| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165373342A>G | CA16044308 | SCN2A | c.3967A>G (p.Met1323Val) c.*2286A>G (n.*2286A>G) c.*1954A>G (n.*1954A>G) c.*4490A>G (n.*4490A>G) c.*1909A>G (n.*1909A>G) c.3571A>G (p.Met1191Val) n.7035A>G c.3937A>G (p.Met1313Val) c.3214A>G (p.Met1072Val) c.1765A>G (p.Met589Val) | ClinVar dbSNP |
| 2 | g.165373342A= | CA1304558586 | SCN2A | c.3967A= (p.Met1323=) c.*2286A= (n.*2286A=) c.*1954A= (n.*1954A=) c.*4490A= (n.*4490A=) c.*1909A= (n.*1909A=) c.3571A= (p.Met1191=) n.7035A= c.3937A= (p.Met1313=) c.3214A= (p.Met1072=) c.1765A= (p.Met589=) | dbSNP |