| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
| 1-55518081-A-C | PCSK9 | c.654A>C | p.Arg218Ser | Missense | 4/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |
| 10-74908159-G-A | ECD | c.916C>T | p.His306Tyr | Missense | 8/14 | - |