| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3728336G>A | CA148148 | CREBBP | c.6711C>T (p.Pro2237=) c.6597C>T (p.Pro2199=) c.6666C>T (p.Pro2222=) c.6294C>T (p.Pro2098=) c.6450C>T (p.Pro2150=) c.6657C>T (p.Pro2219=) c.5958C>T (p.Pro1986=) c.6705C>T (p.Pro2235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3728336G= | CA2202928595 | CREBBP | c.6711C= (p.Pro2237=) c.6597C= (p.Pro2199=) c.6666C= (p.Pro2222=) c.6294C= (p.Pro2098=) c.6450C= (p.Pro2150=) c.6657C= (p.Pro2219=) c.5958C= (p.Pro1986=) c.6705C= (p.Pro2235=) | dbSNP |