The UMD-FBN1 mutations database
Mutations associated with phenotype: CNS-Lumbosacral dural ectasia

    Request ID: 3-4

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu17X	c.50delT	1	17	Signal peptide		Small rearrangement	Fr.	Stop at 17	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 649 FRA01BOU F0213 I0252 Female Heterozygous FRANCE NA 64
p.Ala42ProfsX66	c.124delG	1	42	NH2 unique region	N-Term Furine/Pace site	Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 436 BEL01GHE F0063 I1656 Male Heterozygous BELGIUM NA 89
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 287 UKD04OXF F0001 I01 NA Heterozygous U.K. Type I or II ? 58 1918 UKD07WIL F0094 I0001 Male Heterozygous U.K. NA 178 2185 FRA04DIJ F0001 I0001 Female Heterozygous FRANCE NA 256
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 416 BEL01GHE F0051 I2903 Female Heterozygous BELGIUM NA 89
p.Cys123Tyr	c.368G>A	4	123	EGF-like #02	Disulfide bonds 123-134 (C2)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 896 ITA02PAV F0010 I01 Female Heterozygous ITALIA NA 125 1481 ITA01FLO F0011 I01 NA Heterozygous ITALIA NA 146
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.Cys177Tyr	c.530G>A	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1484 ITA01FLO F0014 I01 NA Heterozygous ITALIA NA 146
p.Cys224Arg	c.670T>C	6	224	Hybrid module#01		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 898 ITA02PAV F0012 I01 Male Heterozygous ITALIA NA 125
p.Arg240His	c.719G>A	6	240	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2038 NET04NIJ F0003 I0001 Female Heterozygous NETHERLAND NA 184
	c.IVS6-1G>A (c.737-1G>A)	6-7	246	cb EGF-like #01	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 195 FRA01BOU F0120 I0158 Male Heterozygous FRANCE NA 64
p.Gln348X	c.1042C>T	9	348	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1487 ITA01FLO F0017 I01 NA Heterozygous ITALIA NA 146
p.Arg364X	c.1090C>T	9	364	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 484 FRA01BOU F0169 I0208 Male Heterozygous FRANCE NA 64
p.Trp366Cys	c.1098G>T	9	366	TGFBP#01		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 417 BEL01GHE F0052 I3372 Female Heterozygous BELGIUM NA 89
p.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 FRA01BOU F0123 I0161 Female Heterozygous FRANCE NA 64
p.Cys488Arg	c.1462T>C	11	488	EGF-like #04	Disulfide bonds 476-488 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1490 ITA01FLO F0020 I01 NA Heterozygous ITALIA NA 146
p.Arg516X	c.1546C>T	12	516	cb EGF-like #03		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 657 FRA01BOU F0166 I0205 Female Heterozygous FRANCE NA 64
p.Cys576Tyr	c.1727G>A	14	576	cb EGF-like #05	Disulfide bonds 576-587 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1498 ITA01FLO F0027 I01 NA Heterozygous ITALIA NA 146
p.Cys582Arg	c.1744T>C	14	582	cb EGF-like #05	Disulfide bonds 582-596 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1497 ITA01FLO F0026 I01 NA Heterozygous ITALIA NA 146
p.Asn589Ser	c.1766A>G	14	589	cb EGF-like #05	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1905 ITA01FLO F0089 I0001 Female Heterozygous ITALIA NA 175
p.Cys598Trp	c.1794C>G	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 134 BEL01GHE F0006 I01 Female Heterozygous BELGIUM NA 89
p.Cys623Phe	c.1868G>T	15	623	cb EGF-like #06	Disulfide bonds 623-637 (C2)	Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1499 ITA01FLO F0028 I01 NA Heterozygous ITALIA NA 146 2843 USA09FAR F0004 I01 Male Heterozygous U.S.A. NA 210
p.Tyr635Cys	c.1904A>G	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 644 FRA01BOU F0211 I0250 Male Heterozygous FRANCE NA 64
p.Met657AlafsX23	c.1969_1970delAT	16	657	TGFBP#02		Small rearrangement	Fr.	Stop at 679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 504 FRA01BOU F0148 I0187 Male Heterozygous FRANCE NA 64
p.Ala686Asp	c.2057C>A	16	686	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 626 FRA01BOU F0170 I0209 Male Heterozygous FRANCE NA 64
	c.IVS18-1G>A (c.2294-1G>A)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 316 AUS01NAD F0014 I13 Female Heterozygous AUSTRALIA NA 71
p.Cys853AlafsX19	c.2557delT	21	853	Hybrid motif #02		Small rearrangement	Fr.	Stop at 871	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 628 FRA01BOU F0212 I0251 Male Heterozygous FRANCE NA 64
p.Glu863X	c.2586dup	21	863	Hybrid motif #02		Small rearrangement	Fr.	Stop at 863	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 434 BEL01GHE F0061 I2034 Male Heterozygous BELGIUM NA 89
p.Cys875Arg	c.2623T>C	21	875	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 496 FRA01BOU F0134 I0173 Male Heterozygous FRANCE NA 64
p.Gly880Ser	c.2638G>A	21	880	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1505 ITA01FLO F0033 I01 NA Heterozygous ITALIA NA 146
p.Glu913Gly	c.2738A>G	23	913	cb EGF-like #10	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 429 BEL01GHE F0056 I4278 Female Heterozygous BELGIUM NA 89
p.Val984Ile	c.2950G>A	24	984	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 150 GER02MUN F0001 I01 Male Heterozygous GERMANY NA 32
p.Leu1080SerfsX8	c.3238delC	26	1080	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 500 FRA01BOU F0159 I0198 Female Heterozygous FRANCE NA 64
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 714 FRA01BOU F0273 I0312 Male Heterozygous FRANCE NA 145
p.Asp1115Gly	c.3344A>G	27	1115	cb EGF-like #13	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 333 GER01BER F0007 I27 Female Heterozygous GERMANY NA 80
p.Cys1117Tyr	c.3350G>A	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 28 USA03STA F0002 I783 Female Heterozygous U.S.A Type IV d 12
p.Arg1125X	c.3373C>T	27	1125	cb EGF-like #13		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 547 USA04NOR F0014 I3599 Male Heterozygous U.S.A NA 102 1513 ITA01FLO F0041 I01 NA Heterozygous ITALIA NA 146
p.Tyr1136X	c.3408C>G	27	1136	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1514 ITA01FLO F0042 I01 NA Heterozygous ITALIA NA 146
p.Tyr1178Cys	c.3533A>G	28	1178	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 632 FRA01BOU F0258 I0297 Male Heterozygous FRANCE NA 64
p.Cys1254Ser	c.3761G>C	30	1254	cb EGF-like #16	Disulfide bonds 1242-1254 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 528 KOR01SEO F0001 I01 Male Heterozygous S. KOREA NA 100
p.Cys1307Tyr	c.3920G>A	31	1307	cb EGF-like #17	Disulfide bonds 1307-1320 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 631 FRA01BOU F0171 I0210 Male Heterozygous FRANCE NA 64
p.Leu1421Phe	c.4261C>T	34	1421	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 530 KOR01SEO F0003 I01 Male Heterozygous S. KOREA NA 100
p.Pro1453ArgfsX22	c.4356delT	35	1452	cb EGF-like #21		Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 495 FRA01BOU F0152 I0191 Female Heterozygous FRANCE NA 64
p.Asp1487PhefsX2	c.4459insTTTTAG	35-36	1487	cb EGF-like #22	Ca2+ binding	Large rearrangement	Fr.	Stop at 1488	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1904 ITA01FLO F0088 I0001 Female Heterozygous ITALIA NA 175
p.Cys1526Ser	c.4577G>C	36	1526	cb EGF-like #22	Disulfide bonds 1513-1526 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1906 ITA01FLO F0090 I0001 Female Heterozygous ITALIA NA 175
p.Arg1539X	c.4615C>T	37	1539	TGFBP#04		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 389 BEL01GHE F0024 I1183 Female Heterozygous BELGIUM NA 89 1518 ITA01FLO F0046 I01 NA Heterozygous ITALIA NA 146
p.Cys1564Tyr	c.4691G>A	37	1564	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 701 AUS02WES F0015 I01 NA Heterozygous AUSTRALIA NA 114
p.Arg1596X	c.4786C>T	38	1596	TGFBP#04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 388 BEL01GHE F0023 I1766 Female Heterozygous BELGIUM NA 89
p.Cys1646Arg	c.4936T>C	39	1646	cb EGF-like #23	Disulfide bonds 1633-1646 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1908 ITA01FLO F0091 I0001 NA Heterozygous ITALIA NA 175
p.Asp1689GlyfsX14	c.5065dup	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1702	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 424 ITA01FLO F0006 I06 Male Heterozygous ITALIA NA 93
	c.IVS40+3del5 (c.5065+3del5)	40-41	1689	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Tv	del5	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 710 AUS02WES F0024 I01 NA Heterozygous AUSTRALIA NA 114
p.Arg1692SerfsX21	c.5076_5082del	41	1692	TGFBP#05		Small rearrangement	Fr.	Stop at 1712	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 425 ITA01FLO F0007 I04 Female Heterozygous ITALIA NA 93
p.Cys1770Phe	c.5309G>T	43	1770	cb EGF-like #25	Disulfide bonds 1770-1782 (C1)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 310 AUS01NAD F0021 I25 Female Heterozygous AUSTRALIA NA 114
p.Asn1779MetfsX114	c.5336delA	43	1779	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1525 ITA01FLO F0053 I01 NA Heterozygous ITALIA NA 146
p.Cys1782Arg	c.5344T>C	43	1782	cb EGF-like #25	Disulfide bonds 1770-1782 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 511 FRA01BOU F0143 I0182 Male Heterozygous FRANCE NA 64
p.Arg1790Pro	c.5369G>C	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 407 BEL01GHE F0042 I1597 Male Heterozygous BELGIUM NA 89
p.Cys1824_Gly1829dup	c.5470_5484dup	44	1829	cb EGF-like #26	Domain-domain packing	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 FRA01BOU F0168 I0207 Male Heterozygous FRANCE NA 64
p.Cys1835Tyr	c.5504G>A	44	1835	cb EGF-like #26	Disulfide bonds 1835-1847 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 406 BEL01GHE F0041 I1506 Male Heterozygous BELGIUM NA 89
p.Cys1916Ser	c.5746T>A	46	1916	cb EGF-like #28	Disulfide bonds 1916-1928 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 514 FRA01BOU F0119 I0157 Male Heterozygous FRANCE NA 64
	c.IVS46+5G>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
p.Cys2038Phe	c.6113G>T	49	2038	cb EGF-like #31	Disulfide bonds 2024-2038 (C4)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 488 FRA01BOU F0164 I0203 Female Heterozygous FRANCE NA 64
p.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.Cys2084Tyr	c.6251G>A	50	2084	TGFBP#06	C in disulfide bonds 2084-2099	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1541 ITA01FLO F0069 I01 NA Heterozygous ITALIA NA 146
p.Thr2101Lys	c.6302C>A	50	2101	TGFBP#06		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 357 FRA01BOU F0122 I0160 Male Heterozygous FRANCE NA 64
p.Ile2118Ile	c.6354C>T	51	2118	TGFBP#06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1542 ITA01FLO F0070 I01 NA Heterozygous ITALIA NA 146
	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
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.Gly2140Arg	c.6418G>A	52	2140	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1896 FRA03MON F0055 I0001 Female Heterozygous FRANCE NA 191
p.Glu2194X	c.6580G>T	53	2194	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2974 SPA01MAD F0001 I0003 Female Heterozygous SPAIN NA 235
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 499 FRA01BOU F0154 I0193 Female Heterozygous FRANCE NA 64
p.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.Cys2470Tyr	c.7409G>A	59	2470	cb EGF-like #38	Disulfide bonds 2470-2483 (C5)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3202 CAN02VAN F0001 I0002 Male Heterozygous CANADA NA 254 3203 CAN02VAN F0001 I0003 Female Heterozygous CANADA NA 254
p.Asp2485Val	c.7454A>T	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3000 NET03LEI F0002 I0001 Male Homozygous TURKEY NA 270 3004 NET03LEI F0002 I0004 Female Heterozygous TURKEY NA 219
p.Thr2561Pro	c.7681A>C	61	2561	cb EGF-like #40		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1554 ITA01FLO F0080 I01 NA Heterozygous ITALIA NA 146
p.Glu2570Lys	c.7708G>A	62	2570	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1555 ITA01FLO F0080 I01 NA Heterozygous ITALIA NA 146
p.Arg2576Cys	c.7726C>T	62	2576	cb EGF-like #41		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3194 USA20SAN F0001 I0001 Female Homozygous MEXICO NA 252
p.Gly2586Trp	c.7756G>T	62	2586	cb EGF-like #41	Domain-domain packing	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 652 FRA01BOU F0186 I0225 Female Heterozygous FRANCE NA 64
p.Lys2719AspfsX18	c.8155_8156delAA	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2736	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2850 GER01BER F0072 I0001 Female Heterozygous GERMANY NA 218
p.Arg2726GlufsX9	c.8174_8181del	64	2725	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2734	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3231 JAP02TOK F0045 I0001 Female Heterozygous JAPAN NA 269
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.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
p.Gln2867X	c.8599C>T	65	2867	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 654 FRA01BOU F0220 I0259 Female Heterozygous FRANCE NA 64