| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3749631C>T | CA254815 | CREBBP | c.3832G>A (p.Glu1278Lys) n.53G>A c.3718G>A (p.Glu1240Lys) c.2467G>A (p.Glu823Lys) c.138G>A c.3787G>A (p.Glu1263Lys) c.3415G>A (p.Glu1139Lys) c.3778G>A (p.Glu1260Lys) c.3079G>A (p.Glu1027Lys) c.3826G>A (p.Glu1276Lys) | ClinVar dbSNP COSMIC |
| 16 | g.3749631C>G | CA394567311 | CREBBP | c.3832G>C (p.Glu1278Gln) n.53G>C c.3718G>C (p.Glu1240Gln) c.2467G>C (p.Glu823Gln) c.138G>C c.3787G>C (p.Glu1263Gln) c.3415G>C (p.Glu1139Gln) c.3778G>C (p.Glu1260Gln) c.3079G>C (p.Glu1027Gln) c.3826G>C (p.Glu1276Gln) | ClinVar dbSNP |
| 16 | g.3749631C= | CA2202934717 | CREBBP | c.3832G= (p.Glu1278=) n.53G= c.3718G= (p.Glu1240=) c.2467G= (p.Glu823=) c.138G= c.3787G= (p.Glu1263=) c.3415G= (p.Glu1139=) c.3778G= (p.Glu1260=) c.3079G= (p.Glu1027=) c.3826G= (p.Glu1276=) | dbSNP dbSNP |