| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63951891G>A | CA16607431 | SCN4A | c.2386C>T (p.Leu796=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63951891G>C | CA16607432 | SCN4A | c.2386C>G (p.Leu796Val) | ClinVar dbSNP |
| 17 | g.63951891G= | CA2270166121 | SCN4A | c.2386C= (p.Leu796=) | dbSNP |