The UMD-FBN1 mutations database
Mutations associated with phenotype: SI-Significant striae atrophicae (m)(1)

    Request ID: 8-8

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1_164del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 1	Fr.	Stop at 9	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2137 SWI01ZUR F0052 I01 NA Heterozygous SWITZERLAND NA 110
p.Met1?	c.1_538del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 5	Fr.	Stop at 10	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2940 USA18SLC F0001 I0001 Male Heterozygous U.S.A. NA 227
p.Ala42ProfsX66	c.124delG	1	42	NH2 unique region	N-Term Furine/Pace site	Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 436 BEL01GHE F0063 I1656 Male Heterozygous BELGIUM NA 89
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.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 445 GER01BER F0021 I15 Male Heterozygous GERMANY NA 95
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 287 UKD04OXF F0001 I01 NA Heterozygous U.K. Type I or II ? 58 578 USA03STA F0066 I1075 NA Heterozygous U.S.A NA 104 2185 FRA04DIJ F0001 I0001 Female Heterozygous FRANCE NA 256
	c.IVS2-7T>G (c.248-7T>G)	2-3	83	EGF-like #01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 314 AUS01NAD F0010 I10 Female Heterozygous AUSTRALIA NA 114
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.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 416 BEL01GHE F0051 I2903 Female Heterozygous BELGIUM NA 89
p.Arg122LeufsX6	c.365_366delGC	4	122	EGF-like #02		Small rearrangement	Fr.	Stop at 127	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 687 AUS02WES F0002 I01 NA Heterozygous AUSTRALIA NA 114
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.Cys154Ser	c.461G>C	5	154	EGF-like#03	Disulfide bonds 154-166 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 689 AUS02WES F0003 I01 NA Heterozygous AUSTRALIA NA 114
p.Asn164Ser	c.491A>G	5	164	EGF-like#03		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 613 UKD05LON F0015 I01 Female Heterozygous U.K. NA 108
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.Cys177Ser	c.529T>A	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1483 ITA01FLO F0013 I01 NA Heterozygous ITALIA NA 146
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.Asp180His	c.538G>C	5-6	180	Hybrid module#01		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2122 ITA01FLO F0095 I0001 Female Heterozygous ITALIA NA 192
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 354 FRA01BOU F0142 I0181 Female Heterozygous FRANCE NA 64 1485 ITA01FLO F0015 I01 NA Heterozygous ITALIA NA 146
p.Gly214Ser	c.640G>A	6	214	Hybrid module#01		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2961 CHI08BEI F0004 I0002 Female Heterozygous CHINA NA 232 2962 CHI08BEI F0004 I0003 Female Heterozygous CHINA NA 232
p.His219ProfsX111	c.656delA	6	219	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 579 USA03STA F0067 I807 NA Heterozygous U.S.A Type I 104
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 614 UKD05LON F0016 I01 Male Heterozygous U.K. NA 108
p.Cys271X	c.813C>A	7	271	cb EGF-like #01	Disulfide bonds 257-271 (C4)	Small rearrangement	Tv	C->A	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3174 CHI15TIA F0001 I0001 Female Heterozygous CHINA NA 248 3175 CHI15TIA F0001 I0002 Female Heterozygous CHINA NA 248 3177 CHI15TIA F0001 I0004 Male Heterozygous CHINA NA 248 3178 CHI15TIA F0001 I0005 Female Heterozygous CHINA NA 248 3179 CHI15TIA F0001 I0006 Female Heterozygous CHINA NA 248 3181 CHI15TIA F0001 I0008 Female Heterozygous CHINA NA 248 3338 CHI17SHA F0001 I0001 Female Heterozygous CHINA NA 278 3340 CHI17SHA F0001 I0003 Female Heterozygous CHINA NA 278
p.Tyr311LeufsX37	c.931dup	8	311	cb EGF-like #02	Ca2+ binding	Small rearrangement	Fr.	Stop at 347	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 284 UKD04OXF F0002 I02 NA Heterozygous U.K. Type I or II ? 58
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.Thr354Ser	c.1061C>G	9	354	TGFBP#01	conserved AA in TGFBP	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3361 USA22DAL F0003 I0001 Female Heterozygous U.S.A. NA 285
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.Trp366Cys	c.1098G>T	9	366	TGFBP#01		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 417 BEL01GHE F0052 I3372 Female Heterozygous BELGIUM NA 89
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.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 FRA01BOU F0123 I0161 Female 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
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.Cys474_Asp490delinsTyr	c.1421_1468del	11	474	EGF-like #04	Disulfide bonds 460-474 (C4)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 128 FIN01HEL F0020 I01 Male Heterozygous FINLAND NA 68
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.Lys478X	c.1432A>T	11	478	EGF-like #04		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 623 FRA01BOU F0190 I0229 Female Heterozygous FRANCE NA 64
p.Gly479ArgfsX12	c.1434dup	11	479	EGF-like #04	conserved AA in EGF-like	Small rearrangement	Fr.	Stop at 490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 656 FRA01BOU F0241 I0280 Male Heterozygous FRANCE NA 64
p.Cys488Arg	c.1462T>C	11	488	EGF-like #04	Disulfide bonds 476-488 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1490 ITA01FLO F0020 I01 NA Heterozygous ITALIA NA 146
p.Asp490ValfsX89	c.1469delA	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 692 AUS02WES F0006 I01 NA Heterozygous AUSTRALIA NA 114
	c.IVS11+5G>A (c.1468+5G>A)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2998 NET01AMS F0008 I0001 Female Heterozygous NETHERLAND NA 212 2999 NET01AMS F0008 I0002 Male Heterozygous NETHERLAND NA 212
p.Cys499Arg	c.1495T>C	12	499	cb EGF-like #03	Disulfide bonds 499-513 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 268 USA03STA F0050 I09 NA Heterozygous U.S.A Type IV d 57
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.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.Asn543LysfsX14	c.1629_1633delTGGAC	13	543	cb EGF-like #04		Small rearrangement	Fr.	Stop at 556	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 693 AUS02WES F0007 I01 NA Heterozygous AUSTRALIA NA 114
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 135 BEL01GHE F0005 I01 Male Heterozygous BELGIUM NA 89 615 UKD05LON F0017 I01 Male Heterozygous U.K. NA 108 616 UKD05LON F0018 I01 Female Heterozygous U.K. NA 108
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.Cys570Arg	c.1708T>C	13	570	cb EGF-like #04	Disulfide bonds 557-570 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 275 USA03STA F0051 I21 NA Heterozygous U.S.A Type II 57
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.Cys582Arg	c.1744T>C	14	582	cb EGF-like #05	Disulfide bonds 582-596 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1497 ITA01FLO F0026 I01 NA Heterozygous ITALIA NA 146
p.Gly585Arg	c.1753G>C	14	585	cb EGF-like #05	conserved AA in cbEGF-like	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1165 FRA03MON F0021 I0001 Female Heterozygous FRANCE NA 191
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.Cys623Phe	c.1868G>T	15	623	cb EGF-like #06	Disulfide bonds 623-637 (C2)	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1499 ITA01FLO F0028 I01 NA Heterozygous ITALIA NA 146 2843 USA09FAR F0004 I01 Male Heterozygous U.S.A. NA 210
p.Cys628X	c.1884C>A	15	628	cb EGF-like #06	Disulfide bonds 617-628 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 581 USA03STA F0069 I969 NA Heterozygous U.S.A Type I 104
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 1500 ITA01FLO F0029 I01 NA Heterozygous ITALIA NA 146
p.Cys637Tyr	c.1910G>A	15	637	cb EGF-like #06	Disulfide bonds 623-637 (C4)	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3185 CHI15TIA F0002 I0002 Male Heterozygous CHINA NA 248 3186 CHI15TIA F0002 I0003 Female Heterozygous CHINA NA 248 3187 CHI15TIA F0002 I0004 Male Heterozygous CHINA NA 248
p.Cys652Ser	c.1955G>C	15	652	cb EGF-like #06	Disulfide bonds 639-652 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 694 AUS02WES F0008 I01 NA Heterozygous AUSTRALIA NA 114
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.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.Cys661Tyr	c.1982G>A	16	661	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 456 GER01BER F0029 I62 Female Heterozygous GERMANY NA 95
p.Ser681Tyr	c.2042C>A	16	681	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 454 GER01BER F0030 I31 Male Heterozygous GERMANY NA 95
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.Cys711Tyr	c.2132G>A	17	711	TGFBP#02	C in disulfide bonds 685-711	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 86 AUS01NAD F0002 I02 Male Heterozygous AUSTRALIA NA 36
p.Asp723Asn	c.2167G>A	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2123 ITA01FLO F0096 I0001 Male Heterozygous ITALIA NA 192
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
	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.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.Asn823ThrfsX24	c.2468delA	20	823	cb EGF-like #09	Ca2+ binding	Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 695 AUS02WES F0009 I01 NA Heterozygous AUSTRALIA NA 114
p.Cys845Phe	c.2534G>T	20	845	cb EGF-like #09	Disulfide bonds 832-845 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3235 AUS01VIE F0003 I0001 Female Heterozygous AUSTRIA NA 271
p.Gln855X	c.2563C>T	21	855	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 633 FRA01BOU F0259 I0298 Female Heterozygous FRANCE NA 64
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 582 USA03STA F0070 I993 NA Heterozygous U.S.A Type III 104
p.Cys862Arg	c.2584T>C	21	862	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 27 USA03STA F0001 I827 Male Heterozygous U.S.A Type IV 12
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.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.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 601 GER03HAN F0010 I06 NA Heterozygous GERMANY NA 107 1505 ITA01FLO F0033 I01 NA Heterozygous ITALIA NA 146
p.Cys921Gly	c.2761T>G	23	921	cb EGF-like #10	Disulfide bonds 921-935 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 464 GER01BER F0042 I62 Male Heterozygous GERMANY NA 95
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.Cys1008Tyr	c.3023G>A	24	1008	TGFBP#03	C in disulfide bonds 982-1008	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1510 ITA01FLO F0038 I01 NA Heterozygous ITALIA NA 146
p.Phe1026SerfsX9	c.3075delC	24	1025			Small rearrangement	Fr.	Stop at 1034	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2805 USA05HOU F0022 I0004 Male Heterozygous MEXICO NA 194 2806 USA05HOU F0022 I0005 Female Heterozygous MEXICO NA 194 2807 USA05HOU F0022 I0006 Female Heterozygous MEXICO NA 194
	c.IVS24+1G>T (c.3082+1G>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 340 GER01BER F0006 I54 Male Heterozygous GERMANY NA 80
p.Leu1038Phe	c.3112C>T	25	1038	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3331 GER03HAN F0117 I0001 Male Heterozygous GERMANY NA 275 3332 GER03HAN F0117 I0002 Female Heterozygous GERMANY NA 275
p.Cys1039Tyr	c.3116G>A	25	1039	cb EGF-like #11	Disulfide bonds 1039-1053 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 234 USA03STA F0022 I08 NA Heterozygous U.S.A Type IV d 54
p.Cys1055Tyr	c.3164G>A	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 398 BEL01GHE F0033 I2112 Male Heterozygous BELGIUM NA 89
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 602 GER03HAN F0014 I07 Male Heterozygous GERMANY NA 107 714 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.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.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.Tyr1136X	c.3408C>G	27	1136	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1514 ITA01FLO F0042 I01 NA Heterozygous ITALIA NA 146
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 697 AUS02WES F0011 I01 NA Heterozygous AUSTRALIA NA 114
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 198 USA01BAL F0031 I01 Female Heterozygous U.S.A NA 60
p.Cys1171Arg	c.3511T>C	28	1171	cb EGF-like #14	Disulfide bonds 1159-1171 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 270 USA03STA F0054 I10 NA Heterozygous U.S.A Type IV d 57
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.Gly1176ArgfsX17	c.3525dup	28	1176	cb EGF-like #14	Domain-domain packing	Small rearrangement	Fr.	Stop at 1192	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 584 USA03STA F0072 I857 NA Heterozygous U.S.A Type I 104
p.Tyr1178Cys	c.3533A>G	28	1178	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 632 FRA01BOU F0258 I0297 Male Heterozygous FRANCE NA 64
p.Cys1182Trp	c.3546C>G	28	1182	cb EGF-like #14	Disulfide bonds 1182-1195 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 175 ITA01FLO F0001 I03 Male Heterozygous ITALIA NA 50
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 266 USA03STA F0055 I02 NA Heterozygous U.S.A Type IV 57
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.Cys1265Tyr	c.3794G>A	30	1265	cb EGF-like #16	Disulfide bonds 1265-1278 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1515 ITA01FLO F0043 I01 NA Heterozygous ITALIA NA 146
p.Cys1320Ser	c.3958T>A	31	1320	cb EGF-like #17	Disulfide bonds 1307-1320 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 240 USA03STA F0028 I22 NA Heterozygous U.S.A Type IV 54
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.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.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.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.Asn1382Ile	c.4145A>T	33	1382	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1907 ITA01FLO F0090 I0001 Female Heterozygous ITALIA NA 175
p.Gly1394AspfsX19	c.4179delA	33	1393	cb EGF-like #19		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 586 USA03STA F0074 I751 NA Heterozygous U.S.A Type II 104
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.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
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
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
	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.Arg1523X	c.4567C>T	36	1523	cb EGF-like #22		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 494 FRA01BOU F0127 I0165 Female Heterozygous FRANCE NA 64 587 USA03STA F0075 I997 NA Heterozygous U.S.A Type II 104
p.Cys1526Ser	c.4577G>C	36	1526	cb EGF-like #22	Disulfide bonds 1513-1526 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1906 ITA01FLO F0090 I0001 Female Heterozygous ITALIA NA 175
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 389 BEL01GHE F0024 I1183 Female Heterozygous BELGIUM NA 89
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
p.Cys1564Tyr	c.4691G>A	37	1564	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 701 AUS02WES F0015 I01 NA Heterozygous AUSTRALIA NA 114
p.Ala1569ProfsX12	c.4704delA	37	1568	TGFBP#04		Small rearrangement	Fr.	Stop at 1580	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 208 AUS01NAD F0009 I01 Male Heterozygous AUSTRALIA NA 56
p.Ala1569LysfsX13	c.4703_4704dup	37	1569	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1581	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 423 ITA01FLO F0005 I04 Female Heterozygous ITALIA NA 93
p.Cys1574TrpfsX15	c.4699_4721dup	37	1574	TGFBP#04	C in disulfide bonds 1549-1574	Small rearrangement	Fr.	Stop at 1588	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 519 BEL01GHE F0072 I0915 Male Heterozygous BELGIUM NA 89
p.Arg1596X	c.4786C>T	38	1596	TGFBP#04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 388 BEL01GHE F0023 I1766 Female Heterozygous BELGIUM NA 89
	c.IVS38-1G>A (c.4817-1G>A)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 709 AUS02WES F0023 I01 NA Heterozygous AUSTRALIA NA 114
p.Gly1620GlufsX20	c.4857delA	39	1619	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 49 USA01BAL F0022 I01 NA Heterozygous U.S.A NA 21
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.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 309 AUS01NAD F0020 I08 Female Heterozygous AUSTRALIA NA 114 392 BEL01GHE F0027 I2369 Male Heterozygous BELGIUM NA 89
p.Cys1646Arg	c.4936T>C	39	1646	cb EGF-like #23	Disulfide bonds 1633-1646 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1908 ITA01FLO F0091 I0001 NA Heterozygous ITALIA NA 175
p.Cys1663Arg	c.4987T>C	40	1663	cb EGF-like #24	Disulfide bonds 1652-1663 (C3)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 4 USA01BAL F0004 I05 Male Heterozygous U.S.A Type III 2 666 FRA01BOU F0173 I0212 Male Heterozygous FRANCE NA 145
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 273 USA03STA F0059 I17 NA Heterozygous U.S.A Type II 57
p.Cys1672Phe	c.5015G>T	40	1672	cb EGF-like #24	Disulfide bonds 1658-1672 (C4)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 274 USA03STA F0060 I18 NA Heterozygous U.S.A Type IV 57
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.Asp1689GlyfsX14	c.5065dup	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1702	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 424 ITA01FLO F0006 I06 Male Heterozygous ITALIA NA 93
	c.IVS40+3del5 (c.5065+3del5)	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Tv	del5	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 710 AUS02WES F0024 I01 NA Heterozygous AUSTRALIA NA 114
p.Arg1692SerfsX21	c.5076_5082del	41	1692	TGFBP#05		Small rearrangement	Fr.	Stop at 1712	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 425 ITA01FLO F0007 I04 Female Heterozygous ITALIA NA 93
p.Cys1695Tyr	c.5084G>A	41	1695	TGFBP#05	C in disulfide bonds 1695-1719	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3207 USA05HOU F0026 I0001 Female Heterozygous U.S.A. NA 255 3208 USA05HOU F0026 I0002 Female Heterozygous U.S.A. NA 255
p.Asn1713IlefsX23	c.5134_5137dup	41	1713	TGFBP#05	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1735	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9 USA01BAL F0009 I03 Male Heterozygous U.S.A NA 4
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.Glu1743_Asp1808del	c.5225_5422del	41-42	1742	TGFBP#05		Large rearrangement Deletion from exon 42 to 43	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 557 USA03STA F0064 I774 Female Heterozygous U.S.A NA 91
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.Asn1779MetfsX114	c.5336delA	43	1779	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1525 ITA01FLO F0053 I01 NA Heterozygous ITALIA NA 146
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.Arg1790Pro	c.5369G>C	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 407 BEL01GHE F0042 I1597 Male Heterozygous BELGIUM NA 89
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.Cys1793Trp	c.5379T>G	43	1793	cb EGF-like #25	Disulfide bonds 1793-1806 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 311 AUS01NAD F0022 I32 Female Heterozygous AUSTRALIA NA 114
p.Asp1808His	c.5422G>C	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3019 NET03LEI F0006 I0001 NA Heterozygous NETHERLAND NA 219
p.Glu1811Lys	c.5431G>A	44	1811	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.Cys1824_Gly1829dup	c.5470_5484dup	44	1829	cb EGF-like #26	Domain-domain packing	Small rearrangement	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 FRA01BOU F0168 I0207 Male Heterozygous FRANCE NA 64 518 BEL01GHE F0071 I1804 Male Heterozygous BELGIUM NA 89
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
p.Cys1860Phe	c.5579G>T	45	1860	cb EGF-like #27	Disulfide bonds 1860-1874 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 715 FRA01BOU F0182 I0221 Female Heterozygous FRANCE NA 145
	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.Cys1900Tyr	c.5699G>A	46	1900	cb EGF-like #28	Disulfide bonds 1900-1914 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1534 ITA01FLO F0062 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.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
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>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.Cys1942X	c.5826C>A	47	1942	cb EGF-like #29	Disulfide bonds 1942-1956 (C2)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 589 USA03STA F0077 I768 NA Heterozygous U.S.A NA 104
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.Cys2017Arg	c.6049T>C	49	2017	cb EGF-like #31	Disulfide bonds 2017-2029 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 250 USA03STA F0084 I06 NA Heterozygous U.S.A Type IV d 54
p.Cys2038Phe	c.6113G>T	49	2038	cb EGF-like #31	Disulfide bonds 2024-2038 (C4)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 488 FRA01BOU F0164 I0203 Female Heterozygous FRANCE NA 64
p.Cys2053Phe	c.6158G>T	49	2053	cb EGF-like #31	Disulfide bonds 2040-2053 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 278 USA03STA F0061 I25 NA Heterozygous U.S.A Type I 57
p.Asp2055IlefsX4	c.6163delG	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 591 USA03STA F0079 I733 NA Heterozygous U.S.A Type II 104
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.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
	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.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.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.Gly2140Glu	c.6419G>A	52	2140	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1895 FRA03MON F0249 I0001 Female Heterozygous FRANCE NA 191
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.Pro2154Arg	c.6461C>G	52	2154	cb EGF-like #32		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 428 BEL01GHE F0055 I1809 Female Heterozygous BELGIUM NA 89
p.Thr2167_Asp2206del	c.6497_6616del	52-53	2166	cb EGF-like #33	Ca2+ binding	Large rearrangement Deletion from exon 53 to 53	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 555 BEL01GHE F0013 I1539 Female Heterozygous BELGIUM NA 89
p.Glu2193X	c.6577G>T	53	2193	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 312 AUS01NAD F0023 I43 Female Heterozygous AUSTRALIA NA 114
p.Gly2195X	c.6583G>T	53	2195	cb EGF-like #33	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 390 BEL01GHE F0025 I1692 Female Heterozygous BELGIUM NA 89
	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
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 499 FRA01BOU F0154 I0193 Female 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.Cys2221Ser	c.6662G>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7 USA01BAL F0005 I06 Male Heterozygous U.S.A Type IV d 2
p.Pro2233Arg	c.6698C>G	54	2233	cb EGF-like #34		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3242 AUS01VIE F0009 I0001 Female Heterozygous AUSTRIA NA 271
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.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.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.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
p.Cys2318TrpfsX6	c.6935_6953dup	56	2318	cb EGF-like#36	Disulfide bonds 2318-2331 (C5)	Small rearrangement	Fr.	Stop at 2323	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 713 FRA01BOU F0244 I0283 Female Heterozygous FRANCE NA 145
p.Arg2335Trp	c.7003C>T	57	2335	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 474 GER01BER F0052 I63 Female Heterozygous GERMANY NA 95
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.Pro2373SerfsX4	c.7116dup	57	2373	TGFBP #07		Small rearrangement	Fr.	Stop at 2376	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 553 USA04NOR F0020 I3484 Male Heterozygous U.S.A NA 102
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 704 AUS02WES F0018 I01 NA Heterozygous AUSTRALIA NA 114
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.Cys2442Trp	c.7326T>G	58	2442	cb EGF-like #37	Disulfide bonds 2429-2442 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 705 AUS02WES F0019 I01 NA Heterozygous AUSTRALIA NA 114
p.Cys2470Tyr	c.7409G>A	59	2470	cb EGF-like #38	Disulfide bonds 2470-2483 (C5)	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1553 ITA01FLO F0079 I01 NA Heterozygous ITALIA NA 146 3202 CAN02VAN F0001 I0002 Male Heterozygous CANADA NA 254 3203 CAN02VAN F0001 I0003 Female Heterozygous CANADA NA 254
p.Asp2485Val	c.7454A>T	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3001 NET03LEI F0002 I0002 Female Homozygous TURKEY NA 270 3004 NET03LEI F0002 I0004 Female Heterozygous TURKEY NA 219 3011 NET03LEI F0002 I0011 Female 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 3114 UKD09SAL F0035 I0001 NA Heterozygous U.K. NA 242
p.Ser2547ThrfsX135	c.7640delG	61	2547	cb EGF-like #40	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 706 AUS02WES F0020 I01 NA Heterozygous AUSTRALIA NA 114
p.Cys2550Tyr	c.7649G>A	61	2550	cb EGF-like #40	Disulfide bonds 2535-2550 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3245 AUS01VIE F0011 I0001 Male Heterozygous AUSTRIA NA 271
p.Thr2561Pro	c.7681A>C	61	2561	cb EGF-like #40		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1554 ITA01FLO F0080 I01 NA Heterozygous ITALIA NA 146
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.Cys2577Arg	c.7729T>C	62	2577	cb EGF-like #41	Disulfide bonds 2577-2590 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 173 ITA01FLO F0003 I01 Male Heterozygous ITALIA NA 50
p.Ile2585Thr	c.7754T>C	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 313 AUS01NAD F0024 I30 Female Heterozygous AUSTRALIA NA 71 418 BEL01GHE F0053 I0803 Male Heterozygous BELGIUM NA 89 509 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.Cys2622Ser	c.7864T>A	63	2622	cb EGF-like #42	Disulfide bonds 2611-2622 (C3)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 625 FRA01BOU F0193 I0232 Male Heterozygous FRANCE NA 64
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 688 AUS02WES F0001 I01 NA Heterozygous AUSTRALIA NA 114
p.Asn2624Lys	c.7872C>G	63	2624	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 380 BEL01GHE F0018 I1931 Female Heterozygous BELGIUM NA 89
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	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3333 CAN03HAM F0001 I0001 Male Heterozygous CANADA NA 276 3334 CAN03HAM F0001 I0002 Male Heterozygous CANADA NA 276 3335 CAN03HAM F0001 I0003 Male Heterozygous CANADA NA 276 3336 CAN03HAM F0001 I0004 Male Heterozygous CANADA NA 276
p.Tyr2639Cys	c.7916A>G	63	2639	cb EGF-like #42		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2136 NET05GRO F0001 I0001 Male Heterozygous NETHERLAND NA 197
p.Phe2642LeufsX40	c.7926delC	63	2642	cb EGF-like #42		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 369 UKD05LON F0006 I26 Female Heterozygous U.K. NA 83
p.Gln2656AlafsX22	c.7965_7977del	63	2655	cb EGF-like #43		Small rearrangement	Fr.	Stop at 2677	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 594 USA03STA F0083 I420 NA Heterozygous U.S.A NA 104
p.Gln2656X	c.7966C>T	63	2656	cb EGF-like #43		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 635 FRA01BOU F0136 I0175 Female Heterozygous FRANCE NA 64
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.Gly2668Cys	c.8002G>T	63	2668	cb EGF-like #43	Domain-domain packing	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 396 BEL01GHE F0031 I2185 Female Heterozygous BELGIUM NA 89
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
	c.IVS63+373G>T (c.8051+373G>T)	63-64	2684	cb EGF-like #43		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1909 USA05HOU F0017 I01 Female Heterozygous U.S.A. NA 176
p.Cys2686Phe	c.8057G>T	64	2686	cb EGF-like #43	Disulfide bonds 2674-2686 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 262 USA03STA F0049 I05 NA Heterozygous U.S.A Type IV d 54
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 703 AUS02WES F0017 I01 NA Heterozygous AUSTRALIA NA 114
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.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 1560 ITA01FLO F0086 I01 NA Heterozygous ITALIA NA 146
p.Glu2746AspfsX13	c.8238_8239delGA	65	2746	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2758	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 50 USA01BAL F0028 I01 Female Heterozygous U.S.A NA 21
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.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