| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43338707del | CA160817 | MPL | c.378del (p.Phe126LeufsTer5) c.357del (p.Phe119LeufsTer5) n.378del c.549del (p.Phe183LeufsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43338707dup | CA1165576104 | MPL | c.378dup (p.Val127CysfsTer?) c.357dup (p.Val120CysfsTer?) n.378dup c.549dup (p.Val184CysfsTer?) | dbSNP |