| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32518098C>G | CA412664052 | DMD | n.2409G>C c.2178G>C (p.Trp726Cys) c.2202G>C (p.Trp734Cys) c.2190G>C (p.Trp730Cys) c.94-152899G>C (n.94-152899G>C) c.94-153388G>C (n.94-153388G>C) n.336-301035G>C c.1833G>C (p.Trp611Cys) c.2073G>C (p.Trp691Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32518098C>T | CA16616508 | DMD | n.2409G>A c.2178G>A (p.Trp726Ter) c.2202G>A (p.Trp734Ter) c.2190G>A (p.Trp730Ter) c.94-152899G>A (n.94-152899G>A) c.94-153388G>A (n.94-153388G>A) n.336-301035G>A c.1833G>A (p.Trp611Ter) c.2073G>A (p.Trp691Ter) | ClinVar dbSNP |