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Table 1 Whole exome sequence filtering

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

SNVsa 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
  1. a SNVs single nucleotide variants
  2. bdbSNP132: http://www.ncbi.nlm.nih.gov/SNP/
  3. 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