Table 1

Number and characteristics of identified variants through the WES analysis of a patient with NDM

IndexMotherFather
All identified variants (raw data)316,186284,847274,380
Variants fulfilling quality parameters64,95160,49656,722
Located in exonic regions16,41316,12015,621
Nonsynonymous variants7,4737,3327,101
Nonannotated variants (based on 1000 Genomes Project and dbSNP135) and MAF <0.051,2861,2981,412
Noninherited variants21
Predicted to be deleterious4
  • MAF, minor allele frequency.