| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31774100C>A | CA341073 | DMD | c.2248G>T (p.Glu750Ter) c.22G>T (p.Glu8Ter) n.1063G>T n.985G>T n.894G>T c.7402G>T (p.Glu2468Ter) c.3370G>T (p.Glu1124Ter) c.391G>T (p.Glu131Ter) c.490G>T (p.Glu164Ter) c.7390G>T (p.Glu2464Ter) c.159G>T (n.159G>T) c.7387G>T (p.Glu2463Ter) c.7399G>T (p.Glu2467Ter) c.7378G>T (p.Glu2460Ter) c.7033G>T (p.Glu2345Ter) c.3379G>T (p.Glu1127Ter) c.7273G>T (p.Glu2425Ter) c.7264G>T (p.Glu2422Ter) c.7279G>T (p.Glu2427Ter) c.1576G>T (p.Glu526Ter) | ClinVar dbSNP |
| X | g.31774100C>G | CA412659005 | DMD | c.2248G>C (p.Glu750Gln) c.22G>C (p.Glu8Gln) n.1063G>C n.985G>C n.894G>C c.7402G>C (p.Glu2468Gln) c.3370G>C (p.Glu1124Gln) c.391G>C (p.Glu131Gln) c.490G>C (p.Glu164Gln) c.7390G>C (p.Glu2464Gln) c.159G>C (n.159G>C) c.7387G>C (p.Glu2463Gln) c.7399G>C (p.Glu2467Gln) c.7378G>C (p.Glu2460Gln) c.7033G>C (p.Glu2345Gln) c.3379G>C (p.Glu1127Gln) c.7273G>C (p.Glu2425Gln) c.7264G>C (p.Glu2422Gln) c.7279G>C (p.Glu2427Gln) c.1576G>C (p.Glu526Gln) | ClinVar dbSNP |