Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001298.3:c.847C>T | 1 | |||
| NM_001298.3:c.1190G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216900.4 | United Arab Emirates | Achromatopsia | Male |