| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344757G>A | CA16042346 | SCN2A | c.2765G>A (p.Arg922His) c.*1084G>A (n.*1084G>A) c.*752G>A (n.*752G>A) c.*3288G>A (n.*3288G>A) c.*707G>A (n.*707G>A) c.2369G>A (p.Arg790His) c.203G>A (p.Arg68His) c.616G>A n.2908G>A c.2735G>A (p.Arg912His) c.2012G>A (p.Arg671His) c.563G>A (p.Arg188His) | ClinVar dbSNP |
| 2 | g.165344757G= | CA1304545520 | SCN2A | c.2765G= (p.Arg922=) c.*1084G= (n.*1084G=) c.*752G= (n.*752G=) c.*3288G= (n.*3288G=) c.*707G= (n.*707G=) c.2369G= (p.Arg790=) c.203G= (p.Arg68=) c.616G= n.2908G= c.2735G= (p.Arg912=) c.2012G= (p.Arg671=) c.563G= (p.Arg188=) | dbSNP |