| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3740454G>C | CA394565314 | CREBBP | c.4078C>G (p.Arg1360Gly) c.3964C>G (p.Arg1322Gly) c.2713C>G (p.Arg905Gly) n.542C>G c.384C>G n.160C>G n.3015C>G c.4033C>G (p.Arg1345Gly) c.3661C>G (p.Arg1221Gly) c.4024C>G (p.Arg1342Gly) c.3325C>G (p.Arg1109Gly) c.4072C>G (p.Arg1358Gly) | dbSNP |
| 16 | g.3740454G>T | CA493280357 | CREBBP | c.4078C>A (p.Arg1360=) c.3964C>A (p.Arg1322=) c.2713C>A (p.Arg905=) n.542C>A c.384C>A n.160C>A n.3015C>A c.4033C>A (p.Arg1345=) c.3661C>A (p.Arg1221=) c.4024C>A (p.Arg1342=) c.3325C>A (p.Arg1109=) c.4072C>A (p.Arg1358=) | dbSNP |
| 16 | g.3740454G>A | CA271405 | CREBBP | c.4078C>T (p.Arg1360Ter) c.3964C>T (p.Arg1322Ter) c.2713C>T (p.Arg905Ter) n.542C>T c.384C>T n.160C>T n.3015C>T c.4033C>T (p.Arg1345Ter) c.3661C>T (p.Arg1221Ter) c.4024C>T (p.Arg1342Ter) c.3325C>T (p.Arg1109Ter) c.4072C>T (p.Arg1358Ter) | ClinVar dbSNP COSMIC |