| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160041938G>A | CA118808 | KCNJ10 | c.567C>T n.95-2590C>T c.487+108C>T (n.487+108C>T) c.595C>T (p.Arg199Ter) c.317C>T c.565C>T (p.Arg189Ter) c.20C>T n.358C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.160041938G= | CA1141581120 | KCNJ10 | c.567C= n.95-2590C= c.487+108C= (n.487+108C=) c.595C= (p.Arg199=) c.317C= c.565C= (p.Arg189=) c.20C= n.358C= | dbSNP |