| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31478129G>A | CA16616658 | DMD | c.3760C>T (p.Gln1254Ter) c.1534C>T (p.Gln512Ter) n.2379C>T n.2406C>T c.769C>T (p.Gln257Ter) c.8914C>T (p.Gln2972Ter) c.4882C>T (p.Gln1628Ter) n.2575C>T c.727C>T (p.Gln243Ter) c.2002C>T (p.Gln668Ter) c.8902C>T (p.Gln2968Ter) c.8899C>T (p.Gln2967Ter) c.8911C>T (p.Gln2971Ter) c.8890C>T (p.Gln2964Ter) c.8545C>T (p.Gln2849Ter) c.4891C>T (p.Gln1631Ter) c.8785C>T (p.Gln2929Ter) c.8776C>T (p.Gln2926Ter) c.8791C>T (p.Gln2931Ter) c.3088C>T (p.Gln1030Ter) | ClinVar dbSNP |
| X | g.31478129G= | CA2422446044 | DMD | c.3760C= (p.Gln1254=) c.1534C= (p.Gln512=) n.2379C= n.2406C= c.769C= (p.Gln257=) c.8914C= (p.Gln2972=) c.4882C= (p.Gln1628=) n.2575C= c.727C= (p.Gln243=) c.2002C= (p.Gln668=) c.8902C= (p.Gln2968=) c.8899C= (p.Gln2967=) c.8911C= (p.Gln2971=) c.8890C= (p.Gln2964=) c.8545C= (p.Gln2849=) c.4891C= (p.Gln1631=) c.8785C= (p.Gln2929=) c.8776C= (p.Gln2926=) c.8791C= (p.Gln2931=) c.3088C= (p.Gln1030=) | dbSNP |