| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186236819G>A | CA121833 | KLKB1 | c.367G>A (p.Gly123Arg) c.253G>A (p.Gly85Arg) n.397G>A c.510G>A c.-271G>A (n.-271G>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.186236819G>T | CA3163032 | KLKB1 | c.367G>T (p.Gly123Ter) c.253G>T (p.Gly85Ter) n.397G>T c.510G>T c.-271G>T (n.-271G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |