| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165374697G>T | CA16603921 | SCN2A | c.3985G>T (p.Ala1329Ser) c.*2304G>T (n.*2304G>T) c.*1972G>T (n.*1972G>T) c.*4508G>T (n.*4508G>T) c.*1927G>T (n.*1927G>T) c.3589G>T (p.Ala1197Ser) n.7053G>T c.3955G>T (p.Ala1319Ser) c.3232G>T (p.Ala1078Ser) c.1783G>T (p.Ala595Ser) | ClinVar dbSNP |
| 2 | g.165374697G= | CA1304559646 | SCN2A | c.3985G= (p.Ala1329=) c.*2304G= (n.*2304G=) c.*1972G= (n.*1972G=) c.*4508G= (n.*4508G=) c.*1927G= (n.*1927G=) c.3589G= (p.Ala1197=) n.7053G= c.3955G= (p.Ala1319=) c.3232G= (p.Ala1078=) c.1783G= (p.Ala595=) | dbSNP |