| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387594G>C | CA172328 | KCNJ11 | c.237C>G (p.Cys79Trp) c.498C>G (p.Cys166Trp) n.656C>G | ClinVar dbSNP |
| 11 | g.17387594G>T | CA379773220 | KCNJ11 | c.237C>A (p.Cys79Ter) c.498C>A (p.Cys166Ter) n.656C>A | ClinVar dbSNP |
| 11 | g.17387594G= | CA1955119323 | KCNJ11 | c.237C= (p.Cys79=) c.498C= (p.Cys166=) n.656C= | dbSNP |