| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148811696C>A | CA369713172 | EZH2 | n.3776G>T c.*938G>T (n.*938G>T) c.*772G>T (n.*772G>T) n.3595G>T n.2767G>T n.2192G>T n.2254G>T c.1876G>T (p.Val626Leu) c.1744G>T (p.Val582Leu) c.1861G>T (p.Val621Leu) n.128G>T c.1708G>T (p.Val570Leu) c.1834G>T (p.Val612Leu) c.*1866G>T (n.*1866G>T) c.1885G>T (p.Val629Leu) c.1858G>T (p.Val620Leu) c.1732G>T (p.Val578Leu) c.1900G>T (p.Val634Leu) c.1873G>T (p.Val625Leu) c.1852G>T (p.Val618Leu) c.1849G>T (p.Val617Leu) c.1810G>T (p.Val604Leu) c.1783G>T (p.Val595Leu) c.1777G>T (p.Val593Leu) c.1774G>T (p.Val592Leu) c.1768G>T (p.Val590Leu) c.1759G>T (p.Val587Leu) c.1756G>T (p.Val586Leu) c.1642G>T (p.Val548Leu) c.1549G>T (p.Val517Leu) n.515+6611C>A n.722+6611C>A c.1837G>T (p.Val613Leu) c.1534G>T (p.Val512Leu) c.1762G>T (p.Val588Leu) n.4250G>T n.4906G>T n.5366G>T | dbSNP |
| 7 | g.148811696C>G | CA369713173 | EZH2 | n.3776G>C c.*938G>C (n.*938G>C) c.*772G>C (n.*772G>C) n.3595G>C n.2767G>C n.2192G>C n.2254G>C c.1876G>C (p.Val626Leu) c.1744G>C (p.Val582Leu) c.1861G>C (p.Val621Leu) n.128G>C c.1708G>C (p.Val570Leu) c.1834G>C (p.Val612Leu) c.*1866G>C (n.*1866G>C) c.1885G>C (p.Val629Leu) c.1858G>C (p.Val620Leu) c.1732G>C (p.Val578Leu) c.1900G>C (p.Val634Leu) c.1873G>C (p.Val625Leu) c.1852G>C (p.Val618Leu) c.1849G>C (p.Val617Leu) c.1810G>C (p.Val604Leu) c.1783G>C (p.Val595Leu) c.1777G>C (p.Val593Leu) c.1774G>C (p.Val592Leu) c.1768G>C (p.Val590Leu) c.1759G>C (p.Val587Leu) c.1756G>C (p.Val586Leu) c.1642G>C (p.Val548Leu) c.1549G>C (p.Val517Leu) n.515+6611C>G n.722+6611C>G c.1837G>C (p.Val613Leu) c.1534G>C (p.Val512Leu) c.1762G>C (p.Val588Leu) n.4250G>C n.4906G>C n.5366G>C | dbSNP gnomAD v4 |
| 7 | g.148811696C>T | CA271506 | EZH2 | n.3776G>A c.*938G>A (n.*938G>A) c.*772G>A (n.*772G>A) n.3595G>A n.2767G>A n.2192G>A n.2254G>A c.1876G>A (p.Val626Met) c.1744G>A (p.Val582Met) c.1861G>A (p.Val621Met) n.128G>A c.1708G>A (p.Val570Met) c.1834G>A (p.Val612Met) c.*1866G>A (n.*1866G>A) c.1885G>A (p.Val629Met) c.1858G>A (p.Val620Met) c.1732G>A (p.Val578Met) c.1900G>A (p.Val634Met) c.1873G>A (p.Val625Met) c.1852G>A (p.Val618Met) c.1849G>A (p.Val617Met) c.1810G>A (p.Val604Met) c.1783G>A (p.Val595Met) c.1777G>A (p.Val593Met) c.1774G>A (p.Val592Met) c.1768G>A (p.Val590Met) c.1759G>A (p.Val587Met) c.1756G>A (p.Val586Met) c.1642G>A (p.Val548Met) c.1549G>A (p.Val517Met) n.515+6611C>T n.722+6611C>T c.1837G>A (p.Val613Met) c.1534G>A (p.Val512Met) c.1762G>A (p.Val588Met) n.4250G>A n.4906G>A n.5366G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |