Table 3.

WES report.

Gene	Variant coordinates	Zygosity	In silico parameters	Allele frequencies	Type and classification
G6PC	Chr17(GRCh37):g.41055964C > T NM_000151.3:c.247C > T p.(Arg83Cys) Exon 2	Homozygous	PolyPhen: probably damaging Align-GVGD: C0 SIFT: deleterious MutationTaster: disease causing Conservation: nt moderate/aa high	gnomAD: 0.00055 ESP: 0.00046 1000 G: CentoMD: 0.0012	Missense pathogenic (class 1)