| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32428404C>A | CA236144 | ASXL1 | c.453C>A (p.Ser151Arg) n.472C>A c.369C>A (p.Ser123Arg) c.*292C>A (n.*292C>A) n.157C>A n.277C>A c.423C>A (p.Ser141Arg) c.438C>A (p.Ser146Arg) c.450C>A (p.Ser150Arg) c.717C>A (p.Ser239Arg) c.714C>A (p.Ser238Arg) c.633C>A (p.Ser211Arg) c.432C>A (p.Ser144Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.32428404C= | CA2360290029 | ASXL1 | c.453C= (p.Ser151=) n.472C= c.369C= (p.Ser123=) c.*292C= (n.*292C=) n.157C= n.277C= c.423C= (p.Ser141=) c.438C= (p.Ser146=) c.450C= (p.Ser150=) c.717C= (p.Ser239=) c.714C= (p.Ser238=) c.633C= (p.Ser211=) c.432C= (p.Ser144=) | dbSNP |