| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71564125G>A | CA1706183 | DYSF | c.2423G>A (p.Arg808Gln) c.2477G>A (p.Arg826Gln) c.2426G>A (p.Arg809Gln) c.2474G>A (p.Arg825Gln) c.2519G>A (p.Arg840Gln) c.2384G>A (p.Arg795Gln) c.2516G>A (p.Arg839Gln) c.2381G>A (p.Arg794Gln) n.2677G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71564125G= | CA1260100718 | DYSF | c.2423G= (p.Arg808=) c.2477G= (p.Arg826=) c.2426G= (p.Arg809=) c.2474G= (p.Arg825=) c.2519G= (p.Arg840=) c.2384G= (p.Arg795=) c.2516G= (p.Arg839=) c.2381G= (p.Arg794=) n.2677G= | dbSNP |