The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Aortic insufficiency

    Request ID: 1-2

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.Cys166Ser	c.496T>A	5	166	EGF-like#03	Disulfide bonds 154-166 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 307 AUS01NAD F0011 I29 Female Heterozygous AUSTRALIA NA 114
p.Gln176SerfsX14	c.526delC	5	176	EGF-like#03		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 492 FRA01BOU F0147 I0186 Female Heterozygous FRANCE NA 64
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
	c.IVS6-1G>A (c.737-1G>A)	6-7	246	cb EGF-like #01	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 195 FRA01BOU F0120 I0158 Male Heterozygous FRANCE NA 64
p.Thr326ProfsX4	c.976delA	8	326	cb EGF-like #02		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 549 USA04NOR F0012 I3524 Female Heterozygous U.S.A NA 102
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 484 FRA01BOU F0169 I0208 Male Heterozygous FRANCE NA 64
p.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 597 GER03HAN F0011 I02 Male Heterozygous GERMANY NA 107
p.Val449Ile	c.1345G>A	11	449	EGF-like #04	N-Term MMPs site	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 600 GER03HAN F0013 I03 Male Heterozygous GERMANY NA 107
p.Arg485Cys	c.1453C>T	11	485	EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1807 NET04NIJ F0001 I0001 Male Homozygous NETHERLAND NA 158
p.Arg516X	c.1546C>T	12	516	cb EGF-like #03		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 657 FRA01BOU F0166 I0205 Female Heterozygous FRANCE NA 64
p.Thr524AsnfsX9	c.1570dup	12	524	cb EGF-like #03		Small rearrangement	Fr.	Stop at 532	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 638 FRA01BOU F0172 I0211 Female Heterozygous FRANCE NA 64
p.Arg529Gln	c.1586G>A	12	529	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3354 ITA01FLO F0110 I0001 Male Heterozygous ITALIA NA 282
p.Ile531_Asp2055del	c.1589_6163del	12-13	530	cb EGF-like #04	Ca2+ binding	Large rearrangement Deletion from exon 13 to 49	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1881 UKD08SOU F0001 I0001 Female Heterozygous U.K. NA 168
p.Tyr635SerfsX78	c.1904_1919del	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Fr.	Stop at 712	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 599 GER03HAN F0012 I05 Female Heterozygous GERMANY NA 107
p.Arg636Gly	c.1906A>G	15	636	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3355 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282
p.Met657AlafsX23	c.1969_1970delAT	16	657	TGFBP#02		Small rearrangement	Fr.	Stop at 679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 504 FRA01BOU F0148 I0187 Male Heterozygous FRANCE NA 64
p.Ala686Asp	c.2057C>A	16	686	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 626 FRA01BOU F0170 I0209 Male Heterozygous FRANCE NA 64
p.Asp765Asn	c.2293G>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 3088 UKD09SAL F0009 I0001 NA Heterozygous U.K. NA 242
	c.IVS18-1G>A (c.2294-1G>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 316 AUS01NAD F0014 I13 Female Heterozygous AUSTRALIA NA 71
	c.IVS18-1G>C (c.2294-1G>C)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 190 AUS01NAD F0005 I01 Female Heterozygous AUSTRALIA NA 114
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.Cys816Ser	c.2447G>C	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 105 AUS01NAD F0006 I01 Male Heterozygous AUSTRALIA NA 114
p.Ile858HisfsX2	c.2570dup	21	857	Hybrid motif #02		Small rearrangement	Fr.	Stop at 859	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 297 JAP03OSA F0003 I0001 Male Heterozygous JAPAN NA 55
p.Cys875Arg	c.2623T>C	21	875	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 496 FRA01BOU F0134 I0173 Male Heterozygous FRANCE NA 64
p.Cys890Arg	c.2668T>C	21	890	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 124 FIN01HEL F0017 I01 Male Heterozygous FINLAND NA 45
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.Cys1008Arg	c.3022T>C	24	1008	TGFBP#03	C in disulfide bonds 982-1008	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1660 CHI03JIN F0001 I0001 Female Heterozygous CHINA NA 152
p.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 44 USA01BAL F0018 I01 Female Heterozygous U.S.A NA 21 331 GER01BER F0003 I15 Female Heterozygous GERMANY NA 80 426 CHI01HKO F0001 I0001 Male Heterozygous CHINA NA 94
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.Lys1023Asn	c.3069G>C	24	1023			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18 FIN01HEL F0004 I01 Male Heterozygous FINLAND NA 10
p.Asp1028Val	c.3083A>T	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 427 CHI01HKO F0002 I0001 Male Heterozygous CHINA NA 94
p.Ile1048del	c.3142_3144delATT	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 67 USA05HOU F0007 I251 NA Heterozygous U.S.A NA 26
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 78 FIN01HEL F0015 I01 Male Heterozygous FINLAND NA 33 620 USA10NYO F0001 I0001 Female Heterozygous U.S.A NA 105
p.Cys1053Arg	c.3157T>C	25	1053	cb EGF-like #11	Disulfide bonds 1039-1053 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 66 USA05HOU F0008 I92 Female Heterozygous U.S.A NA 26
p.Gly1058_Phe1059insCys	c.3175insTGC	25	1059	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 33 USA05HOU F0001 I01 NA Heterozygous U.S.A Type V d 15
p.Glu1065LysfsX23	c.3192delA	25	1064	cb EGF-like #11		Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 82 USA02OMA F0005 I554 NA Heterozygous U.S.A NA 35
p.Pro1068Arg	c.[3203C>G; 3204A>G]	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Ts/Tv	T->C/C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1181 AUS02WES F0062 I01 Female Heterozygous AUSTRALIA NA 139
p.Asp1070His	c.3208G>C	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2132 TAI02TAI F0001 I0001 Female Heterozygous TAIWAN NA 195
p.Asp1070Gly	c.3209A>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 355 FRA01BOU F0189 I0228 Male Heterozygous FRANCE NA 64
	c.IVS25+5G>T (c.3208+5G>T)	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 19 FIN01HEL F0005 I01 Female Heterozygous FINLAND NA 10
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 69 USA05HOU F0010 I269 Female Heterozygous U.S.A NA 26
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.Cys1117Tyr	c.3350G>A	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 28 USA03STA F0002 I783 Female Heterozygous U.S.A Type IV d 12
p.Gly1127Ser	c.3379G>A	27	1127	cb EGF-like #13	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 361 USA03STA F0063 I01 Female Heterozygous U.S.A NA 78
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 661 FRA01BOU F0217 I0256 Male Heterozygous FRANCE NA 64
	c.IVS27-1G>A (c.3464-1G>A)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 502 FRA01BOU F0126 I0164 Female Heterozygous FRANCE NA 64
p.Ile1175Thr	c.3524T>C	28	1175	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 147 UKD03DUN F0005 I01 Male Heterozygous U.K. NA 70
p.Cys1180Arg	c.3538T>C	28	1180	cb EGF-like #14	Disulfide bonds 1166-1180 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 650 FRA01BOU F0187 I0226 Male Heterozygous FRANCE NA 64
p.Tyr1261Cys	c.3782A>G	30	1261	cb EGF-like #16	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 201 GER03HAN F0007 I01 Male Heterozygous GERMANY NA 66
	c.IVS30-1G>T (c.3839-1G>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 USA03STA F0006 I1121 NA Heterozygous U.S.A Type IV 28
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.Pro1453ArgfsX22	c.4356delT	35	1452	cb EGF-like #21		Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 495 FRA01BOU F0152 I0191 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.Cys1610Gly	c.4828T>G	39	1610	cb EGF-like #23	Disulfide bonds 1610-1622 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 116 UKD01EDI F0011 I01 Female Heterozygous U.K. NA 41
p.Cys1652Tyr	c.4955G>A	40	1652	cb EGF-like #24	Disulfide bonds 1652-1663 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 263 JAP03OSA F0004 I0001 Male Heterozygous JAPAN NA 55
p.Tyr1699Cys	c.5096A>G	41	1699	TGFBP#05		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2151 FRA02PAR F0008 I0001 NA Heterozygous SWITZERLAND NA 200
p.Cys1721Gly	c.5161T>G	41	1721	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3170 JAP04KOB F0001 I0001 Female Heterozygous JAPAN NA 245
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.Pro1837Ser	c.5509C>T	44	1837	cb EGF-like #26		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 80 USA05HOU F0014 I18 Male Heterozygous U.S.A NA 34
p.Gln1854X	c.5560C>T	45	1854	cb EGF-like #27		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 486 FRA01BOU F0128 I0166 Male Heterozygous FRANCE NA 64
p.Asn1893Lys	c.5679T>A	46	1893	cb EGF-like #28	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 117 UKD01EDI F0012 I01 Male Heterozygous U.K. NA 41
p.Cys1916Ser	c.5746T>A	46	1916	cb EGF-like #28	Disulfide bonds 1916-1928 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 514 FRA01BOU F0119 I0157 Male Heterozygous FRANCE NA 64
	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 552 USA04NOR F0019 I3459 Male Heterozygous U.S.A NA 102
p.Gly1987Arg	c.5959G>C	48	1987	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 366 UKD05LON F0003 I14 Male Heterozygous U.K. NA 83
p.Gln2054Pro	c.6161A>C	49	2054	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 293 JAP03OSA F0005 I0001 Male Heterozygous JAPAN NA 55
p.Cys2099Trp	c.6297C>G	50	2099	TGFBP#06	C in disulfide bonds 2084-2099	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 118 UKD01EDI F0013 I01 Male Heterozygous U.K. NA 41
p.Asp2127Tyr	c.6379G>T	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 264 JAP03OSA F0006 I0001 Male Heterozygous JAPAN NA 55
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.Cys2153Tyr	c.6458G>A	52	2153	cb EGF-like #32	Disulfide bonds 2153-2164 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 637 FRA01BOU F0222 I0261 Male Heterozygous FRANCE NA 64
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 351 JAP03OSA F0007 I0001 Male Heterozygous JAPAN NA 55
p.Cys2221Arg	c.6661T>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 265 JAP03OSA F0008 I0001 Male Heterozygous JAPAN NA 55
p.Cys2251Arg	c.6751T>C	55	2251	cb EGF-like #35	Disulfide bonds 2251-2265 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 607 GER03HAN F0019 I13 Female Heterozygous GERMANY NA 107
p.Cys2258Arg	c.6772T>C	55	2258	cb EGF-like #35	Disulfide bonds 2258-2274 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 120 UKD01EDI F0015 I01 Female Heterozygous U.K. NA 41
p.Tyr2272Cys	c.6815A>G	55	2272	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 643 FRA01BOU F0228 I0267 Male Heterozygous FRANCE NA 64
p.Cys2307Arg	c.6919T>C	56	2307	cb EGF-like#36	Disulfide bonds 2295-2307 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 356 FRA01BOU F0144 I0183 Female Heterozygous FRANCE NA 64
	c.IVS56+1G>A (c.6997+1G>A)	56-57	2333	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 94 USA03STA F0009 I749 NA Heterozygous U.S.A Type IV 28
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.Gly2514X	c.7540G>T	60	2514	cb EGF-like #39	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 624 FRA01BOU F0203 I0242 Male Heterozygous FRANCE NA 64
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
p.Gly2586Trp	c.7756G>T	62	2586	cb EGF-like #41	Domain-domain packing	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 652 FRA01BOU F0186 I0225 Female Heterozygous FRANCE NA 64
p.Gln2598ProfsX10	c.7790dup	62	2597	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2607	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 298 JAP03OSA F0009 I0001 Male Heterozygous JAPAN NA 55
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3356 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282
p.Trp2756X	c.8268G>A	65	2756	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 FIN01HEL F0002 I01 Male Heterozygous FINLAND NA 9
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
p.Glu2846ArgfsX5	c.8534dup	65	2845	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2850	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 659 FRA01BOU F0200 I0239 Male Heterozygous FRANCE NA 64
p.Tyr2849X	c.8547T>G	65	2849	FibuCTDIII-like motif		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2848 CHI08BEI F0002 I0001 Male Heterozygous CHINA NA 217
p.Gln2867X	c.8599C>T	65	2867	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 498 FRA01BOU F0176 I0215 Male Heterozygous FRANCE NA 64 654 FRA01BOU F0220 I0259 Female Heterozygous FRANCE NA 64