| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.30724292G>A | CA449777168 | TUBB | c.1230G>A (p.Glu410=) n.2092G>A n.2296G>A c.1014G>A (p.Glu338=) c.1176G>A (p.Glu392=) c.1290G>A (p.Glu430=) c.624G>A (p.Glu208=) c.1098G>A (p.Glu366=) n.937G>A n.786G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.30724292G>T | CA363151660 | TUBB | c.1230G>T (p.Glu410Asp) n.2092G>T n.2296G>T c.1014G>T (p.Glu338Asp) c.1176G>T (p.Glu392Asp) c.1290G>T (p.Glu430Asp) c.624G>T (p.Glu208Asp) c.1098G>T (p.Glu366Asp) n.937G>T n.786G>T | ClinVar dbSNP |