The UMD-FBN1 mutations database
Splice mutations (<10 bp from exon) (317 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.IVS1+2dup2dupT (c.164+2dup2dupT)	1	1	Signal peptide		Small rearrangement		dup2dupT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2194 FRA01BOU F0450 I0487 Female Heterozygous FRANCE NA 207
	c.IVS1+1G>A (c.164+1G>A)	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 887 UKD05LON F0095 I01 NA Heterozygous U.K. NA 96 2298 FRA01BOU F0554 I0591 Male Heterozygous FRANCE NA 207 2323 FRA01BOU F0579 I0616 Male Heterozygous FRANCE NA 207
	c.IVS1+1G>T (c.164+1G>T)	1-2	55	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 3295 NET05GRO F0047 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS1-1G>A (c.165-1G>A)	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 609 GER03HAN F0021 I01 Female Heterozygous GERMANY NA 107
	c.IVS1-1G>T (c.165-1G>T)	1-2	55	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 2374 FRA01BOU F0631 I0668 Female Heterozygous FRANCE NA 207
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	21
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10 USA01BAL F0010 I08 NA Heterozygous U.S.A NA 4 287 UKD04OXF F0001 I01 NA Heterozygous U.K. Type I or II ? 58 319 JAP05YON F0003 I0001 Male Heterozygous JAPAN NA 79 527 USA05HOU F0015 I01 Male Heterozygous U.S.A Type II 99 578 USA03STA F0066 I1075 NA Heterozygous U.S.A NA 104 888 UKD05LON F0096 I01 NA Heterozygous U.K. NA 96 1593 FRA01BOU F0312 I0351 Male Heterozygous FRANCE NA 145 1708 NOR01OSL F0038 I0001 NA Heterozygous NORWAY NA 148 1916 UKD07WIL F0092 I0001 Male Heterozygous U.K. NA 157 1917 UKD07WIL F0093 I0001 Male Heterozygous U.K. NA 178 1918 UKD07WIL F0094 I0001 Male Heterozygous U.K. NA 178 1983 TAI01TAI F0002 I0001 NA Heterozygous TAIWAN NA 183 2045 SWI01ZUR F0008 I01 NA Heterozygous SWITZERLAND NA 188 2185 FRA04DIJ F0001 I0001 Female Heterozygous FRANCE NA 256 2195 FRA01BOU F0451 I0488 Male Heterozygous FRANCE NA 207 2342 FRA01BOU F0598 I0635 Female Heterozygous FRANCE NA 207 2380 FRA01BOU F0637 I0674 Female Heterozygous FRANCE NA 207 3149 CHI08BEI F0020 I0001 Female Heterozygous CHINA NA 244 3150 CHI08BEI F0020 I0002 Male Heterozygous CHINA NA 244 3151 CHI08BEI F0020 I0003 Female Heterozygous CHINA NA 244 3152 CHI08BEI F0020 I0004 Male Heterozygous CHINA NA 244
	c.IVS2+3insT (c.247+3insT)	2-3	83	EGF-like #01		Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1352 FRA01BOU F0378 I0416 Female Heterozygous FRANCE NA 145
	c.IVS2-3C>G (c.248-3C>G)	2-3	83	EGF-like #01		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 441 BEL01GHE F0067 I1314 Female Heterozygous BELGIUM NA 89 1984 TAI01TAI F0003 I0001 NA Heterozygous TAIWAN NA 183
	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
	c.IVS3-2A>G (c.347-2A>G)	3-4	116	EGF-like #02		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2046 SWI01ZUR F0009 I01 NA Heterozygous SWITZERLAND NA 188 2224 FRA01BOU F0480 I0517 Female Heterozygous FRANCE NA 207
	c.IVS4-2A>G (c.443-2A>G)	4-5	148	EGF-like#03		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 814 BEL01GHE F0158 I01 NA Heterozygous BELGIUM NA 122
	c.IVS5-1G>A (c.539-1G>A)	5-6	180	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1462 FRA01BOU F0410 I0448 Female Heterozygous FRANCE NA 145
	c.IVS6-1G>A (c.737-1G>A)	6-7	246	cb EGF-like #01	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 195 FRA01BOU F0120 I0158 Male Heterozygous FRANCE NA 64 3299 NET05GRO F0051 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS8-1G>C (c.989-1G>C)	8-9	330	TGFBP#01	conserved AA in TGFBP	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 757 BEL01GHE F0082 I01 NA Heterozygous BELGIUM NA 121 3285 NET05GRO F0037 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS9-2A>G (c.1148-2A>G)	9-10	383	TGFBP#01		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1368 UKD05LON F0132 I01 NA Heterozygous U.K. NA 96
	c.IVS10+1G>A (c.1327+1G>A)	10-11	443	Proline-rich		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2996 UKD05LON F0201 I0001 NA Heterozygous U.K. NA 238
	c.IVS11+1G>C (c.1468+1G>C)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2261 FRA01BOU F0516 I0553 Female Heterozygous FRANCE NA 207
	c.IVS11+2T>C (c.1468+2T>C)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 526 SWI01ZUR F0001 I01 NA Heterozygous SWITZERLAND NA 98
	c.IVS11+2T>G (c.1468+2T>G)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3302 NET05GRO F0054 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS11+4C>T (c.1468+4C>T)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2239 FRA01BOU F0495 I0532 Female Heterozygous FRANCE NA 207
	c.IVS11+5G>A (c.1468+5G>A)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 227 USA03STA F0015 I01 NA Heterozygous U.S.A NA 54 1153 UKD05LON F0116 I01 NA Heterozygous U.K. NA 96 1432 UKD05LON F0195 I01 NA Heterozygous U.K. NA 96 1788 UKD07WIL F0072 I0001 NA Heterozygous U.K. NA 157 2348 FRA01BOU F0604 I0641 Female Heterozygous FRANCE NA 207 2891 BEL01GHE F0200 I0001 NA Heterozygous BELGIUM NA 225 2998 NET01AMS F0008 I0001 Female Heterozygous NETHERLAND NA 212 2999 NET01AMS F0008 I0002 Male Heterozygous NETHERLAND NA 212 3054 JAP02TOK F0031 I0001 NA Heterozygous JAPAN NA 229 3303 NET05GRO F0055 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS13+1G>T (c.1714+1G>T)	13-14	572	cb EGF-like #05	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1081 AUS02WES F0051 I01 NA Heterozygous AUSTRALIA NA 134
	c.IVS13+2T>C (c.1714+2T>C)	13-14	572	cb EGF-like #05	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1158 UKD05LON F0120 I01 NA Heterozygous U.K. NA 96
	c.IVS13-1G>T (c.1715-1G>T)	13-14	572	cb EGF-like #05	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2591 FRA01BOU F0848 I0884 Male Heterozygous FRANCE NA 207
	c.IVS14+1G>A (c.1837+1G>A)	14-15	613	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 761 BEL01GHE F0086 I01 NA Heterozygous BELGIUM NA 121
	c.IVS14+1G>T (c.1837+1G>T)	14-15	613	cb EGF-like #06	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1441 FRA01BOU F0383 I0421 Male Heterozygous FRANCE NA 145
	c.IVS14+5G>A (c.1837+5G>A)	14-15	613	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 315 AUS01NAD F0013 I29 Male Heterozygous AUSTRALIA NA 114 1990 TAI01TAI F0009 I0001 NA Heterozygous TAIWAN NA 183 2713 FRA01BOU F0979 I1015 Male Heterozygous FRANCE NA 207
	c.IVS14-1G>A (c.1838-1G>A)	14-15	613	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 762 BEL01GHE F0087 I01 NA Heterozygous BELGIUM NA 121
	c.IVS15+1G>C (c.1960+1G>C)	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1051 BEL01GHE F0177 I01 NA Heterozygous FRANCE NA 122
	c.IVS15+2T>C (c.1960+2T>C)	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1040 BEL01GHE F0166 I01 NA Heterozygous BELGIUM NA 122
	c.IVS15-1delG (c.1961-1delG)	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Tv	delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3234 AUS01VIE F0002 I0001 Female Heterozygous AUSTRIA NA 271
	c.IVS15-1G>A (c.1961-1G>A)	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2416 FRA01BOU F0674 I0711 Male Heterozygous FRANCE NA 207
	c.IVS15-3T>G (c.1961-3T>G)	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3055 JAP02TOK F0032 I0001 NA Heterozygous JAPAN NA 229
	c.IVS16+3A>C (c.2113+3A>C)	16-17	705	TGFBP#02		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3056 JAP02TOK F0033 I0001 NA Heterozygous JAPAN NA 229
	c.IVS16-1G>C (c.2114-1G>C)	16-17	705	TGFBP#02		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 439 BEL01GHE F0065 I0795 Female Heterozygous BELGIUM NA 89
	c.IVS16-2A>G (c.2114-2A>G)	16-17	705	TGFBP#02		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1731 UKD07WIL F0015 I0001 Male Heterozygous U.K. NA 157
	c.IVS17+2T>C (c.2167+2T>C)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3347 GER07COL F0004 I0001 Male Heterozygous SAUDI ARABIA NA 281
	c.IVS17-1G>A (c.2168-1G>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 571 UKD04OXF F0016 I36 NA Heterozygous U.K. NA 88
	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	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 475 GER01BER F0035 I02 Female Heterozygous GERMANY NA 95 2454 FRA01BOU F0710 I0747 Male Heterozygous FRANCE NA 207 2472 FRA01BOU F0729 I0766 Male Heterozygous FRANCE NA 207
	c.IVS18+1G>A (c.2293+1G>A)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 889 UKD05LON F0097 I01 NA Heterozygous U.K. NA 96 2268 FRA01BOU F0523 I0560 Female Heterozygous FRANCE NA 207
	c.IVS18+1G>C (c.2293+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 3057 JAP02TOK F0034 I0001 NA Heterozygous JAPAN NA 229
	c.IVS18+2T>C (c.2293+2T>C)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 90 USA03STA F0005 I835 NA Heterozygous U.S.A Type IV 28
	c.IVS18+5G>C (c.2293+5G>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 2635 FRA01BOU F0894 I0930 Male Heterozygous FRANCE NA 207
	c.IVS18-10 (c.2294-10)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement			1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1947 CHI01HKO F0025 I0001 NA Heterozygous CHINA NA 181
	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
	c.IVS18-2A>G (c.2294-2A>G)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2626 FRA01BOU F0885 I0921 Male Heterozygous FRANCE NA 207
	c.IVS19-1G>A (c.2420-1G>A)	19-20	807	cb EGF-like #09	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3287 NET05GRO F0039 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS19-2A>T (c.2420-2A>T)	19-20	807	cb EGF-like #09	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1097 GER03HAN F0032 I01 NA Heterozygous GERMANY NA 133
	c.IVS20+1G>A (c.2539+1G>A)	20-21	847	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 572 UKD04OXF F0017 I21 NA Heterozygous U.K. NA 88
	c.IVS21+1G>A (c.2677+1G>A)	21-22	893	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2314 FRA01BOU F0570 I0607 Female Heterozygous FRANCE NA 207
	c.IVS21+5G>A (c.2677+5G>A)	21-22	893	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1998 TAI01TAI F0017 I0001 NA Heterozygous TAIWAN NA 183
	c.IVS21-6T>G (c.2678-6T>G)	21-22	893	Hybrid motif #02		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 779 BEL01GHE F0140 I01 NA Heterozygous BELGIUM NA 122
	c.IVS22+1G>A (c.2728+1G>A)	22-23	910	cb EGF-like #10	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 349 UKD03DUN F0013 I01 NA Heterozygous U.K. NA 84 1318 FRA01BOU F0397 I0435 Female Heterozygous FRANCE NA 145 3140 CHI08BEI F0010 I0001 Male Heterozygous CHINA NA 244
	c.IVS22+3A>G (c.2728+3A>G)	22-23	910	cb EGF-like #10	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 915 ITA02PAV F0029 I01 Male Heterozygous ITALIA NA 125
	c.IVS23+1G>A (c.2854+1G>A)	23-24	952	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3238 AUS01VIE F0005 I0001 Female Heterozygous AUSTRIA NA 271
	c.IVS23+1G>C (c.2854+1G>C)	23-24	952	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2743 FRA01BOU F1011 I1047 Female Heterozygous FRANCE NA 207
	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
	c.IVS24-2A>C (c.3083-2A>C)	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1958 GER03HAN F0070 I0010 NA Heterozygous GERMANY NA 182
	c.IVS24-8T>G (c.3083-8T>G)	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3121 GER03HAN F0099 I0001 Female Heterozygous GERMANY NA 243
	c.IVS25+1G>A (c.3208+1G>A)	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1739 UKD07WIL F0023 I0001 NA Heterozygous U.K. NA 157
	c.IVS25+5G>T (c.3208+5G>T)	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 19 FIN01HEL F0005 I01 Female Heterozygous FINLAND NA 10 1134 GER01BER F0070 I0001 NA Heterozygous GERMANY NA 129
	c.IVS25-2A>G (c.3209-2A>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 1378 UKD05LON F0141 I01 NA Heterozygous U.K. NA 96
	c.IVS26+1G>C (c.3337+1G>C)	26-27	1113	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1101 GER03HAN F0036 I01 NA Heterozygous GERMANY NA 133
	c.IVS26-2A>G (c.3338-2A>G)	26-27	1113	cb EGF-like #13	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1080 AUS02WES F0050 I01 NA Heterozygous AUSTRALIA NA 134
	c.IVS27+1G>A (c.3463+1G>A)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 192 FIN01HEL F0019 I01 Male Heterozygous FINLAND NA 48
	c.IVS27+3A>G (c.3463+3A>G)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1079 AUS02WES F0049 I01 NA Heterozygous AUSTRALIA NA 134
	c.IVS27-1G>A (c.3464-1G>A)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 502 FRA01BOU F0126 I0164 Female Heterozygous FRANCE NA 64 3288 NET05GRO F0040 I0001 NA Heterozygous NETHERLAND NA 272 3345 GER07COL F0002 I0001 Male Heterozygous SAUDI ARABIA NA 281
	c.IVS27-6C>A (c.3464-6C>A)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3305 NET05GRO F0057 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS28+1G>T (c.3589+1G>T)	28-29	1197	cb EGF-like #15	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2394 FRA01BOU F0651 I0688 Male Heterozygous FRANCE NA 207
	c.IVS29+1G>C (c.3712+1G>C)	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Tv	G->C	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 707 AUS02WES F0021 I01 NA Heterozygous AUSTRALIA NA 114 1133 AUS02WES F0061 I01 Female Heterozygous AUSTRALIA NA 134 1582 FRA01BOU F0248 I0287 Male Heterozygous FRANCE NA 145
	c.IVS29+2T>C (c.3712+2T>C)	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1743 UKD07WIL F0027 I0001 NA Heterozygous U.K. NA 157
	c.IVS29+4A>T (c.3712+4A>T)	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1670 CHI06FUJ F0002 I0001 NA Heterozygous CHINA NA 156
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 752 CAN01TOR F0003 I01 Male Heterozygous CANADA NA 123 2846 CAN01TOR F0005 I0001 Male Heterozygous HUNGARY NA 214
	c.IVS30+1G>C (c.3838+1G>C)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1279 FRA01BOU F0210 I0249 Male Heterozygous FRANCE NA 145
	c.IVS30+3A>T (c.3838+3A>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 708 AUS02WES F0022 I01 NA Heterozygous AUSTRALIA NA 114
	c.IVS30-1G>T (c.3839-1G>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 USA03STA F0006 I1121 NA Heterozygous U.S.A Type IV 28
	c.IVS31+1G>A (c.3964+1G>A)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 USA02OMA F0002 I896 NA Heterozygous U.S.A Type IV 17 197 GER01BER F0002 I0775 Male Heterozygous GERMANY NA 52
	c.IVS31+1G>C (c.3964+1G>C)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 350 UKD03DUN F0014 I01 NA Heterozygous U.K. NA 84
	c.IVS31-1G>T (c.3965-1G>T)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1150 UKD05LON F0113 I01 NA Heterozygous U.K. NA 96
	c.IVS31-2A>G (c.3965-2A>G)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 493 FRA01BOU F0185 I0224 Male Heterozygous U.S.A. NA 137
	c.IVS31-2A>T (c.3965-2A>T)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 35 USA02OMA F0003 I497 Female Heterozygous U.S.A NA 17
	c.IVS31-3C>G (c.3965-3C>G)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1335 FRA01BOU F0339 I0377 Female Heterozygous FRANCE NA 145
	c.IVS32+1G>A (c.4087+1G>A)	32-33	1363	cb EGF-like #19	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1300 FRA01BOU F0389 I0427 Female Heterozygous FRANCE NA 145
	c.IVS32+3G>C (c.4087+3G>C)	32-33	1363	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2118 KOR01SEO F0039 I0001 NA Heterozygous S. KOREA NA 189
	c.IVS32+4A>G (c.4087+4A>G)	32-33	1363	cb EGF-like #19	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 928 ITA02PAV F0042 I01 NA Heterozygous ITALIA NA 125
	c.IVS33+1delG (c.4210+1delG)	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 931 ITA02PAV F0045 I01 NA Heterozygous ITALIA NA 125
	c.IVS33+1G>A (c.4210+1G>A)	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2550 FRA01BOU F0809 I0845 Male Heterozygous FRANCE NA 207
	c.IVS33+1G>T (c.4210+1G>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 1155 UKD05LON F0118 I01 NA Heterozygous U.K. NA 96
	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
	c.IVS34+1G>A (c.4336+1G>A)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 489 FRA01BOU F0109 I0147 Female Heterozygous FRANCE NA 64 2226 FRA01BOU F0482 I0519 Female Heterozygous FRANCE NA 207 2330 FRA01BOU F0586 I0623 Female Heterozygous FRANCE NA 207
	c.IVS34+1G>T (c.4336+1G>T)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 933 ITA02PAV F0047 I01 NA Heterozygous ITALIA NA 125
	c.IVS34-1G>A (c.4337-1G>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 3058 JAP02TOK F0035 I0001 NA Heterozygous JAPAN NA 229
	c.IVS34-1G>C (c.4337-1G>C)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1391 UKD05LON F0154 I01 NA Heterozygous U.K. NA 96 1948 CHI01HKO F0026 I0001 NA Heterozygous CHINA NA 181
	c.IVS34-1G>T (c.4337-1G>T)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2345 FRA01BOU F0601 I0638 Female Heterozygous FRANCE NA 207 2754 FRA01BOU F1022 I1058 Female Heterozygous FRANCE NA 207
	c.IVS34-2A>G (c.4337-2A>G)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2577 FRA01BOU F0835 I0871 Female Heterozygous FRANCE NA 207
	c.IVS35+1G>A (c.4459+1G>A)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 243 USA03STA F0032 I01 NA Heterozygous U.S.A NA 54
	c.IVS35-1G>T (c.4460-1G>T)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1564 FRA01BOU F0104 I0142 Female Heterozygous FRANCE NA 145
	c.IVS35-2A>G (c.4460-2A>G)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2652 FRA01BOU F0914 I0950 Female Heterozygous FRANCE NA 207
	c.IVS35-8G>A (c.4460-8G>A)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 440 BEL01GHE F0066 I1822 Male Heterozygous BELGIUM NA 89 1624 FRA01BOU F0403 I0441 Male Heterozygous FRANCE NA 145 2643 FRA01BOU F0905 I0941 Female Heterozygous FRANCE NA 207
	c.IVS36+2T>C (c.4582+2T>C)	36-37	1528	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2354 FRA01BOU F0611 I0648 Male Heterozygous FRANCE NA 207
	c.IVS36+3insT (c.4582+3insT)	36-37	1528	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2844 USA09FAR F0005 I01 Male Heterozygous U.S.A. NA 210
	c.IVS36+5G>C (c.4582+5G>C)	36-37	1528	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1393 UKD05LON F0156 I01 NA Heterozygous U.K. NA 96
	c.IVS37+5G>A (c.4747+5G>A)	37-38	1583	TGFBP#04		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1394 UKD05LON F0157 I01 NA Heterozygous U.K. NA 96
	c.IVS37+5G>T (c.4747+5G>T)	37-38	1583	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 299 CAN01TOR F0001 I19 Male Heterozygous CANADA NA 59
	c.IVS37-1G>A (c.4748-1G>A)	37-38	1583	TGFBP#04		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1395 UKD05LON F0158 I01 NA Heterozygous U.K. NA 96
	c.IVS37-2A>G (c.4748-2A>G)	37-38	1583	TGFBP#04		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2707 FRA01BOU F0973 I1009 Male Heterozygous FRANCE NA 207
	c.IVS38+1G>T (c.4816+1G>T)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2928 BEL01GHE F0248 I0001 NA Heterozygous BELGIUM NA 225
	c.IVS38+3del6 (c.4816+3del6)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Tv	del6	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1709 NOR01OSL F0039 I0001 NA Heterozygous NORWAY NA 148
	c.IVS38-1G>A (c.4817-1G>A)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 610 GER03HAN F0022 I01 Female Heterozygous GERMANY NA 107 709 AUS02WES F0023 I01 NA Heterozygous AUSTRALIA NA 114
	c.IVS38-1G>T (c.4817-1G>T)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2601 FRA01BOU F0859 I0895 Female Heterozygous FRANCE NA 207
	c.IVS38-2A>C (c.4817-2A>C)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2519 FRA01BOU F0775 I0812 Male Heterozygous FRANCE NA 207
	c.IVS38-2delA (c.4817-2delA)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Tv	delA	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1901 NOR01OSL F0040 I0001 NA Heterozygous NORWAY NA 148
	c.IVS39+1G>A (c.4942+1G>A)	39-40	1648	cb EGF-like #24	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1344 FRA01BOU F0358 I0396 Male Heterozygous FRANCE NA 145
	c.IVS39+2T>C (c.4942+2T>C)	39-40	1648	cb EGF-like #24	Ca2+ binding	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1711 NOR01OSL F0041 I0001 NA Heterozygous NORWAY NA 148 3141 CHI08BEI F0011 I0001 Female Heterozygous CHINA NA 244
	c.IVS39+3A>G (c.4942+3A>G)	39-40	1648	cb EGF-like #24	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 937 ITA02PAV F0051 I01 NA Heterozygous ITALIA NA 125
	c.IVS39+3del9 (c.4942+3del9)	39-40	1648	cb EGF-like #24	Ca2+ binding	Small rearrangement	Tv	del9	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1757 UKD07WIL F0041 I0001 NA Heterozygous U.K. NA 157
	c.IVS39-1G>A (c.4943-1G>A)	39-40	1648	cb EGF-like #24	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 721 BEL01GHE F0108 I01 NA Heterozygous BELGIUM NA 122 2556 FRA01BOU F0815 I0851 Female Heterozygous FRANCE NA 207 2778 FRA01BOU F1046 I1082 Male Heterozygous FRANCE NA 207
	c.IVS39-1G>C (c.4943-1G>C)	39-40	1648	cb EGF-like #24	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 246 USA03STA F0034 I01 NA Heterozygous U.S.A NA 54
	c.IVS40+1G>A (c.5065+1G>A)	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1759 UKD07WIL F0043 I0001 NA Heterozygous U.K. NA 157 1968 GER03HAN F0080 I0020 NA Heterozygous GERMANY NA 182 2730 FRA01BOU F0997 I1033 Female Heterozygous FRANCE NA 207 3059 JAP02TOK F0036 I0001 NA Heterozygous JAPAN NA 229
	c.IVS40+2T>G (c.5065+2T>G)	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3290 NET05GRO F0042 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS40+3del5 (c.5065+3del5)	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Tv	del5	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 710 AUS02WES F0024 I01 NA Heterozygous AUSTRALIA NA 114 1078 AUS02WES F0048 I01 NA Heterozygous AUSTRALIA NA 134
	c.IVS40-1G>A (c.5066-1G>A)	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2457 FRA01BOU F0714 I0751 Female Heterozygous FRANCE NA 207
	c.IVS40-2A>G (c.5066-2A>G)	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 939 ITA02PAV F0053 I01 NA Heterozygous ITALIA NA 125
	c.IVS41-2A>C (c.5225-2A>C)	41-42	1742	TGFBP#05		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1042 BEL01GHE F0168 I01 NA Heterozygous BELGIUM NA 122
	c.IVS42+1G>A (c.5296+1G>A)	42-43	1766	cb EGF-like #25	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2642 FRA01BOU F0904 I0940 Male Heterozygous FRANCE NA 207
	c.IVS42+5G>A (c.5296+5G>A)	42-43	1766	cb EGF-like #25	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1082 AUS02WES F0052 I01 NA Heterozygous AUSTRALIA NA 134
	c.IVS42-2A>C (c.5297-2A>C)	42-43	1766	cb EGF-like #25	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1577 FRA01BOU F0234 I0273 Female Heterozygous FRANCE NA 145
	c.IVS42-2A>G (c.5297-2A>G)	42-43	1766	cb EGF-like #25	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1760 UKD07WIL F0044 I0001 NA Heterozygous U.K. NA 157
	c.IVS43+1G>A (c.5422+1G>A)	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2424 FRA01BOU F0682 I0719 Female Heterozygous FRANCE NA 207
	c.IVS43-1G>A (c.5423-1G>A)	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1397 UKD05LON F0160 I01 NA Heterozygous U.K. NA 96
	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
	c.IVS44-2A>C (c.5546-2A>C)	44-45	1849	cb EGF-like #27	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 663 FRA01BOU F0226 I0265 Male Heterozygous FRANCE NA 64
	c.IVS44-2A>G (c.5546-2A>G)	44-45	1849	cb EGF-like #27	Ca2+ binding	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 550 USA04NOR F0018 I3520 Female Heterozygous U.S.A NA 102 573 UKD04OXF F0018 I15 NA Heterozygous U.K. NA 88
	c.IVS45+1G>A (c.5671+1G>A)	45-46	1891	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2634 FRA01BOU F0893 I0929 Male Heterozygous FRANCE NA 207
	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
	c.IVS45-1G>A (c.5672-1G>A)	45-46	1891	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2918 BEL01GHE F0233 I0001 NA Heterozygous BELGIUM NA 225
	c.IVS46+1G>A (c.5788+1G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 420 UKD04OXF F0021 I01 Male Heterozygous U.K. NA 90 645 FRA01BOU F0255 I0294 Female Heterozygous FRANCE NA 64 2624 FRA01BOU F0883 I0919 Male Heterozygous FRANCE NA 207
	c.IVS46+1G>T (c.5788+1G>T)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 789 FRA01BOU F0272 I0311 Female Heterozygous FRANCE NA 145 3218 CAN01TOR F0008 I0001 NA Heterozygous CANADA NA 264
	c.IVS46+5G>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	29
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 92 USA03STA F0007 I0815 NA Heterozygous U.S.A Type IV 28 55 USA01BAL F0024 I01 NA Heterozygous U.S.A NA 21 54 USA01BAL F0025 I01 NA Heterozygous U.S.A NA 21 53 USA01BAL F0026 I01 NA Heterozygous U.S.A NA 21 218 USA08PIT F0013 I01 NA Heterozygous U.S.A NA 49 362 USA01BAL F0035 I32 Female Heterozygous U.S.A NA 81 442 BEL01GHE F0068 I1316 Male Heterozygous BELGIUM NA 89 552 USA04NOR F0019 I3459 Male Heterozygous U.S.A NA 102 606 GER03HAN F0018 I12 Female Heterozygous GERMANY NA 107 672 FRA01BOU F0227 I0266 Male Heterozygous FRANCE NA 145 711 AUS02WES F0025 I01 NA Heterozygous AUSTRALIA NA 114 944 ITA02PAV F0058 I01 NA Heterozygous ITALIA NA 125 945 ITA02PAV F0059 I01 NA Heterozygous ITALIA NA 125 1401 UKD05LON F0164 I01 NA Heterozygous U.K. NA 96 1568 FRA01BOU F0145 I0184 Female Heterozygous FRANCE NA 145 1712 NOR01OSL F0042 I0001 NA Heterozygous NORWAY NA 155 1713 NOR01OSL F0043 I0001 NA Heterozygous NORWAY NA 148 1850 JAP01YOK F0024 I0001 NA Heterozygous JAPAN NA 149 1851 JAP01YOK F0025 I0001 NA Heterozygous JAPAN NA 149 1971 GER03HAN F0083 I0023 NA Heterozygous GERMANY NA 182 2254 FRA01BOU F0509 I0546 Male Heterozygous FRANCE NA 207 2319 FRA01BOU F0576 I0613 NA Heterozygous FRANCE NA 207 2469 FRA01BOU F0726 I0763 Female Heterozygous FRANCE NA 207 2493 FRA01BOU F0749 I0786 Male Heterozygous FRANCE NA 207 2554 FRA01BOU F0813 I0849 Female Heterozygous FRANCE NA 207 2689 FRA01BOU F0952 I0988 Female Heterozygous FRANCE NA 207 2895 BEL01GHE F0207 I0001 NA Heterozygous BELGIUM NA 225 2909 BEL01GHE F0221 I0001 NA Heterozygous BELGIUM NA 225 3291 NET05GRO F0043 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS46+5G>T (c.5788+5G>T)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1535 ITA01FLO F0063 I01 NA Heterozygous ITALIA NA 146
	c.IVS47+1G>A (c.5917+1G>A)	47-48	1973	cb EGF-like #30	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2520 FRA01BOU F0776 I0813 Female Heterozygous FRANCE NA 207
	c.IVS47+6T>C (c.5917+6T>C)	47-48	1973	cb EGF-like #30	Ca2+ binding	Small rearrangement	Ts	T->C	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3162 CHI08BEI F0025 I0001 Male Heterozygous CHINA NA 244 3163 CHI08BEI F0025 I0002 Female Heterozygous CHINA NA 244 3164 CHI08BEI F0025 I0003 Female Heterozygous CHINA NA 244 3165 CHI08BEI F0025 I0004 Male Heterozygous CHINA NA 244 3166 CHI08BEI F0025 I0005 Female Heterozygous CHINA NA 244 3167 CHI08BEI F0025 I0007 Male Heterozygous CHINA NA 244 3168 CHI08BEI F0025 I0008 Female Heterozygous CHINA NA 244 3169 CHI08BEI F0025 I0009 Female Heterozygous CHINA NA 244
	c.IVS47-1G>A (c.5918-1G>A)	47-48	1973	cb EGF-like #30	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3228 UKD05LON F0208 I0001 NA Heterozygous U.K. NA 265
	c.IVS47-1G>C (c.5918-1G>C)	47-48	1973	cb EGF-like #30	Ca2+ binding	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1112 GER03HAN F0049 I01 NA Heterozygous GERMANY NA 133 1402 UKD05LON F0165 I01 NA Heterozygous U.K. NA 96
	c.IVS48+1G>C (c.6037+1G>C)	48-49	2013	cb EGF-like #31	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 785 BEL01GHE F0102 I01 NA Heterozygous BELGIUM NA 121
	c.IVS49+1delG (c.6163+1delG)	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1132 AUS02WES F0060 I01 Female Heterozygous AUSTRALIA NA 134
	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
	c.IVS49-1G>A (c.6164-1G>A)	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1114 GER03HAN F0051 I01 NA Heterozygous GERMANY NA 133
	c.IVS49-1G>C (c.6164-1G>C)	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3292 NET05GRO F0044 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS49-1G>T (c.6164-1G>T)	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1404 UKD05LON F0167 I01 NA Heterozygous U.K. NA 96
	c.IVS50+1G>A (c.6313+1G>A)	50-51	2105	TGFBP#06		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2734 FRA01BOU F1001 I1037 Female Heterozygous FRANCE NA 207
	c.IVS50+1G>T (c.6313+1G>T)	50-51	2105	TGFBP#06		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1406 UKD05LON F0169 I01 NA Heterozygous U.K. NA 96
	c.IVS50+2delTAT (c.6313+2delTAT)	50-51	2105	TGFBP#06		Small rearrangement	Tv	delTAT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1336 FRA01BOU F0394 I0432 Male Heterozygous FRANCE NA 145
	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
	c.IVS50+4insT (c.6313+4insT)	50-51	2105	TGFBP#06		Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3241 AUS01VIE F0008 I0001 Female Heterozygous AUSTRIA NA 271
	c.IVS50-1G>C (c.6314-1G>C)	50-51	2105	TGFBP#06		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 815 BEL01GHE F0159 I01 NA Heterozygous BELGIUM NA 122
	c.IVS50-2A>G (c.6314-2A>G)	50-51	2105	TGFBP#06		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2729 FRA01BOU F0996 I1032 Female Heterozygous FRANCE NA 207
	c.IVS50-3C>G (c.6314-3C>G)	50-51	2105	TGFBP#06		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 892 UKD05LON F0101 I01 NA Heterozygous U.K. NA 96
	c.IVS51+1delTAAGTGTC (c.6379+1delTAAGTGTC)	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	delTAAGTGTC	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 952 ITA02PAV F0066 I01 NA Heterozygous ITALIA NA 125
	c.IVS51+1G>T (c.6379+1G>T)	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1543 ITA01FLO F0071 I01 NA Heterozygous ITALIA NA 146
	c.IVS51+4A>G (c.6379+4A>G)	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2027 TAI01TAI F0047 I0001 NA Heterozygous TAIWAN NA 183
	c.IVS51+6T>G (c.6379+6T>G)	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2077 SWI01ZUR F0041 I01 NA Heterozygous SWITZERLAND NA 188
	c.IVS52+2insTG (c.6496+2insTG)	52-53	2166	cb EGF-like #33	Ca2+ binding	Small rearrangement	Tv	insTG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 520 BEL01GHE F0073 I0001 NA Heterozygous BELGIUM NA 89
	c.IVS52+5G>C (c.6496+5G>C)	52-53	2166	cb EGF-like #33	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2790 FRA01BOU F1058 I1094 Male Heterozygous FRANCE NA 207
	c.IVS52-1G>A (c.6497-1G>A)	52-53	2166	cb EGF-like #33	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2218 FRA01BOU F0475 I0512 Male Heterozygous FRANCE NA 207
	c.IVS53+1G>A (c.6616+1G>A)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1545 ITA01FLO F0073 I01 NA Heterozygous ITALIA NA 146 2313 FRA01BOU F0569 I0606 Male Heterozygous FRANCE NA 207 2632 FRA01BOU F0891 I0927 Male Heterozygous FRANCE NA 207
	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
	c.IVS53+1G>T (c.6616+1G>T)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1621 FRA01BOU F0388 I0426 Female Heterozygous FRANCE NA 145
	c.IVS53+2T>A (c.6616+2T>A)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1471 FRA01BOU F0407 I0445 Female Heterozygous FRANCE NA 145
	c.IVS53-1G>T (c.6617-1G>T)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2612 FRA01BOU F0870 I0906 Female Heterozygous FRANCE NA 207 2625 FRA01BOU F0884 I0920 Female Heterozygous FRANCE NA 207
	c.IVS54+1G>A (c.6739+1G>A)	54-55	2247	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1412 UKD05LON F0175 I01 NA Heterozygous U.K. NA 96 2265 FRA01BOU F0520 I0557 Female Heterozygous FRANCE NA 207
	c.IVS54-2delA (c.6740-2delA)	54-55	2247	cb EGF-like #35	Ca2+ binding	Small rearrangement	Tv	delA	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1285 FRA01BOU F0249 I0288 Female Heterozygous FRANCE NA 145 2906 BEL01GHE F0218 I0001 NA Heterozygous BELGIUM NA 225
	c.IVS55+1G>A (c.6871+1G>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 1458 FRA01BOU F0296 I0335 Female Heterozygous FRANCE NA 145
	c.IVS56+1G>A (c.6997+1G>A)	56-57	2333	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 94 USA03STA F0009 I749 NA Heterozygous U.S.A Type IV 28 1117 GER03HAN F0054 I01 NA Heterozygous GERMANY NA 133
	c.IVS56+5G>A (c.6997+5G>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 3061 JAP02TOK F0038 I0001 NA Heterozygous JAPAN NA 229
	c.IVS56-2A>C (c.6998-2A>C)	56-57	2333	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1779 UKD07WIL F0058 I0001 NA Heterozygous U.K. NA 157
	c.IVS56-2A>G (c.6998-2A>G)	56-57	2333	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 574 UKD04OXF F0019 I02 NA Heterozygous U.K. NA 88 1290 FRA01BOU F0365 I0403 Male Heterozygous FRANCE NA 145 2483 FRA01BOU F0740 I0777 Male Heterozygous FRANCE NA 207
	c.IVS57+1G>C (c.7204+1G>C)	57-58	2402	cb EGF-like #37	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1610 FRA01BOU F0357 I0395 Male Heterozygous FRANCE NA 145
	c.IVS57-1G>A (c.7205-1G>A)	57-58	2402	cb EGF-like #37	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2760 FRA01BOU F1028 I1064 Male Heterozygous FRANCE NA 207
	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
	c.IVS58+1G>A (c.7330+1G>A)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1341 FRA01BOU F0146 I0185 Male Heterozygous FRANCE NA 145 1552 ITA01FLO F0078 I01 NA Heterozygous ITALIA NA 146 2225 FRA01BOU F0481 I0518 Female Heterozygous FRANCE NA 207
	c.IVS58+1G>T (c.7330+1G>T)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 956 ITA02PAV F0070 I01 NA Heterozygous ITALIA NA 125
	c.IVS58+3del4 (c.7330+3del4)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	del4	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2030 TAI01TAI F0050 I0001 NA Heterozygous TAIWAN NA 183
	c.IVS58-2A>G (c.7331-2A>G)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 324 GER01BER F0015 I55 Male Heterozygous GERMANY NA 82
	c.IVS58-3T>G (c.7331-3T>G)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1417 UKD05LON F0180 I01 NA Heterozygous U.K. NA 96
	c.IVS59-2A>G (c.7454-2A>G)	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 958 ITA02PAV F0072 I01 NA Heterozygous ITALIA NA 125
	c.IVS61+1G>A (c.7699+1G>A)	61-62	2567	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2929 BEL01GHE F0249 I0001 NA Heterozygous BELGIUM NA 225
	c.IVS62+1G>A (c.7819+1G>A)	62-63	2607	cb EGF-like #42	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1594 FRA01BOU F0314 I0353 Male Heterozygous FRANCE NA 145 2667 FRA01BOU F0930 I0966 Female Heterozygous FRANCE NA 207
	c.IVS62+3A>C (c.7819+3A>C)	62-63	2607	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2877 BEL01GHE F0184 I0001 NA Heterozygous BELGIUM NA 225
	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
	c.IVS62-1G>C (c.7820-1G>C)	62-63	2607	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1347 FRA01BOU F0393 I0431 Male Heterozygous FRANCE NA 145
	c.IVS62-3C>A (c.7820-3C>A)	62-63	2607	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1331 FRA01BOU F0367 I0405 Female Heterozygous FRANCE NA 145 2119 KOR01SEO F0040 I0001 NA Heterozygous S. KOREA NA 189
	c.IVS63+1G>A (c.8051+1G>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 261 USA03STA F0048 I01 NA Heterozygous U.S.A NA 54
	c.IVS63+5G>A (c.8051+5G>A)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 188 USA05HOU F0006 I01 NA Heterozygous U.S.A NA 24 893 UKD05LON F0030 I01 NA Heterozygous U.K. NA 96
	c.IVS63-2A>G (c.8052-2A>G)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 60 USA05HOU F0005 I01 NA Heterozygous U.S.A NA 24 1900 USA05HOU F0016 I01 Female Heterozygous U.S.A. NA 120
	c.IVS63-3C>A (c.8052-3C>A)	63-64	2684	cb EGF-like #43		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2281 FRA01BOU F0538 I0575 Male Heterozygous FRANCE NA 207
	c.IVS64+1G>A (c.8226+1G>A)	64	2742	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3341 BEL01GHE F0260 I0001 Female Heterozygous BELGIUM NA 279
	c.IVS64+1G>T (c.8226+1G>T)	64	2742	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3359 USA22DAL F0002 I0001 Female Heterozygous U.S.A. NA 283