| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186236880G>A | CA121835 | KLKB1 | c.428G>A (p.Ser143Asn) c.314G>A (p.Ser105Asn) n.458G>A c.571G>A c.-210G>A (n.-210G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186236880G>C | CA112111154 | KLKB1 | c.428G>C (p.Ser143Thr) c.314G>C (p.Ser105Thr) n.458G>C c.571G>C c.-210G>C (n.-210G>C) | dbSNP |