TABLE 3.

The variant characterization of identified variants such as computational analysis and variant frequency in population databases.

Patients	Patient 1 (proband IV-2)	Patient 2 (proband IV-1)	Patient 3 (proband V-3)
Variant definition -Gene name -Varian name -Protein change -Chromosome position (GRCh37) - Zygosity	PYGL (NM_002863) c.298_307del p. M100Sfs*18 Chr14:51404492-51404501 Homozygote	SLC2A2 (NM_000340.2) c.613-1G > C Chr3: 170723895 Homozygote	SLC2A2 (NM_000340.2) c.1043dupT p.N349Kfs*44 Chr3:170720390-170720391 Homozygote
In silico predictive tools -CADD (Phred Score) -DANN -GERP -MutationTaster -HSF	33 (Deleterious) – 5.7 Disease-causing –	27.4 (Deleterious) 0.9933 (Deleterious) 5.51 Disease causing Propably affecting splicing	29 – 5.15 Disease-causing –
Population Databases -1000 GP -ExACb -GenomAD -ESP	– – – –	– – – –	– – – –
Related phenotypes (OMIM number)	HERS disease/GDSVI (OMIM: 232700)	Fanconi-Bickel syndrome/GSDXI (OMIM: 232700)	Fanconi-Bickel syndrome/GSDXI (OMIM: 232700)
Variant classification (based ACMG guideline)	Pathogenic (PVS1, PM2, PP3, PP4)	Pathogenic (PVS1, PM2, PP3, PP4)	Pathogenic (PVS1, PM2, PP3, PP4)