| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40397250G>A | CA117079 | PRX | c.1102C>T (p.Arg368Ter) c.685C>T (p.Arg229Ter) c.1387C>T (p.Arg463Ter) c.977C>T c.963C>T c.1064C>T c.989C>T c.*1307C>T (n.*1307C>T) c.1000C>T (p.Arg334Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.40397250G>C | CA9444325 | PRX | c.1102C>G (p.Arg368Gly) c.685C>G (p.Arg229Gly) c.1387C>G (p.Arg463Gly) c.977C>G c.963C>G c.1064C>G c.989C>G c.*1307C>G (n.*1307C>G) c.1000C>G (p.Arg334Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40397250G= | CA2335962065 | PRX | c.1102C= (p.Arg368=) c.685C= (p.Arg229=) c.1387C= (p.Arg463=) c.977C= c.963C= c.1064C= c.989C= c.*1307C= (n.*1307C=) c.1000C= (p.Arg334=) | dbSNP |