Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55505595-C-G | PCSK9 | c.85C>G | p.Arg29Gly | Missense | 1/12 | - |
7-87190703-T-A | ABCB1 | c.703A>T | p.Ile235Leu | Missense | 9/29 | - |
7-87190703-T-G | ABCB1 | c.703A>C | p.Ile235Leu | Missense | 9/29 | - |
7-155090065-C-G | INSIG1 | c.70C>G | p.Arg24Gly | Missense | 2/6 | - |