| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165388709C>T | CA16617270 | SCN2A | c.4903C>T (p.Arg1635Ter) c.*3222C>T (n.*3222C>T) c.*2890C>T (n.*2890C>T) c.*5426C>T (n.*5426C>T) c.*2845C>T (n.*2845C>T) c.4507C>T (p.Arg1503Ter) n.8334C>T c.4873C>T (p.Arg1625Ter) c.4150C>T (p.Arg1384Ter) c.2701C>T (p.Arg901Ter) | ClinVar dbSNP |
| 2 | g.165388709C= | CA1304563863 | SCN2A | c.4903C= (p.Arg1635=) c.*3222C= (n.*3222C=) c.*2890C= (n.*2890C=) c.*5426C= (n.*5426C=) c.*2845C= (n.*2845C=) c.4507C= (p.Arg1503=) n.8334C= c.4873C= (p.Arg1625=) c.4150C= (p.Arg1384=) c.2701C= (p.Arg901=) | dbSNP |