| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74061138T>C | CA455886544 | ELN,ELN-AS1 | c.1971T>C (p.Tyr657=) c.1785T>C (p.Tyr595=) c.1884T>C (p.Tyr628=) c.1542T>C (p.Tyr514=) c.1800T>C (p.Tyr600=) c.1377T>C (p.Tyr459=) c.1803T>C (p.Tyr601=) c.1698T>C (p.Tyr566=) c.1728T>C (p.Tyr576=) c.1641T>C (p.Tyr547=) c.1713T>C (p.Tyr571=) c.1743T>C (p.Tyr581=) c.1755T>C (p.Tyr585=) c.1518T>C (p.Tyr506=) c.1749T>C (p.Tyr583=) c.1770T>C (p.Tyr590=) c.1764T>C (p.Tyr588=) c.1758T>C (p.Tyr586=) c.1746T>C (p.Tyr582=) c.1734T>C (p.Tyr578=) c.1719T>C (p.Tyr573=) c.1689T>C (p.Tyr563=) c.1701T>C (p.Tyr567=) n.75+1072A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74061138T>A | CA281478 | ELN,ELN-AS1 | c.1971T>A (p.Tyr657Ter) c.1785T>A (p.Tyr595Ter) c.1884T>A (p.Tyr628Ter) c.1542T>A (p.Tyr514Ter) c.1800T>A (p.Tyr600Ter) c.1377T>A (p.Tyr459Ter) c.1803T>A (p.Tyr601Ter) c.1698T>A (p.Tyr566Ter) c.1728T>A (p.Tyr576Ter) c.1641T>A (p.Tyr547Ter) c.1713T>A (p.Tyr571Ter) c.1743T>A (p.Tyr581Ter) c.1755T>A (p.Tyr585Ter) c.1518T>A (p.Tyr506Ter) c.1749T>A (p.Tyr583Ter) c.1770T>A (p.Tyr590Ter) c.1764T>A (p.Tyr588Ter) c.1758T>A (p.Tyr586Ter) c.1746T>A (p.Tyr582Ter) c.1734T>A (p.Tyr578Ter) c.1719T>A (p.Tyr573Ter) c.1689T>A (p.Tyr563Ter) c.1701T>A (p.Tyr567Ter) n.75+1072A>T | ClinVar dbSNP |