| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63945602T>C | CA117843 | SCN4A | c.3478A>G (p.Ile1160Val) | ClinVar dbSNP |
| 17 | g.63945602T= | CA2270162986 | SCN4A | c.3478A= (p.Ile1160=) | dbSNP |
| 17 | g.63945602T>A | CA400618676 | SCN4A | c.3478A>T (p.Ile1160Phe) | dbSNP gnomAD v4 |