| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8768248G>A | CA126278 | ABAT | c.659G>A (p.Arg220Lys) n.542G>A c.*399G>A (n.*399G>A) c.704G>A (p.Arg235Lys) c.596G>A (p.Arg199Lys) c.566G>A (p.Arg189Lys) c.524G>A (p.Arg175Lys) c.461G>A (p.Arg154Lys) c.413G>A (p.Arg138Lys) c.755G>A (p.Arg252Lys) | ClinVar dbSNP |
| 16 | g.8768248G= | CA2206113603 | ABAT | c.659G= (p.Arg220=) n.542G= c.*399G= (n.*399G=) c.704G= (p.Arg235=) c.596G= (p.Arg199=) c.566G= (p.Arg189=) c.524G= (p.Arg175=) c.461G= (p.Arg154=) c.413G= (p.Arg138=) c.755G= (p.Arg252=) | dbSNP |