| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165388682C>T | CA16610261 | SCN2A | c.4876C>T (p.Arg1626Ter) c.*3195C>T (n.*3195C>T) c.*2863C>T (n.*2863C>T) c.*5399C>T (n.*5399C>T) c.*2818C>T (n.*2818C>T) c.4480C>T (p.Arg1494Ter) n.8307C>T c.4846C>T (p.Arg1616Ter) c.4123C>T (p.Arg1375Ter) c.2674C>T (p.Arg892Ter) | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.165388682C= | CA1304564741 | SCN2A | c.4876C= (p.Arg1626=) c.*3195C= (n.*3195C=) c.*2863C= (n.*2863C=) c.*5399C= (n.*5399C=) c.*2818C= (n.*2818C=) c.4480C= (p.Arg1494=) n.8307C= c.4846C= (p.Arg1616=) c.4123C= (p.Arg1375=) c.2674C= (p.Arg892=) | dbSNP |