Entrez Gene

Basic Information
Gene ID	9365
Name	KL
Synonymous	klotho;KL;klotho
Definition	-
Position	13q12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2172G>A; p.G724G; 13:33061251-33061251	skin	malignant_melanoma	Substitution - coding silent
c.1150A>G; p.M384V; 13:33054097-33054097	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949C>G; p.Q317E; 13:33053896-33053896	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1712A>G; p.Y571C; 13:33060791-33060791	breast	carcinoma	Substitution - Missense
c.905G>A; p.W302*; 13:33053852-33053852	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2755G>A; p.D919N; 13:33063902-33063902	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1408T>C; p.Y470H; 13:33055124-33055124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1383G>A; p.M461I; 13:33055099-33055099	skin	malignant_melanoma	Substitution - Missense
c.913C>T; p.P305S; 13:33053860-33053860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.754C>T; p.R252C; 13:33017194-33017194	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2803T>A; p.F935I; 13:33063950-33063950	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1559C>T; p.P520L; 13:33055275-33055275	skin	malignant_melanoma	Substitution - Missense
c.1848G>A; p.L616L; 13:33060927-33060927	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2861C>T; p.P954L; 13:33064008-33064008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2861C>T; p.P954L; 13:33064008-33064008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.290C>T; p.P97L; 13:33016730-33016730	skin	malignant_melanoma	Substitution - Missense
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2461C>G; p.P821A; 13:33061540-33061540	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1936G>A; p.G646R; 13:33061015-33061015	skin	malignant_melanoma	Substitution - Missense
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2481delC; p.L828fs*1; 13:33061560-33061560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1280A>G; p.D427G; 13:33054227-33054227	ovary	other; neoplasm	Substitution - Missense
c.2922T>C; p.S974S; 13:33064069-33064069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2376T>C; p.D792D; 13:33061455-33061455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1519C>T; p.P507S; 13:33055235-33055235	skin	malignant_melanoma	Substitution - Missense
c.2862G>A; p.P954P; 13:33064009-33064009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1824G>C; p.Q608H; 13:33060903-33060903	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1293G>T; p.M431I; 13:33054240-33054240	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.684C>T; p.G228G; 13:33017124-33017124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.956C>T; p.S319F; 13:33053903-33053903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1420C>A; p.R474S; 13:33055136-33055136	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1810C>T; p.P604S; 13:33060889-33060889	skin	malignant_melanoma	Substitution - Missense
c.2747C>T; p.S916L; 13:33063894-33063894	skin	malignant_melanoma	Substitution - Missense
c.2747C>T; p.S916L; 13:33063894-33063894	skin	malignant_melanoma	Substitution - Missense
c.2840T>G; p.I947S; 13:33063987-33063987	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2582T>C; p.F861S; 13:33061661-33061661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.490G>C; p.V164L; 13:33016930-33016930	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2367C>T; p.F789F; 13:33061446-33061446	skin	malignant_melanoma	Substitution - coding silent
c.499C>T; p.R167C; 13:33016939-33016939	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2211T>C; p.P737P; 13:33061290-33061290	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.2583C>T; p.F861F; 13:33061662-33061662	skin	malignant_melanoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.F464F; 13:33055108-33055108	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1811C>A; p.P604H; 13:33060890-33060890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1010A>C; p.Y337S; 13:33053957-33053957	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.249C>T; p.H83H; 13:33016689-33016689	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2078G>A; p.R693K; 13:33061157-33061157	skin	malignant_melanoma	Substitution - Missense
c.2378delA; p.K795fs*2; 13:33061457-33061457	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2378delA; p.K795fs*2; 13:33061457-33061457	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1603G>C; p.D535H; 13:33060682-33060682	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.E339G; 13:33053963-33053963	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1701G>A; p.K567K; 13:33060780-33060780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2993C>G; p.S998C; 13:33064140-33064140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2993C>G; p.S998C; 13:33064140-33064140	breast	carcinoma	Substitution - Missense
c.2377G>A; p.E793K; 13:33061456-33061456	skin	malignant_melanoma	Substitution - Missense
c.1858C>T; p.R620C; 13:33060937-33060937	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2079G>T; p.R693S; 13:33061158-33061158	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2374G>A; p.D792N; 13:33061453-33061453	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2436C>T; p.I812I; 13:33061515-33061515	skin	malignant_melanoma	Substitution - coding silent
c.2436C>T; p.I812I; 13:33061515-33061515	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1722C>T; p.D574D; 13:33060801-33060801	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1068_1069insA; p.F359fs*7; 13:33054015-33054016	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.455C>T; p.S152L; 13:33016895-33016895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2829T>G; p.H943Q; 13:33063976-33063976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.455C>T; p.S152L; 13:33016895-33016895	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1780C>T; p.R594C; 13:33060859-33060859	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1759G>A; p.E587K; 13:33060838-33060838	skin	malignant_melanoma	Substitution - Missense
c.1809C>T; p.L603L; 13:33060888-33060888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2701+1G>T; p.?; 13:33061781-33061781	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.2727T>C; p.L909L; 13:33063874-33063874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2642C>G; p.A881G; 13:33061721-33061721	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2759G>A; p.R920H; 13:33063906-33063906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2759G>A; p.R920H; 13:33063906-33063906	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2059A>G; p.M687V; 13:33061138-33061138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2759G>A; p.R920H; 13:33063906-33063906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.930C>T; p.D310D; 13:33053877-33053877	skin	malignant_melanoma	Substitution - coding silent
c.618C>T; p.G206G; 13:33017058-33017058	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2558G>A; p.R853H; 13:33061637-33061637	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2048T>G; p.L683R; 13:33061127-33061127	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2458G>C; p.D820H; 13:33061537-33061537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.772C>T; p.R258W; 13:33017212-33017212	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1873G>A; p.E625K; 13:33060952-33060952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1873G>A; p.E625K; 13:33060952-33060952	skin	malignant_melanoma	Substitution - Missense
c.2615C>T; p.S872F; 13:33061694-33061694	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2987C>A; p.S996Y; 13:33064134-33064134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2987C>A; p.S996Y; 13:33064134-33064134	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2987C>A; p.S996Y; 13:33064134-33064134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2019C>T; p.C673C; 13:33061098-33061098	skin	malignant_melanoma	Substitution - coding silent
c.403G>A; p.D135N; 13:33016843-33016843	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1433A>C; p.Y478S; 13:33055149-33055149	ovary	other; neoplasm	Substitution - Missense
c.1185G>C; p.R395S; 13:33054132-33054132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.449C>T; p.S150F; 13:33016889-33016889	kidney	other; neoplasm	Substitution - Missense
c.606C>T; p.D202D; 13:33017046-33017046	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2040C>T; p.H680H; 13:33061119-33061119	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2922delT; p.H977fs*10; 13:33064069-33064069	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1265C>A; p.T422N; 13:33054212-33054212	ovary	other; neoplasm	Substitution - Missense
c.1467G>T; p.L489F; 13:33055183-33055183	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2009C>T; p.A670V; 13:33061088-33061088	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2631C>T; p.D877D; 13:33061710-33061710	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.342G>A; p.P114P; 13:33016782-33016782	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2882G>C; p.R961T; 13:33064029-33064029	breast	carcinoma	Substitution - Missense
c.1272G>A; p.K424K; 13:33054219-33054219	skin	malignant_melanoma	Substitution - coding silent
c.2011C>T; p.R671*; 13:33061090-33061090	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2011C>T; p.R671*; 13:33061090-33061090	skin	malignant_melanoma	Substitution - Nonsense
c.2535G>A; p.V845V; 13:33061614-33061614	skin	malignant_melanoma	Substitution - coding silent
c.1735C>A; p.Q579K; 13:33060814-33060814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2535G>A; p.V845V; 13:33061614-33061614	skin	malignant_melanoma	Substitution - coding silent
c.205G>T; p.V69L; 13:33016645-33016645	thyroid	other; neoplasm	Substitution - Missense
c.1152G>A; p.M384I; 13:33054099-33054099	urinary_tract; bladder	carcinoma	Substitution - Missense
c.917G>A; p.R306Q; 13:33053864-33053864	skin	malignant_melanoma	Substitution - Missense
c.917G>A; p.R306Q; 13:33053864-33053864	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2146G>A; p.E716K; 13:33061225-33061225	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2133G>T; p.W711C; 13:33061212-33061212	skin	malignant_melanoma	Substitution - Missense
c.2302G>A; p.G768R; 13:33061381-33061381	breast	carcinoma	Substitution - Missense
c.2951C>T; p.A984V; 13:33064098-33064098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1826C>T; p.S609F; 13:33060905-33060905	skin	malignant_melanoma	Substitution - Missense
c.307G>A; p.D103N; 13:33016747-33016747	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3032A>G; p.Y1011C; 13:33064179-33064179	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3032A>G; p.Y1011C; 13:33064179-33064179	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1709C>T; p.S570F; 13:33060788-33060788	skin	malignant_melanoma	Substitution - Missense
c.1709C>T; p.S570F; 13:33060788-33060788	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2865C>T; p.G955G; 13:33064012-33064012	skin	malignant_melanoma	Substitution - coding silent
c.1709C>T; p.S570F; 13:33060788-33060788	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476G>T; p.D826Y; 13:33061555-33061555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1929G>A; p.P643P; 13:33061008-33061008	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>A; p.F464L; 13:33055108-33055108	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1392C>A; p.F464L; 13:33055108-33055108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1830G>A; p.Q610Q; 13:33060909-33060909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1932C>T; p.N644N; 13:33061011-33061011	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.520C>T; p.R174W; 13:33016960-33016960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2786G>A; p.R929H; 13:33063933-33063933	central_nervous_system; brain	glioma	Substitution - Missense
c.771C>G; p.I257M; 13:33017211-33017211	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.739G>A; p.G247S; 13:33017179-33017179	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2455G>T; p.E819*; 13:33061534-33061534	skin	malignant_melanoma	Substitution - Nonsense
c.1291A>G; p.M431V; 13:33054238-33054238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3026G>A; p.R1009K; 13:33064173-33064173	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2789A>G; p.Y930C; 13:33063936-33063936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1085G>A; p.G362E; 13:33054032-33054032	skin	malignant_melanoma	Substitution - Missense
c.2342G>T; p.R781I; 13:33061421-33061421	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.G228S; 13:33017122-33017122	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1311C>A; p.F437L; 13:33054258-33054258	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1311C>A; p.F437L; 13:33054258-33054258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1872C>T; p.S624S; 13:33060951-33060951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2896G>T; p.E966*; 13:33064043-33064043	breast	carcinoma	Substitution - Nonsense
c.1099T>G; p.F367V; 13:33054046-33054046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1013C>T; p.P338L; 13:33053960-33053960	skin	malignant_melanoma	Substitution - Missense
c.1919C>A; p.P640H; 13:33060998-33060998	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2800C>T; p.Q934*; 13:33063947-33063947	skin	malignant_melanoma	Substitution - Nonsense
c.1012C>T; p.P338S; 13:33053959-33053959	skin	malignant_melanoma	Substitution - Missense
c.2161G>T; p.A721S; 13:33061240-33061240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1950C>T; p.L650L; 13:33061029-33061029	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2353C>A; p.L785I; 13:33061432-33061432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1950C>T; p.L650L; 13:33061029-33061029	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1950C>T; p.L650L; 13:33061029-33061029	skin	malignant_melanoma	Substitution - coding silent
c.2342G>A; p.R781K; 13:33061421-33061421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2447C>T; p.S816L; 13:33061526-33061526	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1846C>A; p.L616M; 13:33060925-33060925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>A; p.G372E; 13:33054062-33054062	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.987A>G; p.K329K; 13:33053934-33053934	skin	malignant_melanoma	Substitution - coding silent
c.1603G>A; p.D535N; 13:33060682-33060682	skin	malignant_melanoma	Substitution - Missense
c.765C>T; p.P255P; 13:33017205-33017205	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.927C>T; p.T309T; 13:33053874-33053874	skin	malignant_melanoma	Substitution - coding silent
c.1412G>T; p.S471I; 13:33055128-33055128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2166G>T; p.Q722H; 13:33061245-33061245	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1412G>T; p.S471I; 13:33055128-33055128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2219C>A; p.P740H; 13:33061298-33061298	skin	malignant_melanoma	Substitution - Missense
c.2600C>T; p.P867L; 13:33061679-33061679	skin	malignant_melanoma	Substitution - Missense
c.1788C>T; p.S596S; 13:33060867-33060867	skin	malignant_melanoma	Substitution - coding silent
c.1388G>A; p.G463D; 13:33055104-33055104	skin	malignant_melanoma	Substitution - Missense
c.1788C>T; p.S596S; 13:33060867-33060867	skin	malignant_melanoma	Substitution - coding silent
c.1444C>T; p.L482L; 13:33055160-33055160	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2658G>A; p.L886L; 13:33061737-33061737	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1843A>G; p.I615V; 13:33060922-33060922	breast	carcinoma	Substitution - Missense
c.2901C>A; p.F967L; 13:33064048-33064048	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2227C>T; p.Q743*; 13:33061306-33061306	skin	malignant_melanoma	Substitution - Nonsense
c.658G>A; p.A220T; 13:33017098-33017098	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1210G>A; p.E404K; 13:33054157-33054157	skin	malignant_melanoma	Substitution - Missense
c.2683A>G; p.I895V; 13:33061762-33061762	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1360G>A; p.G454R; 13:33055076-33055076	pancreas	carcinoma	Substitution - Missense
c.2058G>A; p.T686T; 13:33061137-33061137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1558C>T; p.P520S; 13:33055274-33055274	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2488_2489GT>AA; p.V830K; 13:33061567-33061568	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin	malignant_melanoma	Substitution - Missense
c.1540C>T; p.P514S; 13:33055256-33055256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin	malignant_melanoma	Substitution - Missense
c.1558C>T; p.P520S; 13:33055274-33055274	skin	malignant_melanoma	Substitution - Missense
c.414G>A; p.A138A; 13:33016854-33016854	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1574G>T; p.W525L; 13:33055290-33055290	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1669C>T; p.L557F; 13:33060748-33060748	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1574G>T; p.W525L; 13:33055290-33055290	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.1669C>T; p.L557F; 13:33060748-33060748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.414G>A; p.A138A; 13:33016854-33016854	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155G>A; p.K385K; 13:33054102-33054102	thyroid	other; neoplasm	Substitution - coding silent
c.1377C>T; p.S459S; 13:33055093-33055093	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.2311C>T; p.P771S; 13:33061390-33061390	skin	malignant_melanoma	Substitution - Missense
c.358G>A; p.A120T; 13:33016798-33016798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2994C>A; p.S998S; 13:33064141-33064141	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.555G>C; p.V185V; 13:33016995-33016995	central_nervous_system; brain	glioma	Substitution - coding silent
c.1937G>A; p.G646E; 13:33061016-33061016	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1272G>C; p.K424N; 13:33054219-33054219	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1937G>A; p.G646E; 13:33061016-33061016	skin	malignant_melanoma	Substitution - Missense
c.1093G>A; p.D365N; 13:33054040-33054040	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.690G>T; p.Q230H; 13:33017130-33017130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2891C>A; p.P964Q; 13:33064038-33064038	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2012G>A; p.R671Q; 13:33061091-33061091	skin	malignant_melanoma	Substitution - Missense
c.2068C>T; p.P690S; 13:33061147-33061147	skin	malignant_melanoma	Substitution - Missense
c.1303delA; p.K436fs*7; 13:33054250-33054250	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1029T>A; p.N343K; 13:33053976-33053976	skin	malignant_melanoma	Substitution - Missense
c.2936G>A; p.R979Q; 13:33064083-33064083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.664C>T; p.L222F; 13:33017104-33017104	skin	malignant_melanoma	Substitution - Missense
c.2837A>C; p.K946T; 13:33063984-33063984	skin	malignant_melanoma	Substitution - Missense
c.1276G>A; p.D426N; 13:33054223-33054223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1986T>A; p.T662T; 13:33061065-33061065	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1240G>A; p.E414K; 13:33054187-33054187	skin	malignant_melanoma	Substitution - Missense
c.1123T>G; p.L375V; 13:33054070-33054070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1240G>A; p.E414K; 13:33054187-33054187	skin; scalp	malignant_melanoma	Substitution - Missense
c.1240G>A; p.E414K; 13:33054187-33054187	skin	malignant_melanoma	Substitution - Missense
c.1240G>A; p.E414K; 13:33054187-33054187	skin	malignant_melanoma	Substitution - Missense
c.1670T>C; p.L557P; 13:33060749-33060749	skin	malignant_melanoma	Substitution - Missense
c.273T>C; p.D91D; 13:33016713-33016713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.273T>C; p.D91D; 13:33016713-33016713	thyroid	other; neoplasm	Substitution - coding silent
c.273T>C; p.D91D; 13:33016713-33016713	thyroid	other; neoplasm	Substitution - coding silent
c.363C>T; p.T121T; 13:33016803-33016803	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2186C>T; p.A729V; 13:33061265-33061265	skin	malignant_melanoma	Substitution - Missense
c.1647G>A; p.W549*; 13:33060726-33060726	skin; upper_arm	malignant_melanoma	Substitution - Nonsense
c.2764G>A; p.A922T; 13:33063911-33063911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1768G>A; p.V590I; 13:33060847-33060847	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1757A>G; p.Q586R; 13:33060836-33060836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>G; p.R175G; 13:33016963-33016963	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1054T>G; p.F352V; 13:33054001-33054001	thyroid	other; neoplasm	Substitution - Missense
c.935G>A; p.S312N; 13:33053882-33053882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1298A>G; p.Y433C; 13:33054245-33054245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.R210C; 13:33017068-33017068	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1954G>A; p.A652T; 13:33061033-33061033	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1787C>T; p.S596F; 13:33060866-33060866	skin	malignant_melanoma	Substitution - Missense
c.2758C>A; p.R920S; 13:33063905-33063905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2955C>T; p.F985F; 13:33064102-33064102	skin	malignant_melanoma	Substitution - coding silent
c.1887C>T; p.V629V; 13:33060966-33060966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2620G>A; p.G874R; 13:33061699-33061699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1576G>A; p.G526R; 13:33055292-33055292	skin	malignant_melanoma	Substitution - Missense
c.614G>A; p.G205D; 13:33017054-33017054	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense

COSMIC somatic mutation [Top]