| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63945614C>T | CA117837 | SCN4A | c.3466G>A (p.Ala1156Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945614C>A | CA8709250 | SCN4A | c.3466G>T (p.Ala1156Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945614C= | CA2270162991 | SCN4A | c.3466G= (p.Ala1156=) | dbSNP |