Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000821.7:c.548A>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277450.3.1 | United Arab Emirates | Abnormal bleeding; Epistaxis; Prolonged partial thromboplastin time; Reduced protein C activity; Reduced protein S activity | Female | No | Yes | |
| 277450.3.3 | United Arab Emirates | Female | Mother of 277450.3.1 |