Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
1-55518075-C-A | PCSK9 | c.648C>A | p.F216L | Missense | 4/12 | - |
1-55518075-C-G | PCSK9 | c.648C>G | p.F216L | Missense | 4/12 | - |