The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Mitral valve prolapse

    Request ID: 1-17

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
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1918 UKD07WIL F0094 I0001 Male Heterozygous U.K. NA 178 2185 FRA04DIJ F0001 I0001 Female Heterozygous FRANCE NA 256
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 85 UKD03DUN F0001 I01 Male Heterozygous U.K. NA 37 411 BEL01GHE F0046 I0916 Male Heterozygous BELGIUM NA 89 612 UKD05LON F0014 I01 Male Heterozygous U.K. NA 108
p.Arg122LeufsX6	c.365_366delGC	4	122	EGF-like #02		Small rearrangement	Fr.	Stop at 127	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 687 AUS02WES F0002 I01 NA Heterozygous AUSTRALIA NA 114
p.Cys123Tyr	c.368G>A	4	123	EGF-like #02	Disulfide bonds 123-134 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 896 ITA02PAV F0010 I01 Female Heterozygous ITALIA NA 125
p.Cys129Tyr	c.386G>A	4	129	EGF-like #02	Disulfide bonds 119-129 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 40 USA01BAL F0013 I01 NA Heterozygous U.S.A NA 21
p.Cys136Ser	c.406T>A	4	136	EGF-like #02	Disulfide bonds 136-145 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1482 ITA01FLO F0012 I01 NA Heterozygous ITALIA NA 146
p.Cys154Ser	c.461G>C	5	154	EGF-like#03	Disulfide bonds 154-166 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 689 AUS02WES F0003 I01 NA Heterozygous AUSTRALIA NA 114
p.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.Gln176SerfsX14	c.526delC	5	176	EGF-like#03		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 492 FRA01BOU F0147 I0186 Female Heterozygous FRANCE NA 64
p.Cys177Tyr	c.530G>A	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1484 ITA01FLO F0014 I01 NA Heterozygous ITALIA NA 146
p.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.Ser191IlefsX34	c.572insTCCCTGG	6	191	Hybrid module#01		Small rearrangement	Fr.	Stop at 224	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2872 POR01POR F0010 I0001 Female Heterozygous PORTUGAL NA 224
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	2
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
p.Cys224Arg	c.670T>C	6	224	Hybrid module#01		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 898 ITA02PAV F0012 I01 Male Heterozygous ITALIA NA 125
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 3174 CHI15TIA F0001 I0001 Female Heterozygous CHINA NA 248 3178 CHI15TIA F0001 I0005 Female Heterozygous CHINA NA 248 3179 CHI15TIA F0001 I0006 Female Heterozygous CHINA NA 248
p.Tyr311LeufsX37	c.931dup	8	311	cb EGF-like #02	Ca2+ binding	Small rearrangement	Fr.	Stop at 347	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 284 UKD04OXF F0002 I02 NA Heterozygous U.K. Type I or II ? 58
p.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.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 597 GER03HAN F0011 I02 Male Heterozygous GERMANY NA 107 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.Cys460Tyr	c.1379G>A	11	460	EGF-like #04	Disulfide bonds 460-474 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2951 USA03STA F0092 I0001 Female Heterozygous U.S.A. NA 228
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.Cys476Arg	c.1426T>C	11	476	EGF-like #04	Disulfide bonds 476-488 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2950 USA03STA F0091 I0001 Female Heterozygous U.S.A. NA 228
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.Arg485Cys	c.1453C>T	11	485	EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1807 NET04NIJ F0001 I0001 Male Homozygous NETHERLAND NA 158
p.Cys488Arg	c.1462T>C	11	488	EGF-like #04	Disulfide bonds 476-488 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1490 ITA01FLO F0020 I01 NA Heterozygous ITALIA NA 146
p.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.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.Cys504Phe	c.1511G>T	12	504	cb EGF-like #03	Disulfide bonds 494-504 (C3)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 199 GER03HAN F0009 I01 Female Heterozygous GERMANY NA 66
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.Cys534Arg	c.1600T>C	13	534	cb EGF-like #04	Disulfide bonds 534-546 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 646 FRA01BOU F0202 I0241 Male Heterozygous FRANCE NA 64
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.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.Gly560Ser	c.1678G>A	13	560	cb EGF-like #04	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 414 BEL01GHE F0049 I1115 Female Heterozygous BELGIUM NA 89
p.Arg565X	c.1693C>T	13	565	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 516 USA01BAL F0033 I28 Female Heterozygous U.S.A NA 81
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.Cys587Tyr	c.1760G>A	14	587	cb EGF-like #05	Disulfide bonds 576-587 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 76 GER01BER F0001 I03 Female Heterozygous GERMANY NA 31
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.Cys623Phe	c.1868G>T	15	623	cb EGF-like #06	Disulfide bonds 623-637 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1499 ITA01FLO F0028 I01 NA Heterozygous ITALIA NA 146
p.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.Arg636Gly	c.1906A>G	15	636	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3355 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282
p.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.Met657AlafsX23	c.1969_1970delAT	16	657	TGFBP#02		Small rearrangement	Fr.	Stop at 679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 504 FRA01BOU F0148 I0187 Male Heterozygous FRANCE NA 64
p.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	4
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 2854 POR01POR F0001 I0004 Male Heterozygous PORTUGAL NA 220 2856 POR01POR F0001 I0006 Male Heterozygous PORTUGAL NA 220
p.Cys684Tyr	c.2051G>A	16	684	TGFBP#02	C in disulfide bonds 684-699	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2941 USA03STA F0085 I0001 Female Heterozygous U.S.A. NA 228
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
	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
p.Asp723Asn	c.2167G>A	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2123 ITA01FLO F0096 I0001 Male Heterozygous ITALIA NA 192
p.Asp723Ala	c.2168A>C	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8 USA01BAL F0008 I10 Male Heterozygous U.S.A NA 4
p.Asp723Val	c.2168A>T	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 458 GER01BER F0034 I18 Female 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
	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
p.Cys769Arg	c.2305T>C	19	769	cb EGF-like #08	Disulfide bonds 769-781 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1732 UKD07WIL F0016 I0001 Female Heterozygous U.K. NA 157
p.Cys781Arg	c.2341T>C	19	781	cb EGF-like #08	Disulfide bonds 769-781 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 460 GER01BER F0039 I51 Male Heterozygous GERMANY NA 95
p.Cys805X	c.2412_2413delAT	19	804	cb EGF-like #08		Small rearrangement	Fr.	Stop at 805	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 422 ITA01FLO F0004 I07 Female Heterozygous ITALIA NA 93
p.Cys811X	c.2433C>A	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3323 BEL01GHE F0258 I0001 Female Heterozygous POLAND NA 273
p.Cys816Arg	c.2446T>C	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1503 ITA01FLO F0032 I01 NA Heterozygous ITALIA NA 146
p.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.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.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.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 2874 POR01POR F0011 I0001 Male Heterozygous PORTUGAL NA 224
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.Gly880Ser	c.2638G>A	21	880	Hybrid motif #02		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1505 ITA01FLO F0033 I01 NA Heterozygous ITALIA NA 146 1506 ITA01FLO F0034 I01 NA Heterozygous ITALIA NA 146
p.Cys890Arg	c.2668T>C	21	890	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 124 FIN01HEL F0017 I01 Male Heterozygous FINLAND NA 45
p.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.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.Cys921Gly	c.2761T>G	23	921	cb EGF-like #10	Disulfide bonds 921-935 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 464 GER01BER F0042 I62 Male Heterozygous GERMANY NA 95
p.Cys926Tyr	c.2777G>A	23	926	cb EGF-like #10	Disulfide bonds 914-926 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3216 CAN01TOR F0006 I0001 NA Heterozygous CANADA NA 264
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.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.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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 780 AUS02WES F0026 I01 NA Heterozygous AUSTRALIA NA 114
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.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.Phe1026SerfsX9	c.3075delC	24	1025			Small rearrangement	Fr.	Stop at 1034	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2806 USA05HOU F0022 I0005 Female Heterozygous MEXICO NA 194 2807 USA05HOU F0022 I0006 Female Heterozygous MEXICO NA 194
p.Asp1028Tyr	c.3082G>T	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2126 ITA01FLO F0099 I0001 Male Heterozygous ITALIA NA 192
p.Cys1032Tyr	c.3095G>A	25	1032	cb EGF-like #11	Disulfide bonds 1032-1044 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 718 UKD05LON F0024 I01 Male Heterozygous U.K. NA 118
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.Gly1042Ser	c.3124G>A	25	1042	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1512 ITA01FLO F0040 I01 NA Heterozygous ITALIA NA 146
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.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 291 NET02UTR F0001 I01 Female Heterozygous NETHERLAND NA 65 506 FRA01BOU F0242 I0281 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.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.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.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 68 USA05HOU F0011 I249 Male Heterozygous U.S.A NA 26 45 USA01BAL F0019 I01 NA Heterozygous U.S.A NA 21 1275 AUS02WES F0064 I01 Male Heterozygous AUSTRALIA NA 142
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.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.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 419 BEL01GHE F0054 I0877 Male Heterozygous BELGIUM NA 89 696 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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 106 AUS01NAD F0007 I01 NA Heterozygous AUSTRALIA NA 114 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.Gly1127Ser	c.3379G>A	27	1127	cb EGF-like #13	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 361 USA03STA F0063 I01 Female Heterozygous U.S.A NA 78
p.Val1128Ile	c.3382G>A	27	1128	cb EGF-like #13		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 400 BEL01GHE F0035 I2254 Male Heterozygous BELGIUM NA 89
p.Cys1129Tyr	c.3386G>A	27	1129	cb EGF-like #13	Disulfide bonds 1117-1129 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 200 GER03HAN F0008 I01 Female Heterozygous GERMANY NA 66
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
p.Pro1141Leu	c.3422C>T	27	1141	cb EGF-like #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3360 ISR01HAI F0001 I0001 Male Heterozygous ISRAEL NA 284
p.Cys1153Tyr	c.3458G>A	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 88 AUS01NAD F0004 I04 Male Heterozygous AUSTRALIA NA 36
p.Asp1155Asn	c.3463G>A	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 79 USA05HOU F0013 I62 NA Heterozygous U.S.A Type IV 34
p.Asp1155AlafsX32	c.3464_3480del	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Fr.	Stop at 1186	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 29 USA03STA F0003 I773 NA Heterozygous U.S.A Type II 12
p.Cys1166Tyr	c.3497G>A	28	1166	cb EGF-like #14	Disulfide bonds 1166-1180 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 97 BRA01SPA F0002 I01 Female Heterozygous BRAZIL NA 39
p.Arg1170His	c.3509G>A	28	1170	cb EGF-like #14		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.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.Glu1200Gly	c.3599A>G	29	1200	cb EGF-like #15	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 125 FIN01HEL F0016 I01 Female Heterozygous FINLAND NA 43
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.Cys1208LeufsX22	c.3623delG	29	1208	cb EGF-like #15	Disulfide bonds 1208-1221 (C2)	Small rearrangement	Fr.	Stop at 1229	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 137 BEL01GHE F0003 I01 Male Heterozygous BELGIUM NA 89
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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 73 USA01BAL F0029 I01 Female Heterozygous U.S.A NA 29
p.Gly1226X	c.3676G>T	29	1226	cb EGF-like #15	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2869 POR01POR F0006 I0001 Male Heterozygous PORTUGAL NA 224
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.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
	c.IVS29+1G>C (c.3712+1G>C)	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 707 AUS02WES F0021 I01 NA Heterozygous AUSTRALIA NA 114
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.Cys1265Tyr	c.3794G>A	30	1265	cb EGF-like #16	Disulfide bonds 1265-1278 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1515 ITA01FLO F0043 I01 NA Heterozygous ITALIA NA 146
	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+3A>T (c.3838+3A>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 708 AUS02WES F0022 I01 NA Heterozygous AUSTRALIA NA 114
	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
	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>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.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.Val1338TyrfsX75	c.4011delT	32	1337	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 103 BRA01SPA F0004 I01 Male Heterozygous BRAZIL NA 39
p.Cys1339Tyr	c.4016G>A	32	1339	cb EGF-like #18	Disulfide bonds 1326-1339 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 397 BEL01GHE F0032 I2243 Male Heterozygous BELGIUM NA 89
p.Phe1346Cys	c.4037T>G	32	1346	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2867 POR01POR F0004 I0003 Female Heterozygous PORTUGAL NA 224
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.Asn1382Ile	c.4145A>T	33	1382	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1907 ITA01FLO F0090 I0001 Female Heterozygous ITALIA NA 175
p.Cys1389Arg	c.4165T>C	33	1389	cb EGF-like #19	Disulfide bonds 1374-1389 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 304 AUS01NAD F0017 I01 NA Heterozygous AUSTRALIA NA 114
p.Gly1394_Thr1396del	c.4179_4187del	33	1393	cb EGF-like #19		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 308 AUS01NAD F0018 I79 Male Heterozygous AUSTRALIA NA 114
p.Cys1402Tyr	c.4205G>A	33	1402	cb EGF-like #19	Disulfide bonds 1391-1402 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 365 UKD05LON F0002 I28 Female Heterozygous U.K. NA 83
	c.IVS33+2T>C (c.4210+2T>C)	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 551 USA04NOR F0015 I3477 Male Heterozygous U.S.A NA 102
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.Cys1408Phe	c.4223G>T	34	1408	cb EGF-like #20	Disulfide bonds 1408-1420 (C1)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 337 GER01BER F0012 I13 Female Heterozygous GERMANY NA 80
p.Pro1424Ala	c.4270C>G	34	1424	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.Ile1455MetfsX16	c.4365_4366delCT	35	1455	cb EGF-like #21	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1470	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 285 UKD04OXF F0003 I03 NA Heterozygous U.K. Type IV 58
	c.IVS35-32del20a (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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 587 USA03STA F0075 I997 NA Heterozygous U.S.A Type II 104
p.Cys1526Ser	c.4577G>C	36	1526	cb EGF-like #22	Disulfide bonds 1513-1526 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1906 ITA01FLO F0090 I0001 Female Heterozygous ITALIA NA 175
p.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 2816 USA05HOU F0023 I0004 Male Heterozygous MEXICO NA 194
p.Arg1530His	c.4589G>A	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3328 UKD04OXF F0022 I0004 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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.Tyr1585Asn	c.4753T>A	38	1585	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3129 GER03HAN F0107 I0001 Female Heterozygous GERMANY NA 243
p.Cys1589Phe	c.4766G>T	38	1589	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 30 USA03STA F0004 I880 Male Heterozygous U.S.A Type V 12
	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.Gly1620GlufsX20	c.4857delA	39	1619	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 49 USA01BAL F0022 I01 NA Heterozygous U.S.A NA 21
p.Cys1631Gly	c.4891T>G	39	1631	cb EGF-like #23	Disulfide bonds 1617-1631 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1520 ITA01FLO F0048 I01 NA Heterozygous ITALIA NA 146
p.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 4 USA01BAL F0004 I05 Male Heterozygous U.S.A Type III 2
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.Asn1713IlefsX23	c.5134_5137dup	41	1713	TGFBP#05	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1735	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9 USA01BAL F0009 I03 Male Heterozygous U.S.A NA 4
p.Gly1762Ser	c.5284G>A	42	1762			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2174 FRA02PAR F0017 I0001 NA Heterozygous RUSSIA NA 200
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.Asn1779MetfsX114	c.5336delA	43	1779	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1525 ITA01FLO F0053 I01 NA Heterozygous ITALIA NA 146
p.Cys1782Arg	c.5344T>C	43	1782	cb EGF-like #25	Disulfide bonds 1770-1782 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 511 FRA01BOU F0143 I0182 Male Heterozygous FRANCE NA 64
p.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.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
p.Glu1811Lys	c.5431G>A	44	1811	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1527 ITA01FLO F0055 I01 NA Heterozygous ITALIA NA 146 1528 ITA01FLO F0056 I01 NA Heterozygous ITALIA NA 146
p.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.Pro1837Ser	c.5509C>T	44	1837	cb EGF-like #26		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 80 USA05HOU F0014 I18 Male Heterozygous U.S.A NA 34
p.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
	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.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.Thr1908Ile	c.5723C>T	46	1908	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 604 GER03HAN F0016 I10 Male Heterozygous GERMANY NA 107
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.Gly1910Val	c.5729G>T	46	1910	cb EGF-like #28	Domain-domain packing	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 101 BRA01SPA F0008 I01 Female Heterozygous BRAZIL NA 39
p.Cys1916Ser	c.5746T>A	46	1916	cb EGF-like #28	Disulfide bonds 1916-1928 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 514 FRA01BOU F0119 I0157 Male Heterozygous FRANCE NA 64
p.Asn1926Asp	c.5776A>G	46	1926	cb EGF-like #28		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2873 POR01POR F0010 I0001 Female Heterozygous PORTUGAL NA 224
	c.IVS46+1G>T (c.5788+1G>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 3218 CAN01TOR F0008 I0001 NA Heterozygous CANADA NA 264
	c.IVS46+5G>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 442 BEL01GHE F0068 I1316 Male Heterozygous BELGIUM NA 89 711 AUS02WES F0025 I01 NA Heterozygous AUSTRALIA NA 114
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.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.Asp1967MetfsX13	c.5898delA	47	1966	cb EGF-like #29		Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 138 BEL01GHE F0002 I01 Male Heterozygous BELGIUM NA 89
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.Cys2017Arg	c.6049T>C	49	2017	cb EGF-like #31	Disulfide bonds 2017-2029 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 250 USA03STA F0084 I06 NA Heterozygous U.S.A Type IV d 54
p.Cys2053Phe	c.6158G>T	49	2053	cb EGF-like #31	Disulfide bonds 2040-2053 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 278 USA03STA F0061 I25 NA Heterozygous U.S.A Type I 57
p.Asp2055IlefsX4	c.6163delG	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 591 USA03STA F0079 I733 NA Heterozygous U.S.A Type II 104
	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.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.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.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
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 145 USA03STA F0011 I01 Female Heterozygous U.S.A NA 42 1542 ITA01FLO F0070 I01 NA Heterozygous ITALIA NA 146
p.Asp2127Val	c.6380A>T	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2124 ITA01FLO F0097 I0001 Male Heterozygous ITALIA NA 192
	c.IVS51+1G>T (c.6379+1G>T)	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1543 ITA01FLO F0071 I01 NA Heterozygous ITALIA NA 146
p.Glu2130Lys	c.6388G>A	52	2130	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1544 ITA01FLO F0072 I01 NA Heterozygous ITALIA NA 146
p.Cys2137SerfsX24	c.6405_6406dup	52	2136	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2141 USA17HER F0001 I0001 Female Heterozygous U.S.A. NA 199
p.Cys2137_Lys2138dup	c.6409_6411dup	52	2138	cb EGF-like #32		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 513 FRA01BOU F0150 I0189 Female Heterozygous FRANCE NA 64
p.Gly2140Glu	c.6419G>A	52	2140	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1895 FRA03MON F0249 I0001 Female Heterozygous FRANCE NA 191
p.Asn2144Ser	c.6431A>G	52	2144	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1668 JAP07TOK F0001 I0001 Female Heterozygous JAPAN NA 151
p.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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 637 FRA01BOU F0222 I0261 Male Heterozygous FRANCE NA 64
p.Thr2167_Asp2206del	c.6497_6616del	52-53	2166	cb EGF-like #33	Ca2+ binding	Large rearrangement Deletion from exon 53 to 53	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 555 BEL01GHE F0013 I1539 Female Heterozygous BELGIUM NA 89
p.Glu2193X	c.6577G>T	53	2193	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 312 AUS01NAD F0023 I43 Female Heterozygous AUSTRALIA NA 114
	c.IVS53+1G>A (c.6616+1G>A)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1545 ITA01FLO F0073 I01 NA Heterozygous ITALIA NA 146
	c.IVS53+1G>C (c.6616+1G>C)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11 USA02OMA F0001 I01 Female Heterozygous U.S.A NA 6
p.Cys2221Arg	c.6661T>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Ts	T->C	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.Cys2251Arg	c.6751T>C	55	2251	cb EGF-like #35	Disulfide bonds 2251-2265 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 607 GER03HAN F0019 I13 Female Heterozygous GERMANY NA 107
p.Arg2282Trp	c.6844C>T	55	2282	cb EGF-like #35		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.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.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.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.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
	c.IVS57-2A>G (c.7205-2A>G)	57-58	2402	cb EGF-like #37	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 95 USA03STA F0010 I970 NA Heterozygous U.S.A Type IV 28
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.Thr2431LeufsX7	c.7291delA	58	2431	cb EGF-like #37		Small rearrangement	Fr.	Stop at 2437	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 207 GER03HAN F0001 I01 Female Heterozygous GERMANY NA 66
p.Cys2442Trp	c.7326T>G	58	2442	cb EGF-like #37	Disulfide bonds 2429-2442 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 705 AUS02WES F0019 I01 NA Heterozygous AUSTRALIA NA 114
p.Cys2470Tyr	c.7409G>A	59	2470	cb EGF-like #38	Disulfide bonds 2470-2483 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3201 CAN02VAN F0001 I0001 Female Heterozygous CANADA NA 254
p.Asp2485Val	c.7454A>T	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3000 NET03LEI F0002 I0001 Male Homozygous TURKEY NA 270 3001 NET03LEI F0002 I0002 Female Homozygous TURKEY NA 270 3005 NET03LEI F0002 I0005 Male Homozygous TURKEY NA 219
p.Leu2486_Asp2607del	c.7456_7821del	60	2486	cb EGF-like #39	Ca2+ binding	Large rearrangement Deletion from exon 60 to 63	InF	In frame del	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2833 FIN01HEL F0001 I03 Female Heterozygous U.K. NA 209 2834 FIN01HEL F0001 I04 Male Heterozygous U.K. NA 209 2835 FIN01HEL F0001 I05 Female Heterozygous U.K. NA 209 2838 FIN01HEL F0001 I08 Female Heterozygous U.K. NA 209 2839 FIN01HEL F0001 I09 Female Heterozygous U.K. NA 209
p.Cys2489Arg	c.7465T>C	60	2489	cb EGF-like #39	Disulfide bonds 2489-2500 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.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.Gly2536Arg	c.7606G>A	61	2536	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 368 UKD05LON F0005 I24 Female Heterozygous U.K. NA 83
p.Gln2553X	c.7657C>T	61	2553	cb EGF-like #40		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3078 KOR01SEO F0042 I0001 Male Heterozygous S. KOREA NA 241
p.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.Phe2556LeufsX2	c.7667_7692del	61	2556	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2557	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 FRA01BOU F0267 I0306 Male Heterozygous FRANCE NA 145
p.Thr2561Pro	c.7681A>C	61	2561	cb EGF-like #40		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1554 ITA01FLO F0080 I01 NA Heterozygous ITALIA NA 146
p.Glu2570Lys	c.7708G>A	62	2570	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1555 ITA01FLO F0080 I01 NA Heterozygous ITALIA NA 146
p.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.Cys2581Ser	c.7741T>A	62	2581	cb EGF-like #41	Disulfide bonds 2571-2581 (C3)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3002 NET03LEI F0003 I0001 Female Heterozygous NETHERLAND NA 270
p.Ile2585Thr	c.7754T>C	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 412 BEL01GHE F0047 I1414 Male Heterozygous BELGIUM NA 89 483 FRA01BOU F0183 I0222 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.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.Cys2633Arg	c.7897T>C	63	2633	cb EGF-like #42	Disulfide bonds 2633-2646 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3334 CAN03HAM F0001 I0002 Male Heterozygous CANADA NA 276
p.Tyr2639Cys	c.7916A>G	63	2639	cb EGF-like #42		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2136 NET05GRO F0001 I0001 Male Heterozygous NETHERLAND NA 197
p.Phe2642LeufsX40	c.7926delC	63	2642	cb EGF-like #42		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 369 UKD05LON F0006 I26 Female Heterozygous U.K. NA 83
p.Gln2656AlafsX22	c.7965_7977del	63	2655	cb EGF-like #43		Small rearrangement	Fr.	Stop at 2677	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 594 USA03STA F0083 I420 NA Heterozygous U.S.A NA 104
p.Gln2656X	c.7966C>T	63	2656	cb EGF-like #43		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 635 FRA01BOU F0136 I0175 Female Heterozygous FRANCE NA 64
p.Cys2663Ser	c.7988G>C	63	2663	cb EGF-like #43	Disulfide bonds 2652-2663 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1126 JAP06HIR F0003 I0001 NA Heterozygous JAPAN NA 119
p.Arg2680Cys	c.8038C>T	63	2680	cb EGF-like #43		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.Arg2694X	c.8080C>T	64	2694	COOH unique region		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 703 AUS02WES F0017 I01 NA Heterozygous AUSTRALIA NA 114 1558 ITA01FLO F0084 I01 NA Heterozygous ITALIA NA 146
p.Pro2699HisfsX53	c.8096delC	64	2699	COOH unique region		Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1559 ITA01FLO F0085 I01 NA Heterozygous ITALIA NA 146
p.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.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 1560 ITA01FLO F0086 I01 NA Heterozygous ITALIA NA 146 3356 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282
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>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.Glu2746AspfsX13	c.8238_8239delGA	65	2746	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2758	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 50 USA01BAL F0028 I01 Female Heterozygous U.S.A NA 21
p.Gln2867X	c.8599C>T	65	2867	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 498 FRA01BOU F0176 I0215 Male Heterozygous FRANCE NA 64 654 FRA01BOU F0220 I0259 Female Heterozygous FRANCE NA 64