| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148828815C>G | CA16618395 | EZH2 | n.698G>C c.433G>C (p.Asp145His) n.565G>C c.223G>C (p.Asp75His) c.550G>C (p.Asp184His) c.523G>C (p.Asp175His) c.*294G>C (n.*294G>C) n.681G>C c.574G>C (p.Asp192His) c.547G>C (p.Asp183His) c.526G>C (p.Asp176His) c.484G>C (p.Asp162His) c.457G>C (p.Asp153His) c.451G>C (p.Asp151His) c.430G>C (p.Asp144His) c.406G>C (p.Asp136His) n.3189G>C n.3187G>C | ClinVar dbSNP |
| 7 | g.148828815C>T | CA369720474 | EZH2 | n.698G>A c.433G>A (p.Asp145Asn) n.565G>A c.223G>A (p.Asp75Asn) c.550G>A (p.Asp184Asn) c.523G>A (p.Asp175Asn) c.*294G>A (n.*294G>A) n.681G>A c.574G>A (p.Asp192Asn) c.547G>A (p.Asp183Asn) c.526G>A (p.Asp176Asn) c.484G>A (p.Asp162Asn) c.457G>A (p.Asp153Asn) c.451G>A (p.Asp151Asn) c.430G>A (p.Asp144Asn) c.406G>A (p.Asp136Asn) n.3189G>A n.3187G>A | dbSNP |
| 7 | g.148828815C= | CA1751439463 | EZH2 | n.698G= c.433G= (p.Asp145=) n.565G= c.223G= (p.Asp75=) c.550G= (p.Asp184=) c.523G= (p.Asp175=) c.*294G= (n.*294G=) n.681G= c.574G= (p.Asp192=) c.547G= (p.Asp183=) c.526G= (p.Asp176=) c.484G= (p.Asp162=) c.457G= (p.Asp153=) c.451G= (p.Asp151=) c.430G= (p.Asp144=) c.406G= (p.Asp136=) n.3189G= n.3187G= | dbSNP |