Entrez Gene

Basic Information
Gene ID	5744
Name	PTHLH

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.227C>T; p.S76L; 12:27963645-27963645	skin	malignant_melanoma	Substitution - Missense
c.423G>A; p.R141R; 12:27963449-27963449	skin	malignant_melanoma	Substitution - coding silent
c.69C>T; p.C23C; 12:27969426-27969426	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.389C>T; p.P130L; 12:27963483-27963483	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>T; p.R175W; 12:27963349-27963349	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.424C>T; p.R142*; 12:27963448-27963448	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.485T>C; p.L162P; 12:27963387-27963387	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.424C>T; p.R142*; 12:27963448-27963448	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.424C>T; p.R142*; 12:27963448-27963448	pancreas	carcinoma	Substitution - Nonsense
c.424C>T; p.R142*; 12:27963448-27963448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.193G>A; p.A65T; 12:27963679-27963679	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.352C>A; p.P118T; 12:27963520-27963520	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.505T>A; p.S169T; 12:27963367-27963367	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.221C>T; p.A74V; 12:27963651-27963651	breast	carcinoma	Substitution - Missense
c.272A>C; p.H91P; 12:27963600-27963600	breast	carcinoma	Substitution - Missense
c.177C>A; p.F59L; 12:27963695-27963695	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.393G>A; p.G131G; 12:27963479-27963479	skin	malignant_melanoma	Substitution - coding silent
c.393G>A; p.G131G; 12:27963479-27963479	skin	malignant_melanoma	Substitution - coding silent
c.327C>A; p.N109K; 12:27963545-27963545	thyroid	other; neoplasm	Substitution - Missense
c.431G>T; p.R144L; 12:27963441-27963441	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.521C>T; p.S174L; 12:27963351-27963351	breast	carcinoma	Substitution - Missense
c.414G>A; p.K138K; 12:27963458-27963458	skin	malignant_melanoma	Substitution - coding silent
c.166C>T; p.R56*; 12:27963706-27963706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.420delA; p.K140fs*9; 12:27963452-27963452	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.228G>A; p.S76S; 12:27963644-27963644	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.227C>A; p.S76*; 12:27963645-27963645	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.397C>T; p.R133C; 12:27963475-27963475	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.397C>T; p.R133C; 12:27963475-27963475	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.107G>C; p.R36T; 12:27963765-27963765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>T; p.P80L; 12:27963633-27963633	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.170G>A; p.R57Q; 12:27963702-27963702	skin	malignant_melanoma	Substitution - Missense
c.170G>A; p.R57Q; 12:27963702-27963702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506C>T; p.S169L; 12:27963366-27963366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.506C>T; p.S169L; 12:27963366-27963366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.506C>T; p.S169L; 12:27963366-27963366	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.267G>A; p.K89K; 12:27963605-27963605	skin	malignant_melanoma	Substitution - coding silent
c.36G>A; p.A12A; 12:27969459-27969459	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.410A>G; p.E137G; 12:27963462-27963462	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.503C>T; p.T168M; 12:27963369-27963369	liver	carcinoma	Substitution - Missense
c.503C>T; p.T168M; 12:27963369-27963369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.503C>T; p.T168M; 12:27963369-27963369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.503C>T; p.T168M; 12:27963369-27963369	liver	carcinoma	Substitution - Missense
c.211G>A; p.E71K; 12:27963661-27963661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.258C>A; p.P86P; 12:27963614-27963614	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.281G>T; p.R94L; 12:27963591-27963591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.281G>A; p.R94Q; 12:27963591-27963591	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.281G>A; p.R94Q; 12:27963591-27963591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.360G>A; p.K120K; 12:27963512-27963512	NS	malignant_melanoma	Substitution - coding silent
c.360G>A; p.K120K; 12:27963512-27963512	NS	malignant_melanoma	Substitution - coding silent
c.468G>C; p.G156G; 12:27963404-27963404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.469C>T; p.L157L; 12:27963403-27963403	skin	malignant_melanoma	Substitution - coding silent
c.339G>A; p.T113T; 12:27963533-27963533	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.124C>T; p.Q42*; 12:27963748-27963748	skin	malignant_melanoma	Substitution - Nonsense
c.229G>C; p.E77Q; 12:27963643-27963643	urinary_tract; bladder	carcinoma	Substitution - Missense
c.398G>A; p.R133H; 12:27963474-27963474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.30C>T; p.S10S; 12:27969465-27969465	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.513G>A; p.E171E; 12:27963359-27963359	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.430C>T; p.R144C; 12:27963442-27963442	skin	malignant_melanoma	Substitution - Missense
c.425G>A; p.R142Q; 12:27963447-27963447	skin; extremity	malignant_melanoma	Substitution - Missense
c.425G>A; p.R142Q; 12:27963447-27963447	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.406C>T; p.Q136*; 12:27963466-27963466	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense

The somatic mutations from COSMIC database