| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32501818T>C | CA341058 | DMD | n.2524A>G c.2317A>G (p.Lys773Glu) c.2305A>G (p.Lys769Glu) c.94-136619A>G (n.94-136619A>G) c.94-137108A>G (n.94-137108A>G) n.336-284755A>G c.2293A>G (p.Lys765Glu) c.1948A>G (p.Lys650Glu) c.2188A>G (p.Lys730Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.32501818T>A | CA412673681 | DMD | n.2524A>T c.2317A>T (p.Lys773Ter) c.2305A>T (p.Lys769Ter) c.94-136619A>T (n.94-136619A>T) c.94-137108A>T (n.94-137108A>T) n.336-284755A>T c.2293A>T (p.Lys765Ter) c.1948A>T (p.Lys650Ter) c.2188A>T (p.Lys730Ter) | ClinVar dbSNP |