Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000376.3:c.1056T>C | 56 | 0.41 | ||
| NM_000376.2:c.1024+283G>A | 77 | 0.56 | ||
| NM_000376.3:c.1025-49G>T | 48 | 0.35 | ||
| NM_000102.4:c.-34T>C | 64 | 0.46 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 176807.G.1.2 | Lebanon | Male | 69 Lebanese control subjects |