| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.5314116C>A | CA9754395 | PROKR2 | c.254G>T (p.Arg85Leu) c.146G>T (p.Arg49Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.5314116C>T | CA259601 | PROKR2 | c.254G>A (p.Arg85His) c.146G>A (p.Arg49His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.5314116C= | CA2347441671 | PROKR2 | c.254G= (p.Arg85=) c.146G= (p.Arg49=) | dbSNP |