Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000312.3:c.796+3A>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612304.3.1 | Saudi Arabia | Tachypnea; Neonatal Onset; Hematuria; Reduced protein C activity; | Male | Yes | ||
| 612304.3.3 | Saudi Arabia | Female | Mother of 612304.3.1 | |||
| 612304.3.4 | Saudi Arabia | Female | Sister of 612304.3.1 |