NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_004006.3(DMD):c.3604-12T>A
|
rs183613970
|
0.00123
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
NM_004006.3(DMD):c.4072-245C>T
|
rs140237546
|
0.00046
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004006.3(DMD):c.9225-5819G>T
|
rs377152944
|
0.00026
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004006.3(DMD):c.32-14A>G
|
rs367757761
|
0.00015
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)
|
rs876657778
|
0.00009
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)
|
rs146020545
|
0.00008
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00007
|
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)
|
rs750349613
|
0.00007
|
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)
|
rs377412251
|
0.00007
|
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00007
|
NM_004006.3(DMD):c.*24G>A
|
rs372284841
|
0.00006
|
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)
|
rs146384458
|
0.00006
|
NM_004006.3(DMD):c.43G>C (p.Asp15His)
|
rs876657780
|
0.00006
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)
|
rs398123982
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)
|
rs373481995
|
0.00005
|
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)
|
rs777510517
|
0.00004
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser)
|
rs910214749
|
0.00004
|
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)
|
rs144717862
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)
|
rs201532491
|
0.00004
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)
|
rs181284440
|
0.00004
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro)
|
rs766325631
|
0.00003
|
NM_004006.3(DMD):c.31+83105G>A
|
rs772161214
|
0.00003
|
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr)
|
rs398123956
|
0.00003
|
NM_004006.3(DMD):c.298G>A (p.Val100Ile)
|
rs779099343
|
0.00002
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)
|
rs371646182
|
0.00002
|
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)
|
rs1431604157
|
0.00002
|
NM_004006.3(DMD):c.9695G>A (p.Arg3232His)
|
rs751095907
|
0.00002
|
NM_004006.3(DMD):c.1000T>A (p.Leu334Met)
|
rs1280415176
|
0.00001
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
NM_004006.3(DMD):c.1047A>T (p.Glu349Asp)
|
rs1044325754
|
0.00001
|
NM_004006.3(DMD):c.2905G>A (p.Val969Ile)
|
rs750582245
|
0.00001
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg)
|
rs876657779
|
0.00001
|
NM_004006.3(DMD):c.4258C>T (p.His1420Tyr)
|
rs1475038240
|
0.00001
|
NM_004006.3(DMD):c.5518G>C (p.Asp1840His)
|
rs905571950
|
0.00001
|
NM_004006.3(DMD):c.5739+8T>C
|
rs1321625981
|
0.00001
|
NM_004006.3(DMD):c.5986G>A (p.Val1996Met)
|
rs2097556758
|
0.00001
|
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)
|
rs140791274
|
0.00001
|
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln)
|
rs756696562
|
0.00001
|
NM_004006.3(DMD):c.711A>C (p.Gln237His)
|
rs778632674
|
0.00001
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:31720723-31828077)
|
|
|
GRCh37/hg19 Xp21.1(chrX:32008563-32707560)
|
|
|
GRCh37/hg19 Xp21.1(chrX:32404499-32681483)
|
|
|
GRCh37/hg19 Xp21.1(chrX:32551504-32656069)
|
|
|
GRCh37/hg19 Xp21.1(chrX:32627257-33596357)
|
|
|
NC_000023.10:g.(31144791_31152218)_(31152312_31164407)dup
|
|
|
NC_000023.10:g.(31165636_31187559)_(31187719_31190464)dup
|
|
|
NC_000023.10:g.(31165636_31187559)_(31196088_31196785)dup
|
|
|
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)del
|
|
|
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)dup
|
|
|
NC_000023.10:g.(31201022_31222077)_(31222236_31224698)dup
|
|
|
NC_000023.10:g.(31241239_31279071)_(31792310_31838091)dup
|
|
|
NC_000023.10:g.(31279134_31341714)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31525571_31645789)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31676262_31697491)_(32305819_32328198)dup
|
|
|
NC_000023.10:g.(31747866_31792076)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31792310_31838091)_(32490427_32503035)dup
|
|
|
NC_000023.10:g.(32305819_32328198)_(32328394_32360216)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32360400_32361250)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)dup
|
|
|
NC_000023.10:g.(32366646_32380904)_(32430031_32456357)dup
|
|
|
NC_000023.10:g.(32381076_32382698)_(32382828_32383136)dup
|
|
|
NC_000023.10:g.(32382828_32383136)_(32383317_32398626)dup
|
|
|
NC_000023.10:g.(32383317_32398626)_(32398798_32404426)dup
|
|
|
NC_000023.10:g.(32407792_32408187)_(32408299_32429868)dup
|
|
|
NC_000023.10:g.(32408299_32429868)_(32563452_32583818)dup
|
|
|
NC_000023.10:g.(32456508_32459296)_(32459432_32466572)dup
|
|
|
NC_000023.10:g.(32459432_32466572)_(32663270_32715986)dup
|
|
|
NC_000023.10:g.(32466756_32472778)_(32472950_32481555)dup
|
|
|
NC_000023.10:g.(32563452_32583818)_(32613994_32632419)dup
|
|
|
NC_000023.10:g.(32613994_32632419)_(32663270_32715986)dup
|
|
|
NC_000023.10:g.(32867938_33038255)_(33229674_?)dup
|
|
|
NC_000023.10:g.(33038318_33229398)_(33229674_?)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31152312_31164407)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31191722_31196048)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31241239_31279071)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31279134_31341714)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31341776_31366672)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31497221_31514904)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31645980_31676106)dup
|
|
|
NC_000023.11:g.(?_31119227)_(31348635_31444480)dup
|
|
|
NM_004006.2:c.(1992+1_1993-1)_(4233+1_4234-1)[3]
|
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.-10A>T
|
rs1557300175
|
|
NM_004006.3(DMD):c.-164_-132del
|
|
|
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
|
|
|
NM_004006.3(DMD):c.10262+1G>T
|
rs145603325
|
|
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu)
|
rs199974153
|
|
NM_004006.3(DMD):c.10728_10731inv (p.Met3576_Gln3577delinsIleCys)
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.1248A>T (p.Glu416Asp)
|
rs876657777
|
|
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1331+2dup
|
rs1556875106
|
|
NM_004006.3(DMD):c.1331+3_1331+6del
|
rs2146818031
|
|
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)
|
rs766450050
|
|
NM_004006.3(DMD):c.187-10_187-6del
|
rs1557079581
|
|
NM_004006.3(DMD):c.1961T>C (p.Leu654Ser)
|
rs1057518312
|
|
NM_004006.3(DMD):c.2381A>G (p.Glu794Gly)
|
|
|
NM_004006.3(DMD):c.2633A>G (p.Asn878Ser)
|
rs2148584563
|
|
NM_004006.3(DMD):c.266T>C (p.Val89Ala)
|
rs1557058441
|
|
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg)
|
rs2040732218
|
|
NM_004006.3(DMD):c.2950-9G>T
|
rs772822759
|
|
NM_004006.3(DMD):c.31+7A>G
|
rs2148863971
|
|
NM_004006.3(DMD):c.31+8C>T
|
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.3929A>C (p.Glu1310Ala)
|
rs2148194722
|
|
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr)
|
rs753639717
|
|
NM_004006.3(DMD):c.419T>G (p.Leu140Arg)
|
rs1557052675
|
|
NM_004006.3(DMD):c.4296G>C (p.Gln1432His)
|
rs747262903
|
|
NM_004006.3(DMD):c.464A>G (p.Asn155Ser)
|
rs2148806581
|
|
NM_004006.3(DMD):c.5068_5070del (p.His1690del)
|
rs761764494
|
|
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala)
|
rs2097842153
|
|
NM_004006.3(DMD):c.531-10T>A
|
rs747522183
|
|
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg)
|
rs794727662
|
|
NM_004006.3(DMD):c.5884A>C (p.Lys1962Gln)
|
rs2097746777
|
|
NM_004006.3(DMD):c.5922+3G>C
|
rs398124000
|
|
NM_004006.3(DMD):c.6290+5G>A
|
rs886043467
|
|
NM_004006.3(DMD):c.640G>A (p.Asp214Asn)
|
rs876657781
|
|
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup)
|
rs1395996899
|
|
NM_004006.3(DMD):c.6652A>G (p.Arg2218Gly)
|
rs2094863769
|
|
NM_004006.3(DMD):c.7201-4A>G
|
rs1556917126
|
|
NM_004006.3(DMD):c.7661-6T>G
|
rs2148734428
|
|
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)
|
rs878854383
|
|
NM_004006.3(DMD):c.8027+19C>A
|
rs1202693482
|
|
NM_004006.3(DMD):c.8333G>A (p.Arg2778His)
|
rs2071050854
|
|
NM_004006.3(DMD):c.8391-305A>T
|
|
|
NM_004006.3(DMD):c.8582T>A (p.Val2861Glu)
|
|
|
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
|
|
|
NM_004006.3(DMD):c.875C>G (p.Pro292Arg)
|
rs915965687
|
|
NM_004006.3(DMD):c.9137G>A (p.Gly3046Asp)
|
rs2148491931
|
|
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)
|
rs200928985
|
|
NM_004006.3(DMD):c.9362-3C>T
|
rs752816247
|
|
NM_004006.3(DMD):c.9433A>G (p.Met3145Val)
|
rs775080631
|
|