Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.2082G>A | 1 | 1.2% |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.1.2 | Jordan | Recurrent fever; Abdominal pain; Arthralgia | Yes | Yes | ||
| 249100.1.3 | Jordan | Recurrent fever; Abdominal pain; Arthralgia | Yes | Yes |