| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71570300G>C | CA347216658 | DYSF | c.423G>C (p.Trp141Cys) c.2997G>C (p.Trp999Cys) c.3051G>C (p.Trp1017Cys) c.3000G>C (p.Trp1000Cys) c.3048G>C (p.Trp1016Cys) c.3093G>C (p.Trp1031Cys) c.2958G>C (p.Trp986Cys) c.3090G>C (p.Trp1030Cys) n.163G>C c.2955G>C (p.Trp985Cys) n.3251G>C | dbSNP |
| 2 | g.71570300G>T | CA222147 | DYSF | c.423G>T (p.Trp141Cys) c.2997G>T (p.Trp999Cys) c.3051G>T (p.Trp1017Cys) c.3000G>T (p.Trp1000Cys) c.3048G>T (p.Trp1016Cys) c.3093G>T (p.Trp1031Cys) c.2958G>T (p.Trp986Cys) c.3090G>T (p.Trp1030Cys) n.163G>T c.2955G>T (p.Trp985Cys) n.3251G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71570300G= | CA1260103899 | DYSF | c.423G= (p.Trp141=) c.2997G= (p.Trp999=) c.3051G= (p.Trp1017=) c.3000G= (p.Trp1000=) c.3048G= (p.Trp1016=) c.3093G= (p.Trp1031=) c.2958G= (p.Trp986=) c.3090G= (p.Trp1030=) n.163G= c.2955G= (p.Trp985=) n.3251G= | dbSNP |
| 2 | g.71570300G>A | CA347216656 | DYSF | c.423G>A (p.Trp141Ter) c.2997G>A (p.Trp999Ter) c.3051G>A (p.Trp1017Ter) c.3000G>A (p.Trp1000Ter) c.3048G>A (p.Trp1016Ter) c.3093G>A (p.Trp1031Ter) c.2958G>A (p.Trp986Ter) c.3090G>A (p.Trp1030Ter) n.163G>A c.2955G>A (p.Trp985Ter) n.3251G>A | ClinVar dbSNP |