| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.95405463G>C | CA118611 | PON2 | c.932C>G (p.Ser311Cys) c.896C>G (p.Ser299Cys) c.*797C>G (n.*797C>G) c.*219C>G (n.*219C>G) c.514C>G c.995C>G (p.Ser332Cys) c.728C>G (p.Ser243Cys) c.722C>G (p.Ser241Cys) c.674C>G (p.Ser225Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95405463G>T | CA368247488 | PON2 | c.932C>A (p.Ser311Tyr) c.896C>A (p.Ser299Tyr) c.*797C>A (n.*797C>A) c.*219C>A (n.*219C>A) c.514C>A c.995C>A (p.Ser332Tyr) c.728C>A (p.Ser243Tyr) c.722C>A (p.Ser241Tyr) c.674C>A (p.Ser225Tyr) | dbSNP |