Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004453.4:c.807A>C | ||||
| NM_004453.3:c.1414G>A |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231680.G.1 | United Arab Emirates | Unknown | Group of 4 unrelated patients |