Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51699665A>T | CA385226553 | SCN8A | c.802A>T (p.Ile268Phe) c.*1240A>T (n.*1240A>T) n.930A>T c.352A>T (p.Ile118Phe) | ClinVar dbSNP |
12 | g.51699665A>C | CA385226551 | SCN8A | c.802A>C (p.Ile268Leu) c.*1240A>C (n.*1240A>C) n.930A>C c.352A>C (p.Ile118Leu) | ClinVar dbSNP |