| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71535282C>T | CA1705766 | DYSF | c.1368C>T (p.Cys456=) c.1464C>T (p.Cys488=) c.1371C>T (p.Cys457=) c.1461C>T (p.Cys487=) n.1622C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.71535282C>A | CA222125 | DYSF | c.1368C>A (p.Cys456Ter) c.1464C>A (p.Cys488Ter) c.1371C>A (p.Cys457Ter) c.1461C>A (p.Cys487Ter) n.1622C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |