| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3736702T>A | CA394563547 | CREBBP | c.4508A>T (p.Tyr1503Phe) c.4394A>T (p.Tyr1465Phe) c.3143A>T (p.Tyr1048Phe) n.298A>T n.329A>T n.3331A>T c.4463A>T (p.Tyr1488Phe) c.4091A>T (p.Tyr1364Phe) c.4247A>T (p.Tyr1416Phe) c.4454A>T (p.Tyr1485Phe) c.3755A>T (p.Tyr1252Phe) c.4502A>T (p.Tyr1501Phe) | ClinVar dbSNP COSMIC |
| 16 | g.3736702T>C | CA271419 | CREBBP | c.4508A>G (p.Tyr1503Cys) c.4394A>G (p.Tyr1465Cys) c.3143A>G (p.Tyr1048Cys) n.298A>G n.329A>G n.3331A>G c.4463A>G (p.Tyr1488Cys) c.4091A>G (p.Tyr1364Cys) c.4247A>G (p.Tyr1416Cys) c.4454A>G (p.Tyr1485Cys) c.3755A>G (p.Tyr1252Cys) c.4502A>G (p.Tyr1501Cys) | ClinVar dbSNP |
| 16 | g.3736702T>G | CA394563551 | CREBBP | c.4508A>C (p.Tyr1503Ser) c.4394A>C (p.Tyr1465Ser) c.3143A>C (p.Tyr1048Ser) n.298A>C n.329A>C n.3331A>C c.4463A>C (p.Tyr1488Ser) c.4091A>C (p.Tyr1364Ser) c.4247A>C (p.Tyr1416Ser) c.4454A>C (p.Tyr1485Ser) c.3755A>C (p.Tyr1252Ser) c.4502A>C (p.Tyr1501Ser) | dbSNP gnomAD v4 COSMIC |
| 16 | g.3736702T= | CA2202936603 | CREBBP | c.4508A= (p.Tyr1503=) c.4394A= (p.Tyr1465=) c.3143A= (p.Tyr1048=) n.298A= n.329A= n.3331A= c.4463A= (p.Tyr1488=) c.4091A= (p.Tyr1364=) c.4247A= (p.Tyr1416=) c.4454A= (p.Tyr1485=) c.3755A= (p.Tyr1252=) c.4502A= (p.Tyr1501=) | dbSNP |