| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3740487G>A | CA271403 | CREBBP | c.4045C>T (p.Gln1349Ter) c.3931C>T (p.Gln1311Ter) c.2680C>T (p.Gln894Ter) n.509C>T c.351C>T n.127C>T n.2982C>T c.4000C>T (p.Gln1334Ter) c.3628C>T (p.Gln1210Ter) c.3991C>T (p.Gln1331Ter) c.3292C>T (p.Gln1098Ter) c.4039C>T (p.Gln1347Ter) | ClinVar dbSNP |
| 16 | g.3740487G>C | CA394565388 | CREBBP | c.4045C>G (p.Gln1349Glu) c.3931C>G (p.Gln1311Glu) c.2680C>G (p.Gln894Glu) n.509C>G c.351C>G n.127C>G n.2982C>G c.4000C>G (p.Gln1334Glu) c.3628C>G (p.Gln1210Glu) c.3991C>G (p.Gln1331Glu) c.3292C>G (p.Gln1098Glu) c.4039C>G (p.Gln1347Glu) | dbSNP |
| 16 | g.3740487G>T | CA394565389 | CREBBP | c.4045C>A (p.Gln1349Lys) c.3931C>A (p.Gln1311Lys) c.2680C>A (p.Gln894Lys) n.509C>A c.351C>A n.127C>A n.2982C>A c.4000C>A (p.Gln1334Lys) c.3628C>A (p.Gln1210Lys) c.3991C>A (p.Gln1331Lys) c.3292C>A (p.Gln1098Lys) c.4039C>A (p.Gln1347Lys) | dbSNP |