Table 1.
Whole-exome sequencing results identifying potential pathogenic mutations associated with PHA incidence.
| SNP | Gene | POS | REF | ALT | Case | Mother | Father |
|---|---|---|---|---|---|---|---|
| rs201123211 | ARHGAP4 | Xq28 | C | T | 1/1 | 0/1 | 0/0 |
| rs142417700 | CFAP47 | Xp21.1 | G | A | 1/1 | 0/1 | 0/0 |
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