| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729681T>G | CA16620199 | CREBBP | c.5366A>C (p.Asn1789Thr) c.5252A>C (p.Asn1751Thr) c.5321A>C (p.Asn1774Thr) c.4949A>C (p.Asn1650Thr) c.5105A>C (p.Asn1702Thr) c.5312A>C (p.Asn1771Thr) c.4613A>C (p.Asn1538Thr) c.5360A>C (p.Asn1787Thr) | ClinVar dbSNP |
| 16 | g.3729681T>A | CA394557042 | CREBBP | c.5366A>T (p.Asn1789Ile) c.5252A>T (p.Asn1751Ile) c.5321A>T (p.Asn1774Ile) c.4949A>T (p.Asn1650Ile) c.5105A>T (p.Asn1702Ile) c.5312A>T (p.Asn1771Ile) c.4613A>T (p.Asn1538Ile) c.5360A>T (p.Asn1787Ile) | dbSNP |
| 16 | g.3729681T>C | CA394557043 | CREBBP | c.5366A>G (p.Asn1789Ser) c.5252A>G (p.Asn1751Ser) c.5321A>G (p.Asn1774Ser) c.4949A>G (p.Asn1650Ser) c.5105A>G (p.Asn1702Ser) c.5312A>G (p.Asn1771Ser) c.4613A>G (p.Asn1538Ser) c.5360A>G (p.Asn1787Ser) | ClinVar dbSNP |