| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135779423T>A | CA10602382 | KCNT1 | c.2794T>A (p.Phe932Ile) c.2635T>A (p.Phe879Ile) c.2542T>A (p.Phe848Ile) n.1328T>A c.2551T>A (p.Phe851Ile) c.2695T>A (p.Phe899Ile) c.*2404T>A (n.*2404T>A) c.2677T>A (p.Phe893Ile) c.2737T>A (p.Phe913Ile) c.2731T>A (p.Phe911Ile) n.2613T>A c.2659T>A (p.Phe887Ile) c.2629T>A (p.Phe877Ile) c.660T>A (n.660T>A) c.2929T>A (p.Phe977Ile) c.2938T>A (p.Phe980Ile) c.2284T>A (p.Phe762Ile) c.2728T>A (p.Phe910Ile) | ClinVar dbSNP |
| 9 | g.135779423T= | CA1883875197 | KCNT1 | c.2794T= (p.Phe932=) c.2635T= (p.Phe879=) c.2542T= (p.Phe848=) n.1328T= c.2551T= (p.Phe851=) c.2695T= (p.Phe899=) c.*2404T= (n.*2404T=) c.2677T= (p.Phe893=) c.2737T= (p.Phe913=) c.2731T= (p.Phe911=) n.2613T= c.2659T= (p.Phe887=) c.2629T= (p.Phe877=) c.660T= (n.660T=) c.2929T= (p.Phe977=) c.2938T= (p.Phe980=) c.2284T= (p.Phe762=) c.2728T= (p.Phe910=) | dbSNP |