| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186210586G>A | CA339956 | CYP4V2,KLKB1 | c.1523G>A (p.Arg508His) n.758G>A n.6221G>A c.201+1314G>A n.613G>A c.1520G>A (p.Arg507His) c.1127G>A (p.Arg376His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186210586G>C | CA358951166 | CYP4V2,KLKB1 | c.1523G>C (p.Arg508Pro) n.758G>C n.6221G>C c.201+1314G>C n.613G>C c.1520G>C (p.Arg507Pro) c.1127G>C (p.Arg376Pro) | dbSNP |