| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40397766G>A | CA117082 | PRX | c.586C>T (p.Arg196Ter) c.169C>T (p.Arg57Ter) c.871C>T (p.Arg291Ter) c.461C>T c.447C>T c.548C>T c.473C>T c.*791C>T (n.*791C>T) c.484C>T (p.Arg162Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40397766G>C | CA405900098 | PRX | c.586C>G (p.Arg196Gly) c.169C>G (p.Arg57Gly) c.871C>G (p.Arg291Gly) c.461C>G c.447C>G c.548C>G c.473C>G c.*791C>G (n.*791C>G) c.484C>G (p.Arg162Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40397766G>T | CA9444424 | PRX | c.586C>A (p.Arg196=) c.169C>A (p.Arg57=) c.871C>A (p.Arg291=) c.461C>A c.447C>A c.548C>A c.473C>A c.*791C>A (n.*791C>A) c.484C>A (p.Arg162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |