| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.95411704G>C | CA118613 | PON2 | c.443C>G (p.Ala148Gly) c.407C>G (p.Ala136Gly) c.*308C>G (n.*308C>G) c.185C>G (p.Ala62Gly) c.513C>G (n.513C>G) c.*258C>G (n.*258C>G) c.506C>G (p.Ala169Gly) c.239C>G (p.Ala80Gly) c.233C>G (p.Ala78Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95411704G>T | CA368249654 | PON2 | c.443C>A (p.Ala148Glu) c.407C>A (p.Ala136Glu) c.*308C>A (n.*308C>A) c.185C>A (p.Ala62Glu) c.513C>A (n.513C>A) c.*258C>A (n.*258C>A) c.506C>A (p.Ala169Glu) c.239C>A (p.Ala80Glu) c.233C>A (p.Ala78Glu) | dbSNP gnomAD v4 |
| 7 | g.95411704G= | CA1727229007 | PON2 | c.443C= (p.Ala148=) c.407C= (p.Ala136=) c.*308C= (n.*308C=) c.185C= (p.Ala62=) c.513C= (n.513C=) c.*258C= (n.*258C=) c.506C= (p.Ala169=) c.239C= (p.Ala80=) c.233C= (p.Ala78=) | dbSNP dbSNP |