| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31478995G>A | CA275322 | DMD | c.3502C>T (p.Gln1168Ter) c.1276C>T (p.Gln426Ter) n.2121C>T n.2148C>T c.511C>T (p.Gln171Ter) c.8656C>T (p.Gln2886Ter) c.4624C>T (p.Gln1542Ter) n.2317C>T c.469C>T (p.Gln157Ter) c.1744C>T (p.Gln582Ter) c.8644C>T (p.Gln2882Ter) n.713C>T c.8641C>T (p.Gln2881Ter) c.8653C>T (p.Gln2885Ter) c.8632C>T (p.Gln2878Ter) c.8287C>T (p.Gln2763Ter) c.4633C>T (p.Gln1545Ter) c.8527C>T (p.Gln2843Ter) c.8518C>T (p.Gln2840Ter) c.8533C>T (p.Gln2845Ter) c.2830C>T (p.Gln944Ter) | ClinVar dbSNP |
| X | g.31478995G>C | CA10378022 | DMD | c.3502C>G (p.Gln1168Glu) c.1276C>G (p.Gln426Glu) n.2121C>G n.2148C>G c.511C>G (p.Gln171Glu) c.8656C>G (p.Gln2886Glu) c.4624C>G (p.Gln1542Glu) n.2317C>G c.469C>G (p.Gln157Glu) c.1744C>G (p.Gln582Glu) c.8644C>G (p.Gln2882Glu) n.713C>G c.8641C>G (p.Gln2881Glu) c.8653C>G (p.Gln2885Glu) c.8632C>G (p.Gln2878Glu) c.8287C>G (p.Gln2763Glu) c.4633C>G (p.Gln1545Glu) c.8527C>G (p.Gln2843Glu) c.8518C>G (p.Gln2840Glu) c.8533C>G (p.Gln2845Glu) c.2830C>G (p.Gln944Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |