| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165310448C>A | CA429972036 | SCN2A | c.823C>A (p.Arg275=) n.1186C>A c.694C>A (p.Arg232=) c.*1346C>A (n.*1346C>A) c.427C>A (p.Arg143=) c.*756C>A (n.*756C>A) n.907C>A n.966C>A c.364C>A (p.Arg122=) c.793C>A (p.Arg265=) c.70C>A (p.Arg24=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.165310448C>T | CA318080 | SCN2A | c.823C>T (p.Arg275Ter) n.1186C>T c.694C>T (p.Arg232Ter) c.*1346C>T (n.*1346C>T) c.427C>T (p.Arg143Ter) c.*756C>T (n.*756C>T) n.907C>T n.966C>T c.364C>T (p.Arg122Ter) c.793C>T (p.Arg265Ter) c.70C>T (p.Arg24Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |