Entrez Gene

Basic Information
Gene ID	202
Name	AIM1
Synonymous	absent in melanoma 1;AIM1;absent in melanoma 1
Definition	absent in melanoma 1 protein\|beta-gamma crystallin domain containing 1\|beta/gamma crystallin domain-containing protein 1\|suppression of tumorigenicity 4 (malignant melanoma)
Position	6q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2198C>T; p.P733L; 6:106520630-106520630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3988G>A; p.G1330R; 6:106544833-106544833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1945_1946CC>TT; p.P649F; 6:106520377-106520378	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3731T>C; p.M1244T; 6:106543513-106543513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3862C>T; p.L1288L; 6:106544617-106544617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3318G>T; p.K1106N; 6:106527434-106527434	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1492G>C; p.E498Q; 6:106519924-106519924	breast	carcinoma	Substitution - Missense
c.3798G>C; p.M1266I; 6:106543580-106543580	breast	carcinoma	Substitution - Missense
c.4759C>T; p.R1587*; 6:106561345-106561345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4902T>C; p.C1634C; 6:106561488-106561488	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1555G>T; p.E519*; 6:106519987-106519987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2546C>A; p.S849Y; 6:106520978-106520978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1968A>T; p.G656G; 6:106520400-106520400	breast	carcinoma; luminal_NS_carcinoma	Substitution - coding silent
c.1856C>A; p.P619Q; 6:106520288-106520288	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1268T>G; p.V423G; 6:106519700-106519700	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3434A>C; p.E1145A; 6:106530255-106530255	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1395T>A; p.S465S; 6:106519827-106519827	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.187C>G; p.R63G; 6:106512528-106512528	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2912C>A; p.S971*; 6:106521344-106521344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4579C>T; p.R1527*; 6:106558573-106558573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2878G>A; p.E960K; 6:106521310-106521310	skin	malignant_melanoma	Substitution - Missense
c.1774G>C; p.A592P; 6:106520206-106520206	thyroid	other; neoplasm	Substitution - Missense
c.2633C>T; p.P878L; 6:106521065-106521065	skin	malignant_melanoma	Substitution - Missense
c.1173A>T; p.P391P; 6:106519605-106519605	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1919G>A; p.R640K; 6:106520351-106520351	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1198A>G; p.K400E; 6:106519630-106519630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2581G>A; p.A861T; 6:106521013-106521013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2774A>G; p.Y925C; 6:106521206-106521206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1533C>A; p.N511K; 6:106519965-106519965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3167T>C; p.L1056P; 6:106525365-106525365	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1492G>A; p.E498K; 6:106519924-106519924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.14C>T; p.S5F; 6:106512355-106512355	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2606C>T; p.S869F; 6:106521038-106521038	skin	malignant_melanoma	Substitution - Missense
c.4760G>A; p.R1587Q; 6:106561346-106561346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2506T>C; p.S836P; 6:106520938-106520938	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3948T>G; p.F1316L; 6:106544793-106544793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1656C>T; p.F552F; 6:106520088-106520088	skin	malignant_melanoma	Substitution - coding silent
c.1656C>T; p.F552F; 6:106520088-106520088	skin	malignant_melanoma	Substitution - coding silent
c.3695G>A; p.C1232Y; 6:106543477-106543477	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1853G>T; p.G618V; 6:106520285-106520285	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3186A>G; p.G1062G; 6:106525384-106525384	pancreas	carcinoma	Substitution - coding silent
c.2027C>T; p.P676L; 6:106520459-106520459	skin	malignant_melanoma	Substitution - Missense
c.2020G>A; p.D674N; 6:106520452-106520452	skin	malignant_melanoma	Substitution - Missense
c.4980G>A; p.L1660L; 6:106563829-106563829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.871C>T; p.R291*; 6:106519303-106519303	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2278C>T; p.Q760*; 6:106520710-106520710	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2691C>G; p.P897P; 6:106521123-106521123	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.217G>T; p.A73S; 6:106512558-106512558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3570C>T; p.S1190S; 6:106539478-106539478	skin	malignant_melanoma	Substitution - coding silent
c.4241G>A; p.R1414Q; 6:106552209-106552209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3058C>G; p.R1020G; 6:106525169-106525169	skin	malignant_melanoma	Substitution - Missense
c.1240G>A; p.D414N; 6:106519672-106519672	breast	carcinoma	Substitution - Missense
c.1685T>A; p.V562E; 6:106520117-106520117	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1923A>C; p.T641T; 6:106520355-106520355	skin	malignant_melanoma	Substitution - coding silent
c.3589G>A; p.A1197T; 6:106539497-106539497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2182C>A; p.P728T; 6:106520614-106520614	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2930C>T; p.A977V; 6:106521362-106521362	breast	carcinoma	Substitution - Missense
c.2688G>A; p.L896L; 6:106521120-106521120	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2803C>T; p.L935L; 6:106521235-106521235	skin	malignant_melanoma	Substitution - coding silent
c.4247delA; p.Q1416fs*80; 6:106552215-106552215	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5078-1G>A; p.?; 6:106568471-106568471	skin	malignant_melanoma	Unknown
c.511C>T; p.L171L; 6:106512852-106512852	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3929G>A; p.R1310Q; 6:106544684-106544684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3929G>A; p.R1310Q; 6:106544684-106544684	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3565T>C; p.L1189L; 6:106539473-106539473	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4887C>T; p.I1629I; 6:106561473-106561473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2100C>A; p.F700L; 6:106520532-106520532	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3975T>A; p.S1325R; 6:106544820-106544820	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2748G>A; p.L916L; 6:106521180-106521180	skin	malignant_melanoma	Substitution - coding silent
c.2127C>T; p.S709S; 6:106520559-106520559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1379C>T; p.S460L; 6:106519811-106519811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4481T>G; p.F1494C; 6:106555887-106555887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3950C>G; p.S1317*; 6:106544795-106544795	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2882_2907del26; p.A962fs*10; 6:106521314-106521339	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1045G>T; p.E349*; 6:106519477-106519477	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4071T>G; p.I1357M; 6:106544916-106544916	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1045G>T; p.E349*; 6:106519477-106519477	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2030C>T; p.A677V; 6:106520462-106520462	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3496T>G; p.W1166G; 6:106539404-106539404	breast	carcinoma	Substitution - Missense
c.2030C>T; p.A677V; 6:106520462-106520462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1105C>G; p.L369V; 6:106519537-106519537	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1105C>G; p.L369V; 6:106519537-106519537	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4915A>G; p.I1639V; 6:106563764-106563764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1396C>T; p.L466F; 6:106519828-106519828	skin	malignant_melanoma	Substitution - Missense
c.3884A>G; p.D1295G; 6:106544639-106544639	central_nervous_system; brain	glioma	Substitution - Missense
c.4997C>G; p.A1666G; 6:106563846-106563846	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1380A>C; p.S460S; 6:106519812-106519812	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447C>T; p.Q483*; 6:106519879-106519879	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1447C>T; p.Q483*; 6:106519879-106519879	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1368C>T; p.S456S; 6:106519800-106519800	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.2977G>T; p.D993Y; 6:106521409-106521409	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>T; p.L546L; 6:106520070-106520070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3354+1G>A; p.?; 6:106527471-106527471	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3450T>C; p.F1150F; 6:106530271-106530271	skin	malignant_melanoma	Substitution - coding silent
c.919G>C; p.A307P; 6:106519351-106519351	breast	carcinoma	Substitution - Missense
c.4863C>T; p.V1621V; 6:106561449-106561449	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5025C>T; p.S1675S; 6:106563874-106563874	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3810A>G; p.R1270R; 6:106543592-106543592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2248A>G; p.T750A; 6:106520680-106520680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3485A>T; p.H1162L; 6:106530306-106530306	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1627T>C; p.S543P; 6:106520059-106520059	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4733G>A; p.G1578D; 6:106560904-106560904	skin	malignant_melanoma	Substitution - Missense
c.1627T>C; p.S543P; 6:106520059-106520059	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1852G>T; p.G618C; 6:106520284-106520284	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1837C>T; p.L613F; 6:106520269-106520269	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.829G>A; p.E277K; 6:106519261-106519261	skin	malignant_melanoma	Substitution - Missense
c.2992T>G; p.F998V; 6:106521424-106521424	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3606G>A; p.M1202I; 6:106539514-106539514	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.39G>T; p.R13R; 6:106512380-106512380	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1855C>T; p.P619S; 6:106520287-106520287	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2421G>A; p.V807V; 6:106520853-106520853	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1892C>G; p.P631R; 6:106520324-106520324	bone; humerus	chondrosarcoma	Substitution - Missense
c.4666C>T; p.R1556*; 6:106560837-106560837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1043C>T; p.S348L; 6:106519475-106519475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2642A>T; p.E881V; 6:106521074-106521074	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4207A>G; p.I1403V; 6:106551970-106551970	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3511G>T; p.E1171*; 6:106539419-106539419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2221G>T; p.E741*; 6:106520653-106520653	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4072delA; p.N1358fs*3; 6:106544917-106544917	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4072delA; p.N1358fs*3; 6:106544917-106544917	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.3629G>A; p.R1210H; 6:106541593-106541593	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2723C>T; p.S908L; 6:106521155-106521155	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2723C>T; p.S908L; 6:106521155-106521155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2347C>T; p.R783C; 6:106520779-106520779	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2313G>A; p.Q771Q; 6:106520745-106520745	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2347C>T; p.R783C; 6:106520779-106520779	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1956T>C; p.S652S; 6:106520388-106520388	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4917A>G; p.I1639M; 6:106563766-106563766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4917A>G; p.I1639M; 6:106563766-106563766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4357G>A; p.G1453S; 6:106553563-106553563	skin	malignant_melanoma	Substitution - Missense
c.3494+3A>G; p.?; 6:106530318-106530318	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.4766A>G; p.Y1589C; 6:106561352-106561352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2295G>A; p.P765P; 6:106520727-106520727	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3928C>T; p.R1310*; 6:106544683-106544683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4173A>T; p.G1391G; 6:106551936-106551936	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1045G>A; p.E349K; 6:106519477-106519477	breast	carcinoma	Substitution - Missense
c.4184G>A; p.C1395Y; 6:106551947-106551947	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.886A>G; p.T296A; 6:106519318-106519318	breast	carcinoma	Substitution - Missense
c.4184G>A; p.C1395Y; 6:106551947-106551947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1612G>T; p.G538*; 6:106520044-106520044	breast	carcinoma	Substitution - Nonsense
c.4193C>T; p.S1398F; 6:106551956-106551956	skin	malignant_melanoma	Substitution - Missense
c.4548G>C; p.K1516N; 6:106558542-106558542	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2382C>T; p.S794S; 6:106520814-106520814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4742G>A; p.R1581Q; 6:106560913-106560913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308A>T; p.M770L; 6:106520740-106520740	thyroid	carcinoma	Substitution - Missense
c.3051C>A; p.L1017L; 6:106525162-106525162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3230T>G; p.I1077S; 6:106527346-106527346	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3230T>G; p.I1077S; 6:106527346-106527346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3976G>A; p.E1326K; 6:106544821-106544821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2258T>G; p.L753W; 6:106520690-106520690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2350G>A; p.A784T; 6:106520782-106520782	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2199T>C; p.P733P; 6:106520631-106520631	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.661G>T; p.G221C; 6:106513002-106513002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3595A>T; p.I1199F; 6:106539503-106539503	pancreas	carcinoma	Substitution - Missense
c.3607C>T; p.R1203W; 6:106539515-106539515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5078-4T>C; p.?; 6:106568468-106568468	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1595G>A; p.R532H; 6:106520027-106520027	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2806G>A; p.D936N; 6:106521238-106521238	skin	malignant_melanoma	Substitution - Missense
c.4176C>T; p.G1392G; 6:106551939-106551939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1524T>C; p.S508S; 6:106519956-106519956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3258C>T; p.L1086L; 6:106527374-106527374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4982C>T; p.A1661V; 6:106563831-106563831	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.4855G>A; p.E1619K; 6:106561441-106561441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.788C>A; p.P263Q; 6:106519220-106519220	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4149T>G; p.F1383L; 6:106551912-106551912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1471T>C; p.C491R; 6:106519903-106519903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3313G>C; p.D1105H; 6:106527429-106527429	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1081G>A; p.G361R; 6:106519513-106519513	skin	malignant_melanoma	Substitution - Missense
c.157G>T; p.A53S; 6:106512498-106512498	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1722A>T; p.R574S; 6:106520154-106520154	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.741T>A; p.P247P; 6:106519173-106519173	breast	carcinoma	Substitution - coding silent
c.997G>T; p.G333C; 6:106519429-106519429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3057C>T; p.P1019P; 6:106525168-106525168	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.460G>T; p.E154*; 6:106512801-106512801	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.3285T>G; p.I1095M; 6:106527401-106527401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4962T>G; p.S1654S; 6:106563811-106563811	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3356A>T; p.D1119V; 6:106530177-106530177	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2092G>A; p.E698K; 6:106520524-106520524	skin	malignant_melanoma	Substitution - Missense
c.3238G>A; p.E1080K; 6:106527354-106527354	skin	malignant_melanoma	Substitution - Missense
c.2590A>G; p.T864A; 6:106521022-106521022	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4209A>G; p.I1403M; 6:106551972-106551972	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3238G>A; p.E1080K; 6:106527354-106527354	skin	malignant_melanoma	Substitution - Missense
c.2239A>T; p.K747*; 6:106520671-106520671	breast	carcinoma	Substitution - Nonsense
c.1467C>T; p.F489F; 6:106519899-106519899	skin	malignant_melanoma	Substitution - coding silent
c.1699A>T; p.I567F; 6:106520131-106520131	skin	malignant_melanoma	Substitution - Missense
c.1699A>T; p.I567F; 6:106520131-106520131	skin	malignant_melanoma	Substitution - Missense
c.1851T>C; p.S617S; 6:106520283-106520283	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.231G>A; p.E77E; 6:106512572-106512572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4541G>A; p.G1514E; 6:106558535-106558535	skin	malignant_melanoma	Substitution - Missense
c.231G>A; p.E77E; 6:106512572-106512572	thyroid	other; neoplasm	Substitution - coding silent
c.4724G>A; p.R1575H; 6:106560895-106560895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1987C>G; p.Q663E; 6:106520419-106520419	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2235T>G; p.D745E; 6:106520667-106520667	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4745C>T; p.P1582L; 6:106560916-106560916	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.189G>T; p.R63R; 6:106512530-106512530	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.780T>C; p.F260F; 6:106519212-106519212	skin	malignant_melanoma	Substitution - coding silent
c.4706A>T; p.Y1569F; 6:106560877-106560877	oesophagus	carcinoma	Substitution - Missense
c.2747T>A; p.L916*; 6:106521179-106521179	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3836C>T; p.P1279L; 6:106544591-106544591	thyroid	carcinoma	Substitution - Missense
c.1604A>C; p.E535A; 6:106520036-106520036	skin	malignant_melanoma	Substitution - Missense
c.2422A>G; p.M808V; 6:106520854-106520854	breast	carcinoma	Substitution - Missense
c.2549C>T; p.P850L; 6:106520981-106520981	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3494+7_3494+8insT; p.?; 6:106530322-106530323	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1958C>G; p.P653R; 6:106520390-106520390	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4019G>A; p.G1340E; 6:106544864-106544864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3989G>T; p.G1330V; 6:106544834-106544834	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3989G>T; p.G1330V; 6:106544834-106544834	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1869G>A; p.P623P; 6:106520301-106520301	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1594C>T; p.R532C; 6:106520026-106520026	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3144T>A; p.S1048S; 6:106525342-106525342	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2404A>G; p.N802D; 6:106520836-106520836	liver	carcinoma	Substitution - Missense
c.2404A>G; p.N802D; 6:106520836-106520836	liver	carcinoma	Substitution - Missense
c.4573A>G; p.N1525D; 6:106558567-106558567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2547T>G; p.S849S; 6:106520979-106520979	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4688C>A; p.A1563E; 6:106560859-106560859	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5157G>A; p.M1719I; 6:106568551-106568551	breast	carcinoma	Substitution - Missense
c.3633A>G; p.K1211K; 6:106541597-106541597	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3265C>G; p.L1089V; 6:106527381-106527381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1015A>T; p.T339S; 6:106519447-106519447	liver	carcinoma	Substitution - Missense
c.3265C>G; p.L1089V; 6:106527381-106527381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3189-2A>T; p.?; 6:106527303-106527303	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3189-2A>T; p.?; 6:106527303-106527303	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.5119_5122delGTCA; p.V1707fs*>16; 6:106568513-106568516	liver	carcinoma	Deletion - Frameshift
c.89C>A; p.P30H; 6:106512430-106512430	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1624C>T; p.P542S; 6:106520056-106520056	skin	malignant_melanoma	Substitution - Missense
c.89C>A; p.P30H; 6:106512430-106512430	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1991G>T; p.R664M; 6:106520423-106520423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3595A>G; p.I1199V; 6:106539503-106539503	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1997A>G; p.D666G; 6:106520429-106520429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.812C>A; p.T271N; 6:106519244-106519244	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3777G>A; p.P1259P; 6:106543559-106543559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1787C>T; p.P596L; 6:106520219-106520219	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1787_1801del15; p.P596_V601>L; 6:106520219-106520233	large_intestine; caecum	carcinoma; adenocarcinoma	Complex - deletion inframe
c.1791A>G; p.P597P; 6:106520223-106520223	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1899G>C; p.Q633H; 6:106520331-106520331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1966G>A; p.G656R; 6:106520398-106520398	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2078C>G; p.S693C; 6:106520510-106520510	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.275C>G; p.S92W; 6:106512616-106512616	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.878A>G; p.Q293R; 6:106519310-106519310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.144G>T; p.A48A; 6:106512485-106512485	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1493A>G; p.E498G; 6:106519925-106519925	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.887C>T; p.T296I; 6:106519319-106519319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1493A>G; p.E498G; 6:106519925-106519925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1854C>T; p.G618G; 6:106520286-106520286	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4411G>A; p.E1471K; 6:106555817-106555817	skin	malignant_melanoma	Substitution - Missense
c.3977delA; p.N1328fs*18; 6:106544822-106544822	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4345_4346delAG; p.R1449fs*10; 6:106553551-106553552	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3642C>T; p.F1214F; 6:106541606-106541606	skin	malignant_melanoma	Substitution - coding silent
c.3958C>A; p.H1320N; 6:106544803-106544803	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1770C>T; p.S590S; 6:106520202-106520202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3977delA; p.N1328fs*18; 6:106544822-106544822	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1857A>G; p.P619P; 6:106520289-106520289	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2652G>T; p.P884P; 6:106521084-106521084	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2070A>G; p.V690V; 6:106520502-106520502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4666delC; p.R1556fs*22; 6:106560837-106560837	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3G>T; p.M1I; 6:106512344-106512344	prostate	carcinoma	Substitution - Missense
c.60C>A; p.T20T; 6:106512401-106512401	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1637T>C; p.L546P; 6:106520069-106520069	skin	malignant_melanoma	Substitution - Missense
c.1637T>C; p.L546P; 6:106520069-106520069	skin	malignant_melanoma	Substitution - Missense
c.1569A>C; p.E523D; 6:106520001-106520001	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4763T>C; p.I1588T; 6:106561349-106561349	central_nervous_system; brain	glioma	Substitution - Missense
c.4450C>T; p.P1484S; 6:106555856-106555856	skin	malignant_melanoma	Substitution - Missense
c.3936A>G; p.I1312M; 6:106544691-106544691	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4949G>A; p.S1650N; 6:106563798-106563798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4331C>T; p.S1444F; 6:106553537-106553537	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4331C>T; p.S1444F; 6:106553537-106553537	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4741C>T; p.R1581*; 6:106560912-106560912	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2912C>T; p.S971L; 6:106521344-106521344	skin	malignant_melanoma	Substitution - Missense
c.4741C>T; p.R1581*; 6:106560912-106560912	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.186G>T; p.P62P; 6:106512527-106512527	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1562G>C; p.G521A; 6:106519994-106519994	breast	carcinoma	Substitution - Missense
c.4912A>G; p.R1638G; 6:106561498-106561498	oesophagus	carcinoma	Substitution - Missense
c.4516C>A; p.L1506I; 6:106558510-106558510	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3526G>T; p.G1176C; 6:106539434-106539434	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1447C>G; p.Q483E; 6:106519879-106519879	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4777C>T; p.R1593*; 6:106561363-106561363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4777C>T; p.R1593*; 6:106561363-106561363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4777C>T; p.R1593*; 6:106561363-106561363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2455G>A; p.V819I; 6:106520887-106520887	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2455G>A; p.V819I; 6:106520887-106520887	oesophagus	carcinoma	Substitution - Missense
c.1216G>C; p.E406Q; 6:106519648-106519648	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3446G>A; p.G1149E; 6:106530267-106530267	skin	malignant_melanoma	Substitution - Missense
c.3376G>T; p.D1126Y; 6:106530197-106530197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3881G>C; p.R1294T; 6:106544636-106544636	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1769C>T; p.S590F; 6:106520201-106520201	skin	malignant_melanoma	Substitution - Missense
c.4004G>T; p.S1335I; 6:106544849-106544849	thyroid	carcinoma	Substitution - Missense
c.4916T>C; p.I1639T; 6:106563765-106563765	breast	carcinoma; ductal_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]