Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.4:c.3883_3884insG | 2 | 2.5 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.69.2 | Lebanon | Respiratory tract infection; Chronic diarrhea; Cholestasis; Elevated sweat chloride | Male | Yes | Yes | Brother of the proband |
| 219700.69.3 | Lebanon | Male | Father of the proband | |||
| 219700.69.4 | Lebanon | Female | Mother of the proband |