| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165342465G>C | CA349012929 | SCN2A | c.2558G>C (p.Arg853Pro) c.*877G>C (n.*877G>C) c.*545G>C (n.*545G>C) c.*3081G>C (n.*3081G>C) c.*500G>C (n.*500G>C) c.2162G>C (p.Arg721Pro) c.409G>C n.2701G>C c.2528G>C (p.Arg843Pro) c.1805G>C (p.Arg602Pro) c.356G>C (p.Arg119Pro) | ClinVar dbSNP |
| 2 | g.165342465G>A | CA210022 | SCN2A | c.2558G>A (p.Arg853Gln) c.*877G>A (n.*877G>A) c.*545G>A (n.*545G>A) c.*3081G>A (n.*3081G>A) c.*500G>A (n.*500G>A) c.2162G>A (p.Arg721Gln) c.409G>A n.2701G>A c.2528G>A (p.Arg843Gln) c.1805G>A (p.Arg602Gln) c.356G>A (p.Arg119Gln) | ClinVar dbSNP |
| 2 | g.165342465G= | CA1304544242 | SCN2A | c.2558G= (p.Arg853=) c.*877G= (n.*877G=) c.*545G= (n.*545G=) c.*3081G= (n.*3081G=) c.*500G= (n.*500G=) c.2162G= (p.Arg721=) c.409G= n.2701G= c.2528G= (p.Arg843=) c.1805G= (p.Arg602=) c.356G= (p.Arg119=) | dbSNP |