Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
19-11240230-A-T | LDLR | c.2431A>T | p.Lys811* | Nonsense | 17/18 | - |
19-11221366-C-T | LDLR | c.979C>T | p.His327Tyr | Missense | 7/18 | - |