Table 1.
Bi-allelic WDR63 variants identified in infertility males.
| M1 | M2 | |
|---|---|---|
| cDNA alteration | c.163 C > T | c.1075 C > T |
| Variant allele | Homozygous | Homozygous |
| Protein alteration | p.Arg55* | p.Arg359* |
| Variant type | Nonsense | Nonsense |
| Allele frequency in human population | ||
| ExAC(all/Asian) | 3.3 × 10−05/0.8 × 10−04 | 1.3 × 10−04/0 |
| gnomAD (all/Asian) | 1.3 × 10−05/0.4 × 10−04 | 2.9 × 10−04/0 |
| Function prediction | ||
| SIFT | Damaging | Damaging |
| PolyPhen-2 | Damaging | Damaging |
| Mutation Taster | Damaging | Damaging |
| CADD | 37 | 35 |
NCBI reference sequence number of WDR63 is NP_660155.2.