| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344679C>T | CA16044307 | SCN2A | c.2687C>T (p.Ala896Val) c.*1006C>T (n.*1006C>T) c.*674C>T (n.*674C>T) c.*3210C>T (n.*3210C>T) c.*629C>T (n.*629C>T) c.2291C>T (p.Ala764Val) c.125C>T (p.Ala42Val) c.538C>T n.2830C>T c.2657C>T (p.Ala886Val) c.1934C>T (p.Ala645Val) c.485C>T (p.Ala162Val) | ClinVar dbSNP |
| 2 | g.165344679C= | CA1304545489 | SCN2A | c.2687C= (p.Ala896=) c.*1006C= (n.*1006C=) c.*674C= (n.*674C=) c.*3210C= (n.*3210C=) c.*629C= (n.*629C=) c.2291C= (p.Ala764=) c.125C= (p.Ala42=) c.538C= n.2830C= c.2657C= (p.Ala886=) c.1934C= (p.Ala645=) c.485C= (p.Ala162=) | dbSNP |