| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165370153C>T | CA349027628 | SCN2A | c.3703C>T (p.Arg1235Ter) c.*2022C>T (n.*2022C>T) c.*1690C>T (n.*1690C>T) c.*4226C>T (n.*4226C>T) c.*1645C>T (n.*1645C>T) c.3307C>T (p.Arg1103Ter) n.3846C>T c.3673C>T (p.Arg1225Ter) c.2950C>T (p.Arg984Ter) c.1501C>T (p.Arg501Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165370153C= | CA1304556579 | SCN2A | c.3703C= (p.Arg1235=) c.*2022C= (n.*2022C=) c.*1690C= (n.*1690C=) c.*4226C= (n.*4226C=) c.*1645C= (n.*1645C=) c.3307C= (p.Arg1103=) n.3846C= c.3673C= (p.Arg1225=) c.2950C= (p.Arg984=) c.1501C= (p.Arg501=) | dbSNP |