| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219250740C>T | CA185900 | TUBA4A | c.959G>A (p.Arg320His) c.914G>A (p.Arg305His) n.779G>A c.500G>A (p.Arg167His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219250740C= | CA1329131071 | TUBA4A | c.959G= (p.Arg320=) c.914G= (p.Arg305=) n.779G= c.500G= (p.Arg167=) | dbSNP |