| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.58273540G>A | CA116396 | MPO | n.828C>T c.620C>T (n.620C>T) n.535C>T c.1495C>T (p.Arg499Cys) c.1681C>T (p.Arg561Cys) c.1210C>T (p.Arg404Cys) c.*44C>T (n.*44C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.58273540G>C | CA400370145 | MPO | n.828C>G c.620C>G (n.620C>G) n.535C>G c.1495C>G (p.Arg499Gly) c.1681C>G (p.Arg561Gly) c.1210C>G (p.Arg404Gly) c.*44C>G (n.*44C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273540G= | CA2267631302 | MPO | n.828C= c.620C= (n.620C=) n.535C= c.1495C= (p.Arg499=) c.1681C= (p.Arg561=) c.1210C= (p.Arg404=) c.*44C= (n.*44C=) | dbSNP |