The UMD-FBN1 mutations database
Mid-intronic mutations (20 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.IVS0-1589del2delA (c.1-1589del2delA)	1	1	Signal peptide		Small rearrangement		del2delA	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2594 FRA01BOU F0852 I0888 Male Heterozygous FRANCE NA 207
p.Met1?	c.IVS1+2113del1delG (c.164+2113del1delG)	1	1	Signal peptide		Small rearrangement		del1delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2588 FRA01BOU F0845 I0881 Male Heterozygous FRANCE NA 207
p.Met1?	c.IVS1+2854del2delT (c.164+2854del2delT)	1	1	Signal peptide		Small rearrangement		del2delT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2668 FRA01BOU F0931 I0967 Male Heterozygous FRANCE NA 207
	c.IVS6+62C>T (c.736+62C>T)	6-7	246	cb EGF-like #01	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1809 GER05DOR F0004 I0001 NA Heterozygous GERMANY NA 147
	c.IVS12+21G>A (c.1588+21G>A)	12-13	530	cb EGF-like #04	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 189 GER02MUN F0002 I01 NA Heterozygous GERMANY NA 53
	c.IVS16-11A>G (c.2114-11A>G)	16-17	705	TGFBP#02		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2789 FRA01BOU F1057 I1093 Male Heterozygous FRANCE NA 207
	c.IVS20+53T>A (c.2539+53T>A)	20-21	847	Hybrid motif #02		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 213 USA08PIT F0003 I01 NA Heterozygous U.S.A NA 49
	c.IVS28+15del3 (c.3589+15del3)	28-29	1197	cb EGF-like #15	Ca2+ binding	Small rearrangement	A->C	del3	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 216 USA08PIT F0009 I01 NA Heterozygous U.S.A NA 49
	c.IVS30+28C>A (c.3838+28C>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 217 USA08PIT F0011 I01 NA Heterozygous U.S.A NA 49
	c.IVS34-47insT (c.4337-47insT)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1751 UKD07WIL F0035 I0001 NA Heterozygous U.K. NA 157
	c.IVS35-32del20a (c.4460-32del20a)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Tv	del20a	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3343 CZE01PRA F0001 I0002 Female Heterozygous CZECH NA 280 3342 CZE01PRA F0001 I0001 Female Heterozygous CZECH NA 280
	c.IVS41-136del7 (c.5225-136del7)	41-42	1742	TGFBP#05		Small rearrangement	Tv	del7	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1821 GER05DOR F0016 I0001 NA Heterozygous GERMANY NA 147
	c.IVS43-30del3 (c.5423-30del3)	43-44	1808	cb EGF-like #26	Ca2+ binding	Small rearrangement	Tv	del3	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1353 FRA01BOU F0323 I0361 Male Heterozygous FRANCE NA 145
	c.IVS45-88A>G (c.5672-88A>G)	45-46	1891	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3308 NET05GRO F0060 I0001 NA Heterozygous NETHERLAND NA 272
	c.IVS50-15G>A (c.6314-15G>A)	50-51	2105	TGFBP#06		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2542 FRA01BOU F0800 I0837 Female Heterozygous FRANCE NA 207
	c.IVS51+115C>T (c.6379+115C>T)	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1822 GER05DOR F0018 I0001 NA Heterozygous GERMANY NA 147
	c.IVS55-23G>A (c.6872-23G>A)	55-56	2291	cb EGF-like#36	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2213 FRA01BOU F0470 I0507 Male Heterozygous FRANCE NA 207
	c.IVS56+17delC (c.6997+17delC)	56-57	2333	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Tv	delC	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 479 FRA01BOU F0110 I0148 Male Heterozygous FRANCE NA 64
	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