| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941895G>A | CA8708977 | SCN4A | c.4387C>T (p.Arg1463Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63941895G>T | CA8708976 | SCN4A | c.4387C>A (p.Arg1463Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941895G= | CA2270161161 | SCN4A | c.4387C= (p.Arg1463=) | dbSNP |