| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31204005dup | CA267197 | DMD | c.4613dup (p.Ser1539GlnfsTer2) c.563dup (p.Ser189GlnfsTer2) n.565dup c.2387dup (p.Ser797GlnfsTer2) n.1284dup n.866dup n.1285dup n.3259dup c.1622dup (p.Ser542GlnfsTer2) c.9767dup (p.Ser3257GlnfsTer2) c.5735dup (p.Ser1913GlnfsTer2) c.440dup (p.Ser148GlnfsTer2) c.506dup (p.Ser170GlnfsTer2) n.697dup c.1580dup (p.Ser528GlnfsTer2) c.2855dup (p.Ser953GlnfsTer2) c.9755dup (p.Ser3253GlnfsTer2) c.137dup (p.Ser47GlnfsTer2) c.9752dup (p.Ser3252GlnfsTer2) c.9764dup (p.Ser3256GlnfsTer2) c.9743dup (p.Ser3249GlnfsTer2) c.9398dup (p.Ser3134GlnfsTer2) c.5744dup (p.Ser1916GlnfsTer2) c.9638dup (p.Ser3214GlnfsTer2) c.9629dup (p.Ser3211GlnfsTer2) c.9644dup (p.Ser3216GlnfsTer2) c.3941dup (p.Ser1315GlnfsTer2) | ClinVar dbSNP |
| X | g.31204005del | CA2573158726 | DMD | c.4613del (p.Gly1538AlafsTer27) c.563del (p.Gly188AlafsTer27) n.565del c.2387del (p.Gly796AlafsTer27) n.1284del n.866del n.1285del n.3259del c.1622del (p.Gly541AlafsTer27) c.9767del (p.Gly3256AlafsTer27) c.5735del (p.Gly1912AlafsTer27) c.563del (p.Gly188AlafsTer?) c.440del (p.Gly147AlafsTer27) c.563del (p.Gly188AlafsTer15) c.506del (p.Gly169AlafsTer27) c.2387del (p.Gly796AlafsTer?) c.563del (p.Gly188AlafsTer28) n.697del c.1580del (p.Gly527AlafsTer27) c.2855del (p.Gly952AlafsTer27) c.9755del (p.Gly3252AlafsTer27) c.137del (p.Gly46AlafsTer27) c.9752del (p.Gly3251AlafsTer27) c.9764del (p.Gly3255AlafsTer27) c.9743del (p.Gly3248AlafsTer27) c.9398del (p.Gly3133AlafsTer27) c.5744del (p.Gly1915AlafsTer27) c.9638del (p.Gly3213AlafsTer27) c.9629del (p.Gly3210AlafsTer27) c.9644del (p.Gly3215AlafsTer27) c.9767del (p.Gly3256AlafsTer28) c.3941del (p.Gly1314AlafsTer27) | ClinVar dbSNP |