| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729226G>A | CA271429 | CREBBP | c.5821C>T (p.Gln1941Ter) c.5707C>T (p.Gln1903Ter) c.5776C>T (p.Gln1926Ter) c.5404C>T (p.Gln1802Ter) c.5560C>T (p.Gln1854Ter) c.5767C>T (p.Gln1923Ter) c.5068C>T (p.Gln1690Ter) c.5815C>T (p.Gln1939Ter) | ClinVar dbSNP |
| 16 | g.3729226G= | CA2202916304 | CREBBP | c.5821C= (p.Gln1941=) c.5707C= (p.Gln1903=) c.5776C= (p.Gln1926=) c.5404C= (p.Gln1802=) c.5560C= (p.Gln1854=) c.5767C= (p.Gln1923=) c.5068C= (p.Gln1690=) c.5815C= (p.Gln1939=) | dbSNP |