| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51807101G>T | CA318301 | SCN8A | c.5615G>T (p.Arg1872Leu) c.5492G>T (p.Arg1831Leu) c.5648G>T (p.Arg1883Leu) | ClinVar dbSNP |
| 12 | g.51807101G>A | CA10586302 | SCN8A | c.5615G>A (p.Arg1872Gln) c.5492G>A (p.Arg1831Gln) c.5648G>A (p.Arg1883Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51807101G= | CA2036194555 | SCN8A | c.5615G= (p.Arg1872=) c.5492G= (p.Arg1831=) c.5648G= (p.Arg1883=) | dbSNP |