| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
| 1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.C679* | Nonsense | 12/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Y142* | Nonsense | 3/12 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.G670E | Missense | 12/12 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
| 1-55518075-C-A | PCSK9 | c.648C>A | p.F216L | Missense | 4/12 | - |
| 1-55518075-C-G | PCSK9 | c.648C>G | p.F216L | Missense | 4/12 | - |
| 1-55523163-T-G | PCSK9 | c.1156T>G | p.S386A | Missense | 7/12 | - |
| 1-55529182-C-G | PCSK9 | c.2004C>G | p.S668R | Missense | 12/12 | - |
| 1-55529180-A-C | PCSK9 | c.2002A>C | p.S668R | Missense | 12/12 | - |
| 1-55524201-T-C | PCSK9 | c.1384T>C | p.S462P | Missense | 9/12 | - |
| 1-55529182-C-A | PCSK9 | c.2004C>A | p.S668R | Missense | 12/12 | - |
| 2-21263813-GA-CG | APOB | c.379_380delTCinsCG | p.S127R | Missense | 4/29 | - |