A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Table 1 Whole exome sequence filtering

SNVs^a	Variations	Genes
All variants	9061	6301
Unknown or known variants <1 % (dbSNP132/1 K genome/EVS ExAC) and in-house database filtering (929)^b	785	861
Glycosylation genes Dolichol related genes	19 3	19 3
Gene(s) with two mutated alleles	2	2

^a SNVs single nucleotide variants
^bdbSNP132: http://www.ncbi.nlm.nih.gov/SNP/
1 K genome; 1000 genomes (http://www.1000genomes.org/), EVS; Exome Variant Server (http://evs.gs.washington.edu/EVS/), ExAC; http://exac.broadinstitute.org/, in-house database filtering; variant excluded if already seen at the homozygous state in 929 exomes performed in the platform

ISSN: 1750-1172