| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31206610A>G | CA16608424 | DMD | c.4467T>C (p.Cys1489=) c.417T>C (p.Cys139=) n.419T>C c.2241T>C (p.Cys747=) n.1138T>C n.720T>C n.1139T>C n.3113T>C c.1476T>C (p.Cys492=) c.9621T>C (p.Cys3207=) c.5589T>C (p.Cys1863=) c.294T>C (p.Cys98=) c.360T>C (p.Cys120=) n.551T>C c.1434T>C (p.Cys478=) c.2709T>C (p.Cys903=) c.9609T>C (p.Cys3203=) c.9606T>C (p.Cys3202=) c.9618T>C (p.Cys3206=) c.9597T>C (p.Cys3199=) c.9252T>C (p.Cys3084=) c.5598T>C (p.Cys1866=) c.9492T>C (p.Cys3164=) c.9483T>C (p.Cys3161=) c.9498T>C (p.Cys3166=) c.3795T>C (p.Cys1265=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31206610A>T | CA16616655 | DMD | c.4467T>A (p.Cys1489Ter) c.417T>A (p.Cys139Ter) n.419T>A c.2241T>A (p.Cys747Ter) n.1138T>A n.720T>A n.1139T>A n.3113T>A c.1476T>A (p.Cys492Ter) c.9621T>A (p.Cys3207Ter) c.5589T>A (p.Cys1863Ter) c.294T>A (p.Cys98Ter) c.360T>A (p.Cys120Ter) n.551T>A c.1434T>A (p.Cys478Ter) c.2709T>A (p.Cys903Ter) c.9609T>A (p.Cys3203Ter) c.9606T>A (p.Cys3202Ter) c.9618T>A (p.Cys3206Ter) c.9597T>A (p.Cys3199Ter) c.9252T>A (p.Cys3084Ter) c.5598T>A (p.Cys1866Ter) c.9492T>A (p.Cys3164Ter) c.9483T>A (p.Cys3161Ter) c.9498T>A (p.Cys3166Ter) c.3795T>A (p.Cys1265Ter) | ClinVar dbSNP |