Table 3.

Table of LoF variants present in public database identified as cause of CAA.

#a	Variant nameb	Intron/exon	dbSNP (#rs)	Nucleotide changec	Protein changed	Allele count/allele number
1	Baghdad	I-1	rs77408163	c.79+1G>A	Undefined splicing defect	2/246244e
2	Kayseri	E-3	rs75152012	c.228_229del	p.Val78Cysfs∗2	14/276934e; 8/125568f
3	Bethesda	E-4	rs77238412	c.412C>T	p.Arg138Ter	2/277026e
4	Guimarães	I-10	rs779988470	c.1289+1G>A	p.Phe398Alafs∗33	3/275346e; 2/125568f
5	Fondi	E-11	rs398089012	c.1427A>G	p.Tyr476Serfs∗13	1/229286e

^aVariants are ordered on the basis of their position in the albumin gene. ^bVariants have been named after the place, from where the first detected carrier originates. ^cbp and codon numbering are according to HGVS rules and are based on the cDNA sequence NM_000477.6. ^dThe protein changes in analbuminemia are deduced from mRNA (Guimarães and Fondi) or DNA (all the others) sequence and were not established at the protein level. Subtract 24 from amino acid numbers to convert to starting at the Asp1 of mature albumin. ^ePublic Dataset gnomAD (version 2.0.2). ^fPublic Dataset Bravo.