| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71511847G>A | CA147747 | DYSF | c.383G>A (p.Gly128Glu) c.386G>A (p.Gly129Glu) n.544G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71511847G>C | CA347205449 | DYSF | c.383G>C (p.Gly128Ala) c.386G>C (p.Gly129Ala) n.544G>C | dbSNP |
| 2 | g.71511847G= | CA1260076362 | DYSF | c.383G= (p.Gly128=) c.386G= (p.Gly129=) n.544G= | dbSNP |