| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165373331G>T | CA16603920 | SCN2A | c.3956G>T (p.Arg1319Leu) c.*2275G>T (n.*2275G>T) c.*1943G>T (n.*1943G>T) c.*4479G>T (n.*4479G>T) c.*1898G>T (n.*1898G>T) c.3560G>T (p.Arg1187Leu) n.7024G>T c.3926G>T (p.Arg1309Leu) c.3203G>T (p.Arg1068Leu) c.1754G>T (p.Arg585Leu) | ClinVar dbSNP |
| 2 | g.165373331G>A | CA122773 | SCN2A | c.3956G>A (p.Arg1319Gln) c.*2275G>A (n.*2275G>A) c.*1943G>A (n.*1943G>A) c.*4479G>A (n.*4479G>A) c.*1898G>A (n.*1898G>A) c.3560G>A (p.Arg1187Gln) n.7024G>A c.3926G>A (p.Arg1309Gln) c.3203G>A (p.Arg1068Gln) c.1754G>A (p.Arg585Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |