| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344867T>C | CA16604013 | SCN2A | c.2875T>C (p.Cys959Arg) c.*1194T>C (n.*1194T>C) c.*862T>C (n.*862T>C) c.*3398T>C (n.*3398T>C) c.*817T>C (n.*817T>C) c.2479T>C (p.Cys827Arg) c.313T>C (p.Cys105Arg) c.726T>C n.3018T>C c.2845T>C (p.Cys949Arg) c.2122T>C (p.Cys708Arg) c.673T>C (p.Cys225Arg) | ClinVar dbSNP |
| 2 | g.165344867T= | CA1304545567 | SCN2A | c.2875T= (p.Cys959=) c.*1194T= (n.*1194T=) c.*862T= (n.*862T=) c.*3398T= (n.*3398T=) c.*817T= (n.*817T=) c.2479T= (p.Cys827=) c.313T= (p.Cys105=) c.726T= n.3018T= c.2845T= (p.Cys949=) c.2122T= (p.Cys708=) c.673T= (p.Cys225=) | dbSNP |