| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3758886G>A | CA222692 | CREBBP | c.3337C>T (p.Gln1113Ter) c.3223C>T (p.Gln1075Ter) c.1942C>T (p.Gln648Ter) c.3292C>T (p.Gln1098Ter) c.2920C>T (p.Gln974Ter) c.3283C>T (p.Gln1095Ter) c.2584C>T (p.Gln862Ter) c.3331C>T (p.Gln1111Ter) | ClinVar dbSNP |
| 16 | g.3758886G= | CA2202944187 | CREBBP | c.3337C= (p.Gln1113=) c.3223C= (p.Gln1075=) c.1942C= (p.Gln648=) c.3292C= (p.Gln1098=) c.2920C= (p.Gln974=) c.3283C= (p.Gln1095=) c.2584C= (p.Gln862=) c.3331C= (p.Gln1111=) | dbSNP |