| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150959701C>T | CA008314 | KCNH2 | n.1176G>A c.343G>A (p.Val115Met) c.166G>A (p.Val56Met) n.566G>A c.43G>A (p.Val15Met) c.193G>A (p.Val65Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.150959701C= | CA1752420075 | KCNH2 | n.1176G= c.343G= (p.Val115=) c.166G= (p.Val56=) n.566G= c.43G= (p.Val15=) c.193G= (p.Val65=) | dbSNP |