| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32343174A>T | CA412665750 | DMD | c.545T>A (p.Leu182Ter) c.5699T>A (p.Leu1900Ter) c.1667T>A (p.Leu556Ter) c.5687T>A (p.Leu1896Ter) n.336-126111T>A c.356T>A (p.Leu119Ter) c.5675T>A (p.Leu1892Ter) c.5330T>A (p.Leu1777Ter) c.1676T>A (p.Leu559Ter) c.5570T>A (p.Leu1857Ter) c.5561T>A (p.Leu1854Ter) c.5576T>A (p.Leu1859Ter) | ClinVar dbSNP |
| X | g.32343174A>C | CA16043588 | DMD | c.545T>G (p.Leu182Ter) c.5699T>G (p.Leu1900Ter) c.1667T>G (p.Leu556Ter) c.5687T>G (p.Leu1896Ter) n.336-126111T>G c.356T>G (p.Leu119Ter) c.5675T>G (p.Leu1892Ter) c.5330T>G (p.Leu1777Ter) c.1676T>G (p.Leu559Ter) c.5570T>G (p.Leu1857Ter) c.5561T>G (p.Leu1854Ter) c.5576T>G (p.Leu1859Ter) | ClinVar dbSNP |
| X | g.32343174A>G | CA412665742 | DMD | c.545T>C (p.Leu182Ser) c.5699T>C (p.Leu1900Ser) c.1667T>C (p.Leu556Ser) c.5687T>C (p.Leu1896Ser) n.336-126111T>C c.356T>C (p.Leu119Ser) c.5675T>C (p.Leu1892Ser) c.5330T>C (p.Leu1777Ser) c.1676T>C (p.Leu559Ser) c.5570T>C (p.Leu1857Ser) c.5561T>C (p.Leu1854Ser) c.5576T>C (p.Leu1859Ser) | dbSNP |
| X | g.32343174A= | CA2422760788 | DMD | c.545T= (p.Leu182=) c.5699T= (p.Leu1900=) c.1667T= (p.Leu556=) c.5687T= (p.Leu1896=) n.336-126111T= c.356T= (p.Leu119=) c.5675T= (p.Leu1892=) c.5330T= (p.Leu1777=) c.1676T= (p.Leu559=) c.5570T= (p.Leu1857=) c.5561T= (p.Leu1854=) c.5576T= (p.Leu1859=) | dbSNP |