| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3736729G>C | CA222697 | CREBBP | c.4481C>G (p.Pro1494Arg) c.4367C>G (p.Pro1456Arg) c.3116C>G (p.Pro1039Arg) n.271C>G n.302C>G n.3304C>G c.4436C>G (p.Pro1479Arg) c.4064C>G (p.Pro1355Arg) c.4220C>G (p.Pro1407Arg) c.4427C>G (p.Pro1476Arg) c.3728C>G (p.Pro1243Arg) c.4475C>G (p.Pro1492Arg) | ClinVar dbSNP |
| 16 | g.3736729G>A | CA394563689 | CREBBP | c.4481C>T (p.Pro1494Leu) c.4367C>T (p.Pro1456Leu) c.3116C>T (p.Pro1039Leu) n.271C>T n.302C>T n.3304C>T c.4436C>T (p.Pro1479Leu) c.4064C>T (p.Pro1355Leu) c.4220C>T (p.Pro1407Leu) c.4427C>T (p.Pro1476Leu) c.3728C>T (p.Pro1243Leu) c.4475C>T (p.Pro1492Leu) | dbSNP |
| 16 | g.3736729G>T | CA394563693 | CREBBP | c.4481C>A (p.Pro1494His) c.4367C>A (p.Pro1456His) c.3116C>A (p.Pro1039His) n.271C>A n.302C>A n.3304C>A c.4436C>A (p.Pro1479His) c.4064C>A (p.Pro1355His) c.4220C>A (p.Pro1407His) c.4427C>A (p.Pro1476His) c.3728C>A (p.Pro1243His) c.4475C>A (p.Pro1492His) | dbSNP |