Entrez Gene

Basic Information
Gene ID	7056
Name	THBD

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.849C>T; p.S283S; 20:23048656-23048656	pancreas	carcinoma	Substitution - coding silent
c.1166T>C; p.V389A; 20:23048339-23048339	skin; leg	malignant_melanoma	Substitution - Missense
c.1449C>A; p.G483G; 20:23048056-23048056	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.220C>T; p.L74L; 20:23049285-23049285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1127A>G; p.Y376C; 20:23048378-23048378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.370C>T; p.R124W; 20:23049135-23049135	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1183G>A; p.A395T; 20:23048322-23048322	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.610T>C; p.F204L; 20:23048895-23048895	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1081G>A; p.E361K; 20:23048424-23048424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.376G>A; p.D126N; 20:23049129-23049129	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1093C>A; p.P365T; 20:23048412-23048412	breast	carcinoma	Substitution - Missense
c.1374C>T; p.L458L; 20:23048131-23048131	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447G>A; p.G483S; 20:23048058-23048058	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>A; p.G483S; 20:23048058-23048058	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1664C>T; p.A555V; 20:23047841-23047841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1664C>T; p.A555V; 20:23047841-23047841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1664C>T; p.A555V; 20:23047841-23047841	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.930C>T; p.C310C; 20:23048575-23048575	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.598C>T; p.R200C; 20:23048907-23048907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1080C>T; p.G360G; 20:23048425-23048425	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.765G>A; p.A255A; 20:23048740-23048740	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.765G>A; p.A255A; 20:23048740-23048740	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.765G>A; p.A255A; 20:23048740-23048740	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1662C>T; p.C554C; 20:23047843-23047843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1662C>T; p.C554C; 20:23047843-23047843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1662C>T; p.C554C; 20:23047843-23047843	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1662C>T; p.C554C; 20:23047843-23047843	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1662C>T; p.C554C; 20:23047843-23047843	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1662C>T; p.C554C; 20:23047843-23047843	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.371G>T; p.R124L; 20:23049134-23049134	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1402C>T; p.P468S; 20:23048103-23048103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.517G>A; p.A173T; 20:23048988-23048988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.517G>A; p.A173T; 20:23048988-23048988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.517G>A; p.A173T; 20:23048988-23048988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1203G>A; p.P401P; 20:23048302-23048302	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203G>A; p.P401P; 20:23048302-23048302	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203G>A; p.P401P; 20:23048302-23048302	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.452C>T; p.P151L; 20:23049053-23049053	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1004C>T; p.P335L; 20:23048501-23048501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.855G>A; p.T285T; 20:23048650-23048650	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.855G>A; p.T285T; 20:23048650-23048650	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.855G>A; p.T285T; 20:23048650-23048650	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1452G>T; p.K484N; 20:23048053-23048053	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.872T>C; p.L291P; 20:23048633-23048633	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.391C>T; p.P131S; 20:23049114-23049114	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.947T>C; p.L316P; 20:23048558-23048558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>A; p.D301N; 20:23048604-23048604	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1632C>T; p.G544G; 20:23047873-23047873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.515C>T; p.P172L; 20:23048990-23048990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1311C>T; p.F437F; 20:23048194-23048194	skin	malignant_melanoma	Substitution - coding silent
c.228C>A; p.N76K; 20:23049277-23049277	pancreas	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 20:23049444-23049444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182C>T; p.T61I; 20:23049323-23049323	skin	malignant_melanoma	Substitution - Missense
c.1077C>T; p.D359D; 20:23048428-23048428	skin	malignant_melanoma	Substitution - coding silent
c.1343G>A; p.G448D; 20:23048162-23048162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1005G>A; p.P335P; 20:23048500-23048500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1362G>A; p.V454V; 20:23048143-23048143	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.385G>T; p.G129W; 20:23049120-23049120	pancreas	carcinoma	Substitution - Missense
c.1302C>A; p.D434E; 20:23048203-23048203	skin	malignant_melanoma	Substitution - Missense
c.933G>T; p.E311D; 20:23048572-23048572	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1109delT; p.F370fs*12; 20:23048396-23048396	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1498A>G; p.T500A; 20:23048007-23048007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1275T>A; p.C425*; 20:23048230-23048230	large_intestine; colon	carcinoma	Substitution - Nonsense
c.912C>T; p.G304G; 20:23048593-23048593	skin	malignant_melanoma	Substitution - coding silent
c.1565C>T; p.S522F; 20:23047940-23047940	skin	malignant_melanoma	Substitution - Missense
c.1434C>T; p.T478T; 20:23048071-23048071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.129G>C; p.A43A; 20:23049376-23049376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.507C>A; p.F169L; 20:23048998-23048998	thyroid	other; neoplasm	Substitution - Missense
c.577T>C; p.Y193H; 20:23048928-23048928	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.577T>A; p.Y193N; 20:23048928-23048928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1470C>T; p.S490S; 20:23048035-23048035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.342_343delCA; p.D114fs*6; 20:23049162-23049163	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.239G>A; p.G80D; 20:23049266-23049266	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.681G>A; p.P227P; 20:23048824-23048824	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.453G>A; p.P151P; 20:23049052-23049052	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.934A>G; p.T312A; 20:23048571-23048571	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.934A>G; p.T312A; 20:23048571-23048571	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.840C>T; p.C280C; 20:23048665-23048665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1079G>A; p.G360D; 20:23048426-23048426	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.888C>T; p.C296C; 20:23048617-23048617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1721G>A; p.R574K; 20:23047784-23047784	urinary_tract; bladder	carcinoma	Substitution - Missense
c.128C>T; p.A43V; 20:23049377-23049377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1181T>C; p.F394S; 20:23048324-23048324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.852G>A; p.A284A; 20:23048653-23048653	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.852G>A; p.A284A; 20:23048653-23048653	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1410G>A; p.S470S; 20:23048095-23048095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185G>A; p.A395A; 20:23048320-23048320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.772G>A; p.A258T; 20:23048733-23048733	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.68C>T; p.P23L; 20:23049437-23049437	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	liver	carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	thyroid	other; neoplasm	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.447C>G; p.S149R; 20:23049058-23049058	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1344C>T; p.G448G; 20:23048161-23048161	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

The somatic mutations from COSMIC database