| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.50903927del | CA16620938 | ADNP | c.70del (p.Ser24ValfsTer12) n.86-1818del c.-576-1818del (n.-576-1818del) c.286del (p.Ser96ValfsTer12) c.97del (p.Ser33ValfsTer12) | ClinVar dbSNP |
| 20 | g.50903927T= | CA3238048412 | ADNP | c.70A= (p.Ser24=) n.86-1818A= c.-576-1818A= (n.-576-1818A=) c.286A= (p.Ser96=) c.97A= (p.Ser33=) | dbSNP |