Entrez Gene

Basic Information
Gene ID	5629
Name	PROX1
Synonymous	prospero homeobox 1;PROX1;prospero homeobox 1
Definition	homeobox prospero-like protein PROX1\|prospero homeobox protein 1\|prospero-related homeobox 1
Position	1q41
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1792C>T; p.P598S; 1:214005231-214005231	skin; extremity	malignant_melanoma	Substitution - Missense
c.1792C>T; p.P598S; 1:214005231-214005231	skin	malignant_melanoma	Substitution - Missense
c.939C>A; p.A313A; 1:213997474-213997474	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.408delC; p.P138fs*12; 1:213996943-213996943	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1932C>T; p.N644N; 1:214011619-214011619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.846G>T; p.E282D; 1:213997381-213997381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1029G>A; p.P343P; 1:213997564-213997564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1620A>T; p.P540P; 1:213998155-213998155	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.939C>T; p.A313A; 1:213997474-213997474	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1839C>A; p.N613K; 1:214011526-214011526	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.811G>T; p.D271Y; 1:213997346-213997346	breast	carcinoma	Substitution - Missense
c.574G>A; p.E192K; 1:213997109-213997109	skin	malignant_melanoma	Substitution - Missense
c.752G>T; p.R251L; 1:213997287-213997287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1289C>T; p.A430V; 1:213997824-213997824	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1558G>A; p.D520N; 1:213998093-213998093	skin	malignant_melanoma	Substitution - Missense
c.929G>A; p.R310Q; 1:213997464-213997464	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1325T>G; p.V442G; 1:213997860-213997860	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.929G>A; p.R310Q; 1:213997464-213997464	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1115C>T; p.S372L; 1:213997650-213997650	pancreas	carcinoma	Substitution - Missense
c.1212C>T; p.T404T; 1:213997747-213997747	oesophagus	carcinoma	Substitution - coding silent
c.25C>A; p.L9I; 1:213996560-213996560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.17G>A; p.S6N; 1:213996552-213996552	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	skin	malignant_melanoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1431G>A; p.T477T; 1:213997966-213997966	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.520C>T; p.R174W; 1:213997055-213997055	skin	malignant_melanoma	Substitution - Missense
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.P389P; 1:213997702-213997702	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine; colon	carcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	skin	malignant_melanoma	Substitution - Missense
c.121delT; p.F42fs*4; 1:213996656-213996656	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.466C>T; p.R156C; 1:213997001-213997001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379G>A; p.D127N; 1:213996914-213996914	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1158C>G; p.L386L; 1:213997693-213997693	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1638C>A; p.T546T; 1:213998173-213998173	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158C>G; p.L386L; 1:213997693-213997693	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1868G>T; p.W623L; 1:214011555-214011555	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.703G>T; p.E235*; 1:213997238-213997238	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.764A>G; p.E255G; 1:213997299-213997299	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.504G>C; p.R168R; 1:213997039-213997039	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.301A>G; p.M101V; 1:213996836-213996836	liver	carcinoma	Substitution - Missense
c.301A>G; p.M101V; 1:213996836-213996836	liver	carcinoma	Substitution - Missense
c.860G>C; p.R287T; 1:213997395-213997395	breast	carcinoma	Substitution - Missense
c.2018A>C; p.N673T; 1:214011705-214011705	liver	carcinoma	Substitution - Missense
c.2018A>C; p.N673T; 1:214011705-214011705	liver	carcinoma	Substitution - Missense
c.855T>A; p.D285E; 1:213997390-213997390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.S197F; 1:213997125-213997125	skin; mucosal	malignant_melanoma	Substitution - Missense
c.994_997delAAAG; p.R334fs*18; 1:213997529-213997532	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.236C>T; p.S79L; 1:213996771-213996771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.325C>G; p.P109A; 1:213996860-213996860	skin	malignant_melanoma	Substitution - Missense
c.1824C>T; p.S608S; 1:214005263-214005263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1824C>T; p.S608S; 1:214005263-214005263	prostate	carcinoma	Substitution - coding silent
c.1666A>C; p.K556Q; 1:213998201-213998201	breast	carcinoma	Substitution - Missense
c.664C>T; p.Q222*; 1:213997199-213997199	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1223G>A; p.R408H; 1:213997758-213997758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>A; p.R201Q; 1:213997137-213997137	breast	carcinoma	Substitution - Missense
c.581C>T; p.A194V; 1:213997116-213997116	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2149C>T; p.L717L; 1:214035769-214035769	skin	malignant_melanoma	Substitution - coding silent
c.975G>A; p.P325P; 1:213997510-213997510	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1031delA; p.G345fs*8; 1:213997566-213997566	liver	carcinoma	Deletion - Frameshift
c.554G>A; p.R185K; 1:213997089-213997089	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1166C>T; p.P389L; 1:213997701-213997701	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240G>T; p.D414Y; 1:213997775-213997775	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>T; p.S181I; 1:213997077-213997077	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1750C>A; p.H584N; 1:214005189-214005189	skin	malignant_melanoma	Substitution - Missense
c.1190G>T; p.G397V; 1:213997725-213997725	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>T; p.G397V; 1:213997725-213997725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2132A>G; p.Y711C; 1:214035752-214035752	ovary	other; neoplasm	Substitution - Missense
c.1422C>A; p.G474G; 1:213997957-213997957	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506C>T; p.G502G; 1:213998041-213998041	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.526A>G; p.M176V; 1:213997061-213997061	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.526A>G; p.M176V; 1:213997061-213997061	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1565C>T; p.T522M; 1:213998100-213998100	breast	carcinoma	Substitution - Missense
c.1565C>T; p.T522M; 1:213998100-213998100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1777T>G; p.F593V; 1:214005216-214005216	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1828G>A; p.V610I; 1:214005267-214005267	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1149C>T; p.F383F; 1:213997684-213997684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1575G>A; p.R525R; 1:213998110-213998110	skin	malignant_melanoma	Substitution - coding silent
c.1706C>T; p.S569L; 1:213998241-213998241	skin; shoulder	malignant_melanoma	Substitution - Missense
c.823T>A; p.S275T; 1:213997358-213997358	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1350G>T; p.Q450H; 1:213997885-213997885	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.25C>T; p.L9F; 1:213996560-213996560	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1225C>A; p.L409M; 1:213997760-213997760	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1755_1756insA; p.A588fs*38; 1:214005194-214005195	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.364G>T; p.E122*; 1:213996899-213996899	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1691A>T; p.D564V; 1:213998226-213998226	oesophagus	carcinoma	Substitution - Missense
c.1239C>T; p.G413G; 1:213997774-213997774	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.720A>T; p.K240N; 1:213997255-213997255	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1239C>T; p.G413G; 1:213997774-213997774	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1239C>T; p.G413G; 1:213997774-213997774	liver	carcinoma	Substitution - coding silent
c.2114C>T; p.S705F; 1:214035734-214035734	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1967C>T; p.T656I; 1:214011654-214011654	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1619C>T; p.P540L; 1:213998154-213998154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1933G>A; p.D645N; 1:214011620-214011620	breast	carcinoma	Substitution - Missense
c.187G>C; p.D63H; 1:213996722-213996722	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1019C>A; p.S340Y; 1:213997554-213997554	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1254G>A; p.P418P; 1:213997789-213997789	pancreas	carcinoma	Substitution - coding silent
c.144A>G; p.Q48Q; 1:213996679-213996679	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.317G>A; p.G106D; 1:213996852-213996852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.V415I; 1:213997778-213997778	breast	carcinoma	Substitution - Missense
c.149C>A; p.S50Y; 1:213996684-213996684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.892G>C; p.E298Q; 1:213997427-213997427	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.48G>A; p.R16R; 1:213996583-213996583	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.752G>A; p.R251H; 1:213997287-213997287	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1886A>G; p.E629G; 1:214011573-214011573	liver	carcinoma	Substitution - Missense
c.1645G>T; p.G549W; 1:213998180-213998180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1886A>G; p.E629G; 1:214011573-214011573	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.497G>A; p.R166H; 1:213997032-213997032	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1886A>G; p.E629G; 1:214011573-214011573	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1690G>T; p.D564Y; 1:213998225-213998225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1474C>T; p.P492S; 1:213998009-213998009	skin	malignant_melanoma	Substitution - Missense
c.475G>C; p.D159H; 1:213997010-213997010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2180C>T; p.S727F; 1:214035800-214035800	skin	malignant_melanoma	Substitution - Missense
c.362C>T; p.S121F; 1:213996897-213996897	skin	malignant_melanoma	Substitution - Missense
c.467G>A; p.R156H; 1:213997002-213997002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.467G>A; p.R156H; 1:213997002-213997002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>A; p.R156H; 1:213997002-213997002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1296C>T; p.S432S; 1:213997831-213997831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1677C>T; p.C559C; 1:213998212-213998212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.707G>T; p.R236L; 1:213997242-213997242	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1677C>T; p.C559C; 1:213998212-213998212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.707G>T; p.R236L; 1:213997242-213997242	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.307A>T; p.K103*; 1:213996842-213996842	skin	malignant_melanoma	Substitution - Nonsense
c.514A>T; p.I172L; 1:213997049-213997049	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2063C>G; p.T688R; 1:214035683-214035683	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1976G>T; p.C659F; 1:214011663-214011663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.398C>T; p.S133L; 1:213996933-213996933	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1439T>C; p.F480S; 1:213997974-213997974	thyroid	other; neoplasm	Substitution - Missense
c.445A>G; p.M149V; 1:213996980-213996980	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2126delC; p.I710fs*>28; 1:214035746-214035746	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.477T>A; p.D159E; 1:213997012-213997012	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>T; p.T546T; 1:213998173-213998173	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116G>T; p.S372S; 1:213997651-213997651	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1123C>T; p.P375S; 1:213997658-213997658	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1116G>T; p.S372S; 1:213997651-213997651	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1874G>T; p.S625I; 1:214011561-214011561	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.486G>A; p.L162L; 1:213997021-213997021	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.255G>A; p.M85I; 1:213996790-213996790	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.730G>C; p.E244Q; 1:213997265-213997265	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1755G>A; p.L585L; 1:214005194-214005194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1222C>T; p.R408C; 1:213997757-213997757	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1222C>T; p.R408C; 1:213997757-213997757	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 1:213997218-213997218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 1:213997218-213997218	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 1:213997218-213997218	skin	malignant_melanoma	Substitution - Missense
c.1260C>T; p.P420P; 1:213997795-213997795	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1260C>T; p.P420P; 1:213997795-213997795	skin	malignant_melanoma	Substitution - coding silent
c.122T>G; p.F41C; 1:213996657-213996657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1189delG; p.E398fs*91; 1:213997724-213997724	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.350C>A; p.S117Y; 1:213996885-213996885	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1678G>A; p.G560S; 1:213998213-213998213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1189delG; p.E398fs*91; 1:213997724-213997724	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1620A>G; p.P540P; 1:213998155-213998155	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1785C>T; p.T595T; 1:214005224-214005224	skin	malignant_melanoma	Substitution - coding silent
c.839G>A; p.R280H; 1:213997374-213997374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.221T>C; p.L74P; 1:213996756-213996756	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.221T>C; p.L74P; 1:213996756-213996756	stomach	adenocarcinoma	Substitution - Missense
c.1264G>A; p.D422N; 1:213997799-213997799	breast	carcinoma	Substitution - Missense
c.1725+5C>T; p.?; 1:213998265-213998265	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2092G>T; p.A698S; 1:214035712-214035712	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.538C>G; p.P180A; 1:213997073-213997073	liver	carcinoma	Substitution - Missense
c.105T>C; p.A35A; 1:213996640-213996640	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.538C>G; p.P180A; 1:213997073-213997073	liver	carcinoma	Substitution - Missense
c.269C>A; p.A90E; 1:213996804-213996804	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.861G>C; p.R287S; 1:213997396-213997396	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.113G>A; p.R38K; 1:213996648-213996648	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1300G>A; p.D434N; 1:213997835-213997835	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928C>T; p.R310*; 1:213997463-213997463	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1809G>A; p.L603L; 1:214005248-214005248	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.609T>C; p.S203S; 1:213997144-213997144	skin	malignant_melanoma	Substitution - coding silent
c.1827C>T; p.D609D; 1:214005266-214005266	pancreas	carcinoma	Substitution - coding silent
c.1930A>C; p.N644H; 1:214011617-214011617	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1475C>T; p.P492L; 1:213998010-213998010	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1581G>A; p.K527K; 1:213998116-213998116	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1581G>A; p.K527K; 1:213998116-213998116	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2183C>T; p.P728L; 1:214035803-214035803	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2183C>T; p.P728L; 1:214035803-214035803	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1833G>T; p.K611N; 1:214005272-214005272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1833G>T; p.K611N; 1:214005272-214005272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.206T>A; p.V69E; 1:213996741-213996741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.P143S; 1:213996962-213996962	skin; leg	malignant_melanoma; nodular	Substitution - Missense
c.427C>T; p.P143S; 1:213996962-213996962	skin	malignant_melanoma	Substitution - Missense
c.1503C>T; p.S501S; 1:213998038-213998038	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.179A>T; p.Q60L; 1:213996714-213996714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.561T>A; p.N187K; 1:213997096-213997096	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.805G>C; p.D269H; 1:213997340-213997340	breast	carcinoma	Substitution - Missense
c.482A>T; p.H161L; 1:213997017-213997017	oesophagus	carcinoma	Substitution - Missense
c.2181C>G; p.S727S; 1:214035801-214035801	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1240G>A; p.D414N; 1:213997775-213997775	skin	malignant_melanoma	Substitution - Missense
c.1330C>T; p.R444C; 1:213997865-213997865	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.674T>A; p.V225D; 1:213997209-213997209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1715C>T; p.S572L; 1:213998250-213998250	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1715C>T; p.S572L; 1:213998250-213998250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.674T>A; p.V225D; 1:213997209-213997209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1111T>G; p.F371V; 1:213997646-213997646	skin	malignant_melanoma	Substitution - Missense
c.2020G>A; p.D674N; 1:214011707-214011707	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2085C>T; p.A695A; 1:214035705-214035705	skin	malignant_melanoma	Substitution - coding silent
c.1359C>T; p.S453S; 1:213997894-213997894	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.921T>A; p.F307L; 1:213997456-213997456	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.387C>T; p.C129C; 1:213996922-213996922	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1026A>C; p.Q342H; 1:213997561-213997561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.697C>T; p.R233*; 1:213997232-213997232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1428C>T; p.T476T; 1:213997963-213997963	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1110C>A; p.V370V; 1:213997645-213997645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1786C>T; p.R596C; 1:214005225-214005225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1786C>T; p.R596C; 1:214005225-214005225	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.860G>T; p.R287M; 1:213997395-213997395	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.47G>A; p.R16K; 1:213996582-213996582	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>A; p.E230K; 1:213997223-213997223	skin	malignant_melanoma	Substitution - Missense
c.2091C>T; p.I697I; 1:214035711-214035711	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1442G>A; p.R481H; 1:213997977-213997977	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.405C>A; p.D135E; 1:213996940-213996940	stomach	adenocarcinoma	Substitution - Missense
c.2126C>T; p.A709V; 1:214035746-214035746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1565C>G; p.T522R; 1:213998100-213998100	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2028+5G>A; p.?; 1:214011720-214011720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1642G>A; p.E548K; 1:213998177-213998177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1469C>T; p.A490V; 1:213998004-213998004	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1639G>A; p.A547T; 1:213998174-213998174	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1742C>T; p.S581L; 1:214005181-214005181	skin	malignant_melanoma	Substitution - Missense
c.498C>T; p.R166R; 1:213997033-213997033	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1028C>T; p.P343L; 1:213997563-213997563	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.A227A; 1:213997216-213997216	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.709C>T; p.R237*; 1:213997244-213997244	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1030G>C; p.E344Q; 1:213997565-213997565	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1471T>C; p.Y491H; 1:213998006-213998006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>T; p.S266L; 1:213997332-213997332	skin	malignant_melanoma	Substitution - Missense
c.2175C>T; p.F725F; 1:214035795-214035795	skin	malignant_melanoma	Substitution - coding silent

COSMIC somatic mutation [Top]