The UMD-FBN1 mutations database
Small deletions (331 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1_4delATGC	1	1	Signal peptide		Small rearrangement	Fr.	Stop at 16	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2273 FRA01BOU F0529 I0566 Male Heterozygous FRANCE NA 207
p.Leu11TrpfsX7	c.31delC	1	11	Signal peptide		Small rearrangement	Fr.	Stop at 17	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 755 BEL01GHE F0080 I01 NA Heterozygous BELGIUM NA 121
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.Ala18ArgfsX17	c.52delG	1	18	Signal peptide		Small rearrangement	Fr.	Stop at 34	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 723 BEL01GHE F0110 I01 NA Heterozygous BELGIUM NA 122
p.Ser22AlafsX13	c.64delA	1	22	Signal peptide		Small rearrangement	Fr.	Stop at 34	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1925 CHI01HKO F0003 I0001 NA Heterozygous CHINA NA 181
p.Ala42ProfsX66	c.124delG	1	42	NH2 unique region	N-Term Furine/Pace site	Small rearrangement	Fr.	Stop at 107	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 436 BEL01GHE F0063 I1656 Male Heterozygous BELGIUM NA 89 2621 FRA01BOU F0880 I0916 Female Heterozygous FRANCE NA 207
p.Gly49ThrfsX5	c.144_145delAG	1	48	NH2 unique region		Small rearrangement	Fr.	Stop at 53	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1480 ITA01FLO F0010 I01 NA Heterozygous ITALIA NA 146
p.Tyr66ThrfsX42	c.196delT	2	66	4-cys motif LTBP-like		Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3137 CHI08BEI F0007 I0001 Male Heterozygous CHINA NA 244
p.Pro69LeufsX39	c.206delC	2	69	4-cys motif LTBP-like		Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3297 NET05GRO F0049 I0001 NA Heterozygous NETHERLAND NA 272
p.Gln79SerfsX29	c.235delC	2	79	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2715 FRA01BOU F0981 I1017 Male Heterozygous FRANCE NA 207
p.Ile84PhefsX24	c.249delC	2-3	83	EGF-like #01		Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2392 FRA01BOU F0649 I0686 Male Heterozygous FRANCE NA 207
p.Ile116TyrfsX9	c.345delC	3	115	EGF-like #02		Small rearrangement	Fr.	Stop at 124	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2681 FRA01BOU F0944 I0980 Female Heterozygous FRANCE NA 207
p.Arg122LeufsX6	c.365_366delGC	4	122	EGF-like #02		Small rearrangement	Fr.	Stop at 127	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 687 AUS02WES F0002 I01 NA Heterozygous AUSTRALIA NA 114
p.Ser130ArgfsX12	c.390delT	4	130	EGF-like #02		Small rearrangement	Fr.	Stop at 141	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 437 BEL01GHE F0064 I1548 Male Heterozygous BELGIUM NA 89
p.Tyr170ThrfsX20	c.508delT	5	170	EGF-like#03		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2048 SWI01ZUR F0011 I01 NA Heterozygous SWITZERLAND NA 188
p.Gln176SerfsX14	c.526delC	5	176	EGF-like#03		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 492 FRA01BOU F0147 I0186 Female Heterozygous FRANCE NA 64
p.Pro185HisfsX5	c.554delC	6	185	Hybrid module#01		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 818 UKD05LON F0026 I01 NA Heterozygous U.K. NA 96
p.Met194CysfsX136	c.579delG	6	193	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2231 FRA01BOU F0487 I0524 Female Heterozygous FRANCE NA 207
p.Lys206AsnfsX124	c.618delA	6	206	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1672 NOR01OSL F0002 I0001 NA Heterozygous NORWAY NA 148
p.Gln207ArgfsX123	c.620delA	6	207	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 819 UKD05LON F0027 I01 NA Heterozygous U.K. NA 96
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 354 FRA01BOU F0142 I0181 Female Heterozygous FRANCE NA 64 1073 AUS02WES F0043 I01 NA Heterozygous AUSTRALIA NA 134 1485 ITA01FLO F0015 I01 NA Heterozygous ITALIA NA 146 3199 ITA01FLO F0108 I0001 Male Heterozygous ITALIA NA 253
p.Trp217LeufsX2	c.649_659del	6	217	Hybrid module#01		Small rearrangement	Fr.	Stop at 218	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1016 FRA01BOU F0286 I0325 Male Heterozygous FRANCE NA 145
p.His219ProfsX111	c.656delA	6	219	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 579 USA03STA F0067 I807 NA Heterozygous U.S.A Type I 104 3298 NET05GRO F0050 I0001 NA Heterozygous NETHERLAND NA 272
p.Phe235TyrfsX14	c.704_705delTC	6	235	Hybrid module#01		Small rearrangement	Fr.	Stop at 248	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1720 UKD07WIL F0004 I0001 NA Heterozygous U.K. NA 157
p.Ala252GlyfsX10	c.755_762del	7	252	cb EGF-like #01		Small rearrangement	Fr.	Stop at 261	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 225 USA03STA F0013 I01 NA Heterozygous U.S.A NA 54
p.Asn306ThrfsX24	c.917delA	8	306	cb EGF-like #02	Ca2+ binding	Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2050 SWI01ZUR F0013 I01 NA Heterozygous SWITZERLAND NA 188
p.Ser310ThrfsX19	c.929_932delGTTA	8	310	cb EGF-like #02	Ca2+ binding	Small rearrangement	Fr.	Stop at 328	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2727 FRA01BOU F0993 I1029 Male Heterozygous FRANCE NA 207
p.Cys313AlafsX17	c.937delT	8	313	cb EGF-like #02	Disulfide bonds 299-313 (C4)	Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1830 JAP01YOK F0004 I0001 NA Heterozygous JAPAN NA 149
p.Lys314AsnfsX16	c.942delA	8	314	cb EGF-like #02	Ca2+ binding	Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2368 FRA01BOU F0625 I0662 Female Heterozygous FRANCE NA 207
p.Pro317LeufsX13	c.945delT	8	315	cb EGF-like #02	Disulfide bonds 315-328 (C5)	Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2089 KOR01SEO F0008 I0001 NA Heterozygous S. KOREA NA 189
p.Thr326ProfsX4	c.976delA	8	326	cb EGF-like #02		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 549 USA04NOR F0012 I3524 Female Heterozygous U.S.A NA 102
p.Gly334AlafsX37	c.1001_1073del	9	334	TGFBP#01		Small rearrangement	Fr.	Stop at 370	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2572 FRA01BOU F0831 I0867 Male Heterozygous FRANCE NA 207
p.Gln351SerfsX3	c.1050delA	9	350	TGFBP#01		Small rearrangement	Fr.	Stop at 353	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2318 FRA01BOU F0575 I0612 Female Heterozygous FRANCE NA 207
p.Met356CysfsX39	c.1066delA	9	356	TGFBP#01	C in disulfide bonds 345-356	Small rearrangement	Fr.	Stop at 394	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1488 ITA01FLO F0018 I01 NA Heterozygous ITALIA NA 146
p.Cys359_Ala362del	c.1075_1086del	9	359	TGFBP#01	C in disulfide bonds 359-377	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2453 FRA01BOU F0709 I0746 Male Heterozygous FRANCE NA 207
p.Glu375ArgfsX20	c.1122delT	9	374	TGFBP#01		Small rearrangement	Fr.	Stop at 394	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 826 UKD05LON F0034 I01 NA Heterozygous U.K. NA 96 1722 UKD07WIL F0006 I0001 NA Heterozygous U.K. NA 157
p.Thr382ProfsX13	c.1144delA	9	382	TGFBP#01		Small rearrangement	Fr.	Stop at 394	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3301 NET05GRO F0053 I0001 NA Heterozygous NETHERLAND NA 272
p.Ser390CysfsX61	c.1169_1170delCT	10	390	TGFBP#01		Small rearrangement	Fr.	Stop at 450	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1597 FRA01BOU F0329 I0367 Male Heterozygous FRANCE NA 145
p.Pro404HisfsX44	c.1206delT	10	402	Proline-rich		Small rearrangement	Fr.	Stop at 447	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2051 SWI01ZUR F0014 I01 NA Heterozygous SWITZERLAND NA 188
p.Ile409PhefsX39	c.1224delC	10	408	Proline-rich		Small rearrangement	Fr.	Stop at 447	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1438 FRA01BOU F0294 I0333 Male Heterozygous FRANCE NA 145
p.Pro437HisfsX11	c.1310delC	10	437	Proline-rich		Small rearrangement	Fr.	Stop at 447	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2664 FRA01BOU F0927 I0963 Male Heterozygous FRANCE NA 207
p.Tyr452ThrfsX127	c.1354delT	11	452	EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1723 UKD07WIL F0007 I0001 Female Heterozygous U.K. NA 157
p.Cys474_Asp490delinsTyr	c.1421_1468del	11	474	EGF-like #04	Disulfide bonds 460-474 (C4)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 128 FIN01HEL F0020 I01 Male Heterozygous FINLAND NA 68
p.Gln481AlafsX9	c.1441_1442delCA	11	481	EGF-like #04		Small rearrangement	Fr.	Stop at 489	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1929 CHI01HKO F0007 I0001 NA Heterozygous CHINA NA 181
p.Asp490ValfsX89	c.1469delA	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 692 AUS02WES F0006 I01 NA Heterozygous AUSTRALIA NA 114
p.Asn506ThrfsX73	c.1517delA	12	506	cb EGF-like #03	Ca2+ binding	Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2266 FRA01BOU F0521 I0558 Female Heterozygous FRANCE NA 207
p.Asn507ArgfsX71	c.1519_1522delAACC	12	507	cb EGF-like #03	Ca2+ binding	Small rearrangement	Fr.	Stop at 577	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1092 GER03HAN F0027 I01 NA Heterozygous GERMANY NA 133
p.Gln508ArgfsX71	c.1522delC	12	508	cb EGF-like #03	Ca2+ binding	Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2053 SWI01ZUR F0016 I01 NA Heterozygous SWITZERLAND NA 188
p.Tyr511ThrfsX68	c.1531delT	12	511	cb EGF-like #03	Ca2+ binding	Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3127 GER03HAN F0105 I0001 Female Heterozygous GERMANY NA 243
p.Thr526GlnfsX53	c.1575delG	12	525	cb EGF-like #03		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1039 BEL01GHE F0165 I01 NA Heterozygous BELGIUM NA 122
p.Leu535TyrfsX44	c.1604delT	13	535	cb EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 51 USA01BAL F0015 I01 NA Heterozygous U.S.A NA 21
p.Asn543LysfsX14	c.1629_1633delTGGAC	13	543	cb EGF-like #04		Small rearrangement	Fr.	Stop at 556	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 693 AUS02WES F0007 I01 NA Heterozygous AUSTRALIA NA 114
p.Arg565GlnfsX14	c.1694delG	13	565	cb EGF-like #04		Small rearrangement	Fr.	Stop at 578	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3232 AUS01VIE F0001 I0001 Male Heterozygous AUSTRIA NA 271 3233 AUS01VIE F0001 I0002 Male Heterozygous AUSTRIA NA 271
p.Asp613ThrfsX12	c.1836delA	14	612	cb EGF-like #05	Ca2+ binding	Small rearrangement	Fr.	Stop at 624	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 102 BRA01SPA F0001 I01 Male Heterozygous BRAZIL NA 39
p.Asn615del	c.1843_1845delAAC	15	615	cb EGF-like #06	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 431 BEL01GHE F0058 I0472 Male Heterozygous BELGIUM NA 89
p.Asn615ThrfsX10	c.1844delA	15	615	cb EGF-like #06	Ca2+ binding	Small rearrangement	Fr.	Stop at 624	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 676 FRA01BOU F0247 I0286 Female Heterozygous FRANCE NA 145
p.Val629_Gly633del	c.1884_1898del	15	628	cb EGF-like #06	Disulfide bonds 617-628 (C3)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 905 ITA02PAV F0019 I01 Female Heterozygous ITALIA NA 125
p.Asn630HisfsX2	c.1888_1889delAA	15	630	cb EGF-like #06	Ca2+ binding	Small rearrangement	Fr.	Stop at 631	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1728 UKD07WIL F0012 I0001 NA Heterozygous U.K. NA 157
p.Tyr635SerfsX78	c.1904_1919del	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Fr.	Stop at 712	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 599 GER03HAN F0012 I05 Female Heterozygous GERMANY NA 107 2056 SWI01ZUR F0020 I01 NA Heterozygous SWITZERLAND NA 188 2057 SWI01ZUR F0021 I01 NA Heterozygous SWITZERLAND NA 188
p.Cys639TrpfsX13	c.1917_1924del	15	639	cb EGF-like #06	Disulfide bonds 639-652 (C5)	Small rearrangement	Fr.	Stop at 651	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 907 ITA02PAV F0021 I01 Male Heterozygous ITALIA NA 125
p.Leu647ValfsX66	c.1939_1954del	15	647	cb EGF-like #06		Small rearrangement	Fr.	Stop at 712	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1606 FRA01BOU F0351 I0389 Male Heterozygous FRANCE NA 145
p.Val653X	c.1957_1958delGT	15	653	cb EGF-like #06		Small rearrangement	Fr.	Stop at 653	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1157 UKD05LON F0122 I01 NA Heterozygous U.K. NA 96 2341 FRA01BOU F0597 I0634 Female Heterozygous FRANCE NA 207
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.Phe675ValfsX42	c.2023_2026delTTTG	16	675	TGFBP#02		Small rearrangement	Fr.	Stop at 716	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1730 UKD07WIL F0014 I0001 Male Heterozygous U.K. NA 157
p.Pro715GlnfsX3	c.2144delC	17	715	TGFBP#02		Small rearrangement	Fr.	Stop at 717	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2481 FRA01BOU F0738 I0775 Female Heterozygous FRANCE NA 207
p.Leu742IlefsX26	c.2223_2235del	18	741	cb EGF-like #07	Ca2+ binding	Small rearrangement	Fr.	Stop at 767	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1060 AUS02WES F0030 I01 NA Heterozygous AUSTRALIA NA 134
p.Thr745IlefsX21	c.2232_2250del	18	744	cb EGF-like #07	Domain-domain packing	Small rearrangement	Fr.	Stop at 765	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1284 FRA01BOU F0300 I0339 Female Heterozygous FRANCE NA 145
p.Asn751AspfsX19	c.2251_2257del	18	751	cb EGF-like #07		Small rearrangement	Fr.	Stop at 769	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 529 KOR01SEO F0002 I01 Male Heterozygous S. KOREA NA 100
p.Asn762ThrfsX10	c.2280delG	18	760	cb EGF-like #07		Small rearrangement	Fr.	Stop at 771	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2356 FRA01BOU F0613 I0650 Male Heterozygous FRANCE NA 207
p.Glu768ValfsX3	c.2303_2306delAATG	19	768	cb EGF-like #08	Ca2+ binding	Small rearrangement	Fr.	Stop at 770	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1454 FRA01BOU F0395 I0433 Female Heterozygous FRANCE NA 145
p.Val770TyrfsX2	c.2308delG	19	770	cb EGF-like #08		Small rearrangement	Fr.	Stop at 771	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1680 NOR01OSL F0010 I0001 NA Heterozygous NORWAY NA 148
p.Val770ThrfsX7	c.2308_2309delGT	19	770	cb EGF-like #08		Small rearrangement	Fr.	Stop at 776	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2714 FRA01BOU F0980 I1016 Male Heterozygous FRANCE NA 207
p.Asn778LysfsX25	c.2334delT	19	778	cb EGF-like #08		Small rearrangement	Fr.	Stop at 802	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 909 ITA02PAV F0023 I01 Male Heterozygous ITALIA NA 125
p.Pro800LeufsX3	c.2399delC	19	800	cb EGF-like #08		Small rearrangement	Fr.	Stop at 802	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 230 USA03STA F0018 I01 NA Heterozygous U.S.A NA 54
p.Leu802GlnfsX45	c.2405delT	19	802	cb EGF-like #08		Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2768 FRA01BOU F1036 I1072 Female Heterozygous FRANCE NA 207
p.Cys805X	c.2412_2413delAT	19	804	cb EGF-like #08		Small rearrangement	Fr.	Stop at 805	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 211 USA08PIT F0002 I01 NA Heterozygous U.S.A NA 49 422 ITA01FLO F0004 I07 Female Heterozygous ITALIA NA 93 1872 ITA01FLO F0021I01 NA Heterozygous ITALIA NA 146
p.Asp807AlafsX40	c.2420delA	19-20	807	cb EGF-like #09	Ca2+ binding	Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1313 FRA01BOU F0291 I0330 Female Heterozygous FRANCE NA 145
p.Asn823ThrfsX24	c.2466delG	20	822	cb EGF-like #09	Ca2+ binding	Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2523 FRA01BOU F0779 I0816 Female Heterozygous FRANCE NA 207
p.Asn823ThrfsX24	c.2468delA	20	823	cb EGF-like #09	Ca2+ binding	Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 695 AUS02WES F0009 I01 NA Heterozygous AUSTRALIA NA 114
p.Glu835_Leu838del	c.2502_2513del	20	834	cb EGF-like #09		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 719 BEL01GHE F0106 I01 NA Heterozygous BELGIUM NA 153
p.Gly851_Thr856delinsAla	c.2552_2566del	21	851	Hybrid motif #02		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1057 AUS02WES F0027 I01 NA Heterozygous AUSTRALIA NA 134
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.Pro886ArgfsX26	c.2657delC	21	886	Hybrid motif #02		Small rearrangement	Fr.	Stop at 911	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 832 UKD05LON F0040 I01 NA Heterozygous U.K. NA 96
p.Cys890X	c.2669_2671delGCC	21	890	Hybrid motif #02		Small rearrangement	InF	Stop at 890	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3236 AUS01VIE F0004 I0001 Female Heterozygous AUSTRIA NA 271 3237 AUS01VIE F0004 I0002 Male Heterozygous AUSTRIA NA 271
p.Ile895_Gly897delinsSer	c.2684_2689del	22	895	Hybrid motif #02		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1736 UKD07WIL F0020 I0001 NA Heterozygous U.K. NA 157
p.Lys904GlufsX7	c.2710_2713delAAAG	22	904	Hybrid motif #02		Small rearrangement	Fr.	Stop at 910	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1317 FRA01BOU F0271 I0310 Female Heterozygous FRANCE NA 145
p.Gly905GlufsX7	c.2712delA	22	904	Hybrid motif #02		Small rearrangement	Fr.	Stop at 911	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2623 FRA01BOU F0882 I0918 Female Heterozygous FRANCE NA 207
p.Ile911_Asp912del	c.2731_2736del	23	911	cb EGF-like #10	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2347 FRA01BOU F0603 I0640 Male Heterozygous FRANCE NA 207
p.Lys922X	c.2764_2780del	23	922	cb EGF-like #10		Small rearrangement	Fr.	Stop at 922	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 747 BEL01GHE F0133 I01 NA Heterozygous BELGIUM NA 122
p.Val927X	c.2779_2780delGT	23	927	cb EGF-like #10	Ca2+ binding	Small rearrangement	Fr.	Stop at 927	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 998 GER01BER F0060 I0001 NA Heterozygous GERMANY NA 129
p.Phe933LeufsX9	c.2799delC	23	933	cb EGF-like #10	Ca2+ binding	Small rearrangement	Fr.	Stop at 941	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2269 FRA01BOU F0524 I0561 Female Heterozygous FRANCE NA 207
p.Met941LeufsX19	c.2820_2823delAATG	23	940	cb EGF-like #10	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 959	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 318 JAP05YON F0002 I0001 Male Heterozygous JAPAN NA 79
p.Ile953ThrfsX8	c.2858delT	24	953	TGFBP#03		Small rearrangement	Fr.	Stop at 960	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2349 FRA01BOU F0605 I0642 Female Heterozygous FRANCE NA 207 2905 BEL01GHE F0217 I0001 NA Heterozygous BELGIUM NA 225
p.Tyr962ArgfsX29	c.2884_2885delTA	24	962	TGFBP#03		Small rearrangement	Fr.	Stop at 990	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3304 NET05GRO F0056 I0001 NA Heterozygous NETHERLAND NA 272
p.Tyr962ThrfsX35	c.2884_2890del	24	962	TGFBP#03		Small rearrangement	Fr.	Stop at 996	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 802 BEL01GHE F0146 I01 NA Heterozygous BELGIUM NA 122
p.Leu969CysfsX30	c.2905delC	24	969	TGFBP#03		Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2478 FRA01BOU F0735 I0772 Male Heterozygous FRANCE NA 207
p.Ile971MetfsX28	c.2913delT	24	971	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 735 BEL01GHE F0122 I01 NA Heterozygous BELGIUM NA 122
p.Trp988X	c.2964_2971del	24	988	TGFBP#03		Small rearrangement	Fr.	Stop at 988	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 836 UKD05LON F0044 I01 NA Heterozygous U.K. NA 96
p.Gly989ValfsX10	c.2966delG	24	989	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 634 FRA01BOU F0229 I0268 Male Heterozygous FRANCE NA 64
p.Phe1026SerfsX9	c.3075delC	24	1025			Small rearrangement	Fr.	Stop at 1034	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2130 USA05HOU F0022 I0001 Female Heterozygous MEXICO NA 194 2803 USA05HOU F0022 I0002 Male Heterozygous MEXICO NA 194 2804 USA05HOU F0022 I0003 Female Heterozygous MEXICO NA 194 2805 USA05HOU F0022 I0004 Male Heterozygous MEXICO NA 194 2806 USA05HOU F0022 I0005 Female Heterozygous MEXICO NA 194 2807 USA05HOU F0022 I0006 Female Heterozygous MEXICO NA 194 2808 USA05HOU F0022 I0007 Male Heterozygous MEXICO NA 194 2809 USA05HOU F0022 I0008 Female Heterozygous MEXICO NA 194 2810 USA05HOU F0022 I0009 Female Heterozygous MEXICO NA 194 2811 USA05HOU F0022 I0010 Male Heterozygous MEXICO NA 194 2812 USA05HOU F0022 I0011 Male Heterozygous MEXICO NA 194 2813 USA05HOU F0022 I0012 Female Heterozygous MEXICO NA 194
p.Ser1037ThrfsX47	c.3110_3122del	25	1037	cb EGF-like #11		Small rearrangement	Fr.	Stop at 1083	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 685 CHI02CHA F0001 I0001 Male Heterozygous CHINA NA 112
p.Ile1048del	c.3142_3144delATT	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 67 USA05HOU F0007 I251 NA Heterozygous U.S.A NA 26
p.Gly1049AlafsX39	c.3146delG	25	1049	cb EGF-like #11	Domain-domain packing	Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1377 UKD05LON F0140 I01 NA Heterozygous U.K. NA 96
p.Glu1065GlyfsX22	c.3191_3194delAAGA	25	1064	cb EGF-like #11		Small rearrangement	Fr.	Stop at 1086	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2063 SWI01ZUR F0027 I01 NA Heterozygous SWITZERLAND NA 188
p.Glu1065LysfsX23	c.3192delA	25	1064	cb EGF-like #11		Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 82 USA02OMA F0005 I554 NA Heterozygous U.S.A NA 35
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.Asp1092ThrfsX15	c.3274delG	26	1092	cb EGF-like #12	Ca2+ binding	Small rearrangement	Fr.	Stop at 1106	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1740 UKD07WIL F0024 I0001 NA Heterozygous U.K. NA 157
p.Asn1110ThrfsX52	c.3329delA	26	1110	cb EGF-like #12		Small rearrangement	Fr.	Stop at 1161	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1959 GER03HAN F0071 I0011 NA Heterozygous GERMANY NA 182
p.Arg1119IlefsX42	c.3355_3358delAGAG	27	1119	cb EGF-like #13		Small rearrangement	Fr.	Stop at 1160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 583 USA03STA F0071 I1103 NA Heterozygous U.S.A Type II 104
p.Leu1122ProfsX40	c.3365delT	27	1122	cb EGF-like #13		Small rearrangement	Fr.	Stop at 1161	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2691 FRA01BOU F0954 I0990 Male Heterozygous FRANCE NA 207
p.His1130IlefsX32	c.3388delC	27	1130	cb EGF-like #13	Ca2+ binding	Small rearrangement	Fr.	Stop at 1161	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 661 FRA01BOU F0217 I0256 Male Heterozygous FRANCE NA 64 769 BEL01GHE F0094 I01 NA Heterozygous BELGIUM NA 121 770 BEL01GHE F0095 I01 NA Heterozygous BELGIUM NA 121 771 BEL01GHE F0096 I01 NA Heterozygous BELGIUM NA 121
p.Glu1133AlafsX3	c.3398_3408del	27	1133	cb EGF-like #13	Ca2+ binding	Small rearrangement	Fr.	Stop at 1135	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2910 BEL01GHE F0222 I0001 NA Heterozygous BELGIUM NA 225
p.His1144_His1144del	c.3432_3434delTCA	27	1144	cb EGF-like #13	conserved AA in cbEGF-like	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2099 KOR01SEO F0018 I0001 NA Heterozygous S. KOREA NA 189
p.Asp1155AlafsX32	c.3464_3480del	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Fr.	Stop at 1186	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 29 USA03STA F0003 I773 NA Heterozygous U.S.A Type II 12
p.Gln1179ArgfsX25	c.3536delA	28	1179	cb EGF-like #14	Ca2+ binding	Small rearrangement	Fr.	Stop at 1203	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3138 CHI08BEI F0008 I0001 Male Heterozygous CHINA NA 244
p.Pro1190IlefsX4	c.3568_3578del	28	1190	cb EGF-like #14		Small rearrangement	Fr.	Stop at 1193	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2067 SWI01ZUR F0031 I01 NA Heterozygous SWITZERLAND NA 188
p.Cys1195ValfsX9	c.3583delT	28	1195	cb EGF-like #14	Disulfide bonds 1182-1195 (C6)	Small rearrangement	Fr.	Stop at 1203	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2600 FRA01BOU F0858 I0894 Male Heterozygous FRANCE NA 207
p.Ser1202_Cys1223del	c.3603_3668del	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 292 FIN01HEL F0021 I01 NA Heterozygous FINLAND NA 61
p.Asn1205ValfsX24	c.3613_3616delAATG	29	1205	cb EGF-like #15		Small rearrangement	Fr.	Stop at 1228	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2684 FRA01BOU F0947 I0983 Male Heterozygous FRANCE NA 207
p.Cys1208LeufsX22	c.3623delG	29	1208	cb EGF-like #15	Disulfide bonds 1208-1221 (C2)	Small rearrangement	Fr.	Stop at 1229	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 137 BEL01GHE F0003 I01 Male Heterozygous BELGIUM NA 89
p.Phe1211SerfsX19	c.3630delC	29	1210	cb EGF-like #15		Small rearrangement	Fr.	Stop at 1229	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 920 ITA02PAV F0034 I01 Male Heterozygous ITALIA NA 125
p.Phe1211_Phe1211del	c.3632_3634delTCT	29	1211	cb EGF-like #15		Small rearrangement	InF	In frame del	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 921 ITA02PAV F0035 I01 Male Heterozygous ITALIA NA 125 1960 GER03HAN F0072 I0012 NA Heterozygous GERMANY NA 182 3289 NET05GRO F0041 I0001 NA Heterozygous NETHERLAND NA 272
p.Glu1220AsnfsX10	c.3658delG	29	1220	cb EGF-like #15	Ca2+ binding	Small rearrangement	Fr.	Stop at 1229	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1934 CHI01HKO F0012 I0001 NA Heterozygous CHINA NA 181
p.Cys1223SerfsX6	c.3667_3670delTGTC	29	1223	cb EGF-like #15	Disulfide bonds 1223-1236 (C5)	Small rearrangement	Fr.	Stop at 1228	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1935 CHI01HKO F0013 I0001 NA Heterozygous CHINA NA 181
p.Gln1253HisfsX23	c.3759delG	30	1253	cb EGF-like #16		Small rearrangement	Fr.	Stop at 1275	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 729 BEL01GHE F0116 I01 NA Heterozygous BELGIUM NA 122
p.Asn1256IlefsX20	c.3767delA	30	1256	cb EGF-like #16	Ca2+ binding	Small rearrangement	Fr.	Stop at 1275	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 585 USA03STA F0073 I1439 NA Heterozygous U.S.A NA 104
p.Cys1278X	c.3834_3838delTGTAG	30	1278	cb EGF-like #16	Disulfide bonds 1265-1278 (C6)	Small rearrangement	Fr.	Stop at 1278	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2759 FRA01BOU F1027 I1063 Female Heterozygous FRANCE NA 207
p.Val1279X	c.3835delG	30	1279	cb EGF-like #16	Ca2+ binding	Small rearrangement	Fr.	Stop at 1279	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 681 FRA01BOU F0157 I0196 Male Heterozygous FRANCE NA 145
p.Pro1288GlnfsX5	c.3863delC	31	1288	cb EGF-like #17	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1292	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2039 NET04NIJ F0003 I0001 Female Heterozygous NETHERLAND NA 184 3306 NET05GRO F0058 I0001 NA Heterozygous NETHERLAND NA 272
p.Phe1303LeufsX110	c.3909delT	31	1303	cb EGF-like #17	Ca2+ binding	Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1477 FRA01BOU F0425 I0462 Female Heterozygous FRANCE NA 145
p.Asn1324MetfsX89	c.3969delC	32	1323	cb EGF-like #18	Ca2+ binding	Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2780 FRA01BOU F1048 I1084 Male Heterozygous FRANCE NA 207
p.Lys1335AsnfsX78	c.4005delA	32	1335	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1747 UKD07WIL F0031 I0001 NA Heterozygous U.K. NA 157
p.Val1338TyrfsX75	c.4011delT	32	1337	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1412	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 103 BRA01SPA F0004 I01 Male Heterozygous BRAZIL NA 39 1084 UKD07CAR F0002 I01 NA Heterozygous U.K. NA 135 2100 KOR01SEO F0019 I0001 NA Heterozygous S. KOREA NA 189
p.Asn1341IlefsX72	c.4020delC	32	1340	cb EGF-like #18	Ca2+ binding	Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 52 USA01BAL F0020 I01 NA Heterozygous U.S.A NA 21
p.Pro1352_Gly1353del	c.4054_4059del	32	1352	cb EGF-like #18		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1288 FRA01BOU F0287 I0326 Female Heterozygous FRANCE NA 145
p.Thr1362ArgfsX49	c.4085_4091del	32	1362	cb EGF-like #18	Ca2+ binding	Small rearrangement	Fr.	Stop at 1410	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 683 FRA01BOU F0278 I0317 Male Heterozygous FRANCE NA 145
p.Leu1390AlafsX22	c.4168_4171delCTGT	33	1390	cb EGF-like #19	Ca2+ binding	Small rearrangement	Fr.	Stop at 1411	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3158 CHI08BEI F0023 I0001 Female Heterozygous CHINA NA 244 3159 CHI08BEI F0023 I0002 Female Heterozygous CHINA NA 244
p.Gly1394AspfsX19	c.4179delA	33	1393	cb EGF-like #19		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 586 USA03STA F0074 I751 NA Heterozygous U.S.A Type II 104
p.Gly1394_Thr1396del	c.4179_4187del	33	1393	cb EGF-like #19		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 308 AUS01NAD F0018 I79 Male Heterozygous AUSTRALIA NA 114
p.Gly1418AlafsX55	c.4253_4259del	34	1418	cb EGF-like #20	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1472	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2128 USA05HOU F0020 I0001 Female Heterozygous U.S.A. NA 193
p.Gln1419_Cys1420del	c.4255_4260del	34	1419	cb EGF-like #20		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1388 UKD05LON F0151 I01 NA Heterozygous U.K. NA 96
p.Pro1424ArgfsX6	c.4269_4270delAC	34	1423	cb EGF-like #20	Ca2+ binding	Small rearrangement	Fr.	Stop at 1429	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1684 NOR01OSL F0014 I0001 NA Heterozygous NORWAY NA 148 2787 FRA01BOU F1055 I1091 Female Heterozygous FRANCE NA 207
p.Cys1450_Cys1450del	c.4349_4351delGCT	35	1450	cb EGF-like #21	Disulfide bonds 1450-1461 (C1)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1320 FRA01BOU F0161 I0200 Male Heterozygous FRANCE NA 145
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.Asn1454ThrfsX21	c.4359delG	35	1453	cb EGF-like #21	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1637 FRA01BOU F0428 I0465 Male Heterozygous FRANCE NA 145
p.Ile1455MetfsX16	c.4365_4366delCT	35	1455	cb EGF-like #21	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1470	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 285 UKD04OXF F0003 I03 NA Heterozygous U.K. Type IV 58
p.Arg1469AlafsX6	c.4405delC	35	1469	cb EGF-like #21	Ca2+ binding	Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1840 JAP01YOK F0014 I0001 NA Heterozygous JAPAN NA 149
p.Glu1473AspfsX17	c.4419_4420delGA	35	1473	cb EGF-like #21		Small rearrangement	Fr.	Stop at 1489	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1686 NOR01OSL F0016 I0001 NA Heterozygous NORWAY NA 155
p.Asn1484ThrfsX5	c.4451delA	35	1484	cb EGF-like #21	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1488	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2068 SWI01ZUR F0032 I01 NA Heterozygous SWITZERLAND NA 188
p.Leu1492TrpfsX28	c.4474delC	36	1492	cb EGF-like #22		Small rearrangement	Fr.	Stop at 1519	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 773 BEL01GHE F0098 I01 NA Heterozygous BELGIUM NA 121
p.Thr1496ArgfsX24	c.4485delC	36	1495	cb EGF-like #22		Small rearrangement	Fr.	Stop at 1519	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 286 UKD04OXF F0004 I04 NA Heterozygous U.K. NA 58
p.Arg1523GlufsX58	c.4567delC	36	1523	cb EGF-like #22		Small rearrangement	Fr.	Stop at 1580	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1754 UKD07WIL F0038 I0001 NA Heterozygous U.K. NA 157
p.Gly1567X	c.4699_4700delGG	37	1567	TGFBP#04		Small rearrangement	Fr.	Stop at 1567	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1755 UKD07WIL F0039 I0001 NA Heterozygous U.K. NA 157
p.Ala1569ProfsX12	c.4704delA	37	1568	TGFBP#04		Small rearrangement	Fr.	Stop at 1580	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 208 AUS01NAD F0009 I01 Male Heterozygous AUSTRALIA NA 56
p.Met1576IlefsX4	c.4728_4731delGTGT	37	1576	TGFBP#04		Small rearrangement	Fr.	Stop at 1579	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2758 FRA01BOU F1026 I1062 Male Heterozygous FRANCE NA 207
p.Ile1603TyrfsX37	c.4807delA	38	1603			Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2491 FRA01BOU F0747 I0784 Female Heterozygous FRANCE NA 207
p.Glu1609GlyfsX31	c.4826delA	39	1609	cb EGF-like #23	Ca2+ binding	Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 204 GER03HAN F0004 I01 Male Heterozygous GERMANY NA 66
p.Gly1620GlufsX20	c.4857delA	39	1619	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 49 USA01BAL F0022 I01 NA Heterozygous U.S.A NA 21
p.Lys1621AsnfsX19	c.4863delA	39	1621	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1303 FRA01BOU F0250 I0289 Female Heterozygous FRANCE NA 145
p.Cys1622LeufsX18	c.4865delG	39	1622	cb EGF-like #23	Disulfide bonds 1610-1622 (C3)	Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2014 TAI01TAI F0034 I0001 NA Heterozygous TAIWAN NA 183
p.Gly1636AlafsX4	c.4905delC	39	1635	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1869 USA12MIA F0001 I0001 Male Heterozygous U.S.A. NA 160
p.Asn1640MetfsX10	c.4917delG	39	1639	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1649	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2503 FRA01BOU F0759 I0796 Female Heterozygous FRANCE NA 207
p.Asn1640LysfsX9	c.4920_4923delTGAA	39	1640	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1648	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 193 USA08PIT F0012 I01 NA Heterozygous U.S.A NA 49
p.Arg1691del	c.5071_5073delAGA	41	1691	TGFBP#05	conserved AA in TGFBP	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1820 GER05DOR F0015 I0001 NA Heterozygous GERMANY NA 147
p.Arg1692del	c.5074_5076delAGA	41	1692	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 849 UKD05LON F0057 I01 NA Heterozygous U.K. NA 96
p.Arg1692_Tyr1699del	c.5074_5097del	41	1692	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 596 FRA02PAR F0001 I0001 Male Heterozygous FRANCE NA 106
p.Arg1692SerfsX21	c.5076_5082del	41	1692	TGFBP#05		Small rearrangement	Fr.	Stop at 1712	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 425 ITA01FLO F0007 I04 Female Heterozygous ITALIA NA 93 1876 ITA01FLO F0094 I0001 NA Heterozygous ITALIA NA 146
p.Leu1694_Cys1695del	c.5079_5084del	41	1693	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2696 FRA01BOU F0961 I0997 Female Heterozygous FRANCE NA 207
p.Thr1715ProfsX178	c.5143delA	41	1715	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2072 SWI01ZUR F0036 I01 NA Heterozygous SWITZERLAND NA 188
p.Arg1771GlyfsX122	c.5311delC	43	1771	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 205 GER03HAN F0003 I01 Female Heterozygous GERMANY NA 66
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.Cys1782SerfsX110	c.5343_5346delGTGT	43	1781	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1891	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 851 UKD05LON F0059 I01 NA Heterozygous U.K. NA 96
p.Cys1833TrpfsX2	c.5499_5503delTGACT	44	1833	cb EGF-like #26	Disulfide bonds 1818-1833 (C4)	Small rearrangement	Fr.	Stop at 1834	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3307 NET05GRO F0059 I0001 NA Heterozygous NETHERLAND NA 272
p.Gln1854LysfsX39	c.5559delT	45	1853	cb EGF-like #27	Disulfide bonds 1853-1865 (C1)	Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1693 NOR01OSL F0023 I0001 NA Heterozygous NORWAY NA 148
p.Tyr1873IlefsX20	c.5613delC	45	1871	cb EGF-like #27	Ca2+ binding	Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 702 AUS02WES F0016 I01 NA Heterozygous AUSTRALIA NA 114
p.Ile1892MetfsX37	c.5675_5678delTAAA	46	1892	cb EGF-like #28	Ca2+ binding	Small rearrangement	Fr.	Stop at 1928	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3309 NET05GRO F0061 I0001 NA Heterozygous NETHERLAND NA 272
p.Cys1895LeufsX35	c.5684delG	46	1895	cb EGF-like #28	Disulfide bonds 1895-1905 (C1)	Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 725 BEL01GHE F0112 I01 NA Heterozygous BELGIUM NA 122
p.Glu1896LysfsX34	c.5686delG	46	1896	cb EGF-like #28		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1345 FRA01BOU F0391 I0429 Male Heterozygous FRANCE NA 145
p.Asp1898ValfsX32	c.5693delA	46	1898	cb EGF-like #28		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 857 UKD05LON F0065 I01 NA Heterozygous U.K. NA 96
p.Asn1907ThrfsX23	c.5718delG	46	1906	cb EGF-like #28	Ca2+ binding	Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 858 UKD05LON F0066 I01 NA Heterozygous U.K. NA 96
p.Val1931del	c.5791_5793delGTT	47	1931	cb EGF-like #29	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 467 GER01BER F0046 I52 Female Heterozygous GERMANY NA 95
p.Glu1933AsnfsX47	c.5797delG	47	1933	cb EGF-like #29	Ca2+ binding	Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 671 FRA01BOU F0233 I0272 Male Heterozygous FRANCE NA 145
p.Asn1940IlefsX40	c.5817delG	47	1939	cb EGF-like #29		Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1972 GER03HAN F0084 I0024 NA Heterozygous GERMANY NA 182
p.Asp1967MetfsX13	c.5898delA	47	1966	cb EGF-like #29		Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 138 BEL01GHE F0002 I01 Male Heterozygous BELGIUM NA 89
p.Leu1979X	c.5934delT	48	1978	cb EGF-like #30		Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2438 FRA01BOU F0695 I0732 NA Heterozygous FRANCE NA 207
p.Gly1987ValfsX70	c.5958_5964del	48	1986	cb EGF-like #30		Small rearrangement	Fr.	Stop at 2056	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 860 UKD05LON F0068 I01 NA Heterozygous U.K. NA 96
p.Arg1997SerfsX62	c.5991delA	48	1997	cb EGF-like #30	Ca2+ binding	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 861 UKD05LON F0069 I01 NA Heterozygous U.K. NA 96
p.Tyr2004ThrfsX55	c.6009delA	48	2003	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 353 FRA01BOU F0116 I0154 Female Heterozygous FRANCE NA 64
p.Gln2007LysfsX52	c.6018delT	48	2006	cb EGF-like #30		Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 206 GER03HAN F0002 I01 Female Heterozygous GERMANY NA 66
p.Val2018ArgfsX13	c.6052_6053delGT	49	2018	cb EGF-like #31		Small rearrangement	Fr.	Stop at 2030	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 950 ITA02PAV F0064 I01 NA Heterozygous ITALIA NA 125
p.Cys2040SerfsX26	c.6118_6119delTG	49	2040	cb EGF-like #31	Disulfide bonds 2040-2053 (C5)	Small rearrangement	Fr.	Stop at 2065	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2310 FRA01BOU F0566 I0603 Female Heterozygous FRANCE NA 207
p.Arg2051GlufsX8	c.6151delA	49	2051	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 994 GER01BER F0056 I0001 NA Heterozygous GERMANY NA 129
p.Asp2055IlefsX4	c.6163delG	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 591 USA03STA F0079 I733 NA Heterozygous U.S.A Type II 104
p.Tyr2062X	c.6186delT	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2062	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2026 TAI01TAI F0046 I0001 NA Heterozygous TAIWAN NA 183
p.Lys2064AsnfsX24	c.6192delG	50	2064	TGFBP#06	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 951 ITA02PAV F0065 I01 NA Heterozygous ITALIA NA 125
p.Lys2069AsnfsX19	c.6207delG	50	2069	TGFBP#06	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1596 FRA01BOU F0327 I0365 Female Heterozygous FRANCE NA 145
p.Lys2074ThrfsX13	c.6221_6224delAATC	50	2074	TGFBP#06	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2086	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1645 FRA01BOU F0438 I0475 Male Heterozygous FRANCE NA 145
p.Ser2075_Asn2077del	c.6223_6231del	50	2075	TGFBP#06	C-Term MMPs site	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 862 UKD05LON F0070 I01 NA Heterozygous U.K. NA 96
p.Cys2084del	c.6250_6252delTGC	50	2084	TGFBP#06	C in disulfide bonds 2084-2099	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2540 FRA01BOU F0797 I0834 Female Heterozygous FRANCE NA 207
p.Gly2093GlufsX67	c.6278delG	50	2093	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2159	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 863 UKD05LON F0071 I01 NA Heterozygous U.K. NA 96
p.Tyr2113MetfsX47	c.6337delT	51	2113	TGFBP#06		Small rearrangement	Fr.	Stop at 2159	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1630 FRA01BOU F0417 I0455 Female Heterozygous FRANCE NA 145
p.Ser2115_Gly2116del	c.6341_6346del	51	2114	TGFBP#06	conserved AA in TGFBP	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3293 NET05GRO F0045 I0001 NA Heterozygous NETHERLAND NA 272
p.Lys2138AsnfsX22	c.6414delA	52	2138	cb EGF-like #32		Small rearrangement	Fr.	Stop at 2159	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2890 BEL01GHE F0199 I0001 NA Heterozygous BELGIUM NA 225
p.His2139MetfsX21	c.6415delC	52	2139	cb EGF-like #32		Small rearrangement	Fr.	Stop at 2159	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1036 BEL01GHE F0162 I01 NA Heterozygous BELGIUM NA 122
p.Gln2141HisfsX19	c.6423delG	52	2141	cb EGF-like #32		Small rearrangement	Fr.	Stop at 2159	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 592 USA03STA F0081 I939 NA Heterozygous U.S.A Type II 104
p.Val2172LeufsX13	c.6513delT	53	2171	cb EGF-like #33		Small rearrangement	Fr.	Stop at 2184	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 256 USA03STA F0043 I01 NA Heterozygous U.S.A NA 54
p.Pro2175LeufsX10	c.6524delC	53	2175	cb EGF-like #33		Small rearrangement	Fr.	Stop at 2184	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1045 BEL01GHE F0171 I01 NA Heterozygous FRANCE NA 122
p.Asn2183MetfsX2	c.6548delA	53	2183	cb EGF-like #33	Ca2+ binding	Small rearrangement	Fr.	Stop at 2184	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3310 NET05GRO F0062 I0001 NA Heterozygous NETHERLAND NA 272
p.Asn2183ArgfsX3	c.6548_6558del	53	2183	cb EGF-like #33	Ca2+ binding	Small rearrangement	Fr.	Stop at 2185	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 867 UKD05LON F0075 I01 NA Heterozygous U.K. NA 96
p.Cys2204X	c.6609_6610delAT	53	2203	cb EGF-like #33		Small rearrangement	Fr.	Stop at 2204	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2468 FRA01BOU F0725 I0762 Female Heterozygous FRANCE NA 207
p.Asn2213ThrfsX7	c.6638_6647del	54	2213	cb EGF-like #34		Small rearrangement	Fr.	Stop at 2219	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1591 FRA01BOU F0298 I0337 Female Heterozygous FRANCE NA 145
p.Leu2216CysfsX12	c.6646_6650delCTCTG	54	2216	cb EGF-like #34	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2227	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 953 ITA02PAV F0067 I01 NA Heterozygous ITALIA NA 125
p.Val2222GlyfsX69	c.6665delT	54	2222	cb EGF-like #34	Ca2+ binding	Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3062 JAP02TOK F0039 I0001 NA Heterozygous JAPAN NA 229
p.Asn2223ThrfsX68	c.6666delG	54	2222	cb EGF-like #34	Ca2+ binding	Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1450 FRA01BOU F0422 I0459 Male Heterozygous FRANCE NA 145
p.Gly2235IlefsX8	c.6703_6704delGG	54	2235	cb EGF-like #34	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2242	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3063 JAP02TOK F0040 I0001 NA Heterozygous JAPAN NA 229
p.Asp2241ThrfsX50	c.6721delG	54	2241	cb EGF-like #34		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 871 UKD05LON F0079 I01 NA Heterozygous U.K. NA 96
p.Arg2242ValfsX49	c.6724delC	54	2242	cb EGF-like #34		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 872 UKD05LON F0080 I01 NA Heterozygous U.K. NA 96
p.Glu2264AsnfsX27	c.6790delG	55	2264	cb EGF-like #35		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 816 BEL01GHE F0160 I01 NA Heterozygous BELGIUM NA 122
p.Tyr2280IlefsX11	c.6837delG	55	2279	cb EGF-like #35	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3064 JAP02TOK F0041 I0001 NA Heterozygous JAPAN NA 229
p.Cys2316LeufsX82	c.6947delG	56	2316	cb EGF-like#36	Disulfide bonds 2302-2316 (C4)	Small rearrangement	Fr.	Stop at 2397	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3244 AUS01VIE F0010 I0001 Male Heterozygous AUSTRIA NA 271
p.Asp2333ThrfsX65	c.6996delT	56	2332	cb EGF-like#36		Small rearrangement	Fr.	Stop at 2397	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 522 SWI01ZUR F0003 I01 NA Heterozygous SWITZERLAND NA 98
p.Thr2341ArgfsX25	c.7022_7023delCA	57	2341	TGFBP #07		Small rearrangement	Fr.	Stop at 2365	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3324 BEL01GHE F0259 I0001 Male Heterozygous POLAND NA 273
p.Met2347ValfsX19	c.7039_7040delAT	57	2347	TGFBP #07		Small rearrangement	Fr.	Stop at 2365	16
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 539 USA04NOR F0006 I5213 NA Heterozygous U.S.A NA 101 806 BEL01GHE F0150 I01 NA Heterozygous BELGIUM NA 122 807 BEL01GHE F0151 I01 NA Heterozygous BELGIUM NA 122 1416 UKD05LON F0179 I01 NA Heterozygous U.K. NA 96 1549 ITA01FLO F0077 I01 NA Heterozygous ITALIA NA 146 1801 UKD07WIL F0085 I0001 NA Heterozygous U.K. NA 157 2078 SWI01ZUR F0042 I01 NA Heterozygous SWITZERLAND NA 188 2114 KOR01SEO F0035 I0001 NA Heterozygous S. KOREA NA 189 2115 KOR01SEO F0036 I0001 NA Heterozygous S. KOREA NA 189 2263 FRA01BOU F0518 I0555 Male Heterozygous FRANCE NA 207 2284 FRA01BOU F0541 I0578 Female Heterozygous FRANCE NA 207 2289 FRA01BOU F0545 I0582 Male Heterozygous FRANCE NA 207 2290 FRA01BOU F0546 I0583 Female Heterozygous FRANCE NA 207 2553 FRA01BOU F0812 I0848 Female Heterozygous FRANCE NA 207 2747 FRA01BOU F1015 I1051 Female Heterozygous FRANCE NA 207 2788 FRA01BOU F1056 I1092 Female Heterozygous FRANCE NA 207
p.Cys2348SerfsX18	c.7043_7044delGT	57	2348	TGFBP #07	C in disulfide bonds 2348-2375	Small rearrangement	Fr.	Stop at 2365	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 974 ITA02PAV F0082 I01 NA Heterozygous ITALIA NA 125
p.Val2358SerfsX40	c.7071delC	57	2357	TGFBP #07		Small rearrangement	Fr.	Stop at 2397	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1581 FRA01BOU F0240 I0279 Female Heterozygous FRANCE NA 145
p.Val2358_Lys2360del	c.7071_7079del	57	2357	TGFBP #07		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3065 JAP02TOK F0042 I0001 NA Heterozygous JAPAN NA 229
p.Asp2366ThrfsX32	c.7096delG	57	2366	TGFBP #07		Small rearrangement	Fr.	Stop at 2397	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1118 GER03HAN F0055 I01 NA Heterozygous GERMANY NA 133
p.Cys2390SerfsX15	c.7167_7168delCT	57	2389	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2404	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 704 AUS02WES F0018 I01 NA Heterozygous AUSTRALIA NA 114 875 UKD05LON F0083 I01 NA Heterozygous U.K. NA 96 992 GER01BER F0054 I0001 NA Heterozygous GERMANY NA 129 2602 FRA01BOU F0860 I0896 Female Heterozygous FRANCE NA 207
p.His2410ThrfsX28	c.7228delC	58	2410	cb EGF-like #37		Small rearrangement	Fr.	Stop at 2437	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2509 FRA01BOU F0764 I0801 Male Heterozygous FRANCE NA 207
p.Gly2423IlefsX7	c.7266_7267delAG	58	2422	cb EGF-like #37	Ca2+ binding	Small rearrangement	Fr.	Stop at 2429	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 981 FRA01BOU F0310 I0349 Female Heterozygous FRANCE NA 145
p.Thr2431LeufsX7	c.7291delA	58	2431	cb EGF-like #37		Small rearrangement	Fr.	Stop at 2437	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 207 GER03HAN F0001 I01 Female Heterozygous GERMANY NA 66
p.Tyr2433ThrfsX5	c.7296delG	58	2432	cb EGF-like #37	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2437	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 980 FRA01BOU F0315 I0354 Female Heterozygous FRANCE NA 145
p.Asp2436PhefsX47	c.7306_7319del	58	2436	cb EGF-like #37		Small rearrangement	Fr.	Stop at 2482	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 541 USA04NOR F0008 I1371 NA Heterozygous U.S.A NA 101
p.Cys2455IlefsX226	c.7361_7364delCCTG	59	2454	cb EGF-like #38		Small rearrangement	Fr.	Stop at 2680	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1028 FRA01BOU F0257 I0296 Female Heterozygous FRANCE NA 145
p.Thr2462ArgfsX25	c.7385_7386delCA	59	2462	cb EGF-like #38	Ca2+ binding	Small rearrangement	Fr.	Stop at 2486	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 879 UKD05LON F0087 I01 NA Heterozygous U.K. NA 96
p.Gly2473AlafsX209	c.7413delG	59	2471	cb EGF-like #38		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2661 FRA01BOU F0924 I0960 Male Heterozygous FRANCE NA 207
p.Cys2509AsnfsX165	c.7524_7548del	60	2508	cb EGF-like #39	Ca2+ binding	Small rearrangement	Fr.	Stop at 2673	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1119 GER03HAN F0056 I01 NA Heterozygous GERMANY NA 133
p.Asn2526MetfsX156	c.7577delA	61	2526	cb EGF-like #40	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 435 BEL01GHE F0062 I1120 Female Heterozygous BELGIUM NA 89
p.Ser2547ThrfsX135	c.7640delG	61	2547	cb EGF-like #40	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 706 AUS02WES F0020 I01 NA Heterozygous AUSTRALIA NA 114
p.Phe2556LeufsX2	c.7667_7692del	61	2556	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2557	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 FRA01BOU F0267 I0306 Male Heterozygous FRANCE NA 145
p.Ile2584MetfsX96	c.7752_7758del	62	2584	cb EGF-like #41	Ca2+ binding	Small rearrangement	Fr.	Stop at 2679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1476 FRA01BOU F0426 I0463 Female Heterozygous FRANCE NA 145
p.Ile2585_Ser2591del	c.7753_7773del	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2197 FRA01BOU F0453 I0490 Female Heterozygous FRANCE NA 207
p.Gln2594ProfsX10	c.7777_7787del	62	2593	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2603	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3311 NET05GRO F0063 I0001 NA Heterozygous NETHERLAND NA 272
p.Gln2594ArgfsX88	c.7780delC	62	2594	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2681	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 809 BEL01GHE F0153 I01 NA Heterozygous BELGIUM NA 122 1017 FRA01BOU F0276 I0315 Male Heterozygous FRANCE NA 145
p.Gln2598SerfsX84	c.7792delC	62	2598	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 885 UKD05LON F0093 I01 NA Heterozygous U.K. NA 96
p.Cys2605LeufsX77	c.7814delG	62	2605	cb EGF-like #41	Disulfide bonds 2592-2605 (C6)	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2527 FRA01BOU F0783 I0820 Male Heterozygous FRANCE NA 207
p.Val2606X	c.7816_7817delGT	62	2606	cb EGF-like #41	Ca2+ binding	Small rearrangement	Fr.	Stop at 2606	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1704 NOR01OSL F0034 I0001 NA Heterozygous NORWAY NA 148
p.Lys2630AlafsX51	c.7887_7890delCAAG	63	2629	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2680	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1981 GER03HAN F0093 I0035 NA Heterozygous GERMANY NA 182 3120 GER03HAN F0098 I0001 Male Heterozygous GERMANY NA 243 3123 GER03HAN F0101 I0001 Female Heterozygous GERMANY NA 243 3133 GER03HAN F0111 I0001 Female Heterozygous GERMANY NA 243
p.Ala2635ProfsX47	c.7899delT	63	2633	cb EGF-like #42	Disulfide bonds 2633-2646 (C5)	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 969 ITA02PAV F0007 I01 NA Heterozygous ITALIA NA 125
p.Phe2642LeufsX40	c.7926delC	63	2642	cb EGF-like #42		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 369 UKD05LON F0006 I26 Female Heterozygous U.K. NA 83
p.Gly2644AlafsX36	c.7931_7937del	63	2644	cb EGF-like #42		Small rearrangement	Fr.	Stop at 2679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 811 BEL01GHE F0155 I01 NA Heterozygous BELGIUM NA 122
p.Gln2647LysfsX35	c.7939delC	63	2647	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3312 NET05GRO F0064 I0001 NA Heterozygous NETHERLAND NA 272
p.Gln2656AlafsX22	c.7965_7977del	63	2655	cb EGF-like #43		Small rearrangement	Fr.	Stop at 2677	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 594 USA03STA F0083 I420 NA Heterozygous U.S.A NA 104
p.Cys2659AlafsX23	c.7975delT	63	2659	cb EGF-like #43	Disulfide bonds 2659-2672 (C2)	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1945 CHI01HKO F0023 I0001 NA Heterozygous CHINA NA 181
p.Pro2676LeufsX6	c.8027delC	63	2676	cb EGF-like #43		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1783 UKD07WIL F0067 I0001 NA Heterozygous U.K. NA 157
p.Pro2699HisfsX53	c.8096delC	64	2699	COOH unique region		Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1559 ITA01FLO F0085 I01 NA Heterozygous ITALIA NA 146
p.Gly2703ValfsX49	c.8108delG	64	2703	COOH unique region		Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2117 KOR01SEO F0038 I0001 NA Heterozygous S. KOREA NA 189
p.Glu2717GlyfsX35	c.8150delA	64	2717	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1430 UKD05LON F0193 I01 NA Heterozygous U.K. NA 96
p.Cys2718LeufsX34	c.8153delG	64	2718	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1151 UKD05LON F0114 I01 NA Heterozygous U.K. NA 96
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.Lys2719ThrfsX12	c.8155_8174del	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2730	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2859 AUS02WES F0065 I0001 Male Heterozygous IRELAND NA 221
p.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.Glu2746AspfsX13	c.8238_8239delGA	65	2746	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2758	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 50 USA01BAL F0028 I01 Female Heterozygous U.S.A NA 21
p.Asn2799MetfsX47	c.8396delA	65	2799	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2845	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 742 BEL01GHE F0128 I01 NA Heterozygous BELGIUM NA 122
p.Ile2831SerfsX15	c.8491delA	65	2831	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2845	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 622 FRA01BOU F0158 I0197 Male Heterozygous FRANCE NA 64
p.Ser2832ValfsX14	c.8493delC	65	2831	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2845	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 222 USA08PIT F0017 I01 NA Heterozygous U.S.A NA 49
p.Leu2842ProfsX7	c.8525_8529delTTAAC	65	2842	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2848	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 328 GER01BER F0020 I32 Male Heterozygous GERMANY NA 82 1122 GER03HAN F0059 I01 NA Heterozygous GERMANY NA 133 2036 TAI01TAI F0056 I0001 NA Heterozygous TAIWAN NA 183 2087 SWI01ZUR F0051 I01 NA Heterozygous SWITZERLAND NA 188 2482 FRA01BOU F0739 I0776 Male Heterozygous FRANCE NA 207 3313 NET05GRO F0065 I0001 NA Heterozygous NETHERLAND NA 272
p.Gln2844ArgfsX5	c.8531_8535delAACTA	65	2844	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2848	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1123 GER03HAN F0060 I01 NA Heterozygous GERMANY NA 133