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Pathogenicity classification referred to ACMG guideline.
| Proband | Variants | Evidence | Category | |
|---|---|---|---|---|
| Strong | Supporting | |||
| Case 1 | c.5417C>T, p.Pro1806Leu | PS2 | PM2_supporting, PP3 | Likely pathogenic |
| Case 2 | c.186G>A, p.Ala62= | PS2 | PM2_supporting, PP3 | Likely pathogenic |
