| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40396207A>T | CA343107 | PRX | c.2145T>A (p.Cys715Ter) c.1728T>A (p.Cys576Ter) c.2430T>A (p.Cys810Ter) c.2020T>A c.2006T>A c.2107T>A c.2032T>A c.*2350T>A (n.*2350T>A) c.2043T>A (p.Cys681Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396207A= | CA2335961519 | PRX | c.2145T= (p.Cys715=) c.1728T= (p.Cys576=) c.2430T= (p.Cys810=) c.2020T= c.2006T= c.2107T= c.2032T= c.*2350T= (n.*2350T=) c.2043T= (p.Cys681=) | dbSNP |