| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55505668-C-G | PCSK9 | c.158C>G | p.Ala53Gly | Missense | 1/12 | - |
| 1-55512549-T-C | PCSK9 | c.523+230T>C | - | IntronicSNV | - | 3/11 |
| 1-55512549-T-A | PCSK9 | c.523+230T>A | - | IntronicSNV | - | 3/11 |
| 1-55509872-T-C | PCSK9 | c.399+165T>C | - | IntronicSNV | - | 2/11 |
| 1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
| 1-55519015-G-A | PCSK9 | c.799+551G>A | - | IntronicSNV | - | 5/11 |
| 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 | - |
| 1-55529828-C-T | PCSK9 | c.*571C>T | - | 3-UTRSNV | 12/12 | - |
| 1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
| 1-151502020-T-A | CGN | c.2091T>A | p.Cys697* | Nonsense | 11/21 | - |
| 1-55518374-C-T | PCSK9 | c.709C>T | p.Arg237Trp | Missense | 5/12 | - |
| 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 | - |
| 1-55519015-G-T | PCSK9 | c.799+551G>T | - | IntronicSNV | - | 5/11 |