Entrez Gene

Basic Information
Gene ID	3993
Name	LLGL2
Synonymous	lethal giant larvae homolog 2 (Drosophila);LLGL2;lethal giant larvae homolog 2 (Drosophila)
Definition	human giant larvae homolog\|lethal(2) giant larvae protein homolog 2
Position	17q25.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2864C>G; p.P955R; 17:75573619-75573619	skin	malignant_melanoma	Substitution - Missense
c.2497T>A; p.L833M; 17:75573050-75573050	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.986C>A; p.T329N; 17:75564457-75564457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1700G>A; p.R567H; 17:75570081-75570081	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2376C>T; p.P792P; 17:75571980-75571980	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1219G>A; p.A407T; 17:75568658-75568658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2100C>T; p.I700I; 17:75571024-75571024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.513G>T; p.S171S; 17:75559393-75559393	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.846G>A; p.A282A; 17:75563771-75563771	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.2653G>A; p.V885M; 17:75573206-75573206	skin	malignant_melanoma	Substitution - Missense
c.2610G>A; p.L870L; 17:75573163-75573163	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2762_2763delTC; p.S924fs*23; 17:75573517-75573518	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.881G>A; p.G294E; 17:75563806-75563806	skin	malignant_melanoma	Substitution - Missense
c.371+3A>G; p.?; 17:75558630-75558630	pancreas	carcinoma	Unknown
c.1837C>T; p.L613F; 17:75570218-75570218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.93C>T; p.F31F; 17:75556063-75556063	skin	malignant_melanoma	Substitution - coding silent
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2864_2865insG; p.S956fs*11; 17:75573619-75573620	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1951C>T; p.R651C; 17:75570424-75570424	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.53G>A; p.R18Q; 17:75543479-75543479	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1909G>A; p.E637K; 17:75570382-75570382	skin	malignant_melanoma	Substitution - Missense
c.2574C>T; p.D858D; 17:75573127-75573127	skin	malignant_melanoma	Substitution - coding silent
c.1455C>T; p.D485D; 17:75569110-75569110	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.895A>G; p.I299V; 17:75564366-75564366	oesophagus	carcinoma	Substitution - Missense
c.1279A>C; p.S427R; 17:75568796-75568796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.816C>T; p.L272L; 17:75563453-75563453	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1740C>T; p.F580F; 17:75570121-75570121	skin	malignant_melanoma	Substitution - coding silent
c.660C>T; p.G220G; 17:75563145-75563145	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2968A>G; p.I990V; 17:75574467-75574467	central_nervous_system; brain	glioma	Substitution - Missense
c.817G>A; p.V273M; 17:75563454-75563454	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.660C>T; p.G220G; 17:75563145-75563145	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1133A>G; p.Y378C; 17:75568572-75568572	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.374C>T; p.A125V; 17:75559254-75559254	skin	malignant_melanoma	Substitution - Missense
c.888C>T; p.P296P; 17:75564359-75564359	breast	carcinoma	Substitution - coding silent
c.1070C>T; p.A357V; 17:75568509-75568509	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.612C>T; p.I204I; 17:75563097-75563097	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.612C>T; p.I204I; 17:75563097-75563097	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.114C>T; p.L38L; 17:75556084-75556084	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.77C>T; p.T26M; 17:75556047-75556047	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1333G>A; p.G445S; 17:75568988-75568988	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.76-1G>A; p.?; 17:75556045-75556045	cervix	carcinoma; squamous_cell_carcinoma	Unknown
c.1865T>G; p.V622G; 17:75570246-75570246	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1892_1893GT>AG; p.S631K; 17:75570365-75570366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.D502N; 17:75569248-75569248	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1218C>A; p.A406A; 17:75568657-75568657	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2578G>C; p.G860R; 17:75573131-75573131	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.835C>T; p.P279S; 17:75563760-75563760	skin	malignant_melanoma	Substitution - Missense
c.2995G>A; p.G999R; 17:75574494-75574494	pancreas	carcinoma	Substitution - Missense
c.142G>A; p.A48T; 17:75556112-75556112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1002_1016del15; p.F335_T339del; 17:75564473-75564487	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.134G>A; p.R45H; 17:75556104-75556104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.134G>A; p.R45H; 17:75556104-75556104	thyroid	other; neoplasm	Substitution - Missense
c.1709C>T; p.P570L; 17:75570090-75570090	skin	malignant_melanoma	Substitution - Missense
c.2677G>A; p.E893K; 17:75573230-75573230	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2505G>T; p.L835L; 17:75573058-75573058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.564C>T; p.F188F; 17:75563049-75563049	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.870C>G; p.T290T; 17:75563795-75563795	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.2630C>T; p.S877L; 17:75573183-75573183	skin	malignant_melanoma	Substitution - Missense
c.1420G>A; p.D474N; 17:75569075-75569075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2706C>T; p.V902V; 17:75573259-75573259	skin	malignant_melanoma	Substitution - coding silent
c.284A>G; p.N95S; 17:75558540-75558540	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2625G>A; p.V875V; 17:75573178-75573178	skin	malignant_melanoma	Substitution - coding silent
c.1176C>T; p.H392H; 17:75568615-75568615	breast	carcinoma	Substitution - coding silent
c.836C>T; p.P279L; 17:75563761-75563761	skin	malignant_melanoma	Substitution - Missense
c.1425_1427delCAA; p.N476delN; 17:75569080-75569082	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.2725G>T; p.G909C; 17:75573278-75573278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1271delG; p.G424fs*5; 17:75568788-75568788	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1645C>T; p.L549L; 17:75570026-75570026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1510C>T; p.R504W; 17:75569254-75569254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.294delC; p.L99fs*4; 17:75558550-75558550	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.1855C>T; p.R619W; 17:75570236-75570236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2293G>A; p.A765T; 17:75571783-75571783	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2275C>T; p.P759S; 17:75571765-75571765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2275C>T; p.P759S; 17:75571765-75571765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2275C>T; p.P759S; 17:75571765-75571765	breast	carcinoma	Substitution - Missense
c.2275C>T; p.P759S; 17:75571765-75571765	breast	carcinoma	Substitution - Missense
c.25C>A; p.H9N; 17:75543451-75543451	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2275C>T; p.P759S; 17:75571765-75571765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1306G>C; p.D436H; 17:75568823-75568823	breast	carcinoma	Substitution - Missense
c.2370C>T; p.P790P; 17:75571974-75571974	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2370C>T; p.P790P; 17:75571974-75571974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2370C>T; p.P790P; 17:75571974-75571974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.50A>G; p.K17R; 17:75543476-75543476	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2108G>T; p.R703L; 17:75571032-75571032	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1627G>T; p.E543*; 17:75570008-75570008	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2137G>A; p.V713I; 17:75571061-75571061	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2637C>T; p.P879P; 17:75573190-75573190	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.861C>G; p.L287L; 17:75563786-75563786	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.343G>A; p.E115K; 17:75558599-75558599	oesophagus	carcinoma	Substitution - Missense
c.958G>A; p.D320N; 17:75564429-75564429	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.789C>T; p.A263A; 17:75563426-75563426	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.405C>T; p.V135V; 17:75559285-75559285	skin	malignant_melanoma	Substitution - coding silent
c.1335C>A; p.G445G; 17:75568990-75568990	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1572G>T; p.T524T; 17:75569316-75569316	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1508C>T; p.P503L; 17:75569252-75569252	skin	malignant_melanoma	Substitution - Missense
c.526C>T; p.Q176*; 17:75559406-75559406	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1688G>A; p.R563H; 17:75570069-75570069	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1391G>A; p.S464N; 17:75569046-75569046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.411A>G; p.P137P; 17:75559291-75559291	ovary	other; neoplasm	Substitution - coding silent
c.2530C>T; p.R844W; 17:75573083-75573083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2530C>T; p.R844W; 17:75573083-75573083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1848C>T; p.H616H; 17:75570229-75570229	skin	malignant_melanoma	Substitution - coding silent
c.749C>G; p.S250C; 17:75563386-75563386	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1706G>A; p.G569E; 17:75570087-75570087	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2322G>A; p.A774A; 17:75571926-75571926	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.316G>T; p.G106C; 17:75558572-75558572	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2462T>G; p.V821G; 17:75573015-75573015	skin	malignant_melanoma	Substitution - Missense
c.2218G>T; p.G740C; 17:75571708-75571708	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.406C>T; p.L136L; 17:75559286-75559286	skin	malignant_melanoma	Substitution - coding silent
c.746A>C; p.H249P; 17:75563383-75563383	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2216G>T; p.G739V; 17:75571706-75571706	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.390A>G; p.T130T; 17:75559270-75559270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.484C>T; p.R162C; 17:75559364-75559364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1816G>A; p.G606S; 17:75570197-75570197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1816G>A; p.G606S; 17:75570197-75570197	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1084G>A; p.V362M; 17:75568523-75568523	prostate	carcinoma	Substitution - Missense
c.213G>A; p.Q71Q; 17:75558194-75558194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2276C>T; p.P759L; 17:75571766-75571766	skin	malignant_melanoma	Substitution - Missense
c.2134T>C; p.F712L; 17:75571058-75571058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.534G>T; p.L178F; 17:75563019-75563019	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2349C>T; p.D783D; 17:75571953-75571953	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2016C>T; p.P672P; 17:75570489-75570489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.695A>G; p.Q232R; 17:75563332-75563332	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2749G>A; p.E917K; 17:75573504-75573504	NS	malignant_melanoma	Substitution - Missense
c.1972C>T; p.R658C; 17:75570445-75570445	ovary	other; neoplasm	Substitution - Missense
c.1972C>T; p.R658C; 17:75570445-75570445	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2671C>T; p.R891C; 17:75573224-75573224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.861C>T; p.L287L; 17:75563786-75563786	skin	malignant_melanoma	Substitution - coding silent
c.469C>G; p.Q157E; 17:75559349-75559349	breast	carcinoma	Substitution - Missense
c.1994G>A; p.R665Q; 17:75570467-75570467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1342C>T; p.R448W; 17:75568997-75568997	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2253C>T; p.P751P; 17:75571743-75571743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2852C>T; p.P951L; 17:75573607-75573607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1763C>G; p.P588R; 17:75570144-75570144	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.126G>A; p.P42P; 17:75556096-75556096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.228G>A; p.V76V; 17:75558209-75558209	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1359G>A; p.S453S; 17:75569014-75569014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1802G>A; p.R601Q; 17:75570183-75570183	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2111C>G; p.S704W; 17:75571035-75571035	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1248C>T; p.S416S; 17:75568687-75568687	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1819A>C; p.T607P; 17:75570200-75570200	breast	carcinoma	Substitution - Missense
c.2257G>A; p.E753K; 17:75571747-75571747	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.694-1G>A; p.?; 17:75563330-75563330	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.804C>T; p.P268P; 17:75563441-75563441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1995G>A; p.R665R; 17:75570468-75570468	breast	carcinoma	Substitution - coding silent
c.216G>A; p.E72E; 17:75558197-75558197	skin	malignant_melanoma	Substitution - coding silent
c.2136C>T; p.F712F; 17:75571060-75571060	skin	malignant_melanoma	Substitution - coding silent
c.2136C>T; p.F712F; 17:75571060-75571060	skin	malignant_melanoma	Substitution - coding silent
c.992G>T; p.R331L; 17:75564463-75564463	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2139C>T; p.V713V; 17:75571063-75571063	skin	malignant_melanoma	Substitution - coding silent
c.2568C>T; p.A856A; 17:75573121-75573121	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2550C>T; p.H850H; 17:75573103-75573103	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.517G>A; p.A173T; 17:75559397-75559397	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.609G>A; p.Q203Q; 17:75563094-75563094	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1834G>C; p.G612R; 17:75570215-75570215	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.124C>G; p.P42A; 17:75556094-75556094	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.1999C>T; p.R667W; 17:75570472-75570472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.836C>G; p.P279R; 17:75563761-75563761	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2965G>A; p.E989K; 17:75574464-75574464	skin; extremity	malignant_melanoma	Substitution - Missense
c.389C>G; p.T130R; 17:75559269-75559269	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1670G>T; p.R557L; 17:75570051-75570051	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1219_1225delGCCGGCA; p.S409fs*18; 17:75568658-75568664	breast	carcinoma	Deletion - Frameshift
c.2061C>T; p.G687G; 17:75570985-75570985	skin	malignant_melanoma	Substitution - coding silent
c.3052G>T; p.G1018*; 17:75574665-75574665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1351G>A; p.D451N; 17:75569006-75569006	skin	malignant_melanoma	Substitution - Missense
c.2675G>A; p.R892Q; 17:75573228-75573228	large_intestine	adenoma	Substitution - Missense
c.1573G>A; p.A525T; 17:75569317-75569317	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2247G>A; p.V749V; 17:75571737-75571737	central_nervous_system; brain	glioma	Substitution - coding silent
c.3024C>T; p.A1008A; 17:75574637-75574637	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1118C>T; p.P373L; 17:75568557-75568557	pancreas	carcinoma; adenocarcinoma	Substitution - Missense
c.2830C>T; p.R944C; 17:75573585-75573585	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.439G>A; p.G147S; 17:75559319-75559319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.859C>T; p.L287F; 17:75563784-75563784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2830C>T; p.R944C; 17:75573585-75573585	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.75G>A; p.K25K; 17:75543501-75543501	skin	malignant_melanoma	Substitution - coding silent
c.723C>T; p.D241D; 17:75563360-75563360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2647C>T; p.P883S; 17:75573200-75573200	skin	malignant_melanoma	Substitution - Missense
c.2794C>T; p.R932W; 17:75573549-75573549	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3000C>T; p.S1000S; 17:75574613-75574613	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - coding silent
c.2287G>T; p.E763*; 17:75571777-75571777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.513G>C; p.S171S; 17:75559393-75559393	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2795G>T; p.R932L; 17:75573550-75573550	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1681C>A; p.H561N; 17:75570062-75570062	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1681C>A; p.H561N; 17:75570062-75570062	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1681C>A; p.H561N; 17:75570062-75570062	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1681C>A; p.H561N; 17:75570062-75570062	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2515G>C; p.E839Q; 17:75573068-75573068	breast	carcinoma	Substitution - Missense
c.389C>T; p.T130I; 17:75559269-75559269	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1190C>T; p.P397L; 17:75568629-75568629	skin	malignant_melanoma	Substitution - Missense
c.2146C>A; p.L716M; 17:75571070-75571070	large_intestine; colon	carcinoma	Substitution - Missense
c.1412C>T; p.T471I; 17:75569067-75569067	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2146C>A; p.L716M; 17:75571070-75571070	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1917A>G; p.P639P; 17:75570390-75570390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2596G>C; p.V866L; 17:75573149-75573149	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.151_157delACCCGTT; p.T51fs*24; 17:75556121-75556127	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2795G>A; p.R932Q; 17:75573550-75573550	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1761C>T; p.P587P; 17:75570142-75570142	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.573G>A; p.V191V; 17:75563058-75563058	skin	malignant_melanoma	Substitution - coding silent
c.1338G>A; p.T446T; 17:75568993-75568993	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.24G>T; p.G8G; 17:75543450-75543450	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2350G>A; p.G784R; 17:75571954-75571954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1954C>T; p.Q652*; 17:75570427-75570427	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2755G>A; p.E919K; 17:75573510-75573510	skin	malignant_melanoma	Substitution - Missense
c.2755G>A; p.E919K; 17:75573510-75573510	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2758C>T; p.R920C; 17:75573513-75573513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.753C>T; p.D251D; 17:75563390-75563390	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.753C>T; p.D251D; 17:75563390-75563390	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2657G>A; p.R886H; 17:75573210-75573210	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2113G>A; p.A705T; 17:75571037-75571037	skin	malignant_melanoma	Substitution - Missense
c.725G>T; p.G242V; 17:75563362-75563362	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2380G>A; p.E794K; 17:75571984-75571984	skin	malignant_melanoma	Substitution - Missense
c.231G>A; p.T77T; 17:75558212-75558212	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2256C>T; p.A752A; 17:75571746-75571746	skin	malignant_melanoma	Substitution - coding silent
c.2283G>T; p.R761R; 17:75571773-75571773	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.190G>T; p.V64L; 17:75558171-75558171	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.288C>T; p.S96S; 17:75558544-75558544	skin	malignant_melanoma	Substitution - coding silent
c.1236C>T; p.N412N; 17:75568675-75568675	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1029T>C; p.P343P; 17:75564500-75564500	urinary_tract; bladder	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]