| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32565742C>G | CA10379679 | DMD | n.2159G>C c.1928G>C (p.Trp643Ser) c.1952G>C (p.Trp651Ser) c.1940G>C (p.Trp647Ser) c.94-200543G>C (n.94-200543G>C) c.94-201032G>C (n.94-201032G>C) n.336-348679G>C c.1583G>C (p.Trp528Ser) c.1823G>C (p.Trp608Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32565742C>T | CA273100 | DMD | n.2159G>A c.1928G>A (p.Trp643Ter) c.1952G>A (p.Trp651Ter) c.1940G>A (p.Trp647Ter) c.94-200543G>A (n.94-200543G>A) c.94-201032G>A (n.94-201032G>A) n.336-348679G>A c.1583G>A (p.Trp528Ter) c.1823G>A (p.Trp608Ter) | ClinVar dbSNP |