Entrez Gene

Basic Information
Gene ID	3248
Name	HPGD

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.462A>G; p.S154S; 4:174495584-174495584	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.442C>A; p.Q148K; 4:174495604-174495604	ovary	other; neoplasm	Substitution - Missense
c.222T>G; p.T74T; 4:174518073-174518073	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.494C>T; p.A165V; 4:174495552-174495552	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.275C>A; p.A92D; 4:174518020-174518020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.60C>G; p.A20A; 4:174522392-174522392	prostate	carcinoma	Substitution - coding silent
c.402C>T; p.I134I; 4:174508715-174508715	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.748G>A; p.G250R; 4:174492009-174492009	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.672G>A; p.L224L; 4:174492085-174492085	skin	malignant_melanoma	Substitution - coding silent
c.526G>A; p.V176M; 4:174493287-174493287	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.157T>G; p.F53V; 4:174522004-174522004	skin	malignant_melanoma	Substitution - Missense
c.156G>A; p.Q52Q; 4:174522005-174522005	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.207A>G; p.Q69Q; 4:174521954-174521954	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.156G>C; p.Q52H; 4:174522005-174522005	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.706G>C; p.D236H; 4:174492051-174492051	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.283A>T; p.N95Y; 4:174518012-174518012	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.743C>A; p.S248Y; 4:174492014-174492014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.497C>T; p.A166V; 4:174495549-174495549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.788C>G; p.A263G; 4:174491969-174491969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.512T>G; p.L171R; 4:174493301-174493301	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.498+1G>A; p.?; 4:174495547-174495547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.625C>A; p.H209N; 4:174493188-174493188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.493G>T; p.A165S; 4:174495553-174495553	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>T; p.G240C; 4:174492039-174492039	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.498G>T; p.A166A; 4:174495548-174495548	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.746A>G; p.K249R; 4:174492011-174492011	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.645A>G; p.K215K; 4:174493168-174493168	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.682G>A; p.G228R; 4:174492075-174492075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.94-1G>T; p.?; 4:174522068-174522068	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.391G>A; p.G131S; 4:174508726-174508726	urinary_tract; bladder	carcinoma	Substitution - Missense
c.694C>T; p.L232F; 4:174492063-174492063	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.487C>T; p.R163C; 4:174495559-174495559	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense

The somatic mutations from COSMIC database