| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128839982T>C | CA216044 | KCNJ1 | c.262A>G (p.Lys88Glu) c.319A>G (p.Lys107Glu) c.313A>G (p.Lys105Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839982T>A | CA16043357 | KCNJ1 | c.262A>T (p.Lys88Ter) c.319A>T (p.Lys107Ter) c.313A>T (p.Lys105Ter) | ClinVar dbSNP |