| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89935065A>C | CA16042959 | TUBB3 | c.614A>C (p.Glu205Ala) n.4035A>C c.398A>C (p.Glu133Ala) c.277+1487A>C (n.277+1487A>C) c.*699A>C (n.*699A>C) c.*413A>C (n.*413A>C) c.1655A>C (p.Glu552Ala) | ClinVar dbSNP |
| 16 | g.89935065A= | CA2242019867 | TUBB3 | c.614A= (p.Glu205=) n.4035A= c.398A= (p.Glu133=) c.277+1487A= (n.277+1487A=) c.*699A= (n.*699A=) c.*413A= (n.*413A=) c.1655A= (p.Glu552=) | dbSNP |