| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387652A>G | CA254515 | KCNJ11 | c.212T>C (p.Leu71Pro) c.179T>C (p.Leu60Pro) c.440T>C (p.Leu147Pro) c.457T>C n.598T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387652A= | CA1955119346 | KCNJ11 | c.212T= (p.Leu71=) c.179T= (p.Leu60=) c.440T= (p.Leu147=) c.457T= n.598T= | dbSNP |