| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71459496G>A | CA533251021 | DYSF | c.88+5410G>A (n.88+5410G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71459496G>C | CA49735978 | DYSF | c.88+5410G>C (n.88+5410G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71459496G>T | CA49735982 | DYSF | c.88+5410G>T (n.88+5410G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71459496G= | CA1260051189 | DYSF | c.88+5410G= (n.88+5410G=) | dbSNP |