| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3736812A>T | CA271413 | CREBBP | c.4398T>A (p.Tyr1466Ter) c.4284T>A (p.Tyr1428Ter) c.3033T>A (p.Tyr1011Ter) n.188T>A n.219T>A n.3221T>A c.4353T>A (p.Tyr1451Ter) c.3981T>A (p.Tyr1327Ter) c.4137T>A (p.Tyr1379Ter) c.4344T>A (p.Tyr1448Ter) c.3645T>A (p.Tyr1215Ter) c.4392T>A (p.Tyr1464Ter) | ClinVar dbSNP |
| 16 | g.3736812A>G | CA7869521 | CREBBP | c.4398T>C (p.Tyr1466=) c.4284T>C (p.Tyr1428=) c.3033T>C (p.Tyr1011=) n.188T>C n.219T>C n.3221T>C c.4353T>C (p.Tyr1451=) c.3981T>C (p.Tyr1327=) c.4137T>C (p.Tyr1379=) c.4344T>C (p.Tyr1448=) c.3645T>C (p.Tyr1215=) c.4392T>C (p.Tyr1464=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |