| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186252077G>A | CA121829 | KLKB1 | c.1205G>A (p.Trp402Ter) n.634G>A n.1266G>A c.1348G>A c.1091G>A (p.Trp364Ter) c.1238G>A (p.Trp413Ter) c.1124G>A (p.Trp375Ter) c.599G>A (p.Trp200Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186252077G= | CA1519922509 | KLKB1 | c.1205G= (p.Trp402=) n.634G= n.1266G= c.1348G= c.1091G= (p.Trp364=) c.1238G= (p.Trp413=) c.1124G= (p.Trp375=) c.599G= (p.Trp200=) | dbSNP |