| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55512252-G-C | PCSK9 | c.456G>C | p.Gln152His | Missense | 3/12 | - |
| 1-55512252-G-T | PCSK9 | c.456G>T | p.Gln152His | Missense | 3/12 | - |
| 1-55512251-A-G | PCSK9 | c.455A>G | p.Gln152Arg | Missense | 3/12 | - |
| 1-55512259-C-G | PCSK9 | c.463C>G | p.Pro155Ala | Missense | 3/12 | - |
| 1-55512242-T-C | PCSK9 | c.446T>C | p.Val149Ala | Missense | 3/12 | - |
| 1-55512250-C-T | PCSK9 | c.454C>T | p.Gln152* | Nonsense | 3/12 | - |
| 1-55512244-TT-GC | PCSK9 | c.448_449delTTinsGC | p.Phe150Ala | Missense | 3/12 | - |
| 1-55512238-T-G | PCSK9 | c.442T>G | p.Ser148Ala | Missense | 3/12 | - |
| 1-55512250-CAG-ATC | PCSK9 | c.454_456delCAGinsATC | p.Gln152Ile | Missense | 3/12 | - |
| 1-55523163-T-G | PCSK9 | c.1156T>G | p.Ser386Ala | Missense | 7/12 | - |