| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148828812C>G | CA159195 | EZH2 | n.701G>C c.436G>C (p.Asp146His) n.568G>C c.226G>C (p.Asp76His) c.553G>C (p.Asp185His) c.526G>C (p.Asp176His) c.*297G>C (n.*297G>C) n.684G>C c.577G>C (p.Asp193His) c.550G>C (p.Asp184His) c.529G>C (p.Asp177His) c.487G>C (p.Asp163His) c.460G>C (p.Asp154His) c.454G>C (p.Asp152His) c.433G>C (p.Asp145His) c.409G>C (p.Asp137His) n.3192G>C n.3190G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.148828812C= | CA1751439445 | EZH2 | n.701G= c.436G= (p.Asp146=) n.568G= c.226G= (p.Asp76=) c.553G= (p.Asp185=) c.526G= (p.Asp176=) c.*297G= (n.*297G=) n.684G= c.577G= (p.Asp193=) c.550G= (p.Asp184=) c.529G= (p.Asp177=) c.487G= (p.Asp163=) c.460G= (p.Asp154=) c.454G= (p.Asp152=) c.433G= (p.Asp145=) c.409G= (p.Asp137=) n.3192G= n.3190G= | dbSNP |