| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
| 1-55518071-G-A | PCSK9 | c.644G>A | p.R215H | Missense | 4/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
| 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 | - |
| 1-55512252-G-T | PCSK9 | c.456G>T | p.Q152H | Missense | 3/12 | - |
| 1-55512252-G-C | PCSK9 | c.456G>C | p.Q152H | Missense | 3/12 | - |
| 1-55523855-G-A | PCSK9 | c.1327G>A | p.A443T | Missense | 8/12 | - |
| 1-55518422-C-T | PCSK9 | c.757C>T | p.L253F | Missense | 5/12 | - |
| 1-55518007-CG-GC | PCSK9 | c.580_581delCGinsGC | p.R194A | Missense | 4/12 | - |