| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71600724G>A | CA1706705 | DYSF | c.1151G>A (p.Arg384His) c.368G>A (p.Arg123His) c.3725G>A (p.Arg1242His) c.3779G>A (p.Arg1260His) c.3728G>A (p.Arg1243His) c.3776G>A (p.Arg1259His) c.3821G>A (p.Arg1274His) c.3686G>A (p.Arg1229His) c.3818G>A (p.Arg1273His) n.553G>A n.610G>A n.446G>A c.3683G>A (p.Arg1228His) n.3979G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.71600724G= | CA1260119312 | DYSF | c.1151G= (p.Arg384=) c.368G= (p.Arg123=) c.3725G= (p.Arg1242=) c.3779G= (p.Arg1260=) c.3728G= (p.Arg1243=) c.3776G= (p.Arg1259=) c.3821G= (p.Arg1274=) c.3686G= (p.Arg1229=) c.3818G= (p.Arg1273=) n.553G= n.610G= n.446G= c.3683G= (p.Arg1228=) n.3979G= | dbSNP |
| 2 | g.71600724G>C | CA347224904 | DYSF | c.1151G>C (p.Arg384Pro) c.368G>C (p.Arg123Pro) c.3725G>C (p.Arg1242Pro) c.3779G>C (p.Arg1260Pro) c.3728G>C (p.Arg1243Pro) c.3776G>C (p.Arg1259Pro) c.3821G>C (p.Arg1274Pro) c.3686G>C (p.Arg1229Pro) c.3818G>C (p.Arg1273Pro) n.553G>C n.610G>C n.446G>C c.3683G>C (p.Arg1228Pro) n.3979G>C | dbSNP gnomAD v4 |