| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165367339G>T | CA16617268 | SCN2A | c.3643G>T (p.Val1215Phe) c.*1962G>T (n.*1962G>T) c.*1630G>T (n.*1630G>T) c.*4166G>T (n.*4166G>T) c.*1585G>T (n.*1585G>T) c.3247G>T (p.Val1083Phe) n.3786G>T c.3613G>T (p.Val1205Phe) c.2890G>T (p.Val964Phe) c.1441G>T (p.Val481Phe) | ClinVar dbSNP |
| 2 | g.165367339G= | CA1304555348 | SCN2A | c.3643G= (p.Val1215=) c.*1962G= (n.*1962G=) c.*1630G= (n.*1630G=) c.*4166G= (n.*4166G=) c.*1585G= (n.*1585G=) c.3247G= (p.Val1083=) n.3786G= c.3613G= (p.Val1205=) c.2890G= (p.Val964=) c.1441G= (p.Val481=) | dbSNP |