Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34370671G>C | CA329750 | KCNE2 | c.193G>C (p.Val65Leu) n.650C>G n.771C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34370671G>A | CA329748 | KCNE2 | c.193G>A (p.Val65Met) n.650C>T n.771C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34370671G= | CA2387099347 | KCNE2 | c.193G= (p.Val65=) n.650C= n.771C= | dbSNP |