| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11213416-C-G | LDLR | c.267C>G | p.Cys89Trp | Missense | 3/18 | - |
| 19-11217342-G-A | LDLR | c.796G>A | p.Asp266Asn | Missense | 5/18 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
| 19-11234008-AA-A | LDLR | c.2299delA | p.Met767Cysfs*21 | Frameshift | 15/18 | - |
| 1-55512316-C-T | PCSK9 | c.520C>T | p.Pro174Ser | Missense | 3/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 19-11216025-G-C | LDLR | c.443G>C | p.Cys148Ser | Missense | 4/18 | - |
| 19-11221414-G-T | LDLR | c.1027G>T | p.Gly343Cys | Missense | 7/18 | - |
| 19-11240245-A-T | LDLR | c.2446A>T | p.Lys816* | Nonsense | 17/18 | - |
| 19-11227675-G-A | LDLR | c.1845+1G>A | - | IntronicSNV | - | 12/17 |
| 2-21252820-T-C | APOB | c.1420A>G | p.Ile474Val | Missense | 11/29 | - |
| 19-11222316-G-A | LDLR | c.1186+1G>A | - | IntronicSNV | - | 8/17 |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |