| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32365187C>G | CA412672583 | DMD | c.4858G>C (p.Glu1620Gln) c.826G>C (p.Glu276Gln) c.4846G>C (p.Glu1616Gln) c.106G>C (p.Glu36Gln) c.94-477G>C (n.94-477G>C) n.336-148124G>C c.4834G>C (p.Glu1612Gln) c.4489G>C (p.Glu1497Gln) c.835G>C (p.Glu279Gln) c.4729G>C (p.Glu1577Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.32365187C>A | CA16616490 | DMD | c.4858G>T (p.Glu1620Ter) c.826G>T (p.Glu276Ter) c.4846G>T (p.Glu1616Ter) c.106G>T (p.Glu36Ter) c.94-477G>T (n.94-477G>T) n.336-148124G>T c.4834G>T (p.Glu1612Ter) c.4489G>T (p.Glu1497Ter) c.835G>T (p.Glu279Ter) c.4729G>T (p.Glu1577Ter) | ClinVar dbSNP |
| X | g.32365187C= | CA2422770164 | DMD | c.4858G= (p.Glu1620=) c.826G= (p.Glu276=) c.4846G= (p.Glu1616=) c.106G= (p.Glu36=) c.94-477G= (n.94-477G=) n.336-148124G= c.4834G= (p.Glu1612=) c.4489G= (p.Glu1497=) c.835G= (p.Glu279=) c.4729G= (p.Glu1577=) | dbSNP |