| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3757894T>C | CA254814 | CREBBP | c.3524A>G (p.Tyr1175Cys) c.3410A>G (p.Tyr1137Cys) c.2129A>G (p.Tyr710Cys) c.3479A>G (p.Tyr1160Cys) c.3107A>G (p.Tyr1036Cys) c.3470A>G (p.Tyr1157Cys) c.2771A>G (p.Tyr924Cys) c.3518A>G (p.Tyr1173Cys) | ClinVar dbSNP |
| 16 | g.3757894T= | CA2202943259 | CREBBP | c.3524A= (p.Tyr1175=) c.3410A= (p.Tyr1137=) c.2129A= (p.Tyr710=) c.3479A= (p.Tyr1160=) c.3107A= (p.Tyr1036=) c.3470A= (p.Tyr1157=) c.2771A= (p.Tyr924=) c.3518A= (p.Tyr1173=) | dbSNP |
| 16 | g.3757894T>A | CA394568737 | CREBBP | c.3524A>T (p.Tyr1175Phe) c.3410A>T (p.Tyr1137Phe) c.2129A>T (p.Tyr710Phe) c.3479A>T (p.Tyr1160Phe) c.3107A>T (p.Tyr1036Phe) c.3470A>T (p.Tyr1157Phe) c.2771A>T (p.Tyr924Phe) c.3518A>T (p.Tyr1173Phe) | dbSNP gnomAD v4 |