| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51790416T>A | CA16606654 | SCN8A | c.4438T>A (p.Phe1480Ile) c.2502T>A c.4315T>A (p.Phe1439Ile) c.4471T>A (p.Phe1491Ile) | ClinVar dbSNP |
| 12 | g.51790416T>C | CA318280 | SCN8A | c.4438T>C (p.Phe1480Leu) c.2502T>C c.4315T>C (p.Phe1439Leu) c.4471T>C (p.Phe1491Leu) | ClinVar dbSNP |
| 12 | g.51790416T= | CA2036173444 | SCN8A | c.4438T= (p.Phe1480=) c.2502T= c.4315T= (p.Phe1439=) c.4471T= (p.Phe1491=) | dbSNP |
| 12 | g.51790416T>G | CA384909039 | SCN8A | c.4438T>G (p.Phe1480Val) c.2502T>G c.4315T>G (p.Phe1439Val) c.4471T>G (p.Phe1491Val) | ClinVar dbSNP |