| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49185198G>A | CA16619548 | TUBA1A | c.1168C>T (p.Arg390Cys) c.1063C>T (p.Arg355Cys) n.2201C>T c.*624C>T (n.*624C>T) | ClinVar dbSNP |
| 12 | g.49185198G>C | CA384635119 | TUBA1A | c.1168C>G (p.Arg390Gly) c.1063C>G (p.Arg355Gly) n.2201C>G c.*624C>G (n.*624C>G) | ClinVar dbSNP |