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 |
|---|---|---|---|---|---|---|
| 603813.5.1 | Syria | Hypercholesterolemia; Xanthomatosis | Male | Yes | Yes | |
| 603813.5.2 | Syria | Hypercholesterolemia; Xanthomatosis | Female | Yes | Yes | |
| 603813.5.3 | Syria | Hypercholesterolemia; Xanthomatosis | Female | Yes | Yes | |
| 603813.5.4 | Syria | ; | Female | Mother of 603813.5.1 |