| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32518024A>T | CA16616687 | DMD | n.2483T>A c.2252T>A (p.Leu751Ter) c.2276T>A (p.Leu759Ter) c.2264T>A (p.Leu755Ter) c.94-152825T>A (n.94-152825T>A) c.94-153314T>A (n.94-153314T>A) n.336-300961T>A c.1907T>A (p.Leu636Ter) c.2147T>A (p.Leu716Ter) | ClinVar dbSNP |
| X | g.32518024A>C | CA412663700 | DMD | n.2483T>G c.2252T>G (p.Leu751Ter) c.2276T>G (p.Leu759Ter) c.2264T>G (p.Leu755Ter) c.94-152825T>G (n.94-152825T>G) c.94-153314T>G (n.94-153314T>G) n.336-300961T>G c.1907T>G (p.Leu636Ter) c.2147T>G (p.Leu716Ter) | ClinVar dbSNP |