Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
2-242794829-GA-CG | PDCD1 | c.379_380delTCinsCG | p.S127R | Missense | 2/5 | - |
3-46902303-G-C | MYL3 | c.170C>G | p.A57G | Missense | 3/7 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
1-55518075-C-A | PCSK9 | c.648C>A | p.F216L | Missense | 4/12 | - |
1-55518075-C-G | PCSK9 | c.648C>G | p.F216L | Missense | 4/12 | - |
3-46902303-G-T | MYL3 | c.170C>A | p.A57D | Missense | 3/7 | - |