| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71590212T>A | CA1706606 | DYSF | c.870T>A (p.Tyr290Ter) c.87T>A (p.Tyr29Ter) c.3444T>A (p.Tyr1148Ter) c.3498T>A (p.Tyr1166Ter) c.3447T>A (p.Tyr1149Ter) c.3495T>A (p.Tyr1165Ter) c.3540T>A (p.Tyr1180Ter) c.3405T>A (p.Tyr1135Ter) c.3537T>A (p.Tyr1179Ter) n.272T>A n.329T>A n.165T>A c.3402T>A (p.Tyr1134Ter) n.3698T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71590212T>C | CA1706605 | DYSF | c.870T>C (p.Tyr290=) c.87T>C (p.Tyr29=) c.3444T>C (p.Tyr1148=) c.3498T>C (p.Tyr1166=) c.3447T>C (p.Tyr1149=) c.3495T>C (p.Tyr1165=) c.3540T>C (p.Tyr1180=) c.3405T>C (p.Tyr1135=) c.3537T>C (p.Tyr1179=) n.272T>C n.329T>C n.165T>C c.3402T>C (p.Tyr1134=) n.3698T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71590212T= | CA1260114348 | DYSF | c.870T= (p.Tyr290=) c.87T= (p.Tyr29=) c.3444T= (p.Tyr1148=) c.3498T= (p.Tyr1166=) c.3447T= (p.Tyr1149=) c.3495T= (p.Tyr1165=) c.3540T= (p.Tyr1180=) c.3405T= (p.Tyr1135=) c.3537T= (p.Tyr1179=) n.272T= n.329T= n.165T= c.3402T= (p.Tyr1134=) n.3698T= | dbSNP |