| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51762665T>C | CA16042904 | SCN8A | c.2533T>C (p.Ser845Pro) c.380T>C c.537T>C n.2661T>C c.2566T>C (p.Ser856Pro) | ClinVar dbSNP |
| 12 | g.51762665T= | CA2036180534 | SCN8A | c.2533T= (p.Ser845=) c.380T= c.537T= n.2661T= c.2566T= (p.Ser856=) | dbSNP |