| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186252131G>T | CA358951806 | KLKB1 | c.1259G>T (p.Gly420Val) n.688G>T n.1320G>T c.1402G>T c.1145G>T (p.Gly382Val) c.1292G>T (p.Gly431Val) c.1178G>T (p.Gly393Val) c.653G>T (p.Gly218Val) | dbSNP gnomAD v4 |
| 4 | g.186252131G>A | CA3163339 | KLKB1 | c.1259G>A (p.Gly420Glu) n.688G>A n.1320G>A c.1402G>A c.1145G>A (p.Gly382Glu) c.1292G>A (p.Gly431Glu) c.1178G>A (p.Gly393Glu) c.653G>A (p.Gly218Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |