| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.47971del | CA665795620 | TUBB8 | c.426del (p.Thr143LeufsTer22) c.*89del (n.*89del) n.535del c.324del (p.Thr109LeufsTer22) c.*270del (n.*270del) c.315del (p.Thr106LeufsTer22) c.210del (p.Thr71LeufsTer22) c.64-97del (n.64-97del) c.90del (p.Thr31LeufsTer22) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.47971dup | CA5378507 | TUBB8 | c.426dup (p.Thr143AspfsTer12) c.*89dup (n.*89dup) n.535dup c.324dup (p.Thr109AspfsTer12) c.*270dup (n.*270dup) c.315dup (p.Thr106AspfsTer12) c.210dup (p.Thr71AspfsTer12) c.64-97dup (n.64-97dup) c.90dup (p.Thr31AspfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |