| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71513868C>G | CA1705422 | DYSF | c.610C>G (p.Arg204Gly) c.706C>G (p.Arg236Gly) c.613C>G (p.Arg205Gly) c.703C>G (p.Arg235Gly) n.864C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71513868C>T | CA222201 | DYSF | c.610C>T (p.Arg204Ter) c.706C>T (p.Arg236Ter) c.613C>T (p.Arg205Ter) c.703C>T (p.Arg235Ter) n.864C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71513868C>A | CA426698992 | DYSF | c.610C>A (p.Arg204=) c.706C>A (p.Arg236=) c.613C>A (p.Arg205=) c.703C>A (p.Arg235=) n.864C>A | dbSNP gnomAD v3 gnomAD v4 |