| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71569884C>T | CA1706331 | DYSF | c.301C>T (p.Arg101Trp) c.2875C>T (p.Arg959Trp) c.2929C>T (p.Arg977Trp) c.2878C>T (p.Arg960Trp) c.2926C>T (p.Arg976Trp) c.2971C>T (p.Arg991Trp) c.2836C>T (p.Arg946Trp) c.2968C>T (p.Arg990Trp) c.2833C>T (p.Arg945Trp) n.3129C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71569884C= | CA1260103694 | DYSF | c.301C= (p.Arg101=) c.2875C= (p.Arg959=) c.2929C= (p.Arg977=) c.2878C= (p.Arg960=) c.2926C= (p.Arg976=) c.2971C= (p.Arg991=) c.2836C= (p.Arg946=) c.2968C= (p.Arg990=) c.2833C= (p.Arg945=) n.3129C= | dbSNP |