Entrez Gene

Basic Information
Gene ID	9401
Name	RECQL4
Synonymous	RecQ protein-like 4;RECQL4;RecQ protein-like 4
Definition	ATP-dependent DNA helicase Q4\|DNA helicase, RecQ-like type 4\|DNA helicase, RecQ-like, type 4
Position	8q24.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.308delC; p.P103fs*11; 8:144517096-144517096	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1518C>T; p.A506A; 8:144515038-144515038	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2511G>A; p.T837T; 8:144513091-144513091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2131G>A; p.E711K; 8:144513640-144513640	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2721G>A; p.Q907Q; 8:144512881-144512881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3419G>A; p.R1140H; 8:144511764-144511764	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2636_2637insC; p.Q880fs*4; 8:144512965-144512966	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2636_2637insC; p.Q880fs*4; 8:144512965-144512966	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3531C>T; p.Y1177Y; 8:144511527-144511527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2963A>G; p.D988G; 8:144512484-144512484	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3443C>T; p.S1148F; 8:144511740-144511740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1249C>A; p.P417T; 8:144515773-144515773	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1930G>A; p.A644T; 8:144514056-144514056	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2782G>C; p.E928Q; 8:144512745-144512745	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.992G>A; p.G331E; 8:144516127-144516127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1064G>A; p.R355Q; 8:144516055-144516055	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1124G>A; p.R375H; 8:144515995-144515995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.438G>A; p.G146G; 8:144516681-144516681	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.165C>T; p.A55A; 8:144517462-144517462	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2579C>T; p.P860L; 8:144513023-144513023	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2579C>T; p.P860L; 8:144513023-144513023	liver	carcinoma	Substitution - Missense
c.1045G>A; p.D349N; 8:144516074-144516074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1233C>G; p.H411Q; 8:144515789-144515789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2613G>A; p.E871E; 8:144512989-144512989	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3609C>T; p.L1203L; 8:144511449-144511449	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2464-1G>T; p.?; 8:144513139-144513139	pancreas	carcinoma; acinar_carcinoma	Unknown
c.3281A>C; p.E1094A; 8:144512023-144512023	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.801G>C; p.E267D; 8:144516318-144516318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.801G>C; p.E267D; 8:144516318-144516318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.801G>C; p.E267D; 8:144516318-144516318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3591C>T; p.G1197G; 8:144511467-144511467	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1645A>G; p.K549E; 8:144514501-144514501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3342G>A; p.Q1114Q; 8:144511962-144511962	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2855G>C; p.G952A; 8:144512672-144512672	liver	carcinoma	Substitution - Missense
c.2728G>A; p.V910I; 8:144512874-144512874	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2068A>G; p.T690A; 8:144513703-144513703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.996G>T; p.K332N; 8:144516123-144516123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1869C>T; p.R623R; 8:144514198-144514198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3286C>T; p.R1096C; 8:144512018-144512018	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.367C>G; p.L123V; 8:144516752-144516752	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3502G>A; p.G1168R; 8:144511681-144511681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1377A>G; p.S459S; 8:144515339-144515339	pancreas	carcinoma	Substitution - coding silent
c.1377A>G; p.S459S; 8:144515339-144515339	pancreas	carcinoma	Substitution - coding silent
c.467G>A; p.S156N; 8:144516652-144516652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2856C>G; p.G952G; 8:144512671-144512671	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.611C>G; p.A204G; 8:144516508-144516508	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2863C>T; p.Q955*; 8:144512664-144512664	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.611C>G; p.A204G; 8:144516508-144516508	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1391-1G>C; p.?; 8:144515243-144515243	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.508G>T; p.G170C; 8:144516611-144516611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3447G>T; p.L1149L; 8:144511736-144511736	breast	carcinoma	Substitution - coding silent
c.1638G>A; p.P546P; 8:144514508-144514508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3316C>T; p.R1106C; 8:144511988-144511988	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1542C>A; p.L514L; 8:144515014-144515014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2704C>T; p.R902W; 8:144512898-144512898	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3570G>C; p.L1190L; 8:144511488-144511488	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1108C>T; p.R370C; 8:144516011-144516011	skin	malignant_melanoma	Substitution - Missense
c.1647G>A; p.K549K; 8:144514499-144514499	skin	malignant_melanoma	Substitution - coding silent
c.1647G>A; p.K549K; 8:144514499-144514499	skin	malignant_melanoma	Substitution - coding silent
c.795C>T; p.N265N; 8:144516324-144516324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3506G>T; p.S1169I; 8:144511552-144511552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1712C>T; p.A571V; 8:144514355-144514355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2307G>A; p.V769V; 8:144513374-144513374	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.766A>G; p.S256G; 8:144516353-144516353	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.518A>G; p.Q173R; 8:144516601-144516601	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1879-2A>G; p.?; 8:144514109-144514109	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.213+5C>T; p.?; 8:144517409-144517409	liver	carcinoma	Unknown
c.2144G>A; p.R715Q; 8:144513627-144513627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.213+5C>T; p.?; 8:144517409-144517409	liver	carcinoma	Unknown
c.3014G>A; p.R1005Q; 8:144512433-144512433	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3014G>A; p.R1005Q; 8:144512433-144512433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3014G>A; p.R1005Q; 8:144512433-144512433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2569_2574delTGCACC; p.C857_T858delCT; 8:144513028-144513033	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.3014G>A; p.R1005Q; 8:144512433-144512433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2124C>A; p.N708K; 8:144513647-144513647	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1731G>A; p.L577L; 8:144514336-144514336	breast	carcinoma	Substitution - coding silent
c.1887G>A; p.R629R; 8:144514099-144514099	breast	carcinoma	Substitution - coding silent
c.1686G>A; p.R562R; 8:144514460-144514460	kidney	other; neoplasm	Substitution - coding silent
c.2783A>C; p.E928A; 8:144512744-144512744	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.358G>A; p.G120R; 8:144516761-144516761	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.358G>A; p.G120R; 8:144516761-144516761	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.3393+8C>T; p.?; 8:144511903-144511903	liver	carcinoma	Unknown
c.3393+8C>T; p.?; 8:144511903-144511903	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.2161C>T; p.R721*; 8:144513610-144513610	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1061T>C; p.V354A; 8:144516058-144516058	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1015delC; p.L339fs*20; 8:144516104-144516104	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1060G>A; p.V354I; 8:144516059-144516059	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2252G>A; p.R751Q; 8:144513429-144513429	oesophagus	carcinoma	Substitution - Missense
c.738C>T; p.S246S; 8:144516381-144516381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.738C>T; p.S246S; 8:144516381-144516381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.738C>T; p.S246S; 8:144516381-144516381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.738C>T; p.S246S; 8:144516381-144516381	thyroid	other; neoplasm	Substitution - coding silent
c.889G>C; p.D297H; 8:144516230-144516230	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2272C>T; p.R758*; 8:144513409-144513409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3485G>A; p.R1162H; 8:144511698-144511698	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1154A>T; p.K385M; 8:144515868-144515868	thyroid	other; neoplasm	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3119C>T; p.P1040L; 8:144512261-144512261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3394C>G; p.L1132V; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3142A>G; p.K1048E; 8:144512238-144512238	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3259C>T; p.P1087S; 8:144512045-144512045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1579A>G; p.T527A; 8:144514977-144514977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.173G>A; p.G58E; 8:144517454-144517454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646A>T; p.K549M; 8:144514500-144514500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.187G>C; p.E63Q; 8:144517440-144517440	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1159G>T; p.G387W; 8:144515863-144515863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3484C>T; p.R1162C; 8:144511699-144511699	pancreas	carcinoma	Substitution - Missense
c.3282G>T; p.E1094D; 8:144512022-144512022	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2141A>T; p.E714V; 8:144513630-144513630	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1594C>T; p.P532S; 8:144514962-144514962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1448C>A; p.P483H; 8:144515185-144515185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2068A>T; p.T690S; 8:144513703-144513703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2987T>C; p.M996T; 8:144512460-144512460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3065G>A; p.R1022H; 8:144512315-144512315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.493C>A; p.P165T; 8:144516626-144516626	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3622C>T; p.R1208C; 8:144511436-144511436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1595C>T; p.P532L; 8:144514961-144514961	skin	malignant_melanoma	Substitution - Missense
c.1131+5G>C; p.?; 8:144515983-144515983	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.333C>T; p.A111A; 8:144517071-144517071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1364C>T; p.S455F; 8:144515352-144515352	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1316C>A; p.P439H; 8:144515400-144515400	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2754G>T; p.E918D; 8:144512848-144512848	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3476C>T; p.A1159V; 8:144511707-144511707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1684C>T; p.R562W; 8:144514462-144514462	prostate	carcinoma	Substitution - Missense
c.2754G>T; p.E918D; 8:144512848-144512848	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.896C>T; p.P299L; 8:144516223-144516223	skin	malignant_melanoma	Substitution - Missense
c.1584G>C; p.L528F; 8:144514972-144514972	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1584G>C; p.L528F; 8:144514972-144514972	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1043A>G; p.H348R; 8:144516076-144516076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2087G>A; p.R696H; 8:144513684-144513684	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2937G>A; p.G979G; 8:144512510-144512510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.478C>T; p.P160S; 8:144516641-144516641	breast	carcinoma	Substitution - Missense
c.395G>A; p.R132K; 8:144516724-144516724	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.504G>A; p.R168R; 8:144516615-144516615	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1089C>T; p.Y363Y; 8:144516030-144516030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3146A>G; p.D1049G; 8:144512234-144512234	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.817G>A; p.A273T; 8:144516302-144516302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2837G>A; p.R946H; 8:144512690-144512690	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3394C>A; p.L1132I; 8:144511789-144511789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2877G>A; p.L959L; 8:144512650-144512650	ovary	other; neoplasm	Substitution - coding silent
c.2600C>T; p.A867V; 8:144513002-144513002	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3414G>T; p.Q1138H; 8:144511769-144511769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2263C>T; p.R755W; 8:144513418-144513418	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.566G>T; p.G189V; 8:144516553-144516553	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.785G>A; p.R262Q; 8:144516334-144516334	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>A; p.T465T; 8:144515238-144515238	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1444C>T; p.R482C; 8:144515189-144515189	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3307C>A; p.L1103M; 8:144511997-144511997	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1372C>T; p.P458S; 8:144515344-144515344	kidney	other; neoplasm	Substitution - Missense
c.3187G>A; p.E1063K; 8:144512193-144512193	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.1395G>C; p.T465T; 8:144515238-144515238	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.365C>T; p.A122V; 8:144516754-144516754	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1282G>T; p.V428F; 8:144515434-144515434	liver	carcinoma	Substitution - Missense
c.1627G>C; p.G543R; 8:144514519-144514519	ovary	other; neoplasm	Substitution - Missense
c.3573C>T; p.S1191S; 8:144511485-144511485	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2490A>G; p.R830R; 8:144513112-144513112	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1219G>A; p.E407K; 8:144515803-144515803	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1398G>T; p.P466P; 8:144515235-144515235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2957A>G; p.E986G; 8:144512490-144512490	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2841G>C; p.L947L; 8:144512686-144512686	breast	carcinoma	Substitution - coding silent
c.3325G>C; p.E1109Q; 8:144511979-144511979	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1176T>G; p.G392G; 8:144515846-144515846	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3136G>A; p.E1046K; 8:144512244-144512244	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2924C>T; p.P975L; 8:144512523-144512523	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.961G>A; p.G321R; 8:144516158-144516158	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1321C>T; p.P441S; 8:144515395-144515395	skin	malignant_melanoma	Substitution - Missense
c.1705-2A>G; p.?; 8:144514364-144514364	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.3610C>T; p.L1204L; 8:144511448-144511448	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1321C>T; p.P441S; 8:144515395-144515395	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646A>G; p.K549R; 8:144514500-144514500	kidney	other; neoplasm	Substitution - Missense
c.280C>T; p.P94S; 8:144517124-144517124	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2840T>G; p.L947R; 8:144512687-144512687	pancreas	carcinoma	Substitution - Missense
c.355-2A>C; p.?; 8:144516766-144516766	lung	carcinoma; adenocarcinoma	Unknown
c.743G>A; p.R248H; 8:144516376-144516376	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3185G>A; p.R1062Q; 8:144512195-144512195	skin	malignant_melanoma	Substitution - Missense
c.3185G>A; p.R1062Q; 8:144512195-144512195	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.921A>C; p.P307P; 8:144516198-144516198	thyroid	other; neoplasm	Substitution - coding silent
c.3588G>A; p.V1196V; 8:144511470-144511470	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.910C>T; p.Q304*; 8:144516209-144516209	prostate	carcinoma	Substitution - Nonsense
c.661A>G; p.I221V; 8:144516458-144516458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3184C>T; p.R1062W; 8:144512196-144512196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3256G>A; p.G1086R; 8:144512048-144512048	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3526G>A; p.V1176M; 8:144511532-144511532	skin	malignant_melanoma	Substitution - Missense
c.2941G>C; p.G981R; 8:144512506-144512506	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.123C>T; p.L41L; 8:144517504-144517504	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2868C>A; p.L956L; 8:144512659-144512659	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.892C>T; p.P298S; 8:144516227-144516227	skin	malignant_melanoma	Substitution - Missense
c.1123C>T; p.R375C; 8:144515996-144515996	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1123C>T; p.R375C; 8:144515996-144515996	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1123C>T; p.R375C; 8:144515996-144515996	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1123C>T; p.R375C; 8:144515996-144515996	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1431G>C; p.G477G; 8:144515202-144515202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1978G>A; p.E660K; 8:144514008-144514008	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2101G>A; p.D701N; 8:144513670-144513670	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.777C>T; p.G259G; 8:144516342-144516342	prostate	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]