The UMD-FBN1 mutations database
Large duplications (3 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Asp1487PhefsX2	c.4459insTTTTAG	35-36	1487	cb EGF-like #22	Ca2+ binding	Large rearrangement	Fr.	Stop at 1488	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1904 ITA01FLO F0088 I0001 Female Heterozygous ITALIA NA 175
p.His2685TyrfsX3	c.6617_8051dup	63-64	2684	cb EGF-like #43		Large rearrangement		Stop at 2687	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2200 FRA01BOU F0456 I0493 Male Heterozygous FRANCE NA 207
p.His2685X	c.7820_8051dup	63-64	2684	cb EGF-like #43		Large rearrangement		Stop at 2685	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2363 FRA01BOU F0620 I0657 Female Heterozygous FRANCE NA 207