| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31496892G>A | CA267163 | DMD | c.3289C>T (p.Gln1097Ter) c.1063C>T (p.Gln355Ter) n.1908C>T n.1935C>T c.298C>T (p.Gln100Ter) c.8443C>T (p.Gln2815Ter) c.4411C>T (p.Gln1471Ter) n.2104C>T c.256C>T (p.Gln86Ter) c.1531C>T (p.Gln511Ter) c.8431C>T (p.Gln2811Ter) n.500C>T c.8428C>T (p.Gln2810Ter) c.8440C>T (p.Gln2814Ter) c.8419C>T (p.Gln2807Ter) c.8074C>T (p.Gln2692Ter) c.4420C>T (p.Gln1474Ter) c.8314C>T (p.Gln2772Ter) c.8305C>T (p.Gln2769Ter) c.8320C>T (p.Gln2774Ter) c.2617C>T (p.Gln873Ter) | ClinVar dbSNP |
| X | g.31496892G>T | CA412655579 | DMD | c.3289C>A (p.Gln1097Lys) c.1063C>A (p.Gln355Lys) n.1908C>A n.1935C>A c.298C>A (p.Gln100Lys) c.8443C>A (p.Gln2815Lys) c.4411C>A (p.Gln1471Lys) n.2104C>A c.256C>A (p.Gln86Lys) c.1531C>A (p.Gln511Lys) c.8431C>A (p.Gln2811Lys) n.500C>A c.8428C>A (p.Gln2810Lys) c.8440C>A (p.Gln2814Lys) c.8419C>A (p.Gln2807Lys) c.8074C>A (p.Gln2692Lys) c.4420C>A (p.Gln1474Lys) c.8314C>A (p.Gln2772Lys) c.8305C>A (p.Gln2769Lys) c.8320C>A (p.Gln2774Lys) c.2617C>A (p.Gln873Lys) | dbSNP |