| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32545310G>C | CA412668606 | DMD | n.2224C>G c.1993C>G (p.Gln665Glu) c.2017C>G (p.Gln673Glu) c.2005C>G (p.Gln669Glu) c.94-180111C>G (n.94-180111C>G) c.94-180600C>G (n.94-180600C>G) n.336-328247C>G c.1648C>G (p.Gln550Glu) c.1888C>G (p.Gln630Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.32545310G>A | CA341037 | DMD | n.2224C>T c.1993C>T (p.Gln665Ter) c.2017C>T (p.Gln673Ter) c.2005C>T (p.Gln669Ter) c.94-180111C>T (n.94-180111C>T) c.94-180600C>T (n.94-180600C>T) n.336-328247C>T c.1648C>T (p.Gln550Ter) c.1888C>T (p.Gln630Ter) | ClinVar dbSNP |