Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55505668-C-G | PCSK9 | c.158C>G | p.A53G | Missense | 1/12 | - |
1-55505647-G-A | PCSK9 | c.137G>A | p.R46H | Missense | 1/12 | - |
1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
1-55505668-C-T | PCSK9 | c.158C>T | p.A53V | Missense | 1/12 | - |