| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55523077-G-A | PCSK9 | c.1070G>A | p.Arg357His | Missense | 7/12 | - |
| 19-11224103-C-G | LDLR | c.1336C>G | p.Leu446Val | Missense | 9/18 | - |
| 1-55529106-A-G | PCSK9 | c.1928A>G | p.His643Arg | Missense | 12/12 | - |
| 1-55505613-G-T | PCSK9 | c.103G>T | p.Asp35Tyr | Missense | 1/12 | - |
| 1-55524222-C-T | PCSK9 | c.1405C>T | p.Arg469Trp | Missense | 9/12 | - |
| 1-55521857-C-G | PCSK9 | c.991C>G | p.Pro331Ala | Missense | 6/12 | - |
| 19-11213409-G-A | LDLR | c.260G>A | p.Trp87* | Nonsense | 3/18 | - |
| 1-55529084-A-C | PCSK9 | c.1906A>C | p.Ser636Arg | Missense | 12/12 | - |
| 19-11213410-G-A | LDLR | c.261G>A | p.Trp87* | Nonsense | 3/18 | - |
| 1-55523076-C-T | PCSK9 | c.1069C>T | p.Arg357Cys | Missense | 7/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55524211-C-T | PCSK9 | c.1394C>T | p.Ser465Leu | Missense | 9/12 | - |