Table 3.

Population frequency of SLC25A19 variants

Patients	Gene	Transcript	Variants		Zygosity	Carrier	gnomAD East Asian	1000 genomes	dbSNP
1	SLC25A19	NM_00112 6122	c.169G>C	p.Ala57Thr	Heterozygous	Father	5.789e−05	–	rs766616256
			c.383C>T	p.Ala128Val	Heterozygous	Mother	–	–	–
2 and 3			c.76G>A	p.Gly26Arg	Heterozygous	Father	0.0005	0.001	rs181826033
			c.745T>A	p.Phe249Ile	Heterozygous	Mother	–	–	–