| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165380702A>G | CA128710 | SCN2A | c.4419A>G (p.Ile1473Met) c.*2738A>G (n.*2738A>G) c.*2406A>G (n.*2406A>G) c.*4942A>G (n.*4942A>G) c.*2361A>G (n.*2361A>G) c.4023A>G (p.Ile1341Met) n.7487A>G c.4389A>G (p.Ile1463Met) c.3666A>G (p.Ile1222Met) c.2217A>G (p.Ile739Met) | ClinVar dbSNP |
| 2 | g.165380702A>C | CA429888218 | SCN2A | c.4419A>C (p.Ile1473=) c.*2738A>C (n.*2738A>C) c.*2406A>C (n.*2406A>C) c.*4942A>C (n.*4942A>C) c.*2361A>C (n.*2361A>C) c.4023A>C (p.Ile1341=) n.7487A>C c.4389A>C (p.Ile1463=) c.3666A>C (p.Ile1222=) c.2217A>C (p.Ile739=) | dbSNP |
| 2 | g.165380702A= | CA1304561051 | SCN2A | c.4419A= (p.Ile1473=) c.*2738A= (n.*2738A=) c.*2406A= (n.*2406A=) c.*4942A= (n.*4942A=) c.*2361A= (n.*2361A=) c.4023A= (p.Ile1341=) n.7487A= c.4389A= (p.Ile1463=) c.3666A= (p.Ile1222=) c.2217A= (p.Ile739=) | dbSNP |