| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387091C>T | CA341712 | KCNJ11 | c.740G>A (p.Gly247Asp) c.1001G>A (p.Gly334Asp) n.1159G>A | ClinVar dbSNP |
| 11 | g.17387091C>A | CA379769450 | KCNJ11 | c.740G>T (p.Gly247Val) c.1001G>T (p.Gly334Val) n.1159G>T | ClinVar dbSNP |
| 11 | g.17387091C= | CA1955119118 | KCNJ11 | c.740G= (p.Gly247=) c.1001G= (p.Gly334=) n.1159G= | dbSNP |