The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Dilation or dissection of asc. aorta

    Request ID: 1-13

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu11TrpfsX7	c.31delC	1	11	Signal peptide		Small rearrangement	Fr.	Stop at 17	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 755 BEL01GHE F0080 I01 NA Heterozygous BELGIUM NA 121
	c.IVS1+1G>A (c.164+1G>A)	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 887 UKD05LON F0095 I01 NA Heterozygous U.K. NA 96
p.Gly127Asp	c.380G>A	4	127	EGF-like #02	conserved AA in EGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1364 UKD05LON F0128 I01 NA Heterozygous U.K. NA 96
p.Pro185HisfsX5	c.554delC	6	185	Hybrid module#01		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 818 UKD05LON F0026 I01 NA Heterozygous U.K. NA 96
p.Gln207ArgfsX123	c.620delA	6	207	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 819 UKD05LON F0027 I01 NA Heterozygous U.K. NA 96
p.Gly214Ser	c.640G>A	6	214	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 820 UKD05LON F0028 I01 NA Heterozygous U.K. NA 96
p.Arg215X	c.643C>T	6	215	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 756 BEL01GHE F0081 I01 NA Heterozygous BELGIUM NA 121
p.Gln284X	c.850C>T	7	284	cb EGF-like #01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1365 UKD05LON F0129 I01 NA Heterozygous U.K. NA 96
	c.IVS8-1G>C (c.989-1G>C)	8-9	330	TGFBP#01	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 757 BEL01GHE F0082 I01 NA Heterozygous BELGIUM NA 121
p.Gln351X	c.1051C>T	9	351	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1366 UKD05LON F0130 I01 NA Heterozygous U.K. NA 96
p.Cys359Tyr	c.1076G>A	9	359	TGFBP#01	C in disulfide bonds 359-377	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 758 BEL01GHE F0083 I01 NA Heterozygous BELGIUM NA 121
p.Arg364X	c.1090C>T	9	364	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1367 UKD05LON F0131 I01 NA Heterozygous U.K. NA 96
p.Cys365Arg	c.1093T>C	9	365	TGFBP#01	C in disulfide bonds 345-365	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 823 UKD05LON F0031 I01 NA Heterozygous U.K. NA 96
p.Trp366X	c.1097G>A	9	366	TGFBP#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 825 UKD05LON F0033 I01 NA Heterozygous U.K. NA 96
p.Glu375ArgfsX20	c.1122delT	9	374	TGFBP#01		Small rearrangement	Fr.	Stop at 394	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 826 UKD05LON F0034 I01 NA Heterozygous U.K. NA 96
	c.IVS9-2A>G (c.1148-2A>G)	9-10	383	TGFBP#01		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1368 UKD05LON F0132 I01 NA Heterozygous U.K. NA 96
p.Cys488Phe	c.1463G>T	11	488	EGF-like #04	Disulfide bonds 476-488 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 759 BEL01GHE F0084 I01 NA Heterozygous BELGIUM NA 121
	c.IVS11+5G>A (c.1468+5G>A)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1432 UKD05LON F0195 I01 NA Heterozygous U.K. NA 96
p.Cys504Arg	c.1510T>C	12	504	cb EGF-like #03	Disulfide bonds 494-504 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 827 UKD05LON F0035 I01 NA Heterozygous U.K. NA 96
p.Tyr519Cys	c.1556A>G	12	519	cb EGF-like #03	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 760 BEL01GHE F0085 I01 NA Heterozygous BELGIUM NA 121
p.Cys546Trp	c.1638C>G	13	546	cb EGF-like #04	Disulfide bonds 534-546 (C3)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 370 UKD05LON F0007 I10 NA Heterozygous U.K. NA 96
p.Arg565X	c.1693C>T	13	565	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1369 UKD05LON F0133 I01 NA Heterozygous U.K. NA 96
	c.IVS13+2T>C (c.1714+2T>C)	13-14	572	cb EGF-like #05	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1158 UKD05LON F0120 I01 NA Heterozygous U.K. NA 96
	c.IVS14+1G>A (c.1837+1G>A)	14-15	613	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 761 BEL01GHE F0086 I01 NA Heterozygous BELGIUM NA 121
	c.IVS14-1G>A (c.1838-1G>A)	14-15	613	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 762 BEL01GHE F0087 I01 NA Heterozygous BELGIUM NA 121
p.Cys652Tyr	c.1955G>A	15	652	cb EGF-like #06	Disulfide bonds 639-652 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1370 UKD05LON F0134 I01 NA Heterozygous U.K. NA 96
p.Val653X	c.1957_1958delGT	15	653	cb EGF-like #06		Small rearrangement	Fr.	Stop at 653	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1157 UKD05LON F0122 I01 NA Heterozygous U.K. NA 96
p.Arg658AlafsX23	c.1971dup	16	658	TGFBP#02		Small rearrangement	Fr.	Stop at 680	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1152 UKD05LON F0115 I01 NA Heterozygous U.K. NA 96
p.Cys685Trp	c.2055C>G	16	685	TGFBP#02	C in disulfide bonds 685-711	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 763 BEL01GHE F0088 I01 NA Heterozygous BELGIUM NA 121
p.Cys727Tyr	c.2180G>A	18	727	cb EGF-like #07	Disulfide bonds 727-739 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 828 UKD05LON F0036 I01 NA Heterozygous U.K. NA 96
p.Ser752X	c.2255C>A	18	752	cb EGF-like #07		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 829 UKD05LON F0037 I01 NA Heterozygous U.K. NA 96
	c.IVS18+1G>A (c.2293+1G>A)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 889 UKD05LON F0097 I01 NA Heterozygous U.K. NA 96
p.Cys811Trp	c.2433C>G	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 764 BEL01GHE F0089 I01 NA Heterozygous BELGIUM NA 121
p.Phe828Cys	c.2483T>G	20	828	cb EGF-like #09	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1141 UKD05LON F0104 I01 NA Heterozygous U.K. NA 96
p.Trp854X	c.2562G>A	21	854	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 765 BEL01GHE F0090 I01 NA Heterozygous BELGIUM NA 121
p.Arg861X	c.2581C>T	21	861	Hybrid motif #02		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 830 UKD05LON F0038 I01 NA Heterozygous U.K. NA 96 831 UKD05LON F0039 I01 NA Heterozygous U.K. NA 96
p.Ala882Val	c.2645C>T	21	882	Hybrid motif #02		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 766 BEL01GHE F0091 I01 NA Heterozygous BELGIUM NA 121 1373 UKD05LON F0137 I01 NA Heterozygous U.K. NA 96
p.Pro886ArgfsX26	c.2657delC	21	886	Hybrid motif #02		Small rearrangement	Fr.	Stop at 911	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 832 UKD05LON F0040 I01 NA Heterozygous U.K. NA 96
p.Arg954Cys	c.2860C>T	24	954	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 833 UKD05LON F0041 I01 NA Heterozygous U.K. NA 96
p.Arg974Cys	c.2920C>T	24	974	TGFBP#03		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 835 UKD05LON F0043 I01 NA Heterozygous U.K. NA 96
p.Glu994X	c.2980G>T	24	994	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1145 UKD05LON F0108 I01 NA Heterozygous U.K. NA 96
p.Cys1032Tyr	c.3095G>A	25	1032	cb EGF-like #11	Disulfide bonds 1032-1044 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 973 UKD05LON F0102 I01 NA Heterozygous U.K. NA 96
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1177 UKD05LON F0123 I01 NA Heterozygous U.K. NA 96
p.Gly1049AlafsX39	c.3146delG	25	1049	cb EGF-like #11	Domain-domain packing	Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1377 UKD05LON F0140 I01 NA Heterozygous U.K. NA 96
	c.IVS25-2A>G (c.3209-2A>G)	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1378 UKD05LON F0141 I01 NA Heterozygous U.K. NA 96
p.Glu1073Lys	c.3217G>A	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 767 BEL01GHE F0092 I01 NA Heterozygous BELGIUM NA 121
p.Asn1088Ile	c.3263A>T	26	1088	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 838 UKD05LON F0046 I01 NA Heterozygous U.K. NA 96
p.Gly1100Val	c.3299G>T	26	1100	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 768 BEL01GHE F0093 I01 NA Heterozygous BELGIUM NA 121
p.Arg1125X	c.3373C>T	27	1125	cb EGF-like #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1380 UKD05LON F0143 I01 NA Heterozygous U.K. NA 96
p.His1130IlefsX32	c.3388delC	27	1130	cb EGF-like #13	Ca2+ binding	Small rearrangement	Fr.	Stop at 1161	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 771 BEL01GHE F0096 I01 NA Heterozygous BELGIUM NA 121
p.Cys1140X	c.3420C>A	27	1140	cb EGF-like #13	Disulfide bonds 1140-1153 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 839 UKD05LON F0047 I01 NA Heterozygous U.K. NA 96
p.Glu1158Gly	c.3473A>G	28	1158	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 840 UKD05LON F0048 I01 NA Heterozygous U.K. NA 96
p.Ser1188PhefsX5	c.3562dup	28	1188	cb EGF-like #14		Small rearrangement	Fr.	Stop at 1192	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 772 BEL01GHE F0097 I01 NA Heterozygous BELGIUM NA 121
p.Cys1223Arg	c.3667T>C	29	1223	cb EGF-like #15	Disulfide bonds 1223-1236 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1143 UKD05LON F0106 I01 NA Heterozygous U.K. NA 96
p.Cys1249Arg	c.3745T>C	30	1249	cb EGF-like #16	Disulfide bonds 1249-1263 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 841 UKD05LON F0049 I01 NA Heterozygous U.K. NA 96
p.Asn1298_Pro1299insThrAsn	c.3895insACAAAC	31	1299	cb EGF-like #17	Ca2+ binding	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1714 UKD05LON F0021 I0001 NA Heterozygous U.K. NA 96
p.Cys1307Tyr	c.3920G>A	31	1307	cb EGF-like #17	Disulfide bonds 1307-1320 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1384 UKD05LON F0147 I01 NA Heterozygous U.K. NA 96
p.Thr1321Thr	c.3963A>G	31	1321	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1715 UKD05LON F0053 I0001 NA Heterozygous U.K. NA 96
p.Cys1326Arg	c.3976T>C	32	1326	cb EGF-like #18	Disulfide bonds 1326-1339 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1179 UKD05LON F0125 I01 NA Heterozygous U.K. NA 96
p.Glu1366Lys	c.4096G>A	33	1366	cb EGF-like #19	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1386 UKD05LON F0149 I01 NA Heterozygous U.K. NA 96
	c.IVS33+1G>T (c.4210+1G>T)	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1155 UKD05LON F0118 I01 NA Heterozygous U.K. NA 96
p.Asp1406Gly	c.4217A>G	34	1406	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1387 UKD05LON F0150 I01 NA Heterozygous U.K. NA 96
p.Pro1424Ala	c.4270C>G	34	1424	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1389 UKD05LON F0152 I01 NA Heterozygous U.K. NA 96
p.Tyr1427Asp	c.4279T>G	34	1427	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 842 UKD05LON F0050 I01 NA Heterozygous U.K. NA 96
	c.IVS34-1G>C (c.4337-1G>C)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1391 UKD05LON F0154 I01 NA Heterozygous U.K. NA 96
p.Cys1485Arg	c.4453T>C	35	1485	cb EGF-like #21	Disulfide bonds 1472-1485 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1392 UKD05LON F0155 I01 NA Heterozygous U.K. NA 96
p.Leu1492TrpfsX28	c.4474delC	36	1492	cb EGF-like #22		Small rearrangement	Fr.	Stop at 1519	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 773 BEL01GHE F0098 I01 NA Heterozygous BELGIUM NA 121
	c.IVS36+5G>C (c.4582+5G>C)	36-37	1528	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1393 UKD05LON F0156 I01 NA Heterozygous U.K. NA 96
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 774 BEL01GHE F0100 I01 NA Heterozygous BELGIUM NA 121 1433 UKD05LON F0196 I01 NA Heterozygous U.K. NA 96
p.Cys1622Arg	c.4864T>C	39	1622	cb EGF-like #23	Disulfide bonds 1610-1622 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 846 UKD05LON F0054 I01 NA Heterozygous U.K. NA 96
p.Cys1720Tyr	c.5159G>A	41	1720	TGFBP#05	C in disulfide bonds 1720-1736	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 850 UKD05LON F0058 I01 NA Heterozygous U.K. NA 96
p.Cys1782SerfsX110	c.5343_5346delGTGT	43	1781	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1891	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 851 UKD05LON F0059 I01 NA Heterozygous U.K. NA 96
p.Cys1793Tyr	c.5378G>A	43	1793	cb EGF-like #25	Disulfide bonds 1793-1806 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 852 UKD05LON F0060 I01 NA Heterozygous U.K. NA 96
p.Gly1796Val	c.5387G>T	43	1796	cb EGF-like #25	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 374 UKD05LON F0011 I09 NA Heterozygous U.K. NA 96
p.Cys1806Ser	c.5417G>C	43	1806	cb EGF-like #25	Disulfide bonds 1793-1806 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 854 UKD05LON F0062 I01 NA Heterozygous U.K. NA 96
	c.IVS43-1G>A (c.5423-1G>A)	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1397 UKD05LON F0160 I01 NA Heterozygous U.K. NA 96
p.Glu1811Lys	c.5431G>A	44	1811	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 375 UKD05LON F0012 I17 NA Heterozygous U.K. NA 96
p.Cys1812Tyr	c.5435G>A	44	1812	cb EGF-like #26	Disulfide bonds 1812-1824 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 855 UKD05LON F0063 I01 NA Heterozygous U.K. NA 96
p.Ser1830Cys	c.5488A>T	44	1830	cb EGF-like #26	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1398 UKD05LON F0161 I01 NA Heterozygous U.K. NA 96
p.Cys1835Phe	c.5504G>T	44	1835	cb EGF-like #26	Disulfide bonds 1835-1847 (C5)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 856 UKD05LON F0064 I01 NA Heterozygous U.K. NA 96
p.Asn1907ThrfsX23	c.5718delG	46	1906	cb EGF-like #28	Ca2+ binding	Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 858 UKD05LON F0066 I01 NA Heterozygous U.K. NA 96
p.Gly1937X	c.5809G>T	47	1937	cb EGF-like #29		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 775 BEL01GHE F0101 I01 NA Heterozygous BELGIUM NA 121
p.Cys2053X	c.6159C>A	49	2053	cb EGF-like #31	Disulfide bonds 2040-2053 (C6)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1403 UKD05LON F0166 I01 NA Heterozygous U.K. NA 96
p.Ser2075_Asn2077del	c.6223_6231del	50	2075	TGFBP#06	C-Term MMPs site	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 862 UKD05LON F0070 I01 NA Heterozygous U.K. NA 96
p.Gly2093GlufsX67	c.6278delG	50	2093	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2159	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 863 UKD05LON F0071 I01 NA Heterozygous U.K. NA 96
p.Glu2105Lys	c.6313G>A	50-51	2105	TGFBP#06		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1405 UKD05LON F0168 I01 NA Heterozygous U.K. NA 96
	c.IVS50+1G>T (c.6313+1G>T)	50-51	2105	TGFBP#06		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1406 UKD05LON F0169 I01 NA Heterozygous U.K. NA 96
	c.IVS50-3C>G (c.6314-3C>G)	50-51	2105	TGFBP#06		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 892 UKD05LON F0101 I01 NA Heterozygous U.K. NA 96
p.Ile2118Met	c.6354C>G	51	2118	TGFBP#06		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 864 UKD05LON F0072 I01 NA Heterozygous U.K. NA 96
p.Asp2127Glu	c.6381T>A	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 865 UKD05LON F0073 I01 NA Heterozygous U.K. NA 96
p.Val2136Asp	c.6407T>A	52	2136	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1407 UKD05LON F0170 I01 NA Heterozygous U.K. NA 96
p.Asn2144Asp	c.6430A>G	52	2144	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1408 UKD05LON F0171 I01 NA Heterozygous U.K. NA 96
p.Thr2145Pro	c.6433A>C	52	2145	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 866 UKD05LON F0074 I01 NA Heterozygous U.K. NA 96
p.Asn2183ArgfsX3	c.6548_6558del	53	2183	cb EGF-like #33	Ca2+ binding	Small rearrangement	Fr.	Stop at 2185	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 867 UKD05LON F0075 I01 NA Heterozygous U.K. NA 96
p.Ile2185Thr	c.6554T>C	53	2185	cb EGF-like #33	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1410 UKD05LON F0173 I01 NA Heterozygous U.K. NA 96
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 868 UKD05LON F0076 I01 NA Heterozygous U.K. NA 96
p.Thr2224Pro	c.6670A>C	54	2224	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 869 UKD05LON F0077 I01 NA Heterozygous U.K. NA 96
p.Glu2229X	c.6685G>T	54	2229	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1140 UKD05LON F0103 I01 NA Heterozygous U.K. NA 96
p.Asp2241ThrfsX50	c.6721delG	54	2241	cb EGF-like #34		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 871 UKD05LON F0079 I01 NA Heterozygous U.K. NA 96
p.Arg2242ValfsX49	c.6724delC	54	2242	cb EGF-like #34		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 872 UKD05LON F0080 I01 NA Heterozygous U.K. NA 96
p.Met2273Thr	c.6818T>C	55	2273	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1156 UKD05LON F0119 I01 NA Heterozygous U.K. NA 96
p.Cys2274Trp	c.6822C>G	55	2274	cb EGF-like #35	Disulfide bonds 2258-2274 (C4)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1414 UKD05LON F0177 I01 NA Heterozygous U.K. NA 96
p.Cys2302Tyr	c.6905G>A	56	2302	cb EGF-like#36	Disulfide bonds 2302-2316 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 873 UKD05LON F0081 I01 NA Heterozygous U.K. NA 96
p.Met2347ValfsX19	c.7039_7040delAT	57	2347	TGFBP #07		Small rearrangement	Fr.	Stop at 2365	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1416 UKD05LON F0179 I01 NA Heterozygous U.K. NA 96
p.Cys2365Tyr	c.7094G>A	57	2365	TGFBP #07	C in disulfide bonds 2365-2390	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 874 UKD05LON F0082 I01 NA Heterozygous U.K. NA 96
p.Cys2390SerfsX15	c.7167_7168delCT	57	2389	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2404	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 875 UKD05LON F0083 I01 NA Heterozygous U.K. NA 96
	c.IVS58-3T>G (c.7331-3T>G)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1417 UKD05LON F0180 I01 NA Heterozygous U.K. NA 96
p.Glu2447Lys	c.7339G>A	59	2447	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 877 UKD05LON F0085 I01 NA Heterozygous U.K. NA 96
p.Cys2470Trp	c.7410C>G	59	2470	cb EGF-like #38	Disulfide bonds 2470-2483 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1418 UKD05LON F0181 I01 NA Heterozygous U.K. NA 96
p.Cys2489Gly	c.7465T>G	60	2489	cb EGF-like #39	Disulfide bonds 2489-2500 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 777 BEL01GHE F0104 I01 NA Heterozygous BELGIUM NA 121
p.Thr2516Ile	c.7547C>T	60	2516	cb EGF-like #39		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1146 UKD05LON F0109 I01 NA Heterozygous U.K. NA 96
p.Thr2520Met	c.7559C>T	60	2520	cb EGF-like #39		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1420 UKD05LON F0183 I01 NA Heterozygous U.K. NA 96
p.Gly2536Arg	c.7606G>A	61	2536	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1422 UKD05LON F0185 I01 NA Heterozygous U.K. NA 96
p.Cys2541Phe	c.7622G>T	61	2541	cb EGF-like #40	Disulfide bonds 2528-2541 (C3)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1423 UKD05LON F0186 I01 NA Heterozygous U.K. NA 96
p.Gln2542X	c.7624C>T	61	2542	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 880 UKD05LON F0088 I01 NA Heterozygous U.K. NA 96
p.Arg2554Trp	c.7660C>T	61	2554	cb EGF-like #40		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 881 UKD05LON F0089 I01 NA Heterozygous U.K. NA 96
p.Cys2571X	c.7713T>A	62	2571	cb EGF-like #41	Disulfide bonds 2571-2581 (C1)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1425 UKD05LON F0188 I01 NA Heterozygous U.K. NA 96
p.Ile2585Thr	c.7754T>C	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 882 UKD05LON F0090 I01 NA Heterozygous U.K. NA 96 883 UKD05LON F0091 I01 NA Heterozygous U.K. NA 96
p.Gln2598SerfsX84	c.7792delC	62	2598	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 885 UKD05LON F0093 I01 NA Heterozygous U.K. NA 96
p.Glu2610Lys	c.7828G>A	63	2610	cb EGF-like #42	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1427 UKD05LON F0190 I01 NA Heterozygous U.K. NA 96 1428 UKD05LON F0191 I01 NA Heterozygous U.K. NA 96
p.Lys2840GlufsX4	c.8516dup	65	2839	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2843	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 778 BEL01GHE F0105 I01 NA Heterozygous BELGIUM NA 121
p.Lys2840X	c.8518A>T	65	2840	FibuCTDIII-like motif		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1142 UKD05LON F0105 I01 NA Heterozygous U.K. NA 96