| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135779468A>G | CA16044324 | KCNT1 | c.2839A>G (p.Lys947Glu) c.2680A>G (p.Lys894Glu) c.2587A>G (p.Lys863Glu) n.1373A>G c.2596A>G (p.Lys866Glu) c.2740A>G (p.Lys914Glu) c.*2449A>G (n.*2449A>G) c.2722A>G (p.Lys908Glu) c.2782A>G (p.Lys928Glu) c.2776A>G (p.Lys926Glu) n.2658A>G c.2704A>G (p.Lys902Glu) c.2674A>G (p.Lys892Glu) c.705A>G (n.705A>G) c.2974A>G (p.Lys992Glu) c.2983A>G (p.Lys995Glu) c.2329A>G (p.Lys777Glu) c.2773A>G (p.Lys925Glu) | ClinVar dbSNP |
| 9 | g.135779468A= | CA1883875298 | KCNT1 | c.2839A= (p.Lys947=) c.2680A= (p.Lys894=) c.2587A= (p.Lys863=) n.1373A= c.2596A= (p.Lys866=) c.2740A= (p.Lys914=) c.*2449A= (n.*2449A=) c.2722A= (p.Lys908=) c.2782A= (p.Lys928=) c.2776A= (p.Lys926=) n.2658A= c.2704A= (p.Lys902=) c.2674A= (p.Lys892=) c.705A= (n.705A=) c.2974A= (p.Lys992=) c.2983A= (p.Lys995=) c.2329A= (p.Lys777=) c.2773A= (p.Lys925=) | dbSNP |