| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51786584A>G | CA242214 | SCN8A | c.3985A>G (p.Asn1329Asp) c.1779A>G c.2049A>G c.3862A>G (p.Asn1288Asp) n.236A>G c.4018A>G (p.Asn1340Asp) c.*83A>G (n.*83A>G) | ClinVar dbSNP |
| 12 | g.51786584A= | CA2036202783 | SCN8A | c.3985A= (p.Asn1329=) c.1779A= c.2049A= c.3862A= (p.Asn1288=) n.236A= c.4018A= (p.Asn1340=) c.*83A= (n.*83A=) | dbSNP |