Entrez Gene

Basic Information
Gene ID	2273
Name	FHL1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.613G>C; p.D205H; 23:136208566-136208566	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>A; p.D50N; 23:136206580-136206580	skin	malignant_melanoma	Substitution - Missense
c.730T>C; p.S244P; 23:136209912-136209912	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.730T>C; p.S244P; 23:136209912-136209912	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.341A>T; p.N114I; 23:136207801-136207801	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.564T>C; p.C188C; 23:136208517-136208517	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.65A>G; p.K22R; 23:136206497-136206497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.570C>A; p.T190T; 23:136208523-136208523	skin	malignant_melanoma	Substitution - coding silent
c.112A>T; p.N38Y; 23:136206544-136206544	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.444C>A; p.F148L; 23:136207904-136207904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.222C>A; p.P74P; 23:136207081-136207081	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.467C>T; p.T156I; 23:136207927-136207927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.453G>T; p.V151V; 23:136207913-136207913	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.549C>T; p.A183A; 23:136208502-136208502	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.32G>T; p.R11M; 23:136206464-136206464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.675G>T; p.K225N; 23:136208628-136208628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.563G>A; p.C188Y; 23:136208516-136208516	large_intestine; colon	carcinoma	Substitution - Missense
c.563G>A; p.C188Y; 23:136208516-136208516	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.503C>G; p.A168G; 23:136208456-136208456	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.165C>G; p.H55Q; 23:136207024-136207024	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.165C>G; p.H55Q; 23:136207024-136207024	urinary_tract; bladder	carcinoma	Substitution - Missense
c.837G>T; p.K279N; 23:136210019-136210019	pancreas	carcinoma	Substitution - Missense
c.837G>T; p.K279N; 23:136210019-136210019	pancreas	carcinoma	Substitution - Missense
c.515G>C; p.G172A; 23:136208468-136208468	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.765C>T; p.C255C; 23:136209947-136209947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.568A>G; p.T190A; 23:136208521-136208521	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.142G>T; p.G48C; 23:136206574-136206574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.199C>T; p.R67C; 23:136207058-136207058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.307G>A; p.G103R; 23:136207166-136207166	skin	malignant_melanoma	Substitution - Missense
c.97G>C; p.D33H; 23:136206529-136206529	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.232G>C; p.E78Q; 23:136207091-136207091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.227C>T; p.A76V; 23:136207086-136207086	bone	chondrosarcoma	Substitution - Missense
c.353A>T; p.K118M; 23:136207813-136207813	skin	malignant_melanoma	Substitution - Missense
c.141C>T; p.I47I; 23:136206573-136206573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.141C>T; p.I47I; 23:136206573-136206573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.400C>A; p.Q134K; 23:136207860-136207860	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.502-1G>A; p.?; 23:136208454-136208454	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Unknown
c.502-1G>A; p.?; 23:136208454-136208454	soft_tissue; striated_muscle	rhabdomyosarcoma	Unknown
c.689-8delC; p.?; 23:136209863-136209863	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.234G>T; p.E78D; 23:136207093-136207093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.384C>A; p.T128T; 23:136207844-136207844	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.130C>T; p.R44C; 23:136206562-136206562	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.147G>A; p.A49A; 23:136206579-136206579	breast	carcinoma	Substitution - coding silent
c.708T>C; p.S236S; 23:136209890-136209890	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.518G>A; p.G173E; 23:136208471-136208471	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.361G>A; p.V121I; 23:136207821-136207821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.359C>T; p.T120I; 23:136207819-136207819	skin	malignant_melanoma	Substitution - Missense
c.441C>A; p.D147E; 23:136207901-136207901	breast	carcinoma	Substitution - Missense
c.156+1G>A; p.?; 23:136206589-136206589	skin	malignant_melanoma	Unknown
c.293C>A; p.S98Y; 23:136207152-136207152	ovary	other; neoplasm	Substitution - Missense
c.569C>A; p.T190N; 23:136208522-136208522	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.468C>T; p.T156T; 23:136207928-136207928	skin	malignant_melanoma	Substitution - coding silent
c.468C>T; p.T156T; 23:136207928-136207928	skin	malignant_melanoma	Substitution - coding silent
c.543G>A; p.W181*; 23:136208496-136208496	bone; rib	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.6G>A; p.A2A; 23:136206438-136206438	skin	malignant_melanoma	Substitution - coding silent
c.503_504insCAT; p.I169_T170insI; 23:136208456-136208457	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.6G>A; p.A2A; 23:136206438-136206438	skin	malignant_melanoma	Substitution - coding silent
c.6G>A; p.A2A; 23:136206438-136206438	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.719A>G; p.Y240C; 23:136209901-136209901	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.156+5C>T; p.?; 23:136206593-136206593	liver	carcinoma	Unknown
c.400C>T; p.Q134*; 23:136207860-136207860	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.156+5C>T; p.?; 23:136206593-136206593	liver	carcinoma	Unknown
c.628G>A; p.V210M; 23:136208581-136208581	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.332-3C>T; p.?; 23:136207789-136207789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.715G>T; p.A239S; 23:136209897-136209897	prostate	carcinoma	Substitution - Missense
c.451G>A; p.V151M; 23:136207911-136207911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>A; p.M1I; 23:136206435-136206435	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.451G>A; p.V151M; 23:136207911-136207911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.142G>A; p.G48S; 23:136206574-136206574	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5C>T; p.A2V; 23:136206437-136206437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.93C>T; p.C31C; 23:136206525-136206525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.550G>A; p.D184N; 23:136208503-136208503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.757delA; p.K254fs*4; 23:136209939-136209939	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.550G>A; p.D184N; 23:136208503-136208503	breast	carcinoma	Substitution - Missense

The somatic mutations from COSMIC database