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Table 3 Summary of exome sequencing data of the patients from each family

From: Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

  Patient I Patient II Patient III Patient IV
Mean coverage depth of target regions (X) 60× 64× 47× 76×
% of captured regions with coverage >10 97% 96% 96% 94%
Total number of coding SNPs 19,887 19,543 19,599 22,514
Total number of coding INDELs 472 472 469 619
Number of homozygous variantsa 1 0 0 0
Number of compound heterozygous variantsa 0 2 2 2
  1. aOnly variants with population allele frequency < 1%, and located in PAH, PTS, GCH1, QDPR, PCBD1, SRP and GCHFR were counted. Variants that are presented in >1% of the in-house Thai exome database were not included