| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.58278036G>A | CA116387 | MPO | n.270C>T c.281C>T (p.Ala94Val) c.995C>T (p.Ala332Val) n.84C>T c.1181C>T (p.Ala394Val) c.710C>T (p.Ala237Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58278036G= | CA2267633380 | MPO | n.270C= c.281C= (p.Ala94=) c.995C= (p.Ala332=) n.84C= c.1181C= (p.Ala394=) c.710C= (p.Ala237=) | dbSNP dbSNP |
| 17 | g.58278036G>C | CA400373011 | MPO | n.270C>G c.281C>G (p.Ala94Gly) c.995C>G (p.Ala332Gly) n.84C>G c.1181C>G (p.Ala394Gly) c.710C>G (p.Ala237Gly) | dbSNP |