| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344766T>C | CA16042355 | SCN2A | c.2774T>C (p.Met925Thr) c.*1093T>C (n.*1093T>C) c.*761T>C (n.*761T>C) c.*3297T>C (n.*3297T>C) c.*716T>C (n.*716T>C) c.2378T>C (p.Met793Thr) c.212T>C (p.Met71Thr) c.625T>C n.2917T>C c.2744T>C (p.Met915Thr) c.2021T>C (p.Met674Thr) c.572T>C (p.Met191Thr) | ClinVar dbSNP |
| 2 | g.165344766T= | CA1304545525 | SCN2A | c.2774T= (p.Met925=) c.*1093T= (n.*1093T=) c.*761T= (n.*761T=) c.*3297T= (n.*3297T=) c.*716T= (n.*716T=) c.2378T= (p.Met793=) c.212T= (p.Met71=) c.625T= n.2917T= c.2744T= (p.Met915=) c.2021T= (p.Met674=) c.572T= (p.Met191=) | dbSNP |