Entrez Gene

Basic Information
Gene ID	112399
Name	EGLN3

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.102C>T; p.F34F; 14:33950651-33950651	skin	malignant_melanoma	Substitution - coding silent
c.443G>A; p.C148Y; 14:33931130-33931130	urinary_tract; bladder	carcinoma	Substitution - Missense
c.159C>T; p.T53T; 14:33950594-33950594	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.510G>A; p.E170E; 14:33929180-33929180	skin	malignant_melanoma	Substitution - coding silent
c.607G>A; p.A203T; 14:33929083-33929083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.431G>A; p.R144H; 14:33931142-33931142	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.401G>C; p.R134P; 14:33931172-33931172	oesophagus	carcinoma	Substitution - Missense
c.568T>A; p.S190T; 14:33929122-33929122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.469G>T; p.D157Y; 14:33931104-33931104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.606C>T; p.Y202Y; 14:33929084-33929084	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.497G>A; p.R166Q; 14:33929193-33929193	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.615-1G>T; p.?; 14:33927034-33927034	lung	carcinoma; adenocarcinoma	Unknown
c.380G>A; p.G127E; 14:33931193-33931193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.48G>T; p.L16L; 14:33950705-33950705	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.589G>A; p.E197K; 14:33929101-33929101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.638T>G; p.F213C; 14:33927010-33927010	kidney	other; neoplasm	Substitution - Missense
c.119G>A; p.G40D; 14:33950634-33950634	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.574C>T; p.R192C; 14:33929116-33929116	skin	malignant_melanoma	Substitution - Missense
c.574C>T; p.R192C; 14:33929116-33929116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.478C>T; p.L160L; 14:33929212-33929212	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.130C>A; p.L44M; 14:33950623-33950623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.402C>G; p.R134R; 14:33931171-33931171	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.341T>C; p.V114A; 14:33950412-33950412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.264C>T; p.C88C; 14:33950489-33950489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.303G>T; p.L101L; 14:33950450-33950450	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.165C>T; p.A55A; 14:33950588-33950588	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.258_259GG>TT; p.E86_G87>DC; 14:33950494-33950495	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.669G>T; p.K223N; 14:33926979-33926979	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.367G>T; p.A123S; 14:33931206-33931206	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.45C>T; p.A15A; 14:33950708-33950708	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.92T>C; p.L31P; 14:33950661-33950661	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.481C>T; p.H161Y; 14:33929209-33929209	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.594G>A; p.V198V; 14:33929096-33929096	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.302T>C; p.L101P; 14:33950451-33950451	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.172G>A; p.D58N; 14:33950581-33950581	skin	malignant_melanoma	Substitution - Missense
c.357+4G>A; p.?; 14:33950392-33950392	kidney	other; neoplasm	Unknown
c.565T>A; p.W189R; 14:33929125-33929125	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.173A>T; p.D58V; 14:33950580-33950580	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588C>G; p.H196Q; 14:33929102-33929102	liver	carcinoma	Substitution - Missense

The somatic mutations from COSMIC database