| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3728059G>A | CA16620193 | CREBBP | c.6988C>T (p.Leu2330Phe) c.6874C>T (p.Leu2292Phe) c.6943C>T (p.Leu2315Phe) c.6571C>T (p.Leu2191Phe) c.6727C>T (p.Leu2243Phe) c.6934C>T (p.Leu2312Phe) c.6235C>T (p.Leu2079Phe) c.6982C>T (p.Leu2328Phe) | ClinVar dbSNP |
| 16 | g.3728059G>C | CA394550927 | CREBBP | c.6988C>G (p.Leu2330Val) c.6874C>G (p.Leu2292Val) c.6943C>G (p.Leu2315Val) c.6571C>G (p.Leu2191Val) c.6727C>G (p.Leu2243Val) c.6934C>G (p.Leu2312Val) c.6235C>G (p.Leu2079Val) c.6982C>G (p.Leu2328Val) | ClinVar dbSNP |
| 16 | g.3728059G= | CA2202928462 | CREBBP | c.6988C= (p.Leu2330=) c.6874C= (p.Leu2292=) c.6943C= (p.Leu2315=) c.6571C= (p.Leu2191=) c.6727C= (p.Leu2243=) c.6934C= (p.Leu2312=) c.6235C= (p.Leu2079=) c.6982C= (p.Leu2328=) | dbSNP |