| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806958C>G | CA6571920 | SCN8A | c.5349C>G (p.Pro1783=) c.5472C>G (p.Pro1824=) n.5349C>G (p.Pro1783=) n.5505C>G (p.Pro1835=) n.5472C>G (p.Pro1824=) | ClinVar dbSNP ExAC gnomAD |
| 12 | g.51806958C>A | CA155097 | SCN8A | c.5349C>A (p.Pro1783=) c.5472C>A (p.Pro1824=) n.5349C>A (p.Pro1783=) n.5505C>A (p.Pro1835=) n.5472C>A (p.Pro1824=) | ClinVar dbSNP ExAC gnomAD |
| 12 | g.51806958C>T | CA236327655 | SCN8A | c.5349C>T (p.Pro1783=) c.5472C>T (p.Pro1824=) n.5349C>T (p.Pro1783=) n.5505C>T (p.Pro1835=) n.5472C>T (p.Pro1824=) | dbSNP |