| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128839644G>C | CA120152 | KCNJ1 | c.600C>G (p.Ser200Arg) c.657C>G (p.Ser219Arg) c.651C>G (p.Ser217Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839644G= | CA2008250694 | KCNJ1 | c.600C= (p.Ser200=) c.657C= (p.Ser219=) c.651C= (p.Ser217=) | dbSNP |
| 11 | g.128839644G>T | CA383244677 | KCNJ1 | c.600C>A (p.Ser200Arg) c.657C>A (p.Ser219Arg) c.651C>A (p.Ser217Arg) | ClinVar dbSNP gnomAD v4 |