| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3728803G>C | CA394553818 | CREBBP | c.6244C>G (p.Gln2082Glu) c.6130C>G (p.Gln2044Glu) c.6199C>G (p.Gln2067Glu) c.5827C>G (p.Gln1943Glu) c.5983C>G (p.Gln1995Glu) c.6190C>G (p.Gln2064Glu) c.5491C>G (p.Gln1831Glu) c.6238C>G (p.Gln2080Glu) | dbSNP |
| 16 | g.3728803G>A | CA16043513 | CREBBP | c.6244C>T (p.Gln2082Ter) c.6130C>T (p.Gln2044Ter) c.6199C>T (p.Gln2067Ter) c.5827C>T (p.Gln1943Ter) c.5983C>T (p.Gln1995Ter) c.6190C>T (p.Gln2064Ter) c.5491C>T (p.Gln1831Ter) c.6238C>T (p.Gln2080Ter) | ClinVar dbSNP |
| 16 | g.3728803G>T | CA394553819 | CREBBP | c.6244C>A (p.Gln2082Lys) c.6130C>A (p.Gln2044Lys) c.6199C>A (p.Gln2067Lys) c.5827C>A (p.Gln1943Lys) c.5983C>A (p.Gln1995Lys) c.6190C>A (p.Gln2064Lys) c.5491C>A (p.Gln1831Lys) c.6238C>A (p.Gln2080Lys) | dbSNP |