| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32345999G>A | CA267064 | DMD | c.376C>T (p.Arg126Ter) c.5530C>T (p.Arg1844Ter) c.1498C>T (p.Arg500Ter) c.5518C>T (p.Arg1840Ter) n.336-128936C>T c.187C>T (p.Arg63Ter) c.5506C>T (p.Arg1836Ter) c.5161C>T (p.Arg1721Ter) c.1507C>T (p.Arg503Ter) c.5401C>T (p.Arg1801Ter) c.5448+2407C>T (n.5448+2407C>T) c.5407C>T (p.Arg1803Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.32345999G>T | CA10378661 | DMD | c.376C>A (p.Arg126=) c.5530C>A (p.Arg1844=) c.1498C>A (p.Arg500=) c.5518C>A (p.Arg1840=) n.336-128936C>A c.187C>A (p.Arg63=) c.5506C>A (p.Arg1836=) c.5161C>A (p.Arg1721=) c.1507C>A (p.Arg503=) c.5401C>A (p.Arg1801=) c.5448+2407C>A (n.5448+2407C>A) c.5407C>A (p.Arg1803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |