Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001085427.2:c.576G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 250100.11.2 | Palestine | Unaffected | Female | Mother of 250100.11.1 | ||
| 250100.11.3 | Palestine | Unaffected | Male | Father of 250100.11.1 |