| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729711A>T | CA394557127 | CREBBP | c.5336T>A (p.Leu1779Gln) c.5222T>A (p.Leu1741Gln) c.5291T>A (p.Leu1764Gln) c.4919T>A (p.Leu1640Gln) c.5075T>A (p.Leu1692Gln) c.5282T>A (p.Leu1761Gln) c.4583T>A (p.Leu1528Gln) c.5330T>A (p.Leu1777Gln) | dbSNP |
| 16 | g.3729711A>G | CA16620201 | CREBBP | c.5336T>C (p.Leu1779Pro) c.5222T>C (p.Leu1741Pro) c.5291T>C (p.Leu1764Pro) c.4919T>C (p.Leu1640Pro) c.5075T>C (p.Leu1692Pro) c.5282T>C (p.Leu1761Pro) c.4583T>C (p.Leu1528Pro) c.5330T>C (p.Leu1777Pro) | ClinVar dbSNP |