| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128840064G>C | CA120150 | KCNJ1 | c.180C>G (p.Tyr60Ter) c.237C>G (p.Tyr79Ter) n.525C>G c.231C>G (p.Tyr77Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.128840064G>A | CA6357557 | KCNJ1 | c.180C>T (p.Tyr60=) c.237C>T (p.Tyr79=) n.525C>T c.231C>T (p.Tyr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |