| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55509618-C-T | PCSK9 | c.310C>T | p.R104C | Missense | 2/12 | - |
| 19-11221402-CTG-GAC | LDLR | c.1015_1017delCTGinsGAC | p.L339D | Missense | 7/18 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Y142* | Nonsense | 3/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 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 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.C679* | Nonsense | 12/12 | - |
| 1-55509649-T-C | PCSK9 | c.341T>C | p.V114A | Missense | 2/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.R218S | Missense | 4/12 | - |
| 1-55518341-CA-GC | PCSK9 | c.676_677delCAinsGC | p.H226A | Missense | 5/12 | - |