| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3781290del | CA271364 | CREBBP | c.1590del (p.Asn530LysfsTer7) c.1476del (p.Asn492LysfsTer7) c.195del (p.Asn65LysfsTer7) c.1536del (p.Asn512LysfsTer7) c.837del (p.Asn279LysfsTer7) | ClinVar dbSNP |
| 16 | g.3781290G= | CA3217598491 | CREBBP | c.1590C= (p.Asn530=) c.1476C= (p.Asn492=) c.195C= (p.Asn65=) c.1536C= (p.Asn512=) c.837C= (p.Asn279=) | dbSNP dbSNP |