| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.58280457C>T | CA400377132 | MPO | c.157G>A (p.Val53Ile) n.86G>A c.343G>A (p.Val115Ile) c.-38+148G>A (n.-38+148G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280457C>A | CA8671072 | MPO | c.157G>T (p.Val53Phe) n.86G>T c.343G>T (p.Val115Phe) c.-38+148G>T (n.-38+148G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |