| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71551610del | CA222132 | DYSF | c.1642del c.1696del c.1645del c.1693del c.1738del c.1603del c.1735del c.1600del n.1896del | ClinVar dbSNP |
| 2 | g.71551610dup | CA10606691 | DYSF | c.1642dup c.1696dup c.1645dup c.1693dup c.1738dup c.1603dup c.1735dup c.1600dup n.1896dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |