Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55523127-G-C | PCSK9 | c.1120G>C | p.Asp374His | Missense | 7/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
1-55523128-A-C | PCSK9 | c.1121A>C | p.Asp374Ala | Missense | 7/12 | - |