| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31323625G>T | CA341076 | DMD | c.4043C>A (p.Ser1348Ter) c.1817C>A (p.Ser606Ter) n.296C>A n.2689C>A c.1052C>A (p.Ser351Ter) c.9197C>A (p.Ser3066Ter) c.5165C>A (p.Ser1722Ter) n.2858C>A c.1010C>A (p.Ser337Ter) c.2285C>A (p.Ser762Ter) c.9185C>A (p.Ser3062Ter) n.216C>A c.9182C>A (p.Ser3061Ter) c.9194C>A (p.Ser3065Ter) n.6C>A c.9173C>A (p.Ser3058Ter) c.8828C>A (p.Ser2943Ter) c.5174C>A (p.Ser1725Ter) c.9068C>A (p.Ser3023Ter) c.9059C>A (p.Ser3020Ter) c.9074C>A (p.Ser3025Ter) c.3371C>A (p.Ser1124Ter) | ClinVar dbSNP |
| X | g.31323625G>A | CA412651649 | DMD | c.4043C>T (p.Ser1348Leu) c.1817C>T (p.Ser606Leu) n.296C>T n.2689C>T c.1052C>T (p.Ser351Leu) c.9197C>T (p.Ser3066Leu) c.5165C>T (p.Ser1722Leu) n.2858C>T c.1010C>T (p.Ser337Leu) c.2285C>T (p.Ser762Leu) c.9185C>T (p.Ser3062Leu) n.216C>T c.9182C>T (p.Ser3061Leu) c.9194C>T (p.Ser3065Leu) n.6C>T c.9173C>T (p.Ser3058Leu) c.8828C>T (p.Ser2943Leu) c.5174C>T (p.Ser1725Leu) c.9068C>T (p.Ser3023Leu) c.9059C>T (p.Ser3020Leu) c.9074C>T (p.Ser3025Leu) c.3371C>T (p.Ser1124Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |