| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3739674G>C | CA394564894 | CREBBP | c.4184C>G (p.Ala1395Gly) c.4070C>G (p.Ala1357Gly) c.2819C>G (p.Ala940Gly) c.490C>G n.215+725C>G n.3121C>G c.4139C>G (p.Ala1380Gly) c.3767C>G (p.Ala1256Gly) c.4133+725C>G (n.4133+725C>G) c.4130C>G (p.Ala1377Gly) c.3431C>G (p.Ala1144Gly) c.4178C>G (p.Ala1393Gly) | dbSNP |
| 16 | g.3739674G>A | CA394564893 | CREBBP | c.4184C>T (p.Ala1395Val) c.4070C>T (p.Ala1357Val) c.2819C>T (p.Ala940Val) c.490C>T n.215+725C>T n.3121C>T c.4139C>T (p.Ala1380Val) c.3767C>T (p.Ala1256Val) c.4133+725C>T (n.4133+725C>T) c.4130C>T (p.Ala1377Val) c.3431C>T (p.Ala1144Val) c.4178C>T (p.Ala1393Val) | dbSNP |
| 16 | g.3739674G>T | CA16620205 | CREBBP | c.4184C>A (p.Ala1395Asp) c.4070C>A (p.Ala1357Asp) c.2819C>A (p.Ala940Asp) c.490C>A n.215+725C>A n.3121C>A c.4139C>A (p.Ala1380Asp) c.3767C>A (p.Ala1256Asp) c.4133+725C>A (n.4133+725C>A) c.4130C>A (p.Ala1377Asp) c.3431C>A (p.Ala1144Asp) c.4178C>A (p.Ala1393Asp) | ClinVar dbSNP |
| 16 | g.3739674G= | CA2202939933 | CREBBP | c.4184C= (p.Ala1395=) c.4070C= (p.Ala1357=) c.2819C= (p.Ala940=) c.490C= n.215+725C= n.3121C= c.4139C= (p.Ala1380=) c.3767C= (p.Ala1256=) c.4133+725C= (n.4133+725C=) c.4130C= (p.Ala1377=) c.3431C= (p.Ala1144=) c.4178C= (p.Ala1393=) | dbSNP |