Table 2.

Variant table

Gene (Transcript)	Chromosomal variant coordinate (build 37.1)	HGVS DNA reference	dbSNP ID	HGVS protein reference	Variant type	Genotype	Parent of origin	Classification
MOCS1 (ENST00000373186)	6:39,893,463	c.377G > A	rs372246702	p.Gly126Asp	Missense	Heterozygous	Unknown (nonmaternal)	Likely pathogenic
MOCS1 (ENST00000373186)	6:39,876,811	c.*7 + 5G > A	rs752653792	n.a.	Splicing abnormality	Heterozygous	Maternal	Likely pathogenic