| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165310413C>T | CA128711 | SCN2A | c.788C>T (p.Ala263Val) n.1151C>T c.659C>T (p.Ala220Val) c.*1311C>T (n.*1311C>T) c.392C>T (p.Ala131Val) c.*721C>T (n.*721C>T) n.872C>T n.931C>T c.329C>T (p.Ala110Val) c.758C>T (p.Ala253Val) c.35C>T (p.Ala12Val) | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.165310413C>A | CA349018097 | SCN2A | c.788C>A (p.Ala263Glu) n.1151C>A c.659C>A (p.Ala220Glu) c.*1311C>A (n.*1311C>A) c.392C>A (p.Ala131Glu) c.*721C>A (n.*721C>A) n.872C>A n.931C>A c.329C>A (p.Ala110Glu) c.758C>A (p.Ala253Glu) c.35C>A (p.Ala12Glu) | ClinVar dbSNP |
| 2 | g.165310413C>G | CA349018095 | SCN2A | c.788C>G (p.Ala263Gly) n.1151C>G c.659C>G (p.Ala220Gly) c.*1311C>G (n.*1311C>G) c.392C>G (p.Ala131Gly) c.*721C>G (n.*721C>G) n.872C>G n.931C>G c.329C>G (p.Ala110Gly) c.758C>G (p.Ala253Gly) c.35C>G (p.Ala12Gly) | ClinVar dbSNP |
| 2 | g.165310413C= | CA1304530363 | SCN2A | c.788C= (p.Ala263=) n.1151C= c.659C= (p.Ala220=) c.*1311C= (n.*1311C=) c.392C= (p.Ala131=) c.*721C= (n.*721C=) n.872C= n.931C= c.329C= (p.Ala110=) c.758C= (p.Ala253=) c.35C= (p.Ala12=) | dbSNP |