Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186236789C>T | CA121827 | KLKB1 | c.337C>T (p.Arg113Ter) c.223C>T (p.Arg75Ter) n.367C>T c.480C>T c.-301C>T (n.-301C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236789C>G | CA358944725 | KLKB1 | c.337C>G (p.Arg113Gly) c.223C>G (p.Arg75Gly) n.367C>G c.480C>G c.-301C>G (n.-301C>G) | dbSNP gnomAD v4 |
4 | g.186236789C= | CA1519902292 | KLKB1 | c.337C= (p.Arg113=) c.223C= (p.Arg75=) n.367C= c.480C= c.-301C= (n.-301C=) | dbSNP |