| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32411763G>A | CA16609178 | DMD | c.4222C>T (p.Gln1408Ter) c.190C>T (p.Gln64Ter) c.4210C>T (p.Gln1404Ter) c.94-46564C>T (n.94-46564C>T) c.94-47053C>T (n.94-47053C>T) n.336-194700C>T c.4198C>T (p.Gln1400Ter) c.3853C>T (p.Gln1285Ter) c.199C>T (p.Gln67Ter) c.4093C>T (p.Gln1365Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.32411763G= | CA2422791669 | DMD | c.4222C= (p.Gln1408=) c.190C= (p.Gln64=) c.4210C= (p.Gln1404=) c.94-46564C= (n.94-46564C=) c.94-47053C= (n.94-47053C=) n.336-194700C= c.4198C= (p.Gln1400=) c.3853C= (p.Gln1285=) c.199C= (p.Gln67=) c.4093C= (p.Gln1365=) | dbSNP |