| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387284G>C | CA172346 | KCNJ11 | c.547C>G (p.Leu183Val) c.808C>G (p.Leu270Val) n.966C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387284G>T | CA5902243 | KCNJ11 | c.547C>A (p.Leu183Met) c.808C>A (p.Leu270Met) n.966C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387284G= | CA1955119194 | KCNJ11 | c.547C= (p.Leu183=) c.808C= (p.Leu270=) n.966C= | dbSNP |