| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444700T>C | CA10654822 | KCNQ2 | c.649A>G (p.Thr217Ala) n.387A>G n.43A>G c.130A>G (p.Thr44Ala) c.307A>G (p.Thr103Ala) n.775A>G n.491A>G c.14A>G c.70A>G (p.Thr24Ala) n.474A>G c.580A>G (p.Thr194Ala) | ClinVar dbSNP |
| 20 | g.63444700T>G | CA409654721 | KCNQ2 | c.649A>C (p.Thr217Pro) n.387A>C n.43A>C c.130A>C (p.Thr44Pro) c.307A>C (p.Thr103Pro) n.775A>C n.491A>C c.14A>C c.70A>C (p.Thr24Pro) n.474A>C c.580A>C (p.Thr194Pro) | ClinVar dbSNP |