| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219251266T>G | CA185905 | TUBA4A | c.388A>C (p.Thr130Pro) c.433A>C (p.Thr145Pro) c.-27A>C (n.-27A>C) c.502A>C (p.Thr168Pro) n.732A>C n.253A>C | ClinVar dbSNP |
| 2 | g.219251266T= | CA1329131289 | TUBA4A | c.388A= (p.Thr130=) c.433A= (p.Thr145=) c.-27A= (n.-27A=) c.502A= (p.Thr168=) n.732A= n.253A= | dbSNP |