| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63957460A>G | CA117855 | SCN4A | c.2078T>C (p.Ile693Thr) | ClinVar dbSNP |
| 17 | g.63957460A>T | CA400631228 | SCN4A | c.2078T>A (p.Ile693Asn) | dbSNP |
| 17 | g.63957460A>C | CA400631226 | SCN4A | c.2078T>G (p.Ile693Ser) | ClinVar dbSNP |
| 17 | g.63957460A= | CA2270168676 | SCN4A | c.2078T= (p.Ile693=) | dbSNP |