Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
1-55518079-AG-GC | PCSK9 | c.652_653delAGinsGC | p.Arg218Ala | Missense | 4/12 | - |
1-55518070-CG-GC | PCSK9 | c.643_644delCGinsGC | p.Arg215Ala | Missense | 4/12 | - |
1-55518071-G-A | PCSK9 | c.644G>A | p.Arg215His | Missense | 4/12 | - |
1-55518081-A-C | PCSK9 | c.654A>C | p.Arg218Ser | Missense | 4/12 | - |
1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |