| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |
| 1-55512267-C-A | PCSK9 | c.471C>A | p.Asn157Lys | Missense | 3/12 | - |
| 20-3063392-T-G | AVP | c.379A>C | p.Ser127Arg | Missense | 3/3 | - |
| 1-55509694-A-G | PCSK9 | c.386A>G | p.Asp129Gly | Missense | 2/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55523127-G-C | PCSK9 | c.1120G>C | p.Asp374His | Missense | 7/12 | - |
| 1-55512299-C-A | PCSK9 | c.503C>A | p.Ala168Glu | Missense | 3/12 | - |
| 20-3063390-G-T | AVP | c.381C>A | p.Ser127Arg | Missense | 3/3 | - |
| 7-107848050-C-A | NRCAM | c.1129G>T | p.Asp377Tyr | Missense | 13/33 | - |
| 19-45412053-CTCC-C | APOE | c.500_502delTCC | p.Leu167delLeu | InFrameDeletion | 4/4 | - |
| 20-3063390-G-C | AVP | c.381C>G | p.Ser127Arg | Missense | 3/3 | - |