| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49185142G>A | CA6550208 | TUBA1A | c.1224C>T (p.Tyr408=) c.1119C>T (p.Tyr373=) n.2257C>T c.*680C>T (n.*680C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185142G>T | CA250399 | TUBA1A | c.1224C>A (p.Tyr408Ter) c.1119C>A (p.Tyr373Ter) n.2257C>A c.*680C>A (n.*680C>A) | ClinVar dbSNP |