| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55527158-G-A | PCSK9 | c.1792G>A | p.Ala598Thr | Missense | 11/12 | - |
| 19-11231112-C-T | LDLR | c.2054C>T | p.Pro685Leu | Missense | 14/18 | - |
| 1-25881393-G-A | LDLRAP1 | c.274G>A | p.Val92Met | Missense | 3/9 | - |
| 1-55509585-C-T | PCSK9 | c.277C>T | p.Arg93Cys | Missense | 2/12 | - |
| 19-11218178-A-T | LDLR | c.928A>T | p.Ile310Phe | Missense | 6/18 | - |
| 19-11213390-C-T | LDLR | c.241C>T | p.Arg81Cys | Missense | 3/18 | - |
| 19-11213441-G-A | LDLR | c.292G>A | p.Gly98Ser | Missense | 3/18 | - |
| 19-11221444-G-A | LDLR | c.1057G>A | p.Glu353Lys | Missense | 7/18 | - |
| 19-11238692-G-A | LDLR | c.2320G>A | p.Asp774Asn | Missense | 16/18 | - |
| 19-11230789-A-T | LDLR | c.1867A>T | p.Ile623Phe | Missense | 13/18 | - |
| 19-11224368-G-A | LDLR | c.1516G>A | p.Val506Met | Missense | 10/18 | - |
| 1-25870254-G-C | LDLRAP1 | c.65G>C | p.Trp22Ser | Missense | 1/9 | - |
| 19-11222300-G-A | LDLR | c.1171G>A | p.Ala391Thr | Missense | 8/18 | - |
| 19-11224377-A-G | LDLR | c.1525A>G | p.Lys509Glu | Missense | 10/18 | - |
| 1-55529132-A-G | PCSK9 | c.1954A>G | p.Asn652Asp | Missense | 12/12 | - |
| 1-55512313-C-T | PCSK9 | c.517C>T | p.Pro173Ser | Missense | 3/12 | - |
| 19-11210960-G-C | LDLR | c.129G>C | p.Lys43Asn | Missense | 2/18 | - |
| 2-21229161-G-A | APOB | c.10579C>T | p.Arg3527Trp | Missense | 26/29 | - |
| 19-11226874-A-G | LDLR | c.1691A>G | p.Asn564Ser | Missense | 11/18 | - |