| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165354262A>G | CA16603912 | SCN2A | c.2990A>G (p.Asp997Gly) c.*1309A>G (n.*1309A>G) c.*977A>G (n.*977A>G) c.*3513A>G (n.*3513A>G) c.*932A>G (n.*932A>G) c.2594A>G (p.Asp865Gly) c.736A>G (n.736A>G) c.555A>G (n.555A>G) c.841A>G n.3133A>G c.2960A>G (p.Asp987Gly) c.2237A>G (p.Asp746Gly) c.788A>G (p.Asp263Gly) | ClinVar dbSNP |
| 2 | g.165354262A= | CA1304549986 | SCN2A | c.2990A= (p.Asp997=) c.*1309A= (n.*1309A=) c.*977A= (n.*977A=) c.*3513A= (n.*3513A=) c.*932A= (n.*932A=) c.2594A= (p.Asp865=) c.736A= (n.736A=) c.555A= (n.555A=) c.841A= n.3133A= c.2960A= (p.Asp987=) c.2237A= (p.Asp746=) c.788A= (p.Asp263=) | dbSNP dbSNP |