| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3740510C>G | CA271401 | CREBBP | c.4022G>C (p.Arg1341Pro) c.3908G>C (p.Arg1303Pro) c.2657G>C (p.Arg886Pro) n.486G>C c.328G>C n.104G>C n.2959G>C c.3977G>C (p.Arg1326Pro) c.3605G>C (p.Arg1202Pro) c.3968G>C (p.Arg1323Pro) c.3269G>C (p.Arg1090Pro) c.4016G>C (p.Arg1339Pro) | ClinVar dbSNP |
| 16 | g.3740510C>T | CA394565438 | CREBBP | c.4022G>A (p.Arg1341Gln) c.3908G>A (p.Arg1303Gln) c.2657G>A (p.Arg886Gln) n.486G>A c.328G>A n.104G>A n.2959G>A c.3977G>A (p.Arg1326Gln) c.3605G>A (p.Arg1202Gln) c.3968G>A (p.Arg1323Gln) c.3269G>A (p.Arg1090Gln) c.4016G>A (p.Arg1339Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3740510C= | CA2202940904 | CREBBP | c.4022G= (p.Arg1341=) c.3908G= (p.Arg1303=) c.2657G= (p.Arg886=) n.486G= c.328G= n.104G= n.2959G= c.3977G= (p.Arg1326=) c.3605G= (p.Arg1202=) c.3968G= (p.Arg1323=) c.3269G= (p.Arg1090=) c.4016G= (p.Arg1339=) | dbSNP |