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Table 1 Whole exome sequencing analysis in the affected individual (III-1)

From: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Items

FC307 (III-1)

Total sequencing yields (Gbp)

6.5

% Mappable reads (/total reads)

94.0

% Coverage of target regions (more than 10X)

93.4

Mean read depth of target regions

88.5X

Total observed SNPs

57,356

Total observed Indels

9,592

Filtering

 

  Coding SNPs

19,700

  Coding Indels

526

  Functionally significant variantsa

9,136

  Functionally significant variants in CMT genes

30

  1. CMT, Charcot-Marie-Tooth disease; SNP, single nucleotide polymorphism.
  2. aNonsynonymous variants include splicing site, frameshift, stop gain, and stop loss.