Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.50820217C>T | CA407023732 | KLK1 | c.433G>A (p.Glu145Lys) c.*1242G>A (n.*1242G>A) n.472G>A n.633G>A c.127G>A (p.Glu43Lys) | dbSNP |
19 | g.50820217C>G | CA9603771 | KLK1 | c.433G>C (p.Glu145Gln) c.*1242G>C (n.*1242G>C) n.472G>C n.633G>C c.127G>C (p.Glu43Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |