| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3778098del | CA271370 | CREBBP | c.2026del (p.Gln676LysfsTer19) c.1912del (p.Gln638LysfsTer19) c.631del (p.Gln211LysfsTer19) c.75del c.339del n.188del c.1972del (p.Gln658LysfsTer19) c.1273del (p.Gln425LysfsTer19) | ClinVar dbSNP |
| 16 | g.3778098G= | CA3217598490 | CREBBP | c.2026C= (p.Gln676=) c.1912C= (p.Gln638=) c.631C= (p.Gln211=) c.75C= c.339C= n.188C= c.1972C= (p.Gln658=) c.1273C= (p.Gln425=) | dbSNP dbSNP |