| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55505640-G-C | PCSK9 | c.130G>C | p.Ala44Pro | Missense | 1/12 | - |
| 1-55525200-T-G | PCSK9 | c.1545T>G | p.Phe515Leu | Missense | 10/12 | - |
| 1-55524303-C-T | PCSK9 | c.1486C>T | p.Arg496Trp | Missense | 9/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55505623-A-T | PCSK9 | c.113A>T | p.Tyr38Phe | Missense | 1/12 | - |
| 1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
| 1-55505622-TAC-AAG | PCSK9 | c.112_114delTACinsAAG | p.Tyr38Lys | Missense | 1/12 | - |
| 1-55505622-TAC-GAG | PCSK9 | c.112_114delTACinsGAG | p.Tyr38Glu | Missense | 1/12 | - |
| 1-55505622-TA-CG | PCSK9 | c.112_113delTAinsCG | p.Tyr38Arg | Missense | 1/12 | - |
| 1-55505622-TA-CT | PCSK9 | c.112_113delTAinsCT | p.Tyr38Leu | Missense | 1/12 | - |
| 19-11216264-G-A | LDLR | c.682G>A | p.Glu228Lys | Missense | 4/18 | - |
| 1-55505632-T-C | PCSK9 | c.122T>C | p.Leu41Pro | Missense | 1/12 | - |
| 1-55505622-TA-GC | PCSK9 | c.112_113delTAinsGC | p.Tyr38Ala | Missense | 1/12 | - |
| 1-55524222-C-T | PCSK9 | c.1405C>T | p.Arg469Trp | Missense | 9/12 | - |