| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3731314A>G | CA271427 | CREBBP | c.5050T>C (p.Ser1684Pro) c.4936T>C (p.Ser1646Pro) c.5005T>C (p.Ser1669Pro) c.4633T>C (p.Ser1545Pro) c.4789T>C (p.Ser1597Pro) c.4996T>C (p.Ser1666Pro) c.4297T>C (p.Ser1433Pro) c.5044T>C (p.Ser1682Pro) | ClinVar dbSNP |
| 16 | g.3731314A>T | CA394558496 | CREBBP | c.5050T>A (p.Ser1684Thr) c.4936T>A (p.Ser1646Thr) c.5005T>A (p.Ser1669Thr) c.4633T>A (p.Ser1545Thr) c.4789T>A (p.Ser1597Thr) c.4996T>A (p.Ser1666Thr) c.4297T>A (p.Ser1433Thr) c.5044T>A (p.Ser1682Thr) | dbSNP |
| 16 | g.3731314A>C | CA394558495 | CREBBP | c.5050T>G (p.Ser1684Ala) c.4936T>G (p.Ser1646Ala) c.5005T>G (p.Ser1669Ala) c.4633T>G (p.Ser1545Ala) c.4789T>G (p.Ser1597Ala) c.4996T>G (p.Ser1666Ala) c.4297T>G (p.Ser1433Ala) c.5044T>G (p.Ser1682Ala) | dbSNP gnomAD v4 |
| 16 | g.3731314A= | CA2202929965 | CREBBP | c.5050T= (p.Ser1684=) c.4936T= (p.Ser1646=) c.5005T= (p.Ser1669=) c.4633T= (p.Ser1545=) c.4789T= (p.Ser1597=) c.4996T= (p.Ser1666=) c.4297T= (p.Ser1433=) c.5044T= (p.Ser1682=) | dbSNP |