| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3758913G>A | CA271386 | CREBBP | c.3310C>T (p.Gln1104Ter) c.3196C>T (p.Gln1066Ter) c.1915C>T (p.Gln639Ter) c.3265C>T (p.Gln1089Ter) c.2893C>T (p.Gln965Ter) c.3256C>T (p.Gln1086Ter) c.2557C>T (p.Gln853Ter) c.3304C>T (p.Gln1102Ter) | ClinVar dbSNP COSMIC |
| 16 | g.3758913G= | CA2202944195 | CREBBP | c.3310C= (p.Gln1104=) c.3196C= (p.Gln1066=) c.1915C= (p.Gln639=) c.3265C= (p.Gln1089=) c.2893C= (p.Gln965=) c.3256C= (p.Gln1086=) c.2557C= (p.Gln853=) c.3304C= (p.Gln1102=) | dbSNP |