Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000377.2:c.559+5G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 301000.1.1 | Saudi Arabia | Abnormal bleeding; Petechiae; Abnormal platelet count | Male | Yes | Sibling of 301000.1.2 | |
| 301000.1.2 | Saudi Arabia | Prolonged bleeding following circumcision; Petechiae; Bruising susceptibility; Eczema | Male | Yes | Sibling of 301000.1.1 |