The UMD-FBN1 mutations database
Nonsense mutations (434 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr20X	c.60C>A	1	20	Signal peptide		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2488 FRA01BOU F0744 I0781 Male Heterozygous FRANCE NA 207
p.Glu30X	c.88G>T	1	30	NH2 unique region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1914 UKD07WIL F0091 I0001 Male Heterozygous U.K. NA 178
p.Leu74X	c.221T>A	2	74	4-cys motif LTBP-like		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3173 USA19NAS F0001 I0001 Male Heterozygous U.S.A. NA 247
p.Gly77X	c.229G>T	2	77	4-cys motif LTBP-like		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2044 SWI01ZUR F0007 I01 NA Heterozygous SWITZERLAND NA 188
p.Gln79X	c.235C>T	2	79	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2699 FRA01BOU F0964 I1000 Male Heterozygous FRANCE NA 207
p.Ser95X	c.284C>A	3	95	EGF-like #01		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2547 FRA01BOU F0805 I0842 Male Heterozygous FRANCE NA 207
p.Cys136X	c.408C>A	4	136	EGF-like #02	Disulfide bonds 136-145 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3314 NET05GRO F0066 I0001 NA Heterozygous NETHERLAND NA 272
p.Gln147X	c.439C>T	4	147	EGF-like#03		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2336 FRA01BOU F0592 I0629 Male Heterozygous FRANCE NA 207
p.Cys154X	c.462T>A	5	154	EGF-like#03	Disulfide bonds 154-166 (C2)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1089 GER03HAN F0024 I01 NA Heterozygous GERMANY NA 133
p.Arg165X	c.493C>T	5	165	EGF-like#03		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1088 GER03HAN F0023 I01 NA Heterozygous GERMANY NA 133 1950 GER03HAN F0062 I0002 NA Heterozygous GERMANY NA 182 2568 FRA01BOU F0827 I0863 Female Heterozygous FRANCE NA 207
p.Tyr170X	c.510C>G	5	170	EGF-like#03		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 690 AUS02WES F0004 I01 NA Heterozygous AUSTRALIA NA 114
p.Gln176X	c.526C>T	5	176	EGF-like#03		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 224 USA03STA F0012 I01 NA Heterozygous U.S.A NA 54 1607 FRA01BOU F0352 I0390 Male Heterozygous FRANCE NA 145
p.Gln193X	c.577C>T	6	193	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2373 FRA01BOU F0630 I0667 Female Heterozygous FRANCE NA 207
p.Gln196X	c.586C>T	6	196	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1124 JAP06HIR F0001 I0001 NA Heterozygous JAPAN NA 119
p.Arg215X	c.643C>T	6	215	Hybrid module#01		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 294 JAP03OSA F0001 I0001 Male Heterozygous JAPAN NA 55 741 BEL01GHE F0127 I01 NA Heterozygous BELGIUM NA 122 756 BEL01GHE F0081 I01 NA Heterozygous BELGIUM NA 121 821 UKD05LON F0029 I01 NA Heterozygous U.K. NA 96 1090 GER03HAN F0025 I01 NA Heterozygous GERMANY NA 133 1358 FRA01BOU F0280 I0319 Male Heterozygous FRANCE NA 145 2512 FRA01BOU F0768 I0805 Male Heterozygous FRANCE NA 207 2599 FRA01BOU F0857 I0893 Female Heterozygous FRANCE NA 207
p.Trp217X	c.651G>A	6	217	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2049 SWI01ZUR F0012 I01 NA Heterozygous SWITZERLAND NA 188
p.Glu222X	c.664G>T	6	222	Hybrid module#01		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1308 FRA01BOU F0263 I0302 Female Heterozygous FRANCE NA 145
p.Gln227X	c.679C>T	6	227	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1464 FRA01BOU F0328 I0366 Female Heterozygous FRANCE NA 145
p.Cys231X	c.693C>A	6	231	Hybrid module#01		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3344 GER07COL F0001 I0001 Female Heterozygous SAUDI ARABIA NA 281
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.Gln251X	c.751C>T	7	251	cb EGF-like #01		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2311 FRA01BOU F0567 I0604 Male Heterozygous FRANCE NA 207 2620 FRA01BOU F0879 I0915 Female Heterozygous FRANCE NA 207
p.Gln258X	c.772C>T	7	258	cb EGF-like #01		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1721 UKD07WIL F0005 I0001 Male Heterozygous U.K. NA 157 1829 JAP01YOK F0003 I0001 NA Heterozygous JAPAN NA 149 2921 BEL01GHE F0238 I0001 NA Heterozygous BELGIUM NA 225
p.Cys271X	c.813C>A	7	271	cb EGF-like #01	Disulfide bonds 257-271 (C4)	Small rearrangement	Tv	C->A	13
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3174 CHI15TIA F0001 I0001 Female Heterozygous CHINA NA 248 3175 CHI15TIA F0001 I0002 Female Heterozygous CHINA NA 248 3176 CHI15TIA F0001 I0003 Male Heterozygous CHINA NA 248 3177 CHI15TIA F0001 I0004 Male Heterozygous CHINA NA 248 3178 CHI15TIA F0001 I0005 Female Heterozygous CHINA NA 248 3179 CHI15TIA F0001 I0006 Female Heterozygous CHINA NA 248 3180 CHI15TIA F0001 I0007 Male Heterozygous CHINA NA 248 3181 CHI15TIA F0001 I0008 Female Heterozygous CHINA NA 248 3182 CHI15TIA F0001 I0009 Female Heterozygous CHINA NA 248 3183 CHI15TIA F0001 I0010 Female Heterozygous CHINA NA 248 3338 CHI17SHA F0001 I0001 Female Heterozygous CHINA NA 278 3339 CHI17SHA F0001 I0002 Male Heterozygous CHINA NA 278 3340 CHI17SHA F0001 I0003 Female Heterozygous CHINA NA 278
p.Gln284X	c.850C>T	7	284	cb EGF-like #01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1365 UKD05LON F0129 I01 NA Heterozygous U.K. NA 96
p.Glu291X	c.871G>T	8	291	cb EGF-like #02	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2710 FRA01BOU F0976 I1012 Male Heterozygous FRANCE NA 207
p.Cys292X	c.876C>A	8	292	cb EGF-like #02	Disulfide bonds 292-304 (C1)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1643 FRA01BOU F0436 I0473 Female Heterozygous FRANCE NA 145 2672 FRA01BOU F0935 I0971 Male Heterozygous FRANCE NA 207
p.Cys315X	c.945T>A	8	315	cb EGF-like #02	Disulfide bonds 315-328 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3045 JAP02TOK F0022 I0001 NA Heterozygous JAPAN NA 229
p.Tyr337X	c.1011C>A	9	337	TGFBP#01	conserved AA in TGFBP	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2090 KOR01SEO F0009 I0001 NA Heterozygous S. KOREA NA 189
p.Cys345X	c.1035C>A	9	345	TGFBP#01	C in disulfide bonds 345-365	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1456 FRA01BOU F0408 I0446 Male Heterozygous FRANCE NA 145
p.Gln348X	c.1042C>T	9	348	TGFBP#01		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 899 ITA02PAV F0013 I01 Female Heterozygous ITALIA NA 125 1487 ITA01FLO F0017 I01 NA Heterozygous ITALIA NA 146
p.Gln351X	c.1051C>T	9	351	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1366 UKD05LON F0130 I01 NA Heterozygous U.K. NA 96
p.Arg364X	c.1090C>T	9	364	TGFBP#01		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1367 UKD05LON F0131 I01 NA Heterozygous U.K. NA 96 342 UKD03DUN F0009 I01 NA Heterozygous U.K. NA 84 484 FRA01BOU F0169 I0208 Male Heterozygous FRANCE NA 64 794 FRA01BOU F0301 I0340 Female Heterozygous FRANCE NA 145 797 BEL01GHE F0141 I01 NA Heterozygous BELGIUM NA 122 1014 FRA01BOU F0207 I0246 Female Heterozygous FRANCE NA 145 1675 NOR01OSL F0005 I0001 NA Heterozygous NORWAY NA 148
p.Trp366X	c.1097G>A	9	366	TGFBP#01		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 825 UKD05LON F0033 I01 NA Heterozygous U.K. NA 96 2091 KOR01SEO F0010 I0001 NA Heterozygous S. KOREA NA 189
p.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 FRA01BOU F0123 I0161 Female Heterozygous FRANCE NA 64 300 FRA01BOU F0165 I0204 Male Heterozygous FRANCE NA 64 597 GER03HAN F0011 I02 Male Heterozygous GERMANY NA 107 1489 ITA01FLO F0019 I01 NA Heterozygous ITALIA NA 146 1831 JAP01YOK F0005 I0001 NA Heterozygous JAPAN NA 149 2052 SWI01ZUR F0015 I01 NA Heterozygous SWITZERLAND NA 188 2440 FRA01BOU F0697 I0734 Male Heterozygous FRANCE NA 207 3315 NET05GRO F0067 I0001 NA Heterozygous NETHERLAND NA 272
p.Tyr434X	c.1302T>G	10	434	Proline-rich		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 226 USA03STA F0014 I01 NA Heterozygous U.S.A NA 54
p.Glu440X	c.1318G>T	10	440	Proline-rich		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 684 FRA01BOU F0297 I0336 Female Heterozygous FRANCE NA 145
p.Gln454X	c.1360C>T	11	454	EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3316 NET05GRO F0068 I0001 NA Heterozygous NETHERLAND NA 272
p.Gln461X	c.1381C>T	11	461	EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1466 FRA01BOU F0429 I0466 Male Heterozygous FRANCE NA 145
p.Tyr472X	c.1416C>A	11	472	EGF-like #04		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1019 FRA01BOU F0302 I0341 Male Heterozygous FRANCE NA 145
p.Lys478X	c.1432A>T	11	478	EGF-like #04		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 623 FRA01BOU F0190 I0229 Female Heterozygous FRANCE NA 64
p.Cys488X	c.1464T>A	11	488	EGF-like #04	Disulfide bonds 476-488 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2043 JAP07TOK F0002 I0001 Male Heterozygous JAPAN NA 187
p.Arg516X	c.1546C>T	12	516	cb EGF-like #03		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 657 FRA01BOU F0166 I0205 Female Heterozygous FRANCE NA 64 901 ITA02PAV F0015 I01 Male Heterozygous ITALIA NA 125 2054 SWI01ZUR F0017 I01 NA Heterozygous SWITZERLAND NA 188 2738 FRA01BOU F1005 I1041 Female Heterozygous FRANCE NA 207 2934 BEL01GHE F0254 I0001 NA Heterozygous BELGIUM NA 225 3317 NET05GRO F0069 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg529X	c.1585C>T	12	529	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	C->T	8
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 1460 FRA01BOU F0111 I0149 Male Heterozygous FRANCE NA 145 1676 NOR01OSL F0006 I0001 NA Heterozygous NORWAY NA 155 1677 NOR01OSL F0007 I0001 NA Heterozygous NORWAY NA 148 1954 GER03HAN F0066 I0006 NA Heterozygous GERMANY NA 182 1988 TAI01TAI F0007 I0001 NA Heterozygous TAIWAN NA 183 2248 FRA01BOU F0503 I0540 Male Heterozygous FRANCE NA 207 3046 JAP02TOK F0023 I0001 NA Heterozygous JAPAN NA 229
p.Arg565X	c.1693C>T	13	565	cb EGF-like #04		Small rearrangement	Ts	C->T	13
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 74 USA07POR F0001 I03 NA Heterozygous U.S.A NA 30 516 USA01BAL F0033 I28 Female Heterozygous U.S.A NA 81 902 ITA02PAV F0016 I01 Female Heterozygous ITALIA NA 125 903 ITA02PAV F0017 I01 Male Heterozygous ITALIA NA 125 904 ITA02PAV F0018 I01 Female Heterozygous ITALIA NA 125 1024 FRA01BOU F0307 I0346 Male Heterozygous FRANCE NA 145 1037 BEL01GHE F0163 I01 NA Heterozygous BELGIUM NA 122 1369 UKD05LON F0133 I01 NA Heterozygous U.K. NA 96 1571 FRA01BOU F0194 I0233 Female Heterozygous FRANCE NA 145 1812 GER05DOR F0007 I0001 NA Heterozygous GERMANY NA 147 1956 GER03HAN F0068 I0008 NA Heterozygous GERMANY NA 182 2055 SWI01ZUR F0019 I01 NA Heterozygous SWITZERLAND NA 188 2925 BEL01GHE F0244 I0001 NA Heterozygous BELGIUM NA 225
p.Glu571X	c.1711G>T	13	571	cb EGF-like #04	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 534 USA04NOR F0003 I1650 NA Heterozygous U.S.A NA 101
p.Gln603X	c.1807C>T	14	603	cb EGF-like #05		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1077 AUS02WES F0047 I01 NA Heterozygous AUSTRALIA NA 134
p.Cys628X	c.1884C>A	15	628	cb EGF-like #06	Disulfide bonds 617-628 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 581 USA03STA F0069 I969 NA Heterozygous U.S.A Type I 104
p.Tyr635X	c.1905C>G	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2058 SWI01ZUR F0022 I01 NA Heterozygous SWITZERLAND NA 188 2409 FRA01BOU F0666 I0703 Male Heterozygous FRANCE NA 207
p.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2851 POR01POR F0001 I0001 Female Heterozygous PORTUGAL NA 220 2852 POR01POR F0001 I0002 Female Heterozygous PORTUGAL NA 220 2853 POR01POR F0001 I0003 Female Heterozygous PORTUGAL NA 220 2854 POR01POR F0001 I0004 Male Heterozygous PORTUGAL NA 220 2855 POR01POR F0001 I0005 Male Heterozygous PORTUGAL NA 220 2856 POR01POR F0001 I0006 Male Heterozygous PORTUGAL NA 220 2857 POR01POR F0001 I0007 Female Heterozygous PORTUGAL NA 220 2858 POR01POR F0001 I0008 Male Heterozygous PORTUGAL NA 220
p.Cys683X	c.2049C>A	16	683	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3229 GRE01ATH F0001 I0001 Female Heterozygous GREECE NA 267 3230 GRE01ATH F0001 I0002 Male Heterozygous GREECE NA 267
p.Cys696X	c.2088C>A	16	696	TGFBP#02	C in disulfide bonds 670-696	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1572 FRA01BOU F0195 I0234 Male Heterozygous FRANCE NA 145
p.Cys699X	c.2097T>A	16	699	TGFBP#02	C in disulfide bonds 684-699	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1833 JAP01YOK F0007 I0001 NA Heterozygous JAPAN NA 149
p.Gln708X	c.2122C>T	17	708	TGFBP#02		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2060 SWI01ZUR F0024 I01 NA Heterozygous SWITZERLAND NA 188 2401 FRA01BOU F0658 I0695 Female Heterozygous FRANCE NA 207
p.Cys750X	c.2250C>A	18	750	cb EGF-like #07	Disulfide bonds 750-763 (C5)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1095 GER03HAN F0030 I01 NA Heterozygous GERMANY NA 133 2487 FRA01BOU F0743 I0780 Male Heterozygous FRANCE NA 207
p.Ser752X	c.2255C>A	18	752	cb EGF-like #07		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 829 UKD05LON F0037 I01 NA Heterozygous U.K. NA 96
p.Cys776X	c.2328T>A	19	776	cb EGF-like #08	Disulfide bonds 776-790 (C2)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1815 GER05DOR F0010 I0001 NA Heterozygous GERMANY NA 147
p.Cys792X	c.2376C>A	19	792	cb EGF-like #08	Disulfide bonds 792-805 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1298 FRA01BOU F0337 I0375 Male Heterozygous FRANCE NA 145
p.Tyr798X	c.2394C>G	19	798	cb EGF-like #08		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2794 FRA01BOU F1062 I1098 Female Heterozygous FRANCE NA 207
p.Glu810X	c.2428G>T	20	810	cb EGF-like #09	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 911 ITA02PAV F0025 I01 Female Heterozygous ITALIA NA 125
p.Cys811X	c.2433C>A	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1993 TAI01TAI F0012 I0001 NA Heterozygous TAIWAN NA 183 3323 BEL01GHE F0258 I0001 Female Heterozygous POLAND NA 273
p.Glu812X	c.2434G>T	20	812	cb EGF-like #09		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 734 BEL01GHE F0121 I01 NA Heterozygous BELGIUM NA 122
p.Ser813X	c.2438C>G	20	813	cb EGF-like #09		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 295 JAP03OSA F0002 I0001 Female Heterozygous JAPAN NA 55
p.Cys816X	c.2448C>A	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1451 FRA01BOU F0346 I0384 Female Heterozygous FRANCE NA 145
p.Cys821X	c.2463C>A	20	821	cb EGF-like #09	Disulfide bonds 811-821 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 680 FRA01BOU F0254 I0293 Female Heterozygous FRANCE NA 145
p.Cys853X	c.2559C>A	21	853	Hybrid motif #02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1735 UKD07WIL F0019 I0001 NA Heterozygous U.K. NA 157
p.Trp854X	c.2562G>A	21	854	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 765 BEL01GHE F0090 I01 NA Heterozygous BELGIUM NA 121
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.Arg861X	c.2581C>T	21	861	Hybrid motif #02		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 232 USA03STA F0020 I01 NA Heterozygous U.S.A NA 54 462 GER01BER F0040 I60 Male Heterozygous GERMANY NA 95 582 USA03STA F0070 I993 NA Heterozygous U.S.A Type III 104 795 FRA01BOU F0299 I0338 Female Heterozygous FRANCE NA 145 830 UKD05LON F0038 I01 NA Heterozygous U.K. NA 96 831 UKD05LON F0039 I01 NA Heterozygous U.K. NA 96 913 ITA02PAV F0027 I01 Male Heterozygous ITALIA NA 125 1930 CHI01HKO F0008 I0001 NA Heterozygous CHINA NA 181 2061 SWI01ZUR F0025 I01 NA Heterozygous SWITZERLAND NA 188 2333 FRA01BOU F0589 I0626 Male Heterozygous FRANCE NA 207 2874 POR01POR F0011 I0001 Male Heterozygous PORTUGAL NA 224
p.Gln874X	c.2620C>T	21	874	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2391 FRA01BOU F0648 I0685 Female Heterozygous FRANCE NA 207
p.Trp883X	c.2648G>A	21	883	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2490 FRA01BOU F0746 I0783 Male Heterozygous FRANCE NA 207
p.Cys921X	c.2763T>A	23	921	cb EGF-like #10	Disulfide bonds 921-935 (C2)	Small rearrangement	Tv	T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1932 CHI01HKO F0010 I0001 NA Heterozygous CHINA NA 181 2062 SWI01ZUR F0026 I01 NA Heterozygous SWITZERLAND NA 188
p.Tyr962X	c.2886C>A	24	962	TGFBP#03		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2452 FRA01BOU F0708 I0745 Male Heterozygous FRANCE NA 207
p.Tyr962X	c.2886C>G	24	962	TGFBP#03		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2407 FRA01BOU F0664 I0701 Male Heterozygous FRANCE NA 207
p.Glu966X	c.2896G>T	24	966	TGFBP#03		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 834 UKD05LON F0042 I01 NA Heterozygous U.K. NA 96
p.Trp988X	c.2963G>A	24	988	TGFBP#03		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 999 GER01BER F0061 I0001 NA Heterozygous GERMANY NA 129 2776 FRA01BOU F1044 I1080 Male Heterozygous FRANCE NA 207
p.Trp988X	c.2964G>A	24	988	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2297 FRA01BOU F0553 I0590 Female Heterozygous FRANCE NA 207
p.Glu994X	c.2980G>T	24	994	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 168 FIN01HEL F0018 I02 Male Heterozygous FINLAND NA 48 1145 UKD05LON F0108 I01 NA Heterozygous U.K. NA 96
p.Cys996X	c.2988T>A	24	996	TGFBP#03	C in disulfide bonds 981-996	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2749 FRA01BOU F1017 I1053 Male Heterozygous FRANCE NA 207
p.Tyr1004X	c.3012C>G	24	1004	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2669 FRA01BOU F0932 I0968 Male Heterozygous FRANCE NA 207
p.Cys1044X	c.3132C>A	25	1044	cb EGF-like #11	Disulfide bonds 1032-1044 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1100 GER03HAN F0035 I01 NA Heterozygous GERMANY NA 133
p.Cys1068X	c.3204C>A	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2304 FRA01BOU F0560 I0597 Male Heterozygous FRANCE NA 207
p.Cys1086X	c.3258T>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1379 UKD05LON F0142 I01 NA Heterozygous U.K. NA 96
p.Cys1095X	c.3285C>A	26	1095	cb EGF-like #12	Disulfide bonds 1081-1095 (C4)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1741 UKD07WIL F0025 I0001 NA Heterozygous U.K. NA 157
p.Glu1102X	c.3304G>T	26	1102	cb EGF-like #12		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2098 KOR01SEO F0017 I0001 NA Heterozygous S. KOREA NA 189
p.Arg1125X	c.3373C>T	27	1125	cb EGF-like #13		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 547 USA04NOR F0014 I3599 Male Heterozygous U.S.A NA 102 1047 BEL01GHE F0173 I01 NA Heterozygous FRANCE NA 122 1102 GER03HAN F0037 I01 NA Heterozygous GERMANY NA 133 1330 FRA01BOU F0209 I0248 Female Heterozygous FRANCE NA 145 1380 UKD05LON F0143 I01 NA Heterozygous U.K. NA 96 1513 ITA01FLO F0041 I01 NA Heterozygous ITALIA NA 146 2003 TAI01TAI F0022 I0001 NA Heterozygous TAIWAN NA 183 2064 SWI01ZUR F0028 I01 NA Heterozygous SWITZERLAND NA 188 2065 SWI01ZUR F0029 I01 NA Heterozygous SWITZERLAND NA 188 2444 FRA01BOU F0701 I0738 Male Heterozygous FRANCE NA 207 3124 GER03HAN F0102 I0001 Male Heterozygous GERMANY NA 243
p.Tyr1136X	c.3408C>G	27	1136	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1514 ITA01FLO F0042 I01 NA Heterozygous ITALIA NA 146 2004 TAI01TAI F0023 I0001 NA Heterozygous TAIWAN NA 183
p.Cys1140X	c.3420C>A	27	1140	cb EGF-like #13	Disulfide bonds 1140-1153 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 839 UKD05LON F0047 I01 NA Heterozygous U.K. NA 96
p.Cys1171X	c.3513C>A	28	1171	cb EGF-like #14	Disulfide bonds 1159-1171 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2066 SWI01ZUR F0030 I01 NA Heterozygous SWITZERLAND NA 188
p.Cys1201X	c.3603C>A	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3047 JAP02TOK F0024 I0001 NA Heterozygous JAPAN NA 229
p.Cys1221X	c.3663T>A	29	1221	cb EGF-like #15	Disulfide bonds 1208-1221 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2405 FRA01BOU F0662 I0699 Male Heterozygous FRANCE NA 207
p.Gly1226X	c.3676G>T	29	1226	cb EGF-like #15	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2869 POR01POR F0006 I0001 Male Heterozygous PORTUGAL NA 224
p.Glu1260X	c.3778G>T	30	1260	cb EGF-like #16	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 238 USA03STA F0026 I01 NA Heterozygous U.S.A NA 54
p.Glu1283X	c.3847G>T	31	1283	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2711 FRA01BOU F0977 I1013 Female Heterozygous FRANCE NA 207
p.Ser1302X	c.3905C>A	31	1302	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2315 FRA01BOU F0571 I0608 Female Heterozygous FRANCE NA 207
p.Cys1320X	c.3960T>A	31	1320	cb EGF-like #17	Disulfide bonds 1307-1320 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 927 ITA02PAV F0041 I01 NA Heterozygous ITALIA NA 125
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.Cys1348X	c.4044T>A	32	1348	cb EGF-like #18	Disulfide bonds 1333-1348 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 537 USA04NOR F0004 I1652 NA Heterozygous U.S.A NA 101
p.Trp1354X	c.4061G>A	32	1354	cb EGF-like #18	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 724 BEL01GHE F0111 I01 NA Heterozygous BELGIUM NA 122
p.Glu1366X	c.4096G>T	33	1366	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1125 JAP06HIR F0002 I0001 NA Heterozygous JAPAN NA 119 1818 GER05DOR F0013 I0001 NA Heterozygous GERMANY NA 147 2369 FRA01BOU F0626 I0663 Female Heterozygous FRANCE NA 207
p.Gln1376X	c.4126C>T	33	1376	cb EGF-like #19		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 660 FRA01BOU F0251 I0290 Female Heterozygous FRANCE NA 64
p.Tyr1387X	c.4161C>A	33	1387	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2725 FRA01BOU F0991 I1027 Male Heterozygous FRANCE NA 207
p.Cys1391X	c.4173C>A	33	1391	cb EGF-like #19	Disulfide bonds 1391-1402 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 975 ITA02PAV F0083 I01 NA Heterozygous ITALIA NA 125
p.Cys1420X	c.4260C>A	34	1420	cb EGF-like #20	Disulfide bonds 1408-1420 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2508 FRA01BOU F0763 I0800 Female Heterozygous FRANCE NA 207
p.Glu1477X	c.4429G>T	35	1477	cb EGF-like #21		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 244 USA03STA F0031 I01 NA Heterozygous U.S.A NA 54
p.Arg1523X	c.4567C>T	36	1523	cb EGF-like #22		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 322 USA01BAL F0034 I27 NA Heterozygous U.S.A NA 81 494 FRA01BOU F0127 I0165 Female Heterozygous FRANCE NA 64 587 USA03STA F0075 I997 NA Heterozygous U.S.A Type II 104 1052 BEL01GHE F0178 I01 NA Heterozygous FRANCE NA 122 1964 GER03HAN F0076 I0016 NA Heterozygous GERMANY NA 182 1965 GER03HAN F0077 I0017 NA Heterozygous GERMANY NA 182 2414 FRA01BOU F0671 I0708 Male Heterozygous FRANCE NA 207 2581 FRA01BOU F0839 I0875 Female Heterozygous FRANCE NA 207
p.Cys1534X	c.4602C>A	37	1534	TGFBP#04	C in disulfide bonds 1534-1562	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1517 ITA01FLO F0045 I01 NA Heterozygous ITALIA NA 146
p.Arg1539X	c.4615C>T	37	1539	TGFBP#04		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 338 GER01BER F0013 I27 Male Heterozygous GERMANY NA 80 389 BEL01GHE F0024 I1183 Female Heterozygous BELGIUM NA 89 1463 FRA01BOU F0376 I0414 Female Heterozygous FRANCE NA 145 1518 ITA01FLO F0046 I01 NA Heterozygous ITALIA NA 146 2105 KOR01SEO F0025 I0001 NA Heterozygous S. KOREA NA 189 2585 FRA01BOU F0842 I0878 Male Heterozygous FRANCE NA 207 2926 BEL01GHE F0245 I0001 NA Heterozygous BELGIUM NA 225 2933 BEL01GHE F0252 I0001 NA Heterozygous BELGIUM NA 225 3160 CHI08BEI F0024 I0001 Male Heterozygous CHINA NA 244 3161 CHI08BEI F0024 I0002 Female Heterozygous CHINA NA 244
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 279 UKD04OXF F0005 I05 NA Heterozygous U.K. Type I or II ? 58 391 BEL01GHE F0026 I2036 Male Heterozygous BELGIUM NA 89 686 UKD06GLA F0001 I01 Female Heterozygous U.K. NA 113 774 BEL01GHE F0100 I01 NA Heterozygous BELGIUM NA 121 844 UKD05LON F0052 I01 NA Heterozygous U.K. NA 96 934 ITA02PAV F0048 I01 NA Heterozygous ITALIA NA 125 1107 GER03HAN F0043 I01 NA Heterozygous GERMANY NA 133 1433 UKD05LON F0196 I01 NA Heterozygous U.K. NA 96 1519 ITA01FLO F0047 I01 NA Heterozygous ITALIA NA 146 2069 SWI01ZUR F0033 I01 NA Heterozygous SWITZERLAND NA 188 2685 FRA01BOU F0948 I0984 Male Heterozygous FRANCE NA 207 2903 BEL01GHE F0215 I0001 NA Heterozygous BELGIUM NA 225
p.Cys1562X	c.4686C>A	37	1562	TGFBP#04	C in disulfide bonds 1534-1562	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 803 BEL01GHE F0147 I01 NA Heterozygous BELGIUM NA 122
p.Trp1570X	c.4709G>A	37	1570	TGFBP#04		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3048 JAP02TOK F0025 I0001 NA Heterozygous JAPAN NA 229
p.Glu1584X	c.4750G>T	38	1584	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 444 BEL01GHE F0070 I0038 NA Heterozygous BELGIUM NA 89
p.Cys1589X	c.4767T>A	38	1589	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2537 FRA01BOU F0793 I0830 Female Heterozygous FRANCE NA 207
p.Glu1593X	c.4777G>T	38	1593	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3049 JAP02TOK F0026 I0001 NA Heterozygous JAPAN NA 229
p.Arg1596X	c.4786C>T	38	1596	TGFBP#04		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 388 BEL01GHE F0023 I1766 Female Heterozygous BELGIUM NA 89 1569 FRA01BOU F0181 I0220 Male Heterozygous FRANCE NA 145 2070 SWI01ZUR F0034 I01 NA Heterozygous SWITZERLAND NA 188 2071 SWI01ZUR F0035 I01 NA Heterozygous SWITZERLAND NA 188 2327 FRA01BOU F0583 I0620 Male Heterozygous FRANCE NA 207 2586 FRA01BOU F0843 I0879 Female Heterozygous FRANCE NA 207 3050 JAP02TOK F0027 I0001 NA Heterozygous JAPAN NA 229
p.Gln1618X	c.4852C>T	39	1618	cb EGF-like #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2013 TAI01TAI F0033 I0001 NA Heterozygous TAIWAN NA 183
p.Gln1630X	c.4888C>T	39	1630	cb EGF-like #23	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1329 FRA01BOU F0225 I0264 Female Heterozygous FRANCE NA 145
p.Tyr1638X	c.4914C>A	39	1638	cb EGF-like #23		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1043 BEL01GHE F0169 I01 NA Heterozygous BELGIUM NA 122
p.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 309 AUS01NAD F0020 I08 Female Heterozygous AUSTRALIA NA 114 373 UKD05LON F0010 I13 NA Heterozygous U.K. NA 96 392 BEL01GHE F0027 I2369 Male Heterozygous BELGIUM NA 89 588 USA03STA F0076 I186 NA Heterozygous U.S.A Type II 104 936 ITA02PAV F0050 I01 NA Heterozygous ITALIA NA 125 1343 FRA01BOU F0354 I0392 Male Heterozygous FRANCE NA 145 1576 FRA01BOU F0232 I0271 Male Heterozygous FRANCE NA 145 1690 NOR01OSL F0020 I0001 NA Heterozygous NORWAY NA 155 1691 NOR01OSL F0021 I0001 NA Heterozygous NORWAY NA 148 1967 GER03HAN F0079 I0019 NA Heterozygous GERMANY NA 182 2016 TAI01TAI F0036 I0001 NA Heterozygous TAIWAN NA 183 2229 FRA01BOU F0485 I0522 Male Heterozygous FRANCE NA 207
p.Tyr1664X	c.4992C>A	40	1664	cb EGF-like #24	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2720 FRA01BOU F0986 I1022 Male Heterozygous FRANCE NA 207
p.Cys1687X	c.5061C>A	40	1687	cb EGF-like #24	Disulfide bonds 1674-1687 (C6)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2897 BEL01GHE F0209 I0001 NA Heterozygous BELGIUM NA 225
p.Trp1729X	c.5187G>A	41	1729	TGFBP#05		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1108 GER03HAN F0045 I01 NA Heterozygous GERMANY NA 133
p.Gln1735X	c.5203C>T	41	1735	TGFBP#05		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1524 ITA01FLO F0052 I01 NA Heterozygous ITALIA NA 146
p.Cys1736X	c.5208T>A	41	1736	TGFBP#05	C in disulfide bonds 1720-1736	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 753 BEL01GHE F0138 I01 NA Heterozygous BELGIUM NA 122
p.Glu1772X	c.5314G>T	43	1772	cb EGF-like #25		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1761 UKD07WIL F0045 I0001 NA Heterozygous U.K. NA 157
p.Arg1790X	c.5368C>T	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 941 ITA02PAV F0055 I01 NA Heterozygous ITALIA NA 125 1642 FRA01BOU F0435 I0472 Male Heterozygous FRANCE NA 145 1763 UKD07WIL F0047 I0001 NA Heterozygous U.K. NA 157 1845 JAP01YOK F0019 I0001 NA Heterozygous JAPAN NA 149 1936 CHI01HKO F0014 I0001 NA Heterozygous CHINA NA 181 2074 SWI01ZUR F0038 I01 NA Heterozygous SWITZERLAND NA 188 2075 SWI01ZUR F0039 I01 NA Heterozygous SWITZERLAND NA 188 2107 KOR01SEO F0027 I0001 NA Heterozygous S. KOREA NA 189 2241 FRA01BOU F0497 I0534 Female Heterozygous FRANCE NA 207 2331 FRA01BOU F0587 I0624 Female Heterozygous FRANCE NA 207
p.Gly1796X	c.5386G>T	43	1796	cb EGF-like #25	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 853 UKD05LON F0061 I01 NA Heterozygous U.K. NA 96
p.Lys1802X	c.5404A>T	43	1802	cb EGF-like #25		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1846 JAP01YOK F0020 I0001 NA Heterozygous JAPAN NA 149 1847 JAP01YOK F0021 I0001 NA Heterozygous JAPAN NA 149
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.Gly1845X	c.5533G>T	44	1845	cb EGF-like #26		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2558 FRA01BOU F0817 I0853 Male Heterozygous FRANCE NA 207
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.Gln1886X	c.5656C>T	45	1886	cb EGF-like #27		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2419 FRA01BOU F0677 I0714 Male Heterozygous FRANCE NA 207
p.Glu1896X	c.5686G>T	46	1896	cb EGF-like #28		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2735 FRA01BOU F1002 I1038 Female Heterozygous FRANCE NA 207
p.Gly1937X	c.5809G>T	47	1937	cb EGF-like #29		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 775 BEL01GHE F0101 I01 NA Heterozygous BELGIUM NA 121
p.Cys1942X	c.5826C>A	47	1942	cb EGF-like #29	Disulfide bonds 1942-1956 (C2)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 589 USA03STA F0077 I768 NA Heterozygous U.S.A NA 104 679 FRA01BOU F0274 I0313 Male Heterozygous FRANCE NA 145
p.Gln1946X	c.5836C>T	47	1946	cb EGF-like #29		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 949 ITA02PAV F0063 I01 NA Heterozygous ITALIA NA 125 979 FRA01BOU F0288 I0327 Female Heterozygous FRANCE NA 145
p.Gln1955X	c.5863C>T	47	1955	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 590 USA03STA F0078 I754 NA Heterozygous U.S.A NA 104 2917 BEL01GHE F0231 I0001 NA Heterozygous BELGIUM NA 225
p.Arg1997X	c.5989A>T	48	1997	cb EGF-like #30	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 144 UKD03DUN F0008 I01 Female Heterozygous U.K. NA 70
p.Gly2003X	c.6007G>T	48	2003	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2403 FRA01BOU F0660 I0697 Female Heterozygous FRANCE NA 207
p.Cys2029X	c.6087C>A	49	2029	cb EGF-like #31	Disulfide bonds 2017-2029 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1657 FRA01BOU F0448 I0485 Female Heterozygous FRANCE NA 145
p.Cys2053X	c.6159C>A	49	2053	cb EGF-like #31	Disulfide bonds 2040-2053 (C6)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1403 UKD05LON F0166 I01 NA Heterozygous U.K. NA 96
p.Gln2054X	c.6160C>T	49	2054	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 387 BEL01GHE F0022 I1639 Female Heterozygous BELGIUM NA 89
p.Arg2057X	c.6169C>T	50	2057	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 253 USA03STA F0040 I01 NA Heterozygous U.S.A NA 54 1538 ITA01FLO F0066 I01 NA Heterozygous ITALIA NA 146 2473 FRA01BOU F0730 I0767 Male Heterozygous FRANCE NA 207
p.Tyr2062X	c.6186T>A	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1539 ITA01FLO F0067 I01 NA Heterozygous ITALIA NA 146
p.Tyr2062X	c.6186T>G	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2285 FRA01BOU F0542 I0579 Female Heterozygous FRANCE NA 207
p.Lys2064X	c.6190A>T	50	2064	TGFBP#06	C-Term MMPs site	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1540 ITA01FLO F0068 I01 NA Heterozygous ITALIA NA 146
p.Gln2081X	c.6241C>T	50	2081	TGFBP#06	C-Term MMPs site	Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2112 KOR01SEO F0033 I0001 NA Heterozygous S. KOREA NA 189 3153 CHI08BEI F0021 I0001 Male Heterozygous CHINA NA 244 3154 CHI08BEI F0021 I0002 Female Heterozygous CHINA NA 244 3155 CHI08BEI F0021 I0003 Male Heterozygous CHINA NA 244
p.Trp2092X	c.6275G>A	50	2092	TGFBP#06		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2731 FRA01BOU F0998 I1034 Female Heterozygous FRANCE NA 207
p.Gln2109X	c.6325C>T	51	2109	TGFBP#06		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 630 FRA01BOU F0239 I0278 Male Heterozygous FRANCE NA 64 2879 BEL01GHE F0187 I0001 NA Heterozygous BELGIUM NA 225
p.Tyr2113X	c.6339T>A	51	2113	TGFBP#06		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1695 NOR01OSL F0025 I0001 NA Heterozygous NORWAY NA 148
p.Tyr2113X	c.6339T>G	51	2113	TGFBP#06		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 57 USA01BAL F0011 I07 NA Heterozygous U.S.A NA 5
p.Glu2169X	c.6505G>T	53	2169	cb EGF-like #33	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1409 UKD05LON F0172 I01 NA Heterozygous U.K. NA 96
p.Glu2189X	c.6565G>T	53	2189	cb EGF-like #33	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2140 USA16ROC F0001 I0001 NA Heterozygous U.S.A. NA 198
p.Glu2193X	c.6577G>T	53	2193	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 312 AUS01NAD F0023 I43 Female Heterozygous AUSTRALIA NA 114
p.Glu2194X	c.6580G>T	53	2194	cb EGF-like #33		Small rearrangement	Tv	G->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2972 SPA01MAD F0001 I0001 Male Heterozygous SPAIN NA 235 2973 SPA01MAD F0001 I0002 Female Heterozygous SPAIN NA 235 2974 SPA01MAD F0001 I0003 Female Heterozygous SPAIN NA 235 2975 SPA01MAD F0001 I0004 Female Heterozygous SPAIN NA 235
p.Gly2195X	c.6583G>T	53	2195	cb EGF-like #33	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 390 BEL01GHE F0025 I1692 Female Heterozygous BELGIUM NA 89
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 351 JAP03OSA F0007 I0001 Male Heterozygous JAPAN NA 55 499 FRA01BOU F0154 I0193 Female Heterozygous FRANCE NA 64 805 BEL01GHE F0149 I01 NA Heterozygous BELGIUM NA 122 868 UKD05LON F0076 I01 NA Heterozygous U.K. NA 96 2475 FRA01BOU F0732 I0769 Female Heterozygous FRANCE NA 207 2479 FRA01BOU F0736 I0773 Male Heterozygous FRANCE NA 207 2636 FRA01BOU F0897 I0933 Female Heterozygous FRANCE NA 207 2757 FRA01BOU F1025 I1061 Male Heterozygous FRANCE NA 207 3051 JAP02TOK F0028 I0001 NA Heterozygous JAPAN NA 229 3139 CHI08BEI F0009 I0001 Male Heterozygous CHINA NA 244 3200 ITA01FLO F0109 I0001 Female Heterozygous ITALIA NA 253
p.Glu2229X	c.6685G>T	54	2229	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1140 UKD05LON F0103 I01 NA Heterozygous U.K. NA 96
p.Gln2262X	c.6784C>T	55	2262	cb EGF-like #35		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 48 USA01BAL F0027 I01 NA Heterozygous U.S.A NA 21 2616 FRA01BOU F0875 I0911 Male Heterozygous FRANCE NA 207
p.Glu2264X	c.6790G>T	55	2264	cb EGF-like #35		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3215 CHI08BEI F0027 I0001 NA Heterozygous CHINA NA 263
p.Gln2281X	c.6841C>T	55	2281	cb EGF-like #35		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2796 FRA01BOU F1064 I1100 Female Heterozygous FRANCE NA 207
p.Lys2298X	c.6892A>T	56	2298	cb EGF-like#36		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1942 CHI01HKO F0020 I0001 NA Heterozygous CHINA NA 181
p.Cys2302X	c.6906T>A	56	2302	cb EGF-like#36	Disulfide bonds 2302-2316 (C2)	Small rearrangement	Tv	T->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2860 POR01POR F0002 I0001 Male Heterozygous PORTUGAL NA 224 2861 POR01POR F0002 I0002 Male Heterozygous PORTUGAL NA 224 2862 POR01POR F0002 I0003 Male Heterozygous PORTUGAL NA 224 2863 POR01POR F0002 I0004 Female Heterozygous PORTUGAL NA 224
p.Cys2331X	c.6993C>A	56	2331	cb EGF-like#36	Disulfide bonds 2318-2331 (C6)	Small rearrangement	Tv	C->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1975 GER03HAN F0087 I0027 NA Heterozygous GERMANY NA 182 1976 GER03HAN F0088 I0028 NA Heterozygous GERMANY NA 182 2740 FRA01BOU F1008 I1044 Male Heterozygous FRANCE NA 207
p.Tyr2338X	c.7014C>A	57	2338	TGFBP #07		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2578 FRA01BOU F0836 I0872 Female Heterozygous FRANCE NA 207
p.Tyr2338X	c.7014C>G	57	2338	TGFBP #07		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2358 FRA01BOU F0615 I0652 Female Heterozygous FRANCE NA 207 2545 FRA01BOU F0803 I0840 Male Heterozygous FRANCE NA 207
p.Trp2371X	c.7112G>A	57	2371	TGFBP #07		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2882 BEL01GHE F0190 I0001 NA Heterozygous BELGIUM NA 225
p.Gln2381X	c.7141C>T	57	2381	TGFBP #07		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1472 FRA01BOU F0344 I0382 Female Heterozygous FRANCE NA 145 2305 FRA01BOU F0561 I0598 Female Heterozygous FRANCE NA 207
p.Arg2394X	c.7180C>T	57	2394	TGFBP #07		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 283 UKD04OXF F0008 I08 NA Heterozygous U.K. Type I or II ? 58 743 BEL01GHE F0129 I01 NA Heterozygous BELGIUM NA 122 1068 AUS02WES F0038 I01 NA Heterozygous AUSTRALIA NA 134 1334 FRA01BOU F0318 I0357 Male Heterozygous FRANCE NA 145 1626 FRA01BOU F0406 I0444 Male Heterozygous FRANCE NA 145 1802 UKD07WIL F0086 I0001 NA Heterozygous U.K. NA 157 2116 KOR01SEO F0037 I0001 NA Heterozygous S. KOREA NA 189 2422 FRA01BOU F0680 I0717 Male Heterozygous FRANCE NA 207 2531 FRA01BOU F0787 I0824 Male Heterozygous FRANCE NA 207 2607 FRA01BOU F0865 I0901 Male Heterozygous FRANCE NA 207 2649 FRA01BOU F0911 I0947 Male Heterozygous FRANCE NA 207
p.Arg2414X	c.7240C>T	58	2414	cb EGF-like #37		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 540 USA04NOR F0007 I1605 NA Heterozygous U.S.A NA 101 593 USA03STA F0082 I938 NA Heterozygous U.S.A Type II 104 2080 SWI01ZUR F0044 I01 NA Heterozygous SWITZERLAND NA 188 2081 SWI01ZUR F0045 I01 NA Heterozygous SWITZERLAND NA 188 2439 FRA01BOU F0696 I0733 Female Heterozygous FRANCE NA 207 2530 FRA01BOU F0786 I0823 Male Heterozygous FRANCE NA 207 2683 FRA01BOU F0946 I0982 Male Heterozygous FRANCE NA 207 3052 JAP02TOK F0029 I0001 NA Heterozygous JAPAN NA 229
p.Tyr2425X	c.7275T>A	58	2425	cb EGF-like #37	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1654 FRA01BOU F0446 I0483 Female Heterozygous FRANCE NA 145
p.Cys2442X	c.7326T>A	58	2442	cb EGF-like #37	Disulfide bonds 2429-2442 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1650 FRA01BOU F0442 I0479 Male Heterozygous FRANCE NA 145
p.Glu2447X	c.7339G>T	59	2447	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 957 ITA02PAV F0071 I01 NA Heterozygous ITALIA NA 125
p.Tyr2466X	c.7398C>A	59	2466	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 386 BEL01GHE F0021 I2307 Male Heterozygous BELGIUM NA 89 568 UKD04OXF F0013 I26 NA Heterozygous U.K. NA 88
p.Gln2467X	c.7399C>T	59	2467	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 569 UKD04OXF F0014 I24 NA Heterozygous U.K. NA 88 1776 UKD07WIL F0061 I0001 NA Heterozygous U.K. NA 157 1856 JAP01YOK F0030 I0001 NA Heterozygous JAPAN NA 149
p.Cys2470X	c.7410C>A	59	2470	cb EGF-like #38	Disulfide bonds 2470-2483 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2630 FRA01BOU F0889 I0925 Male Heterozygous FRANCE NA 207
p.Gln2477X	c.7429C>T	59	2477	cb EGF-like #38		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1349 FRA01BOU F0340 I0378 Female Heterozygous FRANCE NA 145
p.Cys2509X	c.7527C>A	60	2509	cb EGF-like #39	Disulfide bonds 2496-2509 (C4)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2365 FRA01BOU F0622 I0659 Female Heterozygous FRANCE NA 207
p.Lys2510X	c.7528A>T	60	2510	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2792 FRA01BOU F1060 I1096 Male Heterozygous FRANCE NA 207
p.Gly2514X	c.7540G>T	60	2514	cb EGF-like #39	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 624 FRA01BOU F0203 I0242 Male Heterozygous FRANCE NA 64 1803 UKD07WIL F0087 I0001 NA Heterozygous U.K. NA 157
p.Cys2535X	c.7605C>A	61	2535	cb EGF-like #40	Disulfide bonds 2535-2550 (C2)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 325 GER01BER F0017 I22 Male Heterozygous GERMANY NA 82 2082 SWI01ZUR F0046 I01 NA Heterozygous SWITZERLAND NA 188
p.Gln2542X	c.7624C>T	61	2542	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 880 UKD05LON F0088 I01 NA Heterozygous U.K. NA 96
p.Gln2553X	c.7657C>T	61	2553	cb EGF-like #40		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3078 KOR01SEO F0042 I0001 Male Heterozygous S. KOREA NA 241
p.Ser2557X	c.7670C>A	61	2557	cb EGF-like #40		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1777 UKD07WIL F0062 I0001 NA Heterozygous U.K. NA 157
p.Cys2571X	c.7713T>A	62	2571	cb EGF-like #41	Disulfide bonds 2571-2581 (C1)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1425 UKD05LON F0188 I01 NA Heterozygous U.K. NA 96
p.Cys2592X	c.7776C>A	62	2592	cb EGF-like #41	Disulfide bonds 2592-2605 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2765 FRA01BOU F1033 I1069 Female Heterozygous FRANCE NA 207
p.Tyr2600X	c.7800C>A	62	2600	cb EGF-like #41		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2083 SWI01ZUR F0047 I01 NA Homozygous SWITZERLAND NA 188
p.Tyr2600X	c.7800C>G	62	2600	cb EGF-like #41		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2524 FRA01BOU F0780 I0817 Female Heterozygous FRANCE NA 207
p.Gln2601X	c.7801C>T	62	2601	cb EGF-like #41		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2084 SWI01ZUR F0048 I01 NA Heterozygous SWITZERLAND NA 188 2085 SWI01ZUR F0049 I01 NA Heterozygous SWITZERLAND NA 188
p.Trp2602X	c.7806G>A	62	2602	cb EGF-like #41		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1615 FRA01BOU F0374 I0412 Female Heterozygous FRANCE NA 145
p.Cys2605X	c.7815T>A	62	2605	cb EGF-like #41	Disulfide bonds 2592-2605 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1980 GER03HAN F0092 I0034 NA Heterozygous GERMANY NA 182
p.Gly2618X	c.7852G>T	63	2618	cb EGF-like #42		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2237 FRA01BOU F0493 I0530 Female Heterozygous FRANCE NA 207
p.Gln2641X	c.7921C>T	63	2641	cb EGF-like #42		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1038 BEL01GHE F0164 I01 NA Heterozygous BELGIUM NA 122 2418 FRA01BOU F0676 I0713 Female Heterozygous FRANCE NA 207
p.Gln2656X	c.7966C>T	63	2656	cb EGF-like #43		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 635 FRA01BOU F0136 I0175 Female Heterozygous FRANCE NA 64 1351 FRA01BOU F0400 I0438 Female Heterozygous FRANCE NA 145
p.Cys2659X	c.7977C>A	63	2659	cb EGF-like #43	Disulfide bonds 2659-2672 (C2)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2086 SWI01ZUR F0050 I01 NA Heterozygous SWITZERLAND NA 188
p.Tyr2670X	c.8010C>G	63	2670	cb EGF-like #43	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3349 GER07COL F0006 I0001 Female Heterozygous SAUDI ARABIA NA 281
p.Arg2694X	c.8080C>T	64	2694	COOH unique region		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 703 AUS02WES F0017 I01 NA Heterozygous AUSTRALIA NA 114 786 BEL01GHE F0099 I01 NA Heterozygous BELGIUM NA 122 1054 BEL01GHE F0180 I01 NA Heterozygous FRANCE NA 122 1292 FRA01BOU F0256 I0295 Male Heterozygous FRANCE NA 145 1558 ITA01FLO F0084 I01 NA Heterozygous ITALIA NA 146 1669 CHI06FUJ F0001 I0001 NA Heterozygous CHINA NA 156 2033 TAI01TAI F0053 I0001 NA Heterozygous TAIWAN NA 183 2435 FRA01BOU F0692 I0729 Male Heterozygous FRANCE NA 207 2546 FRA01BOU F0804 I0841 Female Heterozygous FRANCE NA 207
p.Ser2709X	c.8126C>G	64	2709	COOH unique region		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3247 AUS01VIE F0013 I0001 Male Heterozygous AUSTRIA NA 271
p.Glu2717X	c.8149G>T	64	2717	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 385 BEL01GHE F0020 I1492 Male Heterozygous BELGIUM NA 89 813 BEL01GHE F0157 I01 NA Heterozygous BELGIUM NA 122
p.Glu2735X	c.8203G>T	64	2735	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2337 FRA01BOU F0593 I0630 Male Heterozygous FRANCE NA 207
p.Glu2742X	c.8224G>T	64	2742	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1785 UKD07WIL F0069 I0001 NA Heterozygous U.K. NA 157
p.Trp2756X	c.8268G>A	65	2756	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 FIN01HEL F0002 I01 Male Heterozygous FINLAND NA 9
p.Lys2774X	c.8320A>T	65	2774	FibuCTDIII-like motif		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1561 ITA01FLO F0087 I01 NA Heterozygous ITALIA NA 146
p.Arg2776X	c.8326C>T	65	2776	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 38 UKD01EDI F0003 I58 Female Heterozygous U.K. NA 19 1641 FRA01BOU F0434 I0471 Female Heterozygous FRANCE NA 145
p.Tyr2793X	c.8379C>G	65	2793	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 971 ITA02PAV F0005 I01 NA Heterozygous ITALIA NA 125
p.Glu2800X	c.8398G>T	65	2800	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2708 FRA01BOU F0974 I1010 Male Heterozygous FRANCE NA 207
p.Gln2808X	c.8422C>T	65	2808	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1707 NOR01OSL F0037 I0001 NA Heterozygous NORWAY NA 148
p.Lys2840X	c.8518A>T	65	2840	FibuCTDIII-like motif		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1142 UKD05LON F0105 I01 NA Heterozygous U.K. NA 96
p.Glu2841X	c.8521G>T	65	2841	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3053 JAP02TOK F0030 I0001 NA Heterozygous JAPAN NA 229
p.Tyr2849X	c.8547T>G	65	2849	FibuCTDIII-like motif		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2848 CHI08BEI F0002 I0001 Male Heterozygous CHINA NA 217 2849 CHI08BEI F0002 I0002 Male Heterozygous CHINA NA 217
p.Gln2867X	c.8599C>T	65	2867	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 498 FRA01BOU F0176 I0215 Male Heterozygous FRANCE NA 64 654 FRA01BOU F0220 I0259 Female Heterozygous FRANCE NA 64