| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63414927C>T | CA409646171 | KCNQ2 | c.1447G>A (p.Ala483Thr) c.1501G>A (p.Ala501Thr) c.898G>A (p.Ala300Thr) c.1411G>A (p.Ala471Thr) c.1069G>A (p.Ala357Thr) c.1417G>A (p.Ala473Thr) c.1381G>A (p.Ala461Thr) c.561G>A c.109G>A (p.Ala37Thr) c.1471G>A (p.Ala491Thr) c.1375G>A (p.Ala459Thr) c.982G>A (p.Ala328Thr) c.1378G>A (p.Ala460Thr) c.409G>A (p.Ala137Thr) | dbSNP |
| 20 | g.63414927C>G | CA10654788 | KCNQ2 | c.1447G>C (p.Ala483Pro) c.1501G>C (p.Ala501Pro) c.898G>C (p.Ala300Pro) c.1411G>C (p.Ala471Pro) c.1069G>C (p.Ala357Pro) c.1417G>C (p.Ala473Pro) c.1381G>C (p.Ala461Pro) c.561G>C c.109G>C (p.Ala37Pro) c.1471G>C (p.Ala491Pro) c.1375G>C (p.Ala459Pro) c.982G>C (p.Ala328Pro) c.1378G>C (p.Ala460Pro) c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
| 20 | g.63414927C= | CA2374778771 | KCNQ2 | c.1447G= (p.Ala483=) c.1501G= (p.Ala501=) c.898G= (p.Ala300=) c.1411G= (p.Ala471=) c.1069G= (p.Ala357=) c.1417G= (p.Ala473=) c.1381G= (p.Ala461=) c.561G= c.109G= (p.Ala37=) c.1471G= (p.Ala491=) c.1375G= (p.Ala459=) c.982G= (p.Ala328=) c.1378G= (p.Ala460=) c.409G= (p.Ala137=) | dbSNP |