| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165377606A>G | CA317963 | SCN2A | c.4264A>G (p.Lys1422Glu) c.*2583A>G (n.*2583A>G) c.*2251A>G (n.*2251A>G) c.*4787A>G (n.*4787A>G) c.*2206A>G (n.*2206A>G) c.3868A>G (p.Lys1290Glu) n.7332A>G c.4234A>G (p.Lys1412Glu) c.3511A>G (p.Lys1171Glu) c.2062A>G (p.Lys688Glu) | ClinVar dbSNP |
| 2 | g.165377606A>T | CA349032947 | SCN2A | c.4264A>T (p.Lys1422Ter) c.*2583A>T (n.*2583A>T) c.*2251A>T (n.*2251A>T) c.*4787A>T (n.*4787A>T) c.*2206A>T (n.*2206A>T) c.3868A>T (p.Lys1290Ter) n.7332A>T c.4234A>T (p.Lys1412Ter) c.3511A>T (p.Lys1171Ter) c.2062A>T (p.Lys688Ter) | dbSNP |