| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080473.4:c.424T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 217095.1.2 | Lebanon | Female | Mother of 217095.1.1 | |||
| 217095.1.3 | Lebanon | Male | Father of 217095.1.1 |