NM_004006.3(DMD):c.9649+15T>C
|
rs2293668
|
0.84201
|
NM_004006.3(DMD):c.5234G>A (p.Arg1745His)
|
rs1801187
|
0.36912
|
NM_004006.3(DMD):c.*1447A>G
|
rs3361
|
0.34706
|
NM_004006.3(DMD):c.8027+11C>T
|
rs2270672
|
0.33026
|
NM_004006.3(DMD):c.2168+13T>C
|
rs228373
|
0.32216
|
NM_004006.3(DMD):c.7728T>C (p.Asn2576=)
|
rs1801188
|
0.15883
|
NM_004006.3(DMD):c.837G>A (p.Thr279=)
|
rs1800265
|
0.12849
|
NM_004006.3(DMD):c.1635A>G (p.Arg545=)
|
rs5927083
|
0.12751
|
NM_004006.3(DMD):c.4234-13A>G
|
rs41303181
|
0.05327
|
NM_004006.3(DMD):c.*1799G>T
|
rs16989350
|
0.03110
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val)
|
rs28715870
|
0.02748
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_004006.3(DMD):c.-8T>A
|
rs113726961
|
0.02450
|
NM_004006.3(DMD):c.*1783A>G
|
rs7886658
|
0.02227
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_004006.3(DMD):c.*1285C>A
|
rs142110702
|
0.02124
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
NM_004006.3(DMD):c.5724T>C (p.Asp1908=)
|
rs143159113
|
0.01630
|
NM_004006.3(DMD):c.3705C>T (p.Ala1235=)
|
rs143628111
|
0.01510
|
NM_004006.3(DMD):c.*1638A>G
|
rs142520583
|
0.01412
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)
|
rs16990169
|
0.00981
|
NM_004006.3(DMD):c.*38G>A
|
rs16989352
|
0.00785
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_004006.3(DMD):c.*1731A>C
|
rs3198427
|
0.00632
|
NM_004006.3(DMD):c.7476T>C (p.Val2492=)
|
rs142153424
|
0.00626
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_004006.3(DMD):c.*2039C>A
|
rs72466523
|
0.00578
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_004006.3(DMD):c.*1031G>A
|
rs112666076
|
0.00365
|
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)
|
rs3827462
|
0.00356
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)
|
rs72468638
|
0.00279
|
NM_004006.3(DMD):c.*477T>C
|
rs764294071
|
0.00278
|
NM_004006.3(DMD):c.*571A>G
|
rs192963364
|
0.00275
|
NM_004006.3(DMD):c.*1588_*1591dup
|
rs771242421
|
0.00233
|
NM_004006.3(DMD):c.*855G>A
|
rs150236690
|
0.00211
|
NM_004006.3(DMD):c.8571T>C (p.Thr2857=)
|
rs72466570
|
0.00153
|
NM_004006.3(DMD):c.*1705A>G
|
rs145632098
|
0.00140
|
NM_004006.3(DMD):c.*489C>T
|
rs45549534
|
0.00133
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_004006.3(DMD):c.*1023G>A
|
rs111354150
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_004006.3(DMD):c.*2268C>T
|
rs746158689
|
0.00075
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_004006.3(DMD):c.2199C>T (p.Ser733=)
|
rs149882431
|
0.00064
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
NM_004006.3(DMD):c.2381-3T>C
|
rs147931243
|
0.00048
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_004006.3(DMD):c.*2103T>A
|
rs916737131
|
0.00041
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004006.3(DMD):c.*1035A>G
|
rs112754560
|
0.00035
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_004006.3(DMD):c.9564-5A>G
|
rs201390145
|
0.00035
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
NM_004006.3(DMD):c.*1349T>G
|
rs764825924
|
0.00028
|
NM_004006.3(DMD):c.*1455C>A
|
rs191747923
|
0.00023
|
NM_004006.3(DMD):c.1337A>G (p.His446Arg)
|
rs72468699
|
0.00023
|
NM_004006.3(DMD):c.7310-7A>G
|
rs373230021
|
0.00023
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn)
|
rs72468630
|
0.00021
|
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn)
|
rs182708940
|
0.00020
|
NM_004006.3(DMD):c.1809G>A (p.Leu603=)
|
rs192176661
|
0.00020
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004006.3(DMD):c.*848C>T
|
rs934447597
|
0.00019
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)
|
rs202008454
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)
|
rs201691420
|
0.00016
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00013
|
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)
|
rs774722438
|
0.00012
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)
|
rs200213555
|
0.00010
|
NM_004006.3(DMD):c.-75G>A
|
rs778938887
|
0.00009
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00009
|
NM_004006.3(DMD):c.*237T>C
|
rs955717911
|
0.00008
|
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)
|
rs755206033
|
0.00007
|
NM_004006.3(DMD):c.*1917G>A
|
rs997378803
|
0.00006
|
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)
|
rs148511512
|
0.00006
|
NM_004006.3(DMD):c.*1005T>G
|
rs905224596
|
0.00005
|
NM_004006.3(DMD):c.-155C>T
|
rs960566728
|
0.00005
|
NM_004006.3(DMD):c.1688G>A (p.Arg563His)
|
rs191197223
|
0.00005
|
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)
|
rs771803281
|
0.00005
|
NM_004006.3(DMD):c.2612A>C (p.Lys871Thr)
|
rs398123899
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.4845+4A>T
|
rs368357171
|
0.00005
|
NM_004006.3(DMD):c.5204G>A (p.Arg1735His)
|
rs757412063
|
0.00005
|
NM_004006.3(DMD):c.1083A>G (p.Thr361=)
|
rs767325921
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.1602+13T>A
|
rs772364333
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)
|
rs201532491
|
0.00004
|
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)
|
rs142128738
|
0.00004
|
NM_004006.3(DMD):c.1704+9T>C
|
rs765811715
|
0.00003
|
NM_004006.3(DMD):c.3921+12A>G
|
rs760373690
|
0.00003
|
NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe)
|
rs187617705
|
0.00003
|
NM_004006.3(DMD):c.626T>C (p.Ile209Thr)
|
rs372832497
|
0.00003
|
NM_004006.3(DMD):c.6284G>T (p.Arg2095Leu)
|
rs370638522
|
0.00003
|
NM_004006.3(DMD):c.8563T>C (p.Leu2855=)
|
rs750917672
|
0.00003
|
NM_004006.3(DMD):c.*1339G>C
|
rs1057515858
|
0.00002
|
NM_004006.3(DMD):c.*704C>T
|
rs1057515863
|
0.00002
|
NM_004006.3(DMD):c.1432C>T (p.Pro478Ser)
|
rs375337020
|
0.00002
|
NM_004006.3(DMD):c.1896G>A (p.Lys632=)
|
rs766723466
|
0.00002
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser)
|
rs373428963
|
0.00002
|
NM_004006.3(DMD):c.5263C>T (p.Pro1755Ser)
|
rs1057515872
|
0.00002
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00002
|
NM_004006.3(DMD):c.5923-4C>G
|
rs780118536
|
0.00002
|
NM_004006.3(DMD):c.6912+7C>T
|
rs779161941
|
0.00002
|
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)
|
rs780283825
|
0.00002
|
NM_004006.3(DMD):c.956C>T (p.Ser319Leu)
|
rs765986138
|
0.00002
|
NM_004006.3(DMD):c.*2314T>C
|
rs1057515853
|
0.00001
|
NM_004006.3(DMD):c.*2328G>A
|
rs901774706
|
0.00001
|
NM_004006.3(DMD):c.*2563G>A
|
rs188558013
|
0.00001
|
NM_004006.3(DMD):c.10146C>G (p.Thr3382=)
|
rs766427132
|
0.00001
|
NM_004006.3(DMD):c.10711C>T (p.Arg3571Cys)
|
rs1221893618
|
0.00001
|
NM_004006.3(DMD):c.1616G>A (p.Arg539Gln)
|
rs1057515876
|
0.00001
|
NM_004006.3(DMD):c.1841A>C (p.Lys614Thr)
|
rs771660778
|
0.00001
|
NM_004006.3(DMD):c.2146G>C (p.Val716Leu)
|
rs886043081
|
0.00001
|
NM_004006.3(DMD):c.245G>A (p.Arg82Gln)
|
rs1228664222
|
0.00001
|
NM_004006.3(DMD):c.3030G>A (p.Ala1010=)
|
rs72468666
|
0.00001
|
NM_004006.3(DMD):c.3093G>T (p.Lys1031Asn)
|
rs1220406312
|
0.00001
|
NM_004006.3(DMD):c.3169A>G (p.Ile1057Val)
|
rs1057515874
|
0.00001
|
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr)
|
rs398123940
|
0.00001
|
NM_004006.3(DMD):c.5567C>T (p.Thr1856Ile)
|
rs148246460
|
0.00001
|
NM_004006.3(DMD):c.5728A>C (p.Arg1910=)
|
rs761647447
|
0.00001
|
NM_004006.3(DMD):c.5741A>G (p.Glu1914Gly)
|
rs985546923
|
0.00001
|
NM_004006.3(DMD):c.5883C>A (p.Ser1961Arg)
|
rs1217612438
|
0.00001
|
NM_004006.3(DMD):c.5964C>T (p.Asp1988=)
|
rs1057515869
|
0.00001
|
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)
|
rs767681834
|
0.00001
|
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)
|
rs139937177
|
0.00001
|
NM_004006.3(DMD):c.7200+9G>A
|
rs748786108
|
0.00001
|
NM_004006.3(DMD):c.8181C>T (p.Asp2727=)
|
rs767417979
|
0.00001
|
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)
|
rs965718917
|
0.00001
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
NM_004006.3(DMD):c.9324T>G (p.Thr3108=)
|
rs766256437
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:31593373-31906309)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32578319-32620638)x3
|
|
|
NM_004006.3(DMD):c.*1033TGAT[4]
|
rs71860126
|
|
NM_004006.3(DMD):c.*1033TGAT[6]
|
rs71860126
|
|
NM_004006.3(DMD):c.*1049T>C
|
rs1057515860
|
|
NM_004006.3(DMD):c.*1161_*1164dup
|
rs1057515859
|
|
NM_004006.3(DMD):c.*1421TAAA[3]
|
rs1057515857
|
|
NM_004006.3(DMD):c.*1448_*1449insAAGA
|
rs1057515856
|
|
NM_004006.3(DMD):c.*1554TAAG[4]
|
rs758612124
|
|
NM_004006.3(DMD):c.*1754TTCA[1]
|
rs751300992
|
|
NM_004006.3(DMD):c.*192G>A
|
rs1057515866
|
|
NM_004006.3(DMD):c.*2031_*2034dup
|
rs1057515855
|
|
NM_004006.3(DMD):c.*2037_*2038dup
|
rs200703281
|
|
NM_004006.3(DMD):c.*218G>A
|
rs2032592904
|
|
NM_004006.3(DMD):c.*2226AAGT[4]
|
rs202154420
|
|
NM_004006.3(DMD):c.*2234_*2238dup
|
rs1057515854
|
|
NM_004006.3(DMD):c.*2585T>G
|
rs2031932105
|
|
NM_004006.3(DMD):c.*461CA[10]
|
rs386416845
|
|
NM_004006.3(DMD):c.*461CA[9]
|
rs386416845
|
|
NM_004006.3(DMD):c.*479CA[6]
|
rs763028610
|
|
NM_004006.3(DMD):c.*479CA[9]
|
rs763028610
|
|
NM_004006.3(DMD):c.*505A>G
|
rs2032491980
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NM_004006.3(DMD):c.*803GTCA[3]
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rs1057515862
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NM_004006.3(DMD):c.*809C>T
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rs138956803
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NM_004006.3(DMD):c.*942AAGTA[4]
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rs745368386
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NM_004006.3(DMD):c.-114dup
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rs72470542
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NM_004006.3(DMD):c.-123T>C
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rs760595740
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NM_004006.3(DMD):c.-22G>A
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rs780710916
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NM_004006.3(DMD):c.1249G>C (p.Glu417Gln)
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rs1057515877
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NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
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rs145739725
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NM_004006.3(DMD):c.1869C>T (p.Leu623=)
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rs1800267
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NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)
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rs750526692
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NM_004006.3(DMD):c.2894C>A (p.Pro965His)
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rs2040720617
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NM_004006.3(DMD):c.2939G>A (p.Gly980Glu)
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rs1057515875
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NM_004006.3(DMD):c.3450G>T (p.Glu1150Asp)
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rs142967431
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NM_004006.3(DMD):c.3527C>A (p.Ala1176Asp)
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rs2098348910
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NM_004006.3(DMD):c.3949G>T (p.Glu1317Ter)
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NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys)
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rs1557340452
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NM_004006.3(DMD):c.4244C>G (p.Ser1415Cys)
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rs1569560771
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NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)
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rs398123965
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NM_004006.3(DMD):c.4942T>G (p.Leu1648Val)
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rs138472027
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NM_004006.3(DMD):c.5047A>C (p.Thr1683Pro)
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rs1057515873
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NM_004006.3(DMD):c.5361C>T (p.Asn1787=)
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rs1057515871
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NM_004006.3(DMD):c.5481G>T (p.Leu1827Phe)
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rs794727612
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NM_004006.3(DMD):c.5521G>T (p.Glu1841Ter)
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rs2097762588
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NM_004006.3(DMD):c.6291-10T>C
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rs758023750
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NM_004006.3(DMD):c.7032A>G (p.Leu2344=)
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rs1556962392
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NM_004006.3(DMD):c.7084C>T (p.Pro2362Ser)
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rs2093949947
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NM_004006.3(DMD):c.7236G>A (p.Ala2412=)
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rs149003002
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NM_004006.3(DMD):c.7237G>A (p.Val2413Ile)
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rs373604575
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NM_004006.3(DMD):c.7366A>G (p.Ile2456Val)
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rs1467855560
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NM_004006.3(DMD):c.7653G>A (p.Thr2551=)
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rs368803197
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NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter)
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rs398124072
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NM_004006.3(DMD):c.8888T>C (p.Val2963Ala)
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rs1057515867
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NM_004006.3(DMD):c.9225-647A>G
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rs398124091
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NM_004006.3(DMD):c.94-9dup
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rs3834997
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Single allele
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