| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165310379A>G | CA128713 | SCN2A | c.754A>G (p.Met252Val) n.1117A>G c.625A>G (p.Met209Val) c.*1277A>G (n.*1277A>G) c.358A>G (p.Met120Val) c.*687A>G (n.*687A>G) n.838A>G n.897A>G c.295A>G (p.Met99Val) c.724A>G (p.Met242Val) c.1A>G (p.Met1Val) | ClinVar dbSNP |
| 2 | g.165310379A>T | CA349017955 | SCN2A | c.754A>T (p.Met252Leu) n.1117A>T c.625A>T (p.Met209Leu) c.*1277A>T (n.*1277A>T) c.358A>T (p.Met120Leu) c.*687A>T (n.*687A>T) n.838A>T n.897A>T c.295A>T (p.Met99Leu) c.724A>T (p.Met242Leu) c.1A>T (p.Met1Leu) | ClinVar dbSNP |
| 2 | g.165310379A= | CA1304530351 | SCN2A | c.754A= (p.Met252=) n.1117A= c.625A= (p.Met209=) c.*1277A= (n.*1277A=) c.358A= (p.Met120=) c.*687A= (n.*687A=) n.838A= n.897A= c.295A= (p.Met99=) c.724A= (p.Met242=) c.1A= (p.Met1=) | dbSNP |