Table 1.

Variant table

Gene	Chromosome	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect (substitution, deletion, etc.)	dbSNP/dbVar ID	Genotype (heterozygous/homozygous)
MANBA	4q24	g.103590853_103590921ins103585729_103598877inv (hg19)	Not available	Inverted duplication	Exon skipping (8–9 or 8–10)	-	Homozygous