Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000053.3:c.2495A>G | 2 | |||
| NM_000053.3:c.3419T>C | 2 | |||
| NM_000053.3:c.2855G>A | 2 | |||
| NM_000053.3:c.2817G>T | 2 | |||
| NM_000053.3:c.3009G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277900.32.2 | Lebanon | Female | Yes | Sibling of 277900.31.1 | ||
| 277900.32.3 | Lebanon | Male | Yes | Sibling of 277900.31.1 | ||
| 277900.32.4 | Lebanon | Female | Yes | Mother of 277900.31.1 | ||
| 277900.32.5 | Lebanon | Female | Yes | Father of 277900.31.1 |