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Egyptian Journal of Medical Human Genetics

Table 3 The quality control parameters of variant calling format (VCF) file of the patient

From: Novel pyrroline-5-carboxylate reductase 2 (PYCR2) mutation in an Iranian patient with hypomyelinating leukodystrophy: findings of molecular and in silico investigations

Unique variant alleles

178,343

SNPs (mismatches)

154,981

InDels

23,362

TS/TV ratio

2.19351

Deamination ratio

1.05873

Insertion alleles/deletion alleles

0.87722

Inserted bases/deleted bases

0.768349

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