The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Myopia

    Request ID: 5-26

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Pro39Pro	c.117A>C	1	39	NH2 unique region		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1479 ITA01FLO F0009 I01 NA Heterozygous ITALIA NA 146
p.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.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 1918 UKD07WIL F0094 I0001 Male Heterozygous U.K. NA 178
	c.IVS2-7T>G (c.248-7T>G)	2-3	83	EGF-like #01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 314 AUS01NAD F0010 I10 Female Heterozygous AUSTRALIA NA 114
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 612 UKD05LON F0014 I01 Male Heterozygous U.K. NA 108 1664 CHI05HAN F0004 I0001 Male Heterozygous CHINA NA 154
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.Cys168Arg	c.502T>C	5	168	EGF-like#03	Disulfide bonds 168-177 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1662 CHI05HAN F0002 I0001 Female Heterozygous CHINA NA 154
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.Asp180His	c.538G>C	5-6	180	Hybrid module#01		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2122 ITA01FLO F0095 I0001 Female Heterozygous ITALIA NA 192
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 354 FRA01BOU F0142 I0181 Female Heterozygous FRANCE NA 64 1485 ITA01FLO F0015 I01 NA Heterozygous ITALIA NA 146
p.Gly214Ser	c.640G>A	6	214	Hybrid module#01		Small rearrangement	Ts	G->A	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2960 CHI08BEI F0004 I0001 Male Heterozygous CHINA NA 232 2961 CHI08BEI F0004 I0002 Female Heterozygous CHINA NA 232 2962 CHI08BEI F0004 I0003 Female Heterozygous CHINA NA 232 2963 CHI08BEI F0004 I0004 Female Heterozygous CHINA NA 232 2964 CHI08BEI F0004 I0005 Female Heterozygous CHINA NA 232 2965 CHI08BEI F0004 I0006 Male Heterozygous CHINA NA 232 2966 CHI08BEI F0004 I0007 Male Heterozygous CHINA NA 232 2967 CHI08BEI F0004 I0008 Male Heterozygous CHINA NA 232 2968 CHI08BEI F0004 I0009 Male Heterozygous CHINA NA 232
p.Trp217Gly	c.649T>G	6	217	Hybrid module#01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 20 FIN01HEL F0006 I01 Male Heterozygous FINLAND Type II 10
p.His219ProfsX111	c.656delA	6	219	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 579 USA03STA F0067 I807 NA Heterozygous U.S.A Type I 104
p.Arg240Cys	c.718C>T	6	240	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 614 UKD05LON F0016 I01 Male Heterozygous U.K. NA 108
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 3338 CHI17SHA F0001 I0001 Female Heterozygous CHINA NA 278 3340 CHI17SHA F0001 I0003 Female Heterozygous CHINA NA 278
p.Thr326ProfsX4	c.976delA	8	326	cb EGF-like #02		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 549 USA04NOR F0012 I3524 Female Heterozygous U.S.A NA 102
p.Thr354Ser	c.1061C>G	9	354	TGFBP#01	conserved AA in TGFBP	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3361 USA22DAL F0003 I0001 Female Heterozygous U.S.A. NA 285
p.Met356CysfsX39	c.1066delA	9	356	TGFBP#01	C in disulfide bonds 345-356	Small rearrangement	Fr.	Stop at 394	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1488 ITA01FLO F0018 I01 NA Heterozygous ITALIA NA 146
p.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1489 ITA01FLO F0019 I01 NA Heterozygous ITALIA NA 146
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.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.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
	c.IVS11+5G>A (c.1468+5G>A)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2998 NET01AMS F0008 I0001 Female Heterozygous NETHERLAND NA 212 2999 NET01AMS F0008 I0002 Male Heterozygous NETHERLAND NA 212
p.Cys499Arg	c.1495T>C	12	499	cb EGF-like #03	Disulfide bonds 499-513 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 268 USA03STA F0050 I09 NA Heterozygous U.S.A Type IV d 57
p.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.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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 616 UKD05LON F0018 I01 Female Heterozygous U.K. NA 108 1665 CHI05HAN F0005 I0001 Male Heterozygous CHINA NA 154
p.Asn548Ile	c.1643A>T	13	548	cb EGF-like #04	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6 USA01BAL F0007 I09 Male Heterozygous U.S.A Type IV 4
p.Cys570Arg	c.1708T>C	13	570	cb EGF-like #04	Disulfide bonds 557-570 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 275 USA03STA F0051 I21 NA Heterozygous U.S.A Type II 57
p.Cys576Tyr	c.1727G>A	14	576	cb EGF-like #05	Disulfide bonds 576-587 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1498 ITA01FLO F0027 I01 NA Heterozygous ITALIA NA 146
p.Cys587Arg	c.1759T>C	14	587	cb EGF-like #05	Disulfide bonds 576-587 (C3)	Small rearrangement	Ts	T->C	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2953 CHI14CHE F0001 I0001 Female Heterozygous CHINA NA 231 2954 CHI14CHE F0001 I0002 Male Heterozygous CHINA NA 231 2955 CHI14CHE F0001 I0003 Female Heterozygous CHINA NA 231 2956 CHI14CHE F0001 I0004 Male Heterozygous CHINA NA 231 2957 CHI14CHE F0001 I0005 Female Heterozygous CHINA NA 231 2958 CHI14CHE F0001 I0006 Female Heterozygous CHINA NA 231
p.Cys587Tyr	c.1760G>A	14	587	cb EGF-like #05	Disulfide bonds 576-587 (C3)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 76 GER01BER F0001 I03 Female Heterozygous GERMANY NA 31 449 GER01BER F0026 I03 Female Heterozygous GERMANY NA 95
p.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.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.Asp613ThrfsX12	c.1836delA	14	612	cb EGF-like #05	Ca2+ binding	Small rearrangement	Fr.	Stop at 624	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 102 BRA01SPA F0001 I01 Male Heterozygous BRAZIL NA 39
p.Arg627Cys	c.1879C>T	15	627	cb EGF-like #06		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12 UKD01EDI F0001 I50 Female Heterozygous U.K. NA 7 1666 CHI05HAN F0006 I0001 Female Heterozygous CHINA NA 154
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.Cys637Tyr	c.1910G>A	15	637	cb EGF-like #06	Disulfide bonds 623-637 (C4)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3185 CHI15TIA F0002 I0002 Male Heterozygous CHINA NA 248 3186 CHI15TIA F0002 I0003 Female Heterozygous CHINA NA 248
p.Cys652Tyr	c.1955G>A	15	652	cb EGF-like #06	Disulfide bonds 639-652 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 618 UKD05LON F0020 I01 Female Heterozygous U.K. NA 108
p.Met657AlafsX23	c.1969_1970delAT	16	657	TGFBP#02		Small rearrangement	Fr.	Stop at 679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 504 FRA01BOU F0148 I0187 Male Heterozygous FRANCE NA 64
p.Cys661Tyr	c.1982G>A	16	661	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 456 GER01BER F0029 I62 Female Heterozygous GERMANY NA 95
p.Phe675ValfsX42	c.2023_2026delTTTG	16	675	TGFBP#02		Small rearrangement	Fr.	Stop at 716	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1730 UKD07WIL F0014 I0001 Male Heterozygous U.K. NA 157
p.Ser681Tyr	c.2042C>A	16	681	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 454 GER01BER F0030 I31 Male Heterozygous GERMANY NA 95
p.Cys683Arg	c.2047T>C	16	683	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 455 GER01BER F0031 I59 Female Heterozygous GERMANY NA 95
p.Cys699Ser	c.2096G>C	16	699	TGFBP#02	C in disulfide bonds 684-699	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1663 CHI05HAN F0003 I0001 Female Heterozygous CHINA NA 154
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.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
	c.IVS17-1G>T (c.2168-1G>T)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1911 CHI09GUA F0001 I0001 Male Heterozygous CHINA NA 179
	c.IVS17-2A>G (c.2168-2A>G)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 475 GER01BER F0035 I02 Female Heterozygous GERMANY NA 95
p.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.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
	c.IVS18-1G>C (c.2294-1G>C)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 190 AUS01NAD F0005 I01 Female Heterozygous AUSTRALIA NA 114
p.Cys776Gly	c.2326T>G	19	776	cb EGF-like #08	Disulfide bonds 776-790 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 461 GER01BER F0038 I37 Male Heterozygous GERMANY NA 95
p.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.Cys853AlafsX19	c.2557delT	21	853	Hybrid motif #02		Small rearrangement	Fr.	Stop at 871	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 628 FRA01BOU F0212 I0251 Male Heterozygous FRANCE NA 64
p.Gln855X	c.2563C>T	21	855	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 633 FRA01BOU F0259 I0298 Female Heterozygous FRANCE NA 64
p.Gly880Ser	c.2638G>A	21	880	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 601 GER03HAN F0010 I06 NA Heterozygous GERMANY NA 107
p.Met941LeufsX19	c.2820_2823delAATG	23	940	cb EGF-like #10	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 959	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 318 JAP05YON F0002 I0001 Male Heterozygous JAPAN NA 79
p.Val984Ile	c.2950G>A	24	984	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 150 GER02MUN F0001 I01 Male Heterozygous GERMANY NA 32
p.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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 331 GER01BER F0003 I15 Female Heterozygous GERMANY NA 80 341 GER01BER F0004 I60 Female Heterozygous GERMANY NA 80
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.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.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.Asp1070Gly	c.3209A>G	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 355 FRA01BOU F0189 I0228 Male Heterozygous FRANCE NA 64
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.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 269 USA03STA F0053 I14 NA Heterozygous U.S.A Type IV 57
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 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.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.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.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.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.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.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 2943 USA03STA F0087 I0001 Male Heterozygous U.S.A. NA 228
p.Asn1173Lys	c.3519C>G	28	1173	cb EGF-like #14	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 114 UKD01EDI F0009 I01 Male Heterozygous U.K. NA 41
p.Gly1176ArgfsX17	c.3525dup	28	1176	cb EGF-like #14	Domain-domain packing	Small rearrangement	Fr.	Stop at 1192	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 584 USA03STA F0072 I857 NA Heterozygous U.S.A Type I 104
p.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.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.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.Cys1223Tyr	c.3668G>A	29	1223	cb EGF-like #15	Disulfide bonds 1223-1236 (C5)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 73 USA01BAL F0029 I01 Female Heterozygous U.S.A NA 29 39 UKD02OXF F0002 I2521 Female Heterozygous U.K. NA 20
p.Cys1236Arg	c.3706T>C	29	1236	cb EGF-like #15	Disulfide bonds 1223-1236 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 983 NET01AMS F0007 I01 Male Heterozygous NETHERLAND NA 126
p.Asp1238Gly	c.3713A>G	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 334 GER01BER F0008 I35 Female Heterozygous GERMANY NA 80
p.Cys1242Tyr	c.3725G>A	30	1242	cb EGF-like #16	Disulfide bonds 1242-1254 (C1)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 21 FIN01HEL F0007 I01 Male Heterozygous FINLAND Type IV 10 266 USA03STA F0055 I02 NA Heterozygous U.S.A Type IV 57
p.Cys1249Ser	c.3746G>C	30	1249	cb EGF-like #16	Disulfide bonds 1249-1263 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3 USA01BAL F0003 I04 Female Heterozygous U.S.A Type IV 2
p.Cys1254Ser	c.3761G>C	30	1254	cb EGF-like #16	Disulfide bonds 1242-1254 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 528 KOR01SEO F0001 I01 Male Heterozygous S. KOREA NA 100
p.Lys1300Glu	c.3898A>G	31	1300	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 336 GER01BER F0009 I01 Male Heterozygous GERMANY NA 80
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
	c.IVS31+1G>A (c.3964+1G>A)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 USA02OMA F0002 I896 NA Heterozygous U.S.A Type IV 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.Ala1337Pro	c.4009G>C	32	1337	cb EGF-like #18		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 151 BEL01GHE F0001 I01 Female Heterozygous BELGIUM NA 89
p.Cys1361Tyr	c.4082G>A	32	1361	cb EGF-like #18	Disulfide bonds 1350-1361 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 276 USA03STA F0057 I24 NA Heterozygous U.S.A Type IV d 57
p.Leu1364_Asp1404del	c.4088_4210del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 33	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1880 UKD08SOU F0002 I0001 Female Heterozygous U.K. NA 168
p.Gly1394AspfsX19	c.4179delA	33	1393	cb EGF-like #19		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 586 USA03STA F0074 I751 NA Heterozygous U.S.A Type II 104
p.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
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.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.Gly1418AlafsX55	c.4253_4259del	34	1418	cb EGF-like #20	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1472	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2128 USA05HOU F0020 I0001 Female Heterozygous U.S.A. NA 193
p.Pro1424Ala	c.4270C>G	34	1424	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 107 AUS01NAD F0008 I01 Male Heterozygous AUSTRALIA NA 114 3322 FRA04DIJ F0004 I0001 Male Heterozygous FRANCE NA 256
	c.IVS34+1G>A (c.4336+1G>A)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 489 FRA01BOU F0109 I0147 Female Heterozygous FRANCE NA 64
p.Pro1453ArgfsX22	c.4356delT	35	1452	cb EGF-like #21		Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 495 FRA01BOU F0152 I0191 Female Heterozygous FRANCE NA 64
p.Cys1497Ser	c.4490G>C	36	1497	cb EGF-like #22	Disulfide bonds 1497-1511 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 98 BRA01SPA F0005 I01 Female Heterozygous BRAZIL NA 39
p.Cys1513Arg	c.4537T>C	36	1513	cb EGF-like #22	Disulfide bonds 1513-1526 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 22 FIN01HEL F0008 I01 Female Heterozygous FINLAND NA 10
p.Arg1523X	c.4567C>T	36	1523	cb EGF-like #22		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 494 FRA01BOU F0127 I0165 Female Heterozygous FRANCE NA 64 587 USA03STA F0075 I997 NA Heterozygous U.S.A Type II 104
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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1667 CHI05HAN F0007 I0001 Female Heterozygous CHINA NA 154
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 1518 ITA01FLO F0046 I01 NA Heterozygous ITALIA NA 146
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1519 ITA01FLO F0047 I01 NA Heterozygous ITALIA NA 146
p.Cys1564Ser	c.4691G>C	37	1564	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2188 USA01BAL F0038 I0001 Female Heterozygous U.S.A. NA 206
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.Trp1570Cys	c.4710G>C	37	1570	TGFBP#04		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2186 USA01BAL F0036 I0002 Male Heterozygous U.S.A. NA 206
p.Cys1577Gly	c.4729T>G	37	1577	TGFBP#04	C in disulfide bonds 1563-1577	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2189 USA01BAL F0039 I0001 Male Heterozygous U.S.A. NA 206
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
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.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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 273 USA03STA F0059 I17 NA Heterozygous U.S.A Type II 57 1521 ITA01FLO F0049 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
p.Arg1692_Tyr1699del	c.5074_5097del	41	1692	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 596 FRA02PAR F0001 I0001 Male Heterozygous FRANCE NA 106
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.Asn1713IlefsX23	c.5134_5137dup	41	1713	TGFBP#05	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1735	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9 USA01BAL F0009 I03 Male Heterozygous U.S.A NA 4
p.Cys1721Tyr	c.5162G>A	41	1721	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 148 UKD03DUN F0006 I01 Female Heterozygous U.K. NA 70
p.Glu1743_Asp1808del	c.5225_5422del	41-42	1742	TGFBP#05		Large rearrangement Deletion from exon 42 to 43	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 557 USA03STA F0064 I774 Female Heterozygous U.S.A NA 91
p.Asn1779MetfsX114	c.5336delA	43	1779	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1525 ITA01FLO F0053 I01 NA Heterozygous ITALIA NA 146
p.Cys1782Arg	c.5344T>C	43	1782	cb EGF-like #25	Disulfide bonds 1770-1782 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 511 FRA01BOU F0143 I0182 Male Heterozygous FRANCE NA 64
p.Arg1790Pro	c.5369G>C	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 466 GER01BER F0043 I43 Male Heterozygous GERMANY NA 95
p.Cys1793Trp	c.5379T>G	43	1793	cb EGF-like #25	Disulfide bonds 1793-1806 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 311 AUS01NAD F0022 I32 Female Heterozygous AUSTRALIA NA 114
p.Cys1806Tyr	c.5417G>A	43	1806	cb EGF-like #25	Disulfide bonds 1793-1806 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 560 USA04NOR F0017 I3696 Female Heterozygous U.S.A NA 102
p.Cys1806Ser	c.5417G>C	43	1806	cb EGF-like #25	Disulfide bonds 1793-1806 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 465 GER01BER F0044 I05 Male Heterozygous GERMANY NA 95
	c.IVS43-1G>T (c.5423-1G>T)	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 476 GER01BER F0045 I19 Female Heterozygous GERMANY NA 95
p.Glu1811Lys	c.5431G>A	44	1811	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1527 ITA01FLO F0055 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	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 FRA01BOU F0168 I0207 Male Heterozygous FRANCE NA 64
p.Gln1854X	c.5560C>T	45	1854	cb EGF-like #27		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 486 FRA01BOU F0128 I0166 Male Heterozygous FRANCE NA 64
p.Glu1894Lys	c.5680G>A	46	1894	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1533 ITA01FLO F0061 I01 NA Heterozygous ITALIA NA 146
p.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
	c.IVS46+5G>A (c.5788+5G>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 92 USA03STA F0007 I0815 NA Heterozygous U.S.A Type IV 28
p.Val1931del	c.5791_5793delGTT	47	1931	cb EGF-like #29	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 467 GER01BER F0046 I52 Female Heterozygous GERMANY NA 95
p.Cys1934Gly	c.5800T>G	47	1934	cb EGF-like #29	Disulfide bonds 1934-1947 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1536 ITA01FLO F0064 I01 NA Heterozygous ITALIA NA 146
p.Cys1942X	c.5826C>A	47	1942	cb EGF-like #29	Disulfide bonds 1942-1956 (C2)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 589 USA03STA F0077 I768 NA Heterozygous U.S.A NA 104
p.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.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.Cys1998Tyr	c.5993G>A	48	1998	cb EGF-like #30	Disulfide bonds 1984-1998 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 468 GER01BER F0047 I16 Female Heterozygous GERMANY NA 95
p.Cys2038Phe	c.6113G>T	49	2038	cb EGF-like #31	Disulfide bonds 2024-2038 (C4)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 488 FRA01BOU F0164 I0203 Female Heterozygous FRANCE NA 64
p.Cys2053Phe	c.6158G>T	49	2053	cb EGF-like #31	Disulfide bonds 2040-2053 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 278 USA03STA F0061 I25 NA Heterozygous U.S.A Type I 57
	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.Arg2057X	c.6169C>T	50	2057	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1538 ITA01FLO F0066 I01 NA Heterozygous ITALIA NA 146
p.Cys2061Phe	c.6182G>T	50	2061	TGFBP#06	C in disulfide bonds 2061-2083	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1912 CHI09GUA F0002 I0001 Female Heterozygous CHINA NA 179
p.His2078SerfsX27	c.6231dup	50	2078	TGFBP#06	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2104	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 469 GER01BER F0025 I30 Male Heterozygous GERMANY NA 95
p.Cys2099Trp	c.6297C>G	50	2099	TGFBP#06	C in disulfide bonds 2084-2099	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 118 UKD01EDI F0013 I01 Male Heterozygous U.K. NA 41
p.Thr2101Lys	c.6302C>A	50	2101	TGFBP#06		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 357 FRA01BOU F0122 I0160 Male Heterozygous FRANCE NA 64
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 145 USA03STA F0011 I01 Female Heterozygous U.S.A NA 42 1542 ITA01FLO F0070 I01 NA Heterozygous ITALIA NA 146
p.Asp2127Val	c.6380A>T	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2124 ITA01FLO F0097 I0001 Male Heterozygous ITALIA NA 192
p.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.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.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
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 499 FRA01BOU F0154 I0193 Female Heterozygous FRANCE NA 64
p.Cys2221Arg	c.6661T>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 271 USA03STA F0062 I15 NA Heterozygous U.S.A Type IV 57
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.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.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
	c.IVS56+1G>A (c.6997+1G>A)	56-57	2333	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 94 USA03STA F0009 I749 NA Heterozygous U.S.A Type IV 28
p.Arg2335Trp	c.7003C>T	57	2335	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 474 GER01BER F0052 I63 Female Heterozygous GERMANY NA 95
p.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.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
	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.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.Glu2447Lys	c.7339G>A	59	2447	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 31 FIN01HEL F0012 I01 Male Heterozygous FINLAND NA 13
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.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.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.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.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
	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.Cys2617Trp	c.7851C>G	63	2617	cb EGF-like #42	Disulfide bonds 2617-2631 (C2)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 512 FRA01BOU F0151 I0190 Female Heterozygous FRANCE NA 64
p.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.Gly2627Arg	c.7879G>A	63	2627	cb EGF-like #42	Domain-domain packing	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 32 FIN01HEL F0013 I01 Female Heterozygous FINLAND Type III 14
p.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.Gly2669Val	c.8006G>T	63	2669	cb EGF-like #43	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 669 FRA01BOU F0175 I0214 Male Heterozygous FRANCE NA 145
	c.IVS63+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	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.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.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.Lys2719ThrfsX12	c.8155_8174del	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2730	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2859 AUS02WES F0065 I0001 Male Heterozygous IRELAND NA 221
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1560 ITA01FLO F0086 I01 NA Heterozygous ITALIA NA 146 2184 FRA04DIJ F0005 I0001 Male Heterozygous FRANCE NA 256 2192 ITA01FLO F0103 I0001 Male Heterozygous ITALIA NA 97 3356 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282
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.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