The UMD-FBN1 mutations database
Small insertions (107 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ala18GlyfsX37	c.52dup	1	18	Signal peptide		Small rearrangement		Stop at 54	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2291 FRA01BOU F0547 I0584 Female Heterozygous FRANCE NA 207
p.Ser22GlufsX33	c.63dup	1	22	Signal peptide		Small rearrangement	Fr.	Stop at 54	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1328 FRA01BOU F0379 I0417 Male Heterozygous FRANCE NA 145
p.Lys43ArgfsX67	c.123_127dup	1	43	NH2 unique region	N-Term Furine/Pace site	Small rearrangement	Fr.	Stop at 109	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1182 UKD05LON F0127 I01 NA Heterozygous U.K. NA 96
p.Ser104IlefsX25	c.308dup	3	103	EGF-like #01		Small rearrangement	Fr.	Stop at 128	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1590 FRA01BOU F0295 I0334 Male Heterozygous FRANCE NA 145
p.Ser128X	c.380dup	4	127	EGF-like #02	conserved AA in EGF-like	Small rearrangement		Stop at 128	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2252 FRA01BOU F0507 I0544 Female Heterozygous FRANCE NA 207
p.His144SerfsX47	c.430insTC	4	144	EGF-like #02		Small rearrangement	Fr.	Stop at 190	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2088 KOR01SEO F0007 I0001 NA Heterozygous S. KOREA NA 189
p.Tyr170X	c.509dup	5	170	EGF-like#03		Small rearrangement	Fr.	Stop at 170	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1986 TAI01TAI F0005 I0001 NA Heterozygous TAIWAN NA 183
p.Glu178X	c.531insC	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Fr.	Stop at 178	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2976 BEL01GHE F0257 I0001 Female Heterozygous BELGIUM NA 236
p.Ser191IlefsX34	c.572insTCCCTGG	6	191	Hybrid module#01		Small rearrangement	Fr.	Stop at 224	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2872 POR01POR F0010 I0001 Female Heterozygous PORTUGAL NA 224
p.Glu249GlyfsX16	c.745dup	7	249	cb EGF-like #01	Ca2+ binding	Small rearrangement		Stop at 264	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2622 FRA01BOU F0881 I0917 Male Heterozygous FRANCE NA 207
p.Tyr311LeufsX37	c.931dup	8	311	cb EGF-like #02	Ca2+ binding	Small rearrangement	Fr.	Stop at 347	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 284 UKD04OXF F0002 I02 NA Heterozygous U.K. Type I or II ? 58
p.Cys313PhefsX36	c.934_937dup	8	313	cb EGF-like #02	Disulfide bonds 299-313 (C4)	Small rearrangement	Fr.	Stop at 348	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3300 NET05GRO F0052 I0001 NA Heterozygous NETHERLAND NA 272
p.Tyr320X	c.959dup	8	320	cb EGF-like #02		Small rearrangement	Fr.	Stop at 320	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 432 BEL01GHE F0059 I2203 Male Heterozygous BELGIUM NA 89 2679 FRA01BOU F0942 I0978 Female Heterozygous FRANCE NA 207
p.Tyr337X	c.1010dup	9	337	TGFBP#01	conserved AA in TGFBP	Small rearrangement		Stop at 337	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2448 FRA01BOU F0705 I0742 Male Heterozygous FRANCE NA 207
p.Cys365X	c.1092_1094dup	9	365	TGFBP#01	C in disulfide bonds 345-365	Small rearrangement	Fr.	Stop at 365	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1953 GER03HAN F0065 I0005 NA Heterozygous GERMANY NA 182
p.Thr371HisfsX5	c.1110insG	9	370	TGFBP#01		Small rearrangement	Fr.	Stop at 375	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2129 USA05HOU F0021 I0001 Male Heterozygous U.S.A. NA 193
p.Thr450IlefsX130	c.1347_1348dup	11	450	EGF-like #04	N-Term MMPs site	Small rearrangement		Stop at 579	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2375 FRA01BOU F0632 I0669 Female Heterozygous FRANCE NA 207
p.Thr450AsnfsX2	c.1348dup	11	450	EGF-like #04	N-Term MMPs site	Small rearrangement	Fr.	Stop at 451	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1091 GER03HAN F0026 I01 NA Heterozygous GERMANY NA 133
p.Cys460LeufsX16	c.1378dup	11	460	EGF-like #04	Disulfide bonds 460-474 (C2)	Small rearrangement	Fr.	Stop at 475	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 306 AUS01NAD F0012 I34 Male Heterozygous AUSTRALIA NA 114
p.Asn477AlafsX103	c.1426_1427dup	11	476	EGF-like #04	Disulfide bonds 476-488 (C5)	Small rearrangement		Stop at 579	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2638 FRA01BOU F0899 I0935 Female Heterozygous FRANCE NA 207
p.Gly479ArgfsX12	c.1434dup	11	479	EGF-like #04	conserved AA in EGF-like	Small rearrangement	Fr.	Stop at 490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 656 FRA01BOU F0241 I0280 Male Heterozygous FRANCE NA 64
p.Thr524AsnfsX9	c.1570dup	12	524	cb EGF-like #03		Small rearrangement	Fr.	Stop at 532	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 638 FRA01BOU F0172 I0211 Female Heterozygous FRANCE NA 64 1022 FRA01BOU F0279 I0318 Female Heterozygous FRANCE NA 145
p.Cys596MetfsX20	c.1785dup	14	596	cb EGF-like #05	Disulfide bonds 582-596 (C4)	Small rearrangement		Stop at 615	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2521 FRA01BOU F0777 I0814 Male Heterozygous FRANCE NA 207
p.Cys598PhefsX28	c.1791_1792dup	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Fr.	Stop at 625	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1727 UKD07WIL F0011 I0001 NA Heterozygous U.K. NA 157
p.Asp654LeufsX65	c.1957_1958dup	15	653	cb EGF-like #06		Small rearrangement	Fr.	Stop at 718	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1586 FRA01BOU F0275 I0314 Female Heterozygous FRANCE NA 145
p.Arg658AlafsX23	c.1971dup	16	658	TGFBP#02		Small rearrangement	Fr.	Stop at 680	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1152 UKD05LON F0115 I01 NA Heterozygous U.K. NA 96
p.Cys661LeufsX20	c.1981dup	16	661	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Fr.	Stop at 680	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2059 SWI01ZUR F0023 I01 NA Heterozygous SWITZERLAND NA 188
p.Ala709GlyfsX15	c.2123dup	17	708	TGFBP#02		Small rearrangement		Stop at 723	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2658 FRA01BOU F0919 I0955 Female Heterozygous FRANCE NA 207
p.Ser713GlnfsX11	c.2136dup	17	713	TGFBP#02		Small rearrangement	Fr.	Stop at 723	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1814 GER05DOR F0009 I0001 NA Heterozygous GERMANY NA 147
p.Asn762ArgfsX4	c.2285insG	18	762	cb EGF-like #07		Small rearrangement	Fr.	Stop at 765	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1148 UKD05LON F0111 I01 NA Heterozygous U.K. NA 96
p.Ile858HisfsX2	c.2570dup	21	857	Hybrid motif #02		Small rearrangement	Fr.	Stop at 859	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 297 JAP03OSA F0003 I0001 Male Heterozygous JAPAN NA 55
p.Ile858HisfsX2	c.2571dup	21	858	Hybrid motif #02		Small rearrangement		Stop at 859	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2617 FRA01BOU F0876 I0912 Female Heterozygous FRANCE NA 207
p.Glu863X	c.2586dup	21	863	Hybrid motif #02		Small rearrangement	Fr.	Stop at 863	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 434 BEL01GHE F0061 I2034 Male Heterozygous BELGIUM NA 89
p.Ser932ValfsX21	c.2793dup	23	932	cb EGF-like #10	Ca2+ binding	Small rearrangement	Fr.	Stop at 952	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 788 FRA01BOU F0178 I0217 Male Heterozygous FRANCE NA 145
p.Ala986GlyfsX6	c.2956dup	24	986	TGFBP#03		Small rearrangement	Fr.	Stop at 991	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1000 GER01BER F0062 I0001 NA Heterozygous GERMANY NA 129
p.Gly1058_Phe1059insCys	c.3175insTGC	25	1059	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 33 USA05HOU F0001 I01 NA Heterozygous U.S.A Type V d 15
p.Ser1077IlefsX3	c.3227dup	26	1076	cb EGF-like #12		Small rearrangement		Stop at 1079	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2552 FRA01BOU F0811 I0847 Male Heterozygous FRANCE NA 207
p.Ile1076MetfsX7	c.3227insTGATCCCTTG	26	1076	cb EGF-like #12		Small rearrangement	Fr.	Stop at 1082	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 917 ITA02PAV F0031 I01 Female Heterozygous ITALIA NA 125
p.Pro1078HisfsX12	c.3228_3232dup	26	1078	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1089	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 554 USA08PIT F0005 I01 NA Heterozygous U.S.A NA 49
p.Asn1149GlnfsX10	c.3444dup	27	1149	cb EGF-like #13	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1158	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 237 USA03STA F0025 I01 NA Heterozygous U.S.A NA 54
p.Gly1176ArgfsX17	c.3525dup	28	1176	cb EGF-like #14	Domain-domain packing	Small rearrangement	Fr.	Stop at 1192	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 584 USA03STA F0072 I857 NA Heterozygous U.S.A Type I 104
p.Ser1188PhefsX5	c.3562dup	28	1188	cb EGF-like #14		Small rearrangement	Fr.	Stop at 1192	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 772 BEL01GHE F0097 I01 NA Heterozygous BELGIUM NA 121
p.Ser1202ArgfsX6	c.3595_3605dup	29	1202	cb EGF-like #15		Small rearrangement	Fr.	Stop at 1207	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1742 UKD07WIL F0026 I0001 NA Heterozygous U.K. NA 157
p.Asn1256AlafsX22	c.3760_3764dup	30	1255	cb EGF-like #16	Ca2+ binding	Small rearrangement	Fr.	Stop at 1277	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 924 ITA02PAV F0038 I01 Female Heterozygous ITALIA NA 125
p.Leu1264AlafsX13	c.3787_3788dup	30	1263	cb EGF-like #16	Disulfide bonds 1249-1263 (C4)	Small rearrangement	Fr.	Stop at 1276	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1744 UKD07WIL F0028 I0001 NA Heterozygous U.K. NA 157
p.Cys1278TrpfsX6	c.3833dup	30	1278	cb EGF-like #16	Disulfide bonds 1265-1278 (C6)	Small rearrangement		Stop at 1283	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2232 FRA01BOU F0488 I0525 Female Heterozygous FRANCE NA 207
p.Asn1298_Pro1299insThrAsn	c.3895insACAAAC	31	1299	cb EGF-like #17	Ca2+ binding	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1714 UKD05LON F0021 I0001 NA Heterozygous U.K. NA 96
p.Thr1321TyrfsX5	c.3960dup	31	1321	cb EGF-like #17	Ca2+ binding	Small rearrangement		Stop at 1325	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2678 FRA01BOU F0941 I0977 Female Heterozygous FRANCE NA 207
p.His1331ThrfsX19	c.3989dup	32	1330	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1349	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2042 USA15BOS F0001 I0001 Male Heterozygous U.S.A. NA 186
p.Asn1332ThrfsX82	c.3993_3994dup	32	1332	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1413	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 647 FRA01BOU F0262 I0301 Male Heterozygous FRANCE NA 64
p.Ser1349ArgfsX12	c.4046dup	32	1349	cb EGF-like #18	Ca2+ binding	Small rearrangement	Fr.	Stop at 1360	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1631 FRA01BOU F0418 I0456 Male Heterozygous FRANCE NA 145
p.Cys1429LeufsX2	c.4283dup	34	1428	cb EGF-like #20	Ca2+ binding	Small rearrangement	Fr.	Stop at 1430	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1838 JAP01YOK F0012 I0001 NA Heterozygous JAPAN NA 149
p.Pro1437ArgfsX5	c.4304_4307dup	34	1436	cb EGF-like #20		Small rearrangement	Fr.	Stop at 1441	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1866 CHI06FUJ F0003 I0001 NA Homozygous CHINA NA 165
p.Arg1541AspfsX42	c.4616_4620dup	37	1541	TGFBP#04	RGD	Small rearrangement	Fr.	Stop at 1582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1688 NOR01OSL F0018 I0001 NA Heterozygous NORWAY NA 148
p.Ala1548LeufsX41	c.4619_4641dup	37	1548	TGFBP#04		Small rearrangement	Fr.	Stop at 1588	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1278 GER03HAN F0044 I01 NA Heterozygous GERMANY NA 133
p.Val1555SerfsX14	c.4661dup	37	1554	TGFBP#04		Small rearrangement	Fr.	Stop at 1568	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2012 TAI01TAI F0032 I0001 NA Heterozygous TAIWAN NA 183 2343 FRA01BOU F0599 I0636 Female Heterozygous FRANCE NA 207
p.Gly1556ValfsX26	c.4665_4666dup	37	1556	TGFBP#04		Small rearrangement		Stop at 1581	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2507 FRA01BOU F0762 I0799 Male Heterozygous FRANCE NA 207
p.Ala1569LysfsX13	c.4703_4704dup	37	1569	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1581	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 423 ITA01FLO F0005 I04 Female Heterozygous ITALIA NA 93
p.Ala1569SerfsX7	c.4704dup	37	1569	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1575	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1874 ITA01FLO F0101 I0001 NA Heterozygous ITALIA NA 146
p.Cys1574TrpfsX15	c.4699_4721dup	37	1574	TGFBP#04	C in disulfide bonds 1549-1574	Small rearrangement	Fr.	Stop at 1588	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 519 BEL01GHE F0072 I0915 Male Heterozygous BELGIUM NA 89
p.Asn1624GlnfsX18	c.4869dup	39	1624	cb EGF-like #23	Ca2+ binding	Small rearrangement		Stop at 1641	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2395 FRA01BOU F0652 I0689 Female Heterozygous FRANCE NA 207
p.Asp1689GlyfsX14	c.5065dup	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1702	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 424 ITA01FLO F0006 I06 Male Heterozygous ITALIA NA 93 1875 ITA01FLO F0093 I0001 NA Heterozygous ITALIA NA 146
p.Phe1712TrpfsX27	c.5122_5134dup	41	1712	TGFBP#05		Small rearrangement		Stop at 1738	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2402 FRA01BOU F0659 I0696 Female Heterozygous FRANCE NA 207
p.Asn1713IlefsX23	c.5134_5137dup	41	1713	TGFBP#05	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1735	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9 USA01BAL F0009 I03 Male Heterozygous U.S.A NA 4
p.Cys1719TrpfsX175	c.5157insGG	41	1719	TGFBP#05	C in disulfide bonds 1695-1719	Small rearrangement	Fr.	Stop at 1893	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2073 SWI01ZUR F0037 I01 NA Heterozygous SWITZERLAND NA 188
p.Glu1734_Gln1735insGln	c.5203insCAA	41	1735	TGFBP#05		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2162 FRA02PAR F0028 I0001 NA Heterozygous FRANCE NA 200
p.Cys1748HisfsX147	c.5236_5240dup	42	1747	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1894	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 248 USA03STA F0036 I01 NA Heterozygous U.S.A NA 54
p.Cys1824_Gly1829dup	c.5470_5484dup	44	1829	cb EGF-like #26	Domain-domain packing	Small rearrangement	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 FRA01BOU F0168 I0207 Male Heterozygous FRANCE NA 64 518 BEL01GHE F0071 I1804 Male Heterozygous BELGIUM NA 89
p.Asp1834X	c.5499dup	44	1834	cb EGF-like #26	Ca2+ binding	Small rearrangement	Fr.	Stop at 1834	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 433 BEL01GHE F0060 I1988 Female Heterozygous BELGIUM NA 89
p.Ser1830_Gly1838dup	c.5488_5511dup	44	1838	cb EGF-like #26	conserved AA in cbEGF-like	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1970 GER03HAN F0082 I0022 NA Heterozygous GERMANY NA 182
p.Asn1848AlafsX46	c.5538_5539dup	44	1847	cb EGF-like #26	Disulfide bonds 1835-1847 (C6)	Small rearrangement	Fr.	Stop at 1893	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1135 GER01BER F0071 I0001 NA Heterozygous GERMANY NA 129
p.Cys1895PhefsX36	c.5684insTT	46	1895	cb EGF-like #28	Disulfide bonds 1895-1905 (C1)	Small rearrangement	Fr.	Stop at 1930	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2110 KOR01SEO F0031 I0001 NA Heterozygous S. KOREA NA 189 2111 KOR01SEO F0032 I0001 NA Heterozygous S. KOREA NA 189
p.Glu1976MetfsX5	c.5924_5925dup	48	1976	cb EGF-like #30	Ca2+ binding	Small rearrangement	Fr.	Stop at 1980	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2076 SWI01ZUR F0040 I01 NA Heterozygous SWITZERLAND NA 188
p.Tyr2062X	c.6185dup	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2062	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 254 USA03STA F0042 I01 NA Heterozygous U.S.A NA 54 1015 FRA01BOU F0289 I0328 Male Heterozygous FRANCE NA 145
p.His2078SerfsX27	c.6231dup	50	2078	TGFBP#06	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2104	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 469 GER01BER F0025 I30 Male Heterozygous GERMANY NA 95
p.Cys2096LeufsX9	c.6285dup	50	2096	TGFBP#06	C in disulfide bonds 2070-2096	Small rearrangement	Fr.	Stop at 2104	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 595 USA03STA F0080 I1220 NA Heterozygous U.S.A Type II 104
p.Cys2137SerfsX24	c.6405_6406dup	52	2136	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2141 USA17HER F0001 I0001 Female Heterozygous U.S.A. NA 199
p.Cys2137_Lys2138dup	c.6409_6411dup	52	2138	cb EGF-like #32		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 513 FRA01BOU F0150 I0189 Female Heterozygous FRANCE NA 64
p.Asp2257GlufsX35	c.6769_6770dup	55	2257	cb EGF-like #35		Small rearrangement	Fr.	Stop at 2291	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2893 BEL01GHE F0202 I0001 NA Heterozygous BELGIUM NA 225
p.Cys2318TrpfsX6	c.6935_6953dup	56	2318	cb EGF-like#36	Disulfide bonds 2318-2331 (C5)	Small rearrangement	Fr.	Stop at 2323	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 713 FRA01BOU F0244 I0283 Female Heterozygous FRANCE NA 145
p.Arg2355LysfsX12	c.7063dup	57	2355	TGFBP #07		Small rearrangement	Fr.	Stop at 2366	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2079 SWI01ZUR F0043 I01 NA Heterozygous SWITZERLAND NA 188
p.Pro2373SerfsX4	c.7116dup	57	2373	TGFBP #07		Small rearrangement	Fr.	Stop at 2376	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 553 USA04NOR F0020 I3484 Male Heterozygous U.S.A NA 102
p.Asp2559GlyfsX8	c.7675dup	61	2559	cb EGF-like #40		Small rearrangement		Stop at 2566	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2651 FRA01BOU F0913 I0949 Male Heterozygous FRANCE NA 207
p.Asn2583ArgfsX100	c.7746_7747dup	62	2583	cb EGF-like #41	Ca2+ binding	Small rearrangement		Stop at 2682	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2277 FRA01BOU F0533 I0570 Male Heterozygous FRANCE NA 207
p.Gln2598ProfsX10	c.7790dup	62	2597	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2607	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 298 JAP03OSA F0009 I0001 Male Heterozygous JAPAN NA 55
p.Asp2607X	c.7818dup	62-63	2607	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2607	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 575 UKD04OXF F0020 I42 NA Heterozygous U.K. NA 88
p.Asn2609LysfsX32	c.7826dup	63	2609	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2640	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1944 CHI01HKO F0022 I0001 NA Heterozygous CHINA NA 181
p.His2623GlnfsX18	c.7868dup	63	2623	cb EGF-like #42	Ca2+ binding	Small rearrangement		Stop at 2640	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2259 FRA01BOU F0514 I0551 Male Heterozygous FRANCE NA 207
p.Lys2630ThrfsX53	c.7885_7886dup	63	2629	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2682	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1557 ITA01FLO F0083 I01 NA Heterozygous ITALIA NA 146
p.Lys2630ThrfsX53	c.7887_7888dup	63	2630	cb EGF-like #42	Ca2+ binding	Small rearrangement		Stop at 2682	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2351 FRA01BOU F0607 I0644 Female Heterozygous FRANCE NA 207
p.Cys2659LeufsX46	c.7974dup	63	2659	cb EGF-like #43	Disulfide bonds 2659-2672 (C2)	Small rearrangement	Fr.	Stop at 2704	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 812 BEL01GHE F0156 I01 NA Heterozygous BELGIUM NA 122
p.Gly2673AlafsX34	c.8011_8017dup	63	2673	cb EGF-like #43	Ca2+ binding	Small rearrangement	Fr.	Stop at 2706	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1868 GER05DOR F0017 I0001 NA Heterozygous GERMANY NA 147
p.Gly2677TrpfsX28	c.8027dup	63	2676	cb EGF-like #43		Small rearrangement	Fr.	Stop at 2704	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 608 GER03HAN F0020 I14 Female Heterozygous GERMANY NA 107
p.Gly2682ArgfsX23	c.8043dup	63	2682	cb EGF-like #43		Small rearrangement		Stop at 2704	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2382 FRA01BOU F0639 I0676 Male Heterozygous FRANCE NA 207
p.Tyr2716X	c.8147dup	64	2716	FibuCTDIII-like motif		Small rearrangement		Stop at 2716	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2393 FRA01BOU F0650 I0687 Male Heterozygous FRANCE NA 207
p.Thr2736AsnfsX2	c.8206dup	64	2736	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2737	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3357 USA22DAL F0001 I0001 Female Heterozygous U.S.A. NA 283
p.Ile2763AsnfsX11	c.8287dup	65	2763	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2773	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1067 AUS02WES F0037 I01 NA Heterozygous AUSTRALIA NA 134
p.Ser2813GlnfsX21	c.8436dup	65	2813	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2833	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 525 SWI01ZUR F0006 I01 NA Heterozygous SWITZERLAND NA 98
p.Lys2840GlufsX4	c.8516dup	65	2839	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2843	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 778 BEL01GHE F0105 I01 NA Heterozygous BELGIUM NA 121
p.Glu2846ArgfsX5	c.8534dup	65	2845	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2850	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 659 FRA01BOU F0200 I0239 Male Heterozygous FRANCE NA 64