Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.442G>C | 6 | 7.1% |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.G.3.1 | Jordan | Recurrent fever; Abdominal pain; Arthralgia | Yes | Yes | Group of patients including 7 homozygotes and 3 heterozygotes | |
| 249100.G.3.2 | Jordan | Recurrent fever; Abdominal pain; Arthralgia | Yes | Yes | Group of 12 heterozygote patients | |
| 249100.G.3.3 | Jordan | Recurrent fever; Abdominal pain; Arthralgia | Yes | Yes | Group of patients including 1 homozygote and 6 heterozygotes | |
| 249100.G.3.5 | Jordan | Recurrent fever; Abdominal pain; Arthralgia | Yes | Yes | Group of 2 heterozygote patients |