| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.5302677A>C | CA259599 | PROKR2 | c.518T>G (p.Leu173Arg) c.410T>G (p.Leu137Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.5302677A>T | CA408167519 | PROKR2 | c.518T>A (p.Leu173Gln) c.410T>A (p.Leu137Gln) | dbSNP |
| 20 | g.5302677A= | CA2347436540 | PROKR2 | c.518T= (p.Leu173=) c.410T= (p.Leu137=) | dbSNP |