| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.58273534C>A | CA400370119 | MPO | n.834G>T c.626G>T (n.626G>T) n.541G>T c.1501G>T (p.Gly501Cys) c.1687G>T (p.Gly563Cys) c.1216G>T (p.Gly406Cys) c.*50G>T (n.*50G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273534C>T | CA116393 | MPO | n.834G>A c.626G>A (n.626G>A) n.541G>A c.1501G>A (p.Gly501Ser) c.1687G>A (p.Gly563Ser) c.1216G>A (p.Gly406Ser) c.*50G>A (n.*50G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273534C= | CA2267631299 | MPO | n.834G= c.626G= (n.626G=) n.541G= c.1501G= (p.Gly501=) c.1687G= (p.Gly563=) c.1216G= (p.Gly406=) c.*50G= (n.*50G=) | dbSNP |