Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
1-55509585-CG-GC | PCSK9 | c.277_278delCGinsGC | p.Arg93Ala | Missense | 2/12 | - |
1-55509694-A-G | PCSK9 | c.386A>G | p.Asp129Gly | Missense | 2/12 | - |