The UMD-FBN1 mutations database
Leu to His mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu16His	c.47T>A	1	16	Signal peptide		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1075 AUS02WES F0045 I01 NA Heterozygous AUSTRALIA NA 134