| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186209260A>G | CA273326 | CYP4V2,KLKB1 | c.1393A>G (p.Arg465Gly) n.628A>G n.6091A>G c.189A>G n.483A>G c.1390A>G (p.Arg464Gly) c.997A>G (p.Arg333Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186209260A= | CA1519891499 | CYP4V2,KLKB1 | c.1393A= (p.Arg465=) n.628A= n.6091A= c.189A= n.483A= c.1390A= (p.Arg464=) c.997A= (p.Arg333=) | dbSNP |