| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51789419A>G | CA16619562 | SCN8A | c.4419+1A>G (n.4419+1A>G) c.2483+1A>G c.4296+1A>G (n.4296+1A>G) c.4452+1A>G (n.4452+1A>G) | ClinVar dbSNP |
| 12 | g.51789419A= | CA2036172351 | SCN8A | c.4419+1A= (n.4419+1A=) c.2483+1A= c.4296+1A= (n.4296+1A=) c.4452+1A= (n.4452+1A=) | dbSNP |