| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51789397C>A | CA170758 | SCN8A | c.4398C>A (p.Asn1466Lys) c.2462C>A c.4275C>A (p.Asn1425Lys) c.4431C>A (p.Asn1477Lys) | ClinVar dbSNP |
| 12 | g.51789397C>G | CA384908571 | SCN8A | c.4398C>G (p.Asn1466Lys) c.2462C>G c.4275C>G (p.Asn1425Lys) c.4431C>G (p.Asn1477Lys) | ClinVar dbSNP |
| 12 | g.51789397C= | CA2036172283 | SCN8A | c.4398C= (p.Asn1466=) c.2462C= c.4275C= (p.Asn1425=) c.4431C= (p.Asn1477=) | dbSNP |
| 12 | g.51789397C>T | CA479795022 | SCN8A | c.4398C>T (p.Asn1466=) c.2462C>T c.4275C>T (p.Asn1425=) c.4431C>T (p.Asn1477=) | ClinVar dbSNP |