Table 1 Variants identified at different filtering levels in individual no. 73387

From: A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Variants filtering

Synonymous variants

11 836

Nonsynonymous variants (NSVs)

12 576

NSVs absent from 3600 control exomes and public databases

313

Genes carrying ≥2 NSVs

38

Genes carrying ≥2 loss-of-function alleles

1 (PET100)

  1. NSVs indicate missense, nonsense, stop/loss, splice site disruption, insertions and deletions. The bold entry indicates the affected gene (PET100).
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