| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.110603893C>T | CA199675 | KCNA2 | c.890G>A (p.Arg297Gln) n.361+1498G>A c.128G>A (p.Arg43Gln) n.658G>A c.308G>A (p.Arg103Gln) n.998G>A n.459+1498G>A c.524G>A (p.Arg175Gln) | ClinVar dbSNP gnomAD v4 |
| 1 | g.110603893C= | CA1188577468 | KCNA2 | c.890G= (p.Arg297=) n.361+1498G= c.128G= (p.Arg43=) n.658G= c.308G= (p.Arg103=) n.998G= n.459+1498G= c.524G= (p.Arg175=) | dbSNP |