| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344869C>A | CA16610183 | SCN2A | c.2877C>A (p.Cys959Ter) c.*1196C>A (n.*1196C>A) c.*864C>A (n.*864C>A) c.*3400C>A (n.*3400C>A) c.*819C>A (n.*819C>A) c.2481C>A (p.Cys827Ter) c.315C>A (p.Cys105Ter) c.728C>A n.3020C>A c.2847C>A (p.Cys949Ter) c.2124C>A (p.Cys708Ter) c.675C>A (p.Cys225Ter) | ClinVar dbSNP |
| 2 | g.165344869C>T | CA1940030 | SCN2A | c.2877C>T (p.Cys959=) c.*1196C>T (n.*1196C>T) c.*864C>T (n.*864C>T) c.*3400C>T (n.*3400C>T) c.*819C>T (n.*819C>T) c.2481C>T (p.Cys827=) c.315C>T (p.Cys105=) c.728C>T n.3020C>T c.2847C>T (p.Cys949=) c.2124C>T (p.Cys708=) c.675C>T (p.Cys225=) | dbSNP ExAC gnomAD v2 gnomAD v4 |