The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Arm span/height >1.05 (M)

    Request ID: 6-3

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu17X	c.50delT	1	17	Signal peptide		Small rearrangement	Fr.	Stop at 17	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 649 FRA01BOU F0213 I0252 Female Heterozygous FRANCE NA 64
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
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.Thr101Ala	c.301A>G	3	101	EGF-like #01		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 153 FRA01BOU F0114 I0152 Female Heterozygous FRANCE NA 64
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 85 UKD03DUN F0001 I01 Male Heterozygous U.K. NA 37 411 BEL01GHE F0046 I0916 Male Heterozygous BELGIUM NA 89 416 BEL01GHE F0051 I2903 Female Heterozygous BELGIUM NA 89
p.Cys123Tyr	c.368G>A	4	123	EGF-like #02	Disulfide bonds 123-134 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1481 ITA01FLO F0011 I01 NA Heterozygous ITALIA NA 146
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.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.Cys177Tyr	c.530G>A	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1484 ITA01FLO F0014 I01 NA Heterozygous ITALIA NA 146
p.Gln196X	c.586C>T	6	196	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1124 JAP06HIR F0001 I0001 NA Heterozygous JAPAN NA 119
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.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 1486 ITA01FLO F0016 I01 NA Heterozygous ITALIA NA 146
p.Arg240Cys	c.718C>T	6	240	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 133 BEL01GHE F0007 I01 Female Heterozygous BELGIUM NA 89
p.Arg240His	c.719G>A	6	240	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2038 NET04NIJ F0003 I0001 Female Heterozygous NETHERLAND NA 184
	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.Gln348X	c.1042C>T	9	348	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1487 ITA01FLO F0017 I01 NA Heterozygous ITALIA NA 146
p.Met356CysfsX39	c.1066delA	9	356	TGFBP#01	C in disulfide bonds 345-356	Small rearrangement	Fr.	Stop at 394	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1488 ITA01FLO F0018 I01 NA Heterozygous ITALIA NA 146
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.Thr371HisfsX5	c.1110insG	9	370	TGFBP#01		Small rearrangement	Fr.	Stop at 375	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2129 USA05HOU F0021 I0001 Male Heterozygous U.S.A. NA 193
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.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 FRA01BOU F0123 I0161 Female Heterozygous FRANCE NA 64 300 FRA01BOU F0165 I0204 Male Heterozygous FRANCE NA 64 1489 ITA01FLO F0019 I01 NA Heterozygous ITALIA NA 146
p.Tyr458Ser	c.1373A>C	11	458	EGF-like #04		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 182 FRA01BOU F0107 I0145 Male Heterozygous FRANCE NA 64
	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 2999 NET01AMS F0008 I0002 Male Heterozygous NETHERLAND NA 212
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 135 BEL01GHE F0005 I01 Male Heterozygous BELGIUM NA 89
p.Cys576Tyr	c.1727G>A	14	576	cb EGF-like #05	Disulfide bonds 576-587 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1498 ITA01FLO F0027 I01 NA Heterozygous ITALIA NA 146
p.Cys596Tyr	c.1787G>A	14	596	cb EGF-like #05	Disulfide bonds 582-596 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 450 GER01BER F0027 I01 Male Heterozygous GERMANY NA 95
p.Cys598Trp	c.1794C>G	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 134 BEL01GHE F0006 I01 Female Heterozygous BELGIUM NA 89
p.Asp613ThrfsX12	c.1836delA	14	612	cb EGF-like #05	Ca2+ binding	Small rearrangement	Fr.	Stop at 624	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 102 BRA01SPA F0001 I01 Male Heterozygous BRAZIL NA 39
p.Asn615del	c.1843_1845delAAC	15	615	cb EGF-like #06	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 431 BEL01GHE F0058 I0472 Male Heterozygous BELGIUM NA 89
p.Cys623Phe	c.1868G>T	15	623	cb EGF-like #06	Disulfide bonds 623-637 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1499 ITA01FLO F0028 I01 NA Heterozygous ITALIA NA 146
p.Arg627Cys	c.1879C>T	15	627	cb EGF-like #06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12 UKD01EDI F0001 I50 Female Heterozygous U.K. NA 7
p.Tyr635Cys	c.1904A>G	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 644 FRA01BOU F0211 I0250 Male Heterozygous FRANCE NA 64
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.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2854 POR01POR F0001 I0004 Male Heterozygous PORTUGAL NA 220 2855 POR01POR F0001 I0005 Male Heterozygous PORTUGAL NA 220 2856 POR01POR F0001 I0006 Male Heterozygous PORTUGAL NA 220
p.Cys684Tyr	c.2051G>A	16	684	TGFBP#02	C in disulfide bonds 684-699	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1501 ITA01FLO F0030 I01 NA Heterozygous ITALIA NA 146
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.Ala705Thr	c.2113G>A	16-17	705	TGFBP#02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 87 AUS01NAD F0001 I03 Male Heterozygous AUSTRALIA NA 36
	c.IVS17-2A>G (c.2168-2A>G)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 475 GER01BER F0035 I02 Female Heterozygous GERMANY NA 95
p.Cys734Phe	c.2201G>T	18	734	cb EGF-like #07	Disulfide bonds 734-748 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 459 GER01BER F0036 I65 Male Heterozygous GERMANY NA 95
p.Cys750Ser	c.2248T>A	18	750	cb EGF-like #07	Disulfide bonds 750-763 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 658 FRA01BOU F0214 I0253 Female Heterozygous FRANCE NA 64
p.Cys750Gly	c.2248T>G	18	750	cb EGF-like #07	Disulfide bonds 750-763 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13 UKD01EDI F0002 I39 Female Heterozygous U.K. NA 7
	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.Cys776Tyr	c.2327G>A	19	776	cb EGF-like #08	Disulfide bonds 776-790 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 403 BEL01GHE F0038 I1790 Male Heterozygous BELGIUM NA 89
p.Cys805X	c.2412_2413delAT	19	804	cb EGF-like #08		Small rearrangement	Fr.	Stop at 805	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 422 ITA01FLO F0004 I07 Female Heterozygous ITALIA NA 93
p.Cys811X	c.2433C>A	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3323 BEL01GHE F0258 I0001 Female Heterozygous POLAND NA 273
p.Cys816Arg	c.2446T>C	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1503 ITA01FLO F0032 I01 NA Heterozygous ITALIA NA 146
p.Cys853AlafsX19	c.2557delT	21	853	Hybrid motif #02		Small rearrangement	Fr.	Stop at 871	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 628 FRA01BOU F0212 I0251 Male Heterozygous FRANCE NA 64
p.Glu863X	c.2586dup	21	863	Hybrid motif #02		Small rearrangement	Fr.	Stop at 863	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 434 BEL01GHE F0061 I2034 Male Heterozygous BELGIUM NA 89
p.Gly880Ser	c.2638G>A	21	880	Hybrid motif #02		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1505 ITA01FLO F0033 I01 NA Heterozygous ITALIA NA 146 1506 ITA01FLO F0034 I01 NA Heterozygous ITALIA NA 146
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.Cys896Tyr	c.2687G>A	22	896	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 358 FRA01BOU F0129 I0167 Female Heterozygous FRANCE NA 64
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.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.Cys996Arg	c.2986T>C	24	996	TGFBP#03	C in disulfide bonds 981-996	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 84 UKD03DUN F0003 I01 Male Heterozygous U.K. NA 67
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 426 CHI01HKO F0001 I0001 Male Heterozygous CHINA NA 94
p.Phe1026SerfsX9	c.3075delC	24	1025			Small rearrangement	Fr.	Stop at 1034	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2805 USA05HOU F0022 I0004 Male Heterozygous MEXICO NA 194 2807 USA05HOU F0022 I0006 Female Heterozygous MEXICO NA 194
p.Asp1028Tyr	c.3082G>T	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2126 ITA01FLO F0099 I0001 Male Heterozygous ITALIA NA 192
p.Leu1038Phe	c.3112C>T	25	1038	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3332 GER03HAN F0117 I0002 Female Heterozygous GERMANY NA 275
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
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.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 1513 ITA01FLO F0041 I01 NA Heterozygous ITALIA NA 146
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
p.Cys1138Arg	c.3412T>C	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 503 FRA01BOU F0160 I0199 Female Heterozygous FRANCE NA 64
p.Cys1153Tyr	c.3458G>A	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 88 AUS01NAD F0004 I04 Male Heterozygous AUSTRALIA NA 36
p.Asp1155Asn	c.3463G>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 79 USA05HOU F0013 I62 NA Heterozygous U.S.A Type IV 34
	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.Cys1166Tyr	c.3497G>A	28	1166	cb EGF-like #14	Disulfide bonds 1166-1180 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 97 BRA01SPA F0002 I01 Female Heterozygous BRAZIL NA 39
p.Arg1170His	c.3509G>A	28	1170	cb EGF-like #14		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 58 UKD01EDI F0004 I01 Female Heterozygous U.K. NA 23
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.Cys1182Ser	c.3545G>C	28	1182	cb EGF-like #14	Disulfide bonds 1182-1195 (C5)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 96 BRA01SPA F0003 I01 Male Heterozygous BRAZIL NA 39
p.Cys1242Tyr	c.3725G>A	30	1242	cb EGF-like #16	Disulfide bonds 1242-1254 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 21 FIN01HEL F0007 I01 Male Heterozygous FINLAND Type IV 10
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.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 619 UKD05LON F0022 I01 Male Heterozygous U.K. NA 108
p.Val1338TyrfsX75	c.4011delT	32	1337	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 103 BRA01SPA F0004 I01 Male Heterozygous BRAZIL NA 39
p.Cys1339Tyr	c.4016G>A	32	1339	cb EGF-like #18	Disulfide bonds 1326-1339 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 397 BEL01GHE F0032 I2243 Male Heterozygous BELGIUM NA 89
p.Glu1366X	c.4096G>T	33	1366	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1125 JAP06HIR F0002 I0001 NA Heterozygous JAPAN NA 119
p.Gly1418AlafsX55	c.4253_4259del	34	1418	cb EGF-like #20	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1472	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2128 USA05HOU F0020 I0001 Female Heterozygous U.S.A. NA 193
p.Cys1420Phe	c.4259G>T	34	1420	cb EGF-like #20	Disulfide bonds 1408-1420 (C3)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 487 FRA01BOU F0163 I0202 Female Heterozygous FRANCE NA 64
p.Cys1429Ser	c.4285T>A	34	1429	cb EGF-like #20	Disulfide bonds 1415-1429 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 130 BEL01GHE F0009 I01 Female Heterozygous BELGIUM NA 89
	c.IVS34+1G>A (c.4336+1G>A)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 489 FRA01BOU F0109 I0147 Female 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.Ile1455MetfsX16	c.4365_4366delCT	35	1455	cb EGF-like #21	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1470	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 285 UKD04OXF F0003 I03 NA Heterozygous U.K. Type IV 58
	c.IVS35-8G>A (c.4460-8G>A)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 440 BEL01GHE F0066 I1822 Male Heterozygous BELGIUM NA 89
p.Thr1496ArgfsX24	c.4485delC	36	1495	cb EGF-like #22		Small rearrangement	Fr.	Stop at 1519	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 286 UKD04OXF F0004 I04 NA Heterozygous U.K. NA 58
p.Cys1497Ser	c.4490G>C	36	1497	cb EGF-like #22	Disulfide bonds 1497-1511 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 98 BRA01SPA F0005 I01 Female Heterozygous BRAZIL NA 39
p.Cys1534X	c.4602C>A	37	1534	TGFBP#04	C in disulfide bonds 1534-1562	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1517 ITA01FLO F0045 I01 NA Heterozygous ITALIA NA 146
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 1518 ITA01FLO F0046 I01 NA Heterozygous ITALIA NA 146
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 279 UKD04OXF F0005 I05 NA Heterozygous U.K. Type I or II ? 58 1519 ITA01FLO F0047 I01 NA Heterozygous ITALIA NA 146
	c.IVS37+5G>T (c.4747+5G>T)	37-38	1583	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 299 CAN01TOR F0001 I19 Male Heterozygous CANADA NA 59
p.Cys1631Gly	c.4891T>G	39	1631	cb EGF-like #23	Disulfide bonds 1617-1631 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1520 ITA01FLO F0048 I01 NA Heterozygous ITALIA NA 146
p.Cys1672Arg	c.5014T>C	40	1672	cb EGF-like #24	Disulfide bonds 1658-1672 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1521 ITA01FLO F0049 I01 NA Heterozygous ITALIA NA 146
p.Cys1672Tyr	c.5015G>A	40	1672	cb EGF-like #24	Disulfide bonds 1658-1672 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1522 ITA01FLO F0050 I01 NA Heterozygous ITALIA NA 146
p.Cys1674Gly	c.5020T>G	40	1674	cb EGF-like #24	Disulfide bonds 1674-1687 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1523 ITA01FLO F0051 I01 NA Heterozygous ITALIA NA 146
p.Cys1695Tyr	c.5084G>A	41	1695	TGFBP#05	C in disulfide bonds 1695-1719	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3207 USA05HOU F0026 I0001 Female Heterozygous U.S.A. NA 255
p.Gln1735X	c.5203C>T	41	1735	TGFBP#05		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1524 ITA01FLO F0052 I01 NA Heterozygous ITALIA NA 146
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.Gly1796Glu	c.5387G>A	43	1796	cb EGF-like #25	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 576 AUS01NAD F0026 I01 Male Heterozygous AUSTRALIA NA 103
p.Glu1811Lys	c.5431G>A	44	1811	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1526 ITA01FLO F0054 I01 NA Heterozygous ITALIA NA 146 1527 ITA01FLO F0055 I01 NA Heterozygous ITALIA NA 146 1528 ITA01FLO F0056 I01 NA Heterozygous ITALIA NA 146
p.Cys1818Tyr	c.5453G>A	44	1818	cb EGF-like #26	Disulfide bonds 1818-1833 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 100 BRA01SPA F0006 I01 Female Heterozygous BRAZIL NA 39
p.Glu1823X	c.5467G>T	44	1823	cb EGF-like #26		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 99 BRA01SPA F0007 I01 Male Heterozygous BRAZIL NA 39
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 280 UKD04OXF F0006 I06 NA Heterozygous U.K. NA 58
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
	c.IVS45+2T>G (c.5671+2T>G)	45-46	1891	cb EGF-like #28	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1532 ITA01FLO F0060 I01 NA Heterozygous ITALIA NA 146
p.Glu1894Lys	c.5680G>A	46	1894	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1533 ITA01FLO F0061 I01 NA Heterozygous ITALIA NA 146
p.Gly1910Val	c.5729G>T	46	1910	cb EGF-like #28	Domain-domain packing	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 101 BRA01SPA F0008 I01 Female Heterozygous BRAZIL NA 39
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+1G>A (c.5788+1G>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 420 UKD04OXF F0021 I01 Male Heterozygous U.K. NA 90
	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 442 BEL01GHE F0068 I1316 Male Heterozygous BELGIUM NA 89
	c.IVS46+5G>T (c.5788+5G>T)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1535 ITA01FLO F0063 I01 NA Heterozygous ITALIA NA 146
p.Cys1977Trp	c.5931T>G	48	1977	cb EGF-like #30	Disulfide bonds 1977-1989 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1537 ITA01FLO F0065 I01 NA Heterozygous ITALIA NA 146
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.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.Gln2054X	c.6160C>T	49	2054	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 387 BEL01GHE F0022 I1639 Female Heterozygous BELGIUM NA 89
p.Arg2057X	c.6169C>T	50	2057	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1538 ITA01FLO F0066 I01 NA Heterozygous ITALIA NA 146
p.Tyr2062X	c.6186T>A	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1539 ITA01FLO F0067 I01 NA Heterozygous ITALIA NA 146
p.Lys2064X	c.6190A>T	50	2064	TGFBP#06	C-Term MMPs site	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1540 ITA01FLO F0068 I01 NA Heterozygous ITALIA NA 146
p.Cys2084Tyr	c.6251G>A	50	2084	TGFBP#06	C in disulfide bonds 2084-2099	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1541 ITA01FLO F0069 I01 NA Heterozygous ITALIA NA 146
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 145 USA03STA F0011 I01 Female Heterozygous U.S.A NA 42 1542 ITA01FLO F0070 I01 NA Heterozygous ITALIA NA 146
p.Asp2127Val	c.6380A>T	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2124 ITA01FLO F0097 I0001 Male Heterozygous ITALIA NA 192
	c.IVS51+1G>T (c.6379+1G>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 1543 ITA01FLO F0071 I01 NA Heterozygous ITALIA NA 146
p.Glu2130Lys	c.6388G>A	52	2130	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1544 ITA01FLO F0072 I01 NA Heterozygous ITALIA NA 146
p.Cys2137SerfsX24	c.6405_6406dup	52	2136	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2141 USA17HER F0001 I0001 Female Heterozygous U.S.A. NA 199
p.Cys2151Arg	c.6451T>C	52	2151	cb EGF-like #32	Disulfide bonds 2137-2151 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 636 FRA01BOU F0191 I0230 Male 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
	c.IVS53+1G>A (c.6616+1G>A)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1545 ITA01FLO F0073 I01 NA Heterozygous ITALIA NA 146
	c.IVS53+1G>C (c.6616+1G>C)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11 USA02OMA F0001 I01 Female Heterozygous U.S.A NA 6
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 1546 ITA01FLO F0074 I01 NA Heterozygous ITALIA NA 146
p.Asn2223His	c.6667A>C	54	2223	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 410 BEL01GHE F0045 I1317 Male Heterozygous BELGIUM NA 89
p.Cys2258Tyr	c.6773G>A	55	2258	cb EGF-like #35	Disulfide bonds 2258-2274 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 281 UKD04OXF F0007 I07 NA Heterozygous U.K. Type IV 58
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.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.Thr2341ArgfsX25	c.7022_7023delCA	57	2341	TGFBP #07		Small rearrangement	Fr.	Stop at 2365	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3324 BEL01GHE F0259 I0001 Male Heterozygous POLAND NA 273
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 1549 ITA01FLO F0077 I01 NA Heterozygous ITALIA NA 146
p.Cys2406Tyr	c.7217G>A	58	2406	cb EGF-like #37	Disulfide bonds 2406-2418 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 415 BEL01GHE F0050 I0473 Female Heterozygous BELGIUM NA 89
	c.IVS58+1G>A (c.7330+1G>A)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1552 ITA01FLO F0078 I01 NA Heterozygous ITALIA NA 146
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 31 FIN01HEL F0012 I01 Male Heterozygous FINLAND NA 13
p.Tyr2466X	c.7398C>A	59	2466	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 386 BEL01GHE F0021 I2307 Male Heterozygous BELGIUM NA 89
p.Cys2470Tyr	c.7409G>A	59	2470	cb EGF-like #38	Disulfide bonds 2470-2483 (C5)	Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1553 ITA01FLO F0079 I01 NA Heterozygous ITALIA NA 146 3203 CAN02VAN F0001 I0003 Female Heterozygous CANADA NA 254 3204 CAN02VAN F0001 I0004 Male Heterozygous CANADA NA 254 3205 CAN02VAN F0001 I0005 Male Heterozygous CANADA NA 254
p.Asp2485Val	c.7454A>T	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3009 NET03LEI F0002 I0009 Male Heterozygous TURKEY NA 219 3014 NET03LEI F0002 I0014 Male Heterozygous TURKEY NA 219
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.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 368 UKD05LON F0005 I24 Female Heterozygous U.K. NA 83
p.Gln2553X	c.7657C>T	61	2553	cb EGF-like #40		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3078 KOR01SEO F0042 I0001 Male Heterozygous S. KOREA NA 241
p.Phe2556LeufsX2	c.7667_7692del	61	2556	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2557	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 FRA01BOU F0267 I0306 Male Heterozygous FRANCE NA 145
p.Glu2570Lys	c.7708G>A	62	2570	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1555 ITA01FLO F0080 I01 NA Heterozygous ITALIA NA 146
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 412 BEL01GHE F0047 I1414 Male Heterozygous BELGIUM NA 89
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
	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.Gly2618Arg	c.7852G>A	63	2618	cb EGF-like #42		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 413 BEL01GHE F0048 I1427 Female Heterozygous BELGIUM NA 89
p.His2623Pro	c.7868A>C	63	2623	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 108 USA05HOU F0003 I01 NA Heterozygous U.S.A NA 24
p.Cys2633Arg	c.7897T>C	63	2633	cb EGF-like #42	Disulfide bonds 2633-2646 (C5)	Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3336 CAN03HAM F0001 I0004 Male Heterozygous CANADA NA 276 3333 CAN03HAM F0001 I0001 Male Heterozygous CANADA NA 276 3334 CAN03HAM F0001 I0002 Male Heterozygous CANADA NA 276
p.Arg2680Cys	c.8038C>T	63	2680	cb EGF-like #43		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 59 USA05HOU F0004 I01 Male Heterozygous U.S.A NA 24
	c.IVS63+5G>A (c.8051+5G>A)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 188 USA05HOU F0006 I01 NA Heterozygous U.S.A NA 24
	c.IVS63-2A>G (c.8052-2A>G)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 60 USA05HOU F0005 I01 NA Heterozygous U.S.A NA 24
p.Arg2694X	c.8080C>T	64	2694	COOH unique region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1558 ITA01FLO F0084 I01 NA Heterozygous ITALIA NA 146
p.Pro2699HisfsX53	c.8096delC	64	2699	COOH unique region		Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1559 ITA01FLO F0085 I01 NA Heterozygous ITALIA NA 146
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.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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 654 FRA01BOU F0220 I0259 Female Heterozygous FRANCE NA 64