c.2487G>T; p.E829D; 13:59879349-59879349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2532G>T; p.L844F; 13:59879304-59879304	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2121A>C; p.K707N; 13:59924824-59924824	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1948A>C; p.N650H; 13:59970863-59970863	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2111C>T; p.S704L; 13:59924834-59924834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1212C>T; p.S404S; 13:59992100-59992100	skin	malignant_melanoma	Substitution - coding silent
c.2692C>T; p.L898L; 13:59861452-59861452	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.3339G>A; p.L1113L; 13:59666827-59666827	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3426T>G; p.T1142T; 13:59666740-59666740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3288T>G; p.S1096S; 13:59774220-59774220	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.3291G>A; p.Q1097Q; 13:59774217-59774217	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1845C>T; p.P615P; 13:59970966-59970966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1444C>A; p.R482R; 13:59983805-59983805	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3291G>A; p.Q1097Q; 13:59774217-59774217	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3187G>A; p.D1063N; 13:59774800-59774800	breast	carcinoma	Substitution - Missense
c.3291G>A; p.Q1097Q; 13:59774217-59774217	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3291G>A; p.Q1097Q; 13:59774217-59774217	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3291G>A; p.Q1097Q; 13:59774217-59774217	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2350G>A; p.E784K; 13:59911752-59911752	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>A; p.R172Q; 13:60042801-60042801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.336C>A; p.N112K; 13:60112064-60112064	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2904G>A; p.S968S; 13:59833230-59833230	breast	carcinoma	Substitution - coding silent
c.1934G>C; p.S645T; 13:59970877-59970877	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3125G>A; p.R1042H; 13:59810826-59810826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.958delA; p.I320fs*20; 13:60008600-60008600	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.958delA; p.I320fs*20; 13:60008600-60008600	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2904G>A; p.S968S; 13:59833230-59833230	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2249C>T; p.A750V; 13:59916171-59916171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2059T>A; p.C687S; 13:59969959-59969959	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2581G>A; p.G861R; 13:59879255-59879255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.768G>A; p.T256T; 13:60015916-60015916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.750A>G; p.L250L; 13:60015934-60015934	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2026G>C; p.V676L; 13:59969992-59969992	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.173C>T; p.P58L; 13:60163594-60163594	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.495+3A>G; p.?; 13:60093625-60093625	liver	carcinoma	Unknown
c.495+3A>G; p.?; 13:60093625-60093625	liver	carcinoma	Unknown
c.3191A>T; p.N1064I; 13:59774796-59774796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1361+1G>A; p.?; 13:59991157-59991157	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.963C>T; p.D321D; 13:60008595-60008595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2880A>C; p.A960A; 13:59833254-59833254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2094T>C; p.D698D; 13:59924851-59924851	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3503C>T; p.T1168M; 13:59666663-59666663	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2814C>A; p.T938T; 13:59839372-59839372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.909-3T>A; p.?; 13:60008652-60008652	parathyroid	carcinoma	Unknown
c.892G>A; p.V298I; 13:60010549-60010549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 13:59666709-59666709	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3042G>T; p.E1014D; 13:59810909-59810909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3042G>T; p.E1014D; 13:59810909-59810909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1636G>A; p.A546T; 13:59974366-59974366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.512G>A; p.S171N; 13:60042804-60042804	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1876C>T; p.P626S; 13:59970935-59970935	breast	carcinoma	Substitution - Missense
c.3260-6delT; p.?; 13:59774254-59774254	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.736G>T; p.V246F; 13:60015948-60015948	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1001C>A; p.S334*; 13:60008557-60008557	skin	malignant_melanoma	Substitution - Nonsense
c.1531G>T; p.E511*; 13:59980809-59980809	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.744G>A; p.Q248Q; 13:60015940-60015940	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1886T>C; p.I629T; 13:59970925-59970925	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.146G>A; p.G49D; 13:60163621-60163621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3336G>T; p.Q1112H; 13:59666830-59666830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1557G>C; p.E519D; 13:59974445-59974445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2482G>A; p.E828K; 13:59879354-59879354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2482G>A; p.E828K; 13:59879354-59879354	breast	carcinoma	Substitution - Missense
c.3509T>G; p.L1170R; 13:59666657-59666657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2991T>C; p.F997F; 13:59833143-59833143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.262C>T; p.P88S; 13:60112138-60112138	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2991T>C; p.F997F; 13:59833143-59833143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2364T>C; p.V788V; 13:59911738-59911738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.150delC; p.E51fs*12; 13:60163617-60163617	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.738C>T; p.V246V; 13:60015946-60015946	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.1237G>A; p.E413K; 13:59992075-59992075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2904G>T; p.S968S; 13:59833230-59833230	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2983G>A; p.E995K; 13:59833151-59833151	skin	malignant_melanoma	Substitution - Missense
c.1415G>T; p.R472I; 13:59983834-59983834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3248C>T; p.P1083L; 13:59774739-59774739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3571C>T; p.R1191*; 13:59666595-59666595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2770C>T; p.Q924*; 13:59839416-59839416	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1755_1756insT; p.G586fs*56; 13:59971055-59971056	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.118G>A; p.G40S; 13:60163649-60163649	skin	malignant_melanoma	Substitution - Missense
c.3229G>T; p.D1077Y; 13:59774758-59774758	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.958_959insA; p.I320fs*2; 13:60008599-60008600	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.361G>T; p.E121*; 13:60112039-60112039	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.366C>T; p.L122L; 13:60112034-60112034	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1316C>T; p.S439F; 13:59991203-59991203	skin	malignant_melanoma	Substitution - Missense
c.3566G>C; p.R1189T; 13:59666600-59666600	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2389C>T; p.R797W; 13:59879447-59879447	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2843A>C; p.K948T; 13:59839343-59839343	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3369C>A; p.I1123I; 13:59666797-59666797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3498G>A; p.K1166K; 13:59666668-59666668	skin	malignant_melanoma	Substitution - coding silent
c.506A>C; p.K169T; 13:60042810-60042810	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2629G>A; p.D877N; 13:59861515-59861515	skin	malignant_melanoma	Substitution - Missense
c.3151G>T; p.E1051*; 13:59810800-59810800	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1054C>T; p.P352S; 13:59992544-59992544	pancreas	carcinoma	Substitution - Missense
c.2563C>T; p.R855W; 13:59879273-59879273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1241T>C; p.L414P; 13:59992071-59992071	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.904A>C; p.S302R; 13:60010537-60010537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.878C>T; p.S293F; 13:60010563-60010563	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3296C>A; p.P1099H; 13:59774212-59774212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2125delA; p.I709fs*7; 13:59924820-59924820	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2989T>A; p.F997I; 13:59833145-59833145	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2672A>C; p.E891A; 13:59861472-59861472	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3511C>T; p.L1171F; 13:59666655-59666655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1291A>G; p.T431A; 13:59991228-59991228	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3407T>C; p.L1136P; 13:59666759-59666759	skin	malignant_melanoma	Substitution - Missense
c.450C>G; p.I150M; 13:60093673-60093673	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3249G>A; p.P1083P; 13:59774738-59774738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3249G>A; p.P1083P; 13:59774738-59774738	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2461A>G; p.M821V; 13:59879375-59879375	skin	malignant_melanoma	Substitution - Missense
c.3031G>A; p.A1011T; 13:59810920-59810920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3031G>A; p.A1011T; 13:59810920-59810920	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2722G>C; p.D908H; 13:59861422-59861422	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1924C>T; p.P642S; 13:59970887-59970887	liver	carcinoma	Substitution - Missense
c.2131G>T; p.E711*; 13:59924814-59924814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1832C>T; p.P611L; 13:59970979-59970979	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2650C>T; p.H884Y; 13:59861494-59861494	skin	malignant_melanoma	Substitution - Missense
c.3270G>A; p.Q1090Q; 13:59774238-59774238	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1322T>G; p.L441R; 13:59991197-59991197	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2903C>T; p.S968L; 13:59833231-59833231	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2903C>T; p.S968L; 13:59833231-59833231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2194G>T; p.V732L; 13:59916226-59916226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.586C>A; p.L196M; 13:60042730-60042730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2820C>A; p.P940P; 13:59839366-59839366	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1843C>A; p.P615T; 13:59970968-59970968	urinary_tract; bladder	carcinoma	Substitution - Missense
c.148C>T; p.P50S; 13:60163619-60163619	skin	malignant_melanoma	Substitution - Missense
c.636A>C; p.E212D; 13:60016136-60016136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2914G>A; p.E972K; 13:59833220-59833220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.697A>C; p.K233Q; 13:60016075-60016075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2914G>A; p.E972K; 13:59833220-59833220	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.876C>A; p.L292L; 13:60010565-60010565	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.780_781insT; p.E261fs*1; 13:60010660-60010661	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.1083C>T; p.I361I; 13:59992515-59992515	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1650+1G>A; p.?; 13:59974351-59974351	skin	malignant_melanoma	Unknown
c.2203G>T; p.E735*; 13:59916217-59916217	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2989T>C; p.F997L; 13:59833145-59833145	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2989T>C; p.F997L; 13:59833145-59833145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1049C>T; p.T350I; 13:59992549-59992549	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2989T>C; p.F997L; 13:59833145-59833145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2989T>C; p.F997L; 13:59833145-59833145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2039G>C; p.C680S; 13:59969979-59969979	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2989T>C; p.F997L; 13:59833145-59833145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2438T>G; p.V813G; 13:59879398-59879398	skin	malignant_melanoma	Substitution - Missense
c.1357A>G; p.I453V; 13:59991162-59991162	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.121C>T; p.P41S; 13:60163646-60163646	liver	carcinoma	Substitution - Missense
c.786A>G; p.R262R; 13:60010655-60010655	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.121C>T; p.P41S; 13:60163646-60163646	liver	carcinoma	Substitution - Missense
c.544G>T; p.E182*; 13:60042772-60042772	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1288G>T; p.E430*; 13:59991231-59991231	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1265A>G; p.N422S; 13:59991254-59991254	skin; trunk	malignant_melanoma	Substitution - Missense
c.499A>C; p.S167R; 13:60042817-60042817	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2800A>T; p.K934*; 13:59839386-59839386	liver	carcinoma	Substitution - Nonsense
c.1288G>T; p.E430*; 13:59991231-59991231	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.514C>T; p.R172*; 13:60042802-60042802	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2643G>A; p.T881T; 13:59861501-59861501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2534T>C; p.L845P; 13:59879302-59879302	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2678A>T; p.K893M; 13:59861466-59861466	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3312T>C; p.C1104C; 13:59774196-59774196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2534T>C; p.L845P; 13:59879302-59879302	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.806G>A; p.S269N; 13:60010635-60010635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.132T>C; p.P44P; 13:60163635-60163635	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.324G>A; p.E108E; 13:60112076-60112076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2222T>C; p.I741T; 13:59916198-59916198	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3265C>T; p.R1089W; 13:59774243-59774243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2737+10T>C; p.?; 13:59861397-59861397	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3265C>T; p.R1089W; 13:59774243-59774243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1752T>G; p.G584G; 13:59971059-59971059	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.694G>A; p.G232R; 13:60016078-60016078	liver	carcinoma	Substitution - Missense
c.2597C>T; p.S866F; 13:59879239-59879239	skin	malignant_melanoma	Substitution - Missense
c.694G>A; p.G232R; 13:60016078-60016078	liver	carcinoma	Substitution - Missense
c.973_974insT; p.C325fs*29; 13:60008584-60008585	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.2563C>A; p.R855R; 13:59879273-59879273	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2659G>A; p.V887I; 13:59861485-59861485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1718C>T; p.S573L; 13:59971093-59971093	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.275A>C; p.N92T; 13:60112125-60112125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2818C>T; p.P940S; 13:59839368-59839368	skin	malignant_melanoma	Substitution - Missense
c.2818C>T; p.P940S; 13:59839368-59839368	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2819C>A; p.P940H; 13:59839367-59839367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.654G>T; p.G218G; 13:60016118-60016118	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3058G>C; p.E1020Q; 13:59810893-59810893	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.368T>C; p.L123S; 13:60112032-60112032	liver	carcinoma	Substitution - Missense
c.368T>C; p.L123S; 13:60112032-60112032	liver	carcinoma	Substitution - Missense
c.1782A>C; p.P594P; 13:59971029-59971029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2546A>G; p.Y849C; 13:59879290-59879290	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1932C>G; p.I644M; 13:59970879-59970879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.770A>T; p.Q257L; 13:60015914-60015914	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3427C>T; p.H1143Y; 13:59666739-59666739	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3204C>A; p.A1068A; 13:59774783-59774783	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1045G>C; p.V349L; 13:59992553-59992553	skin	malignant_melanoma	Substitution - Missense
c.546G>C; p.E182D; 13:60042770-60042770	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1807C>T; p.R603W; 13:59971004-59971004	ovary	other; neoplasm	Substitution - Missense
c.343A>G; p.K115E; 13:60112057-60112057	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.952A>C; p.K318Q; 13:60008606-60008606	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.771+2T>C; p.?; 13:60015911-60015911	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2390G>T; p.R797L; 13:59879446-59879446	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3166G>A; p.G1056S; 13:59774821-59774821	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1925C>A; p.P642H; 13:59970886-59970886	skin	malignant_melanoma	Substitution - Missense
c.1343G>A; p.R448Q; 13:59991176-59991176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617A>G; p.N206S; 13:60042699-60042699	liver	carcinoma	Substitution - Missense
c.617A>G; p.N206S; 13:60042699-60042699	liver	carcinoma	Substitution - Missense
c.1343G>A; p.R448Q; 13:59991176-59991176	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.612_613CA>AG; p.S205G; 13:60042703-60042704	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3143G>T; p.R1048L; 13:59810808-59810808	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1915G>T; p.E639*; 13:59970896-59970896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.939A>T; p.S313S; 13:60008619-60008619	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1180G>A; p.E394K; 13:59992132-59992132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]