| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219250741G>A | CA185899 | TUBA4A | c.958C>T (p.Arg320Cys) c.913C>T (p.Arg305Cys) n.778C>T c.499C>T (p.Arg167Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219250741G= | CA1329131072 | TUBA4A | c.958C= (p.Arg320=) c.913C= (p.Arg305=) n.778C= c.499C= (p.Arg167=) | dbSNP |