| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3736766A>G | CA394563921 | CREBBP | c.4444T>C (p.Tyr1482His) c.4330T>C (p.Tyr1444His) c.3079T>C (p.Tyr1027His) n.234T>C n.265T>C n.3267T>C c.4399T>C (p.Tyr1467His) c.4027T>C (p.Tyr1343His) c.4183T>C (p.Tyr1395His) c.4390T>C (p.Tyr1464His) c.3691T>C (p.Tyr1231His) c.4438T>C (p.Tyr1480His) | dbSNP gnomAD v4 COSMIC |
| 16 | g.3736766A>C | CA271415 | CREBBP | c.4444T>G (p.Tyr1482Asp) c.4330T>G (p.Tyr1444Asp) c.3079T>G (p.Tyr1027Asp) n.234T>G n.265T>G n.3267T>G c.4399T>G (p.Tyr1467Asp) c.4027T>G (p.Tyr1343Asp) c.4183T>G (p.Tyr1395Asp) c.4390T>G (p.Tyr1464Asp) c.3691T>G (p.Tyr1231Asp) c.4438T>G (p.Tyr1480Asp) | ClinVar dbSNP |
| 16 | g.3736766A>T | CA394563923 | CREBBP | c.4444T>A (p.Tyr1482Asn) c.4330T>A (p.Tyr1444Asn) c.3079T>A (p.Tyr1027Asn) n.234T>A n.265T>A n.3267T>A c.4399T>A (p.Tyr1467Asn) c.4027T>A (p.Tyr1343Asn) c.4183T>A (p.Tyr1395Asn) c.4390T>A (p.Tyr1464Asn) c.3691T>A (p.Tyr1231Asn) c.4438T>A (p.Tyr1480Asn) | dbSNP COSMIC |
| 16 | g.3736766A= | CA2202936695 | CREBBP | c.4444T= (p.Tyr1482=) c.4330T= (p.Tyr1444=) c.3079T= (p.Tyr1027=) n.234T= n.265T= n.3267T= c.4399T= (p.Tyr1467=) c.4027T= (p.Tyr1343=) c.4183T= (p.Tyr1395=) c.4390T= (p.Tyr1464=) c.3691T= (p.Tyr1231=) c.4438T= (p.Tyr1480=) | dbSNP |