NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
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rs201217593
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0.00003
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NM_004006.3(DMD):c.1812+1G>A
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rs373286166
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0.00003
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NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
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rs1295935628
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0.00001
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NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
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rs128626249
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0.00001
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NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
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rs398124008
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0.00001
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NM_004006.3(DMD):c.6604del (p.Arg2202fs)
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rs2095369359
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0.00001
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GRCh37/hg19 Xp21.1(chrX:32235149-32459424)
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GRCh37/hg19 Xp21.1(chrX:32466518-32928163)
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GRCh37/hg19 Xp21.1(chrX:32587530-32719171)
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GRCh37/hg19 Xp21.1(chrX:32715977-32867947)x2
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GRCh38/hg38 Xp21.1(chrX:31601428-31727780)x0
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GRCh38/hg38 Xp21.1(chrX:31782226-32088001)x0
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GRCh38/hg38 Xp21.1(chrX:32216792-33041819)x0
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GRCh38/hg38 Xp21.1(chrX:32536377-32771300)x0
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NC_000023.10:g.(31697577_31747779)_(31986532_32235089)del
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NC_000023.10:g.(?_27765013)_(31697703_?)del
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NC_000023.10:g.(?_28807451)_(31241248_?)del
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NC_000023.10:g.(?_31139940)_33229483del
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NC_000023.10:g.(?_31140030)_(33229435_?)del
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NC_000023.10:g.(?_31140036)_(31525580_?)del
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NC_000023.10:g.(?_31140036)_(31525590_?)del
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NC_000023.10:g.(?_31140036)_(31854956_?)del
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NC_000023.10:g.(?_31140036)_(32235190_?)del
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NC_000023.10:g.(?_31140036)_(32519979_?)del
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NC_000023.10:g.(?_31140036)_(33229429_?)del
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NC_000023.10:g.(?_31164388)_(31165655_?)del
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NC_000023.10:g.(?_31164398)_(31986641_?)del
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NC_000023.10:g.(?_31164402)_(31697709_?)del
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NC_000023.10:g.(?_31171146)_(31227760_?)del
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NC_000023.10:g.(?_31196029)_(31525590_?)del
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NC_000023.10:g.(?_31196766)_(31229031_?)del
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NC_000023.10:g.(?_31219364)_(33229429_?)del
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NC_000023.10:g.(?_31222058)_(31222255_?)del
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NC_000023.10:g.(?_31222058)_(31227836_?)del
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NC_000023.10:g.(?_31222058)_(31279781_?)del
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NC_000023.10:g.(?_31222068)_(31854946_?)del
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NC_000023.10:g.(?_31222078)_(31241238_?)dup
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NC_000023.10:g.(?_31224679)_(31382270_?)dup
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NC_000023.10:g.(?_31227595)_(31627738_?)dup
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NC_000023.10:g.(?_31227595)_(33229429_?)del
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NC_000023.10:g.(?_31241144)_(31279781_?)del
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NC_000023.10:g.(?_31241144)_(31525590_?)dup
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NC_000023.10:g.(?_31241144)_(33229429_?)del
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NC_000023.10:g.(?_31279052)_(31279153_?)del
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NC_000023.10:g.(?_31279052)_(31366771_?)del
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NC_000023.10:g.(?_31279052)_(31497240_?)del
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NC_000023.10:g.(?_31279052)_(31525590_?)dup
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NC_000023.10:g.(?_31279052)_(31747885_?)dup
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NC_000023.10:g.(?_31279052)_(31854956_?)del
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NC_000023.10:g.(?_31332523)_(31462764_?)del
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NC_000023.10:g.(?_31332523)_(31462764_?)dup
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NC_000023.10:g.(?_31332523)_(31497240_?)del
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NC_000023.10:g.(?_31332523)_(31525580_?)del
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NC_000023.10:g.(?_31332523)_(31525580_?)dup
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NC_000023.10:g.(?_31332523)_(31526374_?)dup
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NC_000023.10:g.(?_31332523)_(31627738_?)dup
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NC_000023.10:g.(?_31341695)_(31341795_?)del
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NC_000023.10:g.(?_31341695)_(31341795_?)dup
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NC_000023.10:g.(?_31341695)_(31525590_?)dup
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NC_000023.10:g.(?_31341695)_(31697723_?)dup
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NC_000023.10:g.(?_31341695)_(32305838_?)del
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NC_000023.10:g.(?_31341705)_(31341785_?)dup
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NC_000023.10:g.(?_31341705)_(31792319_?)del
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NC_000023.10:g.(?_31366653)_(31366771_?)dup
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NC_000023.10:g.(?_31366653)_(31747885_?)dup
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NC_000023.10:g.(?_31382270)_(31950364_?)dup
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NC_000023.10:g.(?_31462578)_(31515081_?)del
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NC_000023.10:g.(?_31462578)_(31525590_?)del
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NC_000023.10:g.(?_31462578)_(31676281_?)del
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NC_000023.10:g.(?_31462578)_(31747885_?)del
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NC_000023.10:g.(?_31462578)_(31792329_?)del
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NC_000023.10:g.(?_31462578)_(31838220_?)dup
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NC_000023.10:g.(?_31462578)_(31950364_?)del
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NC_000023.10:g.(?_31462578)_(31986651_?)del
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NC_000023.10:g.(?_31462588)_(31462754_?)del
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NC_000023.10:g.(?_31462588)_(31838210_?)dup
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NC_000023.10:g.(?_31462588)_31697713dup
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NC_000023.10:g.(?_31496203)_(31515081_?)del
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NC_000023.10:g.(?_31496203)_(31645999_?)del
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NC_000023.10:g.(?_31496203)_(31697723_?)del
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NC_000023.10:g.(?_31496203)_(31950364_?)del
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NC_000023.10:g.(?_31496213)_(31515071_?)del
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NC_000023.10:g.(?_31496213)_(31526364_?)del
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NC_000023.10:g.(?_31514885)_(31697723_?)dup
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NC_000023.10:g.(?_31514885)_(31986651_?)del
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NC_000023.10:g.(?_31514895)_(31986641_?)del
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NC_000023.10:g.(?_31525378)_(31854956_?)del
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NC_000023.10:g.(?_31525378)_(31986651_?)del
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NC_000023.10:g.(?_31627738)_(31747885_?)del
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NC_000023.10:g.(?_31627738)_(31838220_?)dup
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NC_000023.10:g.(?_31627738)_(31893500_?)del
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NC_000023.10:g.(?_31627738)_(31897527_?)del
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NC_000023.10:g.(?_31627738)_(32235190_?)del
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NC_000023.10:g.(?_31645770)_(31645999_?)del
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NC_000023.10:g.(?_31645770)_(31838220_?)del
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NC_000023.10:g.(?_31645780)_(31645989_?)del
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NC_000023.10:g.(?_31652298)_(31697488_?)del
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NC_000023.10:g.(?_31676087)_(31697723_?)del
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NC_000023.10:g.(?_31676087)_(31747885_?)del
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NC_000023.10:g.(?_31676087)_(31947882_?)del
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NC_000023.10:g.(?_31676087)_(31986651_?)dup
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NC_000023.10:g.(?_31676087)_(32756908_?)del
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NC_000023.10:g.(?_31676097)_(31676271_?)del
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NC_000023.10:g.(?_31676097)_(31893500_?)del
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NC_000023.10:g.(?_31676097)_(31897527_?)del
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NC_000023.10:g.(?_31697472)_(31697723_?)dup
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NC_000023.10:g.(?_31697472)_(31854956_?)del
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NC_000023.10:g.(?_31697472)_(31950364_?)del
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NC_000023.10:g.(?_31697472)_(31950364_?)dup
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NC_000023.10:g.(?_31697482)_(31792319_?)del
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NC_000023.10:g.(?_31697671)_(31852275_?)del
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NC_000023.10:g.(?_31745485)_(31893510_?)del
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NC_000023.10:g.(?_31745485)_(31897527_?)del
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NC_000023.10:g.(?_31745485)_(31950364_?)dup
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NC_000023.10:g.(?_31747728)_(31747885_?)del
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NC_000023.10:g.(?_31747728)_(31747885_?)dup
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NC_000023.10:g.(?_31747728)_(31893510_?)del
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NC_000023.10:g.(?_31747728)_(31893510_?)dup
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NC_000023.10:g.(?_31747728)_(31947882_?)del
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NC_000023.10:g.(?_31747728)_(31986651_?)del
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NC_000023.10:g.(?_31747728)_(32614013_?)dup
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NC_000023.10:g.(?_31747728)_(33229429_?)del
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NC_000023.10:g.(?_31747738)_(32235190_?)del
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NC_000023.10:g.(?_31747792)_(31791091_?)del
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NC_000023.10:g.(?_31786037)_(31893375_?)del
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NC_000023.10:g.(?_31792057)_(31792329_?)del
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NC_000023.10:g.(?_31792057)_(31792329_?)dup
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NC_000023.10:g.(?_31792057)_(31893510_?)del
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NC_000023.10:g.(?_31792057)_(31950364_?)del
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NC_000023.10:g.(?_31792057)_(31986651_?)dup
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NC_000023.10:g.(?_31792057)_(32235200_?)dup
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NC_000023.10:g.(?_31792057)_(32328413_?)del
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NC_000023.10:g.(?_31815232)_(31986493_?)del
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NC_000023.10:g.(?_31815233)_(31986493_?)del
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NC_000023.10:g.(?_31838072)_(31838220_?)dup
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NC_000023.10:g.(?_31838072)_(31854956_?)del
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NC_000023.10:g.(?_31838072)_(31854956_?)dup
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NC_000023.10:g.(?_31838072)_(31893510_?)del
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NC_000023.10:g.(?_31838072)_(31897527_?)del
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NC_000023.10:g.(?_31838072)_(31986651_?)del
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NC_000023.10:g.(?_31838072)_(32235200_?)del
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NC_000023.10:g.(?_31838072)_(32519979_?)del
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NC_000023.10:g.(?_31838072)_(32756908_?)del
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NC_000023.10:g.(?_31838121)_(31962285_?)del
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NC_000023.10:g.(?_31854815)_(31854956_?)del
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NC_000023.10:g.(?_31854815)_(31950364_?)dup
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NC_000023.10:g.(?_31854815)_(31986651_?)del
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NC_000023.10:g.(?_31854815)_(32235200_?)del
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NC_000023.10:g.(?_31854815)_(32591983_?)del
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NC_000023.10:g.(?_31854815)_(32669194_?)del
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NC_000023.10:g.(?_31854815)_(32867957_?)del
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NC_000023.10:g.(?_31854825)_(33229429_?)del
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NC_000023.10:g.(?_31854835)_(31854936_?)del
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NC_000023.10:g.(?_31854917)_(32057181_?)del
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NC_000023.10:g.(?_31893285)_(31947882_?)del
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NC_000023.10:g.(?_31893285)_(32235200_?)del
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NC_000023.10:g.(?_31893285)_(32235200_?)dup
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NC_000023.10:g.(?_31893285)_(32663289_?)del
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NC_000023.10:g.(?_31893295)_(33229429_?)del
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NC_000023.10:g.(?_31947693)_(31950364_?)del
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NC_000023.10:g.(?_31947693)_(31950364_?)dup
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NC_000023.10:g.(?_31947693)_(31986651_?)del
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NC_000023.10:g.(?_31947693)_(31986651_?)dup
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NC_000023.10:g.(?_31947693)_(32669194_?)del
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NC_000023.10:g.(?_31947693)_(32867957_?)del
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NC_000023.10:g.(?_31947853)_(32089139_?)del
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NC_000023.10:g.(?_31983146)_(32328413_?)del
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NC_000023.10:g.(?_31983146)_(32756908_?)del
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NC_000023.10:g.(?_31983146)_(32841967_?)del
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NC_000023.10:g.(?_31986436)_(32867957_?)del
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NC_000023.10:g.(?_32235013)_(32235200_?)dup
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NC_000023.10:g.(?_32235013)_(32328413_?)del
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NC_000023.10:g.(?_32235013)_(32490446_?)dup
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NC_000023.10:g.(?_32235013)_(32563471_?)del
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NC_000023.10:g.(?_32235013)_(32756908_?)del
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NC_000023.10:g.(?_32235013)_(33038337_?)del
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NC_000023.10:g.(?_32235013)_(33038337_?)dup
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NC_000023.10:g.(?_32235013)_(33229429_?)del
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NC_000023.10:g.(?_32235023)_(32328403_?)del
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NC_000023.10:g.(?_32235023)_(32366860_?)del
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NC_000023.10:g.(?_32235023)_(32383326_?)del
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NC_000023.10:g.(?_32235023)_(32430336_?)del
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NC_000023.10:g.(?_32235023)_(32663279_?)del
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NC_000023.10:g.(?_32235023)_(32867947_?)del
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NC_000023.10:g.(?_32235033)_(32398797_?)del
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NC_000023.10:g.(?_32235033)_(32867937_?)del
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NC_000023.10:g.(?_32305626)_(32328413_?)del
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NC_000023.10:g.(?_32305626)_(32361423_?)del
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NC_000023.10:g.(?_32305626)_(32381095_?)dup
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NC_000023.10:g.(?_32305626)_(32383336_?)del
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NC_000023.10:g.(?_32305626)_(32398817_?)del
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NC_000023.10:g.(?_32305626)_(32430050_?)del
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NC_000023.10:g.(?_32305626)_(32509655_?)dup
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NC_000023.10:g.(?_32305626)_(32591983_?)del
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NC_000023.10:g.(?_32305626)_(32614013_?)del
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NC_000023.10:g.(?_32305626)_(32632590_?)del
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NC_000023.10:g.(?_32305626)_(32717430_?)del
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NC_000023.10:g.(?_32305626)_(32867957_?)del
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NC_000023.10:g.(?_32305626)_(33229429_?)del
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NC_000023.10:g.(?_32305636)_(32361413_?)del
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NC_000023.10:g.(?_32305636)_(32398808_?)del
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NC_000023.10:g.(?_32305636)_(32460274_?)del
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NC_000023.10:g.(?_32305636)_(32717420_?)del
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NC_000023.10:g.(?_32305636)_(32867947_?)del
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NC_000023.10:g.(?_32305637)_(33357392_?)del
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NC_000023.10:g.(?_32305646)_(32328393_?)dup
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NC_000023.10:g.(?_32328179)_(32364217_?)del
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NC_000023.10:g.(?_32328179)_(32536268_?)del
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NC_000023.10:g.(?_32328179)_(32632590_?)del
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NC_000023.10:g.(?_32328189)_(32404592_?)del
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NC_000023.10:g.(?_32328189)_(32408308_?)del
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NC_000023.10:g.(?_32328189)_(32503226_?)del
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NC_000023.10:g.(?_32328306)_(32801844_?)del
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NC_000023.10:g.(?_32360197)_(32509655_?)dup
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NC_000023.10:g.(?_32360197)_(32591983_?)del
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NC_000023.10:g.(?_32360197)_(32614013_?)del
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NC_000023.10:g.(?_32360197)_(32663289_?)del
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NC_000023.10:g.(?_32360197)_(32717430_?)del
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NC_000023.10:g.(?_32360197)_(32834777_?)del
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NC_000023.10:g.(?_32360197)_(32841967_?)del
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NC_000023.10:g.(?_32360197)_(32867957_?)del
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NC_000023.10:g.(?_32360197)_(33229429_?)del
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NC_000023.10:g.(?_32360207)_(32404592_?)del
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NC_000023.10:g.(?_32360207)_(32841514_?)del
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NC_000023.10:g.(?_32364040)_(32490446_?)del
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NC_000023.10:g.(?_32366503)_(32591983_?)del
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NC_000023.10:g.(?_32379145)_(32563471_?)del
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NC_000023.10:g.(?_32379145)_(32669194_?)del
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NC_000023.10:g.(?_32379145)_(32827748_?)del
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NC_000023.10:g.(?_32380885)_(32472969_?)del
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NC_000023.10:g.(?_32380885)_(32862997_?)del
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NC_000023.10:g.(?_32380885)_(33229429_?)del
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NC_000023.10:g.(?_32380895)_(32519969_?)del
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NC_000023.10:g.(?_32380895)_(32591973_?)del
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NC_000023.10:g.(?_32380895)_(32632580_?)del
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NC_000023.10:g.(?_32380895)_(32867947_?)del
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NC_000023.10:g.(?_32398607)_(32614013_?)del
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NC_000023.10:g.(?_32398607)_(32867957_?)del
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NC_000023.10:g.(?_32398617)_(32430336_?)del
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NC_000023.10:g.(?_32398617)_(32663279_?)del
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NC_000023.10:g.(?_32404407)_(32408318_?)del
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NC_000023.10:g.(?_32404407)_(32509655_?)del
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NC_000023.10:g.(?_32404407)_(32756908_?)del
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NC_000023.10:g.(?_32404417)_(32663279_?)del
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NC_000023.10:g.(?_32404417)_(32717420_?)dup
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NC_000023.10:g.(?_32407598)_(32519979_?)del
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NC_000023.11:g.(?_31819965)_(31879410_?)del
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|
|
NC_000023.11:g.(?_31819965)_(31929755_?)del
|
|
|
NC_000023.11:g.(?_31819965)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31819965)_(31965029_?)del
|
|
|
NC_000023.11:g.(?_31819965)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31819965)_(32217073_?)del
|
|
|
NC_000023.11:g.(?_31819975)_(31836819_?)del
|
|
|
NC_000023.11:g.(?_31836698)_(31875393_?)del
|
|
|
NC_000023.11:g.(?_31836698)_(31932247_?)del
|
|
|
NC_000023.11:g.(?_31836698)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31836829_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31879410_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31965029_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31968524_?)dup
|
|
|
NC_000023.11:g.(?_31836718)_(31875373_?)del
|
|
|
NC_000023.11:g.(?_31875168)_(31875393_?)del
|
|
|
NC_000023.11:g.(?_31875168)_(31932247_?)del
|
|
|
NC_000023.11:g.(?_31875168)_(31968534_?)del
|
|
|
NC_000023.11:g.(?_31875168)_(33339285_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(31879410_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(32217073_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(32217073_?)dup
|
|
|
NC_000023.11:g.(?_31879410)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31879410)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31929576)_(32217083_?)del
|
|
|
NC_000023.11:g.(?_31929576)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_31929586)_(31929755_?)del
|
|
|
NC_000023.11:g.(?_31929586)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31929586)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31929590)_(31968520_?)del
|
|
|
NC_000023.11:g.(?_31932060)_(31932247_?)del
|
|
|
NC_000023.11:g.(?_31932060)_(31968534_?)del
|
|
|
NC_000023.11:g.(?_31932070)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31965029)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31965029)_(32614463_?)del
|
|
|
NC_000023.11:g.(?_31968329)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31968339)_(31968514_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32217083_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32454852_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32472329_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32501862_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32698018_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32217073_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32217073_?)dup
|
|
|
NC_000023.11:g.(?_32216906)_(32287711_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32442157_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32614463_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32699303_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(33211366_?)del
|
|
|
NC_000023.11:g.(?_32287509)_(32287721_?)del
|
|
|
NC_000023.11:g.(?_32287509)_(32362978_?)del
|
|
|
NC_000023.11:g.(?_32287509)_(32390201_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32287711_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32310286_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32310286_?)dup
|
|
|
NC_000023.11:g.(?_32287519)_(32365209_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32386475_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32287529)_(32310276_?)del
|
|
|
NC_000023.11:g.(?_32310062)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32310072)_(32454842_?)del
|
|
|
NC_000023.11:g.(?_32342080)_(32518151_?)del
|
|
|
NC_000023.11:g.(?_32342090)_(32699303_?)dup
|
|
|
NC_000023.11:g.(?_32342090)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32348386)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_32362768)_(32699313_?)del
|
|
|
NC_000023.11:g.(?_32380500)_(32699303_?)del
|
|
|
NC_000023.11:g.(?_32380500)_(32816650_?)del
|
|
|
NC_000023.11:g.(?_32386290)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32390061)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32411732)_(32573866_?)del
|
|
|
NC_000023.11:g.(?_32411732)_(32614473_?)del
|
|
|
NC_000023.11:g.(?_32411742)_(32472319_?)del
|
|
|
NC_000023.11:g.(?_32411742)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32438221)_(32518151_?)del
|
|
|
NC_000023.11:g.(?_32438221)_(32614473_?)del
|
|
|
NC_000023.11:g.(?_32438221)_(32699313_?)del
|
|
|
NC_000023.11:g.(?_32438221)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32438231)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32438231)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32438231)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32438241)_(32491518_?)del
|
|
|
NC_000023.11:g.(?_32452609)_(32699303_?)del
|
|
|
NC_000023.11:g.(?_32461199)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32461199)_(32844870_?)del
|
|
|
NC_000023.11:g.(?_32461199)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32468488)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32472144)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32472154)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32484899)_(32699313_?)del
|
|
|
NC_000023.11:g.(?_32484899)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32484909)_(32501852_?)del
|
|
|
NC_000023.11:g.(?_32491267)_(32545344_?)del
|
|
|
NC_000023.11:g.(?_32491267)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32501735)_(32501862_?)del
|
|
|
NC_000023.11:g.(?_32501745)_(32501852_?)del
|
|
|
NC_000023.11:g.(?_32517988)_(32518151_?)del
|
|
|
NC_000023.11:g.(?_32517988)_(33339285_?)del
|
|
|
NC_000023.11:g.(?_32517998)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32518008)_(32699293_?)del
|
|
|
NC_000023.11:g.(?_32545139)_(32645172_?)del
|
|
|
NC_000023.11:g.(?_32545149)_(32573856_?)dup
|
|
|
NC_000023.11:g.(?_32545159)_(32849820_?)del
|
|
|
NC_000023.11:g.(?_32565692)_(32626362_?)del
|
|
|
NC_000023.11:g.(?_32573520)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32573520)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32573530)_(32699293_?)del
|
|
|
NC_000023.11:g.(?_32595737)_(32595896_?)del
|
|
|
NC_000023.11:g.(?_32595737)_(32699313_?)del
|
|
|
NC_000023.11:g.(?_32595737)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32595747)_(32595886_?)del
|
|
|
NC_000023.11:g.(?_32595747)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32595757)_(32849820_?)del
|
|
|
NC_000023.11:g.(?_32614283)_(32645172_?)del
|
|
|
NC_000023.11:g.(?_32614283)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32614293)_(32614463_?)dup
|
|
|
NC_000023.11:g.(?_32614293)_(32816650_?)del
|
|
|
NC_000023.11:g.(?_32626362)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32644112)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32644122)_(32644323_?)del
|
|
|
NC_000023.11:g.(?_32644122)_(32645162_?)dup
|
|
|
NC_000023.11:g.(?_32644122)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32644122)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32644132)_(32849820_?)del
|
|
|
NC_000023.11:g.(?_32697850)_(32699313_?)del
|
|
|
NC_000023.11:g.(?_32697850)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32697860)_(32699303_?)dup
|
|
|
NC_000023.11:g.(?_32809473)_(32816660_?)del
|
|
|
NC_000023.11:g.(?_32809473)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32809473)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32809473)_(33020220_?)del
|
|
|
NC_000023.11:g.(?_32809483)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32809483)_(32844870_?)del
|
|
|
NC_000023.11:g.(?_32809483)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32816458)_(32816650_?)dup
|
|
|
NC_000023.11:g.(?_32816458)_(32844870_?)dup
|
|
|
NC_000023.11:g.(?_32816458)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32816458)_(33211312_?)del
|
|
|
NC_000023.11:g.(?_32823275)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32823285)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32844773)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32844773)_(33020210_?)dup
|
|
|
NC_000023.11:g.(?_32849718)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_33174335)_(33211366_?)del
|
|
|
NC_000023.11:g.(?_33211262)_(33211366_?)del
|
|
|
NC_000023.11:g.31444471_31679596dup
|
|
|
NC_000023.11:g.31762447_31872385del
|
|
|
NC_000023.11:g.32545149_32651077dup
|
|
|
NM_000109.4(DMD):c.10530-1dup
|
rs1555998436
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.2(DMD):c.1307_1332-7556del
|
|
|
NM_004006.2(DMD):c.265del
|
rs2078438031
|
|
NM_004006.2(DMD):c.32-?_93+?dup62
|
|
|
NM_004006.2(DMD):c.6251_6290+12981del
|
|
|
NM_004006.2(DMD):c.7661-?_10921+?del
|
|
|
NM_004006.2(DMD):c.94-?_4233+?del
|
|
|
NM_004006.3(DMD):c.10000del (p.Tyr3334fs)
|
rs2148311910
|
|
NM_004006.3(DMD):c.10019G>A (p.Cys3340Tyr)
|
rs104894788
|
|
NM_004006.3(DMD):c.10027dup (p.Ser3343fs)
|
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
NM_004006.3(DMD):c.10051_10067del (p.Lys3351fs)
|
|
|
NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)
|
rs886042875
|
|
NM_004006.3(DMD):c.1006G>T (p.Glu336Ter)
|
rs1057522454
|
|
NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter)
|
rs1181271457
|
|
NM_004006.3(DMD):c.10086+1G>A
|
rs398123828
|
|
NM_004006.3(DMD):c.10086+1G>T
|
rs398123828
|
|
NM_004006.3(DMD):c.10086+2T>C
|
rs2148310866
|
|
NM_004006.3(DMD):c.10087-1G>A
|
rs1602417503
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)
|
rs886043676
|
|
NM_004006.3(DMD):c.10133del (p.Asn3378fs)
|
rs863224975
|
|
NM_004006.3(DMD):c.10135A>T (p.Lys3379Ter)
|
rs2148291755
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004006.3(DMD):c.10155T>G (p.Tyr3385Ter)
|
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10182C>A (p.Tyr3394Ter)
|
rs1602416457
|
|
NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter)
|
rs398123833
|
|
NM_004006.3(DMD):c.10210dup (p.Asp3404fs)
|
rs2040821014
|
|
NM_004006.3(DMD):c.10217del (p.Met3406fs)
|
rs2148290349
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
NM_004006.3(DMD):c.10223+1G>C
|
rs398123834
|
|
NM_004006.3(DMD):c.10223+5G>T
|
rs2148290176
|
|
NM_004006.3(DMD):c.10224-175_10230del
|
rs1556035817
|
|
NM_004006.3(DMD):c.10224-175_10238del
|
rs2040711393
|
|
NM_004006.3(DMD):c.10224-1dup
|
rs1602409174
|
|
NM_004006.3(DMD):c.10224dup (p.Pro3409fs)
|
rs2148280837
|
|
NM_004006.3(DMD):c.10227del (p.Val3410fs)
|
rs2040714340
|
|
NM_004006.3(DMD):c.10227dup (p.Val3410fs)
|
|
|
NM_004006.3(DMD):c.10238del (p.Ile3413fs)
|
rs1556035795
|
|
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
|
rs376745644
|
|
NM_004006.3(DMD):c.10258dup (p.Ser3420fs)
|
rs398123835
|
|
NM_004006.3(DMD):c.10260_10261insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTCCACAAAGCCTCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGCTGGCCAGTAGATTCT (p.Ala3421delinsPhePhePhePhePhePheXaaXaaXaaXaaPheHisLysAlaSerIleValIleLeuAlaArgSerGlnTer)
|
|
|
NM_004006.3(DMD):c.10297dup (p.Thr3433fs)
|
rs2040217313
|
|
NM_004006.3(DMD):c.10304C>G (p.Ser3435Ter)
|
rs1602369798
|
|
NM_004006.3(DMD):c.1032T>A (p.Tyr344Ter)
|
rs2146834581
|
|
NM_004006.3(DMD):c.1033C>T (p.Gln345Ter)
|
rs2146834557
|
|
NM_004006.3(DMD):c.10361del (p.Tyr3454fs)
|
rs886043084
|
|
NM_004006.3(DMD):c.10367del (p.Asn3456fs)
|
rs1556028034
|
|
NM_004006.3(DMD):c.10395-1G>C
|
rs1602338283
|
|
NM_004006.3(DMD):c.103C>T (p.Gln35Ter)
|
rs2149015656
|
|
NM_004006.3(DMD):c.10406_10407insAA (p.His3469fs)
|
rs1060502630
|
|
NM_004006.3(DMD):c.10409del (p.Leu3470fs)
|
rs2039782181
|
|
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter)
|
rs863224976
|
|
NM_004006.3(DMD):c.10425C>G (p.Tyr3475Ter)
|
rs2148184732
|
|
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)
|
rs895755247
|
|
NM_004006.3(DMD):c.10453_10454del (p.Leu3485fs)
|
rs398123838
|
|
NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer)
|
rs886043375
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
NM_004006.3(DMD):c.10454dup (p.Ser3486fs)
|
rs2148184058
|
|
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)
|
rs886042495
|
|
NM_004006.3(DMD):c.10482del (p.Ile3494_Leu3495insTer)
|
rs2148183611
|
|
NM_004006.3(DMD):c.10484_10491delinsG (p.Leu3495fs)
|
rs2148183552
|
|
NM_004006.3(DMD):c.10498_10499del (p.Glu3499_Ser3500insTer)
|
rs1602337330
|
|
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter)
|
rs863224977
|
|
NM_004006.3(DMD):c.10506_10507del (p.Glu3505fs)
|
|
|
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs)
|
rs878854366
|
|
NM_004006.3(DMD):c.10523_10524del (p.Arg3508fs)
|
|
|
NM_004006.3(DMD):c.1053_1065del (p.Leu352fs)
|
|
|
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)
|
rs1569401103
|
|
NM_004006.3(DMD):c.10563del (p.Ala3522fs)
|
rs2147936347
|
|
NM_004006.3(DMD):c.1061G>A (p.Trp354Ter)
|
rs1060502644
|
|
NM_004006.3(DMD):c.10633_10634dup (p.Met3545fs)
|
rs1602146767
|
|
NM_004006.3(DMD):c.10642dup (p.Thr3548fs)
|
rs2147934840
|
|
NM_004006.3(DMD):c.10725del (p.Met3576fs)
|
rs1060502625
|
|
NM_004006.3(DMD):c.10753C>T (p.Gln3585Ter)
|
rs2147933949
|
|
NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)
|
rs1556876346
|
|
NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter)
|
rs1602145926
|
|
NM_004006.3(DMD):c.10783C>T (p.Gln3595Ter)
|
rs1385794215
|
|
NM_004006.3(DMD):c.10797+1G>A
|
rs1060502626
|
|
NM_004006.3(DMD):c.10797+2T>A
|
rs2036834025
|
|
NM_004006.3(DMD):c.10813A>T (p.Lys3605Ter)
|
rs2036700718
|
|
NM_004006.3(DMD):c.10855C>T (p.Gln3619Ter)
|
rs2147921886
|
|
NM_004006.3(DMD):c.1087C>T (p.Gln363Ter)
|
rs2059695805
|
|
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)
|
rs794726993
|
|
NM_004006.3(DMD):c.1129del (p.Asp377fs)
|
rs1602467787
|
|
NM_004006.3(DMD):c.1144del (p.His382fs)
|
rs1602467590
|
|
NM_004006.3(DMD):c.1147G>T (p.Glu383Ter)
|
rs1602467530
|
|
NM_004006.3(DMD):c.1149+1G>A
|
rs1060502634
|
|
NM_004006.3(DMD):c.1150-2A>G
|
rs794727030
|
|
NM_004006.3(DMD):c.1150-2A>T
|
rs794727030
|
|
NM_004006.3(DMD):c.1150-2_1150-1del
|
rs2146822662
|
|
NM_004006.3(DMD):c.1150-2del
|
rs863224978
|
|
NM_004006.3(DMD):c.1177C>T (p.Gln393Ter)
|
rs2146821938
|
|
NM_004006.3(DMD):c.1183del (p.Arg395fs)
|
rs2146821772
|
|
NM_004006.3(DMD):c.1201C>T (p.Gln401Ter)
|
rs2146821257
|
|
NM_004006.3(DMD):c.1207G>T (p.Gly403Ter)
|
rs2146821137
|
|
NM_004006.3(DMD):c.1236dup (p.Ser413fs)
|
|
|
NM_004006.3(DMD):c.1238C>A (p.Ser413Ter)
|
rs2059646164
|
|
NM_004006.3(DMD):c.1240G>T (p.Glu414Ter)
|
rs2146820376
|
|
NM_004006.3(DMD):c.1254_1255dup (p.Glu419fs)
|
rs1602460062
|
|
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)
|
rs398123852
|
|
NM_004006.3(DMD):c.1264del (p.Glu422fs)
|
|
|
NM_004006.3(DMD):c.1266_1270dup (p.Met424fs)
|
|
|
NM_004006.3(DMD):c.1283del (p.Asn428fs)
|
rs2059643357
|
|
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)
|
rs398123853
|
|
NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)
|
rs398123853
|
|
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)
|
rs1556875224
|
|
NM_004006.3(DMD):c.1294_1295dup (p.Cys433fs)
|
rs2059642653
|
|
NM_004006.3(DMD):c.1299C>A (p.Cys433Ter)
|
rs372135475
|
|
NM_004006.3(DMD):c.1306del (p.Arg435_Val436insTer)
|
rs398123854
|
|
NM_004006.3(DMD):c.130dup (p.Leu44fs)
|
|
|
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1318G>T (p.Glu440Ter)
|
|
|
NM_004006.3(DMD):c.131dup (p.Gln45fs)
|
rs2080984178
|
|
NM_004006.3(DMD):c.1323dup (p.Gln442fs)
|
rs1602459252
|
|
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter)
|
rs863224979
|
|
NM_004006.3(DMD):c.1329C>T (p.Ser443=)
|
rs1060502631
|
|
NM_004006.3(DMD):c.1331+1G>A
|
rs863224980
|
|
NM_004006.3(DMD):c.1332-9A>G
|
rs72468700
|
|
NM_004006.3(DMD):c.1339A>T (p.Arg447Ter)
|
rs2149350435
|
|
NM_004006.3(DMD):c.1341_1342del (p.Arg447fs)
|
rs398123856
|
|
NM_004006.3(DMD):c.1341_1342dup (p.Val448fs)
|
rs398123856
|
|
NM_004006.3(DMD):c.1346dup (p.Leu449fs)
|
rs2149350391
|
|
NM_004006.3(DMD):c.1357C>T (p.Gln453Ter)
|
rs2057404615
|
|
NM_004006.3(DMD):c.1366A>T (p.Lys456Ter)
|
rs1556853298
|
|
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)
|
rs2149350253
|
|
NM_004006.3(DMD):c.1383dup (p.Asp462Ter)
|
rs2149350194
|
|
NM_004006.3(DMD):c.1385_1388del (p.Asp462fs)
|
rs2149350164
|
|
NM_004006.3(DMD):c.1388G>A (p.Trp463Ter)
|
rs863224981
|
|
NM_004006.3(DMD):c.1389G>A (p.Trp463Ter)
|
rs2149350132
|
|
NM_004006.3(DMD):c.1402_1406del (p.Glu468fs)
|
rs2149350038
|
|
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)
|
rs886042499
|
|
NM_004006.3(DMD):c.141dup (p.Arg48fs)
|
rs1569533965
|
|
NM_004006.3(DMD):c.1429G>T (p.Glu477Ter)
|
rs1357942538
|
|
NM_004006.3(DMD):c.142dup (p.Arg48fs)
|
rs2149015246
|
|
NM_004006.3(DMD):c.1433del (p.Pro478fs)
|
rs2149349862
|
|
NM_004006.3(DMD):c.1438G>T (p.Gly480Ter)
|
rs128626240
|
|
NM_004006.3(DMD):c.1467_1470del (p.Gln489fs)
|
|
|
NM_004006.3(DMD):c.1474C>T (p.Gln492Ter)
|
rs2149349537
|
|
NM_004006.3(DMD):c.1476del (p.Gln492fs)
|
rs1556853039
|
|
NM_004006.3(DMD):c.1482+1G>T
|
rs398123862
|
|
NM_004006.3(DMD):c.1482+1del
|
rs2149349423
|
|
NM_004006.3(DMD):c.1483-1G>C
|
rs863224982
|
|
NM_004006.3(DMD):c.1483-1G>T
|
rs863224982
|
|
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)
|
rs128626241
|
|
NM_004006.3(DMD):c.1501G>T (p.Glu501Ter)
|
rs2055461260
|
|
NM_004006.3(DMD):c.1504C>T (p.Gln502Ter)
|
rs878854618
|
|
NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)
|
rs2149265022
|
|
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs)
|
rs398123863
|
|
NM_004006.3(DMD):c.153dup (p.Asp52fs)
|
rs1557084128
|
|
NM_004006.3(DMD):c.1564G>T (p.Gly522Ter)
|
rs778171516
|
|
NM_004006.3(DMD):c.1577del (p.Thr526fs)
|
rs1569273905
|
|
NM_004006.3(DMD):c.1591G>T (p.Glu531Ter)
|
rs2149264484
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
NM_004006.3(DMD):c.1602G>A (p.Lys534=)
|
rs1556834513
|
|
NM_004006.3(DMD):c.1603-2A>G
|
rs773779441
|
|
NM_004006.3(DMD):c.1603-2A>T
|
rs773779441
|
|
NM_004006.3(DMD):c.1614_1615delinsGT (p.Asp538_Arg539delinsGluTer)
|
|
|
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)
|
rs398123865
|
|
NM_004006.3(DMD):c.1619G>A (p.Trp540Ter)
|
rs1569230406
|
|
NM_004006.3(DMD):c.161T>G (p.Leu54Arg)
|
rs128626231
|
|
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)
|
rs1057518962
|
|
NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)
|
rs1569230293
|
|
NM_004006.3(DMD):c.163G>T (p.Glu55Ter)
|
rs1603448406
|
|
NM_004006.3(DMD):c.1644del (p.Asp549fs)
|
|
|
NM_004006.3(DMD):c.1652G>A (p.Trp551Ter)
|
rs1569230215
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)
|
rs863224983
|
|
NM_004006.3(DMD):c.1664_1667dup (p.Asp556fs)
|
rs1601810667
|
|
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)
|
rs863224984
|
|
NM_004006.3(DMD):c.1696G>T (p.Glu566Ter)
|
rs2149138125
|
|
NM_004006.3(DMD):c.1703del (p.Gln568fs)
|
rs2052700227
|
|
NM_004006.3(DMD):c.1704+1G>A
|
rs794727123
|
|
NM_004006.3(DMD):c.1704+1G>T
|
rs794727123
|
|
NM_004006.3(DMD):c.1705-1G>T
|
rs878854619
|
|
NM_004006.3(DMD):c.1705-2A>G
|
rs1601809011
|
|
NM_004006.3(DMD):c.1708del (p.Leu570fs)
|
rs2149137188
|
|
NM_004006.3(DMD):c.1721G>A (p.Trp574Ter)
|
rs2149137069
|
|
NM_004006.3(DMD):c.1726del (p.Ser576fs)
|
|
|
NM_004006.3(DMD):c.1734dup (p.Glu579fs)
|
rs398123866
|
|
NM_004006.3(DMD):c.1750A>T (p.Lys584Ter)
|
rs1601808608
|
|
NM_004006.3(DMD):c.1777C>T (p.Gln593Ter)
|
rs1601808326
|
|
NM_004006.3(DMD):c.1783G>T (p.Glu595Ter)
|
rs2149136473
|
|
NM_004006.3(DMD):c.1788del (p.Met596fs)
|
rs1601808296
|
|
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)
|
rs128626233
|
|
NM_004006.3(DMD):c.178del (p.Gln60fs)
|
rs2080979223
|
|
NM_004006.3(DMD):c.1791dup (p.Ser598fs)
|
rs1601808288
|
|
NM_004006.3(DMD):c.1795del (p.Ser599fs)
|
rs1556809704
|
|
NM_004006.3(DMD):c.1812+1G>T
|
|
|
NM_004006.3(DMD):c.1837A>T (p.Lys613Ter)
|
rs1302764635
|
|
NM_004006.3(DMD):c.183dup (p.Leu62fs)
|
rs2080978755
|
|
NM_004006.3(DMD):c.1843C>T (p.Gln615Ter)
|
rs2149095456
|
|
NM_004006.3(DMD):c.1855A>T (p.Lys619Ter)
|
rs2051636517
|
|
NM_004006.3(DMD):c.186+1G>A
|
rs1557084067
|
|
NM_004006.3(DMD):c.1865C>A (p.Ser622Ter)
|
rs886041344
|
|
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)
|
rs886041344
|
|
NM_004006.3(DMD):c.187-1G>T
|
rs1603447081
|
|
NM_004006.3(DMD):c.187-2A>G
|
rs2080514041
|
|
NM_004006.3(DMD):c.1873C>T (p.Gln625Ter)
|
rs2051634469
|
|
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
|
rs1603636541
|
|
NM_004006.3(DMD):c.1952G>A (p.Trp651Ter)
|
rs128626242
|
|
NM_004006.3(DMD):c.1961T>A (p.Leu654Ter)
|
rs1057518312
|
|
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)
|
rs1603636537
|
|
NM_004006.3(DMD):c.1975G>T (p.Glu659Ter)
|
|
|
NM_004006.3(DMD):c.1979del (p.Lys660fs)
|
rs1569213903
|
|
NM_004006.3(DMD):c.1979dup (p.Ser661fs)
|
|
|
NM_004006.3(DMD):c.1983dup (p.Thr662fs)
|
rs2149094471
|
|
NM_004006.3(DMD):c.198dup (p.Gly67fs)
|
rs2148984775
|
|
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)
|
rs398123870
|
|
NM_004006.3(DMD):c.1992+1G>T
|
rs1556802319
|
|
NM_004006.3(DMD):c.19del (p.Glu6_Val7insTer)
|
rs1557300135
|
|
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)
|
rs128626232
|
|
NM_004006.3(DMD):c.2017_2027del (p.Gln673fs)
|
rs2148960326
|
|
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)
|
rs398123872
|
|
NM_004006.3(DMD):c.2032_2033del (p.Gln678fs)
|
rs398123873
|
|
NM_004006.3(DMD):c.2050del (p.Thr684fs)
|
|
|
NM_004006.3(DMD):c.2052_2053del (p.Val685fs)
|
rs886043699
|
|
NM_004006.3(DMD):c.205del (p.Thr69fs)
|
|
|
NM_004006.3(DMD):c.2060del (p.Thr687fs)
|
|
|
NM_004006.3(DMD):c.2064dup (p.Thr689fs)
|
rs1603635953
|
|
NM_004006.3(DMD):c.2074_2086del (p.Arg691_Glu692insTer)
|
rs2148959744
|
|
NM_004006.3(DMD):c.2076dup (p.Gln693fs)
|
rs1060502635
|
|
NM_004006.3(DMD):c.2077C>T (p.Gln693Ter)
|
rs1060502661
|
|
NM_004006.3(DMD):c.2101del (p.Glu701fs)
|
rs1603635950
|
|
NM_004006.3(DMD):c.2114del (p.Pro705fs)
|
rs1603635949
|
|
NM_004006.3(DMD):c.2125C>T (p.Gln709Ter)
|
rs2148959323
|
|
NM_004006.3(DMD):c.2129del (p.Lys710fs)
|
rs1569169560
|
|
NM_004006.3(DMD):c.2132del (p.Lys711fs)
|
rs1556780579
|
|
NM_004006.3(DMD):c.2168+1G>A
|
rs1057518207
|
|
NM_004006.3(DMD):c.2168+2T>C
|
|
|
NM_004006.3(DMD):c.2169-1G>A
|
rs1603635331
|
|
NM_004006.3(DMD):c.2169-2A>T
|
rs2148805010
|
|
NM_004006.3(DMD):c.2187_2188del (p.Glu730fs)
|
|
|
NM_004006.3(DMD):c.2195del (p.His732fs)
|
|
|
NM_004006.3(DMD):c.2195dup (p.His732fs)
|
rs1569565192
|
|
NM_004006.3(DMD):c.2201G>A (p.Trp734Ter)
|
|
|
NM_004006.3(DMD):c.2202G>A (p.Trp734Ter)
|
rs1060502636
|
|
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)
|
rs863224985
|
|
NM_004006.3(DMD):c.2227C>T (p.Gln743Ter)
|
rs2046036327
|
|
NM_004006.3(DMD):c.2253del (p.Lys752fs)
|
rs2046034052
|
|
NM_004006.3(DMD):c.2276T>A (p.Leu759Ter)
|
rs1060502627
|
|
NM_004006.3(DMD):c.2276T>G (p.Leu759Ter)
|
rs1060502627
|
|
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs)
|
rs398123881
|
|
NM_004006.3(DMD):c.2284A>T (p.Lys762Ter)
|
|
|
NM_004006.3(DMD):c.2287_2292+12del
|
rs1603635326
|
|
NM_004006.3(DMD):c.2292+2T>C
|
rs1557396600
|
|
NM_004006.3(DMD):c.2294_2297del (p.Ala765fs)
|
rs398123882
|
|
NM_004006.3(DMD):c.2299G>T (p.Glu767Ter)
|
rs2148691615
|
|
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)
|
rs201366610
|
|
NM_004006.3(DMD):c.2308A>T (p.Lys770Ter)
|
rs128626243
|
|
NM_004006.3(DMD):c.2314G>T (p.Glu772Ter)
|
rs267606770
|
|
NM_004006.3(DMD):c.2317A>G (p.Lys773Glu)
|
rs128626244
|
|
NM_004006.3(DMD):c.2317A>T (p.Lys773Ter)
|
rs128626244
|
|
NM_004006.3(DMD):c.2327_2378del (p.Lys776fs)
|
rs2148690745
|
|
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)
|
rs398123883
|
|
NM_004006.3(DMD):c.2348C>G (p.Ser783Ter)
|
rs2044079791
|
|
NM_004006.3(DMD):c.2353C>T (p.Gln785Ter)
|
rs2148691015
|
|
NM_004006.3(DMD):c.2359del (p.Leu787fs)
|
rs2148690952
|
|
NM_004006.3(DMD):c.2368C>T (p.Gln790Ter)
|
rs762860653
|
|
NM_004006.3(DMD):c.2380+1G>A
|
rs398123884
|
|
NM_004006.3(DMD):c.2380+1G>C
|
rs398123884
|
|
NM_004006.3(DMD):c.2380G>T (p.Glu794Ter)
|
rs398123886
|
|
NM_004006.3(DMD):c.238dup (p.Ala80fs)
|
rs1557079469
|
|
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter)
|
rs863224986
|
|
NM_004006.3(DMD):c.2407del (p.Gln803fs)
|
rs1603634748
|
|
NM_004006.3(DMD):c.2415_2422del (p.Leu808fs)
|
rs2148632453
|
|
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)
|
rs398123888
|
|
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter)
|
rs398123889
|
|
NM_004006.3(DMD):c.2439del (p.Ile813fs)
|
rs2042990064
|
|
NM_004006.3(DMD):c.2440G>T (p.Glu814Ter)
|
rs1408435603
|
|
NM_004006.3(DMD):c.2442del (p.Glu814fs)
|
rs1603634747
|
|
NM_004006.3(DMD):c.2448C>A (p.Cys816Ter)
|
rs1603634746
|
|
NM_004006.3(DMD):c.2461G>T (p.Glu821Ter)
|
rs1603634745
|
|
NM_004006.3(DMD):c.2463_2466del (p.Glu821fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)
|
rs753662330
|
|
NM_004006.3(DMD):c.2508_2509dup (p.Asn837fs)
|
rs2148631503
|
|
NM_004006.3(DMD):c.2508dup (p.Asn837Ter)
|
rs2042983140
|
|
NM_004006.3(DMD):c.2518C>T (p.Gln840Ter)
|
rs398123892
|
|
NM_004006.3(DMD):c.251del (p.Leu84fs)
|
rs398123893
|
|
NM_004006.3(DMD):c.2521C>T (p.Gln841Ter)
|
rs2148631382
|
|
NM_004006.3(DMD):c.2530C>T (p.Gln844Ter)
|
rs768892830
|
|
NM_004006.3(DMD):c.2539dup (p.Thr847fs)
|
|
|
NM_004006.3(DMD):c.253C>T (p.Gln85Ter)
|
rs128626234
|
|
NM_004006.3(DMD):c.2546del (p.Ala849fs)
|
rs2042979418
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)
|
rs1429329309
|
|
NM_004006.3(DMD):c.2563dup (p.Ile855fs)
|
|
|
NM_004006.3(DMD):c.2572_2578del (p.Thr858fs)
|
rs1603634742
|
|
NM_004006.3(DMD):c.2584G>T (p.Glu862Ter)
|
rs2042975774
|
|
NM_004006.3(DMD):c.2601_2602dup (p.Ser868fs)
|
rs794727322
|
|
NM_004006.3(DMD):c.2605C>T (p.Gln869Ter)
|
rs2148630465
|
|
NM_004006.3(DMD):c.2609dup (p.Leu870fs)
|
|
|
NM_004006.3(DMD):c.260dup (p.Asn87fs)
|
rs2148984299
|
|
NM_004006.3(DMD):c.2611A>T (p.Lys871Ter)
|
rs863224987
|
|
NM_004006.3(DMD):c.2614dup (p.Ile872fs)
|
rs2148630350
|
|
NM_004006.3(DMD):c.2617dup (p.Cys873fs)
|
rs2042972321
|
|
NM_004006.3(DMD):c.2622+1G>A
|
rs398123901
|
|
NM_004006.3(DMD):c.2622+1G>T
|
rs398123901
|
|
NM_004006.3(DMD):c.2623-2A>G
|
rs2148584710
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
NM_004006.3(DMD):c.2638del (p.Leu880fs)
|
rs1557380685
|
|
NM_004006.3(DMD):c.263_264dup (p.Val89fs)
|
rs1603447057
|
|
NM_004006.3(DMD):c.264+1G>A
|
rs1569533147
|
|
NM_004006.3(DMD):c.264+5G>A
|
rs398123902
|
|
NM_004006.3(DMD):c.2642C>A (p.Ser881Ter)
|
rs747937552
|
|
NM_004006.3(DMD):c.265-1G>A
|
rs2148850769
|
|
NM_004006.3(DMD):c.265-2A>G
|
rs863224989
|
|
NM_004006.3(DMD):c.265-463A>G
|
rs1603441629
|
|
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)
|
rs398123903
|
|
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)
|
rs1060502639
|
|
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.2695G>T (p.Glu899Ter)
|
rs2148583804
|
|
NM_004006.3(DMD):c.2704C>T (p.Gln902Ter)
|
rs1603634608
|
|
NM_004006.3(DMD):c.2708del (p.Gly903fs)
|
rs1603634607
|
|
NM_004006.3(DMD):c.2719_2720insA (p.Leu907fs)
|
rs2148583439
|
|
NM_004006.3(DMD):c.2733dup (p.Val912fs)
|
rs1557380496
|
|
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)
|
rs727503850
|
|
NM_004006.3(DMD):c.2758C>T (p.Gln920Ter)
|
rs398123905
|
|
NM_004006.3(DMD):c.2760_2761del (p.Gln920fs)
|
rs2148582964
|
|
NM_004006.3(DMD):c.2768del (p.Ser923fs)
|
|
|
NM_004006.3(DMD):c.2774_2775del (p.Val925fs)
|
rs2148582821
|
|
NM_004006.3(DMD):c.2776C>T (p.Gln926Ter)
|
rs1055371114
|
|
NM_004006.3(DMD):c.2787_2788del (p.Lys930fs)
|
|
|
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)
|
rs128625227
|
|
NM_004006.3(DMD):c.2792_2793del (p.Glu931fs)
|
rs1603634604
|
|
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)
|
rs756949497
|
|
NM_004006.3(DMD):c.2803+5_2803+8del
|
rs2148582421
|
|
NM_004006.3(DMD):c.2804-1G>A
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-1G>C
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-1G>T
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-1del
|
rs1557374667
|
|
NM_004006.3(DMD):c.2804-2A>C
|
rs794727357
|
|
NM_004006.3(DMD):c.2804-2A>T
|
rs794727357
|
|
NM_004006.3(DMD):c.280del (p.Ile94fs)
|
rs863224990
|
|
NM_004006.3(DMD):c.282dup (p.Gly95fs)
|
rs863224991
|
|
NM_004006.3(DMD):c.2833del (p.Gln945fs)
|
|
|
NM_004006.3(DMD):c.2833dup (p.Gln945fs)
|
rs2148485744
|
|
NM_004006.3(DMD):c.283G>T (p.Gly95Ter)
|
rs1557058415
|
|
NM_004006.3(DMD):c.2853del (p.Arg952fs)
|
rs1603634299
|
|
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)
|
rs398123912
|
|
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)
|
rs1603634298
|
|
NM_004006.3(DMD):c.286del (p.Ser96fs)
|
rs2148850505
|
|
NM_004006.3(DMD):c.2902_2903insAA (p.Ser968fs)
|
rs2148485071
|
|
NM_004006.3(DMD):c.2914del (p.Tyr972fs)
|
rs1569564281
|
|
NM_004006.3(DMD):c.2917G>T (p.Glu973Ter)
|
rs2148484887
|
|
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)
|
rs767387334
|
|
NM_004006.3(DMD):c.2941del (p.Glu981fs)
|
|
|
NM_004006.3(DMD):c.2945T>A (p.Leu982Ter)
|
rs2040710629
|
|
NM_004006.3(DMD):c.2949+1G>A
|
rs1557374482
|
|
NM_004006.3(DMD):c.2949+1G>T
|
rs1557374482
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
NM_004006.3(DMD):c.294_306del (p.Asp98fs)
|
rs1603441550
|
|
NM_004006.3(DMD):c.2950-1G>T
|
rs2148460867
|
|
NM_004006.3(DMD):c.2950-2A>G
|
rs398123915
|
|
NM_004006.3(DMD):c.2959del (p.Ser987fs)
|
|
|
NM_004006.3(DMD):c.2960del (p.Ser987fs)
|
rs1603634207
|
|
NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)
|
rs1233380601
|
|
NM_004006.3(DMD):c.2971G>T (p.Glu991Ter)
|
rs72468667
|
|
NM_004006.3(DMD):c.2974C>T (p.Gln992Ter)
|
rs2148460570
|
|
NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)
|
rs863224992
|
|
NM_004006.3(DMD):c.2994T>A (p.Tyr998Ter)
|
rs1472308773
|
|
NM_004006.3(DMD):c.29_30del (p.Cys10fs)
|
rs2051898232
|
|
NM_004006.3(DMD):c.29del (p.Cys10fs)
|
rs1603419076
|
|
NM_004006.3(DMD):c.3008_3009del (p.Val1003fs)
|
rs2040303197
|
|
NM_004006.3(DMD):c.3010A>T (p.Lys1004Ter)
|
rs2148460313
|
|
NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter)
|
rs1603634206
|
|
NM_004006.3(DMD):c.3020C>A (p.Ser1007Ter)
|
rs144732570
|
|
NM_004006.3(DMD):c.3042_3052del (p.Arg1016fs)
|
|
|
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter)
|
rs398123919
|
|
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter)
|
rs398123920
|
|
NM_004006.3(DMD):c.3088A>T (p.Lys1030Ter)
|
rs2148459492
|
|
NM_004006.3(DMD):c.30T>A (p.Cys10Ter)
|
|
|
NM_004006.3(DMD):c.31+1G>A
|
rs398123923
|
|
NM_004006.3(DMD):c.31+1G>C
|
rs398123923
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.31+1del
|
rs1603419074
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.31+5G>A
|
rs1403865104
|
|
NM_004006.3(DMD):c.3103C>T (p.Gln1035Ter)
|
rs753006232
|
|
NM_004006.3(DMD):c.3110_3111del (p.Val1037fs)
|
rs1603634203
|
|
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)
|
rs128626245
|
|
NM_004006.3(DMD):c.3136C>T (p.Gln1046Ter)
|
rs2148459016
|
|
NM_004006.3(DMD):c.3143_3149del (p.Asn1048fs)
|
rs2148458912
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3157dup (p.Ile1053fs)
|
rs1603634199
|
|
NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)
|
|
|
NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)
|
|
|
NM_004006.3(DMD):c.3186del (p.Lys1062fs)
|
rs2148428193
|
|
NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)
|
rs128626246
|
|
NM_004006.3(DMD):c.3189G>A (p.Trp1063Ter)
|
rs2148428124
|
|
NM_004006.3(DMD):c.3193_3209dup (p.Phe1070fs)
|
|
|
NM_004006.3(DMD):c.3193del (p.Ala1065fs)
|
rs1603634105
|
|
NM_004006.3(DMD):c.3213del (p.Lys1072fs)
|
rs2148427870
|
|
NM_004006.3(DMD):c.321dup (p.Leu108fs)
|
rs2078432433
|
|
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)
|
rs1569563751
|
|
NM_004006.3(DMD):c.3225G>A (p.Trp1075Ter)
|
|
|
NM_004006.3(DMD):c.3251dup (p.Gln1087fs)
|
|
|
NM_004006.3(DMD):c.3256_3257del (p.Lys1086fs)
|
|
|
NM_004006.3(DMD):c.3257del (p.Lys1086fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)
|
rs886039536
|
|
NM_004006.3(DMD):c.3268C>T (p.Gln1090Ter)
|
rs1557369991
|
|
NM_004006.3(DMD):c.3274A>T (p.Arg1092Ter)
|
rs2148427138
|
|
NM_004006.3(DMD):c.3277-1G>A
|
|
|
NM_004006.3(DMD):c.3277-1G>C
|
rs2148419974
|
|
NM_004006.3(DMD):c.3277-2A>G
|
|
|
NM_004006.3(DMD):c.3277-2A>T
|
rs2098391032
|
|
NM_004006.3(DMD):c.3281del (p.Leu1093_Leu1094insTer)
|
rs2148419938
|
|
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)
|
rs398123935
|
|
NM_004006.3(DMD):c.3295_3296del (p.Gln1099fs)
|
rs1603634079
|
|
NM_004006.3(DMD):c.3304C>T (p.Gln1102Ter)
|
rs2148419679
|
|
NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs)
|
rs1557369493
|
|
NM_004006.3(DMD):c.3324del (p.Asn1109fs)
|
|
|
NM_004006.3(DMD):c.3326_3338del (p.Asn1109fs)
|
|
|
NM_004006.3(DMD):c.3347del (p.Lys1116fs)
|
rs2098390819
|
|
NM_004006.3(DMD):c.334dup (p.Trp112fs)
|
|
|
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)
|
rs1569563678
|
|
NM_004006.3(DMD):c.3365_3366del (p.Glu1122fs)
|
rs1057518284
|
|
NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)
|
rs374744331
|
|
NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs)
|
rs1557369413
|
|
NM_004006.3(DMD):c.3426C>A (p.Cys1142Ter)
|
rs2148418171
|
|
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter)
|
rs863224993
|
|
NM_004006.3(DMD):c.3432+1G>A
|
rs398123937
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
NM_004006.3(DMD):c.3432+3A>G
|
rs398123938
|
|
NM_004006.3(DMD):c.3433-1G>C
|
|
|
NM_004006.3(DMD):c.3433-5_3434del
|
rs863224994
|
|
NM_004006.3(DMD):c.3438del (p.Val1145_Tyr1146insTer)
|
rs2148349819
|
|
NM_004006.3(DMD):c.3460G>T (p.Gly1154Ter)
|
rs1603633868
|
|
NM_004006.3(DMD):c.3469G>T (p.Glu1157Ter)
|
rs128625226
|
|
NM_004006.3(DMD):c.3490A>T (p.Lys1164Ter)
|
rs2098349160
|
|
NM_004006.3(DMD):c.34_38del (p.Glu12fs)
|
rs1602766725
|
|
NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)
|
rs1263708289
|
|
NM_004006.3(DMD):c.3515_3519dup (p.Thr1174delinsGlyTer)
|
rs2148348931
|
|
NM_004006.3(DMD):c.3516G>A (p.Trp1172Ter)
|
rs865974846
|
|
NM_004006.3(DMD):c.3523C>T (p.Gln1175Ter)
|
|
|
NM_004006.3(DMD):c.3533_3536del (p.Glu1178fs)
|
rs1603633864
|
|
NM_004006.3(DMD):c.3544G>T (p.Glu1182Ter)
|
rs2148348645
|
|
NM_004006.3(DMD):c.354G>A (p.Trp118Ter)
|
rs2148849959
|
|
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)
|
rs868836192
|
|
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)
|
rs863224995
|
|
NM_004006.3(DMD):c.3565del (p.Thr1189fs)
|
rs2148348431
|
|
NM_004006.3(DMD):c.356del (p.Gln119fs)
|
rs1557058308
|
|
NM_004006.3(DMD):c.358-1G>A
|
rs886044582
|
|
NM_004006.3(DMD):c.358-2A>G
|
rs863224996
|
|
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)
|
rs398123942
|
|
NM_004006.3(DMD):c.3597_3601del (p.Met1200fs)
|
|
|
NM_004006.3(DMD):c.3603+1G>A
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+2T>A
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2T>C
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2T>G
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.3603+2dup
|
rs796523999
|
|
NM_004006.3(DMD):c.3603+3A>T
|
rs1060502615
|
|
NM_004006.3(DMD):c.3604-1G>C
|
rs1569562952
|
|
NM_004006.3(DMD):c.3622C>T (p.Gln1208Ter)
|
rs2148289012
|
|
NM_004006.3(DMD):c.3630del (p.Glu1211fs)
|
rs2098315232
|
|
NM_004006.3(DMD):c.3637A>T (p.Lys1213Ter)
|
|
|
NM_004006.3(DMD):c.3639del (p.Lys1213_Val1214insTer)
|
rs398123943
|
|
NM_004006.3(DMD):c.3645dup (p.Leu1216fs)
|
rs2148288724
|
|
NM_004006.3(DMD):c.3656_3657del (p.Glu1219fs)
|
|
|
NM_004006.3(DMD):c.3679C>T (p.Gln1227Ter)
|
rs1569562941
|
|
NM_004006.3(DMD):c.3690dup (p.Val1231fs)
|
rs2148288214
|
|
NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter)
|
rs1339088514
|
|
NM_004006.3(DMD):c.3699dup (p.Glu1234fs)
|
|
|
NM_004006.3(DMD):c.3713del (p.Lys1238fs)
|
rs1557362198
|
|
NM_004006.3(DMD):c.3715_3733del (p.Glu1239fs)
|
|
|
NM_004006.3(DMD):c.3727_3728del (p.Leu1243fs)
|
rs2148287711
|
|
NM_004006.3(DMD):c.372dup (p.Lys125fs)
|
|
|
NM_004006.3(DMD):c.3741C>A (p.Tyr1247Ter)
|
|
|
NM_004006.3(DMD):c.3742C>T (p.Gln1248Ter)
|
rs1569562936
|
|
NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter)
|
rs1569562933
|
|
NM_004006.3(DMD):c.377del (p.Asn126fs)
|
rs1569528138
|
|
NM_004006.3(DMD):c.377dup (p.Asn126fs)
|
rs1569528138
|
|
NM_004006.3(DMD):c.3795G>A (p.Trp1265Ter)
|
rs1603633545
|
|
NM_004006.3(DMD):c.3817del (p.Ser1273fs)
|
rs1557359217
|
|
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)
|
rs794727463
|
|
NM_004006.3(DMD):c.3843G>A (p.Trp1281Ter)
|
rs1603633541
|
|
NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter)
|
rs1557359192
|
|
NM_004006.3(DMD):c.387dup (p.Gly130fs)
|
rs2148807654
|
|
NM_004006.3(DMD):c.388G>T (p.Gly130Ter)
|
rs2148807631
|
|
NM_004006.3(DMD):c.3917dup (p.Asp1307fs)
|
|
|
NM_004006.3(DMD):c.3921+1_3921+2dup
|
rs2098280263
|
|
NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)
|
rs1569562466
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.397C>T (p.Gln133Ter)
|
|
|
NM_004006.3(DMD):c.3980del (p.Ala1327fs)
|
rs1603633486
|
|
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter)
|
rs745640786
|
|
NM_004006.3(DMD):c.39del (p.Glu14fs)
|
rs1602766655
|
|
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)
|
rs146880270
|
|
NM_004006.3(DMD):c.400del (p.Thr134fs)
|
rs2148807456
|
|
NM_004006.3(DMD):c.402_408dup (p.Glu137delinsGlnGlnTer)
|
rs2077781516
|
|
NM_004006.3(DMD):c.402del (p.Asn135fs)
|
|
|
NM_004006.3(DMD):c.4033dup (p.Glu1345fs)
|
rs2148193545
|
|
NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)
|
rs907237595
|
|
NM_004006.3(DMD):c.4060dup (p.Leu1354fs)
|
rs2148193045
|
|
NM_004006.3(DMD):c.4071+1G>A
|
rs1060502643
|
|
NM_004006.3(DMD):c.40_41del (p.Glu14fs)
|
rs1060502652
|
|
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)
|
rs398123948
|
|
NM_004006.3(DMD):c.4147C>T (p.Gln1383Ter)
|
rs2147935442
|
|
NM_004006.3(DMD):c.4171A>T (p.Lys1391Ter)
|
rs2147935042
|
|
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)
|
rs886043496
|
|
NM_004006.3(DMD):c.418del (p.Leu140fs)
|
rs2148807197
|
|
NM_004006.3(DMD):c.4191dup (p.Ala1398fs)
|
|
|
NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter)
|
rs128626247
|
|
NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter)
|
rs1010666282
|
|
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)
|
rs863224997
|
|
NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter)
|
rs2097991272
|
|
NM_004006.3(DMD):c.4273G>T (p.Glu1425Ter)
|
rs2147621084
|
|
NM_004006.3(DMD):c.4290_4291del (p.His1430fs)
|
rs1557322838
|
|
NM_004006.3(DMD):c.4294C>T (p.Gln1432Ter)
|
rs1603632326
|
|
NM_004006.3(DMD):c.4295del (p.Gln1432fs)
|
rs1557322834
|
|
NM_004006.3(DMD):c.4299_4306dup (p.Ala1436fs)
|
rs2147620247
|
|
NM_004006.3(DMD):c.4306_4309del (p.Ala1436fs)
|
rs1603632324
|
|
NM_004006.3(DMD):c.430dup (p.Val144fs)
|
|
|
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)
|
rs1603632322
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter)
|
rs2147613866
|
|
NM_004006.3(DMD):c.434G>C (p.Arg145Pro)
|
rs398123952
|
|
NM_004006.3(DMD):c.4350dup (p.Leu1451fs)
|
rs772220893
|
|
NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter)
|
rs1603632316
|
|
NM_004006.3(DMD):c.4354C>T (p.Gln1452Ter)
|
rs2147613652
|
|
NM_004006.3(DMD):c.4363dup (p.Ser1455fs)
|
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
NM_004006.3(DMD):c.4384C>T (p.Gln1462Ter)
|
rs2147613231
|
|
NM_004006.3(DMD):c.4402G>T (p.Glu1468Ter)
|
rs2097986793
|
|
NM_004006.3(DMD):c.4413_4416del (p.Gln1472fs)
|
rs2147612475
|
|
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)
|
rs128626248
|
|
NM_004006.3(DMD):c.4414del (p.Gln1472fs)
|
rs2147612526
|
|
NM_004006.3(DMD):c.4423A>T (p.Lys1475Ter)
|
rs1603632314
|
|
NM_004006.3(DMD):c.4433T>G (p.Leu1478Ter)
|
rs1603632312
|
|
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter)
|
rs1603632311
|
|
NM_004006.3(DMD):c.444del (p.Arg149fs)
|
rs1603437272
|
|
NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs)
|
rs398123957
|
|
NM_004006.3(DMD):c.4477_4493del (p.Val1493fs)
|
rs1603632309
|
|
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)
|
rs748769566
|
|
NM_004006.3(DMD):c.4486G>T (p.Glu1496Ter)
|
rs1569560739
|
|
NM_004006.3(DMD):c.4499C>A (p.Ser1500Ter)
|
rs2147610804
|
|
NM_004006.3(DMD):c.44del (p.Asp15fs)
|
rs2093886453
|
|
NM_004006.3(DMD):c.4501C>T (p.Gln1501Ter)
|
rs1557322201
|
|
NM_004006.3(DMD):c.4515T>A (p.Cys1505Ter)
|
rs2147610488
|
|
NM_004006.3(DMD):c.4518+2T>G
|
rs2147610382
|
|
NM_004006.3(DMD):c.4518+5G>A
|
rs398123960
|
|
NM_004006.3(DMD):c.4519-2A>C
|
rs2097958830
|
|
NM_004006.3(DMD):c.4519-2_4523del
|
|
|
NM_004006.3(DMD):c.4530_4531del (p.Leu1512fs)
|
|
|
NM_004006.3(DMD):c.4536_4540del (p.Val1515_Lys1516insTer)
|
rs1603632248
|
|
NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs)
|
rs1064793479
|
|
NM_004006.3(DMD):c.453T>G (p.Tyr151Ter)
|
rs1603437254
|
|
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer)
|
rs398123962
|
|
NM_004006.3(DMD):c.4564del (p.Met1521_Val1522insTer)
|
|
|
NM_004006.3(DMD):c.4570_4573del (p.Lys1524fs)
|
|
|
NM_004006.3(DMD):c.457C>T (p.Gln153Ter)
|
rs886042983
|
|
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)
|
rs1557320194
|
|
NM_004006.3(DMD):c.4600C>T (p.Gln1534Ter)
|
rs2097958423
|
|
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)
|
rs863224998
|
|
NM_004006.3(DMD):c.4610dup (p.Asn1537fs)
|
rs1603632245
|
|
NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)
|
rs1557320151
|
|
NM_004006.3(DMD):c.4626_4627dup (p.Glu1543fs)
|
|
|
NM_004006.3(DMD):c.4627G>T (p.Glu1543Ter)
|
rs2147558029
|
|
NM_004006.3(DMD):c.4634dup (p.Thr1546fs)
|
rs398123963
|
|
NM_004006.3(DMD):c.4638dup (p.Ala1547fs)
|
|
|
NM_004006.3(DMD):c.4660G>T (p.Glu1554Ter)
|
rs1216000876
|
|
NM_004006.3(DMD):c.4675-1G>A
|
rs2097921115
|
|
NM_004006.3(DMD):c.4684A>T (p.Arg1562Ter)
|
rs771425504
|
|
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs)
|
rs1603632119
|
|
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)
|
rs1603632117
|
|
NM_004006.3(DMD):c.4694del (p.Gln1565fs)
|
rs2147472734
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.4738_4742del (p.Met1580fs)
|
rs2147471723
|
|
NM_004006.3(DMD):c.4777G>T (p.Glu1593Ter)
|
rs2097920711
|
|
NM_004006.3(DMD):c.4781del (p.Glu1593_Leu1594insTer)
|
|
|
NM_004006.3(DMD):c.4793C>A (p.Ser1598Ter)
|
rs2147470500
|
|
NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)
|
rs1557315928
|
|
NM_004006.3(DMD):c.4840G>T (p.Gly1614Ter)
|
rs2097920506
|
|
NM_004006.3(DMD):c.4852C>T (p.Gln1618Ter)
|
rs1085307535
|
|
NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)
|
rs1060502645
|
|
NM_004006.3(DMD):c.4860_4861del (p.Glu1620fs)
|
rs1603631756
|
|
NM_004006.3(DMD):c.4864G>T (p.Glu1622Ter)
|
rs2147261270
|
|
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)
|
rs762250680
|
|
NM_004006.3(DMD):c.488G>A (p.Trp163Ter)
|
rs2077774135
|
|
NM_004006.3(DMD):c.4897G>T (p.Glu1633Ter)
|
rs370800101
|
|
NM_004006.3(DMD):c.489G>A (p.Trp163Ter)
|
rs398123970
|
|
NM_004006.3(DMD):c.4902_4908del (p.Gly1635fs)
|
rs398123971
|
|
NM_004006.3(DMD):c.4903G>T (p.Gly1635Ter)
|
rs2097850128
|
|
NM_004006.3(DMD):c.4914_4915del (p.Lys1639fs)
|
rs2097850041
|
|
NM_004006.3(DMD):c.4918_4919delinsTG (p.Thr1640Ter)
|
rs1557305645
|
|
NM_004006.3(DMD):c.4918del (p.Thr1640fs)
|
rs863225000
|
|
NM_004006.3(DMD):c.492_511del (p.Asp165fs)
|
|
|
NM_004006.3(DMD):c.4934_4937del (p.Lys1645fs)
|
rs1060502632
|
|
NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)
|
rs2097849830
|
|
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
|
rs1603631752
|
|
NM_004006.3(DMD):c.4983del (p.Ile1661fs)
|
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.5009G>A (p.Trp1670Ter)
|
rs2147258786
|
|
NM_004006.3(DMD):c.5021T>A (p.Leu1674Ter)
|
|
|
NM_004006.3(DMD):c.5021del (p.Leu1674fs)
|
|
|
NM_004006.3(DMD):c.5026-2A>G
|
rs1569559849
|
|
NM_004006.3(DMD):c.5031C>G (p.Tyr1677Ter)
|
|
|
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)
|
rs886042154
|
|
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
|
|
|
NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter)
|
rs1603631744
|
|
NM_004006.3(DMD):c.5078_5079AGA[2]CGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG[1] (p.Trp1694delinsLysThrCysLeuArgTer)
|
|
|
NM_004006.3(DMD):c.5081G>A (p.Trp1694Ter)
|
|
|
NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)
|
rs1295394996
|
|
NM_004006.3(DMD):c.5100_5101del (p.Leu1701fs)
|
rs1060502647
|
|
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs)
|
rs2147253222
|
|
NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)
|
rs765445866
|
|
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)
|
rs398123979
|
|
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)
|
rs863225001
|
|
NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter)
|
rs398123980
|
|
NM_004006.3(DMD):c.5139del (p.Glu1714fs)
|
rs1557304860
|
|
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)
|
rs886042747
|
|
NM_004006.3(DMD):c.515_516dup (p.Ile173fs)
|
|
|
NM_004006.3(DMD):c.5167G>T (p.Glu1723Ter)
|
rs1603631705
|
|
NM_004006.3(DMD):c.516del (p.Ile173fs)
|
rs2148805979
|
|
NM_004006.3(DMD):c.5209C>T (p.Gln1737Ter)
|
rs2147234195
|
|
NM_004006.3(DMD):c.5255T>G (p.Leu1752Ter)
|
rs373428963
|
|
NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter)
|
rs1557303544
|
|
NM_004006.3(DMD):c.5273C>A (p.Ser1758Ter)
|
rs2147233083
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.528_529del (p.His176fs)
|
rs2148805788
|
|
NM_004006.3(DMD):c.531-1G>A
|
rs1569526579
|
|
NM_004006.3(DMD):c.531-1G>C
|
rs1569526579
|
|
NM_004006.3(DMD):c.531-2A>T
|
rs398123985
|
|
NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)
|
rs886039535
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
NM_004006.3(DMD):c.5326_5333del (p.Ala1776fs)
|
|
|
NM_004006.3(DMD):c.5339del (p.Pro1779_Leu1780insTer)
|
|
|
NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)
|
rs886044455
|
|
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)
|
rs777864641
|
|
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)
|
rs398123990
|
|
NM_004006.3(DMD):c.5358del (p.Phe1786fs)
|
rs1603631368
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5376del (p.Lys1792fs)
|
rs1603631367
|
|
NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter)
|
rs79541196
|
|
NM_004006.3(DMD):c.5387dup (p.Leu1797fs)
|
rs1603631365
|
|
NM_004006.3(DMD):c.5398G>T (p.Glu1800Ter)
|
rs2147064556
|
|
NM_004006.3(DMD):c.53del (p.Lys18fs)
|
rs1602766531
|
|
NM_004006.3(DMD):c.5404C>T (p.Gln1802Ter)
|
rs1386485242
|
|
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)
|
rs1557294228
|
|
NM_004006.3(DMD):c.5428G>T (p.Glu1810Ter)
|
|
|
NM_004006.3(DMD):c.5446dup (p.Met1816fs)
|
|
|
NM_004006.3(DMD):c.5449-1G>C
|
rs2147033447
|
|
NM_004006.3(DMD):c.5452G>T (p.Glu1818Ter)
|
rs2097762928
|
|
NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs)
|
rs1569559110
|
|
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)
|
rs863225002
|
|
NM_004006.3(DMD):c.5467dup (p.Thr1823fs)
|
rs2147033060
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
NM_004006.3(DMD):c.547dup (p.Trp183fs)
|
rs796065333
|
|
NM_004006.3(DMD):c.5487_5488del (p.Gly1831fs)
|
rs1569559106
|
|
NM_004006.3(DMD):c.548G>A (p.Trp183Ter)
|
|
|
NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)
|
rs770845480
|
|
NM_004006.3(DMD):c.5509_5512del (p.Arg1837fs)
|
rs2147032028
|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)
|
rs1557292678
|
|
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)
|
rs128625228
|
|
NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)
|
rs398123991
|
|
NM_004006.3(DMD):c.5559del (p.Leu1854fs)
|
|
|
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)
|
rs1569559097
|
|
NM_004006.3(DMD):c.5565_5568del (p.Thr1856fs)
|
|
|
NM_004006.3(DMD):c.5567del (p.Thr1856fs)
|
|
|
NM_004006.3(DMD):c.5595del (p.Arg1865fs)
|
rs1557291242
|
|
NM_004006.3(DMD):c.5602A>T (p.Arg1868Ter)
|
rs1557291229
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
NM_004006.3(DMD):c.5602dup (p.Arg1868fs)
|
|
|
NM_004006.3(DMD):c.5612dup (p.Ala1872fs)
|
|
|
NM_004006.3(DMD):c.5613_5640del (p.Lys1871fs)
|
rs1557291170
|
|
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)
|
rs1603631244
|
|
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter)
|
rs863225004
|
|
NM_004006.3(DMD):c.5646C>A (p.Tyr1882Ter)
|
rs2097753394
|
|
NM_004006.3(DMD):c.5647A>T (p.Lys1883Ter)
|
rs1060502623
|
|
NM_004006.3(DMD):c.5649del (p.Arg1884fs)
|
rs2146991715
|
|
NM_004006.3(DMD):c.5652del (p.Arg1884fs)
|
rs1057518692
|
|
NM_004006.3(DMD):c.5689G>T (p.Glu1897Ter)
|
rs1603631240
|
|
NM_004006.3(DMD):c.5689dup (p.Glu1897fs)
|
rs1603631241
|
|
NM_004006.3(DMD):c.568C>T (p.Gln190Ter)
|
rs2148751523
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5699T>A (p.Leu1900Ter)
|
rs1057518866
|
|
NM_004006.3(DMD):c.5704_5707del (p.Ser1902fs)
|
rs2097752909
|
|
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)
|
rs1569558953
|
|
NM_004006.3(DMD):c.572C>A (p.Ser191Ter)
|
rs794727863
|
|
NM_004006.3(DMD):c.5740-1G>T
|
rs2148813707
|
|
NM_004006.3(DMD):c.574_577del (p.Ala192fs)
|
rs2148751467
|
|
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)
|
rs1057520764
|
|
NM_004006.3(DMD):c.5771_5772del (p.Glu1924fs)
|
|
|
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter)
|
rs398123997
|
|
NM_004006.3(DMD):c.5773dup (p.Glu1925fs)
|
|
|
NM_004006.3(DMD):c.5812G>T (p.Glu1938Ter)
|
rs2097747311
|
|
NM_004006.3(DMD):c.5821dup (p.Ala1941fs)
|
rs1603631225
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)
|
rs773643220
|
|
NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)
|
rs1569558906
|
|
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)
|
rs794727666
|
|
NM_004006.3(DMD):c.5878G>T (p.Glu1960Ter)
|
rs2148812748
|
|
NM_004006.3(DMD):c.5884_5891del (p.Lys1962fs)
|
rs1060502646
|
|
NM_004006.3(DMD):c.589G>T (p.Glu197Ter)
|
rs1340365803
|
|
NM_004006.3(DMD):c.58del (p.Thr20fs)
|
rs1602766499
|
|
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)
|
rs863225005
|
|
NM_004006.3(DMD):c.5932del (p.Arg1978fs)
|
|
|
NM_004006.3(DMD):c.5953del (p.Val1984_Met1985insTer)
|
rs2148596228
|
|
NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter)
|
rs128627257
|
|
NM_004006.3(DMD):c.6014_6017del (p.Thr2005fs)
|
rs398124003
|
|
NM_004006.3(DMD):c.6021dup (p.Ser2008fs)
|
|
|
NM_004006.3(DMD):c.6023C>G (p.Ser2008Ter)
|
rs1603630431
|
|
NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter)
|
rs1569556943
|
|
NM_004006.3(DMD):c.6031del (p.Leu2011fs)
|
|
|
NM_004006.3(DMD):c.6040dup (p.Val2014fs)
|
|
|
NM_004006.3(DMD):c.6046C>T (p.Gln2016Ter)
|
|
|
NM_004006.3(DMD):c.6075dup (p.Lys2026Ter)
|
|
|
NM_004006.3(DMD):c.607_616del (p.Ala203fs)
|
rs2148750934
|
|
NM_004006.3(DMD):c.6099_6100delinsTT (p.Lys2033_Gln2034delinsAsnTer)
|
|
|
NM_004006.3(DMD):c.6118-1G>A
|
rs1060502656
|
|
NM_004006.3(DMD):c.6118-1G>C
|
rs1060502656
|
|
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)
|
rs863225006
|
|
NM_004006.3(DMD):c.6136C>T (p.Gln2046Ter)
|
rs2148457829
|
|
NM_004006.3(DMD):c.6146C>G (p.Ser2049Ter)
|
rs878911532
|
|
NM_004006.3(DMD):c.6151del (p.Arg2051fs)
|
rs1603629988
|
|
NM_004006.3(DMD):c.6154del (p.Ile2052fs)
|
|
|
NM_004006.3(DMD):c.615T>G (p.Tyr205Ter)
|
|
|
NM_004006.3(DMD):c.616C>T (p.Gln206Ter)
|
rs1603432076
|
|
NM_004006.3(DMD):c.6200del (p.Thr2067fs)
|
rs2148457196
|
|
NM_004006.3(DMD):c.6203del (p.Pro2068fs)
|
rs2097447725
|
|
NM_004006.3(DMD):c.6205del (p.Val2069fs)
|
rs1060502640
|
|
NM_004006.3(DMD):c.620T>A (p.Leu207Ter)
|
|
|
NM_004006.3(DMD):c.6213_6219del (p.Arg2071fs)
|
rs2148457026
|
|
NM_004006.3(DMD):c.6226G>T (p.Glu2076Ter)
|
rs398124007
|
|
NM_004006.3(DMD):c.6238C>T (p.Gln2080Ter)
|
rs1340785309
|
|
NM_004006.3(DMD):c.6250C>T (p.Gln2084Ter)
|
rs2148456727
|
|
NM_004006.3(DMD):c.6254G>A (p.Trp2085Ter)
|
rs2148456690
|
|
NM_004006.3(DMD):c.6259A>T (p.Lys2087Ter)
|
rs2148456625
|
|
NM_004006.3(DMD):c.627del (p.Ile209fs)
|
rs794727862
|
|
NM_004006.3(DMD):c.6290+2T>A
|
rs2097447247
|
|
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)
|
rs128626250
|
|
NM_004006.3(DMD):c.6300del (p.Asp2100fs)
|
rs1603628487
|
|
NM_004006.3(DMD):c.630del (p.Lys211fs)
|
rs1557047827
|
|
NM_004006.3(DMD):c.633dup (p.Leu212fs)
|
rs2148750700
|
|
NM_004006.3(DMD):c.6351_6366del (p.Asn2117fs)
|
rs2147865582
|
|
NM_004006.3(DMD):c.6356G>A (p.Trp2119Ter)
|
rs1603628485
|
|
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)
|
rs1603628483
|
|
NM_004006.3(DMD):c.635_636dup (p.Leu213fs)
|
rs1603432059
|
|
NM_004006.3(DMD):c.6364_6365del (p.Glu2122fs)
|
rs1603628482
|
|
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)
|
rs128626251
|
|
NM_004006.3(DMD):c.6377_6378del (p.Phe2126fs)
|
rs2147865476
|
|
NM_004006.3(DMD):c.6382A>T (p.Arg2128Ter)
|
|
|
NM_004006.3(DMD):c.6391_6392del (p.Gln2131fs)
|
rs398124012
|
|
NM_004006.3(DMD):c.6391_6392dup (p.Gln2131fs)
|
rs398124012
|
|
NM_004006.3(DMD):c.6404del (p.Asn2135fs)
|
|
|
NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter)
|
rs1557218131
|
|
NM_004006.3(DMD):c.6421del (p.Tyr2141fs)
|
|
|
NM_004006.3(DMD):c.6423C>G (p.Tyr2141Ter)
|
rs1425702864
|
|
NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer)
|
rs1557218093
|
|
NM_004006.3(DMD):c.6424A>T (p.Lys2142Ter)
|
rs1557218076
|
|
NM_004006.3(DMD):c.646G>T (p.Glu216Ter)
|
rs2148750599
|
|
NM_004006.3(DMD):c.6474del (p.Val2159fs)
|
rs2095370524
|
|
NM_004006.3(DMD):c.6485T>A (p.Leu2162Ter)
|
|
|
NM_004006.3(DMD):c.650-1827_771del
|
|
|
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)
|
rs779739455
|
|
NM_004006.3(DMD):c.6528del (p.Asp2177fs)
|
rs2150187539
|
|
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)
|
rs1557038061
|
|
NM_004006.3(DMD):c.656dup (p.Asp219fs)
|
rs1556930839
|
|
NM_004006.3(DMD):c.6578del (p.Gln2193fs)
|
|
|
NM_004006.3(DMD):c.6592C>T (p.Gln2198Ter)
|
rs2150187018
|
|
NM_004006.3(DMD):c.6610_6611del (p.Lys2204fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6611del (p.Lys2204fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
|
|
|
NM_004006.3(DMD):c.6614+1G>A
|
|
|
NM_004006.3(DMD):c.6614+1G>C
|
rs2150186856
|
|
NM_004006.3(DMD):c.6614+2T>C
|
rs1060502641
|
|
NM_004006.3(DMD):c.6615-1G>A
|
|
|
NM_004006.3(DMD):c.6615-2A>G
|
rs1557011973
|
|
NM_004006.3(DMD):c.6615-2A>T
|
rs1557011973
|
|
NM_004006.3(DMD):c.6622G>T (p.Glu2208Ter)
|
rs2094864356
|
|
NM_004006.3(DMD):c.6629del (p.Lys2210fs)
|
rs2094864231
|
|
NM_004006.3(DMD):c.6652dup (p.Arg2218fs)
|
|
|
NM_004006.3(DMD):c.6662del (p.Asn2221fs)
|
rs1060502620
|
|
NM_004006.3(DMD):c.666T>G (p.Tyr222Ter)
|
rs1603151699
|
|
NM_004006.3(DMD):c.666dup (p.Pro223fs)
|
|
|
NM_004006.3(DMD):c.6677G>A (p.Trp2226Ter)
|
rs2150001671
|
|
NM_004006.3(DMD):c.6704del (p.Ser2235fs)
|
rs2094862793
|
|
NM_004006.3(DMD):c.6721G>T (p.Gly2241Ter)
|
rs2150001373
|
|
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del)
|
rs398124034
|
|
NM_004006.3(DMD):c.6751G>T (p.Glu2251Ter)
|
|
|
NM_004006.3(DMD):c.6754C>T (p.Gln2252Ter)
|
rs1603615883
|
|
NM_004006.3(DMD):c.6760A>T (p.Lys2254Ter)
|
rs201818335
|
|
NM_004006.3(DMD):c.6762+1G>A
|
rs886039534
|
|
NM_004006.3(DMD):c.6776_6792del (p.Glu2259fs)
|
rs2149990101
|
|
NM_004006.3(DMD):c.6790C>T (p.Gln2264Ter)
|
rs128626252
|
|
NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs)
|
rs886044490
|
|
NM_004006.3(DMD):c.6838dup (p.Ser2280fs)
|
rs2149989683
|
|
NM_004006.3(DMD):c.6840del (p.Ser2280fs)
|
rs2149989620
|
|
NM_004006.3(DMD):c.6859G>T (p.Glu2287Ter)
|
|
|
NM_004006.3(DMD):c.686T>G (p.Leu229Ter)
|
rs1556930769
|
|
NM_004006.3(DMD):c.6901C>T (p.Gln2301Ter)
|
rs2094827204
|
|
NM_004006.3(DMD):c.6907del (p.Trp2302_Ile2303insTer)
|
|
|
NM_004006.3(DMD):c.6913-1G>C
|
|
|
NM_004006.3(DMD):c.6913-1G>T
|
rs1603514271
|
|
NM_004006.3(DMD):c.6913-2A>C
|
rs1603514272
|
|
NM_004006.3(DMD):c.6913-2A>T
|
rs1603514272
|
|
NM_004006.3(DMD):c.6923del (p.Ala2308fs)
|
|
|
NM_004006.3(DMD):c.6924_6928del (p.Ala2308_Leu2309insTer)
|
|
|
NM_004006.3(DMD):c.692del (p.Tyr231fs)
|
rs2147606440
|
|
NM_004006.3(DMD):c.6937C>T (p.Gln2313Ter)
|
rs2149680612
|
|
NM_004006.3(DMD):c.693C>G (p.Tyr231Ter)
|
rs374222301
|
|
NM_004006.3(DMD):c.6949G>T (p.Glu2317Ter)
|
rs2149680574
|
|
NM_004006.3(DMD):c.6955C>T (p.Gln2319Ter)
|
rs128625230
|
|
NM_004006.3(DMD):c.6964del (p.Asp2322fs)
|
rs398124039
|
|
NM_004006.3(DMD):c.6967del (p.Gln2325fs)
|
|
|
NM_004006.3(DMD):c.6985A>T (p.Lys2329Ter)
|
|
|
NM_004006.3(DMD):c.6986_6987insTATATGGATCACATATACTCATCAGTGATTGTTCAGTAGTGAGCTGTGGGTCCTGCAGGAGCCAGCCAGTCTCCAA (p.Lys2329delinsAsnIleTrpIleThrTyrThrHisGlnTer)
|
|
|
NM_004006.3(DMD):c.6986del (p.Lys2329fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.6986dup (p.Leu2330fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.699_703del (p.Ser234fs)
|
|
|
NM_004006.3(DMD):c.699_703dup (p.Leu235fs)
|
rs1569469298
|
|
NM_004006.3(DMD):c.69dup (p.Trp24fs)
|
rs2147755217
|
|
NM_004006.3(DMD):c.7025_7026insTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATCATCTGCTGCT (p.Leu2342_Trp2343insGlyPheLeuPheLeuArgTer)
|
|
|
NM_004006.3(DMD):c.7027del (p.Trp2343fs)
|
rs1603513828
|
|
NM_004006.3(DMD):c.7028G>A (p.Trp2343Ter)
|
rs1603513817
|
|
NM_004006.3(DMD):c.7029G>A (p.Trp2343Ter)
|
rs1603513803
|
|
NM_004006.3(DMD):c.7048C>T (p.Gln2350Ter)
|
rs2149679978
|
|
NM_004006.3(DMD):c.7048_7057del (p.Gln2350fs)
|
rs1603513697
|
|
NM_004006.3(DMD):c.7060del (p.Tyr2354fs)
|
rs2149679899
|
|
NM_004006.3(DMD):c.7062T>A (p.Tyr2354Ter)
|
|
|
NM_004006.3(DMD):c.7066C>T (p.Gln2356Ter)
|
rs1603513684
|
|
NM_004006.3(DMD):c.7068_7069del (p.Gln2356fs)
|
rs1060502659
|
|
NM_004006.3(DMD):c.7068del (p.Gln2356fs)
|
rs1603513680
|
|
NM_004006.3(DMD):c.7075C>T (p.Gln2359Ter)
|
rs2149679784
|
|
NM_004006.3(DMD):c.7077_7078delinsT (p.Gln2359fs)
|
rs2149679748
|
|
NM_004006.3(DMD):c.7098+1G>A
|
rs1556962223
|
|
NM_004006.3(DMD):c.7098+1G>C
|
|
|
NM_004006.3(DMD):c.7098+1G>T
|
rs1556962223
|
|
NM_004006.3(DMD):c.709del (p.Gln237fs)
|
rs1603150993
|
|
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)
|
rs863225008
|
|
NM_004006.3(DMD):c.7132del (p.Asp2378fs)
|
|
|
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)
|
rs1556930579
|
|
NM_004006.3(DMD):c.7179dup (p.Pro2394fs)
|
rs2093207581
|
|
NM_004006.3(DMD):c.71G>A (p.Trp24Ter)
|
rs2147755143
|
|
NM_004006.3(DMD):c.7231A>T (p.Lys2411Ter)
|
|
|
NM_004006.3(DMD):c.7241_7243delinsGTTT (p.Asn2414fs)
|
rs1064792967
|
|
NM_004006.3(DMD):c.7241dup (p.Asn2414fs)
|
|
|
NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)
|
rs1569452000
|
|
NM_004006.3(DMD):c.7247dup (p.Leu2416fs)
|
rs797044764
|
|
NM_004006.3(DMD):c.724C>T (p.Gln242Ter)
|
rs128626238
|
|
NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)
|
rs1569451994
|
|
NM_004006.3(DMD):c.7268del (p.Lys2423fs)
|
rs1556917057
|
|
NM_004006.3(DMD):c.7309+1G>A
|
rs398124044
|
|
NM_004006.3(DMD):c.7309+1G>T
|
rs398124044
|
|
NM_004006.3(DMD):c.7310-1G>A
|
rs1556880354
|
|
NM_004006.3(DMD):c.7310-2A>G
|
|
|
NM_004006.3(DMD):c.7334del (p.Val2445fs)
|
|
|
NM_004006.3(DMD):c.7378G>T (p.Glu2460Ter)
|
rs2090513299
|
|
NM_004006.3(DMD):c.7381del (p.Met2461fs)
|
rs2149245287
|
|
NM_004006.3(DMD):c.7398del (p.Met2466fs)
|
|
|
NM_004006.3(DMD):c.7400T>A (p.Leu2467Ter)
|
rs1254776844
|
|
NM_004006.3(DMD):c.7402G>T (p.Glu2468Ter)
|
rs128626253
|
|
NM_004006.3(DMD):c.7427del (p.Asn2476fs)
|
|
|
NM_004006.3(DMD):c.7437G>A (p.Trp2479Ter)
|
rs2149245072
|
|
NM_004006.3(DMD):c.7449del (p.Asp2484fs)
|
rs2149244988
|
|
NM_004006.3(DMD):c.7454G>A (p.Trp2485Ter)
|
rs142500746
|
|
NM_004006.3(DMD):c.745C>T (p.Gln249Ter)
|
rs2147604940
|
|
NM_004006.3(DMD):c.7471C>T (p.Gln2491Ter)
|
rs2149244826
|
|
NM_004006.3(DMD):c.7471del (p.Gln2491fs)
|
|
|
NM_004006.3(DMD):c.748G>T (p.Glu250Ter)
|
rs128626239
|
|
NM_004006.3(DMD):c.7522G>T (p.Glu2508Ter)
|
|
|
NM_004006.3(DMD):c.7542+1G>A
|
rs2149244412
|
|
NM_004006.3(DMD):c.7564C>T (p.Gln2522Ter)
|
rs1603452207
|
|
NM_004006.3(DMD):c.7576C>T (p.Gln2526Ter)
|
rs2149018402
|
|
NM_004006.3(DMD):c.7577dup (p.Leu2527fs)
|
rs2086356460
|
|
NM_004006.3(DMD):c.7585G>T (p.Glu2529Ter)
|
rs771509836
|
|
NM_004006.3(DMD):c.7603C>T (p.Gln2535Ter)
|
rs2149018213
|
|
NM_004006.3(DMD):c.7616dup (p.Asn2539fs)
|
rs1603452196
|
|
NM_004006.3(DMD):c.7618_7619del (p.Lys2540fs)
|
rs2086354048
|
|
NM_004006.3(DMD):c.7629_7632del (p.Asn2543fs)
|
rs2149018065
|
|
NM_004006.3(DMD):c.7651dup (p.Thr2551fs)
|
rs2149017933
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
NM_004006.3(DMD):c.7660+2T>G
|
|
|
NM_004006.3(DMD):c.7661-1G>A
|
rs1556806346
|
|
NM_004006.3(DMD):c.7661-2A>G
|
rs1556806356
|
|
NM_004006.3(DMD):c.7672C>T (p.Gln2558Ter)
|
rs398124051
|
|
NM_004006.3(DMD):c.7680del (p.Gln2560fs)
|
rs2148734269
|
|
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)
|
rs1603445344
|
|
NM_004006.3(DMD):c.7717C>T (p.Gln2573Ter)
|
rs1603445332
|
|
NM_004006.3(DMD):c.7720C>T (p.Gln2574Ter)
|
rs2082260996
|
|
NM_004006.3(DMD):c.7736T>A (p.Leu2579Ter)
|
rs2082260036
|
|
NM_004006.3(DMD):c.774dup (p.Lys259Ter)
|
rs1603150335
|
|
NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter)
|
rs762394978
|
|
NM_004006.3(DMD):c.7768G>T (p.Glu2590Ter)
|
rs2082258116
|
|
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)
|
rs398124055
|
|
NM_004006.3(DMD):c.7781del (p.Gln2594fs)
|
rs878854621
|
|
NM_004006.3(DMD):c.7792C>T (p.Gln2598Ter)
|
rs2148733074
|
|
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter)
|
rs863225009
|
|
NM_004006.3(DMD):c.7822G>T (p.Glu2608Ter)
|
rs2148732716
|
|
NM_004006.3(DMD):c.7833_7834dup (p.Thr2612fs)
|
|
|
NM_004006.3(DMD):c.783_793del (p.Lys262fs)
|
rs2147604021
|
|
NM_004006.3(DMD):c.7852A>T (p.Lys2618Ter)
|
rs2082253437
|
|
NM_004006.3(DMD):c.7853del (p.Lys2618fs)
|
|
|
NM_004006.3(DMD):c.7858dup (p.Ile2620fs)
|
rs1603445283
|
|
NM_004006.3(DMD):c.7872+1G>A
|
rs1603445278
|
|
NM_004006.3(DMD):c.7872+2T>A
|
rs1603445277
|
|
NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)
|
rs398124058
|
|
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)
|
rs1556790316
|
|
NM_004006.3(DMD):c.790G>T (p.Glu264Ter)
|
rs2147604088
|
|
NM_004006.3(DMD):c.7992_7993del (p.Asn2665fs)
|
rs2148615195
|
|
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)
|
rs878854383
|
|
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)
|
rs1569186252
|
|
NM_004006.3(DMD):c.8026del (p.Arg2676fs)
|
|
|
NM_004006.3(DMD):c.8027+1G>A
|
rs1556789913
|
|
NM_004006.3(DMD):c.8027+1G>T
|
rs1556789913
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
NM_004006.3(DMD):c.8028-1G>T
|
rs2148423696
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
NM_004006.3(DMD):c.8064_8065del (p.His2688fs)
|
rs398124060
|
|
NM_004006.3(DMD):c.8066_8070del (p.Arg2689fs)
|
rs1556764934
|
|
NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter)
|
rs1556764922
|
|
NM_004006.3(DMD):c.8086del (p.Leu2696fs)
|
rs398124062
|
|
NM_004006.3(DMD):c.8087del (p.Leu2696fs)
|
|
|
NM_004006.3(DMD):c.8091_8098dup (p.Lys2700fs)
|
|
|
NM_004006.3(DMD):c.8096_8112del (p.Glu2699fs)
|
rs1556764880
|
|
NM_004006.3(DMD):c.811C>T (p.Gln271Ter)
|
rs2063890662
|
|
NM_004006.3(DMD):c.8128del (p.Thr2710fs)
|
|
|
NM_004006.3(DMD):c.8145dup (p.Gln2716fs)
|
rs1603430181
|
|
NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter)
|
rs1603430178
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)
|
rs1556764743
|
|
NM_004006.3(DMD):c.8209C>T (p.Gln2737Ter)
|
rs1060502621
|
|
NM_004006.3(DMD):c.8214G>A (p.Trp2738Ter)
|
rs2078916448
|
|
NM_004006.3(DMD):c.8215C>T (p.Gln2739Ter)
|
rs2148421666
|
|
NM_004006.3(DMD):c.8217+2T>G
|
rs2148421651
|
|
NM_004006.3(DMD):c.8218-2A>G
|
rs886039478
|
|
NM_004006.3(DMD):c.8224C>T (p.Gln2742Ter)
|
rs2147177872
|
|
NM_004006.3(DMD):c.822T>A (p.Tyr274Ter)
|
rs1603149954
|
|
NM_004006.3(DMD):c.826C>T (p.Gln276Ter)
|
rs2147603245
|
|
NM_004006.3(DMD):c.8273del (p.Asn2758fs)
|
rs2147177179
|
|
NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter)
|
rs1603280796
|
|
NM_004006.3(DMD):c.8284del (p.Ile2762fs)
|
rs2071057426
|
|
NM_004006.3(DMD):c.8284dup (p.Ile2762fs)
|
rs2071057426
|
|
NM_004006.3(DMD):c.8299G>T (p.Glu2767Ter)
|
rs1603280745
|
|
NM_004006.3(DMD):c.831+1G>A
|
rs1239018406
|
|
NM_004006.3(DMD):c.831+1G>C
|
rs1239018406
|
|
NM_004006.3(DMD):c.831+1G>T
|
rs1239018406
|
|
NM_004006.3(DMD):c.831G>A (p.Gln277=)
|
rs398124067
|
|
NM_004006.3(DMD):c.832-186T>G
|
|
|
NM_004006.3(DMD):c.8326del (p.Gln2776fs)
|
rs1603280686
|
|
NM_004006.3(DMD):c.8344_8359dup (p.Ser2787fs)
|
rs2147175548
|
|
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)
|
rs863225012
|
|
NM_004006.3(DMD):c.8358G>A (p.Trp2786Ter)
|
rs398124068
|
|
NM_004006.3(DMD):c.8368del (p.Arg2790fs)
|
|
|
NM_004006.3(DMD):c.8374_8375del (p.Lys2792fs)
|
rs398124070
|
|
NM_004006.3(DMD):c.8390+1G>A
|
rs1064794569
|
|
NM_004006.3(DMD):c.8390+2T>C
|
rs863225013
|
|
NM_004006.3(DMD):c.8390+2T>G
|
|
|
NM_004006.3(DMD):c.8391-1G>A
|
rs1603264731
|
|
NM_004006.3(DMD):c.8395del (p.His2799fs)
|
rs2069923072
|
|
NM_004006.3(DMD):c.839del (p.Val280fs)
|
rs1603137168
|
|
NM_004006.3(DMD):c.8403del (p.Ala2802fs)
|
|
|
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)
|
rs2147076500
|
|
NM_004006.3(DMD):c.8417del (p.Gln2806fs)
|
rs1603264705
|
|
NM_004006.3(DMD):c.8420G>A (p.Trp2807Ter)
|
rs2147076359
|
|
NM_004006.3(DMD):c.8421G>A (p.Trp2807Ter)
|
rs2147076330
|
|
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter)
|
rs398124072
|
|
NM_004006.3(DMD):c.8451del (p.Leu2818fs)
|
rs1603264659
|
|
NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter)
|
rs1603264641
|
|
NM_004006.3(DMD):c.8479G>T (p.Glu2827Ter)
|
rs2147075563
|
|
NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter)
|
rs753225356
|
|
NM_004006.3(DMD):c.8530C>T (p.Gln2844Ter)
|
|
|
NM_004006.3(DMD):c.8548-2A>G
|
rs2068042914
|
|
NM_004006.3(DMD):c.8560G>T (p.Glu2854Ter)
|
|
|
NM_004006.3(DMD):c.8564T>A (p.Leu2855Ter)
|
|
|
NM_004006.3(DMD):c.8569del (p.Thr2857fs)
|
rs1603226023
|
|
NM_004006.3(DMD):c.8572A>T (p.Lys2858Ter)
|
rs2149257421
|
|
NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)
|
rs1556656851
|
|
NM_004006.3(DMD):c.8577_8578insGT (p.Pro2860fs)
|
|
|
NM_004006.3(DMD):c.8579del (p.Pro2860fs)
|
rs1556656847
|
|
NM_004006.3(DMD):c.857dup (p.Tyr286Ter)
|
rs1556929259
|
|
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
|
rs2068038543
|
|
NM_004006.3(DMD):c.8598_8599insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTATCCAGGATGGTCTCGATCTCCTGAACAATCATGAGTACTCTT (p.Glu2867delinsPhePhePhePhePhePheXaaXaaXaaXaaArgProProProArgProAlaAsnPheLeuTyrPheTer)
|
rs2149257310
|
|
NM_004006.3(DMD):c.859G>T (p.Glu287Ter)
|
|
|
NM_004006.3(DMD):c.8604dup (p.Val2869fs)
|
rs1556656818
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
NM_004006.3(DMD):c.8626C>T (p.Gln2876Ter)
|
rs2068036881
|
|
NM_004006.3(DMD):c.8627dup (p.Pro2877fs)
|
|
|
NM_004006.3(DMD):c.8652_8653del (p.Tyr2885fs)
|
rs398124075
|
|
NM_004006.3(DMD):c.8655C>A (p.Tyr2885Ter)
|
rs1569546174
|
|
NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)
|
rs201361100
|
|
NM_004006.3(DMD):c.8669-1G>C
|
rs886044324
|
|
NM_004006.3(DMD):c.8669-2A>T
|
rs794727770
|
|
NM_004006.3(DMD):c.8675del (p.Pro2892fs)
|
rs1556656487
|
|
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)
|
rs727503802
|
|
NM_004006.3(DMD):c.8683dup (p.Glu2895fs)
|
rs1556656456
|
|
NM_004006.3(DMD):c.8692C>T (p.Gln2898Ter)
|
rs2149254230
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
NM_004006.3(DMD):c.8731del (p.Val2911fs)
|
rs1603223025
|
|
NM_004006.3(DMD):c.8744G>A (p.Trp2915Ter)
|
rs1603222922
|
|
NM_004006.3(DMD):c.8745G>A (p.Trp2915Ter)
|
rs761750882
|
|
NM_004006.3(DMD):c.8746del (p.Glu2916fs)
|
rs1603222897
|
|
NM_004006.3(DMD):c.8756_8763del (p.Asn2919fs)
|
rs2067963703
|
|
NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)
|
rs868688877
|
|
NM_004006.3(DMD):c.8776C>T (p.Gln2926Ter)
|
rs2149253473
|
|
NM_004006.3(DMD):c.8797del (p.Glu2934fs)
|
rs1603222574
|
|
NM_004006.3(DMD):c.8800del (p.Glu2934fs)
|
rs2149253335
|
|
NM_004006.3(DMD):c.8817del (p.Gln2940fs)
|
rs1603222424
|
|
NM_004006.3(DMD):c.8821G>T (p.Glu2941Ter)
|
rs2067953453
|
|
NM_004006.3(DMD):c.8833G>T (p.Glu2945Ter)
|
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
NM_004006.3(DMD):c.883_901dup (p.Tyr301fs)
|
|
|
NM_004006.3(DMD):c.8853_8865del (p.Gln2952fs)
|
rs2149252891
|
|
NM_004006.3(DMD):c.8859dup (p.Glu2954Ter)
|
|
|
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)
|
rs1556656184
|
|
NM_004006.3(DMD):c.8881C>T (p.Gln2961Ter)
|
rs1603222095
|
|
NM_004006.3(DMD):c.88del (p.Ser30fs)
|
rs2093885666
|
|
NM_004006.3(DMD):c.8912_8913del (p.Leu2971fs)
|
rs398124078
|
|
NM_004006.3(DMD):c.8912_8913dup (p.Gln2972fs)
|
rs398124078
|
|
NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter)
|
rs1060502633
|
|
NM_004006.3(DMD):c.8923del (p.Leu2975fs)
|
rs1603221854
|
|
NM_004006.3(DMD):c.8937+1G>C
|
rs1556656077
|
|
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)
|
rs128625229
|
|
NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)
|
rs2065154326
|
|
NM_004006.3(DMD):c.8970_8971del (p.Asn2991fs)
|
rs863225014
|
|
NM_004006.3(DMD):c.8992del (p.Ala2999fs)
|
rs1602938385
|
|
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)
|
rs2065150560
|
|
NM_004006.3(DMD):c.9022C>T (p.Gln3008Ter)
|
rs1602937974
|
|
NM_004006.3(DMD):c.903C>A (p.Tyr301Ter)
|
rs2147581521
|
|
NM_004006.3(DMD):c.9040dup (p.Leu3014fs)
|
rs1556641290
|
|
NM_004006.3(DMD):c.9060del (p.Asn3021fs)
|
|
|
NM_004006.3(DMD):c.9085_9086insA (p.Val3029fs)
|
rs1602056443
|
|
NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)
|
rs72466562
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
NM_004006.3(DMD):c.9110del (p.Gln3037fs)
|
|
|
NM_004006.3(DMD):c.9147_9148del (p.Gln3050fs)
|
|
|
NM_004006.3(DMD):c.9156dup (p.Leu3053fs)
|
rs2148491730
|
|
NM_004006.3(DMD):c.9164-2A>G
|
rs2148297581
|
|
NM_004006.3(DMD):c.9172C>T (p.Gln3058Ter)
|
|
|
NM_004006.3(DMD):c.9173del (p.Gln3058fs)
|
rs2148297423
|
|
NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)
|
rs1556503937
|
|
NM_004006.3(DMD):c.9184dup (p.Glu3062fs)
|
|
|
NM_004006.3(DMD):c.9189_9190del (p.Arg3063fs)
|
rs1601864055
|
|
NM_004006.3(DMD):c.918T>A (p.Tyr306Ter)
|
rs149106712
|
|
NM_004006.3(DMD):c.9197C>A (p.Ser3066Ter)
|
rs128626254
|
|
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)
|
rs863225015
|
|
NM_004006.3(DMD):c.9219_9222del (p.Tyr3072_Tyr3073insTer)
|
rs2056573240
|
|
NM_004006.3(DMD):c.9224+1G>A
|
rs1569526122
|
|
NM_004006.3(DMD):c.9225-1G>T
|
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
NM_004006.3(DMD):c.9225-2A>T
|
rs2147649643
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
NM_004006.3(DMD):c.9238_9241del (p.Thr3080fs)
|
rs1060502624
|
|
NM_004006.3(DMD):c.9249_9250delinsAC (p.Trp3083_Asp3084delinsTer)
|
|
|
NM_004006.3(DMD):c.9268G>T (p.Glu3090Ter)
|
rs2147648996
|
|
NM_004006.3(DMD):c.9269_9270del (p.Glu3090fs)
|
rs1603253563
|
|
NM_004006.3(DMD):c.9287-2A>T
|
rs2147071947
|
|
NM_004006.3(DMD):c.93+1G>A
|
rs886042604
|
|
NM_004006.3(DMD):c.93+1G>T
|
rs886042604
|
|
NM_004006.3(DMD):c.93+2T>A
|
rs1602765856
|
|
NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter)
|
rs2147071577
|
|
NM_004006.3(DMD):c.9318T>A (p.Tyr3106Ter)
|
|
|
NM_004006.3(DMD):c.9324dup (p.Ala3109fs)
|
rs2147071440
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
NM_004006.3(DMD):c.9344del (p.Leu3115fs)
|
rs1602947628
|
|
NM_004006.3(DMD):c.9361+1G>A
|
rs398124094
|
|
NM_004006.3(DMD):c.9361+1G>C
|
rs398124094
|
|
NM_004006.3(DMD):c.9362-1215A>G
|
rs2148603634
|
|
NM_004006.3(DMD):c.9380C>A (p.Ser3127Ter)
|
rs1602730254
|
|
NM_004006.3(DMD):c.9398del (p.Leu3133fs)
|
rs2148592682
|
|
NM_004006.3(DMD):c.93_93+14del
|
rs1602765633
|
|
NM_004006.3(DMD):c.94-2A>C
|
rs1603448428
|
|
NM_004006.3(DMD):c.9415A>T (p.Lys3139Ter)
|
rs1060502628
|
|
NM_004006.3(DMD):c.9432del (p.Met3145fs)
|
rs2044445392
|
|
NM_004006.3(DMD):c.9434del (p.Met3145fs)
|
rs1060502648
|
|
NM_004006.3(DMD):c.9445C>T (p.Gln3149Ter)
|
rs2148592023
|
|
NM_004006.3(DMD):c.9457del (p.Cys3153fs)
|
rs2148591945
|
|
NM_004006.3(DMD):c.9468del (p.Ile3157fs)
|
rs1602728959
|
|
NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs)
|
rs886039532
|
|
NM_004006.3(DMD):c.9519_9520del (p.Cys3174fs)
|
rs2148591114
|
|
NM_004006.3(DMD):c.9551dup (p.Asn3184fs)
|
rs863225017
|
|
NM_004006.3(DMD):c.9557_9558del (p.Val3185_Tyr3186insTer)
|
|
|
NM_004006.3(DMD):c.9562dup (p.Thr3188fs)
|
|
|
NM_004006.3(DMD):c.9563+1215A>G
|
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
NM_004006.3(DMD):c.9563+1G>T
|
rs886043989
|
|
NM_004006.3(DMD):c.9563+2T>A
|
rs1602727611
|
|
NM_004006.3(DMD):c.9564-2A>G
|
rs1602696519
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004006.3(DMD):c.956C>A (p.Ser319Ter)
|
|
|
NM_004006.3(DMD):c.958C>T (p.Gln320Ter)
|
|
|
NM_004006.3(DMD):c.9600_9601del (p.Lys3200fs)
|
|
|
NM_004006.3(DMD):c.961-1G>A
|
rs1602469384
|
|
NM_004006.3(DMD):c.961-1G>C
|
rs1602469384
|
|
NM_004006.3(DMD):c.961-2A>G
|
rs2146836134
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
NM_004006.3(DMD):c.9619_9626del (p.Cys3207fs)
|
|
|
NM_004006.3(DMD):c.9621T>A (p.Cys3207Ter)
|
rs1057524037
|
|
NM_004006.3(DMD):c.9624del (p.Ala3209fs)
|
rs2148564212
|
|
NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)
|
rs1569463953
|
|
NM_004006.3(DMD):c.9634del (p.Glu3212fs)
|
|
|
NM_004006.3(DMD):c.9645C>G (p.Tyr3215Ter)
|
rs2148563935
|
|
NM_004006.3(DMD):c.9649+1G>A
|
rs1556256329
|
|
NM_004006.3(DMD):c.9649+5G>A
|
|
|
NM_004006.3(DMD):c.9649+5G>C
|
rs1602695527
|
|
NM_004006.3(DMD):c.9668_9669insG (p.Ser3224fs)
|
rs2148541841
|
|
NM_004006.3(DMD):c.9712_9713insA (p.Leu3238fs)
|
|
|
NM_004006.3(DMD):c.971del (p.Ala324fs)
|
rs1602469251
|
|
NM_004006.3(DMD):c.9730del (p.Ile3244fs)
|
rs1602669026
|
|
NM_004006.3(DMD):c.9739C>T (p.Gln3247Ter)
|
rs2148541048
|
|
NM_004006.3(DMD):c.9749_9767dup (p.Asn3258fs)
|
rs2148540742
|
|
NM_004006.3(DMD):c.976G>T (p.Glu326Ter)
|
rs2059702093
|
|
NM_004006.3(DMD):c.9802del (p.Gln3268fs)
|
rs2148540548
|
|
NM_004006.3(DMD):c.9807+1G>A
|
rs1569460610
|
|
NM_004006.3(DMD):c.9807+1G>C
|
rs1569460610
|
|
NM_004006.3(DMD):c.9807+2T>A
|
|
|
NM_004006.3(DMD):c.9807+5G>C
|
rs1569460607
|
|
NM_004006.3(DMD):c.9808-1G>A
|
rs2148335739
|
|
NM_004006.3(DMD):c.9808-1G>T
|
|
|
NM_004006.3(DMD):c.9808-2A>T
|
rs1602456486
|
|
NM_004006.3(DMD):c.9829G>T (p.Glu3277Ter)
|
rs1602456175
|
|
NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)
|
rs398124104
|
|
NM_004006.3(DMD):c.9852G>A (p.Trp3284Ter)
|
rs2041309291
|
|
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs)
|
rs398124105
|
|
NM_004006.3(DMD):c.9868C>T (p.Gln3290Ter)
|
rs2041306808
|
|
NM_004006.3(DMD):c.9868del (p.Gln3290fs)
|
rs1602455747
|
|
NM_004006.3(DMD):c.9881_9890del (p.Trp3294fs)
|
rs1556046080
|
|
NM_004006.3(DMD):c.9884dup (p.Pro3296fs)
|
|
|
NM_004006.3(DMD):c.9887_9908del (p.Pro3296fs)
|
rs1602455302
|
|
NM_004006.3(DMD):c.9897_9898del (p.His3299fs)
|
rs2041303734
|
|
NM_004006.3(DMD):c.9913G>T (p.Glu3305Ter)
|
rs2148334279
|
|
NM_004006.3(DMD):c.9928C>T (p.Gln3310Ter)
|
rs104894789
|
|
NM_004006.3(DMD):c.9938_9941dup (p.Asn3314delinsLysTer)
|
rs863225018
|
|
NM_004006.3(DMD):c.9950_9951del (p.Lys3317fs)
|
rs1602454747
|
|
NM_004006.3(DMD):c.9974+175T>A
|
rs1602451773
|
|
NM_004006.3(DMD):c.9974+2T>A
|
rs2148333619
|
|
NM_004006.3(DMD):c.9974+2T>G
|
|
|
NM_004006.3(DMD):c.9975-1G>A
|
rs1556040444
|
|
NM_004006.3(DMD):c.9975-1G>T
|
rs1556040444
|
|
NM_004006.3(DMD):c.9975-2A>C
|
rs886044502
|
|
NM_004006.3(DMD):c.998C>A (p.Ser333Ter)
|
rs1602468968
|
|
NM_004006.3(DMD):c.99dup (p.Lys34fs)
|
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
NM_004006.3(DMD):c.[10086+1G>T;10126del]
|
|
|
Single allele
|
|
|