| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
| 1-55505604-G-A | PCSK9 | c.94G>A | p.E32K | Missense | 1/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.C679* | Nonsense | 12/12 | - |
| 1-55512222-C-A | PCSK9 | c.426C>A | p.Y142* | Nonsense | 3/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Y142* | Nonsense | 3/12 | - |
| 1-55524237-G-A | PCSK9 | c.1420G>A | p.V474I | Missense | 9/12 | - |
| 1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
| 1-55518081-A-C | PCSK9 | c.654A>C | p.R218S | Missense | 4/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.R218S | Missense | 4/12 | - |
| 1-55509694-A-G | PCSK9 | c.386A>G | p.D129G | Missense | 2/12 | - |
| 1-55509631-T-G | PCSK9 | c.323T>G | p.L108R | Missense | 2/12 | - |
| 1-55509693-G-A | PCSK9 | c.385G>A | p.D129N | Missense | 2/12 | - |