| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128839709C>T | CA120158 | KCNJ1 | c.535G>A (p.Ala179Thr) c.592G>A (p.Ala198Thr) c.586G>A (p.Ala196Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.128839709C>A | CA230628532 | KCNJ1 | c.535G>T (p.Ala179Ser) c.592G>T (p.Ala198Ser) c.586G>T (p.Ala196Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |