| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941169A>T | CA16620553 | SCN4A | c.5113T>A (p.Phe1705Ile) | ClinVar dbSNP |
| 17 | g.63941169A>G | CA400614003 | SCN4A | c.5113T>C (p.Phe1705Leu) | dbSNP gnomAD v4 |
| 17 | g.63941169A= | CA2270160813 | SCN4A | c.5113T= (p.Phe1705=) | dbSNP |