| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63943846C>A | CA117840 | SCN4A | c.3917G>T (p.Gly1306Val) c.3917G>T (p.Arg1306Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63943846C>G | CA117845 | SCN4A | c.3917G>C (p.Gly1306Ala) c.3917G>C (p.Arg1306Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63943846C>T | CA117852 | SCN4A | c.3917G>A (p.Gly1306Glu) c.3917G>A (p.Arg1306Lys) | ClinVar dbSNP |