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

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

	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 variants^a	1	0	0	0
Number of compound heterozygous variants^a	0	2	2	2

^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

ISSN: 1471-2350