Entrez Gene

Basic Information
Gene ID	9844
Name	ELMO1
Synonymous	engulfment and cell motility 1;ELMO1;engulfment and cell motility 1
Definition	ced-12 homolog 1\|engulfment and cell motility protein 1
Position	7p14.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.12C>T; p.P4P; 7:37342679-37342679	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.336G>A; p.R112R; 7:37259258-37259258	skin	malignant_melanoma	Substitution - coding silent
c.1742C>T; p.P581L; 7:36878090-36878090	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1143G>T; p.L381L; 7:37133178-37133178	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.56C>T; p.P19L; 7:37342635-37342635	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.916G>C; p.E306Q; 7:37213373-37213373	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.100A>C; p.I34L; 7:37315939-37315939	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.295G>A; p.A99T; 7:37259299-37259299	skin; upper_back	malignant_melanoma	Substitution - Missense
c.388A>C; p.T130P; 7:37259206-37259206	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.913C>A; p.L305M; 7:37213376-37213376	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1297T>C; p.L433L; 7:37096622-37096622	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.903C>T; p.T301T; 7:37213386-37213386	skin	malignant_melanoma	Substitution - coding silent
c.342C>T; p.V114V; 7:37259252-37259252	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.606G>A; p.L202L; 7:37224974-37224974	liver	carcinoma	Substitution - coding silent
c.1960T>G; p.F654V; 7:36861682-36861682	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.869T>G; p.M290R; 7:37213420-37213420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>T; p.S207L; 7:37224960-37224960	skin	malignant_melanoma	Substitution - Missense
c.438C>T; p.I146I; 7:37244367-37244367	skin	malignant_melanoma	Substitution - coding silent
c.1815G>A; p.Q605Q; 7:36878017-36878017	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1038G>A; p.E346E; 7:37211434-37211434	skin	malignant_melanoma	Substitution - coding silent
c.524C>T; p.T175I; 7:37233120-37233120	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.982C>G; p.R328G; 7:37211490-37211490	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1860G>A; p.K620K; 7:36870438-36870438	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1611G>A; p.K537K; 7:36887663-36887663	skin	malignant_melanoma	Substitution - coding silent
c.982C>G; p.R328G; 7:37211490-37211490	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.954+8C>T; p.?; 7:37213327-37213327	pancreas	carcinoma	Unknown
c.345G>A; p.T115T; 7:37259249-37259249	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.660G>A; p.A220A; 7:37224920-37224920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.175T>C; p.F59L; 7:37314867-37314867	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.741T>G; p.I247M; 7:37222654-37222654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.14C>T; p.A5V; 7:37342677-37342677	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>A; p.E289K; 7:37213424-37213424	skin; axilla	malignant_melanoma	Substitution - Missense
c.1208G>A; p.S403N; 7:37096711-37096711	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1060C>T; p.R354*; 7:37211412-37211412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1171C>A; p.H391N; 7:37133150-37133150	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.246T>C; p.A82A; 7:37259348-37259348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1399T>C; p.W467R; 7:37013337-37013337	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.741T>C; p.I247I; 7:37222654-37222654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1252A>G; p.I418V; 7:37096667-37096667	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.661C>T; p.Q221*; 7:37224919-37224919	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.661C>T; p.Q221*; 7:37224919-37224919	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1353C>A; p.S451S; 7:37013383-37013383	liver	carcinoma	Substitution - coding silent
c.1702C>G; p.R568G; 7:36887572-36887572	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1174C>A; p.Q392K; 7:37133147-37133147	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2166C>T; p.F722F; 7:36855569-36855569	skin	malignant_melanoma	Substitution - coding silent
c.1110C>T; p.D370D; 7:37133211-37133211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1353C>A; p.S451S; 7:37013383-37013383	liver	carcinoma	Substitution - coding silent
c.86C>T; p.P29L; 7:37315953-37315953	skin	malignant_melanoma	Substitution - Missense
c.1699G>T; p.A567S; 7:36887575-36887575	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2125G>T; p.A709S; 7:36855610-36855610	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1292G>A; p.G431D; 7:37096627-37096627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.244G>T; p.A82S; 7:37259350-37259350	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.773G>A; p.R258K; 7:37222622-37222622	skin	malignant_melanoma	Substitution - Missense
c.2132C>T; p.P711L; 7:36855603-36855603	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1219G>C; p.D407H; 7:37096700-37096700	breast	carcinoma	Substitution - Missense
c.1739C>T; p.S580L; 7:36878093-36878093	skin	malignant_melanoma	Substitution - Missense
c.1163C>T; p.A388V; 7:37133158-37133158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1826C>T; p.P609L; 7:36870472-36870472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1758G>A; p.L586L; 7:36878074-36878074	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1826C>T; p.P609L; 7:36870472-36870472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1752A>C; p.K584N; 7:36878080-36878080	breast	carcinoma	Substitution - Missense
c.1135T>C; p.L379L; 7:37133186-37133186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.863A>G; p.N288S; 7:37213426-37213426	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>A; p.L304L; 7:37213377-37213377	skin	malignant_melanoma	Substitution - coding silent
c.49G>A; p.A17T; 7:37342642-37342642	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.166A>G; p.S56G; 7:37314876-37314876	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.A17T; 7:37342642-37342642	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1095C>A; p.V365V; 7:37133226-37133226	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1755C>T; p.V585V; 7:36878077-36878077	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1732C>A; p.R578R; 7:36878100-36878100	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.747G>A; p.A249A; 7:37222648-37222648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1407A>G; p.E469E; 7:37013329-37013329	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.120-1G>A; p.?; 7:37314923-37314923	skin	malignant_melanoma	Unknown
c.1359G>A; p.E453E; 7:37013377-37013377	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.659C>T; p.A220V; 7:37224921-37224921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1332G>T; p.M444I; 7:37013404-37013404	breast	carcinoma	Substitution - Missense
c.659C>T; p.A220V; 7:37224921-37224921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.113G>T; p.C38F; 7:37315926-37315926	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.814_815CG>AT; p.R272I; 7:37216661-37216662	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.838A>G; p.I280V; 7:37213451-37213451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1184A>T; p.Y395F; 7:37133137-37133137	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1856G>A; p.G619E; 7:36870442-36870442	skin	malignant_melanoma	Substitution - Missense
c.1706G>A; p.R569Q; 7:36887568-36887568	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1300C>T; p.P434S; 7:37096619-37096619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1099C>G; p.P367A; 7:37133222-37133222	thyroid	carcinoma	Substitution - Missense
c.13G>A; p.A5T; 7:37342678-37342678	pancreas	carcinoma	Substitution - Missense
c.13G>A; p.A5T; 7:37342678-37342678	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.13G>A; p.A5T; 7:37342678-37342678	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1635A>T; p.L545F; 7:36887639-36887639	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1584C>T; p.F528F; 7:36894871-36894871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1262C>A; p.T421N; 7:37096657-37096657	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1440A>G; p.V480V; 7:36895015-36895015	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1654C>A; p.R552S; 7:36887620-36887620	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1321T>C; p.F441L; 7:37013415-37013415	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1774G>A; p.E592K; 7:36878058-36878058	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1392C>A; p.N464K; 7:37013344-37013344	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1823T>G; p.L608R; 7:36870475-36870475	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.588G>T; p.S196S; 7:37224992-37224992	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.45G>T; p.P15P; 7:37342646-37342646	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.714A>C; p.E238D; 7:37222681-37222681	breast	carcinoma	Substitution - Missense
c.887T>C; p.V296A; 7:37213402-37213402	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.621G>A; p.S207S; 7:37224959-37224959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.621G>A; p.S207S; 7:37224959-37224959	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.363A>T; p.I121I; 7:37259231-37259231	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1293C>T; p.G431G; 7:37096626-37096626	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1086+1G>T; p.?; 7:37211385-37211385	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2101C>A; p.L701M; 7:36855634-36855634	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1808C>T; p.S603F; 7:36878024-36878024	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1808C>T; p.S603F; 7:36878024-36878024	skin	malignant_melanoma	Substitution - Missense
c.374G>C; p.G125A; 7:37259220-37259220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1974C>A; p.D658E; 7:36861668-36861668	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1228G>A; p.E410K; 7:37096691-37096691	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1785T>C; p.P595P; 7:36878047-36878047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.840C>T; p.I280I; 7:37213449-37213449	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1344C>G; p.H448Q; 7:37013392-37013392	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1663C>T; p.R555C; 7:36887611-36887611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1889_1890CC>TT; p.A630V; 7:36870408-36870409	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.139G>T; p.E47*; 7:37314903-37314903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1679C>T; p.T560I; 7:36887595-36887595	stomach	adenocarcinoma	Substitution - Missense
c.1146C>G; p.D382E; 7:37133175-37133175	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.954+3G>T; p.?; 7:37213332-37213332	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.207A>G; p.I69M; 7:37271868-37271868	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2030T>C; p.M677T; 7:36855705-36855705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.197G>A; p.R66H; 7:37271878-37271878	oesophagus	carcinoma	Substitution - Missense
c.123G>A; p.W41*; 7:37314919-37314919	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.107A>T; p.E36V; 7:37315932-37315932	skin	malignant_melanoma	Substitution - Missense
c.1270C>T; p.L424L; 7:37096649-37096649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1046A>G; p.K349R; 7:37211426-37211426	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.923G>A; p.R308K; 7:37213366-37213366	skin	malignant_melanoma	Substitution - Missense
c.1948T>G; p.C650G; 7:36861694-36861694	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.872C>T; p.A291V; 7:37213417-37213417	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.227G>T; p.R76L; 7:37271848-37271848	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.163G>A; p.D55N; 7:37314879-37314879	skin	malignant_melanoma	Substitution - Missense
c.872C>T; p.A291V; 7:37213417-37213417	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.872C>T; p.A291V; 7:37213417-37213417	breast	carcinoma	Substitution - Missense
c.701G>A; p.G234E; 7:37224879-37224879	skin	malignant_melanoma	Substitution - Missense
c.163G>A; p.D55N; 7:37314879-37314879	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1086+1G>A; p.?; 7:37211385-37211385	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.284C>T; p.S95L; 7:37259310-37259310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.284C>T; p.S95L; 7:37259310-37259310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1823-3C>A; p.?; 7:36870478-36870478	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.788C>T; p.A263V; 7:37216688-37216688	breast	carcinoma	Substitution - Missense
c.16G>A; p.D6N; 7:37342675-37342675	skin	malignant_melanoma	Substitution - Missense
c.1804G>A; p.D602N; 7:36878028-36878028	skin	malignant_melanoma	Substitution - Missense
c.14C>A; p.A5E; 7:37342677-37342677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.16G>A; p.D6N; 7:37342675-37342675	skin	malignant_melanoma	Substitution - Missense
c.519G>A; p.W173*; 7:37233125-37233125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.530C>T; p.S177L; 7:37233114-37233114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.530C>T; p.S177L; 7:37233114-37233114	skin	malignant_melanoma	Substitution - Missense
c.530C>T; p.S177L; 7:37233114-37233114	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1490G>C; p.S497T; 7:36894965-36894965	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.530C>T; p.S177L; 7:37233114-37233114	skin	malignant_melanoma	Substitution - Missense
c.530C>T; p.S177L; 7:37233114-37233114	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.934A>G; p.K312E; 7:37213355-37213355	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.934A>G; p.K312E; 7:37213355-37213355	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.753C>T; p.F251F; 7:37222642-37222642	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.416G>A; p.R139Q; 7:37244389-37244389	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947A>C; p.Q316P; 7:37213342-37213342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1888G>A; p.A630T; 7:36870410-36870410	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.947A>C; p.Q316P; 7:37213342-37213342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.R139Q; 7:37244389-37244389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.370G>A; p.D124N; 7:37259224-37259224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.832-4C>T; p.?; 7:37213461-37213461	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.416G>A; p.R139Q; 7:37244389-37244389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416G>A; p.R139Q; 7:37244389-37244389	skin	malignant_melanoma	Substitution - Missense
c.1872T>A; p.H624Q; 7:36870426-36870426	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.272G>A; p.R91Q; 7:37259322-37259322	skin	malignant_melanoma	Substitution - Missense
c.206T>A; p.I69K; 7:37271869-37271869	urinary_tract; bladder	carcinoma	Substitution - Missense
c.927G>A; p.M309I; 7:37213362-37213362	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1099C>A; p.P367T; 7:37133222-37133222	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.549G>A; p.K183K; 7:37233095-37233095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.373G>C; p.G125R; 7:37259221-37259221	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1263C>A; p.T421T; 7:37096656-37096656	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1998G>A; p.T666T; 7:36855737-36855737	thyroid	other; neoplasm	Substitution - coding silent
c.1998G>A; p.T666T; 7:36855737-36855737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.699A>T; p.Q233H; 7:37224881-37224881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1115C>T; p.T372M; 7:37133206-37133206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1115C>T; p.T372M; 7:37133206-37133206	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1115C>T; p.T372M; 7:37133206-37133206	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1613A>T; p.E538V; 7:36887661-36887661	skin	malignant_melanoma	Substitution - Missense
c.479C>T; p.T160M; 7:37233165-37233165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.T241I; 7:37222673-37222673	urinary_tract; bladder	carcinoma	Substitution - Missense
c.722C>T; p.T241I; 7:37222673-37222673	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.536C>T; p.A179V; 7:37233108-37233108	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.479C>T; p.T160M; 7:37233165-37233165	pancreas	carcinoma	Substitution - Missense
c.175T>G; p.F59V; 7:37314867-37314867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1595C>T; p.P532L; 7:36894860-36894860	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.932C>A; p.T311N; 7:37213357-37213357	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.79-2A>T; p.?; 7:37315962-37315962	lung	carcinoma; adenocarcinoma	Unknown
c.1304G>A; p.S435N; 7:37013432-37013432	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.478A>G; p.T160A; 7:37233166-37233166	bone	osteosarcoma	Substitution - Missense
c.404G>T; p.S135I; 7:37259190-37259190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1130G>A; p.G377E; 7:37133191-37133191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.41G>A; p.W14*; 7:37342650-37342650	skin	malignant_melanoma	Substitution - Nonsense
c.1061G>A; p.R354Q; 7:37211411-37211411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.242C>T; p.P81L; 7:37271833-37271833	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1790G>A; p.G597E; 7:36878042-36878042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1061G>A; p.R354Q; 7:37211411-37211411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1032C>T; p.S344S; 7:37211440-37211440	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.162C>T; p.A54A; 7:37314880-37314880	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1552C>T; p.R518C; 7:36894903-36894903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1552C>T; p.R518C; 7:36894903-36894903	stomach	adenocarcinoma	Substitution - Missense
c.1654C>T; p.R552C; 7:36887620-36887620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1552C>T; p.R518C; 7:36894903-36894903	breast	carcinoma	Substitution - Missense
c.1654C>T; p.R552C; 7:36887620-36887620	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1654C>T; p.R552C; 7:36887620-36887620	pancreas	carcinoma	Substitution - Missense
c.247C>T; p.Q83*; 7:37259347-37259347	breast	carcinoma	Substitution - Nonsense
c.45G>A; p.P15P; 7:37342646-37342646	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.45G>A; p.P15P; 7:37342646-37342646	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.588G>A; p.S196S; 7:37224992-37224992	skin	malignant_melanoma	Substitution - coding silent
c.1809C>T; p.S603S; 7:36878023-36878023	skin	malignant_melanoma	Substitution - coding silent
c.92C>G; p.S31C; 7:37315947-37315947	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1081T>C; p.F361L; 7:37211391-37211391	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1875G>A; p.M625I; 7:36870423-36870423	skin	malignant_melanoma	Substitution - Missense
c.1381C>T; p.Q461*; 7:37013355-37013355	skin	malignant_melanoma	Substitution - Nonsense
c.2176T>C; p.C726R; 7:36855559-36855559	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.156G>C; p.Q52H; 7:37314886-37314886	breast	carcinoma	Substitution - Missense
c.2041C>T; p.L681L; 7:36855694-36855694	liver	carcinoma	Substitution - coding silent
c.1421C>T; p.S474F; 7:37013315-37013315	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.851G>A; p.R284Q; 7:37213438-37213438	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1421C>T; p.S474F; 7:37013315-37013315	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1402A>C; p.K468Q; 7:37013334-37013334	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.783G>A; p.E261E; 7:37216693-37216693	skin	malignant_melanoma	Substitution - coding silent
c.1402A>C; p.K468Q; 7:37013334-37013334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.334C>T; p.R112W; 7:37259260-37259260	prostate	carcinoma	Substitution - Missense
c.553G>A; p.A185T; 7:37225027-37225027	prostate	carcinoma	Substitution - Missense
c.1241G>A; p.G414D; 7:37096678-37096678	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.488T>A; p.V163D; 7:37233156-37233156	urinary_tract; bladder	carcinoma	Substitution - Missense
c.136C>A; p.H46N; 7:37314906-37314906	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.76C>A; p.Q26K; 7:37342615-37342615	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.669C>A; p.I223I; 7:37224911-37224911	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.231A>G; p.L77L; 7:37271844-37271844	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.76C>A; p.Q26K; 7:37342615-37342615	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1816G>A; p.D606N; 7:36878016-36878016	skin	malignant_melanoma	Substitution - Missense
c.226C>T; p.R76*; 7:37271849-37271849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.362T>A; p.I121K; 7:37259232-37259232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.873G>A; p.A291A; 7:37213416-37213416	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1189C>T; p.R397W; 7:37133132-37133132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.953A>G; p.Q318R; 7:37213336-37213336	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.604T>C; p.L202L; 7:37224976-37224976	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.983G>A; p.R328Q; 7:37211489-37211489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.983G>A; p.R328Q; 7:37211489-37211489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.935A>C; p.K312T; 7:37213354-37213354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.935A>C; p.K312T; 7:37213354-37213354	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1898A>T; p.Q633L; 7:36870400-36870400	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.G125S; 7:37259221-37259221	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1188C>T; p.I396I; 7:37133133-37133133	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.196C>T; p.R66C; 7:37271879-37271879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.G125S; 7:37259221-37259221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.G125S; 7:37259221-37259221	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.694delC; p.L232fs*15; 7:37224886-37224886	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1711C>A; p.Q571K; 7:36887563-36887563	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1445A>T; p.Q482L; 7:36895010-36895010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1437+9G>T; p.?; 7:37013290-37013290	pancreas	carcinoma	Unknown
c.189A>T; p.E63D; 7:37314853-37314853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.21C>T; p.I7I; 7:37342670-37342670	skin	malignant_melanoma	Substitution - coding silent
c.21C>T; p.I7I; 7:37342670-37342670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1344C>T; p.H448H; 7:37013392-37013392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1344C>T; p.H448H; 7:37013392-37013392	stomach	adenocarcinoma	Substitution - coding silent
c.850C>T; p.R284W; 7:37213439-37213439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2045C>T; p.T682M; 7:36855690-36855690	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.147T>C; p.F49F; 7:37314895-37314895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2047C>A; p.R683R; 7:36855688-36855688	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1601+9C>T; p.?; 7:36894845-36894845	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1846G>A; p.V616M; 7:36870452-36870452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1846G>A; p.V616M; 7:36870452-36870452	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.469T>C; p.F157L; 7:37233175-37233175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1846G>A; p.V616M; 7:36870452-36870452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1144G>A; p.D382N; 7:37133177-37133177	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1846G>A; p.V616M; 7:36870452-36870452	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1329G>A; p.P443P; 7:37013407-37013407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.480G>A; p.T160T; 7:37233164-37233164	thyroid	other; neoplasm	Substitution - coding silent
c.1551C>T; p.I517I; 7:36894904-36894904	breast	carcinoma	Substitution - coding silent
c.982C>T; p.R328*; 7:37211490-37211490	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.759G>A; p.K253K; 7:37222636-37222636	skin	malignant_melanoma	Substitution - coding silent
c.982C>T; p.R328*; 7:37211490-37211490	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1141C>A; p.L381M; 7:37133180-37133180	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.84_85insA; p.P29fs*11; 7:37315954-37315955	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Insertion - Frameshift
c.1776A>G; p.E592E; 7:36878056-36878056	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1766G>A; p.G589E; 7:36878066-36878066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.48C>T; p.G16G; 7:37342643-37342643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.763C>T; p.P255S; 7:37222632-37222632	skin	malignant_melanoma	Substitution - Missense
c.1766G>A; p.G589E; 7:36878066-36878066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.335G>A; p.R112Q; 7:37259259-37259259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.913C>T; p.L305L; 7:37213376-37213376	skin	malignant_melanoma	Substitution - coding silent
c.125C>A; p.S42Y; 7:37314917-37314917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1560C>T; p.S520S; 7:36894895-36894895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2089C>T; p.R697C; 7:36855646-36855646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.330C>T; p.L110L; 7:37259264-37259264	skin	malignant_melanoma	Substitution - coding silent
c.842G>A; p.R281Q; 7:37213447-37213447	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1131G>A; p.G377G; 7:37133190-37133190	skin	malignant_melanoma	Substitution - coding silent
c.496A>G; p.M166V; 7:37233148-37233148	oesophagus	carcinoma	Substitution - Missense
c.842G>A; p.R281Q; 7:37213447-37213447	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.658G>T; p.A220S; 7:37224922-37224922	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7C>T; p.P3S; 7:37342684-37342684	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.728C>A; p.T243N; 7:37222667-37222667	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2022G>A; p.G674G; 7:36855713-36855713	skin	malignant_melanoma	Substitution - coding silent
c.780G>A; p.Q260Q; 7:37222615-37222615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.728C>A; p.T243N; 7:37222667-37222667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1853C>T; p.T618M; 7:36870445-36870445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.415C>T; p.R139*; 7:37244390-37244390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.619T>C; p.S207P; 7:37224961-37224961	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1592G>A; p.R531H; 7:36894863-36894863	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1891C>A; p.L631I; 7:36870407-36870407	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.106G>A; p.E36K; 7:37315933-37315933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.395T>C; p.M132T; 7:37259199-37259199	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1906G>A; p.E636K; 7:36861736-36861736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955-6C>G; p.?; 7:37211523-37211523	pancreas	carcinoma	Unknown
c.769G>T; p.E257*; 7:37222626-37222626	breast	carcinoma	Substitution - Nonsense
c.139G>A; p.E47K; 7:37314903-37314903	skin; mucosal	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]