Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

Table 1

“R” software was used to identify the deleterious zinc transporter gene in B03. An EXAC frequency of <0.01 and CADD score of >10 were accepted. Excluding synonymous variants, at position Chr8:145638714 of the SLC39A4 gene, c.G1534T and p.G512W, portrayed as a rare mutation in comparison to other identified genes and genetic variants. Note. Please see Sup Materials 2 for complete list of zinc transporter genes derived by “R” software for B03.

Gene	Chromosome	Start-End	Exon	Nucleotide substitution	Protein substitution	EXAC Frequency	CADD Score
SLC39A4	Chr8	145638714	10	c.G1534T	p.G512W	1.178e-05	35