| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729477T>C | CA394555993 | CREBBP | c.5570A>G (p.His1857Arg) c.5456A>G (p.His1819Arg) c.5525A>G (p.His1842Arg) c.5153A>G (p.His1718Arg) c.5309A>G (p.His1770Arg) c.5516A>G (p.His1839Arg) c.4817A>G (p.His1606Arg) c.5564A>G (p.His1855Arg) | dbSNP |
| 16 | g.3729477T>A | CA394555992 | CREBBP | c.5570A>T (p.His1857Leu) c.5456A>T (p.His1819Leu) c.5525A>T (p.His1842Leu) c.5153A>T (p.His1718Leu) c.5309A>T (p.His1770Leu) c.5516A>T (p.His1839Leu) c.4817A>T (p.His1606Leu) c.5564A>T (p.His1855Leu) | dbSNP |
| 16 | g.3729477T>G | CA16620198 | CREBBP | c.5570A>C (p.His1857Pro) c.5456A>C (p.His1819Pro) c.5525A>C (p.His1842Pro) c.5153A>C (p.His1718Pro) c.5309A>C (p.His1770Pro) c.5516A>C (p.His1839Pro) c.4817A>C (p.His1606Pro) c.5564A>C (p.His1855Pro) | ClinVar dbSNP |