| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165367327G>A | CA128708 | SCN2A | c.3631G>A (p.Glu1211Lys) c.*1950G>A (n.*1950G>A) c.*1618G>A (n.*1618G>A) c.*4154G>A (n.*4154G>A) c.*1573G>A (n.*1573G>A) c.3235G>A (p.Glu1079Lys) n.3774G>A c.3601G>A (p.Glu1201Lys) c.2878G>A (p.Glu960Lys) c.1429G>A (p.Glu477Lys) | ClinVar dbSNP |
| 2 | g.165367327G>T | CA349026256 | SCN2A | c.3631G>T (p.Glu1211Ter) c.*1950G>T (n.*1950G>T) c.*1618G>T (n.*1618G>T) c.*4154G>T (n.*4154G>T) c.*1573G>T (n.*1573G>T) c.3235G>T (p.Glu1079Ter) n.3774G>T c.3601G>T (p.Glu1201Ter) c.2878G>T (p.Glu960Ter) c.1429G>T (p.Glu477Ter) | dbSNP |