| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34370656T>C | CA117926 | KCNE2 | c.178T>C (p.Phe60Leu) n.665A>G n.786A>G | ClinVar dbSNP gnomAD v4 |
| 21 | g.34370656T>A | CA10013421 | KCNE2 | c.178T>A (p.Phe60Ile) n.665A>T n.786A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.34370656T= | CA2387099339 | KCNE2 | c.178T= (p.Phe60=) n.665A= n.786A= | dbSNP |