| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71570680G>A | CA1706448 | DYSF | c.539G>A (p.Arg180Gln) c.3113G>A (p.Arg1038Gln) c.3167G>A (p.Arg1056Gln) c.3116G>A (p.Arg1039Gln) c.3164G>A (p.Arg1055Gln) c.3209G>A (p.Arg1070Gln) c.3074G>A (p.Arg1025Gln) c.3206G>A (p.Arg1069Gln) n.279G>A c.3071G>A (p.Arg1024Gln) n.3367G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.71570680G>C | CA347217058 | DYSF | c.539G>C (p.Arg180Pro) c.3113G>C (p.Arg1038Pro) c.3167G>C (p.Arg1056Pro) c.3116G>C (p.Arg1039Pro) c.3164G>C (p.Arg1055Pro) c.3209G>C (p.Arg1070Pro) c.3074G>C (p.Arg1025Pro) c.3206G>C (p.Arg1069Pro) n.279G>C c.3071G>C (p.Arg1024Pro) n.3367G>C | ClinVar dbSNP gnomAD v4 |