| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941922G>T | CA501348524 | SCN4A | c.4360C>A (p.Arg1454=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63941922G>A | CA10584065 | SCN4A | c.4360C>T (p.Arg1454Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63941922G= | CA2270161175 | SCN4A | c.4360C= (p.Arg1454=) | dbSNP |