Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015627.2:c.89-1G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603813.4.1 | Lebanon | Hypercholesterolemia; Xanthomatosis; | Male | No | Yes | |
| 603813.4.2 | Lebanon | ; | Male | Yes | Brother of 603813.4.1 | |
| 603813.4.3 | Lebanon | ; | Female | Mother of 603813.4.1 |