| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387490C>A | CA341724 | KCNJ11 | c.341G>T (p.Arg114Leu) c.602G>T (p.Arg201Leu) n.760G>T | ClinVar dbSNP |
| 11 | g.17387490C>T | CA119821 | KCNJ11 | c.341G>A (p.Arg114His) c.602G>A (p.Arg201His) n.760G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387490C= | CA1955119278 | KCNJ11 | c.341G= (p.Arg114=) c.602G= (p.Arg201=) n.760G= | dbSNP |
| 11 | g.17387490C>G | CA379772284 | KCNJ11 | c.341G>C (p.Arg114Pro) c.602G>C (p.Arg201Pro) n.760G>C | dbSNP gnomAD v4 |