| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3736765T>C | CA271417 | CREBBP | c.4445A>G (p.Tyr1482Cys) c.4331A>G (p.Tyr1444Cys) c.3080A>G (p.Tyr1027Cys) n.235A>G n.266A>G n.3268A>G c.4400A>G (p.Tyr1467Cys) c.4028A>G (p.Tyr1343Cys) c.4184A>G (p.Tyr1395Cys) c.4391A>G (p.Tyr1464Cys) c.3692A>G (p.Tyr1231Cys) c.4439A>G (p.Tyr1480Cys) | ClinVar dbSNP COSMIC |
| 16 | g.3736765T>G | CA394563918 | CREBBP | c.4445A>C (p.Tyr1482Ser) c.4331A>C (p.Tyr1444Ser) c.3080A>C (p.Tyr1027Ser) n.235A>C n.266A>C n.3268A>C c.4400A>C (p.Tyr1467Ser) c.4028A>C (p.Tyr1343Ser) c.4184A>C (p.Tyr1395Ser) c.4391A>C (p.Tyr1464Ser) c.3692A>C (p.Tyr1231Ser) c.4439A>C (p.Tyr1480Ser) | dbSNP COSMIC |