| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344759T>C | CA16603904 | SCN2A | c.2767T>C (p.Trp923Arg) c.*1086T>C (n.*1086T>C) c.*754T>C (n.*754T>C) c.*3290T>C (n.*3290T>C) c.*709T>C (n.*709T>C) c.2371T>C (p.Trp791Arg) c.205T>C (p.Trp69Arg) c.618T>C n.2910T>C c.2737T>C (p.Trp913Arg) c.2014T>C (p.Trp672Arg) c.565T>C (p.Trp189Arg) | ClinVar dbSNP |
| 2 | g.165344759T= | CA1304545522 | SCN2A | c.2767T= (p.Trp923=) c.*1086T= (n.*1086T=) c.*754T= (n.*754T=) c.*3290T= (n.*3290T=) c.*709T= (n.*709T=) c.2371T= (p.Trp791=) c.205T= (p.Trp69=) c.618T= n.2910T= c.2737T= (p.Trp913=) c.2014T= (p.Trp672=) c.565T= (p.Trp189=) | dbSNP |