Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.74457268C>T | CA253524 | KCNE3 | c.296G>A (p.Arg99His) c.428G>A (p.Arg143His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74457268C= | CA1982893236 | KCNE3 | c.296G= (p.Arg99=) c.428G= (p.Arg143=) | dbSNP |
11 | g.74457268C>G | CA381973657 | KCNE3 | c.296G>C (p.Arg99Pro) c.428G>C (p.Arg143Pro) | dbSNP |