| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148829754T>C | CA347376 | EZH2 | n.606A>G c.341A>G (p.Tyr114Cys) n.473A>G c.131A>G (p.Tyr44Cys) c.458A>G (p.Tyr153Cys) c.431A>G (p.Tyr144Cys) c.*202A>G (n.*202A>G) n.589A>G c.482A>G (p.Tyr161Cys) c.455A>G (p.Tyr152Cys) c.434A>G (p.Tyr145Cys) c.392A>G (p.Tyr131Cys) c.365A>G (p.Tyr122Cys) c.359A>G (p.Tyr120Cys) c.338A>G (p.Tyr113Cys) c.314A>G (p.Tyr105Cys) n.3097A>G n.3095A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.148829754T= | CA1751440312 | EZH2 | n.606A= c.341A= (p.Tyr114=) n.473A= c.131A= (p.Tyr44=) c.458A= (p.Tyr153=) c.431A= (p.Tyr144=) c.*202A= (n.*202A=) n.589A= c.482A= (p.Tyr161=) c.455A= (p.Tyr152=) c.434A= (p.Tyr145=) c.392A= (p.Tyr131=) c.365A= (p.Tyr122=) c.359A= (p.Tyr120=) c.338A= (p.Tyr113=) c.314A= (p.Tyr105=) n.3097A= n.3095A= | dbSNP |