| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941819A>G | CA16607427 | SCN4A | c.4463T>C (p.Leu1488Pro) | ClinVar dbSNP |
| 17 | g.63941819A>T | CA400615971 | SCN4A | c.4463T>A (p.Leu1488His) | dbSNP gnomAD v4 |
| 17 | g.63941819A= | CA2270161117 | SCN4A | c.4463T= (p.Leu1488=) | dbSNP |