| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.12358732C>T | CA16043026 | AFG3L2 | c.*560G>A (n.*560G>A) c.964G>A (p.Glu322Lys) c.889G>A (p.Glu297Lys) c.*341G>A (n.*341G>A) n.782G>A c.599G>A | ClinVar dbSNP |
| 18 | g.12358732C= | CA2285209231 | AFG3L2 | c.*560G= (n.*560G=) c.964G= (p.Glu322=) c.889G= (p.Glu297=) c.*341G= (n.*341G=) n.782G= c.599G= | dbSNP |