| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128839660G>A | CA120154 | KCNJ1 | c.584C>T (p.Ala195Val) c.641C>T (p.Ala214Val) c.635C>T (p.Ala212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839660G>C | CA6357490 | KCNJ1 | c.584C>G (p.Ala195Gly) c.641C>G (p.Ala214Gly) c.635C>G (p.Ala212Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |