| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165388662T>C | CA349037607 | SCN2A | c.4856T>C (p.Phe1619Ser) c.*3175T>C (n.*3175T>C) c.*2843T>C (n.*2843T>C) c.*5379T>C (n.*5379T>C) c.*2798T>C (n.*2798T>C) c.4460T>C (p.Phe1487Ser) n.8287T>C c.4826T>C (p.Phe1609Ser) c.4103T>C (p.Phe1368Ser) c.2654T>C (p.Phe885Ser) | ClinVar dbSNP |
| 2 | g.165388662T= | CA1304564725 | SCN2A | c.4856T= (p.Phe1619=) c.*3175T= (n.*3175T=) c.*2843T= (n.*2843T=) c.*5379T= (n.*5379T=) c.*2798T= (n.*2798T=) c.4460T= (p.Phe1487=) n.8287T= c.4826T= (p.Phe1609=) c.4103T= (p.Phe1368=) c.2654T= (p.Phe885=) | dbSNP |