| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186209215C>T | CA343717 | CYP4V2,KLKB1 | c.1348C>T (p.Gln450Ter) n.583C>T n.6046C>T c.144C>T n.438C>T c.1345C>T (p.Gln449Ter) c.952C>T (p.Gln318Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186209215C= | CA1519891472 | CYP4V2,KLKB1 | c.1348C= (p.Gln450=) n.583C= n.6046C= c.144C= n.438C= c.1345C= (p.Gln449=) c.952C= (p.Gln318=) | dbSNP |
| 4 | g.186209215C>G | CA358950604 | CYP4V2,KLKB1 | c.1348C>G (p.Gln450Glu) n.583C>G n.6046C>G c.144C>G n.438C>G c.1345C>G (p.Gln449Glu) c.952C>G (p.Gln318Glu) | dbSNP gnomAD v4 |