Table 2.

Whole exome sequence results.

Disease	Inheritance	Gene	Nucleotide	Amino acid	Zygosity	Novel
Class: Damaging
Lysinuric protein intolerance [MIM:222700]	AR	SLC7A7	c.1122C>A	p.C374X	Hom	Yes
Class: VUS
Lysyl hydroxylase 3 deficiency [MIM:612394]	AR	PLOD3	c.1030G>A	p.A344T	Het	No
Wolcott-Rallison syndrome [MIM:226980]	AR	EIF2AK3	c.2286G>T	p.Q762H	Het	Yes

AR—autosomal recessive; Het—heterozygous; Hom—homozygous; VUS—variant of unknown clinical significance.