| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.58273470_58273483dup | CA773505924 | MPO | n.888_901dup c.680_693dup (n.680_693dup) n.595_608dup c.1555_1568dup (p.Arg524TrpfsTer?) c.13_26dup (p.Arg10TrpfsTer?) c.1741_1754dup (p.Arg586TrpfsTer?) c.1270_1283dup (p.Arg429TrpfsTer?) c.*104_*117dup (n.*104_*117dup) | dbSNP |
| 17 | g.58273470_58273483del | CA212809 | MPO | n.888_901del c.680_693del (n.680_693del) n.595_608del c.1555_1568del (p.Met519ProfsTer21) c.13_26del (p.Met5ProfsTer21) c.1741_1754del (p.Met581ProfsTer21) c.1270_1283del (p.Met424ProfsTer21) c.*104_*117del (n.*104_*117del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |