| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806958C>A | CA155097 | SCN8A | c.5472C>A (p.Pro1824=) c.3536C>A c.5349C>A (p.Pro1783=) c.5505C>A (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51806958C>G | CA6571920 | SCN8A | c.5472C>G (p.Pro1824=) c.3536C>G c.5349C>G (p.Pro1783=) c.5505C>G (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51806958C>T | CA236327655 | SCN8A | c.5472C>T (p.Pro1824=) c.3536C>T c.5349C>T (p.Pro1783=) c.5505C>T (p.Pro1835=) | dbSNP |