| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165381114A>G | CA354193 | SCN2A | c.4468A>G (p.Met1490Val) c.*2787A>G (n.*2787A>G) c.*2455A>G (n.*2455A>G) c.*4991A>G (n.*4991A>G) c.*2410A>G (n.*2410A>G) c.4072A>G (p.Met1358Val) n.7899A>G c.4438A>G (p.Met1480Val) c.3715A>G (p.Met1239Val) c.2266A>G (p.Met756Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165381114A= | CA1304561230 | SCN2A | c.4468A= (p.Met1490=) c.*2787A= (n.*2787A=) c.*2455A= (n.*2455A=) c.*4991A= (n.*4991A=) c.*2410A= (n.*2410A=) c.4072A= (p.Met1358=) n.7899A= c.4438A= (p.Met1480=) c.3715A= (p.Met1239=) c.2266A= (p.Met756=) | dbSNP |