Entrez Gene

Basic Information
Gene ID	4644
Name	MYO5A
Synonymous	myosin VA (heavy chain 12, myoxin);MYO5A;myosin VA (heavy chain 12, myoxin)
Definition	dilute myosin heavy chain, non-muscle\|myosin V\|myosin, heavy polypeptide kinase\|myosin-12\|myosin-Va\|myoxin\|unconventional myosin-Va
Position	15q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.4559C>T; p.A1520V; 15:52327928-52327928	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5448G>C; p.Q1816H; 15:52313816-52313816	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5448G>C; p.Q1816H; 15:52313816-52313816	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3586A>G; p.I1196V; 15:52353640-52353640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2933C>T; p.A978V; 15:52370302-52370302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3573A>C; p.E1191D; 15:52353653-52353653	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1241G>C; p.W414S; 15:52397279-52397279	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2817G>A; p.Q939Q; 15:52372124-52372124	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2096C>G; p.S699*; 15:52379825-52379825	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4123A>G; p.K1375E; 15:52340312-52340312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1942G>A; p.E648K; 15:52383161-52383161	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1496T>C; p.I499T; 15:52391976-52391976	pancreas	carcinoma	Substitution - Missense
c.2098C>T; p.R700W; 15:52379823-52379823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1826G>A; p.R609H; 15:52384249-52384249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.171G>A; p.K57K; 15:52428537-52428537	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2098C>T; p.R700W; 15:52379823-52379823	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1961C>T; p.T654I; 15:52383142-52383142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1738C>A; p.L580I; 15:52387843-52387843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2315G>A; p.R772Q; 15:52376452-52376452	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4368C>A; p.I1456I; 15:52330465-52330465	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2620C>T; p.R874W; 15:52372321-52372321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.366T>C; p.D122D; 15:52425919-52425919	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.188G>A; p.R63Q; 15:52428520-52428520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.331A>C; p.N111H; 15:52425954-52425954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4512G>A; p.L1504L; 15:52327975-52327975	liver	carcinoma	Substitution - coding silent
c.3893A>T; p.D1298V; 15:52346427-52346427	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2333G>A; p.R778Q; 15:52376434-52376434	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.750A>G; p.V250V; 15:52410339-52410339	liver	carcinoma	Substitution - coding silent
c.4750C>T; p.R1584C; 15:52321485-52321485	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4081G>A; p.E1361K; 15:52340354-52340354	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2227T>C; p.F743L; 15:52376540-52376540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5308A>T; p.M1770L; 15:52317074-52317074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2730C>T; p.I910I; 15:52372211-52372211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4453C>T; p.Q1485*; 15:52330380-52330380	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3817C>A; p.L1273M; 15:52351286-52351286	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1386G>A; p.Q462Q; 15:52396331-52396331	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3817C>A; p.L1273M; 15:52351286-52351286	stomach	adenocarcinoma	Substitution - Missense
c.3091A>C; p.N1031H; 15:52367100-52367100	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1199G>A; p.R400H; 15:52397321-52397321	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3825C>A; p.S1275R; 15:52351278-52351278	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5171G>C; p.S1724T; 15:52317211-52317211	ovary	other; neoplasm	Substitution - Missense
c.2815C>A; p.Q939K; 15:52372126-52372126	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5021T>A; p.V1674D; 15:52319198-52319198	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4097C>T; p.A1366V; 15:52340338-52340338	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2864G>T; p.G955V; 15:52370371-52370371	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2621G>A; p.R874Q; 15:52372320-52372320	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2621G>A; p.R874Q; 15:52372320-52372320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4097C>T; p.A1366V; 15:52340338-52340338	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4727G>A; p.G1576D; 15:52321508-52321508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5390C>T; p.S1797F; 15:52314148-52314148	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3579A>T; p.R1193S; 15:52353647-52353647	ovary	other; neoplasm	Substitution - Missense
c.5124G>A; p.K1708K; 15:52319095-52319095	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4559C>A; p.A1520D; 15:52327928-52327928	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2978C>T; p.A993V; 15:52370257-52370257	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2978C>T; p.A993V; 15:52370257-52370257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1270C>A; p.H424N; 15:52397250-52397250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2636G>A; p.R879H; 15:52372305-52372305	pancreas	carcinoma	Substitution - Missense
c.3474C>T; p.L1158L; 15:52353964-52353964	breast	carcinoma	Substitution - coding silent
c.1599C>T; p.N533N; 15:52389307-52389307	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.670A>G; p.I224V; 15:52410419-52410419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4870A>G; p.M1624V; 15:52321365-52321365	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1086A>C; p.E362D; 15:52397434-52397434	thyroid	other; neoplasm	Substitution - Missense
c.5160-6delT; p.?; 15:52317228-52317228	stomach	adenocarcinoma	Unknown
c.523T>G; p.Y175D; 15:52416234-52416234	pancreas	carcinoma	Substitution - Missense
c.3438G>A; p.K1146K; 15:52354000-52354000	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2818-2A>G; p.?; 15:52370419-52370419	stomach	carcinoma; adenocarcinoma	Unknown
c.4585G>C; p.V1529L; 15:52327902-52327902	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2546G>A; p.R849Q; 15:52375335-52375335	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3598G>A; p.E1200K; 15:52353628-52353628	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5504C>T; p.S1835F; 15:52313760-52313760	skin	malignant_melanoma	Substitution - Missense
c.3859-2A>G; p.?; 15:52346463-52346463	oesophagus	carcinoma; adenocarcinoma	Unknown
c.5196C>G; p.D1732E; 15:52317186-52317186	ovary	other; neoplasm	Substitution - Missense
c.2773A>C; p.M925L; 15:52372168-52372168	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4802T>G; p.V1601G; 15:52321433-52321433	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1975C>T; p.R659C; 15:52383128-52383128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2708G>A; p.R903H; 15:52372233-52372233	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2438G>A; p.R813H; 15:52375443-52375443	breast	carcinoma	Substitution - Missense
c.3618C>G; p.L1206L; 15:52353608-52353608	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4590G>A; p.R1530R; 15:52327897-52327897	breast	carcinoma	Substitution - coding silent
c.1804A>C; p.T602P; 15:52384271-52384271	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4780G>C; p.D1594H; 15:52321455-52321455	pancreas	carcinoma	Substitution - Missense
c.4423G>T; p.G1475W; 15:52330410-52330410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4493G>A; p.R1498H; 15:52327994-52327994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3043C>T; p.R1015*; 15:52370192-52370192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5019G>A; p.S1673S; 15:52319200-52319200	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2082G>A; p.A694A; 15:52379839-52379839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.378A>T; p.A126A; 15:52425907-52425907	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3135C>T; p.I1045I; 15:52367056-52367056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2041C>T; p.L681L; 15:52379880-52379880	skin	malignant_melanoma	Substitution - coding silent
c.1335G>T; p.E445D; 15:52396382-52396382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1499A>T; p.E500V; 15:52391973-52391973	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3135C>T; p.I1045I; 15:52367056-52367056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4938G>C; p.L1646F; 15:52319281-52319281	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.152A>C; p.H51P; 15:52428556-52428556	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.682T>C; p.F228L; 15:52410407-52410407	pancreas	carcinoma	Substitution - Missense
c.979C>T; p.R327*; 15:52405361-52405361	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1346T>G; p.F449C; 15:52396371-52396371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.527C>T; p.A176V; 15:52416230-52416230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.833G>C; p.R278P; 15:52408064-52408064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1683T>G; p.C561W; 15:52387898-52387898	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2429A>C; p.K810T; 15:52375452-52375452	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1262A>G; p.Q421R; 15:52397258-52397258	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2429A>C; p.K810T; 15:52375452-52375452	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.975T>G; p.I325M; 15:52405365-52405365	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.456-4A>G; p.?; 15:52416305-52416305	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4811A>T; p.D1604V; 15:52321424-52321424	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5306C>A; p.S1769Y; 15:52317076-52317076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4469A>G; p.N1490S; 15:52330364-52330364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1246G>T; p.V416L; 15:52397274-52397274	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1562A>T; p.D521V; 15:52389344-52389344	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5115C>T; p.L1705L; 15:52319104-52319104	skin	malignant_melanoma	Substitution - coding silent
c.3987G>T; p.L1329F; 15:52343170-52343170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2995C>T; p.L999L; 15:52370240-52370240	breast	carcinoma	Substitution - coding silent
c.1201G>A; p.D401N; 15:52397319-52397319	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2970A>C; p.E990D; 15:52370265-52370265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2950C>T; p.R984W; 15:52370285-52370285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3697A>G; p.S1233G; 15:52351406-52351406	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2950C>T; p.R984W; 15:52370285-52370285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2950C>T; p.R984W; 15:52370285-52370285	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2368C>T; p.R790W; 15:52376399-52376399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1180C>A; p.L394M; 15:52397340-52397340	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2368C>T; p.R790W; 15:52376399-52376399	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5191C>T; p.R1731C; 15:52317191-52317191	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2491C>T; p.R831C; 15:52375390-52375390	NS	NS	Substitution - Missense
c.2491C>T; p.R831C; 15:52375390-52375390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3587T>G; p.I1196S; 15:52353639-52353639	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3812C>T; p.S1271F; 15:52351291-52351291	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4807A>T; p.S1603C; 15:52321428-52321428	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2909G>A; p.R970H; 15:52370326-52370326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2401C>T; p.R801W; 15:52376366-52376366	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5418G>A; p.M1806I; 15:52313846-52313846	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3088G>A; p.E1030K; 15:52367103-52367103	breast	carcinoma	Substitution - Missense
c.2250C>T; p.F750F; 15:52376517-52376517	skin	malignant_melanoma	Substitution - coding silent
c.2401C>T; p.R801W; 15:52376366-52376366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2780A>G; p.N927S; 15:52372161-52372161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2316G>A; p.R772R; 15:52376451-52376451	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1609C>A; p.L537I; 15:52389297-52389297	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.500C>T; p.A167V; 15:52416257-52416257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.500C>T; p.A167V; 15:52416257-52416257	large_intestine; colon	carcinoma	Substitution - Missense
c.1558G>C; p.D520H; 15:52389348-52389348	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2263G>A; p.V755M; 15:52376504-52376504	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3284T>C; p.L1095P; 15:52364579-52364579	skin	malignant_melanoma	Substitution - Missense
c.569C>G; p.A190G; 15:52416188-52416188	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1198C>T; p.R400C; 15:52397322-52397322	large_intestine; colon	carcinoma	Substitution - Missense
c.1198C>T; p.R400C; 15:52397322-52397322	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.719G>T; p.R240I; 15:52410370-52410370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5389T>C; p.S1797P; 15:52314149-52314149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2397C>T; p.Y799Y; 15:52376370-52376370	pancreas	carcinoma	Substitution - coding silent
c.2099G>T; p.R700L; 15:52379822-52379822	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3850-2A>G; p.?; 15:52348828-52348828	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5515G>T; p.E1839*; 15:52313749-52313749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.223A>G; p.T75A; 15:52428485-52428485	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3532C>T; p.R1178C; 15:52353906-52353906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746T>C; p.V249A; 15:52410343-52410343	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1350A>G; p.E450E; 15:52396367-52396367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3409C>T; p.P1137S; 15:52359982-52359982	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2809G>C; p.D937H; 15:52372132-52372132	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1727A>G; p.Q576R; 15:52387854-52387854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2291A>G; p.D764G; 15:52376476-52376476	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3897A>G; p.V1299V; 15:52346423-52346423	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4227C>T; p.T1409T; 15:52340208-52340208	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4744A>G; p.T1582A; 15:52321491-52321491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826A>G; p.M276V; 15:52408071-52408071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.826A>G; p.M276V; 15:52408071-52408071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3541G>T; p.E1181*; 15:52353897-52353897	breast	carcinoma	Substitution - Nonsense
c.3073T>G; p.S1025A; 15:52367118-52367118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2438G>T; p.R813L; 15:52375443-52375443	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1182G>A; p.L394L; 15:52397338-52397338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4970G>T; p.G1657V; 15:52319249-52319249	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1240T>C; p.W414R; 15:52397280-52397280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3458C>G; p.S1153*; 15:52353980-52353980	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3481C>T; p.R1161W; 15:52353957-52353957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4013T>G; p.V1338G; 15:52343144-52343144	thyroid	other; neoplasm	Substitution - Missense
c.4384C>T; p.R1462*; 15:52330449-52330449	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.183C>G; p.H61Q; 15:52428525-52428525	oesophagus	carcinoma	Substitution - Missense
c.302C>T; p.T101M; 15:52428406-52428406	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4384C>T; p.R1462*; 15:52330449-52330449	central_nervous_system; brain	glioma	Substitution - Nonsense
c.4242T>C; p.D1414D; 15:52336554-52336554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2022G>A; p.E674E; 15:52379899-52379899	skin	malignant_melanoma	Substitution - coding silent
c.3410C>T; p.P1137L; 15:52359981-52359981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1574A>C; p.Q525P; 15:52389332-52389332	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3616C>T; p.L1206F; 15:52353610-52353610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3410C>T; p.P1137L; 15:52359981-52359981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3444A>C; p.V1148V; 15:52353994-52353994	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4901C>T; p.T1634M; 15:52319318-52319318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3361G>A; p.E1121K; 15:52360030-52360030	breast	carcinoma	Substitution - Missense
c.3081G>T; p.L1027L; 15:52367110-52367110	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2893C>T; p.R965*; 15:52370342-52370342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2219A>G; p.K740R; 15:52376548-52376548	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2501A>T; p.Y834F; 15:52375380-52375380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3736C>T; p.R1246C; 15:52351367-52351367	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.5364A>G; p.P1788P; 15:52314174-52314174	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.5364A>G; p.P1788P; 15:52314174-52314174	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3310-1G>T; p.?; 15:52360082-52360082	liver	carcinoma	Unknown
c.2274A>T; p.L758L; 15:52376493-52376493	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3606A>G; p.E1202E; 15:52353620-52353620	liver	carcinoma	Substitution - coding silent
c.3606A>G; p.E1202E; 15:52353620-52353620	liver	carcinoma	Substitution - coding silent
c.2857C>A; p.L953M; 15:52370378-52370378	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.753C>T; p.F251F; 15:52410336-52410336	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.707G>C; p.G236A; 15:52410382-52410382	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.292C>G; p.L98V; 15:52428416-52428416	central_nervous_system; brain	glioma	Substitution - Missense
c.1190C>T; p.T397I; 15:52397330-52397330	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4520G>A; p.G1507E; 15:52327967-52327967	skin; trunk	malignant_melanoma	Substitution - Missense
c.879T>C; p.S293S; 15:52407359-52407359	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2128T>A; p.Y710N; 15:52379705-52379705	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4687C>G; p.R1563G; 15:52323393-52323393	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3768C>T; p.S1256S; 15:52351335-52351335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3768C>T; p.S1256S; 15:52351335-52351335	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1730T>G; p.I577S; 15:52387851-52387851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2986C>T; p.R996W; 15:52370249-52370249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.274C>T; p.R92C; 15:52428434-52428434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4720G>T; p.E1574*; 15:52323360-52323360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5484C>T; p.T1828T; 15:52313780-52313780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3638C>A; p.S1213*; 15:52351465-52351465	breast	carcinoma	Substitution - Nonsense
c.2750G>A; p.R917H; 15:52372191-52372191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3863C>G; p.T1288R; 15:52346457-52346457	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.218A>T; p.D73V; 15:52428490-52428490	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2477G>C; p.R826P; 15:52375404-52375404	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.35G>A; p.R12K; 15:52433278-52433278	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.218A>T; p.D73V; 15:52428490-52428490	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2688C>T; p.F896F; 15:52372253-52372253	skin	malignant_melanoma	Substitution - coding silent
c.2434C>T; p.L812L; 15:52375447-52375447	breast	carcinoma	Substitution - coding silent
c.5476C>T; p.P1826S; 15:52313788-52313788	thyroid	carcinoma	Substitution - Missense
c.2633C>T; p.A878V; 15:52372308-52372308	skin	malignant_melanoma	Substitution - Missense
c.1651C>T; p.Q551*; 15:52389255-52389255	skin	malignant_melanoma	Substitution - Nonsense
c.255G>C; p.V85V; 15:52428453-52428453	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1598A>G; p.N533S; 15:52389308-52389308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3785G>A; p.R1262H; 15:52351318-52351318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.343C>T; p.Q115*; 15:52425942-52425942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1225G>A; p.A409T; 15:52397295-52397295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4092C>T; p.A1364A; 15:52340343-52340343	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.692G>T; p.R231I; 15:52410397-52410397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3252G>A; p.E1084E; 15:52364611-52364611	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4552C>T; p.R1518*; 15:52327935-52327935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.783C>T; p.I261I; 15:52408114-52408114	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4552C>T; p.R1518*; 15:52327935-52327935	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3812C>A; p.S1271Y; 15:52351291-52351291	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2258G>C; p.G753A; 15:52376509-52376509	ovary	other; neoplasm	Substitution - Missense
c.2622G>T; p.R874R; 15:52372319-52372319	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5371G>A; p.E1791K; 15:52314167-52314167	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2244C>A; p.I748I; 15:52376523-52376523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2369G>A; p.R790Q; 15:52376398-52376398	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5553C>T; p.F1851F; 15:52313711-52313711	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5371G>A; p.E1791K; 15:52314167-52314167	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4878C>T; p.V1626V; 15:52319341-52319341	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.405G>T; p.M135I; 15:52425880-52425880	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.565G>T; p.E189*; 15:52416192-52416192	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2489T>C; p.V830A; 15:52375392-52375392	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1693C>A; p.L565I; 15:52387888-52387888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4385G>A; p.R1462Q; 15:52330448-52330448	central_nervous_system; brain	glioma	Substitution - Missense
c.2077A>G; p.S693G; 15:52379844-52379844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482T>C; p.V161A; 15:52416275-52416275	skin	malignant_melanoma	Substitution - Missense
c.1037A>G; p.D346G; 15:52405303-52405303	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1108G>A; p.E370K; 15:52397412-52397412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.697C>T; p.R233*; 15:52410392-52410392	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1687G>T; p.G563*; 15:52387894-52387894	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3982G>T; p.E1328*; 15:52343175-52343175	breast	carcinoma	Substitution - Nonsense
c.2929G>A; p.E977K; 15:52370306-52370306	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2194G>A; p.E732K; 15:52379639-52379639	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1668+1G>A; p.?; 15:52389237-52389237	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.4611T>A; p.I1537I; 15:52327876-52327876	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.480C>T; p.I160I; 15:52416277-52416277	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.3008G>A; p.R1003H; 15:52370227-52370227	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2218A>G; p.K740E; 15:52376549-52376549	pancreas	carcinoma	Substitution - Missense
c.5229C>A; p.T1743T; 15:52317153-52317153	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4441A>T; p.K1481*; 15:52330392-52330392	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1682G>T; p.C561F; 15:52387899-52387899	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3160G>T; p.E1054*; 15:52367031-52367031	pancreas	carcinoma	Substitution - Nonsense
c.4945C>T; p.R1649*; 15:52319274-52319274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3040G>C; p.D1014H; 15:52370195-52370195	breast	carcinoma	Substitution - Missense
c.833G>A; p.R278Q; 15:52408064-52408064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3836C>T; p.A1279V; 15:52351267-52351267	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>A; p.R278Q; 15:52408064-52408064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.187C>T; p.R63*; 15:52428521-52428521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4707A>G; p.K1569K; 15:52323373-52323373	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4912G>A; p.V1638M; 15:52319307-52319307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1551A>G; p.K517K; 15:52389355-52389355	skin	malignant_melanoma	Substitution - coding silent
c.3410C>A; p.P1137Q; 15:52359981-52359981	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3578G>C; p.R1193T; 15:52353648-52353648	breast	carcinoma	Substitution - Missense
c.4775A>G; p.N1592S; 15:52321460-52321460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5391T>C; p.S1797S; 15:52314147-52314147	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.326C>G; p.A109G; 15:52425959-52425959	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3131G>A; p.R1044H; 15:52367060-52367060	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.28-2A>T; p.?; 15:52433287-52433287	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2063A>G; p.E688G; 15:52379858-52379858	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.412C>T; p.H138Y; 15:52425873-52425873	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1983C>T; p.I661I; 15:52383120-52383120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1233C>A; p.L411L; 15:52397287-52397287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4922T>C; p.V1641A; 15:52319297-52319297	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4634A>G; p.K1545R; 15:52327853-52327853	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.838+5G>T; p.?; 15:52408054-52408054	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.368T>C; p.I123T; 15:52425917-52425917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4592C>T; p.S1531L; 15:52327895-52327895	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4803G>A; p.V1601V; 15:52321432-52321432	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1660G>T; p.A554S; 15:52389246-52389246	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1359C>T; p.C453C; 15:52396358-52396358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.64T>C; p.W22R; 15:52433249-52433249	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2362C>T; p.R788C; 15:52376405-52376405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4795C>A; p.R1599R; 15:52321440-52321440	pancreas	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]