| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32287614del | CA16616672 | DMD | c.1051del (p.Val351TrpfsTer4) c.6205del (p.Val2069TrpfsTer4) c.2173del (p.Val725TrpfsTer4) c.6193del (p.Val2065TrpfsTer4) n.336-70551del c.6181del (p.Val2061TrpfsTer4) c.5836del (p.Val1946TrpfsTer4) c.2182del (p.Val728TrpfsTer4) c.6076del (p.Val2026TrpfsTer4) c.6067del (p.Val2023TrpfsTer4) c.6082del (p.Val2028TrpfsTer4) c.379del (p.Val127TrpfsTer4) | ClinVar dbSNP |
| X | g.32287614C= | CA3065189116 | DMD | c.1051G= (p.Val351=) c.6205G= (p.Val2069=) c.2173G= (p.Val725=) c.6193G= (p.Val2065=) n.336-70551G= c.6181G= (p.Val2061=) c.5836G= (p.Val1946=) c.2182G= (p.Val728=) c.6076G= (p.Val2026=) c.6067G= (p.Val2023=) c.6082G= (p.Val2028=) c.379G= (p.Val127=) | dbSNP dbSNP |