| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
| 2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
| 2-21250914-G-A | APOB | c.1853C>T | p.Ala618Val | Missense | 14/29 | - |
| 1-55505520-G-A | PCSK9 | c.10G>A | p.Val4Ile | Missense | 1/12 | - |
| 1-55509585-C-T | PCSK9 | c.277C>T | p.Arg93Cys | Missense | 2/12 | - |
| 1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
| 2-21235475-T-G | APOB | c.4265A>C | p.Tyr1422Ser | Missense | 26/29 | - |
| 2-21235475-T-A | APOB | c.4265A>T | p.Tyr1422Phe | Missense | 26/29 | - |
| 2-21235475-T-C | APOB | c.4265A>G | p.Tyr1422Cys | Missense | 26/29 | - |
| 2-21232803-T-A | APOB | c.6937A>T | p.Ile2313Phe | Missense | 26/29 | - |
| 2-21232803-T-C | APOB | c.6937A>G | p.Ile2313Val | Missense | 26/29 | - |
| 2-21247843-G-T | APOB | c.2398C>A | p.Leu800Met | Missense | 16/29 | - |
| 2-21231524-G-A | APOB | c.8216C>T | p.Pro2739Leu | Missense | 26/29 | - |
| 2-21228620-G-A | APOB | c.11120C>T | p.Ala3707Val | Missense | 26/29 | - |
| 2-21252534-G-A | APOB | c.1594C>T | p.Arg532Trp | Missense | 12/29 | - |
| 2-21231387-T-G | APOB | c.8353A>C | p.Asn2785His | Missense | 26/29 | - |
| 1-55524312-C-T | PCSK9 | c.1495C>T | p.Arg499Cys | Missense | 9/12 | - |
| 2-21255236-C-T | APOB | c.1342G>A | p.Ala448Thr | Missense | 10/29 | - |
| 2-21266783-A-G | APOB | c.35T>C | p.Leu12Pro | Missense | 1/29 | - |
| 2-21225281-C-T | APOB | c.13013G>A | p.Ser4338Asn | Missense | 29/29 | - |
| 2-21260084-G-A | APOB | c.581C>T | p.Thr194Met | Missense | 6/29 | - |
| 2-21227212-C-T | APOB | c.12016G>A | p.Val4006Ile | Missense | 28/29 | - |
| 1-55529226-A-AA | PCSK9 | c.2048_2048dupA | p.His683Glnfs*28 | Frameshift | 12/12 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |