The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Chest deformity (unspecified)

    Request ID: 6-7

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ala42ProfsX66	c.124delG	1	42	NH2 unique region	N-Term Furine/Pace site	Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 436 BEL01GHE F0063 I1656 Male Heterozygous BELGIUM NA 89
p.Pro56HisfsX45	c.165_247del	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Large rearrangement Deletion from exon 2 to 2	Fr.	Stop at 100	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 556 BEL01GHE F0016 I2089 Male Heterozygous BELGIUM NA 89
p.Leu74X	c.221T>A	2	74	4-cys motif LTBP-like		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3173 USA19NAS F0001 I0001 Male Heterozygous U.S.A. NA 247
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 287 UKD04OXF F0001 I01 NA Heterozygous U.K. Type I or II ? 58
	c.IVS2-3C>G (c.248-3C>G)	2-3	83	EGF-like #01		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 441 BEL01GHE F0067 I1314 Female Heterozygous BELGIUM NA 89
p.Cys89Phe	c.266G>T	3	89	EGF-like #01	Disulfide bonds 89-100 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 402 BEL01GHE F0037 I1941 Male Heterozygous BELGIUM NA 89
p.Thr101Ala	c.301A>G	3	101	EGF-like #01		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 153 FRA01BOU F0114 I0152 Female Heterozygous FRANCE NA 64
p.Cys111Arg	c.331T>C	3	111	EGF-like #01	Disulfide bonds 102-111 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 111 UKD01EDI F0005 I01 Female Heterozygous U.K. NA 41
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 85 UKD03DUN F0001 I01 Male Heterozygous U.K. NA 37
p.Arg240Cys	c.718C>T	6	240	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 133 BEL01GHE F0007 I01 Female Heterozygous BELGIUM NA 89
p.Cys271X	c.813C>A	7	271	cb EGF-like #01	Disulfide bonds 257-271 (C4)	Small rearrangement	Tv	C->A	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3174 CHI15TIA F0001 I0001 Female Heterozygous CHINA NA 248 3175 CHI15TIA F0001 I0002 Female Heterozygous CHINA NA 248 3176 CHI15TIA F0001 I0003 Male Heterozygous CHINA NA 248 3177 CHI15TIA F0001 I0004 Male Heterozygous CHINA NA 248 3181 CHI15TIA F0001 I0008 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.Ser322Cys	c.965C>G	8	322	cb EGF-like #02		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1863 USA11DUR F0001 I0001 Male Homozygous U.S.A. NA 161
p.Cys460LeufsX16	c.1378dup	11	460	EGF-like #04	Disulfide bonds 460-474 (C2)	Small rearrangement	Fr.	Stop at 475	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 306 AUS01NAD F0012 I34 Male Heterozygous AUSTRALIA NA 114
p.Cys474Trp	c.1422T>G	11	474	EGF-like #04	Disulfide bonds 460-474 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 364 UKD05LON F0001 I07 Male Heterozygous U.K. NA 83
p.Cys534Tyr	c.1601G>A	13	534	cb EGF-like #04	Disulfide bonds 534-546 (C1)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 302 USA09FAR F0001 I01 Male Heterozygous U.S.A NA 69 2842 USA09FAR F0003 I01 Male Heterozygous U.S.A. NA 210
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 135 BEL01GHE F0005 I01 Male Heterozygous BELGIUM NA 89 112 UKD01EDI F0006 I01 Female Heterozygous U.K. NA 41
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.Arg565GlnfsX14	c.1694delG	13	565	cb EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3232 AUS01VIE F0001 I0001 Male Heterozygous AUSTRIA NA 271
p.Cys570Arg	c.1708T>C	13	570	cb EGF-like #04	Disulfide bonds 557-570 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 275 USA03STA F0051 I21 NA Heterozygous U.S.A Type II 57
p.Cys570Tyr	c.1709G>A	13	570	cb EGF-like #04	Disulfide bonds 557-570 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 384 BEL01GHE F0019 I2264 Male Heterozygous BELGIUM NA 89
p.Asn589Ser	c.1766A>G	14	589	cb EGF-like #05	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1905 ITA01FLO F0089 I0001 Female Heterozygous ITALIA NA 175
p.Cys598Trp	c.1794C>G	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 134 BEL01GHE F0006 I01 Female Heterozygous BELGIUM NA 89
p.Asp613ThrfsX12	c.1836delA	14	612	cb EGF-like #05	Ca2+ binding	Small rearrangement	Fr.	Stop at 624	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 102 BRA01SPA F0001 I01 Male Heterozygous BRAZIL NA 39
p.Asn615del	c.1843_1845delAAC	15	615	cb EGF-like #06	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 431 BEL01GHE F0058 I0472 Male Heterozygous BELGIUM NA 89
p.Arg627Cys	c.1879C>T	15	627	cb EGF-like #06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12 UKD01EDI F0001 I50 Female Heterozygous U.K. NA 7
p.Ala705Thr	c.2113G>A	16-17	705	TGFBP#02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 87 AUS01NAD F0001 I03 Male Heterozygous AUSTRALIA NA 36
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.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.Cys750Gly	c.2248T>G	18	750	cb EGF-like #07	Disulfide bonds 750-763 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13 UKD01EDI F0002 I39 Female Heterozygous U.K. NA 7
	c.IVS18-1G>A (c.2294-1G>A)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 316 AUS01NAD F0014 I13 Female Heterozygous AUSTRALIA NA 71
p.Glu863X	c.2586dup	21	863	Hybrid motif #02		Small rearrangement	Fr.	Stop at 863	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 434 BEL01GHE F0061 I2034 Male Heterozygous BELGIUM NA 89
p.Cys875Arg	c.2623T>C	21	875	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 496 FRA01BOU F0134 I0173 Male Heterozygous FRANCE NA 64
p.Val984Ile	c.2950G>A	24	984	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 150 GER02MUN F0001 I01 Male Heterozygous GERMANY NA 32
p.Gly985Arg	c.2953G>A	24	985	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 409 BEL01GHE F0044 I1318 Female Heterozygous BELGIUM NA 89
p.Cys996Arg	c.2986T>C	24	996	TGFBP#03	C in disulfide bonds 981-996	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 84 UKD03DUN F0003 I01 Male Heterozygous U.K. NA 67
p.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 331 GER01BER F0003 I15 Female Heterozygous GERMANY NA 80
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
	c.IVS24+1G>T (c.3082+1G>T)	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 340 GER01BER F0006 I54 Male Heterozygous GERMANY NA 80
p.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.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.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.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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 419 BEL01GHE F0054 I0877 Male Heterozygous BELGIUM NA 89
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.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 547 USA04NOR F0014 I3599 Male Heterozygous U.S.A NA 102
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
	c.IVS27+1G>A (c.3463+1G>A)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 192 FIN01HEL F0019 I01 Male Heterozygous FINLAND NA 48
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.Cys1171Trp	c.3513C>G	28	1171	cb EGF-like #14	Disulfide bonds 1159-1171 (C3)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 113 UKD01EDI F0008 I01 Male Heterozygous U.K. NA 41
p.Asn1173Lys	c.3519C>G	28	1173	cb EGF-like #14	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 114 UKD01EDI F0009 I01 Male Heterozygous U.K. NA 41
p.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.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.Asp1238Gly	c.3713A>G	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 334 GER01BER F0008 I35 Female Heterozygous GERMANY NA 80
p.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
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.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.Asp1404Tyr	c.4210G>T	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 115 UKD01EDI F0010 I01 Female Heterozygous U.K. NA 41
	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.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.Asp1487PhefsX2	c.4459insTTTTAG	35-36	1487	cb EGF-like #22	Ca2+ binding	Large rearrangement	Fr.	Stop at 1488	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1904 ITA01FLO F0088 I0001 Female Heterozygous ITALIA NA 175
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.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.Arg1539X	c.4615C>T	37	1539	TGFBP#04		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 338 GER01BER F0013 I27 Male Heterozygous GERMANY NA 80 389 BEL01GHE F0024 I1183 Female Heterozygous BELGIUM NA 89
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 279 UKD04OXF F0005 I05 NA Heterozygous U.K. Type I or II ? 58 391 BEL01GHE F0026 I2036 Male Heterozygous BELGIUM NA 89
p.Ala1569ProfsX12	c.4704delA	37	1568	TGFBP#04		Small rearrangement	Fr.	Stop at 1580	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 208 AUS01NAD F0009 I01 Male Heterozygous AUSTRALIA NA 56
p.Ala1569LysfsX13	c.4703_4704dup	37	1569	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1581	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 423 ITA01FLO F0005 I04 Female Heterozygous ITALIA NA 93
p.Cys1574TrpfsX15	c.4699_4721dup	37	1574	TGFBP#04	C in disulfide bonds 1549-1574	Small rearrangement	Fr.	Stop at 1588	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 519 BEL01GHE F0072 I0915 Male Heterozygous BELGIUM NA 89
p.Cys1610Gly	c.4828T>G	39	1610	cb EGF-like #23	Disulfide bonds 1610-1622 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 116 UKD01EDI F0011 I01 Female Heterozygous U.K. NA 41
p.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.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.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.Arg1692SerfsX21	c.5076_5082del	41	1692	TGFBP#05		Small rearrangement	Fr.	Stop at 1712	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 425 ITA01FLO F0007 I04 Female Heterozygous ITALIA NA 93
p.Cys1721Tyr	c.5162G>A	41	1721	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 148 UKD03DUN F0006 I01 Female Heterozygous U.K. NA 70
p.Glu1743_Asp1808del	c.5225_5422del	41-42	1742	TGFBP#05		Large rearrangement Deletion from exon 42 to 43	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 557 USA03STA F0064 I774 Female Heterozygous U.S.A NA 91
p.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.Arg1790Pro	c.5369G>C	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 407 BEL01GHE F0042 I1597 Male Heterozygous BELGIUM NA 89
p.Cys1818Tyr	c.5453G>A	44	1818	cb EGF-like #26	Disulfide bonds 1818-1833 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 100 BRA01SPA F0006 I01 Female Heterozygous BRAZIL NA 39
p.Glu1823X	c.5467G>T	44	1823	cb EGF-like #26		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 99 BRA01SPA F0007 I01 Male Heterozygous BRAZIL NA 39
p.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
	c.IVS46+1G>A (c.5788+1G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 420 UKD04OXF F0021 I01 Male Heterozygous U.K. NA 90
	c.IVS46+5G>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 92 USA03STA F0007 I0815 NA Heterozygous U.S.A Type IV 28 442 BEL01GHE F0068 I1316 Male Heterozygous BELGIUM NA 89
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.Gln2054X	c.6160C>T	49	2054	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 387 BEL01GHE F0022 I1639 Female Heterozygous BELGIUM NA 89
p.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.Cys2111Tyr	c.6332G>A	51	2111	TGFBP#06	C in disulfide bonds 2085-2111	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 119 UKD01EDI F0014 I01 Male Heterozygous U.K. NA 41
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 145 USA03STA F0011 I01 Female Heterozygous U.S.A NA 42
p.Asp2127Glu	c.6381T>A	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 23 FIN01HEL F0009 I01 Male Heterozygous FINLAND NA 10
p.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 367 UKD05LON F0004 I08 Male Heterozygous U.K. NA 83
p.Pro2154Arg	c.6461C>G	52	2154	cb EGF-like #32		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 428 BEL01GHE F0055 I1809 Female Heterozygous BELGIUM NA 89
p.Thr2167_Asp2206del	c.6497_6616del	52-53	2166	cb EGF-like #33	Ca2+ binding	Large rearrangement Deletion from exon 53 to 53	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 555 BEL01GHE F0013 I1539 Female Heterozygous BELGIUM NA 89
p.Glu2193X	c.6577G>T	53	2193	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 312 AUS01NAD F0023 I43 Female Heterozygous AUSTRALIA NA 114
p.Gly2195X	c.6583G>T	53	2195	cb EGF-like #33	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 390 BEL01GHE F0025 I1692 Female Heterozygous BELGIUM NA 89
	c.IVS53+1G>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.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.Cys2258Arg	c.6772T>C	55	2258	cb EGF-like #35	Disulfide bonds 2258-2274 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 120 UKD01EDI F0015 I01 Female Heterozygous U.K. NA 41
p.Cys2258Tyr	c.6773G>A	55	2258	cb EGF-like #35	Disulfide bonds 2258-2274 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 281 UKD04OXF F0007 I07 NA Heterozygous U.K. Type IV 58
p.Arg2282Trp	c.6844C>T	55	2282	cb EGF-like #35		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 132 BEL01GHE F0008 I01 Male Heterozygous BELGIUM NA 89 121 UKD01EDI F0016 I01 Male Heterozygous U.K. NA 41
	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.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.Tyr2466X	c.7398C>A	59	2466	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 386 BEL01GHE F0021 I2307 Male Heterozygous BELGIUM NA 89
p.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 3001 NET03LEI F0002 I0002 Female Homozygous TURKEY NA 270
p.Cys2489Arg	c.7465T>C	60	2489	cb EGF-like #39	Disulfide bonds 2489-2500 (C1)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 122 UKD01EDI F0017 I01 Female Heterozygous U.K. NA 41 2840 USA09FAR F0002 I01 Male Heterozygous U.S.A. NA 210
p.Cys2511Arg	c.7531T>C	60	2511	cb EGF-like #39	Disulfide bonds 2511-2522 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 126 FIN01HEL F0011 I01 Female Heterozygous FINLAND NA 10
p.Cys2581Phe	c.7742G>T	62	2581	cb EGF-like #41	Disulfide bonds 2571-2581 (C3)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 408 BEL01GHE F0043 I1398 Male Heterozygous BELGIUM NA 89
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 418 BEL01GHE F0053 I0803 Male Heterozygous BELGIUM NA 89
p.His2623Pro	c.7868A>C	63	2623	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 108 USA05HOU F0003 I01 NA Heterozygous U.S.A NA 24
p.Asn2624Lys	c.7872C>G	63	2624	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 380 BEL01GHE F0018 I1931 Female Heterozygous BELGIUM NA 89
p.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
	c.IVS63-2A>G (c.8052-2A>G)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 60 USA05HOU F0005 I01 NA Heterozygous U.S.A NA 24
p.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.Arg2776X	c.8326C>T	65	2776	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 38 UKD01EDI F0003 I58 Female Heterozygous U.K. NA 19
p.Glu2846ArgfsX5	c.8534dup	65	2845	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2850	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 659 FRA01BOU F0200 I0239 Male Heterozygous FRANCE NA 64