| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63957493G>T | CA400631374 | SCN4A | c.2045C>A (p.Ser682Ter) | dbSNP |
| 17 | g.63957493G>C | CA8709667 | SCN4A | c.2045C>G (p.Ser682Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63957493G>A | CA8709666 | SCN4A | c.2045C>T (p.Ser682Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |