Entrez Gene

Basic Information
Gene ID	2192
Name	FBLN1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.2051delG; p.G684fs*>20; 22:45600385-45600385	large_intestine; colon	carcinoma	Deletion - Frameshift
c.1662C>T; p.F554F; 22:45550580-45550580	skin	malignant_melanoma	Substitution - coding silent
c.1104G>A; p.G368G; 22:45542192-45542192	skin	malignant_melanoma	Substitution - coding silent
c.998C>T; p.T333M; 22:45541304-45541304	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.149G>A; p.C50Y; 22:45518751-45518751	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1492T>C; p.C498R; 22:45548663-45548663	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.958C>T; p.P320S; 22:45541264-45541264	skin	malignant_melanoma	Substitution - Missense
c.178G>T; p.E60*; 22:45518780-45518780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1195_1195+1GG>AA; p.?; 22:45542283-45542284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1959C>T; p.D653D; 22:45577095-45577095	prostate	carcinoma	Substitution - coding silent
c.1990C>T; p.R664W; 22:45600324-45600324	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.344T>C; p.L115P; 22:45527869-45527869	skin	malignant_melanoma	Substitution - Missense
c.952C>T; p.P318S; 22:45541258-45541258	skin	malignant_melanoma	Substitution - Missense
c.1949G>A; p.R650H; 22:45577085-45577085	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.112G>A; p.A38T; 22:45518714-45518714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.112G>A; p.A38T; 22:45518714-45518714	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.379G>C; p.E127Q; 22:45527904-45527904	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1080C>T; p.C360C; 22:45542168-45542168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1679A>G; p.Y560C; 22:45550597-45550597	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1080C>T; p.C360C; 22:45542168-45542168	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1080C>T; p.C360C; 22:45542168-45542168	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.2011C>T; p.H671Y; 22:45600345-45600345	skin	malignant_melanoma	Substitution - Missense
c.1147G>A; p.E383K; 22:45542235-45542235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2080G>A; p.V694I; 22:45600414-45600414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.185+1G>A; p.?; 22:45518788-45518788	central_nervous_system; brain	glioma	Unknown
c.1241A>G; p.K414R; 22:45543446-45543446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.953C>A; p.P318Q; 22:45541259-45541259	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.286G>A; p.G96S; 22:45525643-45525643	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1337G>T; p.S446I; 22:45547100-45547100	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1685G>A; p.R562H; 22:45550603-45550603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.124C>T; p.R42W; 22:45518726-45518726	skin	malignant_melanoma	Substitution - Missense
c.2017G>A; p.V673I; 22:45600351-45600351	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1998C>T; p.I666I; 22:45600332-45600332	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2047delG; p.G684fs*>20; 22:45600381-45600381	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1818C>G; p.F606L; 22:45574631-45574631	skin	malignant_melanoma	Substitution - Missense
c.2065C>T; p.R689*; 22:45600399-45600399	skin	malignant_melanoma	Substitution - Nonsense
c.745G>A; p.G249R; 22:45533859-45533859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.626C>G; p.S209C; 22:45533144-45533144	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.941G>A; p.S314N; 22:45541247-45541247	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.358C>T; p.Q120*; 22:45527883-45527883	skin	malignant_melanoma	Substitution - Nonsense
c.963C>T; p.I321I; 22:45541269-45541269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1688C>T; p.S563F; 22:45550606-45550606	skin	malignant_melanoma	Substitution - Missense
c.1961G>A; p.G654D; 22:45577097-45577097	thyroid	carcinoma	Substitution - Missense
c.1659C>A; p.A553A; 22:45550577-45550577	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2047G>A; p.G683R; 22:45600381-45600381	central_nervous_system; brain	glioma	Substitution - Missense
c.1441+8C>T; p.?; 22:45547212-45547212	pancreas	carcinoma	Unknown
c.1562G>A; p.R521H; 22:45548733-45548733	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1562G>A; p.R521H; 22:45548733-45548733	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1562G>A; p.R521H; 22:45548733-45548733	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1136_1150del15; p.F380_C384delFRCEC; 22:45542224-45542238	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.950C>A; p.A317D; 22:45541256-45541256	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.732G>T; p.R244R; 22:45533846-45533846	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146C>T; p.C382C; 22:45542234-45542234	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.945C>T; p.I315I; 22:45541251-45541251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.523T>A; p.Y175N; 22:45531303-45531303	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1982G>A; p.R661H; 22:45600316-45600316	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1776C>T; p.P592P; 22:45574589-45574589	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2078A>G; p.N693S; 22:45600412-45600412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>T; p.Q122H; 22:45527891-45527891	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>T; p.Q122H; 22:45527891-45527891	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1203C>T; p.N401N; 22:45543408-45543408	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.921T>C; p.I307I; 22:45535336-45535336	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1753G>A; p.D585N; 22:45574566-45574566	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1753G>A; p.D585N; 22:45574566-45574566	skin	malignant_melanoma	Substitution - Missense
c.296C>A; p.A99D; 22:45525653-45525653	liver	carcinoma	Substitution - Missense
c.869C>A; p.P290H; 22:45535284-45535284	central_nervous_system; brain	glioma	Substitution - Missense
c.1822G>A; p.E608K; 22:45574635-45574635	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1822G>A; p.E608K; 22:45574635-45574635	skin	malignant_melanoma	Substitution - Missense
c.1114C>T; p.R372C; 22:45542202-45542202	skin	malignant_melanoma	Substitution - Missense
c.1855C>T; p.R619W; 22:45576991-45576991	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.683G>A; p.R228Q; 22:45533797-45533797	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1897A>G; p.I633V; 22:45577033-45577033	urinary_tract; bladder	carcinoma	Substitution - Missense
c.86C>T; p.A29V; 22:45518688-45518688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1291C>T; p.R431W; 22:45543496-45543496	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1291C>T; p.R431W; 22:45543496-45543496	large_intestine; colon	carcinoma	Substitution - Missense
c.1771G>A; p.D591N; 22:45574584-45574584	skin	malignant_melanoma	Substitution - Missense
c.721C>T; p.R241C; 22:45533835-45533835	skin	malignant_melanoma	Substitution - Missense
c.721C>T; p.R241C; 22:45533835-45533835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1366A>G; p.N456D; 22:45547129-45547129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1770C>G; p.F590L; 22:45574583-45574583	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1010A>G; p.N337S; 22:45541316-45541316	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1000T>A; p.C334S; 22:45541306-45541306	pancreas	carcinoma	Substitution - Missense
c.1959C>A; p.D653E; 22:45577095-45577095	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1010A>G; p.N337S; 22:45541316-45541316	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1093G>C; p.E365Q; 22:45542181-45542181	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.D276N; 22:45535241-45535241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.D276N; 22:45535241-45535241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.118G>A; p.G40R; 22:45518720-45518720	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.722G>A; p.R241H; 22:45533836-45533836	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.759G>T; p.E253D; 22:45533873-45533873	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.152C>T; p.S51L; 22:45518754-45518754	skin	malignant_melanoma	Substitution - Missense
c.807T>C; p.G269G; 22:45535222-45535222	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516C>T; p.Q506*; 22:45548687-45548687	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1782C>T; p.H594H; 22:45574595-45574595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2049G>T; p.G683G; 22:45600383-45600383	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.450C>T; p.T150T; 22:45527975-45527975	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2056G>T; p.V686F; 22:45600390-45600390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>A; p.E444K; 22:45547093-45547093	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>T; p.A672V; 22:45600349-45600349	skin	malignant_melanoma	Substitution - Missense
c.451G>A; p.G151R; 22:45527976-45527976	skin	malignant_melanoma	Substitution - Missense
c.1397G>A; p.R466Q; 22:45547160-45547160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1056G>A; p.T352T; 22:45541362-45541362	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1056G>A; p.T352T; 22:45541362-45541362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1739C>T; p.S580F; 22:45574552-45574552	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>A; p.R179S; 22:45531315-45531315	urinary_tract; bladder	carcinoma	Substitution - Missense
c.535C>A; p.R179S; 22:45531315-45531315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1721C>T; p.T574M; 22:45574534-45574534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.570C>T; p.C190C; 22:45533088-45533088	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.804T>C; p.S268S; 22:45535219-45535219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1832G>A; p.R611H; 22:45574645-45574645	thyroid	carcinoma	Substitution - Missense
c.1832G>A; p.R611H; 22:45574645-45574645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1008G>T; p.K336N; 22:45541314-45541314	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1755T>C; p.D585D; 22:45574568-45574568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.675C>T; p.H225H; 22:45533789-45533789	skin; arm	malignant_melanoma	Substitution - coding silent
c.143A>G; p.K48R; 22:45518745-45518745	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1204G>T; p.E402*; 22:45543409-45543409	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.606C>T; p.F202F; 22:45533124-45533124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.152C>G; p.S51W; 22:45518754-45518754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1246G>A; p.E416K; 22:45543451-45543451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1905C>A; p.D635E; 22:45577041-45577041	breast	carcinoma	Substitution - Missense
c.596G>T; p.C199F; 22:45533114-45533114	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.367G>A; p.G123S; 22:45527892-45527892	skin	malignant_melanoma	Substitution - Missense
c.1574A>G; p.D525G; 22:45550492-45550492	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.282C>T; p.P94P; 22:45525639-45525639	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1119C>T; p.C373C; 22:45542207-45542207	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1119C>T; p.C373C; 22:45542207-45542207	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1764C>T; p.C588C; 22:45574577-45574577	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.378C>T; p.C126C; 22:45527903-45527903	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1455C>T; p.C485C; 22:45548626-45548626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1455C>T; p.C485C; 22:45548626-45548626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.421C>T; p.Q141*; 22:45527946-45527946	skin	malignant_melanoma	Substitution - Nonsense
c.1821C>T; p.R607R; 22:45574634-45574634	lung	carcinoid-endocrine_tumour; typical	Substitution - coding silent
c.1430T>C; p.V477A; 22:45547193-45547193	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.466G>A; p.G156R; 22:45527991-45527991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database