| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31875304T>C | CA10378362 | DMD | c.1828A>G (p.Lys610Glu) c.-399A>G (n.-399A>G) n.643A>G n.565A>G n.474A>G c.6982A>G (p.Lys2328Glu) c.2950A>G (p.Lys984Glu) c.70A>G (p.Lys24Glu) c.6970A>G (p.Lys2324Glu) c.6967A>G (p.Lys2323Glu) c.6979A>G (p.Lys2327Glu) c.6958A>G (p.Lys2320Glu) c.6613A>G (p.Lys2205Glu) c.2959A>G (p.Lys987Glu) c.6853A>G (p.Lys2285Glu) c.6844A>G (p.Lys2282Glu) c.6859A>G (p.Lys2287Glu) c.1156A>G (p.Lys386Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31875304T>A | CA275285 | DMD | c.1828A>T (p.Lys610Ter) c.-399A>T (n.-399A>T) n.643A>T n.565A>T n.474A>T c.6982A>T (p.Lys2328Ter) c.2950A>T (p.Lys984Ter) c.70A>T (p.Lys24Ter) c.6970A>T (p.Lys2324Ter) c.6967A>T (p.Lys2323Ter) c.6979A>T (p.Lys2327Ter) c.6958A>T (p.Lys2320Ter) c.6613A>T (p.Lys2205Ter) c.2959A>T (p.Lys987Ter) c.6853A>T (p.Lys2285Ter) c.6844A>T (p.Lys2282Ter) c.6859A>T (p.Lys2287Ter) c.1156A>T (p.Lys386Ter) | ClinVar dbSNP |