| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186236903del | CA442640384 | KLKB1 | c.451del (p.Ser151HisfsTer18) c.337del (p.Ser113HisfsTer18) n.481del c.594del c.-187del (n.-187del) | dbSNP gnomAD v2 COSMIC COSMIC |
| 4 | g.186236903dup | CA3163049 | KLKB1 | c.451dup (p.Ser151PhefsTer?) c.337dup (p.Ser113PhefsTer?) n.481dup c.594dup c.-187dup (n.-187dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |