| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71570679C>A | CA1706447 | DYSF | c.538C>A (p.Arg180=) c.3112C>A (p.Arg1038=) c.3166C>A (p.Arg1056=) c.3115C>A (p.Arg1039=) c.3163C>A (p.Arg1055=) c.3208C>A (p.Arg1070=) c.3073C>A (p.Arg1025=) c.3205C>A (p.Arg1069=) n.278C>A c.3070C>A (p.Arg1024=) n.3366C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71570679C>T | CA277609 | DYSF | c.538C>T (p.Arg180Ter) c.3112C>T (p.Arg1038Ter) c.3166C>T (p.Arg1056Ter) c.3115C>T (p.Arg1039Ter) c.3163C>T (p.Arg1055Ter) c.3208C>T (p.Arg1070Ter) c.3073C>T (p.Arg1025Ter) c.3205C>T (p.Arg1069Ter) n.278C>T c.3070C>T (p.Arg1024Ter) n.3366C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |