| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16051724C>T | CA118914 | CLCNKB | c.1312C>T (p.Arg438Cys) c.*1054C>T (n.*1054C>T) n.927C>T n.2847C>T n.689C>T n.773C>T c.805C>T (p.Arg269Cys) c.931C>T (p.Arg311Cys) c.1153C>T (p.Arg385Cys) c.661C>T (p.Arg221Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.16051724C>A | CA623811 | CLCNKB | c.1312C>A (p.Arg438Ser) c.*1054C>A (n.*1054C>A) n.927C>A n.2847C>A n.689C>A n.773C>A c.805C>A (p.Arg269Ser) c.931C>A (p.Arg311Ser) c.1153C>A (p.Arg385Ser) c.661C>A (p.Arg221Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |