The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Increased body length

    Request ID: 6-17

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 445 GER01BER F0021 I15 Male Heterozygous GERMANY NA 95
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 319 JAP05YON F0003 I0001 Male Heterozygous JAPAN NA 79 527 USA05HOU F0015 I01 Male Heterozygous U.S.A Type II 99
p.Cys160Gly	c.478T>G	5	160	EGF-like#03	Disulfide bonds 150-160 (C3)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 480 FRA01BOU F0106 I0144 Female Heterozygous FRANCE NA 64
p.Trp217Gly	c.649T>G	6	217	Hybrid module#01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 20 FIN01HEL F0006 I01 Male Heterozygous FINLAND Type II 10
p.Val449Ile	c.1345G>A	11	449	EGF-like #04	N-Term MMPs site	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 600 GER03HAN F0013 I03 Male Heterozygous GERMANY NA 107
p.Cys476Gly	c.1426T>G	11	476	EGF-like #04	Disulfide bonds 476-488 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 26 USA01BAL F0012 I01 NA Heterozygous U.S.A Type IV 11
p.Lys478X	c.1432A>T	11	478	EGF-like #04		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 623 FRA01BOU F0190 I0229 Female Heterozygous FRANCE NA 64
p.Cys499Tyr	c.1496G>A	12	499	cb EGF-like #03	Disulfide bonds 499-513 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2949 USA03STA F0090 I0001 Female Heterozygous U.S.A. NA 228
p.Cys534Arg	c.1600T>C	13	534	cb EGF-like #04	Disulfide bonds 534-546 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 646 FRA01BOU F0202 I0241 Male Heterozygous FRANCE NA 64
p.Cys587Tyr	c.1760G>A	14	587	cb EGF-like #05	Disulfide bonds 576-587 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 449 GER01BER F0026 I03 Female Heterozygous GERMANY NA 95
	c.IVS15-1delG (c.1961-1delG)	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Tv	delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3234 AUS01VIE F0002 I0001 Female Heterozygous AUSTRIA NA 271
p.Ser681Tyr	c.2042C>A	16	681	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 454 GER01BER F0030 I31 Male Heterozygous GERMANY NA 95
p.Cys683Arg	c.2047T>C	16	683	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 455 GER01BER F0031 I59 Female Heterozygous GERMANY NA 95
p.Cys685Trp	c.2055C>G	16	685	TGFBP#02	C in disulfide bonds 685-711	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 452 GER01BER F0032 I09 Male Heterozygous GERMANY NA 95
p.Ala705Thr	c.2113G>A	16-17	705	TGFBP#02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 87 AUS01NAD F0001 I03 Male Heterozygous AUSTRALIA NA 36
p.Cys711Tyr	c.2132G>A	17	711	TGFBP#02	C in disulfide bonds 685-711	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 86 AUS01NAD F0002 I02 Male Heterozygous AUSTRALIA NA 36
p.Asp723Val	c.2168A>T	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 458 GER01BER F0034 I18 Female Heterozygous GERMANY NA 95
	c.IVS17-2A>G (c.2168-2A>G)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 475 GER01BER F0035 I02 Female Heterozygous GERMANY NA 95
p.Cys734Phe	c.2201G>T	18	734	cb EGF-like #07	Disulfide bonds 734-748 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 459 GER01BER F0036 I65 Male Heterozygous GERMANY NA 95
p.Cys748Tyr	c.2243G>A	18	748	cb EGF-like #07	Disulfide bonds 734-748 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 457 GER01BER F0037 I40 Female Heterozygous GERMANY NA 95
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.Cys776Gly	c.2326T>G	19	776	cb EGF-like #08	Disulfide bonds 776-790 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 461 GER01BER F0038 I37 Male Heterozygous GERMANY NA 95
p.Cys781Arg	c.2341T>C	19	781	cb EGF-like #08	Disulfide bonds 769-781 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 460 GER01BER F0039 I51 Male Heterozygous GERMANY NA 95
p.Cys790Ser	c.2368T>A	19	790	cb EGF-like #08	Disulfide bonds 776-790 (C4)	Small rearrangement	Tv	T->A	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3067 NET04NIJ F0004 I0001 Male Heterozygous PAKISTAN NA 240 3068 NET04NIJ F0004 I0002 Male Heterozygous PAKISTAN NA 240 3069 NET04NIJ F0004 I0003 Male Heterozygous PAKISTAN NA 240 3070 NET04NIJ F0004 I0004 Male Heterozygous PAKISTAN NA 240 3071 NET04NIJ F0004 I0005 Male Heterozygous PAKISTAN NA 240 3072 NET04NIJ F0004 I0006 Female Heterozygous PAKISTAN NA 240 3073 NET04NIJ F0004 I0007 Female Heterozygous PAKISTAN NA 240 3074 NET04NIJ F0004 I0008 Female Heterozygous PAKISTAN NA 240 3075 NET04NIJ F0004 I0009 Male Heterozygous PAKISTAN NA 240 3076 NET04NIJ F0004 I0010 Male Heterozygous PAKISTAN NA 240 3077 NET04NIJ F0004 I0011 Male Heterozygous PAKISTAN NA 240
p.Cys845Phe	c.2534G>T	20	845	cb EGF-like #09	Disulfide bonds 832-845 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3235 AUS01VIE F0003 I0001 Female Heterozygous AUSTRIA NA 271
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.Cys862Arg	c.2584T>C	21	862	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 27 USA03STA F0001 I827 Male Heterozygous U.S.A Type IV 12
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 601 GER03HAN F0010 I06 NA Heterozygous GERMANY NA 107
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.Cys921Gly	c.2761T>G	23	921	cb EGF-like #10	Disulfide bonds 921-935 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 464 GER01BER F0042 I62 Male Heterozygous GERMANY NA 95
	c.IVS23+1G>A (c.2854+1G>A)	23-24	952	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3238 AUS01VIE F0005 I0001 Female Heterozygous AUSTRIA NA 271
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.Gly985Glu	c.2954G>A	24	985	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 160 FRA01BOU F0115 I0153 Male Heterozygous FRANCE NA 62
p.Glu994X	c.2980G>T	24	994	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 168 FIN01HEL F0018 I02 Male Heterozygous FINLAND NA 48
p.Cys1008Arg	c.3022T>C	24	1008	TGFBP#03	C in disulfide bonds 982-1008	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1660 CHI03JIN F0001 I0001 Female Heterozygous CHINA NA 152
p.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 331 GER01BER F0003 I15 Female Heterozygous GERMANY NA 80 341 GER01BER F0004 I60 Female Heterozygous GERMANY NA 80 426 CHI01HKO F0001 I0001 Male Heterozygous CHINA NA 94
p.Thr1020Ala	c.3058A>G	24	1020			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 335 GER01BER F0005 I47 Female Heterozygous GERMANY NA 80
p.Lys1023Asn	c.3069G>C	24	1023			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18 FIN01HEL F0004 I01 Male Heterozygous FINLAND NA 10
	c.IVS24+1G>T (c.3082+1G>T)	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 340 GER01BER F0006 I54 Male Heterozygous GERMANY NA 80
p.Cys1032Tyr	c.3095G>A	25	1032	cb EGF-like #11	Disulfide bonds 1032-1044 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 718 UKD05LON F0024 I01 Male Heterozygous U.K. NA 118
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.Lys1043Arg	c.3128A>G	25	1043	cb EGF-like #11		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 81 USA02OMA F0004 I324 Male Heterozygous U.S.A NA 35
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 291 NET02UTR F0001 I01 Female Heterozygous NETHERLAND NA 65
p.Cys1055Trp	c.3165T>G	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 399 BEL01GHE F0034 I2115 Male Heterozygous BELGIUM NA 115
p.Asp1070Gly	c.3209A>G	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 355 FRA01BOU F0189 I0228 Male Heterozygous FRANCE NA 64
p.Glu1073Lys	c.3217G>A	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 68 USA05HOU F0011 I249 Male Heterozygous U.S.A NA 26
p.Cys1081Gly	c.3241T>G	26	1081	cb EGF-like #12	Disulfide bonds 1081-1095 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 163 FRA01BOU F0113 I0151 Male 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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 602 GER03HAN F0014 I07 Male Heterozygous GERMANY NA 107 1274 AUS02WES F0063 I01 Male Heterozygous AUSTRALIA NA 142
p.Cys1117Arg	c.3349T>C	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 65 USA05HOU F0012 I250 Male Heterozygous U.S.A NA 26
p.Arg1125X	c.3373C>T	27	1125	cb EGF-like #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 547 USA04NOR F0014 I3599 Male Heterozygous U.S.A NA 102
p.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1 USA01BAL F0001 I01 NA Heterozygous U.S.A Type IV 1
p.Cys1153Tyr	c.3458G>A	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 88 AUS01NAD F0004 I04 Male Heterozygous AUSTRALIA NA 36
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.Tyr1186Cys	c.3557A>G	28	1186	cb EGF-like #14	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 177 FRA01BOU F0105 I0143 Male Heterozygous FRANCE NA 64
p.Ser1235Pro	c.3703T>C	29	1235	cb EGF-like #15		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2937 CHI08BEI F0003 I0001 Female Heterozygous CHINA NA 226
p.Asp1238Gly	c.3713A>G	29-30	1238	cb EGF-like #16	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 334 GER01BER F0008 I35 Female Heterozygous GERMANY NA 80
p.Cys1254Arg	c.3760T>C	30	1254	cb EGF-like #16	Disulfide bonds 1242-1254 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3239 AUS01VIE F0006 I0001 Female Heterozygous AUSTRIA NA 271
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
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 752 CAN01TOR F0003 I01 Male Heterozygous CANADA NA 123
p.Lys1300Glu	c.3898A>G	31	1300	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 336 GER01BER F0009 I01 Male Heterozygous GERMANY NA 80
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
	c.IVS31-2A>G (c.3965-2A>G)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 493 FRA01BOU F0185 I0224 Male Heterozygous U.S.A. NA 137
p.Glu1325X	c.3973G>T	32	1325	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 330 GER01BER F0010 I07 Female Heterozygous GERMANY NA 80
p.Leu1364_Asp1404del	c.4088_4210del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 33	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1880 UKD08SOU F0002 I0001 Female Heterozygous U.K. NA 168
p.Leu1364_Asp1606del	c.4088_4816del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 38	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3248 AUS01VIE F0014 I0001 Female Heterozygous AUSTRIA NA 271
	c.IVS33+2T>C (c.4210+2T>C)	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 551 USA04NOR F0015 I3477 Male Heterozygous U.S.A NA 102
p.Asp1406Gly	c.4217A>G	34	1406	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 339 GER01BER F0011 I36 Female Heterozygous GERMANY NA 80
p.Cys1513Arg	c.4537T>C	36	1513	cb EGF-like #22	Disulfide bonds 1513-1526 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 22 FIN01HEL F0008 I01 Female Heterozygous FINLAND NA 10
	c.IVS37+5G>T (c.4747+5G>T)	37-38	1583	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 299 CAN01TOR F0001 I19 Male Heterozygous CANADA NA 59
	c.IVS38-1G>A (c.4817-1G>A)	38-39	1606	cb EGF-like #23	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 610 GER03HAN F0022 I01 Female Heterozygous GERMANY NA 107
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.Cys1652Tyr	c.4955G>A	40	1652	cb EGF-like #24	Disulfide bonds 1652-1663 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 332 GER01BER F0014 I22 Male Heterozygous GERMANY NA 80
p.Cys1663Arg	c.4987T>C	40	1663	cb EGF-like #24	Disulfide bonds 1652-1663 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 666 FRA01BOU F0173 I0212 Male Heterozygous FRANCE NA 145
p.Cys1695Tyr	c.5084G>A	41	1695	TGFBP#05	C in disulfide bonds 1695-1719	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3207 USA05HOU F0026 I0001 Female Heterozygous U.S.A. NA 255
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 466 GER01BER F0043 I43 Male Heterozygous GERMANY NA 95
p.Gly1796Glu	c.5387G>A	43	1796	cb EGF-like #25	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 576 AUS01NAD F0026 I01 Male Heterozygous AUSTRALIA NA 103
p.Cys1806Ser	c.5417G>C	43	1806	cb EGF-like #25	Disulfide bonds 1793-1806 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 465 GER01BER F0044 I05 Male Heterozygous GERMANY NA 95
p.Ile1809_Asp1930del	c.5423_5788del	43-44	1808	cb EGF-like #26	Ca2+ binding	Large rearrangement Deletion from exon 44 to 46	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 558 USA03STA F0065 I890 Female Heterozygous U.S.A NA 91
	c.IVS43-1G>T (c.5423-1G>T)	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 476 GER01BER F0045 I19 Female Heterozygous GERMANY NA 95
p.Cys1895Arg	c.5683T>C	46	1895	cb EGF-like #28	Disulfide bonds 1895-1905 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 531 KOR01SEO F0004 I01 Male Heterozygous S. KOREA NA 100
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>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 552 USA04NOR F0019 I3459 Male Heterozygous U.S.A NA 102
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.Cys1998Tyr	c.5993G>A	48	1998	cb EGF-like #30	Disulfide bonds 1984-1998 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 468 GER01BER F0047 I16 Female Heterozygous GERMANY NA 95
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.Asp2127Glu	c.6381T>A	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 23 FIN01HEL F0009 I01 Male Heterozygous FINLAND NA 10
p.Asn2144Ser	c.6431A>G	52	2144	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1668 JAP07TOK F0001 I0001 Female Heterozygous JAPAN NA 151
p.Cys2151Trp	c.6453C>G	52	2151	cb EGF-like #32	Disulfide bonds 2137-2151 (C4)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 24 FIN01HEL F0010 I01 Male Heterozygous FINLAND NA 10
	c.IVS53+1G>C (c.6616+1G>C)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11 USA02OMA F0001 I01 Female Heterozygous U.S.A NA 6
p.Cys2232Tyr	c.6695G>A	54	2232	cb EGF-like #34	Disulfide bonds 2232-2245 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 174 ITA01FLO F0002 I02 Female Heterozygous ITALIA NA 50
p.Pro2233Arg	c.6698C>G	54	2233	cb EGF-like #34		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3242 AUS01VIE F0009 I0001 Female Heterozygous AUSTRIA NA 271 3243 AUS01VIE F0009 I0002 Male Heterozygous AUSTRIA NA 271
p.Ile2269Thr	c.6806T>C	55	2269	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 472 GER01BER F0051 I45 Female Heterozygous GERMANY NA 95
p.Cys2307Ser	c.6920G>C	56	2307	cb EGF-like#36	Disulfide bonds 2295-2307 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5 USA01BAL F0006 I01 Female Heterozygous U.S.A Type IV d 3
p.Arg2335Trp	c.7003C>T	57	2335	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 474 GER01BER F0052 I63 Female Heterozygous GERMANY NA 95
p.Cys2339Tyr	c.7016G>A	57	2339	TGFBP #07	C in disulfide bonds 2339-2363	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 473 GER01BER F0053 I21 Male Heterozygous GERMANY NA 95
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.Glu2447Lys	c.7339G>A	59	2447	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 31 FIN01HEL F0012 I01 Male Heterozygous FINLAND NA 13
p.Tyr2474Cys	c.7421A>G	59	2474	cb EGF-like #38	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 542 USA04NOR F0009 I1129 NA Heterozygous U.S.A NA 101
p.Leu2486_Asp2607del	c.7456_7821del	60	2486	cb EGF-like #39	Ca2+ binding	Large rearrangement Deletion from exon 60 to 63	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15 FIN01HEL F0001 I01 Male Heterozygous FINLAND NA 9
p.Cys2511Arg	c.7531T>C	60	2511	cb EGF-like #39	Disulfide bonds 2511-2522 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 126 FIN01HEL F0011 I01 Female Heterozygous FINLAND NA 10
p.Cys2535X	c.7605C>A	61	2535	cb EGF-like #40	Disulfide bonds 2535-2550 (C2)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 325 GER01BER F0017 I22 Male Heterozygous GERMANY NA 82
p.Arg2554Gln	c.7661G>A	61	2554	cb EGF-like #40		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 546 USA04NOR F0021 I3602 Male Heterozygous U.S.A NA 102
p.Cys2577Arg	c.7729T>C	62	2577	cb EGF-like #41	Disulfide bonds 2577-2590 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 173 ITA01FLO F0003 I01 Male Heterozygous ITALIA NA 50
p.Asn2624Ser	c.7871A>G	63	2624	cb EGF-like #42	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 326 GER01BER F0018 I73 Female Heterozygous GERMANY NA 82
p.Gly2627Arg	c.7879G>A	63	2627	cb EGF-like #42	Domain-domain packing	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 32 FIN01HEL F0013 I01 Female Heterozygous FINLAND Type III 14
p.Arg2680Cys	c.8038C>T	63	2680	cb EGF-like #43		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 327 GER01BER F0019 I46 Male Heterozygous GERMANY NA 82
	c.IVS63+373G>T (c.8051+373G>T)	63-64	2684	cb EGF-like #43		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1909 USA05HOU F0017 I01 Female Heterozygous U.S.A. NA 176
	c.IVS63-2A>G (c.8052-2A>G)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1900 USA05HOU F0016 I01 Female Heterozygous U.S.A. NA 120
p.Ser2709X	c.8126C>G	64	2709	COOH unique region		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3247 AUS01VIE F0013 I0001 Male Heterozygous AUSTRIA NA 271
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 123 USA05HOU F0002 I01 Male Heterozygous U.S.A Type I 16
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.Leu2842ProfsX7	c.8525_8529delTTAAC	65	2842	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2848	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 328 GER01BER F0020 I32 Male Heterozygous GERMANY NA 82
p.Tyr2849X	c.8547T>G	65	2849	FibuCTDIII-like motif		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2849 CHI08BEI F0002 I0002 Male Heterozygous CHINA NA 217