| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55518081-A-C | PCSK9 | c.654A>C | p.R218S | Missense | 4/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Y142* | Nonsense | 3/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.R218S | Missense | 4/12 | - |
| 1-55523811-G-A | PCSK9 | c.1283G>A | p.W428* | Nonsense | 8/12 | - |
| 1-55523812-G-A | PCSK9 | c.1284G>A | p.W428* | Nonsense | 8/12 | - |
| 1-55512252-G-T | PCSK9 | c.456G>T | p.Q152H | Missense | 3/12 | - |
| 1-55512252-G-C | PCSK9 | c.456G>C | p.Q152H | Missense | 3/12 | - |
| 1-55509552-CT-TA | PCSK9 | c.244_245delCTinsTA | p.L82* | Nonsense | 2/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.C679* | Nonsense | 12/12 | - |