Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.4912601T>C | CA341286 | KCNA1 | c.1223T>C (p.Val408Ala) n.105+2129T>C c.1061T>C (p.Val354Ala) c.76+335T>C n.96+2129T>C | ClinVar dbSNP |
12 | g.4912601T>A | CA383456301 | KCNA1 | c.1223T>A (p.Val408Glu) n.105+2129T>A c.1061T>A (p.Val354Glu) c.76+335T>A n.96+2129T>A | dbSNP |