| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941940G>C | CA400616190 | SCN4A | c.4342C>G (p.Arg1448Gly) | ClinVar dbSNP |
| 17 | g.63941940G>A | CA117835 | SCN4A | c.4342C>T (p.Arg1448Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63941940G>T | CA350903 | SCN4A | c.4342C>A (p.Arg1448Ser) | ClinVar dbSNP |
| 17 | g.63941940G= | CA2270161188 | SCN4A | c.4342C= (p.Arg1448=) | dbSNP |