| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.181712419dup | CA2717230 | SOX2,SOX2-OT | c.59dup (p.Gly21ArgfsTer?) n.768-2766dup n.767+12536dup n.482-27150dup n.783-2766dup n.782+12536dup n.473-27150dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.181712418_181712419dup | CA259678 | SOX2,SOX2-OT | c.58_59dup (p.Gly21AlafsTer26) n.768-2767_768-2766dup n.767+12535_767+12536dup n.482-27151_482-27150dup n.783-2767_783-2766dup n.782+12535_782+12536dup n.473-27151_473-27150dup | ClinVar dbSNP |
| 3 | g.181712419del | CA913102445 | SOX2,SOX2-OT | c.59del (p.Gly20AlafsTer26) n.768-2766del n.767+12536del n.482-27150del n.783-2766del n.782+12536del n.473-27150del | ClinVar dbSNP gnomAD v4 |