| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63968310A>C | CA400637779 | SCN4A | c.749T>G (p.Leu250Arg) | ClinVar dbSNP |
| 17 | g.63968310A>G | CA16607433 | SCN4A | c.749T>C (p.Leu250Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63968310A= | CA2270173977 | SCN4A | c.749T= (p.Leu250=) | dbSNP |