| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81935110C>G | CA401539092 | PYCR1 | c.356G>C (p.Arg119Pro) c.437G>C (p.Arg146Pro) c.173G>C (p.Arg58Pro) c.266G>C (p.Arg89Pro) c.317G>C (p.Arg106Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81935110C>T | CA122956 | PYCR1 | c.356G>A (p.Arg119His) c.437G>A (p.Arg146His) c.173G>A (p.Arg58His) c.266G>A (p.Arg89His) c.317G>A (p.Arg106His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |