Entrez Gene

Basic Information
Gene ID	10111
Name	RAD50
Synonymous	RAD50 homolog (S. cerevisiae);RAD50;RAD50 homolog (S. cerevisiae)
Definition	DNA repair protein RAD50
Position	5q31
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1597C>T; p.Q533*; 5:132595617-132595617	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3122G>A; p.R1041Q; 5:132638144-132638144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2789G>T; p.R930I; 5:132618111-132618111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2593A>C; p.M865L; 5:132609370-132609370	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2789G>T; p.R930I; 5:132618111-132618111	breast	carcinoma	Substitution - Missense
c.2789G>T; p.R930I; 5:132618111-132618111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416G>A; p.R139Q; 5:132587638-132587638	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2812C>T; p.R938*; 5:132618134-132618134	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1530T>A; p.I510I; 5:132595022-132595022	central_nervous_system; brain	glioma	Substitution - coding silent
c.1787T>A; p.M596K; 5:132595807-132595807	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3303A>G; p.E1101E; 5:132640773-132640773	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.11C>A; p.S4Y; 5:132579379-132579379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3185G>T; p.C1062F; 5:132638207-132638207	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1891G>T; p.E631*; 5:132603400-132603400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3236C>T; p.A1079V; 5:132640706-132640706	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1161G>T; p.E387D; 5:132591349-132591349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1161G>T; p.E387D; 5:132591349-132591349	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>T; p.R213C; 5:132588689-132588689	skin	malignant_melanoma	Substitution - Missense
c.3094G>A; p.E1032K; 5:132638116-132638116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1760G>A; p.R587H; 5:132595780-132595780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.32T>C; p.V11A; 5:132579400-132579400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.753A>G; p.E251E; 5:132588805-132588805	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2460A>G; p.K820K; 5:132609164-132609164	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1216A>G; p.K406E; 5:132591404-132591404	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.332C>T; p.P111L; 5:132580059-132580059	skin	malignant_melanoma	Substitution - Missense
c.174G>A; p.Q58Q; 5:132579901-132579901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.652G>C; p.A218P; 5:132588704-132588704	prostate	carcinoma	Substitution - Missense
c.2794C>T; p.H932Y; 5:132618116-132618116	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3326C>G; p.A1109G; 5:132640796-132640796	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3494T>C; p.V1165A; 5:132642336-132642336	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3494T>C; p.V1165A; 5:132642336-132642336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.127G>A; p.A43T; 5:132579495-132579495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.985G>A; p.E329K; 5:132589787-132589787	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2100A>T; p.L700F; 5:132604039-132604039	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1857T>C; p.N619N; 5:132603366-132603366	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2108T>C; p.V703A; 5:132604806-132604806	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.769T>C; p.F257L; 5:132588821-132588821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3182G>A; p.R1061Q; 5:132638204-132638204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1759C>T; p.R587C; 5:132595779-132595779	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.913G>A; p.E305K; 5:132589715-132589715	breast	carcinoma	Substitution - Missense
c.737G>A; p.R246H; 5:132588789-132588789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.196G>T; p.E66*; 5:132579923-132579923	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1085A>G; p.K362R; 5:132591273-132591273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.456G>T; p.E152D; 5:132587678-132587678	breast	carcinoma	Substitution - Missense
c.3080G>A; p.R1027Q; 5:132638102-132638102	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>T; p.E152D; 5:132587678-132587678	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1280T>C; p.L427P; 5:132591938-132591938	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1740delA; p.K583fs*14; 5:132595760-132595760	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1971G>A; p.E657E; 5:132603480-132603480	skin	malignant_melanoma	Substitution - coding silent
c.1971G>A; p.E657E; 5:132603480-132603480	skin	malignant_melanoma	Substitution - coding silent
c.3153G>T; p.K1051N; 5:132638175-132638175	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>A; p.A769T; 5:132608618-132608618	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.119delT; p.S42fs*9; 5:132579487-132579487	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1923T>C; p.P641P; 5:132603432-132603432	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2899G>C; p.E967Q; 5:132618221-132618221	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2512G>T; p.E838*; 5:132609289-132609289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2272G>A; p.E758K; 5:132604970-132604970	skin	malignant_melanoma	Substitution - Missense
c.2369_2372delTAAT; p.L790fs*10; 5:132608682-132608685	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.3025C>T; p.R1009C; 5:132637167-132637167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.343C>T; p.R115C; 5:132587565-132587565	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2805A>G; p.A935A; 5:132618127-132618127	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1550G>A; p.R517Q; 5:132595042-132595042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2220T>C; p.T740T; 5:132604918-132604918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3079C>T; p.R1027W; 5:132638101-132638101	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1020G>T; p.Q340H; 5:132589822-132589822	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4A>T; p.I2F; 5:132579372-132579372	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2798A>G; p.N933S; 5:132618120-132618120	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2798A>G; p.N933S; 5:132618120-132618120	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1073T>C; p.V358A; 5:132591261-132591261	breast	carcinoma	Substitution - Missense
c.1789A>C; p.R597R; 5:132595809-132595809	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2943T>G; p.D981E; 5:132618265-132618265	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2953T>G; p.Y985D; 5:132618275-132618275	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1219-1G>A; p.?; 5:132591876-132591876	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3137G>A; p.R1046Q; 5:132638159-132638159	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.475C>T; p.Q159*; 5:132587930-132587930	skin	malignant_melanoma	Substitution - Nonsense
c.3475G>C; p.E1159Q; 5:132642317-132642317	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.475C>T; p.Q159*; 5:132587930-132587930	skin; mucosal	malignant_melanoma	Substitution - Nonsense
c.874G>C; p.E292Q; 5:132589676-132589676	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3153G>A; p.K1051K; 5:132638175-132638175	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3223C>T; p.R1075C; 5:132640693-132640693	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3223C>T; p.R1075C; 5:132640693-132640693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3340A>C; p.I1114L; 5:132642182-132642182	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1427T>G; p.L476R; 5:132594919-132594919	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1740_1741insA; p.E584fs*5; 5:132595760-132595761	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1057G>A; p.E353K; 5:132591245-132591245	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1282T>A; p.L428M; 5:132591940-132591940	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1057G>A; p.E353K; 5:132591245-132591245	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3316C>T; p.L1106F; 5:132640786-132640786	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2377delA; p.N795fs*6; 5:132608690-132608690	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1007T>C; p.L336P; 5:132589809-132589809	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2377delA; p.N795fs*6; 5:132608690-132608690	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.968A>T; p.Y323F; 5:132589770-132589770	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3104C>T; p.S1035L; 5:132638126-132638126	liver	carcinoma	Substitution - Missense
c.1699C>T; p.R567*; 5:132595719-132595719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3104C>T; p.S1035L; 5:132638126-132638126	liver	carcinoma	Substitution - Missense
c.2446C>A; p.H816N; 5:132609150-132609150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1219-1G>T; p.?; 5:132591876-132591876	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.1219-1G>T; p.?; 5:132591876-132591876	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.675C>T; p.I225I; 5:132588727-132588727	skin	malignant_melanoma	Substitution - coding silent
c.3409C>T; p.L1137F; 5:132642251-132642251	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3409C>T; p.L1137F; 5:132642251-132642251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675C>T; p.I225I; 5:132588727-132588727	skin	malignant_melanoma	Substitution - coding silent
c.3320C>T; p.A1107V; 5:132640790-132640790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3214C>T; p.L1072F; 5:132640684-132640684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.Q550*; 5:132595668-132595668	skin	malignant_melanoma	Substitution - Nonsense
c.1453A>G; p.S485G; 5:132594945-132594945	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.600C>A; p.L200L; 5:132588055-132588055	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3441C>A; p.F1147L; 5:132642283-132642283	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.Q550*; 5:132595668-132595668	skin	malignant_melanoma	Substitution - Nonsense
c.2833G>A; p.E945K; 5:132618155-132618155	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2149C>T; p.Q717*; 5:132604847-132604847	liver	carcinoma	Substitution - Nonsense
c.2149C>T; p.Q717*; 5:132604847-132604847	liver	carcinoma	Substitution - Nonsense
c.1252T>C; p.S418P; 5:132591910-132591910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1361G>C; p.R454T; 5:132592019-132592019	oesophagus	carcinoma	Substitution - Missense
c.135-2A>G; p.?; 5:132579860-132579860	skin	malignant_melanoma	Unknown
c.2132G>A; p.R711H; 5:132604830-132604830	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.160C>T; p.R54W; 5:132579887-132579887	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3361C>T; p.R1121C; 5:132642203-132642203	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2860C>T; p.R954*; 5:132618182-132618182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3123G>A; p.R1041R; 5:132638145-132638145	skin	malignant_melanoma	Substitution - coding silent
c.3123G>A; p.R1041R; 5:132638145-132638145	skin	malignant_melanoma	Substitution - coding silent
c.2894A>G; p.Y965C; 5:132618216-132618216	thyroid	other; neoplasm	Substitution - Missense
c.1626C>T; p.C542C; 5:132595646-132595646	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740A>T; p.L580L; 5:132595760-132595760	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.891_895delAACTG; p.L300fs*4; 5:132589693-132589697	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.891_895delAACTG; p.L300fs*4; 5:132589693-132589697	pancreas	carcinoma	Deletion - Frameshift
c.2992A>G; p.S998G; 5:132637134-132637134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2376_2377insA; p.N795fs*10; 5:132608689-132608690	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.2341G>A; p.E781K; 5:132608654-132608654	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2376_2377insA; p.N795fs*10; 5:132608689-132608690	autonomic_ganglia	neuroblastoma	Insertion - Frameshift
c.2376_2377insA; p.N795fs*10; 5:132608689-132608690	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2233C>T; p.R745C; 5:132604931-132604931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.265A>G; p.T89A; 5:132579992-132579992	liver	carcinoma	Substitution - Missense
c.1219-1G>T; p.?; 5:132591876-132591876	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.1219-1G>T; p.?; 5:132591876-132591876	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.265A>G; p.T89A; 5:132579992-132579992	liver	carcinoma	Substitution - Missense
c.667G>C; p.E223Q; 5:132588719-132588719	breast	carcinoma	Substitution - Missense
c.3463G>A; p.D1155N; 5:132642305-132642305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2892G>A; p.K964K; 5:132618214-132618214	thyroid	other; neoplasm	Substitution - coding silent
c.1088T>C; p.M363T; 5:132591276-132591276	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2147A>G; p.D716G; 5:132604845-132604845	central_nervous_system; brain	glioma	Substitution - Missense
c.3250C>T; p.L1084F; 5:132640720-132640720	skin	malignant_melanoma	Substitution - Missense
c.1961C>G; p.T654R; 5:132603470-132603470	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2876G>T; p.R959L; 5:132618198-132618198	skin	malignant_melanoma	Substitution - Missense
c.3264C>T; p.I1088I; 5:132640734-132640734	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2803G>A; p.A935T; 5:132618125-132618125	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1739_1740insA; p.E584fs*5; 5:132595759-132595760	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1739_1740insA; p.E584fs*5; 5:132595759-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1096A>G; p.I366V; 5:132591284-132591284	prostate	adenoma	Substitution - Missense
c.1739_1740insA; p.E584fs*5; 5:132595759-132595760	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1739_1740insA; p.E584fs*5; 5:132595759-132595760	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1739_1740insA; p.E584fs*5; 5:132595759-132595760	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1739_1740insA; p.E584fs*5; 5:132595759-132595760	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1549C>T; p.R517*; 5:132595041-132595041	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.2680G>T; p.E894*; 5:132616063-132616063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3099T>G; p.N1033K; 5:132638121-132638121	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2502G>A; p.K834K; 5:132609206-132609206	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2895T>G; p.Y965*; 5:132618217-132618217	thyroid	other; neoplasm	Substitution - Nonsense
c.2002A>C; p.R668R; 5:132603941-132603941	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.954G>A; p.L318L; 5:132589756-132589756	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2127G>A; p.L709L; 5:132604825-132604825	breast	carcinoma	Substitution - coding silent
c.1139G>A; p.R380H; 5:132591327-132591327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3003G>A; p.M1001I; 5:132637145-132637145	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3327T>C; p.A1109A; 5:132640797-132640797	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3327T>C; p.A1109A; 5:132640797-132640797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3327T>C; p.A1109A; 5:132640797-132640797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1609G>T; p.E537*; 5:132595629-132595629	central_nervous_system; cerebrum	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2876G>A; p.R959Q; 5:132618198-132618198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1253C>A; p.S418Y; 5:132591911-132591911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.945G>A; p.Q315Q; 5:132589747-132589747	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1256G>T; p.R419M; 5:132591914-132591914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3205T>C; p.L1069L; 5:132640675-132640675	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2627A>T; p.E876V; 5:132616010-132616010	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1065C>G; p.N355K; 5:132591253-132591253	liver	carcinoma	Substitution - Missense
c.2861G>A; p.R954Q; 5:132618183-132618183	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1921C>T; p.P641S; 5:132603430-132603430	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.68C>A; p.S23Y; 5:132579436-132579436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2909T>C; p.I970T; 5:132618231-132618231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1428delA; p.R478fs*26; 5:132594920-132594920	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1823T>A; p.I608K; 5:132603332-132603332	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2707T>G; p.L903V; 5:132616090-132616090	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.876G>C; p.E292D; 5:132589678-132589678	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3280C>T; p.P1094S; 5:132640750-132640750	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1151A>G; p.Q384R; 5:132591339-132591339	urinary_tract; bladder	carcinoma	Substitution - Missense
c.45C>T; p.V15V; 5:132579413-132579413	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1909G>A; p.G637S; 5:132603418-132603418	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3260G>T; p.G1087V; 5:132640730-132640730	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.756A>G; p.R252R; 5:132588808-132588808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569C>T; p.A523A; 5:132595589-132595589	skin	malignant_melanoma	Substitution - coding silent
c.1699C>G; p.R567G; 5:132595719-132595719	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1905C>A; p.L635L; 5:132603414-132603414	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1561G>T; p.A521S; 5:132595581-132595581	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3418C>T; p.R1140C; 5:132642260-132642260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1561G>T; p.A521S; 5:132595581-132595581	liver	carcinoma	Substitution - Missense
c.2051G>A; p.R684Q; 5:132603990-132603990	skin	malignant_melanoma	Substitution - Missense
c.969T>G; p.Y323*; 5:132589771-132589771	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.3091G>A; p.D1031N; 5:132638113-132638113	skin	malignant_melanoma	Substitution - Missense
c.655G>C; p.D219H; 5:132588707-132588707	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.47T>G; p.I16S; 5:132579415-132579415	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2769G>T; p.E923D; 5:132618091-132618091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3076A>G; p.I1026V; 5:132638098-132638098	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1993G>T; p.D665Y; 5:132603932-132603932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2842C>A; p.H948N; 5:132618164-132618164	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2875C>T; p.R959W; 5:132618197-132618197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3289A>G; p.N1097D; 5:132640759-132640759	liver	carcinoma	Substitution - Missense
c.3289A>G; p.N1097D; 5:132640759-132640759	liver	carcinoma	Substitution - Missense
c.828G>A; p.M276I; 5:132588880-132588880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3125_3126insT; p.Y1043fs*2; 5:132638147-132638148	liver	carcinoma	Insertion - Frameshift
c.2819A>C; p.K940T; 5:132618141-132618141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2803G>T; p.A935S; 5:132618125-132618125	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]