| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70175718G>T | CA145019 | KCNJ2 | c.679G>T (p.Val227Phe) | ClinVar dbSNP |
| 17 | g.70175718G>C | CA400861613 | KCNJ2 | c.679G>C (p.Val227Leu) | dbSNP gnomAD v4 |
| 17 | g.70175718G= | CA2272996661 | KCNJ2 | c.679G= (p.Val227=) | dbSNP |