Entrez Gene

Basic Information
Gene ID	10057
Name	ABCC5
Synonymous	ATP-binding cassette, sub-family C (CFTR/MRP), member 5;ABCC5;ATP-binding cassette, sub-family C (CFTR/MRP), member 5
Definition	ATP-binding cassette sub-family C member 5\|canalicular multispecific organic anion transporter C\|multi-specific organic anion transporter C\|multidrug resistance-associated protein 5
Position	3q27
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3315C>G; p.I1105M; 3:183947423-183947423	breast	carcinoma	Substitution - Missense
c.1445A>G; p.K482R; 3:183971879-183971879	breast	carcinoma	Substitution - Missense
c.755G>C; p.G252A; 3:183982844-183982844	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3725G>A; p.R1242H; 3:183938030-183938030	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.755G>C; p.G252A; 3:183982844-183982844	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4183G>T; p.D1395Y; 3:183925584-183925584	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2636G>A; p.W879*; 3:183953117-183953117	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.13G>C; p.D5H; 3:184014380-184014380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3663G>A; p.E1221E; 3:183942758-183942758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3269delT; p.L1090fs*26; 3:183947469-183947469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3373C>T; p.P1125S; 3:183947365-183947365	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2416_2418delAAG; p.K806delK; 3:183959797-183959799	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2988C>T; p.N996N; 3:183950082-183950082	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3800G>A; p.R1267Q; 3:183937955-183937955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3005_3007delTCT; p.F1002delF; 3:183950063-183950065	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1041C>T; p.C347C; 3:183981833-183981833	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2820G>A; p.T940T; 3:183951565-183951565	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.190T>C; p.S64P; 3:183989323-183989323	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1060C>T; p.R354C; 3:183981814-183981814	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3422G>T; p.G1141V; 3:183945932-183945932	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.52A>G; p.R18G; 3:184014341-184014341	liver	carcinoma	Substitution - Missense
c.3122G>A; p.R1041H; 3:183949858-183949858	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3122G>A; p.R1041H; 3:183949858-183949858	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3940C>A; p.Q1314K; 3:183927437-183927437	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3122G>A; p.R1041H; 3:183949858-183949858	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2896A>G; p.T966A; 3:183951489-183951489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4167C>A; p.H1389Q; 3:183925600-183925600	stomach	adenocarcinoma	Substitution - Missense
c.2832C>T; p.S944S; 3:183951553-183951553	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1820C>T; p.A607V; 3:183967708-183967708	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1820C>T; p.A607V; 3:183967708-183967708	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2794C>T; p.R932*; 3:183951877-183951877	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3138G>A; p.T1046T; 3:183949842-183949842	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3497A>G; p.Y1166C; 3:183945857-183945857	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4221G>A; p.E1407E; 3:183921393-183921393	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.231C>T; p.P77P; 3:183989282-183989282	skin	malignant_melanoma	Substitution - coding silent
c.3039G>A; p.W1013*; 3:183950031-183950031	breast	carcinoma	Substitution - Nonsense
c.3903T>C; p.D1301D; 3:183928777-183928777	skin	malignant_melanoma	Substitution - coding silent
c.1915C>G; p.L639V; 3:183965420-183965420	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2855_2856delTC; p.F952fs*12; 3:183951529-183951530	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.711A>G; p.A237A; 3:183982888-183982888	liver	carcinoma	Substitution - coding silent
c.1278C>T; p.F426F; 3:183978521-183978521	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.711A>G; p.A237A; 3:183982888-183982888	liver	carcinoma	Substitution - coding silent
c.940A>T; p.I314F; 3:183982510-183982510	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2782C>A; p.L928M; 3:183951889-183951889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1382C>T; p.S461L; 3:183977539-183977539	breast	carcinoma	Substitution - Missense
c.3555T>C; p.P1185P; 3:183942866-183942866	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1449A>G; p.P483P; 3:183971875-183971875	kidney	other; neoplasm	Substitution - coding silent
c.1367C>T; p.S456F; 3:183977554-183977554	skin	malignant_melanoma	Substitution - Missense
c.141A>G; p.Q47Q; 3:183989372-183989372	liver	carcinoma	Substitution - coding silent
c.4303G>A; p.V1435I; 3:183921311-183921311	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4114A>G; p.I1372V; 3:183925653-183925653	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.799A>T; p.N267Y; 3:183982800-183982800	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2064G>T; p.G688G; 3:183963556-183963556	pancreas	carcinoma	Substitution - coding silent
c.432G>A; p.V144V; 3:183988583-183988583	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1460A>C; p.H487P; 3:183971864-183971864	breast	carcinoma	Substitution - Missense
c.1518C>A; p.I506I; 3:183971806-183971806	kidney	other; neoplasm	Substitution - coding silent
c.2333C>T; p.A778V; 3:183961557-183961557	skin	malignant_melanoma	Substitution - Missense
c.2664C>T; p.S888S; 3:183953089-183953089	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3065T>C; p.V1022A; 3:183950005-183950005	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2667G>A; p.G889G; 3:183953086-183953086	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2369C>T; p.P790L; 3:183961521-183961521	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3281C>T; p.A1094V; 3:183947457-183947457	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3281C>T; p.A1094V; 3:183947457-183947457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2959C>A; p.P987T; 3:183950111-183950111	meninges	meningioma	Substitution - Missense
c.1102A>G; p.I368V; 3:183981772-183981772	liver	carcinoma	Substitution - Missense
c.1102A>G; p.I368V; 3:183981772-183981772	liver	carcinoma	Substitution - Missense
c.1152_1153CC>TT; p.R385C; 3:183978646-183978647	skin; trunk	malignant_melanoma	Substitution - Missense
c.4174C>G; p.L1392V; 3:183925593-183925593	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1886C>T; p.A629V; 3:183965449-183965449	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.529A>C; p.T177P; 3:183987832-183987832	breast	carcinoma	Substitution - Missense
c.1804delA; p.T602fs*8; 3:183967724-183967724	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4303G>C; p.V1435L; 3:183921311-183921311	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2221A>G; p.T741A; 3:183963399-183963399	breast	carcinoma	Substitution - Missense
c.752G>T; p.R251L; 3:183982847-183982847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1381T>C; p.S461P; 3:183977540-183977540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2994C>T; p.I998I; 3:183950076-183950076	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3621T>C; p.P1207P; 3:183942800-183942800	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3209G>A; p.G1070E; 3:183949771-183949771	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1921G>A; p.D641N; 3:183965414-183965414	skin	malignant_melanoma	Substitution - Missense
c.2673C>T; p.T891T; 3:183951998-183951998	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2812A>T; p.K938*; 3:183951859-183951859	kidney	other; neoplasm	Substitution - Nonsense
c.384C>T; p.L128L; 3:183988631-183988631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2805C>T; p.V935V; 3:183951866-183951866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1165C>T; p.R389C; 3:183978634-183978634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4159C>T; p.R1387C; 3:183925608-183925608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4139C>T; p.T1380I; 3:183925628-183925628	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2844T>C; p.H948H; 3:183951541-183951541	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3035C>T; p.P1012L; 3:183950035-183950035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1166G>T; p.R389L; 3:183978633-183978633	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3282G>A; p.A1094A; 3:183947456-183947456	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3282G>A; p.A1094A; 3:183947456-183947456	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.4170G>A; p.T1390T; 3:183925597-183925597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.826-4A>G; p.?; 3:183982628-183982628	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3282G>A; p.A1094A; 3:183947456-183947456	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1844T>C; p.L615P; 3:183965491-183965491	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1042G>A; p.V348M; 3:183981832-183981832	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3897T>G; p.I1299M; 3:183928783-183928783	skin	malignant_melanoma	Substitution - Missense
c.1875C>T; p.F625F; 3:183965460-183965460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1309G>T; p.V437L; 3:183977612-183977612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1302C>T; p.F434F; 3:183977619-183977619	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.941T>A; p.I314N; 3:183982509-183982509	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3786C>T; p.G1262G; 3:183937969-183937969	skin	malignant_melanoma	Substitution - coding silent
c.3265T>G; p.F1089V; 3:183947473-183947473	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2856C>G; p.F952L; 3:183951529-183951529	breast	carcinoma	Substitution - Missense
c.1604G>T; p.R535L; 3:183971720-183971720	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2762C>T; p.S921F; 3:183951909-183951909	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.679C>T; p.L227L; 3:183982920-183982920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3647C>T; p.T1216M; 3:183942774-183942774	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1665G>A; p.E555E; 3:183971659-183971659	NS	NS	Substitution - coding silent
c.2622C>T; p.A874A; 3:183953131-183953131	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3121C>T; p.R1041C; 3:183949859-183949859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.444-8T>G; p.?; 3:183987925-183987925	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.1446A>C; p.K482N; 3:183971878-183971878	thyroid	other; neoplasm	Substitution - Missense
c.1276T>A; p.F426I; 3:183978523-183978523	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3276G>A; p.T1092T; 3:183947462-183947462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3276G>A; p.T1092T; 3:183947462-183947462	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3276G>A; p.T1092T; 3:183947462-183947462	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.160G>T; p.A54S; 3:183989353-183989353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.502C>T; p.R168*; 3:183987859-183987859	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1604G>A; p.R535H; 3:183971720-183971720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2023C>T; p.L675L; 3:183965193-183965193	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1502C>A; p.S501Y; 3:183971822-183971822	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour	Substitution - Missense
c.2848G>A; p.E950K; 3:183951537-183951537	skin	malignant_melanoma	Substitution - Missense
c.751C>T; p.R251W; 3:183982848-183982848	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.129+2T>C; p.?; 3:184014262-184014262	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2538T>C; p.Y846Y; 3:183953215-183953215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2391A>G; p.K797K; 3:183959824-183959824	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1628C>T; p.A543V; 3:183971696-183971696	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2847C>T; p.D949D; 3:183951538-183951538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3770G>C; p.R1257T; 3:183937985-183937985	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4096T>G; p.L1366V; 3:183925671-183925671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4162C>G; p.L1388V; 3:183925605-183925605	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1755C>A; p.I585I; 3:183971569-183971569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1146A>G; p.Q382Q; 3:183981728-183981728	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146A>G; p.Q382Q; 3:183981728-183981728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146A>G; p.Q382Q; 3:183981728-183981728	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146A>G; p.Q382Q; 3:183981728-183981728	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4087G>C; p.E1363Q; 3:183925680-183925680	breast	carcinoma	Substitution - Missense
c.2565C>T; p.G855G; 3:183953188-183953188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1603C>T; p.R535C; 3:183971721-183971721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3816C>G; p.I1272M; 3:183937939-183937939	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3195C>T; p.H1065H; 3:183949785-183949785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.752G>A; p.R251Q; 3:183982847-183982847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.389T>G; p.M130R; 3:183988626-183988626	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3413A>G; p.Q1138R; 3:183947325-183947325	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.315G>C; p.G105G; 3:183988700-183988700	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.338C>T; p.S113L; 3:183988677-183988677	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.338C>T; p.S113L; 3:183988677-183988677	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1892A>C; p.Q631P; 3:183965443-183965443	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.1892A>C; p.Q631P; 3:183965443-183965443	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1172T>A; p.I391K; 3:183978627-183978627	kidney	other; neoplasm	Substitution - Missense
c.1892A>C; p.Q631P; 3:183965443-183965443	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.2556T>C; p.A852A; 3:183953197-183953197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1430A>G; p.H477R; 3:183971894-183971894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2564delG; p.G855fs*14; 3:183953189-183953189	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.490G>A; p.A164T; 3:183987871-183987871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3374C>G; p.P1125R; 3:183947364-183947364	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476G>A; p.E826K; 3:183959739-183959739	breast	carcinoma	Substitution - Missense
c.612C>T; p.L204L; 3:183982987-183982987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4080G>T; p.M1360I; 3:183925687-183925687	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3962C>T; p.S1321F; 3:183927415-183927415	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3799C>T; p.R1267*; 3:183937956-183937956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3945A>T; p.L1315L; 3:183927432-183927432	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3387G>T; p.A1129A; 3:183947351-183947351	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3685A>G; p.T1229A; 3:183942736-183942736	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3812C>T; p.S1271F; 3:183937943-183937943	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3109C>T; p.R1037W; 3:183949871-183949871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>A; p.R120H; 3:183988656-183988656	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1770G>A; p.L590L; 3:183967758-183967758	breast	carcinoma	Substitution - coding silent
c.164G>A; p.R55Q; 3:183989349-183989349	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>A; p.E360K; 3:183981796-183981796	skin	malignant_melanoma	Substitution - Missense
c.4215G>A; p.V1405V; 3:183921399-183921399	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.27G>T; p.E9D; 3:184014366-184014366	central_nervous_system; spinal_cord	glioma; ependymoma	Substitution - Missense
c.777T>C; p.F259F; 3:183982822-183982822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3189C>T; p.T1063T; 3:183949791-183949791	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3547C>T; p.P1183S; 3:183942874-183942874	skin	malignant_melanoma	Substitution - Missense
c.1185T>C; p.A395A; 3:183978614-183978614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.365C>T; p.A122V; 3:183988650-183988650	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3866A>G; p.D1289G; 3:183928814-183928814	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4223T>A; p.F1408Y; 3:183921391-183921391	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1294C>T; p.Q432*; 3:183978505-183978505	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1574delG; p.G525fs*6; 3:183971750-183971750	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3791C>T; p.A1264V; 3:183937964-183937964	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3388G>T; p.G1130C; 3:183947350-183947350	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>A; p.S505N; 3:183971810-183971810	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4219G>T; p.E1407*; 3:183921395-183921395	breast	carcinoma	Substitution - Nonsense
c.1403A>C; p.K468T; 3:183977518-183977518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>A; p.S505N; 3:183971810-183971810	skin; trunk	malignant_melanoma	Substitution - Missense
c.1789G>T; p.V597L; 3:183967739-183967739	prostate	carcinoma	Substitution - Missense
c.1153C>T; p.R385C; 3:183978646-183978646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2620G>A; p.A874T; 3:183953133-183953133	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1545A>C; p.K515N; 3:183971779-183971779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3341G>T; p.G1114V; 3:183947397-183947397	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3301C>T; p.R1101W; 3:183947437-183947437	breast	carcinoma	Substitution - Missense
c.3591C>T; p.N1197N; 3:183942830-183942830	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.502C>G; p.R168G; 3:183987859-183987859	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2834C>T; p.S945F; 3:183951551-183951551	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3244G>C; p.D1082H; 3:183947494-183947494	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3709G>A; p.G1237R; 3:183938046-183938046	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.142G>T; p.D48Y; 3:183989371-183989371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3364G>A; p.G1122R; 3:183947374-183947374	prostate	carcinoma	Substitution - Missense
c.506G>T; p.R169M; 3:183987855-183987855	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3040T>C; p.F1014L; 3:183950030-183950030	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1161G>A; p.E387E; 3:183978638-183978638	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4093G>A; p.D1365N; 3:183925674-183925674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2028G>A; p.T676T; 3:183965188-183965188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1511C>T; p.S504F; 3:183971813-183971813	skin	malignant_melanoma	Substitution - Missense
c.2028G>A; p.T676T; 3:183965188-183965188	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.163C>T; p.R55*; 3:183989350-183989350	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4220A>G; p.E1407G; 3:183921394-183921394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.274C>T; p.R92W; 3:183989239-183989239	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3437C>T; p.T1146M; 3:183945917-183945917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.889C>T; p.L297L; 3:183982561-183982561	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.746G>T; p.R249L; 3:183982853-183982853	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3736T>G; p.L1246V; 3:183938019-183938019	skin	malignant_melanoma	Substitution - Missense
c.1256C>T; p.S419F; 3:183978543-183978543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1974G>A; p.L658L; 3:183965242-183965242	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1718G>A; p.R573H; 3:183971606-183971606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.694C>T; p.R232W; 3:183982905-183982905	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1916T>C; p.L639P; 3:183965419-183965419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4047+7C>G; p.?; 3:183927323-183927323	ovary	other; neoplasm	Unknown
c.56G>C; p.S19T; 3:184014337-184014337	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1346T>C; p.V449A; 3:183977575-183977575	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1990A>G; p.R664G; 3:183965226-183965226	breast	carcinoma	Substitution - Missense
c.1810C>G; p.L604V; 3:183967718-183967718	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1619C>T; p.A540V; 3:183971705-183971705	pancreas	carcinoma	Substitution - Missense
c.4225G>A; p.D1409N; 3:183921389-183921389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.432G>T; p.V144V; 3:183988583-183988583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1273G>A; p.G425S; 3:183978526-183978526	skin	malignant_melanoma	Substitution - Missense
c.2897C>T; p.T966I; 3:183951488-183951488	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2688G>A; p.G896G; 3:183951983-183951983	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.816C>T; p.S272S; 3:183982783-183982783	skin	malignant_melanoma	Substitution - coding silent
c.2370G>A; p.P790P; 3:183961520-183961520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2894C>T; p.T965M; 3:183951491-183951491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2861G>A; p.R954K; 3:183951524-183951524	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3287G>A; p.R1096Q; 3:183947451-183947451	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3164C>T; p.T1055M; 3:183949816-183949816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3348G>A; p.M1116I; 3:183947390-183947390	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1893G>C; p.Q631H; 3:183965442-183965442	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3990C>T; p.F1330F; 3:183927387-183927387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.634G>C; p.E212Q; 3:183982965-183982965	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2866C>G; p.L956V; 3:183951519-183951519	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1388C>T; p.A463V; 3:183977533-183977533	liver	carcinoma	Substitution - Missense
c.1388C>T; p.A463V; 3:183977533-183977533	liver	carcinoma	Substitution - Missense
c.350C>T; p.S117F; 3:183988665-183988665	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1274G>A; p.G425D; 3:183978525-183978525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3021C>T; p.I1007I; 3:183950049-183950049	skin	malignant_melanoma	Substitution - coding silent
c.3021C>T; p.I1007I; 3:183950049-183950049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2473C>T; p.P825S; 3:183959742-183959742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3021C>T; p.I1007I; 3:183950049-183950049	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2692G>A; p.E898K; 3:183951979-183951979	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4141A>G; p.M1381V; 3:183925626-183925626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2754C>T; p.Y918Y; 3:183951917-183951917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4285G>A; p.A1429T; 3:183921329-183921329	liver	carcinoma	Substitution - Missense
c.4285G>A; p.A1429T; 3:183921329-183921329	liver	carcinoma	Substitution - Missense
c.3508_3509delCT; p.L1170fs*9; 3:183942912-183942913	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.758C>G; p.A253G; 3:183982841-183982841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.184G>C; p.D62H; 3:183989329-183989329	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3842G>T; p.S1281I; 3:183937913-183937913	thyroid	carcinoma	Substitution - Missense
c.2015G>A; p.S672N; 3:183965201-183965201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.773C>A; p.A258E; 3:183982826-183982826	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.2129A>C; p.D710A; 3:183963491-183963491	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3212A>T; p.Q1071L; 3:183949768-183949768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.599T>C; p.M200T; 3:183983000-183983000	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2223C>A; p.T741T; 3:183963397-183963397	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.570G>T; p.Q190H; 3:183987791-183987791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.801C>T; p.N267N; 3:183982798-183982798	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3275C>T; p.T1092M; 3:183947463-183947463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3105G>T; p.L1035L; 3:183949875-183949875	lung	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]