The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Arachnodactyly (M)

    Request ID: 6-2

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_2113del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 16	Fr.	Stop at 13	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2138 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.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.Pro39Pro	c.117A>C	1	39	NH2 unique region		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1479 ITA01FLO F0009 I01 NA Heterozygous ITALIA NA 146
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 445 GER01BER F0021 I15 Male Heterozygous GERMANY NA 95 510 FRA01BOU F0130 I0168 Female Heterozygous FRANCE NA 64
p.Cys68Phe	c.203G>T	2	68	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1661 CHI05HAN F0001 I0001 Female Heterozygous CHINA NA 154
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 287 UKD04OXF F0001 I01 NA Heterozygous U.K. Type I or II ? 58 319 JAP05YON F0003 I0001 Male Heterozygous JAPAN NA 79 578 USA03STA F0066 I1075 NA Heterozygous U.S.A NA 104 2185 FRA04DIJ F0001 I0001 Female Heterozygous FRANCE NA 256
	c.IVS2-3C>G (c.248-3C>G)	2-3	83	EGF-like #01		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 441 BEL01GHE F0067 I1314 Female Heterozygous BELGIUM NA 89
	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.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.Cys111Arg	c.331T>C	3	111	EGF-like #01	Disulfide bonds 102-111 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 111 UKD01EDI F0005 I01 Female Heterozygous U.K. NA 41
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	4
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 89 612 UKD05LON F0014 I01 Male Heterozygous U.K. NA 108 1910 CHI05HAN F0008 I0001 Male Heterozygous CHINA NA 177
p.Tyr170X	c.510C>G	5	170	EGF-like#03		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 690 AUS02WES F0004 I01 NA Heterozygous AUSTRALIA NA 114
p.Glu178X	c.531insC	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Fr.	Stop at 178	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2976 BEL01GHE F0257 I0001 Female Heterozygous BELGIUM NA 236
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	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	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1486 ITA01FLO F0016 I01 NA Heterozygous ITALIA NA 146 2960 CHI08BEI F0004 I0001 Male Heterozygous CHINA NA 232 2961 CHI08BEI F0004 I0002 Female Heterozygous CHINA NA 232 2962 CHI08BEI F0004 I0003 Female Heterozygous CHINA NA 232 2963 CHI08BEI F0004 I0004 Female Heterozygous CHINA NA 232 2964 CHI08BEI F0004 I0005 Female Heterozygous CHINA NA 232 2965 CHI08BEI F0004 I0006 Male Heterozygous CHINA NA 232 2966 CHI08BEI F0004 I0007 Male Heterozygous CHINA NA 232 2967 CHI08BEI F0004 I0008 Male Heterozygous CHINA NA 232
p.Trp217Gly	c.649T>G	6	217	Hybrid module#01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 20 FIN01HEL F0006 I01 Male Heterozygous FINLAND Type II 10
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 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.Glu249X	c.745G>T	7	249	cb EGF-like #01	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 580 USA03STA F0068 I860 NA Heterozygous U.S.A Type II 104
p.Cys271X	c.813C>A	7	271	cb EGF-like #01	Disulfide bonds 257-271 (C4)	Small rearrangement	Tv	C->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3338 CHI17SHA F0001 I0001 Female Heterozygous CHINA NA 278 3339 CHI17SHA F0001 I0002 Male Heterozygous CHINA NA 278 3340 CHI17SHA F0001 I0003 Female Heterozygous CHINA NA 278
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.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	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
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.Cys476Gly	c.1426T>G	11	476	EGF-like #04	Disulfide bonds 476-488 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 26 USA01BAL F0012 I01 NA Heterozygous U.S.A Type IV 11
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.Cys488X	c.1464T>A	11	488	EGF-like #04	Disulfide bonds 476-488 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2043 JAP07TOK F0002 I0001 Male Heterozygous JAPAN NA 187
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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.Cys499Tyr	c.1496G>A	12	499	cb EGF-like #03	Disulfide bonds 499-513 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2949 USA03STA F0090 I0001 Female Heterozygous U.S.A. NA 228
p.Arg516X	c.1546C>T	12	516	cb EGF-like #03		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 657 FRA01BOU F0166 I0205 Female Heterozygous FRANCE NA 64
p.Thr524AsnfsX9	c.1570dup	12	524	cb EGF-like #03		Small rearrangement	Fr.	Stop at 532	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 638 FRA01BOU F0172 I0211 Female Heterozygous FRANCE NA 64
p.Ile531_Asp2055del	c.1589_6163del	12-13	530	cb EGF-like #04	Ca2+ binding	Large rearrangement Deletion from exon 13 to 49	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1881 UKD08SOU F0001 I0001 Female Heterozygous U.K. NA 168
p.Cys534Tyr	c.1601G>A	13	534	cb EGF-like #04	Disulfide bonds 534-546 (C1)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 302 USA09FAR F0001 I01 Male Heterozygous U.S.A NA 69 2842 USA09FAR F0003 I01 Male Heterozygous U.S.A. NA 210
p.Cys541Tyr	c.1622G>A	13	541	cb EGF-like #04	Disulfide bonds 541-555 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2041 GER03HAN F0094 I0035 Male Heterozygous GERMANY NA 185
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 89 112 UKD01EDI F0006 I01 Female Heterozygous U.K. NA 41 559 USA04NOR F0013 I3675 Male Heterozygous U.S.A NA 102
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.Arg565GlnfsX14	c.1694delG	13	565	cb EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3233 AUS01VIE F0001 I0002 Male Heterozygous AUSTRIA NA 271
p.Cys570Tyr	c.1709G>A	13	570	cb EGF-like #04	Disulfide bonds 557-570 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 384 BEL01GHE F0019 I2264 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.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.Cys587Tyr	c.1760G>A	14	587	cb EGF-like #05	Disulfide bonds 576-587 (C3)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 76 GER01BER F0001 I03 Female Heterozygous GERMANY NA 31 449 GER01BER F0026 I03 Female Heterozygous GERMANY NA 95
p.Gly592Asp	c.1775G>A	14	592	cb EGF-like #05	Domain-domain packing	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 382 BEL01GHE F0014 I2359 Female Heterozygous BELGIUM NA 89
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.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.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 644 FRA01BOU F0211 I0250 Male Heterozygous FRANCE NA 64
p.Cys637Arg	c.1909T>C	15	637	cb EGF-like #06	Disulfide bonds 623-637 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 272 USA03STA F0052 I16 NA Heterozygous U.S.A Type II 57
p.Cys652Tyr	c.1955G>A	15	652	cb EGF-like #06	Disulfide bonds 639-652 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 618 UKD05LON F0020 I01 Female Heterozygous U.K. NA 108
	c.IVS15-1delG (c.1961-1delG)	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Tv	delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3234 AUS01VIE F0002 I0001 Female Heterozygous AUSTRIA NA 271
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.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2851 POR01POR F0001 I0001 Female Heterozygous PORTUGAL NA 220 2852 POR01POR F0001 I0002 Female Heterozygous PORTUGAL NA 220 2853 POR01POR F0001 I0003 Female Heterozygous PORTUGAL NA 220 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 2858 POR01POR F0001 I0008 Male Heterozygous PORTUGAL NA 220
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.Cys683Arg	c.2047T>C	16	683	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 455 GER01BER F0031 I59 Female Heterozygous GERMANY NA 95
p.Cys685Trp	c.2055C>G	16	685	TGFBP#02	C in disulfide bonds 685-711	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 453 GER01BER F0033 I19 Male Heterozygous GERMANY NA 95
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.IVS16-1G>C (c.2114-1G>C)	16-17	705	TGFBP#02		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 439 BEL01GHE F0065 I0795 Female Heterozygous BELGIUM NA 89
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
	c.IVS17-1G>T (c.2168-1G>T)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1911 CHI09GUA F0001 I0001 Male Heterozygous CHINA NA 179
	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.Cys748Tyr	c.2243G>A	18	748	cb EGF-like #07	Disulfide bonds 734-748 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 457 GER01BER F0037 I40 Female 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
p.Asn751AspfsX19	c.2251_2257del	18	751	cb EGF-like #07		Small rearrangement	Fr.	Stop at 769	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 529 KOR01SEO F0002 I01 Male Heterozygous S. KOREA NA 100
	c.IVS18+2T>C (c.2293+2T>C)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 90 USA03STA F0005 I835 NA Heterozygous U.S.A Type IV 28
	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.Cys776Gly	c.2326T>G	19	776	cb EGF-like #08	Disulfide bonds 776-790 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 461 GER01BER F0038 I37 Male Heterozygous GERMANY NA 95
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.Cys781Arg	c.2341T>C	19	781	cb EGF-like #08	Disulfide bonds 769-781 (C3)	Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 395 BEL01GHE F0030 I2178 Female Heterozygous BELGIUM NA 89 405 BEL01GHE F0040 I1663 Female Heterozygous BELGIUM NA 89 460 GER01BER F0039 I51 Male Heterozygous GERMANY NA 95
p.Cys790Ser	c.2368T>A	19	790	cb EGF-like #08	Disulfide bonds 776-790 (C4)	Small rearrangement	Tv	T->A	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3067 NET04NIJ F0004 I0001 Male Heterozygous PAKISTAN NA 240 3068 NET04NIJ F0004 I0002 Male Heterozygous PAKISTAN NA 240 3069 NET04NIJ F0004 I0003 Male Heterozygous PAKISTAN NA 240 3070 NET04NIJ F0004 I0004 Male Heterozygous PAKISTAN NA 240 3071 NET04NIJ F0004 I0005 Male Heterozygous PAKISTAN NA 240 3072 NET04NIJ F0004 I0006 Female Heterozygous PAKISTAN NA 240 3073 NET04NIJ F0004 I0007 Female Heterozygous PAKISTAN NA 240 3074 NET04NIJ F0004 I0008 Female Heterozygous PAKISTAN NA 240 3075 NET04NIJ F0004 I0009 Male Heterozygous PAKISTAN NA 240 3076 NET04NIJ F0004 I0010 Male Heterozygous PAKISTAN NA 240 3077 NET04NIJ F0004 I0011 Male Heterozygous PAKISTAN NA 240
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.Cys816Ser	c.2447G>C	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 105 AUS01NAD F0006 I01 Male Heterozygous AUSTRALIA NA 114
p.Gly819Glu	c.2456G>A	20	819	cb EGF-like #09	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1891 FRA03MON F0231 I0001 Male Heterozygous FRANCE NA 191
p.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.Cys832Tyr	c.2495G>A	20	832	cb EGF-like #09	Disulfide bonds 832-845 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 231 USA03STA F0019 I20 NA Heterozygous U.S.A Type II 54
p.Cys845Tyr	c.2534G>A	20	845	cb EGF-like #09	Disulfide bonds 832-845 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2191 FRA04DIJ F0002 I0001 Male Heterozygous FRANCE NA 256
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.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.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	3
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 1506 ITA01FLO F0034 I01 NA Heterozygous ITALIA NA 146
p.Gly884Glu	c.2651G>A	21	884	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1508 ITA01FLO F0036 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.Cys890X	c.2669_2671delGCC	21	890	Hybrid motif #02		Small rearrangement	InF	Stop at 890	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3236 AUS01VIE F0004 I0001 Female Heterozygous AUSTRIA NA 271
p.Asp893Asn	c.2677G>A	21-22	893	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 438 BEL01GHE F0028 I2090 Female Heterozygous BELGIUM NA 89
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.Cys908Arg	c.2722T>C	22	908	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 463 GER01BER F0041 I07 Male Heterozygous GERMANY NA 95
p.Cys914Ser	c.2740T>A	23	914	cb EGF-like #10	Disulfide bonds 914-926 (C1)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 667 FRA01BOU F0198 I0237 Female Heterozygous FRANCE NA 145
p.Met941LeufsX19	c.2820_2823delAATG	23	940	cb EGF-like #10	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 959	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 318 JAP05YON F0002 I0001 Male Heterozygous JAPAN NA 79
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.Gly985Arg	c.2953G>A	24	985	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 409 BEL01GHE F0044 I1318 Female Heterozygous BELGIUM NA 89
p.Gly985Glu	c.2954G>A	24	985	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 160 FRA01BOU F0115 I0153 Male Heterozygous FRANCE NA 62
p.Gly989ValfsX10	c.2966delG	24	989	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 634 FRA01BOU F0229 I0268 Male Heterozygous FRANCE NA 64
p.Glu994X	c.2980G>T	24	994	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 168 FIN01HEL F0018 I02 Male Heterozygous FINLAND NA 48
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.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 331 GER01BER F0003 I15 Female Heterozygous GERMANY NA 80 341 GER01BER F0004 I60 Female Heterozygous GERMANY NA 80 426 CHI01HKO F0001 I0001 Male Heterozygous CHINA NA 94
p.Gly1013Arg	c.3037G>C	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 104 AUS01NAD F0025 I01 Male Heterozygous AUSTRALIA NA 77
p.Thr1020Ala	c.3058A>G	24	1020			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 335 GER01BER F0005 I47 Female Heterozygous GERMANY NA 80
p.Lys1023Asn	c.3069G>C	24	1023			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18 FIN01HEL F0004 I01 Male Heterozygous FINLAND NA 10
p.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.Asp1028Val	c.3083A>T	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 427 CHI01HKO F0002 I0001 Male Heterozygous CHINA NA 94
	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.Cys1032Tyr	c.3095G>A	25	1032	cb EGF-like #11	Disulfide bonds 1032-1044 (C1)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 141 UKD03DUN F0002 I01 NA Heterozygous U.K. NA 46 718 UKD05LON F0024 I01 Male Heterozygous U.K. NA 118
p.Ser1037ThrfsX47	c.3110_3122del	25	1037	cb EGF-like #11		Small rearrangement	Fr.	Stop at 1083	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 685 CHI02CHA F0001 I0001 Male Heterozygous CHINA NA 112
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 3331 GER03HAN F0117 I0001 Male 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.Lys1043Arg	c.3128A>G	25	1043	cb EGF-like #11		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 81 USA02OMA F0004 I324 Male Heterozygous U.S.A NA 35
p.Ile1048del	c.3142_3144delATT	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 67 USA05HOU F0007 I251 NA Heterozygous U.S.A NA 26
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 78 FIN01HEL F0015 I01 Male Heterozygous FINLAND NA 33 291 NET02UTR F0001 I01 Female Heterozygous NETHERLAND NA 65 506 FRA01BOU F0242 I0281 Female Heterozygous FRANCE NA 64 620 USA10NYO F0001 I0001 Female Heterozygous U.S.A NA 105
p.Cys1053Arg	c.3157T>C	25	1053	cb EGF-like #11	Disulfide bonds 1039-1053 (C4)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 66 USA05HOU F0008 I92 Female Heterozygous U.S.A NA 26 505 FRA01BOU F0237 I0276 Female Heterozygous FRANCE NA 64
p.Cys1055Gly	c.3163T>G	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 89 AUS01NAD F0003 I05 Female Heterozygous AUSTRALIA NA 36
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.Cys1055Trp	c.3165T>G	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 399 BEL01GHE F0034 I2115 Male Heterozygous BELGIUM NA 115
p.Gly1058_Phe1059insCys	c.3175insTGC	25	1059	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 33 USA05HOU F0001 I01 NA Heterozygous U.S.A Type V d 15
p.Glu1065LysfsX23	c.3192delA	25	1064	cb EGF-like #11		Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 82 USA02OMA F0005 I554 NA Heterozygous U.S.A NA 35
p.Cys1068Gly	c.3202T>G	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 751 CAN01TOR F0002 I01 Female Heterozygous CANADA NA 123 2845 CAN01TOR F0004 I0001 Female Heterozygous SOMALIA NA 214
p.Pro1068Arg	c.[3203C>G; 3204A>G]	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Ts/Tv	T->C/C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1181 AUS02WES F0062 I01 Female Heterozygous AUSTRALIA NA 139
p.Asp1070His	c.3208G>C	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2132 TAI02TAI F0001 I0001 Female Heterozygous TAIWAN NA 195
p.Asp1070Gly	c.3209A>G	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 355 FRA01BOU F0189 I0228 Male Heterozygous FRANCE NA 64
	c.IVS25+5G>T (c.3208+5G>T)	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 19 FIN01HEL F0005 I01 Female Heterozygous FINLAND NA 10
p.Ile1071Ser	c.3212T>G	26	1071	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 561 USA02OMA F0007 I01 Female Heterozygous U.S.A NA 38
p.Asp1072Gly	c.3215A>G	26	1072	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 64 USA05HOU F0009 I182 NA Heterozygous U.S.A NA 26
p.Glu1073Lys	c.3217G>A	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 69 USA05HOU F0010 I269 Female Heterozygous U.S.A NA 26 68 USA05HOU F0011 I249 Male Heterozygous U.S.A NA 26 45 USA01BAL F0019 I01 NA Heterozygous U.S.A NA 21
p.Glu1073Asp	c.3219A>T	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 352 USA02OMA F0007 I01 Female Heterozygous U.S.A NA 38
p.Cys1074Arg	c.3220T>C	26	1074	cb EGF-like #12	Disulfide bonds 1074-1086 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17 FIN01HEL F0003 I01 NA Heterozygous FINLAND ECM incorporation 10
p.Cys1074Tyr	c.3221G>A	26	1074	cb EGF-like #12	Disulfide bonds 1074-1086 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 611 UKD05LON F0023 I01 NA Heterozygous U.K. NA 109
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.Cys1081Gly	c.3241T>G	26	1081	cb EGF-like #12	Disulfide bonds 1081-1095 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 163 FRA01BOU F0113 I0151 Male Heterozygous FRANCE NA 64
p.Cys1086Arg	c.3256T>C	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1882 USA13PRO F0001 I0001 Female Heterozygous U.S.A. NA 169 1883 USA14ALL F0001 I0001 Male Heterozygous U.S.A. NA 170
p.Cys1086Tyr	c.3257G>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 269 USA03STA F0053 I14 NA Heterozygous U.S.A Type IV 57 1826 TUR01ANK F0001 I0001 Male Heterozygous TURKEY NA 159
p.Asp1098Asp	c.3294C>T	26	1098	cb EGF-like #12		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 329 AUS01NAD F0016 I109 Female Heterozygous AUSTRALIA NA 71
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 602 GER03HAN F0014 I07 Male Heterozygous GERMANY NA 107 696 AUS02WES F0010 I01 NA Heterozygous AUSTRALIA NA 114 714 FRA01BOU F0273 I0312 Male Heterozygous FRANCE NA 145 1274 AUS02WES F0063 I01 Male Heterozygous AUSTRALIA NA 142
p.Asp1115Gly	c.3344A>G	27	1115	cb EGF-like #13	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 333 GER01BER F0007 I27 Female Heterozygous GERMANY NA 80
p.Cys1117Arg	c.3349T>C	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 65 USA05HOU F0012 I250 Male Heterozygous U.S.A NA 26
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 547 USA04NOR F0014 I3599 Male Heterozygous U.S.A NA 102 1513 ITA01FLO F0041 I01 NA Heterozygous ITALIA NA 146
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.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2 USA01BAL F0002 I01 Female Heterozygous U.S.A NA 1 1 USA01BAL F0001 I01 NA Heterozygous U.S.A Type IV 1
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.Cys1138Gly	c.3412T>G	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 651 FRA01BOU F0149 I0188 Male Heterozygous FRANCE NA 64
	c.IVS27+1G>A (c.3463+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 192 FIN01HEL F0019 I01 Male Heterozygous FINLAND NA 48
	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.Arg1170His	c.3509G>A	28	1170	cb EGF-like #14		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 58 UKD01EDI F0004 I01 Female Heterozygous U.K. NA 23 198 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.Cys1171Trp	c.3513C>G	28	1171	cb EGF-like #14	Disulfide bonds 1159-1171 (C3)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 113 UKD01EDI F0008 I01 Male Heterozygous U.K. NA 41
p.Asn1173Lys	c.3519C>G	28	1173	cb EGF-like #14	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 114 UKD01EDI F0009 I01 Male Heterozygous U.K. NA 41
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.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.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.Tyr1186Cys	c.3557A>G	28	1186	cb EGF-like #14	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 177 FRA01BOU F0105 I0143 Male Heterozygous FRANCE NA 64
p.Cys1201Tyr	c.3602G>A	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1889 TUR02ANK F0001 I0001 Male Heterozygous TURKEY NA 171
p.Ser1202_Cys1223del	c.3603_3668del	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 292 FIN01HEL F0021 I01 NA Heterozygous FINLAND NA 61
p.Cys1221Tyr	c.3662G>A	29	1221	cb EGF-like #15	Disulfide bonds 1208-1221 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1273 JAP02TOK F0002 I0001 Male Heterozygous JAPAN NA 141
p.Cys1223Tyr	c.3668G>A	29	1223	cb EGF-like #15	Disulfide bonds 1223-1236 (C5)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 73 USA01BAL F0029 I01 Female Heterozygous U.S.A NA 29 39 UKD02OXF F0002 I2521 Female Heterozygous U.K. NA 20
p.Ser1235Pro	c.3703T>C	29	1235	cb EGF-like #15		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2937 CHI08BEI F0003 I0001 Female Heterozygous CHINA NA 226
p.Cys1236Arg	c.3706T>C	29	1236	cb EGF-like #15	Disulfide bonds 1223-1236 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 983 NET01AMS F0007 I01 Male Heterozygous NETHERLAND NA 126
p.Asp1238Gly	c.3713A>G	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 334 GER01BER F0008 I35 Female Heterozygous GERMANY NA 80
p.Cys1242Tyr	c.3725G>A	30	1242	cb EGF-like #16	Disulfide bonds 1242-1254 (C1)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 21 FIN01HEL F0007 I01 Male Heterozygous FINLAND Type IV 10 266 USA03STA F0055 I02 NA Heterozygous U.S.A Type IV 57
p.Cys1249Ser	c.3746G>C	30	1249	cb EGF-like #16	Disulfide bonds 1249-1263 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3 USA01BAL F0003 I04 Female Heterozygous U.S.A Type IV 2
p.Cys1254Arg	c.3760T>C	30	1254	cb EGF-like #16	Disulfide bonds 1242-1254 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3239 AUS01VIE F0006 I0001 Female Heterozygous AUSTRIA NA 271
p.Cys1254Ser	c.3761G>C	30	1254	cb EGF-like #16	Disulfide bonds 1242-1254 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 528 KOR01SEO F0001 I01 Male Heterozygous S. KOREA NA 100
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.Cys1265Arg	c.3793T>C	30	1265	cb EGF-like #16	Disulfide bonds 1265-1278 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 183 USA01BAL F0032 I01 Female Heterozygous U.S.A NA 60
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 752 CAN01TOR F0003 I01 Male Heterozygous CANADA NA 123 2846 CAN01TOR F0005 I0001 Male Heterozygous HUNGARY NA 214
	c.IVS30-1G>T (c.3839-1G>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 USA03STA F0006 I1121 NA Heterozygous U.S.A Type IV 28
p.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.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.Cys1320Arg	c.3958T>C	31	1320	cb EGF-like #17	Disulfide bonds 1307-1320 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1516 ITA01FLO F0044 I01 NA Heterozygous ITALIA NA 146
p.Cys1320Tyr	c.3959G>A	31	1320	cb EGF-like #17	Disulfide bonds 1307-1320 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3209 USA21MIL F0001 I0001 Male Heterozygous U.S.A. NA 257
	c.IVS31+1G>A (c.3964+1G>A)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 USA02OMA F0002 I896 NA Heterozygous U.S.A Type IV 17 197 GER01BER F0002 I0775 Male Heterozygous GERMANY NA 52
	c.IVS31-2A>G (c.3965-2A>G)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 493 FRA01BOU F0185 I0224 Male Heterozygous U.S.A. NA 137
	c.IVS31-2A>T (c.3965-2A>T)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 35 USA02OMA F0003 I497 Female Heterozygous U.S.A NA 17
p.Glu1325X	c.3973G>T	32	1325	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 330 GER01BER F0010 I07 Female Heterozygous GERMANY NA 80
p.Cys1326Arg	c.3976T>C	32	1326	cb EGF-like #18	Disulfide bonds 1326-1339 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 267 USA03STA F0056 I03 NA Heterozygous U.S.A Type IV d 57
p.His1331ThrfsX19	c.3989dup	32	1330	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1349	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2042 USA15BOS F0001 I0001 Male Heterozygous U.S.A. NA 186
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.Ala1337Pro	c.4009G>C	32	1337	cb EGF-like #18		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 151 BEL01GHE F0001 I01 Female Heterozygous BELGIUM NA 89
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.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.Leu1364_Asp1404del	c.4088_4210del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 33	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1880 UKD08SOU F0002 I0001 Female Heterozygous U.K. NA 168
p.Leu1364_Asp1606del	c.4088_4816del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 38	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3248 AUS01VIE F0014 I0001 Female Heterozygous AUSTRIA NA 271
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.Cys1374Ser	c.4121G>C	33	1374	cb EGF-like #19	Disulfide bonds 1374-1389 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 700 AUS02WES F0014 I01 NA Heterozygous AUSTRALIA NA 114
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.Asp1404Tyr	c.4210G>T	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 115 UKD01EDI F0010 I01 Female Heterozygous U.K. NA 41
p.Asp1406Gly	c.4217A>G	34	1406	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 339 GER01BER F0011 I36 Female Heterozygous GERMANY NA 80
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.Leu1421Phe	c.4261C>T	34	1421	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 530 KOR01SEO F0003 I01 Male Heterozygous S. KOREA NA 100
p.Pro1424Ala	c.4270C>G	34	1424	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 107 AUS01NAD F0008 I01 Male Heterozygous AUSTRALIA NA 114 2183 FRA04DIJ F0003 I0001 Male Heterozygous FRANCE NA 256 3322 FRA04DIJ F0004 I0001 Male Heterozygous FRANCE NA 256
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.Asp1479Glu	c.4437C>G	35	1479	cb EGF-like #21		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 548 USA04NOR F0016 I3597 Female Heterozygous U.S.A NA 102
	c.IVS35-32del20a (c.4460-32del20a)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Tv	del20a	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3342 CZE01PRA F0001 I0001 Female Heterozygous CZECH NA 280
	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.Cys1513Arg	c.4537T>C	36	1513	cb EGF-like #22	Disulfide bonds 1513-1526 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 22 FIN01HEL F0008 I01 Female Heterozygous FINLAND NA 10
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
	c.IVS36+3insT (c.4582+3insT)	36-37	1528	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2844 USA09FAR F0005 I01 Male Heterozygous U.S.A. NA 210
p.Arg1530Cys	c.4588C>T	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 305 AUS01NAD F0019 I42 Male Heterozygous AUSTRALIA NA 114 1667 CHI05HAN F0007 I0001 Female Heterozygous CHINA NA 154
p.Arg1530His	c.4589G>A	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3325 UKD04OXF F0022 I0001 Female Heterozygous U.K. NA 274 3327 UKD04OXF F0022 I0003 Male Heterozygous U.K. NA 274
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	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 391 BEL01GHE F0026 I2036 Male Heterozygous BELGIUM NA 89 686 UKD06GLA F0001 I01 Female Heterozygous U.K. NA 113 1519 ITA01FLO F0047 I01 NA Heterozygous ITALIA NA 146
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
	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
	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 610 GER03HAN F0022 I01 Female Heterozygous GERMANY NA 107
p.Cys1610Gly	c.4828T>G	39	1610	cb EGF-like #23	Disulfide bonds 1610-1622 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 116 UKD01EDI F0011 I01 Female Heterozygous U.K. NA 41
p.Gly1636AlafsX4	c.4905delC	39	1635	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1869 USA12MIA F0001 I0001 Male Heterozygous U.S.A. NA 160
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.Cys1652Tyr	c.4955G>A	40	1652	cb EGF-like #24	Disulfide bonds 1652-1663 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 332 GER01BER F0014 I22 Male Heterozygous GERMANY NA 80
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.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.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	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.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.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.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.Cys1770Phe	c.5309G>T	43	1770	cb EGF-like #25	Disulfide bonds 1770-1782 (C1)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 310 AUS01NAD F0021 I25 Female Heterozygous AUSTRALIA NA 114
p.Gly1780Glu	c.5339G>A	43	1780	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 1894 FRA03MON F0405 I0001 Female Heterozygous FRANCE NA 191
p.Arg1790Pro	c.5369G>C	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 407 BEL01GHE F0042 I1597 Male Heterozygous BELGIUM NA 89 466 GER01BER F0043 I43 Male Heterozygous GERMANY NA 95
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.Cys1806Tyr	c.5417G>A	43	1806	cb EGF-like #25	Disulfide bonds 1793-1806 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 560 USA04NOR F0017 I3696 Female Heterozygous U.S.A NA 102
p.Cys1806Ser	c.5417G>C	43	1806	cb EGF-like #25	Disulfide bonds 1793-1806 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 465 GER01BER F0044 I05 Male Heterozygous GERMANY NA 95
p.Ile1809_Asp1930del	c.5423_5788del	43-44	1808	cb EGF-like #26	Ca2+ binding	Large rearrangement Deletion from exon 44 to 46	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 558 USA03STA F0065 I890 Female Heterozygous U.S.A NA 91
	c.IVS43-1G>T (c.5423-1G>T)	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 476 GER01BER F0045 I19 Female Heterozygous GERMANY NA 95
p.Glu1811Lys	c.5431G>A	44	1811	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.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 406 BEL01GHE F0041 I1506 Male Heterozygous BELGIUM NA 89
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.Cys1860Tyr	c.5579G>A	45	1860	cb EGF-like #27	Disulfide bonds 1860-1874 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1530 ITA01FLO F0058 I01 NA Heterozygous ITALIA NA 146
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
p.Tyr1873IlefsX20	c.5613delC	45	1871	cb EGF-like #27	Ca2+ binding	Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 702 AUS02WES F0016 I01 NA Heterozygous AUSTRALIA NA 114
	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.Asn1893Lys	c.5679T>A	46	1893	cb EGF-like #28	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 117 UKD01EDI F0012 I01 Male Heterozygous U.K. NA 41
p.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.Cys1895Arg	c.5683T>C	46	1895	cb EGF-like #28	Disulfide bonds 1895-1905 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 531 KOR01SEO F0004 I01 Male Heterozygous S. KOREA NA 100
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.Ile1909Thr	c.5726T>C	46	1909	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 401 BEL01GHE F0036 I0979 Male Heterozygous BELGIUM NA 89
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.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	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 92 USA03STA F0007 I0815 NA Heterozygous U.S.A Type IV 28 442 BEL01GHE F0068 I1316 Male Heterozygous BELGIUM NA 89 552 USA04NOR F0019 I3459 Male Heterozygous U.S.A NA 102 711 AUS02WES F0025 I01 NA Heterozygous AUSTRALIA NA 114
	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.Val1931del	c.5791_5793delGTT	47	1931	cb EGF-like #29	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 467 GER01BER F0046 I52 Female Heterozygous GERMANY NA 95
p.Cys1934Gly	c.5800T>G	47	1934	cb EGF-like #29	Disulfide bonds 1934-1947 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1536 ITA01FLO F0064 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.Gln1955X	c.5863C>T	47	1955	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 590 USA03STA F0078 I754 NA Heterozygous U.S.A NA 104
p.Cys1971Tyr	c.5912G>A	47	1971	cb EGF-like #29	Disulfide bonds 1958-1971 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 383 BEL01GHE F0011 I2312 Female Heterozygous BELGIUM NA 89
p.Cys1977Tyr	c.5930G>A	48	1977	cb EGF-like #30	Disulfide bonds 1977-1989 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 136 BEL01GHE F0004 I01 Female Heterozygous BELGIUM NA 89
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.Cys1998Tyr	c.5993G>A	48	1998	cb EGF-like #30	Disulfide bonds 1984-1998 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 468 GER01BER F0047 I16 Female Heterozygous GERMANY NA 95
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.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.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
	c.IVS49+2del6 (c.6163+2del6)	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement		del6	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 93 USA03STA F0008 I1070 NA Heterozygous U.S.A Type III 28
p.Cys2061Phe	c.6182G>T	50	2061	TGFBP#06	C in disulfide bonds 2061-2083	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1912 CHI09GUA F0002 I0001 Female Heterozygous CHINA NA 179
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.His2078SerfsX27	c.6231dup	50	2078	TGFBP#06	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2104	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 469 GER01BER F0025 I30 Male Heterozygous GERMANY NA 95
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.Cys2099Trp	c.6297C>G	50	2099	TGFBP#06	C in disulfide bonds 2084-2099	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 118 UKD01EDI F0013 I01 Male Heterozygous U.K. NA 41
p.Thr2101Lys	c.6302C>A	50	2101	TGFBP#06		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 357 FRA01BOU F0122 I0160 Male Heterozygous FRANCE NA 64
	c.IVS50+4insT (c.6313+4insT)	50-51	2105	TGFBP#06		Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3241 AUS01VIE F0008 I0001 Female Heterozygous AUSTRIA NA 271
p.Cys2111Tyr	c.6332G>A	51	2111	TGFBP#06	C in disulfide bonds 2085-2111	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 119 UKD01EDI F0014 I01 Male Heterozygous U.K. NA 41
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	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
p.Asp2127Glu	c.6381T>A	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 23 FIN01HEL F0009 I01 Male Heterozygous FINLAND NA 10
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.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.Gly2140Arg	c.6418G>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 1896 FRA03MON F0055 I0001 Female Heterozygous FRANCE NA 191
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.Asn2144Ser	c.6431A>G	52	2144	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14 UKD02OXF F0001 I0733 Male Heterozygous U.K. Type V 8 1668 JAP07TOK F0001 I0001 Female Heterozygous JAPAN NA 151
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.Cys2151Trp	c.6453C>G	52	2151	cb EGF-like #32	Disulfide bonds 2137-2151 (C4)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 24 FIN01HEL F0010 I01 Male Heterozygous FINLAND NA 10
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.Glu2194X	c.6580G>T	53	2194	cb EGF-like #33		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2972 SPA01MAD F0001 I0001 Male Heterozygous SPAIN NA 235 2974 SPA01MAD F0001 I0003 Female Heterozygous SPAIN NA 235
	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.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.Cys2221Gly	c.6661T>G	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 470 GER01BER F0049 I67 Female Heterozygous GERMANY NA 95
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.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.Cys2232Tyr	c.6695G>A	54	2232	cb EGF-like #34	Disulfide bonds 2232-2245 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 174 ITA01FLO F0002 I02 Female Heterozygous ITALIA NA 50
p.Pro2233Arg	c.6698C>G	54	2233	cb EGF-like #34		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3242 AUS01VIE F0009 I0001 Female Heterozygous AUSTRIA NA 271 3243 AUS01VIE F0009 I0002 Male Heterozygous AUSTRIA NA 271
p.Cys2258Arg	c.6772T>C	55	2258	cb EGF-like #35	Disulfide bonds 2258-2274 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 120 UKD01EDI F0015 I01 Female Heterozygous U.K. NA 41
p.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 472 GER01BER F0051 I45 Female Heterozygous GERMANY NA 95
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 121 UKD01EDI F0016 I01 Male Heterozygous U.K. NA 41 394 BEL01GHE F0029 I2228 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.Cys2307Ser	c.6920G>C	56	2307	cb EGF-like#36	Disulfide bonds 2295-2307 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5 USA01BAL F0006 I01 Female Heterozygous U.S.A Type IV d 3
p.Cys2316LeufsX82	c.6947delG	56	2316	cb EGF-like#36	Disulfide bonds 2302-2316 (C4)	Small rearrangement	Fr.	Stop at 2397	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3244 AUS01VIE F0010 I0001 Male Heterozygous AUSTRIA NA 271
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
	c.IVS56+1G>A (c.6997+1G>A)	56-57	2333	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 94 USA03STA F0009 I749 NA Heterozygous U.S.A Type IV 28
p.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.Cys2339Tyr	c.7016G>A	57	2339	TGFBP #07	C in disulfide bonds 2339-2363	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 473 GER01BER F0053 I21 Male 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.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
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
	c.IVS58-2A>G (c.7331-2A>G)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 324 GER01BER F0015 I55 Male Heterozygous GERMANY NA 82
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3201 CAN02VAN F0001 I0001 Female Heterozygous CANADA NA 254 3203 CAN02VAN F0001 I0003 Female Heterozygous CANADA NA 254
p.Cys2489Arg	c.7465T>C	60	2489	cb EGF-like #39	Disulfide bonds 2489-2500 (C1)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 122 UKD01EDI F0017 I01 Female Heterozygous U.K. NA 41 2840 USA09FAR F0002 I01 Male Heterozygous U.S.A. NA 210
p.Cys2511Arg	c.7531T>C	60	2511	cb EGF-like #39	Disulfide bonds 2511-2522 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 126 FIN01HEL F0011 I01 Female Heterozygous FINLAND NA 10
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.Cys2522Ser	c.7565G>C	60	2522	cb EGF-like #39	Disulfide bonds 2511-2522 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 323 GER01BER F0016 I13 Male Heterozygous GERMANY NA 82
p.Cys2535X	c.7605C>A	61	2535	cb EGF-like #40	Disulfide bonds 2535-2550 (C2)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 325 GER01BER F0017 I22 Male Heterozygous GERMANY NA 82
p.Gly2536Arg	c.7606G>A	61	2536	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 368 UKD05LON F0005 I24 Female Heterozygous U.K. NA 83 3114 UKD09SAL F0035 I0001 NA Heterozygous U.K. NA 242
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.Arg2554Gln	c.7661G>A	61	2554	cb EGF-like #40		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 546 USA04NOR F0021 I3602 Male Heterozygous U.S.A NA 102
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.Arg2576Cys	c.7726C>T	62	2576	cb EGF-like #41		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3194 USA20SAN F0001 I0001 Female Homozygous MEXICO NA 252
p.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	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 412 BEL01GHE F0047 I1414 Male Heterozygous BELGIUM NA 89 418 BEL01GHE F0053 I0803 Male Heterozygous BELGIUM NA 89 483 FRA01BOU F0183 I0222 Female Heterozygous FRANCE NA 64 509 FRA01BOU F0138 I0177 Female Heterozygous FRANCE NA 64
p.Gly2586Trp	c.7756G>T	62	2586	cb EGF-like #41	Domain-domain packing	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 652 FRA01BOU F0186 I0225 Female Heterozygous FRANCE NA 64
p.Cys2617Trp	c.7851C>G	63	2617	cb EGF-like #42	Disulfide bonds 2617-2631 (C2)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 512 FRA01BOU F0151 I0190 Female Heterozygous FRANCE NA 64
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.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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 108 USA05HOU F0003 I01 NA Heterozygous U.S.A NA 24 688 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.Gly2627Arg	c.7879G>A	63	2627	cb EGF-like #42	Domain-domain packing	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 32 FIN01HEL F0013 I01 Female Heterozygous FINLAND Type III 14
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.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.Pro2664Pro	c.7992A>C	63	2664	cb EGF-like #43	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1550 KOR01SEO F0005 I01 Male Heterozygous S. KOREA NA 100
p.Arg2680Cys	c.8038C>T	63	2680	cb EGF-like #43		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 59 USA05HOU F0004 I01 Male Heterozygous U.S.A NA 24 327 GER01BER F0019 I46 Male Heterozygous GERMANY NA 82
	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
	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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 60 USA05HOU F0005 I01 NA Heterozygous U.S.A NA 24 1900 USA05HOU F0016 I01 Female Heterozygous U.S.A. NA 120
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.Ser2709X	c.8126C>G	64	2709	COOH unique region		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3247 AUS01VIE F0013 I0001 Male Heterozygous AUSTRIA NA 271
p.Glu2717X	c.8149G>T	64	2717	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 385 BEL01GHE F0020 I1492 Male Heterozygous BELGIUM NA 89
p.Lys2719AspfsX18	c.8155_8156delAA	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2736	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2850 GER01BER F0072 I0001 Female Heterozygous GERMANY NA 218
p.Lys2719ThrfsX12	c.8155_8174del	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2730	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2859 AUS02WES F0065 I0001 Male Heterozygous IRELAND NA 221
p.Arg2726GlufsX9	c.8174_8181del	64	2725	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2734	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3231 JAP02TOK F0045 I0001 Female Heterozygous JAPAN NA 269
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 123 USA05HOU F0002 I01 Male Heterozygous U.S.A Type I 16 2184 FRA04DIJ F0005 I0001 Male Heterozygous FRANCE NA 256
p.Thr2736AsnfsX2	c.8206dup	64	2736	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2737	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3357 USA22DAL F0001 I0001 Female Heterozygous U.S.A. NA 283
p.Ile2741Thr	c.8222T>C	64	2741	FibuCTDIII-like motif		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3358 USA22DAL F0002 I0001 Female Heterozygous U.S.A. NA 283
	c.IVS64+1G>A (c.8226+1G>A)	64	2742	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3341 BEL01GHE F0260 I0001 Female Heterozygous BELGIUM NA 279
	c.IVS64+1G>T (c.8226+1G>T)	64	2742	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3359 USA22DAL F0002 I0001 Female Heterozygous U.S.A. NA 283
p.Trp2756X	c.8268G>A	65	2756	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 FIN01HEL F0002 I01 Male Heterozygous FINLAND NA 9
p.Arg2776X	c.8326C>T	65	2776	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 38 UKD01EDI F0003 I58 Female Heterozygous U.K. NA 19
p.Leu2842ProfsX7	c.8525_8529delTTAAC	65	2842	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2848	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 328 GER01BER F0020 I32 Male Heterozygous GERMANY NA 82
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2848 CHI08BEI F0002 I0001 Male Heterozygous CHINA NA 217 2849 CHI08BEI F0002 I0002 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