| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63957427G>A | CA117833 | SCN4A | c.2111C>T (p.Thr704Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63957427G= | CA2270168663 | SCN4A | c.2111C= (p.Thr704=) | dbSNP |
| 17 | g.63957427G>C | CA400631111 | SCN4A | c.2111C>G (p.Thr704Arg) | dbSNP |