| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55512252-G-C | PCSK9 | c.456G>C | p.Gln152His | Missense | 3/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
| 1-55523779-C-A | PCSK9 | c.1251C>A | p.His417Gln | Missense | 8/12 | - |
| 1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
| 1-55518043-G-A | PCSK9 | c.616G>A | p.Glu206Lys | Missense | 4/12 | - |
| 1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 1-55509585-C-T | PCSK9 | c.277C>T | p.Arg93Cys | Missense | 2/12 | - |
| 1-230822720-A-G | COG2 | c.1420A>G | p.Ile474Val | Missense | 13/18 | - |
| 2-21250758-T-C | APOB | c.2009A>G | p.Glu670Gly | Missense | 14/29 | - |
| 1-55505571-C-CCTG | PCSK9 | c.61_62insCTG | p.Leu21delinsProval | MultiAAMissense | 1/12 | - |
| 1-55523802-A-G | PCSK9 | c.1274A>G | p.Asn425Ser | Missense | 8/12 | - |
| 1-55524222-C-T | PCSK9 | c.1405C>T | p.Arg469Trp | Missense | 9/12 | - |
| 1-55512252-G-T | PCSK9 | c.456G>T | p.Gln152His | Missense | 3/12 | - |
| 1-55525313-A-G | PCSK9 | c.1658A>G | p.His553Arg | Missense | 10/12 | - |