Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
1-55505647-G-A | PCSK9 | c.137G>A | p.R46H | Missense | 1/12 | - |
1-222804046-G-A | MIA3 | c.3169+315G>A | - | IntronicSNV | - | 4/27 |