Entrez Gene

Basic Information
Gene ID	4041
Name	LRP5
Synonymous	low density lipoprotein receptor-related protein 5;LRP5;low density lipoprotein receptor-related protein 5
Definition	low density lipoprotein receptor-related protein 7\|low-density lipoprotein receptor-related protein 5
Position	11q13.4
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2431A>G; p.I811V; 11:68411548-68411548	liver	carcinoma	Substitution - Missense
c.4503G>A; p.P1501P; 11:68446450-68446450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2431A>G; p.I811V; 11:68411548-68411548	liver	carcinoma	Substitution - Missense
c.1122C>T; p.H374H; 11:68386422-68386422	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4099G>A; p.E1367K; 11:68436987-68436987	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1211G>C; p.G404A; 11:68386511-68386511	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.664G>A; p.A222T; 11:68357825-68357825	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2338T>C; p.W780R; 11:68411455-68411455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4128C>G; p.P1376P; 11:68438462-68438462	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3813C>T; p.I1271I; 11:68433651-68433651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3813C>T; p.I1271I; 11:68433651-68433651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3244T>C; p.Y1082H; 11:68425109-68425109	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4187C>T; p.S1396F; 11:68438521-68438521	thyroid	other; neoplasm	Substitution - Missense
c.4622C>T; p.T1541M; 11:68448844-68448844	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3732C>T; p.L1244L; 11:68429669-68429669	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2829G>A; p.P943P; 11:68416329-68416329	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2829G>A; p.P943P; 11:68416329-68416329	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4623G>A; p.T1541T; 11:68448845-68448845	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3453C>T; p.D1151D; 11:68426003-68426003	prostate	carcinoma	Substitution - coding silent
c.3835C>T; p.R1279C; 11:68433673-68433673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3826G>A; p.G1276R; 11:68433664-68433664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4575G>A; p.A1525A; 11:68446522-68446522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4065C>T; p.C1355C; 11:68436953-68436953	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2696G>A; p.R899H; 11:68413881-68413881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3920G>C; p.R1307P; 11:68433758-68433758	thyroid	carcinoma	Substitution - Missense
c.2235G>A; p.A745A; 11:68410057-68410057	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2235G>A; p.A745A; 11:68410057-68410057	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2919G>T; p.L973L; 11:68416419-68416419	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2547C>T; p.F849F; 11:68413732-68413732	skin	malignant_melanoma	Substitution - coding silent
c.3228G>A; p.A1076A; 11:68423689-68423689	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4831T>C; p.C1611R; 11:68449053-68449053	pancreas	carcinoma	Substitution - Missense
c.802delG; p.K270fs*6; 11:68363862-68363862	NS	malignant_melanoma	Deletion - Frameshift
c.3940C>T; p.R1314C; 11:68433778-68433778	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.868G>A; p.E290K; 11:68363928-68363928	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1029G>A; p.V343V; 11:68386329-68386329	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.884-4T>C; p.?; 11:68365567-68365567	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.4659C>T; p.S1553S; 11:68448881-68448881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4659C>T; p.S1553S; 11:68448881-68448881	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.964G>A; p.A322T; 11:68365651-68365651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2082C>T; p.V694V; 11:68406804-68406804	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1684G>C; p.D562H; 11:68403582-68403582	urinary_tract; bladder	carcinoma	Substitution - Missense
c.422C>T; p.S141F; 11:68348177-68348177	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.295G>A; p.V99M; 11:68348050-68348050	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3946C>T; p.R1316C; 11:68433784-68433784	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2363G>A; p.R788Q; 11:68411480-68411480	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3222C>A; p.V1074V; 11:68423683-68423683	skin	malignant_melanoma	Substitution - coding silent
c.3585C>T; p.V1195V; 11:68426135-68426135	skin	malignant_melanoma	Substitution - coding silent
c.4183_4184delCT; p.F1398fs*151; 11:68438517-68438518	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1346C>A; p.S449Y; 11:68386646-68386646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2345G>A; p.G782D; 11:68411462-68411462	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3499C>A; p.L1167I; 11:68426049-68426049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1096G>A; p.V366M; 11:68386396-68386396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308C>T; p.P770S; 11:68410130-68410130	skin; trunk	malignant_melanoma	Substitution - Missense
c.1191C>T; p.I397I; 11:68386491-68386491	skin	malignant_melanoma	Substitution - coding silent
c.487G>A; p.G163R; 11:68348242-68348242	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.33_35delGCT; p.L20delL; 11:68312747-68312749	skin	malignant_melanoma	Deletion - In frame
c.2194C>A; p.L732I; 11:68410016-68410016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1191C>T; p.I397I; 11:68386491-68386491	skin	malignant_melanoma	Substitution - coding silent
c.595G>A; p.G199R; 11:68357756-68357756	skin	malignant_melanoma	Substitution - Missense
c.2499G>A; p.M833I; 11:68411616-68411616	pancreas	carcinoma	Substitution - Missense
c.3991G>A; p.D1331N; 11:68433829-68433829	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1483C>T; p.R495C; 11:68389951-68389951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.340G>A; p.A114T; 11:68348095-68348095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.292G>A; p.A98T; 11:68348047-68348047	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.316G>A; p.G106S; 11:68348071-68348071	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.913G>A; p.G305S; 11:68365600-68365600	breast	carcinoma	Substitution - Missense
c.1645T>A; p.F549I; 11:68403543-68403543	skin	malignant_melanoma	Substitution - Missense
c.1134C>T; p.I378I; 11:68386434-68386434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2115C>T; p.N705N; 11:68409937-68409937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4455C>T; p.S1485S; 11:68439883-68439883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3828G>A; p.G1276G; 11:68433666-68433666	skin	malignant_melanoma	Substitution - coding silent
c.2680G>A; p.V894M; 11:68413865-68413865	pancreas	carcinoma	Substitution - Missense
c.915_916delCT; p.C306fs*31; 11:68365602-68365603	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.4734G>A; p.T1578T; 11:68448956-68448956	pancreas	NS	Substitution - coding silent
c.4734G>A; p.T1578T; 11:68448956-68448956	pancreas	carcinoma	Substitution - coding silent
c.4641G>T; p.V1547V; 11:68448863-68448863	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2886C>T; p.D962D; 11:68416386-68416386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2213G>A; p.G738E; 11:68410035-68410035	skin	malignant_melanoma	Substitution - Missense
c.3286G>A; p.A1096T; 11:68425151-68425151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3958G>A; p.E1320K; 11:68433796-68433796	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.287G>A; p.G96E; 11:68348042-68348042	skin	malignant_melanoma	Substitution - Missense
c.3877G>A; p.E1293K; 11:68433715-68433715	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3877G>A; p.E1293K; 11:68433715-68433715	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3142A>G; p.I1048V; 11:68423603-68423603	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2103C>T; p.R701R; 11:68409925-68409925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3655C>T; p.R1219C; 11:68429592-68429592	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4714C>A; p.P1572T; 11:68448936-68448936	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3748C>T; p.L1250L; 11:68429685-68429685	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3241C>A; p.L1081M; 11:68425106-68425106	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1392C>T; p.I464I; 11:68386692-68386692	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2946C>T; p.I982I; 11:68416446-68416446	skin; upper_back	malignant_melanoma	Substitution - coding silent
c.762C>T; p.D254D; 11:68363822-68363822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2695C>T; p.R899C; 11:68413880-68413880	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2002G>A; p.A668T; 11:68406724-68406724	skin	malignant_melanoma	Substitution - Missense
c.2010G>T; p.P670P; 11:68406732-68406732	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3336C>G; p.I1112M; 11:68425201-68425201	skin	malignant_melanoma	Substitution - Missense
c.2538G>A; p.P846P; 11:68413723-68413723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1264G>A; p.A422T; 11:68386564-68386564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664C>T; p.F888F; 11:68413849-68413849	skin	malignant_melanoma	Substitution - coding silent
c.2261T>C; p.V754A; 11:68410083-68410083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3454G>A; p.A1152T; 11:68426004-68426004	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1764G>C; p.L588L; 11:68403662-68403662	breast	carcinoma	Substitution - coding silent
c.1529T>A; p.L510Q; 11:68389997-68389997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.A242T; 11:68363784-68363784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4096G>A; p.D1366N; 11:68436984-68436984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3129G>A; p.E1043E; 11:68423590-68423590	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2220C>T; p.N740N; 11:68410042-68410042	thyroid	other; neoplasm	Substitution - coding silent
c.2718T>C; p.C906C; 11:68413903-68413903	pancreas	carcinoma	Substitution - coding silent
c.1697G>A; p.R566H; 11:68403595-68403595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3554G>T; p.G1185V; 11:68426104-68426104	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1738G>A; p.V580I; 11:68403636-68403636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4089C>T; p.D1363D; 11:68436977-68436977	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4089C>T; p.D1363D; 11:68436977-68436977	kidney	other; neoplasm	Substitution - coding silent
c.4041G>C; p.Q1347H; 11:68436929-68436929	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4825T>A; p.S1609T; 11:68449047-68449047	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3853G>A; p.E1285K; 11:68433691-68433691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4660G>C; p.A1554P; 11:68448882-68448882	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.713C>T; p.T238M; 11:68363773-68363773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.171C>T; p.I57I; 11:68347926-68347926	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.171C>T; p.I57I; 11:68347926-68347926	skin	malignant_melanoma	Substitution - coding silent
c.171C>T; p.I57I; 11:68347926-68347926	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.685C>T; p.R229W; 11:68357846-68357846	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1816G>A; p.A606T; 11:68406538-68406538	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4095C>T; p.S1365S; 11:68436983-68436983	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4228G>A; p.V1410M; 11:68438562-68438562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4095C>T; p.S1365S; 11:68436983-68436983	stomach	adenocarcinoma	Substitution - coding silent
c.4423C>T; p.R1475W; 11:68439851-68439851	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4095C>T; p.S1365S; 11:68436983-68436983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4143G>A; p.P1381P; 11:68438477-68438477	breast	carcinoma	Substitution - coding silent
c.4649G>A; p.S1550N; 11:68448871-68448871	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2665G>A; p.V889M; 11:68413850-68413850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2777G>A; p.C926Y; 11:68413962-68413962	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4077C>T; p.P1359P; 11:68436965-68436965	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.119G>A; p.R40H; 11:68347874-68347874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1372C>G; p.L458V; 11:68386672-68386672	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1255G>A; p.D419N; 11:68386555-68386555	skin	malignant_melanoma	Substitution - Missense
c.1638G>A; p.P546P; 11:68403536-68403536	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2762C>T; p.P921L; 11:68413947-68413947	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4150A>C; p.S1384R; 11:68438484-68438484	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.686+1G>A; p.?; 11:68357848-68357848	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1889G>T; p.G630V; 11:68406611-68406611	thyroid	other; neoplasm	Substitution - Missense
c.1200G>A; p.A400A; 11:68386500-68386500	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3266G>A; p.R1089Q; 11:68425131-68425131	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.118C>T; p.R40C; 11:68347873-68347873	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1452C>T; p.I484I; 11:68389920-68389920	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1019C>T; p.A340V; 11:68386319-68386319	skin	malignant_melanoma	Substitution - Missense
c.2682G>A; p.V894V; 11:68413867-68413867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3676C>T; p.H1226Y; 11:68429613-68429613	skin	malignant_melanoma	Substitution - Missense
c.2206G>A; p.D736N; 11:68410028-68410028	pancreas	carcinoma	Substitution - Missense
c.519G>A; p.T173T; 11:68357680-68357680	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2512C>T; p.R838W; 11:68413697-68413697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.396C>T; p.I132I; 11:68348151-68348151	skin	malignant_melanoma	Substitution - coding silent
c.1089C>T; p.T363T; 11:68386389-68386389	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.3159G>A; p.L1053L; 11:68423620-68423620	skin	malignant_melanoma	Substitution - coding silent
c.2112G>T; p.M704I; 11:68409934-68409934	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2924G>C; p.G975A; 11:68416424-68416424	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4112-1G>C; p.?; 11:68438445-68438445	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2112G>T; p.M704I; 11:68409934-68409934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.218C>T; p.S73F; 11:68347973-68347973	skin	malignant_melanoma	Substitution - Missense
c.1999G>A; p.V667M; 11:68406721-68406721	skin	malignant_melanoma	Substitution - Missense
c.4002C>T; p.A1334A; 11:68436890-68436890	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3880_3881GG>AA; p.G1294N; 11:68433718-68433719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2530G>A; p.D844N; 11:68413715-68413715	skin	malignant_melanoma	Substitution - Missense
c.4759G>A; p.E1587K; 11:68448981-68448981	skin	malignant_melanoma	Substitution - Missense
c.2530G>A; p.D844N; 11:68413715-68413715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1966C>T; p.H656Y; 11:68406688-68406688	skin	malignant_melanoma	Substitution - Missense
c.561G>A; p.K187K; 11:68357722-68357722	skin	malignant_melanoma	Substitution - coding silent
c.654C>T; p.F218F; 11:68357815-68357815	breast	carcinoma	Substitution - coding silent
c.431T>C; p.V144A; 11:68348186-68348186	pancreas	carcinoma	Substitution - Missense
c.4742G>A; p.S1581N; 11:68448964-68448964	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3303C>T; p.T1101T; 11:68425168-68425168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3905A>T; p.Q1302L; 11:68433743-68433743	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3914G>A; p.C1305Y; 11:68433752-68433752	skin	malignant_melanoma	Substitution - Missense
c.4194C>T; p.F1398F; 11:68438528-68438528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2208C>T; p.D736D; 11:68410030-68410030	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3329G>A; p.G1110D; 11:68425194-68425194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4224G>A; p.Q1408Q; 11:68438558-68438558	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1647T>C; p.F549F; 11:68403545-68403545	thyroid	other; neoplasm	Substitution - coding silent
c.4247C>T; p.A1416V; 11:68438581-68438581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4247C>T; p.A1416V; 11:68438581-68438581	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3357G>A; p.V1119V; 11:68425222-68425222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3357G>A; p.V1119V; 11:68425222-68425222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4577G>T; p.R1526I; 11:68446524-68446524	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1220C>G; p.A407G; 11:68386520-68386520	skin	malignant_melanoma	Substitution - Missense
c.1248C>T; p.N416N; 11:68386548-68386548	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2605G>A; p.E869K; 11:68413790-68413790	breast	carcinoma	Substitution - Missense
c.3192G>A; p.G1064G; 11:68423653-68423653	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4822C>A; p.P1608T; 11:68449044-68449044	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.965C>T; p.A322V; 11:68365652-68365652	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3858C>T; p.C1286C; 11:68433696-68433696	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1585-7C>T; p.?; 11:68403476-68403476	oesophagus	carcinoma; adenocarcinoma	Unknown
c.286G>A; p.G96R; 11:68348041-68348041	skin	malignant_melanoma	Substitution - Missense
c.1722C>T; p.V574V; 11:68403620-68403620	ovary	other; neoplasm	Substitution - coding silent
c.1480C>T; p.R494W; 11:68389948-68389948	breast	carcinoma	Substitution - Missense
c.3546G>A; p.K1182K; 11:68426096-68426096	skin	malignant_melanoma	Substitution - coding silent
c.755G>T; p.W252L; 11:68363815-68363815	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.661C>T; p.R221C; 11:68357822-68357822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2861C>A; p.S954Y; 11:68416361-68416361	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4184T>G; p.L1395R; 11:68438518-68438518	thyroid	other; neoplasm	Substitution - Missense
c.3127G>A; p.E1043K; 11:68423588-68423588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.429G>A; p.K143K; 11:68348184-68348184	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2630G>A; p.R877Q; 11:68413815-68413815	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3792T>A; p.F1264L; 11:68433630-68433630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3511G>T; p.D1171Y; 11:68426061-68426061	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4825T>C; p.S1609P; 11:68449047-68449047	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4825T>C; p.S1609P; 11:68449047-68449047	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3738C>T; p.L1246L; 11:68429675-68429675	skin	malignant_melanoma	Substitution - coding silent
c.2104G>A; p.A702T; 11:68409926-68409926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2104G>A; p.A702T; 11:68409926-68409926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3057C>G; p.G1019G; 11:68423518-68423518	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2767G>T; p.G923C; 11:68413952-68413952	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1253C>T; p.P418L; 11:68386553-68386553	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3427+2T>C; p.?; 11:68425294-68425294	stomach	carcinoma; adenocarcinoma	Unknown
c.1253C>T; p.P418L; 11:68386553-68386553	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2134G>A; p.V712M; 11:68409956-68409956	pancreas	carcinoma	Substitution - Missense
c.335G>A; p.G112D; 11:68348090-68348090	skin	malignant_melanoma	Substitution - Missense
c.2134G>A; p.V712M; 11:68409956-68409956	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2882C>T; p.P961L; 11:68416382-68416382	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3189_3190insG; p.D1065fs*73; 11:68423650-68423651	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2239C>T; p.L747L; 11:68410061-68410061	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3760_3761GG>AC; p.G1254T; 11:68429697-68429698	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.640G>A; p.A214T; 11:68357801-68357801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4827C>T; p.S1609S; 11:68449049-68449049	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.640G>A; p.A214T; 11:68357801-68357801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1582G>A; p.E528K; 11:68390050-68390050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3961G>A; p.A1321T; 11:68433799-68433799	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4407G>T; p.G1469G; 11:68439835-68439835	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2013C>T; p.L671L; 11:68406735-68406735	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1689G>A; p.W563*; 11:68403587-68403587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1744A>G; p.I582V; 11:68403642-68403642	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4127C>T; p.P1376L; 11:68438461-68438461	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2066T>G; p.I689S; 11:68406788-68406788	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3767C>T; p.P1256L; 11:68433605-68433605	oesophagus	carcinoma	Substitution - Missense
c.2437T>A; p.Y813N; 11:68411554-68411554	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3710G>A; p.R1237Q; 11:68429647-68429647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.800C>T; p.T267I; 11:68363860-68363860	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1020C>T; p.A340A; 11:68386320-68386320	skin	malignant_melanoma	Substitution - coding silent
c.781C>T; p.H261Y; 11:68363841-68363841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2286C>T; p.N762N; 11:68410108-68410108	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1142A>G; p.D381G; 11:68386442-68386442	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.195G>A; p.A65A; 11:68347950-68347950	breast	carcinoma	Substitution - coding silent
c.616G>T; p.E206*; 11:68357777-68357777	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3281A>G; p.E1094G; 11:68425146-68425146	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.922C>A; p.H308N; 11:68365609-68365609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1705G>A; p.E569K; 11:68403603-68403603	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1636C>T; p.P546S; 11:68403534-68403534	skin	malignant_melanoma	Substitution - Missense
c.294C>T; p.A98A; 11:68348049-68348049	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2318+1G>A; p.?; 11:68410141-68410141	breast	carcinoma; ER-PR-positive_carcinoma	Unknown
c.2827+3A>G; p.?; 11:68414015-68414015	liver	carcinoma	Unknown
c.3448G>A; p.E1150K; 11:68425998-68425998	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2517C>T; p.V839V; 11:68413702-68413702	skin	malignant_melanoma	Substitution - coding silent
c.2583A>G; p.T861T; 11:68413768-68413768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.820A>G; p.I274V; 11:68363880-68363880	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.820A>G; p.I274V; 11:68363880-68363880	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1652T>G; p.F551C; 11:68403550-68403550	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1379A>C; p.E460A; 11:68386679-68386679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2530G>T; p.D844Y; 11:68413715-68413715	liver	carcinoma	Substitution - Missense
c.4726C>T; p.P1576S; 11:68448948-68448948	skin	malignant_melanoma	Substitution - Missense
c.2530G>T; p.D844Y; 11:68413715-68413715	liver	carcinoma	Substitution - Missense
c.480C>T; p.P160P; 11:68348235-68348235	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1971G>T; p.R657S; 11:68406693-68406693	kidney	other; neoplasm	Substitution - Missense
c.2530G>T; p.D844Y; 11:68413715-68413715	liver	carcinoma	Substitution - Missense
c.2530G>T; p.D844Y; 11:68413715-68413715	liver	carcinoma	Substitution - Missense
c.4293G>A; p.P1431P; 11:68438627-68438627	ovary	other; neoplasm	Substitution - coding silent
c.3656G>A; p.R1219H; 11:68429593-68429593	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1502C>T; p.S501F; 11:68389970-68389970	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1080G>A; p.P360P; 11:68386380-68386380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1502C>T; p.S501F; 11:68389970-68389970	skin; abdomen	malignant_melanoma	Substitution - Missense
c.3404G>A; p.R1135H; 11:68425269-68425269	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2773C>T; p.R925C; 11:68413958-68413958	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4293G>A; p.P1431P; 11:68438627-68438627	ovary	other; neoplasm	Substitution - coding silent
c.1419G>T; p.M473I; 11:68389887-68389887	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2012T>G; p.L671R; 11:68406734-68406734	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4205G>T; p.G1402V; 11:68438539-68438539	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3586G>A; p.A1196T; 11:68426136-68426136	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1312G>T; p.D438Y; 11:68386612-68386612	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.4428C>T; p.N1476N; 11:68439856-68439856	skin	malignant_melanoma	Substitution - coding silent
c.413A>G; p.N138S; 11:68348168-68348168	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1801+1G>A; p.?; 11:68403700-68403700	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.765G>A; p.W255*; 11:68363825-68363825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3126C>T; p.C1042C; 11:68423587-68423587	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4781C>T; p.P1594L; 11:68449003-68449003	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2774G>C; p.R925P; 11:68413959-68413959	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4380C>A; p.S1460S; 11:68439808-68439808	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3211G>A; p.A1071T; 11:68423672-68423672	skin	malignant_melanoma	Substitution - Missense
c.3280G>A; p.E1094K; 11:68425145-68425145	skin	malignant_melanoma	Substitution - Missense
c.4424G>A; p.R1475Q; 11:68439852-68439852	skin	malignant_melanoma	Substitution - Missense
c.2205C>T; p.A735A; 11:68410027-68410027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4488+1G>C; p.?; 11:68439917-68439917	lung	carcinoma; adenocarcinoma	Unknown
c.570G>A; p.V190V; 11:68357731-68357731	skin	malignant_melanoma	Substitution - coding silent
c.3082G>A; p.D1028N; 11:68423543-68423543	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3184C>T; p.L1062L; 11:68423645-68423645	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.4337G>A; p.G1446D; 11:68438671-68438671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1077G>A; p.T359T; 11:68386377-68386377	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.391C>T; p.R131C; 11:68348146-68348146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1924G>T; p.V642L; 11:68406646-68406646	breast	carcinoma	Substitution - Missense
c.1932G>A; p.E644E; 11:68406654-68406654	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2102G>A; p.R701H; 11:68409924-68409924	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3074A>T; p.Q1025L; 11:68423535-68423535	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.963C>T; p.C321C; 11:68365650-68365650	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.194C>T; p.A65V; 11:68347949-68347949	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.680C>T; p.S227L; 11:68357841-68357841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.194C>T; p.A65V; 11:68347949-68347949	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.194C>T; p.A65V; 11:68347949-68347949	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.194C>T; p.A65V; 11:68347949-68347949	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4498C>T; p.P1500S; 11:68446445-68446445	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4596C>T; p.I1532I; 11:68448818-68448818	skin	malignant_melanoma	Substitution - coding silent
c.1507G>T; p.G503W; 11:68389975-68389975	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2797A>C; p.T933P; 11:68413982-68413982	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4667G>A; p.R1556H; 11:68448889-68448889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3333C>T; p.L1111L; 11:68425198-68425198	skin	malignant_melanoma	Substitution - coding silent
c.884T>C; p.F295S; 11:68365571-68365571	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.532C>A; p.R178R; 11:68357693-68357693	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.587G>T; p.W196L; 11:68357748-68357748	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1254C>T; p.P418P; 11:68386554-68386554	skin	malignant_melanoma	Substitution - coding silent
c.3825C>T; p.P1275P; 11:68433663-68433663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1204C>A; p.L402M; 11:68386504-68386504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1268T>C; p.V423A; 11:68386568-68386568	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>A; p.G119D; 11:68348111-68348111	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3414C>T; p.S1138S; 11:68425279-68425279	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4328C>G; p.S1443C; 11:68438662-68438662	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2449C>T; p.R817C; 11:68411566-68411566	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.329C>T; p.P110L; 11:68348084-68348084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2255G>A; p.R752Q; 11:68410077-68410077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2665G>T; p.V889L; 11:68413850-68413850	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2506C>T; p.Q836*; 11:68413691-68413691	thyroid	carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]