| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.74457316C>T | CA199956 | KCNE3 | c.248G>A (p.Arg83His) c.380G>A (p.Arg127His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457316C>G | CA381973765 | KCNE3 | c.248G>C (p.Arg83Pro) c.380G>C (p.Arg127Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.74457316C= | CA1982893259 | KCNE3 | c.248G= (p.Arg83=) c.380G= (p.Arg127=) | dbSNP |