Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
1-55509618-C-T | PCSK9 | c.310C>T | p.Arg104Cys | Missense | 2/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |