| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.49991810del | CA658684129 | DLX3 | c.574del (p.Glu192ArgfsTer?) c.214del (p.Glu72ArgfsTer?) c.516+1593del (n.516+1593del) | ClinVar dbSNP |
| 17 | g.49991810dup | CA16043533 | DLX3 | c.574dup (p.Glu192GlyfsTer10) c.214dup (p.Glu72GlyfsTer10) c.516+1593dup (n.516+1593dup) | ClinVar dbSNP |