| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165388667T>C | CA16042357 | SCN2A | c.4861T>C (p.Ser1621Pro) c.*3180T>C (n.*3180T>C) c.*2848T>C (n.*2848T>C) c.*5384T>C (n.*5384T>C) c.*2803T>C (n.*2803T>C) c.4465T>C (p.Ser1489Pro) n.8292T>C c.4831T>C (p.Ser1611Pro) c.4108T>C (p.Ser1370Pro) c.2659T>C (p.Ser887Pro) | ClinVar dbSNP |
| 2 | g.165388667T= | CA1304564729 | SCN2A | c.4861T= (p.Ser1621=) c.*3180T= (n.*3180T=) c.*2848T= (n.*2848T=) c.*5384T= (n.*5384T=) c.*2803T= (n.*2803T=) c.4465T= (p.Ser1489=) n.8292T= c.4831T= (p.Ser1611=) c.4108T= (p.Ser1370=) c.2659T= (p.Ser887=) | dbSNP |