Entrez Gene

Basic Information
Gene ID	9119
Name	KRT75
Synonymous	keratin 75, type II;KRT75;keratin 75, type II
Definition	CK-75\|K75\|cytokeratin type II\|cytokeratin-75\|hK6hf\|keratin, type II cytoskeletal 75\|keratin-6 hair follicle\|keratin-75\|type II keratin-18\|type II keratin-K6hf\|type-II keratin Kb18
Position	12q13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1580G>A; p.R527Q; 12:52424593-52424593	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1580G>A; p.R527Q; 12:52424593-52424593	large_intestine; rectum	NS	Substitution - Missense
c.1580G>A; p.R527Q; 12:52424593-52424593	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1580G>A; p.R527Q; 12:52424593-52424593	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1580G>A; p.R527Q; 12:52424593-52424593	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.303G>A; p.G101G; 12:52434002-52434002	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1580G>A; p.R527Q; 12:52424593-52424593	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1580G>A; p.R527Q; 12:52424593-52424593	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.737G>C; p.R246P; 12:52432043-52432043	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1252G>A; p.E418K; 12:52428386-52428386	skin	malignant_melanoma	Substitution - Missense
c.419_420CC>AA; p.P140Q; 12:52433885-52433886	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1280_1284delTGGCT; p.M427fs*5; 12:52428354-52428358	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.91C>T; p.R31C; 12:52434214-52434214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>T; p.R31C; 12:52434214-52434214	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1500C>T; p.S500S; 12:52424673-52424673	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1501G>A; p.G501S; 12:52424672-52424672	pancreas	carcinoma	Substitution - Missense
c.678G>A; p.R226R; 12:52433073-52433073	skin	malignant_melanoma	Substitution - coding silent
c.834C>T; p.P278P; 12:52431579-52431579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555G>A; p.Q185Q; 12:52433196-52433196	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.834C>T; p.P278P; 12:52431579-52431579	thyroid	other; neoplasm	Substitution - coding silent
c.436C>T; p.R146W; 12:52433869-52433869	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.200_201insG; p.A68fs*92; 12:52434104-52434105	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.95T>A; p.F32Y; 12:52434210-52434210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1101C>A; p.I367I; 12:52428678-52428678	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1101C>A; p.I367I; 12:52428678-52428678	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101C>A; p.I367I; 12:52428678-52428678	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.411A>G; p.Q137Q; 12:52433894-52433894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1384T>G; p.L462V; 12:52426850-52426850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1166C>T; p.S389F; 12:52428472-52428472	skin	malignant_melanoma	Substitution - Missense
c.408G>A; p.L136L; 12:52433897-52433897	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1471G>T; p.G491C; 12:52424702-52424702	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.128G>A; p.G43E; 12:52434177-52434177	skin	malignant_melanoma	Substitution - Missense
c.1549_1550GG>AA; p.G517K; 12:52424623-52424624	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.736C>T; p.R246C; 12:52432044-52432044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1292T>C; p.L431P; 12:52428346-52428346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1292T>C; p.L431P; 12:52428346-52428346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1292T>C; p.L431P; 12:52428346-52428346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.237C>T; p.S79S; 12:52434068-52434068	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1107A>C; p.E369D; 12:52428672-52428672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1591G>T; p.G531C; 12:52424582-52424582	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.960C>T; p.I320I; 12:52430616-52430616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1031C>T; p.T344I; 12:52430545-52430545	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1453A>T; p.S485C; 12:52424720-52424720	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1135G>T; p.A379S; 12:52428644-52428644	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1135G>T; p.A379S; 12:52428644-52428644	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.A449T; 12:52428293-52428293	liver	carcinoma	Substitution - Missense
c.415G>A; p.D139N; 12:52433890-52433890	skin	malignant_melanoma	Substitution - Missense
c.630G>C; p.Q210H; 12:52433121-52433121	ovary	other; neoplasm	Substitution - Missense
c.415G>A; p.D139N; 12:52433890-52433890	skin	malignant_melanoma	Substitution - Missense
c.277G>A; p.G93R; 12:52434028-52434028	skin	malignant_melanoma	Substitution - Missense
c.630G>C; p.Q210H; 12:52433121-52433121	ovary	other; neoplasm	Substitution - Missense
c.1534C>A; p.L512M; 12:52424639-52424639	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.720A>C; p.E240D; 12:52432060-52432060	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1031C>G; p.T344S; 12:52430545-52430545	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.39C>A; p.S13R; 12:52434266-52434266	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1509C>T; p.S503S; 12:52424664-52424664	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1336G>A; p.V446M; 12:52428302-52428302	breast	carcinoma	Substitution - Missense
c.1355G>A; p.R452H; 12:52428283-52428283	prostate	carcinoma	Substitution - Missense
c.935G>A; p.R312H; 12:52430641-52430641	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1355G>A; p.R452H; 12:52428283-52428283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1181C>T; p.A394V; 12:52428457-52428457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>A; p.E465E; 12:52426839-52426839	skin	malignant_melanoma	Substitution - coding silent
c.209G>T; p.R70L; 12:52434096-52434096	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1643G>A; p.S548N; 12:52424530-52424530	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1044G>C; p.E348D; 12:52428735-52428735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.785C>T; p.A262V; 12:52431628-52431628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.444G>A; p.E148E; 12:52433861-52433861	skin	malignant_melanoma	Substitution - coding silent
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	thyroid	other; neoplasm	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	thyroid	other; neoplasm	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	thyroid	other; neoplasm	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	thyroid	other; neoplasm	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286G>C; p.R429P; 12:52428352-52428352	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1008C>T; p.A336A; 12:52430568-52430568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.301G>T; p.G101W; 12:52434004-52434004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1280T>C; p.M427T; 12:52428358-52428358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1527G>T; p.G509G; 12:52424646-52424646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.215C>T; p.S72F; 12:52434090-52434090	skin	malignant_melanoma	Substitution - Missense
c.1456G>A; p.G486S; 12:52424717-52424717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.894G>T; p.Q298H; 12:52430682-52430682	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1453A>C; p.S485R; 12:52424720-52424720	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.592C>T; p.P198S; 12:52433159-52433159	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1606G>A; p.V536I; 12:52424567-52424567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.360C>A; p.G120G; 12:52433945-52433945	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.462G>A; p.K154K; 12:52433843-52433843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1435C>T; p.L479F; 12:52424738-52424738	skin	malignant_melanoma	Substitution - Missense
c.437G>C; p.R146P; 12:52433868-52433868	skin	malignant_melanoma	Substitution - Missense
c.1483G>T; p.G495C; 12:52424690-52424690	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.998G>A; p.R333H; 12:52430578-52430578	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.492C>T; p.I164I; 12:52433813-52433813	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.961G>A; p.A321T; 12:52430615-52430615	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1475G>A; p.G492E; 12:52424698-52424698	skin	malignant_melanoma	Substitution - Missense
c.717C>T; p.Y239Y; 12:52432063-52432063	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.754G>A; p.E252K; 12:52432026-52432026	skin	malignant_melanoma	Substitution - Missense
c.767T>C; p.L256P; 12:52432013-52432013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.445G>A; p.E149K; 12:52433860-52433860	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1486C>T; p.L496F; 12:52424687-52424687	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.724G>A; p.E242K; 12:52432056-52432056	skin	malignant_melanoma	Substitution - Missense
c.724G>A; p.E242K; 12:52432056-52432056	skin	malignant_melanoma	Substitution - Missense
c.724G>A; p.E242K; 12:52432056-52432056	skin	malignant_melanoma	Substitution - Missense
c.129G>C; p.G43G; 12:52434176-52434176	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1103C>G; p.S368C; 12:52428676-52428676	breast	carcinoma	Substitution - Missense
c.780A>G; p.V260V; 12:52431633-52431633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1172_1173insT; p.L391fs*7; 12:52428465-52428466	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1082G>A; p.R361Q; 12:52428697-52428697	skin	malignant_melanoma	Substitution - Missense
c.1082G>A; p.R361Q; 12:52428697-52428697	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1082G>A; p.R361Q; 12:52428697-52428697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1012delG; p.A338fs*33; 12:52430564-52430564	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.216C>T; p.S72S; 12:52434089-52434089	skin	malignant_melanoma	Substitution - coding silent
c.857C>T; p.S286L; 12:52431556-52431556	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.905C>A; p.T302K; 12:52430671-52430671	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.502A>C; p.R168R; 12:52433249-52433249	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.507C>T; p.F169F; 12:52433244-52433244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1057G>A; p.A353T; 12:52428722-52428722	central_nervous_system; brain	glioma	Substitution - Missense
c.838G>A; p.E280K; 12:52431575-52431575	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1489G>A; p.G497S; 12:52424684-52424684	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1489G>A; p.G497S; 12:52424684-52424684	breast	carcinoma	Substitution - Missense
c.1383-1G>T; p.?; 12:52426852-52426852	prostate	carcinoma; adenocarcinoma	Unknown
c.1020C>A; p.S340S; 12:52430556-52430556	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - coding silent
c.122C>A; p.A41E; 12:52434183-52434183	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.519G>A; p.Q173Q; 12:52433232-52433232	breast	carcinoma	Substitution - coding silent
c.1479C>T; p.N493N; 12:52424694-52424694	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.54C>T; p.S18S; 12:52434251-52434251	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.633G>A; p.L211L; 12:52433118-52433118	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1129C>T; p.L377L; 12:52428650-52428650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.949G>A; p.D317N; 12:52430627-52430627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1565G>T; p.S522I; 12:52424608-52424608	prostate	adenoma	Substitution - Missense
c.1464C>A; p.S488R; 12:52424709-52424709	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.241C>T; p.R81*; 12:52434064-52434064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.597C>T; p.L199L; 12:52433154-52433154	skin	malignant_melanoma	Substitution - coding silent
c.8G>A; p.R3Q; 12:52434297-52434297	pancreas	carcinoma	Substitution - Missense
c.1372G>A; p.E458K; 12:52428266-52428266	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.439G>C; p.A147P; 12:52433866-52433866	skin	malignant_melanoma	Substitution - Missense
c.737G>A; p.R246H; 12:52432043-52432043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>T; p.R527W; 12:52424594-52424594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>T; p.R527W; 12:52424594-52424594	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1455C>T; p.S485S; 12:52424718-52424718	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1455C>T; p.S485S; 12:52424718-52424718	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.384G>T; p.Q128H; 12:52433921-52433921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.257G>A; p.G86D; 12:52434048-52434048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.449G>A; p.R150H; 12:52433856-52433856	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1592delG; p.G531fs*>21; 12:52424581-52424581	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.419C>A; p.P140H; 12:52433886-52433886	skin	malignant_melanoma	Substitution - Missense
c.431G>A; p.R144Q; 12:52433874-52433874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1038C>T; p.Y346Y; 12:52428741-52428741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.480C>T; p.F160F; 12:52433825-52433825	skin	malignant_melanoma	Substitution - coding silent
c.480C>T; p.F160F; 12:52433825-52433825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.480C>T; p.F160F; 12:52433825-52433825	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.480C>T; p.F160F; 12:52433825-52433825	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.480C>T; p.F160F; 12:52433825-52433825	skin	malignant_melanoma	Substitution - coding silent
c.480C>T; p.F160F; 12:52433825-52433825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.625C>T; p.R209W; 12:52433126-52433126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>A; p.E380K; 12:52428641-52428641	urinary_tract; bladder	carcinoma	Substitution - Missense
c.870+6A>G; p.?; 12:52431537-52431537	liver	carcinoma	Unknown
c.934C>T; p.R312C; 12:52430642-52430642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>T; p.A321A; 12:52430613-52430613	breast	carcinoma	Substitution - coding silent
c.481G>A; p.A161T; 12:52433824-52433824	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.302G>A; p.G101E; 12:52434003-52434003	skin	malignant_melanoma	Substitution - Missense
c.169T>G; p.F57V; 12:52434136-52434136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>A; p.E240K; 12:52432062-52432062	skin	malignant_melanoma	Substitution - Missense
c.366A>G; p.Q122Q; 12:52433939-52433939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1119G>A; p.M373I; 12:52428660-52428660	skin	malignant_melanoma	Substitution - Missense
c.777C>T; p.D259D; 12:52431636-52431636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1003C>T; p.R335W; 12:52430573-52430573	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.777C>T; p.D259D; 12:52431636-52431636	breast	carcinoma	Substitution - coding silent
c.179G>A; p.R60H; 12:52434126-52434126	urinary_tract; bladder	carcinoma	Substitution - Missense
c.638G>A; p.S213N; 12:52433113-52433113	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1405C>T; p.P469S; 12:52426829-52426829	skin	malignant_melanoma	Substitution - Missense
c.450C>T; p.R150R; 12:52433855-52433855	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1545C>T; p.G515G; 12:52424628-52424628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1498A>C; p.S500R; 12:52424675-52424675	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]