Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |