| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34370503C>G | CA117922 | KCNE2 | c.25C>G (p.Gln9Glu) n.818G>C n.939G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.34370503C>T | CA410196117 | KCNE2 | c.25C>T (p.Gln9Ter) n.818G>A n.939G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.34370503C= | CA2387099269 | KCNE2 | c.25C= (p.Gln9=) n.818G= n.939G= | dbSNP |