| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63943006T>C | CA341673 | SCN4A | c.4108A>G (p.Met1370Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63943006T= | CA2270161739 | SCN4A | c.4108A= (p.Met1370=) | dbSNP |
| 17 | g.63943006T>G | CA400616724 | SCN4A | c.4108A>C (p.Met1370Leu) | dbSNP gnomAD v4 |