Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000521.3:c.1627G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.1 | Palestine | Unknown | Iraqi Jew | |||
| 272800.1.1 | Palestine | Male | Yes | Yes | ||
| 272800.1.2 | Palestine | Female | Yes | Yes | First degree cousin of 272800.1.1 | |
| 272800.1.4 | Palestine | Male | Yes | Father of 272800.1.1 | ||
| 272800.1.5 | Palestine | Female | Yes | Mother of 272800.1.1 |