The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Pectus carinatum (M)(2)

    Request ID: 6-27

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 527 USA05HOU F0015 I01 Male Heterozygous U.S.A Type II 99 578 USA03STA F0066 I1075 NA Heterozygous U.S.A NA 104
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1910 CHI05HAN F0008 I0001 Male Heterozygous CHINA NA 177
p.Cys123Tyr	c.368G>A	4	123	EGF-like #02	Disulfide bonds 123-134 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1481 ITA01FLO F0011 I01 NA Heterozygous ITALIA NA 146
p.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.Cys177Tyr	c.530G>A	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1484 ITA01FLO F0014 I01 NA Heterozygous ITALIA NA 146
p.Gln196X	c.586C>T	6	196	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1124 JAP06HIR F0001 I0001 NA Heterozygous JAPAN NA 119
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 354 FRA01BOU F0142 I0181 Female Heterozygous FRANCE NA 64
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 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
	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.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.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 FRA01BOU F0123 I0161 Female Heterozygous FRANCE NA 64 1489 ITA01FLO F0019 I01 NA Heterozygous ITALIA NA 146
p.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.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.Arg516X	c.1546C>T	12	516	cb EGF-like #03		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 657 FRA01BOU F0166 I0205 Female Heterozygous FRANCE NA 64
p.Arg529X	c.1585C>T	12	529	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 209 USA01BAL F0030 I01 Male Heterozygous U.S.A Type II or IV ? 60
p.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.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 616 UKD05LON F0018 I01 Female Heterozygous U.K. NA 108
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.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2854 POR01POR F0001 I0004 Male Heterozygous PORTUGAL NA 220
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.Asp765Asn	c.2293G>A	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3088 UKD09SAL F0009 I0001 NA Heterozygous U.K. NA 242
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.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.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.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.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.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.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.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 506 FRA01BOU F0242 I0281 Female Heterozygous FRANCE NA 64
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.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.Cys1086Tyr	c.3257G>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1826 TUR01ANK F0001 I0001 Male Heterozygous TURKEY NA 159
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.Arg1125X	c.3373C>T	27	1125	cb EGF-like #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1513 ITA01FLO F0041 I01 NA Heterozygous ITALIA NA 146
p.His1130IlefsX32	c.3388delC	27	1130	cb EGF-like #13	Ca2+ binding	Small rearrangement	Fr.	Stop at 1161	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 661 FRA01BOU F0217 I0256 Male Heterozygous FRANCE NA 64
p.Cys1138Arg	c.3412T>C	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 503 FRA01BOU F0160 I0199 Female Heterozygous FRANCE NA 64
p.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.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.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.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.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.Asn1256IlefsX20	c.3767delA	30	1256	cb EGF-like #16	Ca2+ binding	Small rearrangement	Fr.	Stop at 1275	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 585 USA03STA F0073 I1439 NA Heterozygous U.S.A NA 104
p.Cys1265Tyr	c.3794G>A	30	1265	cb EGF-like #16	Disulfide bonds 1265-1278 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1515 ITA01FLO F0043 I01 NA Heterozygous ITALIA NA 146
	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
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.Glu1325Gln	c.3973G>C	32	1325	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 698 AUS02WES F0012 I01 NA Heterozygous AUSTRALIA NA 114
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.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.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.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.Arg1523X	c.4567C>T	36	1523	cb EGF-like #22		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 494 FRA01BOU F0127 I0165 Female Heterozygous FRANCE NA 64 587 USA03STA F0075 I997 NA Heterozygous U.S.A Type II 104
p.Arg1530Cys	c.4588C>T	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 305 AUS01NAD F0019 I42 Male Heterozygous AUSTRALIA NA 114
p.Cys1534X	c.4602C>A	37	1534	TGFBP#04	C in disulfide bonds 1534-1562	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1517 ITA01FLO F0045 I01 NA Heterozygous ITALIA NA 146
p.Arg1539X	c.4615C>T	37	1539	TGFBP#04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1518 ITA01FLO F0046 I01 NA Heterozygous ITALIA NA 146
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 686 UKD06GLA F0001 I01 Female Heterozygous U.K. NA 113 1519 ITA01FLO F0047 I01 NA Heterozygous ITALIA NA 146
	c.IVS37+5G>T (c.4747+5G>T)	37-38	1583	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 299 CAN01TOR F0001 I19 Male Heterozygous CANADA NA 59
p.Cys1631Gly	c.4891T>G	39	1631	cb EGF-like #23	Disulfide bonds 1617-1631 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1520 ITA01FLO F0048 I01 NA Heterozygous ITALIA NA 146
p.Cys1672Arg	c.5014T>C	40	1672	cb EGF-like #24	Disulfide bonds 1658-1672 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1521 ITA01FLO F0049 I01 NA Heterozygous ITALIA NA 146
p.Cys1672Tyr	c.5015G>A	40	1672	cb EGF-like #24	Disulfide bonds 1658-1672 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1522 ITA01FLO F0050 I01 NA Heterozygous ITALIA NA 146
	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.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.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 603 GER03HAN F0015 I09 Female Heterozygous GERMANY NA 107
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 1526 ITA01FLO F0054 I01 NA Heterozygous ITALIA NA 146 1528 ITA01FLO F0056 I01 NA Heterozygous ITALIA NA 146
p.Cys1824_Gly1829dup	c.5470_5484dup	44	1829	cb EGF-like #26	Domain-domain packing	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 FRA01BOU F0168 I0207 Male Heterozygous FRANCE NA 64
	c.IVS45+2T>G (c.5671+2T>G)	45-46	1891	cb EGF-like #28	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1532 ITA01FLO F0060 I01 NA Heterozygous ITALIA NA 146
p.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.Cys1916Ser	c.5746T>A	46	1916	cb EGF-like #28	Disulfide bonds 1916-1928 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 514 FRA01BOU F0119 I0157 Male Heterozygous FRANCE NA 64
p.Gly1919Asp	c.5756G>A	46	1919	cb EGF-like #28	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 605 GER03HAN F0017 I11 Female Heterozygous GERMANY NA 107
p.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.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.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.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
	c.IVS50+3A>G (c.6313+3A>G)	50-51	2105	TGFBP#06		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 477 GER01BER F0048 I79 Male Heterozygous GERMANY NA 95
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1542 ITA01FLO F0070 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.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 14 UKD02OXF F0001 I0733 Male Heterozygous U.K. Type V 8
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.Glu2194X	c.6580G>T	53	2194	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2974 SPA01MAD F0001 I0003 Female Heterozygous SPAIN NA 235
	c.IVS53+1G>A (c.6616+1G>A)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1545 ITA01FLO F0073 I01 NA Heterozygous ITALIA NA 146
p.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.Ile2269Thr	c.6806T>C	55	2269	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1548 ITA01FLO F0076 I01 NA Heterozygous ITALIA NA 146
p.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.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.Asp2402GlyfsX68	c.7205_8051del	57-58	2402	cb EGF-like #37	Ca2+ binding	Large rearrangement Deletion from exon 58 to 63	Fr.	Stop at 2469	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2139 GER03HAN F0095 I0001 Female Heterozygous GERMANY NA 111
p.Arg2414X	c.7240C>T	58	2414	cb EGF-like #37		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 593 USA03STA F0082 I938 NA Heterozygous U.S.A Type II 104
	c.IVS58+1G>A (c.7330+1G>A)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1552 ITA01FLO F0078 I01 NA Heterozygous ITALIA NA 146
p.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 3203 CAN02VAN F0001 I0003 Female Heterozygous CANADA NA 254
p.Asp2485Val	c.7454A>T	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3005 NET03LEI F0002 I0005 Male Homozygous TURKEY NA 219
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.Ser2547ThrfsX135	c.7640delG	61	2547	cb EGF-like #40	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 706 AUS02WES F0020 I01 NA Heterozygous AUSTRALIA NA 114
p.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.Ile2585Thr	c.7754T>C	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 509 FRA01BOU F0138 I0177 Female Heterozygous FRANCE NA 64
	c.IVS62+5G>A (c.7819+5G>A)	62-63	2607	cb EGF-like #42	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1556 ITA01FLO F0082 I01 NA Heterozygous ITALIA NA 146
p.His2623Pro	c.7868A>C	63	2623	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 688 AUS02WES F0001 I01 NA Heterozygous AUSTRALIA NA 114
p.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
	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
p.Cys2686Phe	c.8057G>T	64	2686	cb EGF-like #43	Disulfide bonds 2674-2686 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 262 USA03STA F0049 I05 NA Heterozygous U.S.A Type IV d 54
p.Arg2694X	c.8080C>T	64	2694	COOH unique region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 703 AUS02WES F0017 I01 NA Heterozygous AUSTRALIA NA 114
p.Pro2699HisfsX53	c.8096delC	64	2699	COOH unique region		Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1559 ITA01FLO F0085 I01 NA Heterozygous ITALIA NA 146
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	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 2192 ITA01FLO F0103 I0001 Male Heterozygous ITALIA NA 97
p.Lys2774X	c.8320A>T	65	2774	FibuCTDIII-like motif		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1561 ITA01FLO F0087 I01 NA Heterozygous ITALIA NA 146
p.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.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 498 FRA01BOU F0176 I0215 Male Heterozygous FRANCE NA 64