| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165388710G>A | CA16603923 | SCN2A | c.4904G>A (p.Arg1635Gln) c.*3223G>A (n.*3223G>A) c.*2891G>A (n.*2891G>A) c.*5427G>A (n.*5427G>A) c.*2846G>A (n.*2846G>A) c.4508G>A (p.Arg1503Gln) n.8335G>A c.4874G>A (p.Arg1625Gln) c.4151G>A (p.Arg1384Gln) c.2702G>A (p.Arg901Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.165388710G= | CA1304563866 | SCN2A | c.4904G= (p.Arg1635=) c.*3223G= (n.*3223G=) c.*2891G= (n.*2891G=) c.*5427G= (n.*5427G=) c.*2846G= (n.*2846G=) c.4508G= (p.Arg1503=) n.8335G= c.4874G= (p.Arg1625=) c.4151G= (p.Arg1384=) c.2702G= (p.Arg901=) | dbSNP |