Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
1-55523828-C-T | PCSK9 | c.1300C>T | p.Arg434Trp | Missense | 8/12 | - |
1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
1-55505553-CTG-ATC | PCSK9 | c.43_45delCTGinsATC | p.Leu15Ile | Missense | 1/12 | - |