| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11233940-G-A | LDLR | c.2231G>A | p.Arg744Gln | Missense | 15/18 | - |
| 19-11217264-G-A | LDLR | c.718G>A | p.Glu240Lys | Missense | 5/18 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
| 19-11234003-T-G | LDLR | c.2294T>G | p.Val765Gly | Missense | 15/18 | - |
| 1-55509582-G-A | PCSK9 | c.274G>A | p.Glu92Lys | Missense | 2/12 | - |
| 19-11210979-G-T | LDLR | c.148G>T | p.Ala50Ser | Missense | 2/18 | - |
| 19-11240278-G-A | LDLR | c.2479G>A | p.Val827Ile | Missense | 17/18 | - |
| 19-11213417-G-A | LDLR | c.268G>A | p.Asp90Asn | Missense | 3/18 | - |
| 19-11222262-A-C | LDLR | c.1133A>C | p.Gln378Pro | Missense | 8/18 | - |
| 19-11213381-C-T | LDLR | c.232C>T | p.Arg78Cys | Missense | 3/18 | - |
| 19-11215908-G-A | LDLR | c.326G>A | p.Cys109Tyr | Missense | 4/18 | - |
| 19-11216275-C-G | LDLR | c.693C>G | p.Cys231Trp | Missense | 4/18 | - |
| 19-11227645-G-T | LDLR | c.1816G>T | p.Ala606Ser | Missense | 12/18 | - |