| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71570704G>A | CA222152 | DYSF | c.563G>A (p.Arg188His) c.3137G>A (p.Arg1046His) c.3191G>A (p.Arg1064His) c.3140G>A (p.Arg1047His) c.3188G>A (p.Arg1063His) c.3233G>A (p.Arg1078His) c.3098G>A (p.Arg1033His) c.3230G>A (p.Arg1077His) n.303G>A c.3095G>A (p.Arg1032His) n.3391G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71570704G= | CA1260104138 | DYSF | c.563G= (p.Arg188=) c.3137G= (p.Arg1046=) c.3191G= (p.Arg1064=) c.3140G= (p.Arg1047=) c.3188G= (p.Arg1063=) c.3233G= (p.Arg1078=) c.3098G= (p.Arg1033=) c.3230G= (p.Arg1077=) n.303G= c.3095G= (p.Arg1032=) n.3391G= | dbSNP |