| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387571G>C | CA172330 | KCNJ11 | c.260C>G (p.Ala87Gly) c.521C>G (p.Ala174Gly) n.679C>G | ClinVar dbSNP |
| 11 | g.17387571G>T | CA379773062 | KCNJ11 | c.260C>A (p.Ala87Asp) c.521C>A (p.Ala174Asp) n.679C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387571G= | CA1955119316 | KCNJ11 | c.260C= (p.Ala87=) c.521C= (p.Ala174=) n.679C= | dbSNP |