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Table 2 The bioinformatics analysis of exonic and splicing variants detected in 142 patients with AZ

From: Is BRD7 associated with spermatogenesis impairment and male infertility in humans? A case-control study in a Han Chinese population

Rs Varianta Consequence In silico predictive algorithm MAF in the databases
    SIFT PolyPhen-2 Mutation Taster MaxEntScan Human Splicing Finder 1000 Genomes_EAS gnomAD_EAS
rs1062348 c.846C > T Synonymous / / / / / 0.497 0.499
rs116422109 c.537 T > C Synonymous / / / NSI SSC 0.005 0.005
rs202057136 c.592-9A > G Splicing / / / SSC (−0.12) NSI 0.001 0.002
rs115302634 c.1796A > G Missense Tolerated
(0.127)
Probably damaging (0.994) Disease causing(0.99) / / 0.003 0.004
rs201820448 c.1458 T > C Synonymous / / / NSI NSI 0.004 0.004
rs188183810 c.1077C > T Synonymous / / / SSC (−0.04) SSC 0.005 NA
  1. The exons and their splice sites of bromodomain containing 7(BRD7) were amplified by PCR and products were detected using Sanger sequencing
  2. AZ azoospermia, MAF Minor allele frequency, gnomAD Genome Aggregation Database, EAS East Asia, NSI No significant impact, SSC Splice site changes. aThe variants were identified in the heterozygous state in patients with AZ