| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165370147G>T | CA16603364 | SCN2A | c.3697G>T (p.Glu1233Ter) c.*2016G>T (n.*2016G>T) c.*1684G>T (n.*1684G>T) c.*4220G>T (n.*4220G>T) c.*1639G>T (n.*1639G>T) c.3301G>T (p.Glu1101Ter) n.3840G>T c.3667G>T (p.Glu1223Ter) c.2944G>T (p.Glu982Ter) c.1495G>T (p.Glu499Ter) | ClinVar dbSNP |
| 2 | g.165370147G= | CA1304556574 | SCN2A | c.3697G= (p.Glu1233=) c.*2016G= (n.*2016G=) c.*1684G= (n.*1684G=) c.*4220G= (n.*4220G=) c.*1639G= (n.*1639G=) c.3301G= (p.Glu1101=) n.3840G= c.3667G= (p.Glu1223=) c.2944G= (p.Glu982=) c.1495G= (p.Glu499=) | dbSNP |