| 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 |
| 4 | g.186252131G= | CA1519922539 | KLKB1 | c.1259G= (p.Gly420=) n.688G= n.1320G= c.1402G= c.1145G= (p.Gly382=) c.1292G= (p.Gly431=) c.1178G= (p.Gly393=) c.653G= (p.Gly218=) | dbSNP |
| 4 | g.186252131G>C | CA358951808 | KLKB1 | c.1259G>C (p.Gly420Ala) n.688G>C n.1320G>C c.1402G>C c.1145G>C (p.Gly382Ala) c.1292G>C (p.Gly431Ala) c.1178G>C (p.Gly393Ala) c.653G>C (p.Gly218Ala) | dbSNP gnomAD v4 |