The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Asc. aortic dissection

    Request ID: 1-6

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu30X	c.88G>T	1	30	NH2 unique region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1914 UKD07WIL F0091 I0001 Male Heterozygous U.K. NA 178
p.Pro56HisfsX45	c.165_247del	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Large rearrangement Deletion from exon 2 to 2	Fr.	Stop at 100	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 556 BEL01GHE F0016 I2089 Male Heterozygous BELGIUM NA 89
	c.IVS1-1G>A (c.165-1G>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 609 GER03HAN F0021 I01 Female Heterozygous GERMANY NA 107
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 287 UKD04OXF F0001 I01 NA Heterozygous U.K. Type I or II ? 58 527 USA05HOU F0015 I01 Male Heterozygous U.S.A Type II 99 578 USA03STA F0066 I1075 NA Heterozygous U.S.A NA 104 1916 UKD07WIL F0092 I0001 Male Heterozygous U.K. NA 157
p.Cys89Phe	c.266G>T	3	89	EGF-like #01	Disulfide bonds 89-100 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 402 BEL01GHE F0037 I1941 Male Heterozygous BELGIUM NA 89
p.Cys136Ser	c.406T>A	4	136	EGF-like #02	Disulfide bonds 136-145 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1482 ITA01FLO F0012 I01 NA Heterozygous ITALIA NA 146
p.Cys160Gly	c.478T>G	5	160	EGF-like#03	Disulfide bonds 150-160 (C3)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 480 FRA01BOU F0106 I0144 Female Heterozygous FRANCE NA 64
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1485 ITA01FLO F0015 I01 NA Heterozygous ITALIA NA 146
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 294 JAP03OSA F0001 I0001 Male Heterozygous JAPAN NA 55
p.Tyr320X	c.959dup	8	320	cb EGF-like #02		Small rearrangement	Fr.	Stop at 320	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 432 BEL01GHE F0059 I2203 Male Heterozygous BELGIUM NA 89
p.Glu383Lys	c.1147G>A	9-10	383	TGFBP#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 430 BEL01GHE F0057 I2164 Male Heterozygous BELGIUM NA 89
p.Cys460LeufsX16	c.1378dup	11	460	EGF-like #04	Disulfide bonds 460-474 (C2)	Small rearrangement	Fr.	Stop at 475	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 306 AUS01NAD F0012 I34 Male Heterozygous AUSTRALIA NA 114
p.Cys474Trp	c.1422T>G	11	474	EGF-like #04	Disulfide bonds 460-474 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 364 UKD05LON F0001 I07 Male Heterozygous U.K. NA 83
p.Cys515Trp	c.1545C>G	12	515	cb EGF-like #03	Disulfide bonds 515-528 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2817 USA05HOU F0024 I0001 Female Heterozygous MEXICO NA 194
p.Arg516Gly	c.1546C>G	12	516	cb EGF-like #03		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2818 USA05HOU F0024 I0001 Female Heterozygous MEXICO NA 194
p.Arg529X	c.1585C>T	12	529	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 209 USA01BAL F0030 I01 Male Heterozygous U.S.A Type II or IV ? 60
p.Asn548Ile	c.1643A>T	13	548	cb EGF-like #04	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6 USA01BAL F0007 I09 Male Heterozygous U.S.A Type IV 4
p.Asp654Asn	c.1960G>A	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 451 GER01BER F0028 I26 Female Heterozygous GERMANY NA 95
p.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2855 POR01POR F0001 I0005 Male Heterozygous PORTUGAL NA 220
	c.IVS16-2A>G (c.2114-2A>G)	16-17	705	TGFBP#02		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1731 UKD07WIL F0015 I0001 Male Heterozygous U.K. NA 157
p.Cys769Arg	c.2305T>C	19	769	cb EGF-like #08	Disulfide bonds 769-781 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1732 UKD07WIL F0016 I0001 Female Heterozygous U.K. NA 157
p.Ser813X	c.2438C>G	20	813	cb EGF-like #09		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 295 JAP03OSA F0002 I0001 Female Heterozygous JAPAN NA 55
p.Gly819Glu	c.2456G>A	20	819	cb EGF-like #09	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1891 FRA03MON F0231 I0001 Male Heterozygous FRANCE NA 191
p.Arg861X	c.2581C>T	21	861	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 462 GER01BER F0040 I60 Male Heterozygous GERMANY NA 95
p.Gly880Ser	c.2638G>A	21	880	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1505 ITA01FLO F0033 I01 NA Heterozygous ITALIA NA 146
p.Val984Ile	c.2950G>A	24	984	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 150 GER02MUN F0001 I01 Male Heterozygous GERMANY NA 32
p.Gly985Glu	c.2954G>A	24	985	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 160 FRA01BOU F0115 I0153 Male Heterozygous FRANCE NA 62
p.Gly989ValfsX10	c.2966delG	24	989	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 634 FRA01BOU F0229 I0268 Male Heterozygous FRANCE NA 64
p.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 44 USA01BAL F0018 I01 Female Heterozygous U.S.A NA 21
p.Ala1015Pro	c.3043G>C	24	1015	TGFBP#03		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2868 POR01POR F0005 I0001 Male Heterozygous PORTUGAL NA 224
p.Leu1080SerfsX8	c.3238delC	26	1080	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 500 FRA01BOU F0159 I0198 Female Heterozygous FRANCE NA 64
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 714 FRA01BOU F0273 I0312 Male Heterozygous FRANCE NA 145
p.Arg1119IlefsX42	c.3355_3358delAGAG	27	1119	cb EGF-like #13		Small rearrangement	Fr.	Stop at 1160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 583 USA03STA F0071 I1103 NA Heterozygous U.S.A Type II 104
p.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1 USA01BAL F0001 I01 NA Heterozygous U.S.A Type IV 1
p.Cys1171Trp	c.3513C>G	28	1171	cb EGF-like #14	Disulfide bonds 1159-1171 (C3)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 113 UKD01EDI F0008 I01 Male Heterozygous U.K. NA 41
p.Asn1256IlefsX20	c.3767delA	30	1256	cb EGF-like #16	Ca2+ binding	Small rearrangement	Fr.	Stop at 1275	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 585 USA03STA F0073 I1439 NA Heterozygous U.S.A NA 104
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 631 FRA01BOU F0171 I0210 Male Heterozygous FRANCE NA 64
p.Asn1332ThrfsX82	c.3993_3994dup	32	1332	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1413	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 647 FRA01BOU F0262 I0301 Male Heterozygous FRANCE NA 64
p.Cys1361Tyr	c.4082G>A	32	1361	cb EGF-like #18	Disulfide bonds 1350-1361 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 276 USA03STA F0057 I24 NA Heterozygous U.S.A Type IV d 57
p.Cys1402Trp	c.4206T>G	33	1402	cb EGF-like #19	Disulfide bonds 1391-1402 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 277 USA03STA F0058 I23 NA Heterozygous U.S.A Type IV 57
p.Cys1470Arg	c.4408T>C	35	1470	cb EGF-like #21	Disulfide bonds 1456-1470 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 508 FRA01BOU F0218 I0257 Female Heterozygous FRANCE NA 64
p.Arg1523X	c.4567C>T	36	1523	cb EGF-like #22		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 494 FRA01BOU F0127 I0165 Female Heterozygous FRANCE NA 64
p.Arg1530Cys	c.4588C>T	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2131 USA05HOU F0023 I0001 Male Heterozygous MEXICO NA 194
p.Arg1539X	c.4615C>T	37	1539	TGFBP#04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 338 GER01BER F0013 I27 Male Heterozygous GERMANY NA 80
p.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 588 USA03STA F0076 I186 NA Heterozygous U.S.A Type II 104
p.Cys1721Tyr	c.5162G>A	41	1721	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 148 UKD03DUN F0006 I01 Female Heterozygous U.K. NA 70
p.Cys1748Arg	c.5242T>C	42	1748	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3206 USA05HOU F0025 I0001 Male Heterozygous U.S.A. NA 255
p.Cys1770Phe	c.5309G>T	43	1770	cb EGF-like #25	Disulfide bonds 1770-1782 (C1)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 310 AUS01NAD F0021 I25 Female Heterozygous AUSTRALIA NA 114
p.Arg1771GlyfsX122	c.5311delC	43	1771	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 205 GER03HAN F0003 I01 Female Heterozygous GERMANY NA 66
p.Cys1782Arg	c.5344T>C	43	1782	cb EGF-like #25	Disulfide bonds 1770-1782 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 511 FRA01BOU F0143 I0182 Male Heterozygous FRANCE NA 64
p.Cys1791Tyr	c.5372G>A	43	1791	cb EGF-like #25	Disulfide bonds 1777-1791 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 378 BEL01GHE F0015 I2163 Male Heterozygous BELGIUM NA 89
p.Cys1833Ser	c.5498G>C	44	1833	cb EGF-like #26	Disulfide bonds 1818-1833 (C4)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 202 GER03HAN F0006 I01 Male Heterozygous GERMANY NA 66
p.Cys1835Tyr	c.5504G>A	44	1835	cb EGF-like #26	Disulfide bonds 1835-1847 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 406 BEL01GHE F0041 I1506 Male Heterozygous BELGIUM NA 89
p.Gly1919Asp	c.5756G>A	46	1919	cb EGF-like #28	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 605 GER03HAN F0017 I11 Female Heterozygous GERMANY NA 107
p.Cys1928Ser	c.5783G>C	46	1928	cb EGF-like #28	Disulfide bonds 1916-1928 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2037 NET04NIJ F0002 I0001 Male Heterozygous NETHERLAND NA 184
	c.IVS46+5G>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 606 GER03HAN F0018 I12 Female Heterozygous GERMANY NA 107
p.Arg1997X	c.5989A>T	48	1997	cb EGF-like #30	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 144 UKD03DUN F0008 I01 Female Heterozygous U.K. NA 70
p.Gln2007LysfsX52	c.6018delT	48	2006	cb EGF-like #30		Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 206 GER03HAN F0002 I01 Female Heterozygous GERMANY NA 66
p.Cys2111Tyr	c.6332G>A	51	2111	TGFBP#06	C in disulfide bonds 2085-2111	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 119 UKD01EDI F0014 I01 Male Heterozygous U.K. NA 41
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1542 ITA01FLO F0070 I01 NA Heterozygous ITALIA NA 146
p.Cys2137_Lys2138dup	c.6409_6411dup	52	2138	cb EGF-like #32		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 513 FRA01BOU F0150 I0189 Female Heterozygous FRANCE NA 64
p.Cys2142Tyr	c.6425G>A	52	2142	cb EGF-like #32	Disulfide bonds 2131-2142 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 203 GER03HAN F0005 I01 Male Heterozygous GERMANY NA 66
p.Asn2144Ser	c.6431A>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 1668 JAP07TOK F0001 I0001 Female Heterozygous JAPAN NA 151
p.Cys2153Tyr	c.6458G>A	52	2153	cb EGF-like #32	Disulfide bonds 2153-2164 (C5)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 367 UKD05LON F0004 I08 Male Heterozygous U.K. NA 83 637 FRA01BOU F0222 I0261 Male Heterozygous FRANCE NA 64
p.Cys2221Arg	c.6661T>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 271 USA03STA F0062 I15 NA Heterozygous U.S.A Type IV 57 1546 ITA01FLO F0074 I01 NA Heterozygous ITALIA NA 146
p.Cys2221Gly	c.6661T>G	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 471 GER01BER F0050 I37 Female Heterozygous GERMANY NA 95
p.Ile2269Thr	c.6806T>C	55	2269	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1548 ITA01FLO F0076 I01 NA Heterozygous ITALIA NA 146
p.Arg2282Trp	c.6844C>T	55	2282	cb EGF-like #35		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 132 BEL01GHE F0008 I01 Male Heterozygous BELGIUM NA 89
p.Asp2291Asn	c.6871G>A	55-56	2291	cb EGF-like#36	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2125 ITA01FLO F0098 I0001 Male Heterozygous ITALIA NA 192
p.Cys2302X	c.6906T>A	56	2302	cb EGF-like#36	Disulfide bonds 2302-2316 (C2)	Small rearrangement	Tv	T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2861 POR01POR F0002 I0002 Male Heterozygous PORTUGAL NA 224 2863 POR01POR F0002 I0004 Female Heterozygous PORTUGAL NA 224
p.Cys2307Ser	c.6920G>C	56	2307	cb EGF-like#36	Disulfide bonds 2295-2307 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5 USA01BAL F0006 I01 Female Heterozygous U.S.A Type IV d 3
p.Gly2372Val	c.7115G>T	57	2372	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1913 USA05HOU F0018 I0001 Male Heterozygous U.S.A. NA 180
p.Arg2394X	c.7180C>T	57	2394	TGFBP #07		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 283 UKD04OXF F0008 I08 NA Heterozygous U.K. Type I or II ? 58
p.Asp2402GlyfsX68	c.7205_8051del	57-58	2402	cb EGF-like #37	Ca2+ binding	Large rearrangement Deletion from exon 58 to 63	Fr.	Stop at 2469	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2139 GER03HAN F0095 I0001 Female Heterozygous GERMANY NA 111
p.Arg2414X	c.7240C>T	58	2414	cb EGF-like #37		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 593 USA03STA F0082 I938 NA Heterozygous U.S.A Type II 104
p.Tyr2474Cys	c.7421A>G	59	2474	cb EGF-like #38	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 542 USA04NOR F0009 I1129 NA Heterozygous U.S.A NA 101
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 3114 UKD09SAL F0035 I0001 NA Heterozygous U.K. NA 242
p.Arg2576Cys	c.7726C>T	62	2576	cb EGF-like #41		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3194 USA20SAN F0001 I0001 Female Homozygous MEXICO NA 252
p.Ile2585Thr	c.7754T>C	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 509 FRA01BOU F0138 I0177 Female Heterozygous FRANCE NA 64
	c.IVS62+5G>A (c.7819+5G>A)	62-63	2607	cb EGF-like #42	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1556 ITA01FLO F0082 I01 NA Heterozygous ITALIA NA 146
p.Lys2630ThrfsX53	c.7885_7886dup	63	2629	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2682	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1557 ITA01FLO F0083 I01 NA Heterozygous ITALIA NA 146
p.Cys2633Arg	c.7897T>C	63	2633	cb EGF-like #42	Disulfide bonds 2633-2646 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3333 CAN03HAM F0001 I0001 Male Heterozygous CANADA NA 276
p.Tyr2639Asn	c.7915T>A	63	2639	cb EGF-like #42		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 379 BEL01GHE F0010 I0833 Male Heterozygous BELGIUM NA 89
p.Cys2663Ser	c.7988G>C	63	2663	cb EGF-like #43	Disulfide bonds 2652-2663 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1126 JAP06HIR F0003 I0001 NA Heterozygous JAPAN NA 119
p.Gly2669Val	c.8006G>T	63	2669	cb EGF-like #43	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 669 FRA01BOU F0175 I0214 Male Heterozygous FRANCE NA 145
p.Lys2774X	c.8320A>T	65	2774	FibuCTDIII-like motif		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1561 ITA01FLO F0087 I01 NA Heterozygous ITALIA NA 146
p.Arg2776X	c.8326C>T	65	2776	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 38 UKD01EDI F0003 I58 Female Heterozygous U.K. NA 19