| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3770791G>T | CA394551285 | CREBBP | c.2659C>A (p.Gln887Lys) c.2545C>A (p.Gln849Lys) c.1264C>A (p.Gln422Lys) c.2614C>A (p.Gln872Lys) c.2464-1438C>A (n.2464-1438C>A) c.2605C>A (p.Gln869Lys) c.1906C>A (p.Gln636Lys) c.2653C>A (p.Gln885Lys) | dbSNP |
| 16 | g.3770791G>C | CA394551284 | CREBBP | c.2659C>G (p.Gln887Glu) c.2545C>G (p.Gln849Glu) c.1264C>G (p.Gln422Glu) c.2614C>G (p.Gln872Glu) c.2464-1438C>G (n.2464-1438C>G) c.2605C>G (p.Gln869Glu) c.1906C>G (p.Gln636Glu) c.2653C>G (p.Gln885Glu) | dbSNP |
| 16 | g.3770791G>A | CA16607300 | CREBBP | c.2659C>T (p.Gln887Ter) c.2545C>T (p.Gln849Ter) c.1264C>T (p.Gln422Ter) c.2614C>T (p.Gln872Ter) c.2464-1438C>T (n.2464-1438C>T) c.2605C>T (p.Gln869Ter) c.1906C>T (p.Gln636Ter) c.2653C>T (p.Gln885Ter) | ClinVar dbSNP COSMIC |