| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.118168740G>A | CA214436 | SCN2B | c.82C>T (p.Arg28Trp) c.186C>T (p.Asp62=) n.318C>T n.324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.118168740G>C | CA382769820 | SCN2B | c.82C>G (p.Arg28Gly) c.186C>G (p.Asp62Glu) n.318C>G n.324C>G | dbSNP |
| 11 | g.118168740G= | CA2003378007 | SCN2B | c.82C= (p.Arg28=) c.186C= (p.Asp62=) n.318C= n.324C= | dbSNP |
| 11 | g.118168740G>T | CA477080601 | SCN2B | c.82C>A (p.Arg28=) c.186C>A (p.Asp62Glu) n.318C>A n.324C>A | ClinVar dbSNP |