| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50706117G>A | CA16621137 | SHANK3 | c.1676G>A (p.Arg559His) n.2260G>A c.728G>A (p.Arg243His) c.218G>A (p.Arg73His) c.*674G>A (n.*674G>A) c.2072G>A (p.Arg691His) c.2054G>A (p.Arg685His) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50706117G= | CA2410999954 | SHANK3 | c.1676G= (p.Arg559=) n.2260G= c.728G= (p.Arg243=) c.218G= (p.Arg73=) c.*674G= (n.*674G=) c.2072G= (p.Arg691=) c.2054G= (p.Arg685=) | dbSNP |