| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51790404G>A | CA16619563 | SCN8A | c.4426G>A (p.Gly1476Ser) c.2490G>A c.4303G>A (p.Gly1435Ser) c.4459G>A (p.Gly1487Ser) | ClinVar dbSNP |
| 12 | g.51790404G= | CA2036173375 | SCN8A | c.4426G= (p.Gly1476=) c.2490G= c.4303G= (p.Gly1435=) c.4459G= (p.Gly1487=) | dbSNP |
| 12 | g.51790404G>T | CA384909012 | SCN8A | c.4426G>T (p.Gly1476Cys) c.2490G>T c.4303G>T (p.Gly1435Cys) c.4459G>T (p.Gly1487Cys) | ClinVar dbSNP gnomAD v4 |