| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806788A>G | CA128948 | SCN8A | c.5302A>G (p.Asn1768Asp) c.3366A>G c.5179A>G (p.Asn1727Asp) c.5335A>G (p.Asn1779Asp) | ClinVar dbSNP |
| 12 | g.51806788A= | CA2036193753 | SCN8A | c.5302A= (p.Asn1768=) c.3366A= c.5179A= (p.Asn1727=) c.5335A= (p.Asn1779=) | dbSNP |