| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32380549T>A | CA233559 | DMD | c.4806A>T (p.Gly1602=) c.774A>T (p.Gly258=) c.4794A>T (p.Gly1598=) c.94-15350A>T (n.94-15350A>T) c.94-15839A>T (n.94-15839A>T) n.336-163486A>T c.4782A>T (p.Gly1594=) c.4437A>T (p.Gly1479=) c.783A>T (p.Gly261=) c.4677A>T (p.Gly1559=) | ClinVar dbSNP |
| X | g.32380549T>C | CA515714853 | DMD | c.4806A>G (p.Gly1602=) c.774A>G (p.Gly258=) c.4794A>G (p.Gly1598=) c.94-15350A>G (n.94-15350A>G) c.94-15839A>G (n.94-15839A>G) n.336-163486A>G c.4782A>G (p.Gly1594=) c.4437A>G (p.Gly1479=) c.783A>G (p.Gly261=) c.4677A>G (p.Gly1559=) | ClinVar dbSNP |
| X | g.32380549T= | CA2422776736 | DMD | c.4806A= (p.Gly1602=) c.774A= (p.Gly258=) c.4794A= (p.Gly1598=) c.94-15350A= (n.94-15350A=) c.94-15839A= (n.94-15839A=) n.336-163486A= c.4782A= (p.Gly1594=) c.4437A= (p.Gly1479=) c.783A= (p.Gly261=) c.4677A= (p.Gly1559=) | dbSNP |