Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32365175G>C | CA10378832 | DMD | c.4870C>G (p.Gln1624Glu) c.838C>G (p.Gln280Glu) c.4858C>G (p.Gln1620Glu) c.118C>G (p.Gln40Glu) c.94-465C>G (n.94-465C>G) n.336-148112C>G c.4846C>G (p.Gln1616Glu) c.4501C>G (p.Gln1501Glu) c.847C>G (p.Gln283Glu) c.4741C>G (p.Gln1581Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32365175G>A | CA10583946 | DMD | c.4870C>T (p.Gln1624Ter) c.838C>T (p.Gln280Ter) c.4858C>T (p.Gln1620Ter) c.118C>T (p.Gln40Ter) c.94-465C>T (n.94-465C>T) n.336-148112C>T c.4846C>T (p.Gln1616Ter) c.4501C>T (p.Gln1501Ter) c.847C>T (p.Gln283Ter) c.4741C>T (p.Gln1581Ter) | ClinVar dbSNP |