TABLE 1.
List of pathogenic variants in the families.
| Gene | APOA5 | LMF1 | LPL | ||||
|---|---|---|---|---|---|---|---|
| cDNA change | c.457G > A | c.107G > A | c.983T > C | c.106G > A | c.1322+15T > G | c.686A > T | c.856A > G |
| A.A change | p.V153M | p.G36D | p.M328T | p.D36N | - | p.H229L | p.S286G |
| exon No. | 5 | 1 | 6 | 2 | 8 | 5 | 6 |
| ExAC-All | 0.02 | 0.18 | Novel | 0.015 | Novel | Novel | Novel |
| GME-AP | 0.06 | 0.06 | Novel | 0.018 | Novel | Novel | Novel |
| Mutation Taster prediction | Polymorphism | Damaging | Probably harmless | - | Damaging | Damaging | |
| LRT prediction | Neutral | Neutral | Damaging | Neutral | - | Damaging | Damaging |
| CADD | 1.57 | 1.03 | 17.51 | 10.57 | - | 29.3 | 16.92 |
Allele frequencies were reported using ExAC-all and GME-AP databases. Exonic variant effects were assessed using the Mutation Taster, LRT, and CADD prediction tool.