| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
| 1-55518422-C-T | PCSK9 | c.757C>T | p.Leu253Phe | Missense | 5/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
| 1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
| 1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
| 1-55523802-A-G | PCSK9 | c.1274A>G | p.Asn425Ser | Missense | 8/12 | - |
| 1-55518093-G-A | PCSK9 | c.657+9G>A | - | IntronicSNV | - | 4/11 |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |