| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55505679-G-A | PCSK9 | c.169G>A | p.Glu57Lys | Missense | 1/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 1-55509688-GT-AG | PCSK9 | c.380_381delGTinsAG | p.Ser127Lys | Missense | 2/12 | - |
| 1-55518081-A-C | PCSK9 | c.654A>C | p.Arg218Ser | Missense | 4/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |
| 1-55505604-G-A | PCSK9 | c.94G>A | p.Glu32Lys | Missense | 1/12 | - |
| 1-55509631-T-G | PCSK9 | c.323T>G | p.Leu108Arg | Missense | 2/12 | - |
| 1-55518071-G-A | PCSK9 | c.644G>A | p.Arg215His | Missense | 4/12 | - |
| 1-55523163-T-G | PCSK9 | c.1156T>G | p.Ser386Ala | Missense | 7/12 | - |
| 1-55518079-AGA-CAT | PCSK9 | c.652_654delAGAinsCAT | p.Arg218His | Missense | 4/12 | - |