| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74060184C>T | CA281027 | ELN,ELN-AS1 | c.1708C>T (p.Arg570Ter) c.1621C>T (p.Arg541Ter) c.1378C>T (p.Arg460Ter) c.1636C>T (p.Arg546Ter) c.1213C>T (p.Arg405Ter) c.1639C>T (p.Arg547Ter) c.1534C>T (p.Arg512Ter) c.1564C>T (p.Arg522Ter) c.1477+137C>T (n.1477+137C>T) c.1549C>T (p.Arg517Ter) c.1579C>T (p.Arg527Ter) c.1591C>T (p.Arg531Ter) c.1354C>T (p.Arg452Ter) c.1585C>T (p.Arg529Ter) c.1606C>T (p.Arg536Ter) c.1600C>T (p.Arg534Ter) c.1594C>T (p.Arg532Ter) c.1582C>T (p.Arg528Ter) c.1570C>T (p.Arg524Ter) c.1555C>T (p.Arg519Ter) c.1525C>T (p.Arg509Ter) c.1537C>T (p.Arg513Ter) n.76-152G>A | ClinVar dbSNP |
| 7 | g.74060184C>G | CA4293130 | ELN,ELN-AS1 | c.1708C>G (p.Arg570Gly) c.1621C>G (p.Arg541Gly) c.1378C>G (p.Arg460Gly) c.1636C>G (p.Arg546Gly) c.1213C>G (p.Arg405Gly) c.1639C>G (p.Arg547Gly) c.1534C>G (p.Arg512Gly) c.1564C>G (p.Arg522Gly) c.1477+137C>G (n.1477+137C>G) c.1549C>G (p.Arg517Gly) c.1579C>G (p.Arg527Gly) c.1591C>G (p.Arg531Gly) c.1354C>G (p.Arg452Gly) c.1585C>G (p.Arg529Gly) c.1606C>G (p.Arg536Gly) c.1600C>G (p.Arg534Gly) c.1594C>G (p.Arg532Gly) c.1582C>G (p.Arg528Gly) c.1570C>G (p.Arg524Gly) c.1555C>G (p.Arg519Gly) c.1525C>G (p.Arg509Gly) c.1537C>G (p.Arg513Gly) n.76-152G>C | dbSNP ExAC gnomAD v2 |