Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014339.7:c.163+1G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613953.3.1 | Algeria | Chronic mucocutaneous candidiasis | Female | Yes | Patient from 'kindred H' in the publication. | |
| 613953.3.2 | Algeria | Male | Father of 613953.3.1 |