NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
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.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004006.3(DMD):c.1812C>T (p.Ala604=)
|
rs140919039
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)
|
rs146817002
|
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.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)
|
rs367702968
|
0.00024
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
NM_004006.3(DMD):c.2166A>G (p.Lys722=)
|
rs147580966
|
0.00019
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00019
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)
|
rs142133195
|
0.00017
|
NM_004006.3(DMD):c.1761A>G (p.Thr587=)
|
rs370103963
|
0.00016
|
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)
|
rs201691420
|
0.00016
|
NM_004006.3(DMD):c.1707C>T (p.Cys569=)
|
rs142029039
|
0.00015
|
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser)
|
rs187926894
|
0.00015
|
NM_004006.3(DMD):c.9649+8G>A
|
rs373703618
|
0.00015
|
NM_004006.3(DMD):c.1603-4C>A
|
rs377223643
|
0.00014
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)
|
rs145266970
|
0.00014
|
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)
|
rs142236825
|
0.00014
|
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)
|
rs764127932
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala)
|
rs376720228
|
0.00013
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
NM_004006.3(DMD):c.9563+4C>T
|
rs753666498
|
0.00013
|
NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile)
|
rs139492098
|
0.00012
|
NM_004006.3(DMD):c.2352T>C (p.Ala784=)
|
rs142006072
|
0.00012
|
NM_004006.3(DMD):c.5325+1751A>C
|
rs1447328485
|
0.00012
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)
|
rs774722438
|
0.00012
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004006.3(DMD):c.8742G>A (p.Glu2914=)
|
rs372795781
|
0.00011
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)
|
rs201919981
|
0.00010
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
NM_004006.3(DMD):c.4072-106G>A
|
rs372444729
|
0.00009
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00009
|
NM_004006.3(DMD):c.5400A>C (p.Glu1800Asp)
|
rs757290084
|
0.00009
|
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)
|
rs1023328955
|
0.00009
|
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)
|
rs373898385
|
0.00008
|
NM_004006.3(DMD):c.2804-11T>C
|
rs766492772
|
0.00008
|
NM_004006.3(DMD):c.4091T>C (p.Leu1364Ser)
|
rs763829484
|
0.00008
|
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)
|
rs369055628
|
0.00008
|
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)
|
rs141261536
|
0.00008
|
NM_004006.3(DMD):c.5700A>G (p.Leu1900=)
|
rs374387166
|
0.00008
|
NM_004006.3(DMD):c.733A>G (p.Ile245Val)
|
rs140510985
|
0.00008
|
NM_004006.3(DMD):c.7725G>A (p.Leu2575=)
|
rs754604466
|
0.00008
|
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)
|
rs146020545
|
0.00008
|
NM_004006.3(DMD):c.8766C>T (p.Ser2922=)
|
rs149776669
|
0.00008
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)
|
rs368996545
|
0.00007
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00007
|
NM_004006.3(DMD):c.2060C>T (p.Thr687Met)
|
rs751543064
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.3604-14T>C
|
rs370687867
|
0.00007
|
NM_004006.3(DMD):c.5177A>G (p.Asp1726Gly)
|
rs372917491
|
0.00007
|
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)
|
rs137898199
|
0.00007
|
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004006.3(DMD):c.8712A>G (p.Leu2904=)
|
rs764631900
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
NM_004006.3(DMD):c.938C>T (p.Thr313Ile)
|
rs201799335
|
0.00007
|
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)
|
rs181517869
|
0.00007
|
NM_004006.3(DMD):c.10593C>T (p.His3531=)
|
rs753460206
|
0.00006
|
NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)
|
rs199981454
|
0.00006
|
NM_004006.3(DMD):c.1173C>T (p.Ala391=)
|
rs1057522737
|
0.00006
|
NM_004006.3(DMD):c.2209C>T (p.Arg737Cys)
|
rs762960280
|
0.00006
|
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)
|
rs139772014
|
0.00006
|
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)
|
rs146384458
|
0.00006
|
NM_004006.3(DMD):c.3405C>T (p.Asn1135=)
|
rs373182842
|
0.00006
|
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)
|
rs144667422
|
0.00006
|
NM_004006.3(DMD):c.4533T>C (p.Ser1511=)
|
rs1446495967
|
0.00006
|
NM_004006.3(DMD):c.5418T>C (p.Asn1806=)
|
rs149543306
|
0.00006
|
NM_004006.3(DMD):c.6117+15C>T
|
rs754718247
|
0.00006
|
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg)
|
rs762708936
|
0.00006
|
NM_004006.3(DMD):c.7024C>T (p.Leu2342=)
|
rs749996618
|
0.00006
|
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)
|
rs367747168
|
0.00006
|
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)
|
rs1057519106
|
0.00006
|
NM_004006.3(DMD):c.832-16A>G
|
rs781402243
|
0.00006
|
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)
|
rs398124071
|
0.00006
|
NM_004006.3(DMD):c.10087-17C>T
|
rs745874317
|
0.00005
|
NM_004006.3(DMD):c.10224T>A (p.Thr3408=)
|
rs774389538
|
0.00005
|
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile)
|
rs751030250
|
0.00005
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)
|
rs766716563
|
0.00005
|
NM_004006.3(DMD):c.1383T>C (p.Asn461=)
|
rs373729675
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.146G>A (p.Arg49His)
|
rs765584669
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
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.3191T>C (p.Met1064Thr)
|
rs140106769
|
0.00005
|
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)
|
rs747239076
|
0.00005
|
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)
|
rs191164314
|
0.00005
|
NM_004006.3(DMD):c.3419A>T (p.His1140Leu)
|
rs201297190
|
0.00005
|
NM_004006.3(DMD):c.3432+8C>A
|
rs781003275
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
NM_004006.3(DMD):c.4456C>T (p.Pro1486Ser)
|
rs762125605
|
0.00005
|
NM_004006.3(DMD):c.4845+4A>T
|
rs368357171
|
0.00005
|
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr)
|
rs201516290
|
0.00005
|
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)
|
rs398123982
|
0.00005
|
NM_004006.3(DMD):c.603C>T (p.Asn201=)
|
rs750180929
|
0.00005
|
NM_004006.3(DMD):c.6291-20C>G
|
rs776983141
|
0.00005
|
NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile)
|
rs758654750
|
0.00005
|
NM_004006.3(DMD):c.6854C>T (p.Pro2285Leu)
|
rs1438782223
|
0.00005
|
NM_004006.3(DMD):c.6912+8A>G
|
rs1296209292
|
0.00005
|
NM_004006.3(DMD):c.7131G>A (p.Pro2377=)
|
rs917627111
|
0.00005
|
NM_004006.3(DMD):c.7450G>A (p.Asp2484Asn)
|
rs773102625
|
0.00005
|
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)
|
rs371588290
|
0.00005
|
NM_004006.3(DMD):c.7781A>G (p.Gln2594Arg)
|
rs777178221
|
0.00005
|
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)
|
rs754997935
|
0.00005
|
NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly)
|
rs751599201
|
0.00005
|
NM_004006.3(DMD):c.8159G>A (p.Arg2720His)
|
rs760495223
|
0.00005
|
NM_004006.3(DMD):c.831+12A>G
|
rs1277972297
|
0.00005
|
NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg)
|
rs750419527
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004006.3(DMD):c.8426G>A (p.Arg2809His)
|
rs778331600
|
0.00005
|
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)
|
rs373481995
|
0.00005
|
NM_004006.3(DMD):c.8718G>A (p.Lys2906=)
|
rs377178242
|
0.00005
|
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)
|
rs760516307
|
0.00005
|
NM_004006.3(DMD):c.940C>T (p.Arg314Trp)
|
rs764526102
|
0.00005
|
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)
|
rs185247491
|
0.00005
|
NM_004006.3(DMD):c.10086+11C>T
|
rs372337129
|
0.00004
|
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.1309G>C (p.Ala437Pro)
|
rs748964279
|
0.00004
|
NM_004006.3(DMD):c.1503A>G (p.Glu501=)
|
rs770464589
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.1603-6C>T
|
rs774626474
|
0.00004
|
NM_004006.3(DMD):c.1897A>G (p.Asn633Asp)
|
rs757047592
|
0.00004
|
NM_004006.3(DMD):c.2061G>T (p.Thr687=)
|
rs1057523030
|
0.00004
|
NM_004006.3(DMD):c.2076A>G (p.Glu692=)
|
rs764950114
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp)
|
rs373475448
|
0.00004
|
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)
|
rs747802164
|
0.00004
|
NM_004006.3(DMD):c.2630T>G (p.Val877Gly)
|
rs769516870
|
0.00004
|
NM_004006.3(DMD):c.2804T>G (p.Ile935Ser)
|
rs190247714
|
0.00004
|
NM_004006.3(DMD):c.2985C>T (p.Gly995=)
|
rs771884775
|
0.00004
|
NM_004006.3(DMD):c.3162+5T>C
|
rs779431450
|
0.00004
|
NM_004006.3(DMD):c.3173A>G (p.Gln1058Arg)
|
rs762258174
|
0.00004
|
NM_004006.3(DMD):c.3727C>T (p.Leu1243=)
|
rs374715206
|
0.00004
|
NM_004006.3(DMD):c.3921+15A>G
|
rs564942248
|
0.00004
|
NM_004006.3(DMD):c.4847C>G (p.Ala1616Gly)
|
rs370167370
|
0.00004
|
NM_004006.3(DMD):c.4998A>T (p.Arg1666=)
|
rs1481796319
|
0.00004
|
NM_004006.3(DMD):c.5104T>C (p.Leu1702=)
|
rs750664323
|
0.00004
|
NM_004006.3(DMD):c.5109T>C (p.Asp1703=)
|
rs141086798
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.5900G>A (p.Arg1967Gln)
|
rs750268924
|
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.618A>G (p.Gln206=)
|
rs727503865
|
0.00004
|
NM_004006.3(DMD):c.6545A>G (p.Gln2182Arg)
|
rs749804804
|
0.00004
|
NM_004006.3(DMD):c.6639G>A (p.Leu2213=)
|
rs1414566832
|
0.00004
|
NM_004006.3(DMD):c.6665A>C (p.Glu2222Ala)
|
rs1180468756
|
0.00004
|
NM_004006.3(DMD):c.6900C>T (p.Leu2300=)
|
rs200493074
|
0.00004
|
NM_004006.3(DMD):c.7404G>A (p.Glu2468=)
|
rs1454627836
|
0.00004
|
NM_004006.3(DMD):c.9094G>A (p.Glu3032Lys)
|
rs72466562
|
0.00004
|
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)
|
rs753594128
|
0.00004
|
NM_004006.3(DMD):c.9987A>G (p.Leu3329=)
|
rs145595228
|
0.00004
|
NM_004006.3(DMD):c.1014A>G (p.Glu338=)
|
rs758035070
|
0.00003
|
NM_004006.3(DMD):c.10203A>G (p.Leu3401=)
|
rs371928525
|
0.00003
|
NM_004006.3(DMD):c.10661G>A (p.Arg3554Gln)
|
rs199974153
|
0.00003
|
NM_004006.3(DMD):c.10797+20T>A
|
rs192226304
|
0.00003
|
NM_004006.3(DMD):c.10815A>C (p.Lys3605Asn)
|
rs764516612
|
0.00003
|
NM_004006.3(DMD):c.1472A>G (p.Gln491Arg)
|
rs753993504
|
0.00003
|
NM_004006.3(DMD):c.1482+7G>T
|
rs766338928
|
0.00003
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
NM_004006.3(DMD):c.1704+20C>T
|
rs762285101
|
0.00003
|
NM_004006.3(DMD):c.1704+9T>C
|
rs765811715
|
0.00003
|
NM_004006.3(DMD):c.1919C>T (p.Thr640Met)
|
rs183677010
|
0.00003
|
NM_004006.3(DMD):c.2102A>C (p.Glu701Ala)
|
rs772229363
|
0.00003
|
NM_004006.3(DMD):c.2247C>A (p.Ile749=)
|
rs745778664
|
0.00003
|
NM_004006.3(DMD):c.2249T>C (p.Phe750Ser)
|
rs377539940
|
0.00003
|
NM_004006.3(DMD):c.2368C>G (p.Gln790Glu)
|
rs762860653
|
0.00003
|
NM_004006.3(DMD):c.2458A>C (p.Ser820Arg)
|
rs751873846
|
0.00003
|
NM_004006.3(DMD):c.2579C>T (p.Pro860Leu)
|
rs754502808
|
0.00003
|
NM_004006.3(DMD):c.2780C>T (p.Ala927Val)
|
rs41312094
|
0.00003
|
NM_004006.3(DMD):c.2912A>T (p.Asp971Val)
|
rs762154042
|
0.00003
|
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro)
|
rs766325631
|
0.00003
|
NM_004006.3(DMD):c.3051A>G (p.Lys1017=)
|
rs747263406
|
0.00003
|
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)
|
rs770148717
|
0.00003
|
NM_004006.3(DMD):c.3132G>A (p.Glu1044=)
|
rs758283681
|
0.00003
|
NM_004006.3(DMD):c.3175A>G (p.Thr1059Ala)
|
rs763548540
|
0.00003
|
NM_004006.3(DMD):c.3177C>T (p.Thr1059=)
|
rs755632126
|
0.00003
|
NM_004006.3(DMD):c.358-17T>C
|
rs771742066
|
0.00003
|
NM_004006.3(DMD):c.358-7C>T
|
rs192050146
|
0.00003
|
NM_004006.3(DMD):c.3719T>G (p.Leu1240Arg)
|
rs769030725
|
0.00003
|
NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys)
|
rs941573844
|
0.00003
|
NM_004006.3(DMD):c.4046C>G (p.Ser1349Cys)
|
rs763514033
|
0.00003
|
NM_004006.3(DMD):c.404A>G (p.Asn135Ser)
|
rs764808552
|
0.00003
|
NM_004006.3(DMD):c.4234-14T>G
|
rs372814046
|
0.00003
|
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr)
|
rs398123956
|
0.00003
|
NM_004006.3(DMD):c.5405A>G (p.Gln1802Arg)
|
rs893536407
|
0.00003
|
NM_004006.3(DMD):c.5529G>A (p.Lys1843=)
|
rs780778975
|
0.00003
|
NM_004006.3(DMD):c.5530C>A (p.Arg1844=)
|
rs1064325
|
0.00003
|
NM_004006.3(DMD):c.5587-8A>C
|
rs1287724254
|
0.00003
|
NM_004006.3(DMD):c.5615C>A (p.Ala1872Asp)
|
rs200246327
|
0.00003
|
NM_004006.3(DMD):c.5677T>C (p.Leu1893=)
|
rs186237022
|
0.00003
|
NM_004006.3(DMD):c.5682T>G (p.Asp1894Glu)
|
rs779574344
|
0.00003
|
NM_004006.3(DMD):c.5740-5A>G
|
rs202014758
|
0.00003
|
NM_004006.3(DMD):c.5784A>G (p.Ala1928=)
|
rs922803283
|
0.00003
|
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)
|
rs755477994
|
0.00003
|
NM_004006.3(DMD):c.588G>A (p.Leu196=)
|
rs762842636
|
0.00003
|
NM_004006.3(DMD):c.6201G>A (p.Thr2067=)
|
rs969925680
|
0.00003
|
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)
|
rs774825173
|
0.00003
|
NM_004006.3(DMD):c.626T>C (p.Ile209Thr)
|
rs372832497
|
0.00003
|
NM_004006.3(DMD):c.6426A>G (p.Lys2142=)
|
rs764358532
|
0.00003
|
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln)
|
rs756238158
|
0.00003
|
NM_004006.3(DMD):c.6726A>G (p.Lys2242=)
|
rs145993057
|
0.00003
|
NM_004006.3(DMD):c.708C>T (p.Phe236=)
|
rs1280238434
|
0.00003
|
NM_004006.3(DMD):c.7092C>T (p.Asp2364=)
|
rs768559703
|
0.00003
|
NM_004006.3(DMD):c.732C>T (p.Ser244=)
|
rs756282849
|
0.00003
|
NM_004006.3(DMD):c.7520A>G (p.Asn2507Ser)
|
rs772316082
|
0.00003
|
NM_004006.3(DMD):c.7528A>G (p.Ile2510Val)
|
rs757873067
|
0.00003
|
NM_004006.3(DMD):c.7722G>C (p.Gln2574His)
|
rs368164231
|
0.00003
|
NM_004006.3(DMD):c.7841A>G (p.Asp2614Gly)
|
rs748974113
|
0.00003
|
NM_004006.3(DMD):c.8022T>C (p.His2674=)
|
rs955297645
|
0.00003
|
NM_004006.3(DMD):c.8220C>T (p.Asp2740=)
|
rs768871885
|
0.00003
|
NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr)
|
rs367735348
|
0.00003
|
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)
|
rs772732788
|
0.00003
|
NM_004006.3(DMD):c.8529G>A (p.Lys2843=)
|
rs1004602990
|
0.00003
|
NM_004006.3(DMD):c.8563T>C (p.Leu2855=)
|
rs750917672
|
0.00003
|
NM_004006.3(DMD):c.8640A>G (p.Gly2880=)
|
rs915859706
|
0.00003
|
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)
|
rs747605156
|
0.00003
|
NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser)
|
rs756160145
|
0.00003
|
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met)
|
rs751810893
|
0.00003
|
NM_004006.3(DMD):c.8976G>A (p.Val2992=)
|
rs916865376
|
0.00003
|
NM_004006.3(DMD):c.8982C>T (p.His2994=)
|
rs1373425277
|
0.00003
|
NM_004006.3(DMD):c.9040C>T (p.Leu3014Phe)
|
rs780747093
|
0.00003
|
NM_004006.3(DMD):c.9108G>A (p.Arg3036=)
|
rs1276369095
|
0.00003
|
NM_004006.3(DMD):c.9210G>A (p.Val3070=)
|
rs147336953
|
0.00003
|
NM_004006.3(DMD):c.9303C>T (p.Val3101=)
|
rs368744016
|
0.00003
|
NM_004006.3(DMD):c.960+9A>G
|
rs886038537
|
0.00003
|
NM_004006.3(DMD):c.10014A>G (p.Gln3338=)
|
rs753610550
|
0.00002
|
NM_004006.3(DMD):c.10048C>T (p.His3350Tyr)
|
rs764520095
|
0.00002
|
NM_004006.3(DMD):c.10087-9C>G
|
rs777590351
|
0.00002
|
NM_004006.3(DMD):c.1008G>A (p.Glu336=)
|
rs1280118173
|
0.00002
|
NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly)
|
rs745766977
|
0.00002
|
NM_004006.3(DMD):c.10224-5T>C
|
rs768272792
|
0.00002
|
NM_004006.3(DMD):c.10248G>C (p.Trp3416Cys)
|
rs376745644
|
0.00002
|
NM_004006.3(DMD):c.10290C>T (p.His3430=)
|
rs1453988716
|
0.00002
|
NM_004006.3(DMD):c.10554-13T>C
|
rs755556497
|
0.00002
|
NM_004006.3(DMD):c.1057T>C (p.Ser353Pro)
|
rs753289586
|
0.00002
|
NM_004006.3(DMD):c.10620G>A (p.Pro3540=)
|
rs72466538
|
0.00002
|
NM_004006.3(DMD):c.10660C>T (p.Arg3554Trp)
|
rs1427119360
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.10725G>A (p.Arg3575=)
|
rs147346696
|
0.00002
|
NM_004006.3(DMD):c.10797+16G>A
|
rs746148781
|
0.00002
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
NM_004006.3(DMD):c.10911G>A (p.Ser3637=)
|
rs747939733
|
0.00002
|
NM_004006.3(DMD):c.10921+16A>G
|
rs1305608225
|
0.00002
|
NM_004006.3(DMD):c.10921+5G>A
|
rs398123848
|
0.00002
|
NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)
|
rs759642119
|
0.00002
|
NM_004006.3(DMD):c.10953C>T (p.Asp3651=)
|
rs1168987353
|
0.00002
|
NM_004006.3(DMD):c.10975G>A (p.Val3659Met)
|
rs768532317
|
0.00002
|
NM_004006.3(DMD):c.11015-5T>A
|
rs753104670
|
0.00002
|
NM_004006.3(DMD):c.1122G>C (p.Val374=)
|
rs769001938
|
0.00002
|
NM_004006.3(DMD):c.1149+11A>G
|
rs143429366
|
0.00002
|
NM_004006.3(DMD):c.1299C>T (p.Cys433=)
|
rs372135475
|
0.00002
|
NM_004006.3(DMD):c.1332-9A>C
|
rs72468700
|
0.00002
|
NM_004006.3(DMD):c.1356C>G (p.Leu452=)
|
rs979333801
|
0.00002
|
NM_004006.3(DMD):c.1363C>G (p.Gln455Glu)
|
rs770751579
|
0.00002
|
NM_004006.3(DMD):c.1382A>G (p.Asn461Ser)
|
rs775115784
|
0.00002
|
NM_004006.3(DMD):c.1410A>G (p.Arg470=)
|
rs770845328
|
0.00002
|
NM_004006.3(DMD):c.1411A>G (p.Thr471Ala)
|
rs369834329
|
0.00002
|
NM_004006.3(DMD):c.1463G>A (p.Arg488His)
|
rs794727065
|
0.00002
|
NM_004006.3(DMD):c.1482+20C>T
|
rs766314821
|
0.00002
|
NM_004006.3(DMD):c.1536C>A (p.His512Gln)
|
rs776446238
|
0.00002
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
NM_004006.3(DMD):c.159C>A (p.Leu53=)
|
rs762245872
|
0.00002
|
NM_004006.3(DMD):c.1603-11C>T
|
rs370463654
|
0.00002
|
NM_004006.3(DMD):c.1626C>T (p.Asn542=)
|
rs1050459446
|
0.00002
|
NM_004006.3(DMD):c.162C>T (p.Leu54=)
|
rs904011265
|
0.00002
|
NM_004006.3(DMD):c.1812+4T>C
|
rs777165271
|
0.00002
|
NM_004006.3(DMD):c.1813-16T>C
|
rs997756151
|
0.00002
|
NM_004006.3(DMD):c.1819A>C (p.Lys607Gln)
|
rs767698069
|
0.00002
|
NM_004006.3(DMD):c.1830A>G (p.Leu610=)
|
rs369223666
|
0.00002
|
NM_004006.3(DMD):c.1896G>A (p.Lys632=)
|
rs766723466
|
0.00002
|
NM_004006.3(DMD):c.1920G>A (p.Thr640=)
|
rs766895256
|
0.00002
|
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp)
|
rs770572107
|
0.00002
|
NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr)
|
rs1488881909
|
0.00002
|
NM_004006.3(DMD):c.2157A>T (p.Glu719Asp)
|
rs1366140968
|
0.00002
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
NM_004006.3(DMD):c.2380+16G>A
|
rs371594190
|
0.00002
|
NM_004006.3(DMD):c.2381-8C>A
|
rs753846097
|
0.00002
|
NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)
|
rs868641814
|
0.00002
|
NM_004006.3(DMD):c.2523A>G (p.Gln841=)
|
rs748655300
|
0.00002
|
NM_004006.3(DMD):c.2528A>T (p.Glu843Val)
|
rs202167701
|
0.00002
|
NM_004006.3(DMD):c.265-7T>A
|
rs768511179
|
0.00002
|
NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)
|
rs1055371114
|
0.00002
|
NM_004006.3(DMD):c.2804-9T>C
|
rs756053444
|
0.00002
|
NM_004006.3(DMD):c.2848G>A (p.Ala950Thr)
|
rs794728997
|
0.00002
|
NM_004006.3(DMD):c.2900T>G (p.Leu967Arg)
|
rs766400327
|
0.00002
|
NM_004006.3(DMD):c.2910C>T (p.Thr970=)
|
rs765442122
|
0.00002
|
NM_004006.3(DMD):c.2950-16A>G
|
rs1351914564
|
0.00002
|
NM_004006.3(DMD):c.2967G>T (p.Leu989=)
|
rs760097427
|
0.00002
|
NM_004006.3(DMD):c.297C>T (p.Ile99=)
|
rs1004456825
|
0.00002
|
NM_004006.3(DMD):c.298G>A (p.Val100Ile)
|
rs779099343
|
0.00002
|
NM_004006.3(DMD):c.326G>C (p.Gly109Ala)
|
rs1048652498
|
0.00002
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
NM_004006.3(DMD):c.3510C>T (p.His1170=)
|
rs138945423
|
0.00002
|
NM_004006.3(DMD):c.3663A>G (p.Val1221=)
|
rs750549006
|
0.00002
|
NM_004006.3(DMD):c.3674T>C (p.Ile1225Thr)
|
rs757482211
|
0.00002
|
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)
|
rs759820971
|
0.00002
|
NM_004006.3(DMD):c.4176G>A (p.Gln1392=)
|
rs372863584
|
0.00002
|
NM_004006.3(DMD):c.4201G>A (p.Val1401Met)
|
rs139318945
|
0.00002
|
NM_004006.3(DMD):c.4302G>C (p.Lys1434Asn)
|
rs749556197
|
0.00002
|
NM_004006.3(DMD):c.4314A>G (p.Gln1438=)
|
rs985982212
|
0.00002
|
NM_004006.3(DMD):c.4345-8C>T
|
rs886044675
|
0.00002
|
NM_004006.3(DMD):c.4377A>G (p.Arg1459=)
|
rs2097986992
|
0.00002
|
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)
|
rs371646182
|
0.00002
|
NM_004006.3(DMD):c.4497G>A (p.Gln1499=)
|
rs1417062461
|
0.00002
|
NM_004006.3(DMD):c.4519-12G>A
|
rs372282981
|
0.00002
|
NM_004006.3(DMD):c.4562T>C (p.Met1521Thr)
|
rs753920442
|
0.00002
|
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)
|
rs1431604157
|
0.00002
|
NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu)
|
rs1040362862
|
0.00002
|
NM_004006.3(DMD):c.4675-9T>A
|
rs201382098
|
0.00002
|
NM_004006.3(DMD):c.4698G>A (p.Leu1566=)
|
rs1060504680
|
0.00002
|
NM_004006.3(DMD):c.4730G>A (p.Arg1577Gln)
|
rs753830915
|
0.00002
|
NM_004006.3(DMD):c.4762G>T (p.Ala1588Ser)
|
rs749732729
|
0.00002
|
NM_004006.3(DMD):c.4798G>C (p.Val1600Leu)
|
rs753565464
|
0.00002
|
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)
|
rs143719666
|
0.00002
|
NM_004006.3(DMD):c.4868A>G (p.Lys1623Arg)
|
rs373480671
|
0.00002
|
NM_004006.3(DMD):c.4924T>C (p.Leu1642=)
|
rs376720373
|
0.00002
|
NM_004006.3(DMD):c.4981A>G (p.Ile1661Val)
|
rs373475585
|
0.00002
|
NM_004006.3(DMD):c.5025+17G>A
|
rs970955064
|
0.00002
|
NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu)
|
rs763028318
|
0.00002
|
NM_004006.3(DMD):c.5133G>A (p.Gln1711=)
|
rs771957811
|
0.00002
|
NM_004006.3(DMD):c.5155-8G>T
|
rs1367385862
|
0.00002
|
NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu)
|
rs200740165
|
0.00002
|
NM_004006.3(DMD):c.5305C>T (p.His1769Tyr)
|
rs771548119
|
0.00002
|
NM_004006.3(DMD):c.5386C>T (p.Pro1796Ser)
|
rs758124706
|
0.00002
|
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)
|
rs1800271
|
0.00002
|
NM_004006.3(DMD):c.5493A>G (p.Gly1831=)
|
rs1322285225
|
0.00002
|
NM_004006.3(DMD):c.5540T>C (p.Ile1847Thr)
|
rs371728045
|
0.00002
|
NM_004006.3(DMD):c.5577T>C (p.Asn1859=)
|
rs372707022
|
0.00002
|
NM_004006.3(DMD):c.5586+16T>C
|
rs1167154749
|
0.00002
|
NM_004006.3(DMD):c.5587-20A>T
|
rs909026795
|
0.00002
|
NM_004006.3(DMD):c.5672A>T (p.Lys1891Ile)
|
rs769324102
|
0.00002
|
NM_004006.3(DMD):c.5739+15G>T
|
rs398123996
|
0.00002
|
NM_004006.3(DMD):c.5789G>A (p.Arg1930His)
|
rs759051688
|
0.00002
|
NM_004006.3(DMD):c.5841A>G (p.Pro1947=)
|
rs1273548049
|
0.00002
|
NM_004006.3(DMD):c.5843C>G (p.Thr1948Ser)
|
rs748960678
|
0.00002
|
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)
|
rs377039314
|
0.00002
|
NM_004006.3(DMD):c.6058G>C (p.Ala2020Pro)
|
rs765460659
|
0.00002
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
NM_004006.3(DMD):c.6076A>G (p.Lys2026Glu)
|
rs772603087
|
0.00002
|
NM_004006.3(DMD):c.6225G>A (p.Gln2075=)
|
rs1226885639
|
0.00002
|
NM_004006.3(DMD):c.633A>G (p.Lys211=)
|
rs367557830
|
0.00002
|
NM_004006.3(DMD):c.6484T>C (p.Leu2162=)
|
rs768153284
|
0.00002
|
NM_004006.3(DMD):c.649+18C>T
|
rs1173004945
|
0.00002
|
NM_004006.3(DMD):c.6788G>A (p.Arg2263His)
|
rs780221745
|
0.00002
|
NM_004006.3(DMD):c.6912+19C>T
|
rs1378603323
|
0.00002
|
NM_004006.3(DMD):c.6912+7C>T
|
rs779161941
|
0.00002
|
NM_004006.3(DMD):c.693C>T (p.Tyr231=)
|
rs374222301
|
0.00002
|
NM_004006.3(DMD):c.7003G>A (p.Glu2335Lys)
|
rs746939168
|
0.00002
|
NM_004006.3(DMD):c.7127A>T (p.Gln2376Leu)
|
rs774228400
|
0.00002
|
NM_004006.3(DMD):c.728T>C (p.Val243Ala)
|
rs753509616
|
0.00002
|
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)
|
rs780283825
|
0.00002
|
NM_004006.3(DMD):c.7370C>T (p.Ser2457Phe)
|
rs182761135
|
0.00002
|
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)
|
rs759274835
|
0.00002
|
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)
|
rs771509836
|
0.00002
|
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)
|
rs748309027
|
0.00002
|
NM_004006.3(DMD):c.7660+13A>G
|
rs760058465
|
0.00002
|
NM_004006.3(DMD):c.768G>A (p.Arg256=)
|
rs1379469102
|
0.00002
|
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)
|
rs757011771
|
0.00002
|
NM_004006.3(DMD):c.7716G>A (p.Arg2572=)
|
rs200571671
|
0.00002
|
NM_004006.3(DMD):c.772C>A (p.Pro258Thr)
|
rs773066825
|
0.00002
|
NM_004006.3(DMD):c.7892G>A (p.Arg2631His)
|
rs748007790
|
0.00002
|
NM_004006.3(DMD):c.7923T>C (p.Asn2641=)
|
rs200170279
|
0.00002
|
NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)
|
rs1015097529
|
0.00002
|
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn)
|
rs771081514
|
0.00002
|
NM_004006.3(DMD):c.807T>A (p.His269Gln)
|
rs1038213947
|
0.00002
|
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)
|
rs750640802
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_004006.3(DMD):c.8240C>G (p.Ala2747Gly)
|
rs745873218
|
0.00002
|
NM_004006.3(DMD):c.8270A>G (p.Glu2757Gly)
|
rs201996040
|
0.00002
|
NM_004006.3(DMD):c.831+10G>A
|
rs756370588
|
0.00002
|
NM_004006.3(DMD):c.842G>C (p.Ser281Thr)
|
rs762274027
|
0.00002
|
NM_004006.3(DMD):c.8543A>G (p.His2848Arg)
|
rs146890210
|
0.00002
|
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)
|
rs368114420
|
0.00002
|
NM_004006.3(DMD):c.8893G>A (p.Asp2965Asn)
|
rs398124077
|
0.00002
|
NM_004006.3(DMD):c.8983G>A (p.Val2995Ile)
|
rs148643665
|
0.00002
|
NM_004006.3(DMD):c.8999G>A (p.Arg3000His)
|
rs772695216
|
0.00002
|
NM_004006.3(DMD):c.9141A>G (p.Pro3047=)
|
rs959687969
|
0.00002
|
NM_004006.3(DMD):c.9164-3C>T
|
rs1237165748
|
0.00002
|
NM_004006.3(DMD):c.9224+15T>A
|
rs377505638
|
0.00002
|
NM_004006.3(DMD):c.9228C>T (p.His3076=)
|
rs761925260
|
0.00002
|
NM_004006.3(DMD):c.9270G>A (p.Glu3090=)
|
rs768790476
|
0.00002
|
NM_004006.3(DMD):c.9395C>A (p.Ala3132Asp)
|
rs200592992
|
0.00002
|
NM_004006.3(DMD):c.9510C>T (p.Asn3170=)
|
rs751900100
|
0.00002
|
NM_004006.3(DMD):c.956C>T (p.Ser319Leu)
|
rs765986138
|
0.00002
|
NM_004006.3(DMD):c.960+8A>G
|
rs1326327750
|
0.00002
|
NM_004006.3(DMD):c.9678A>G (p.Thr3226=)
|
rs1052372620
|
0.00002
|
NM_004006.3(DMD):c.9834G>A (p.Ala3278=)
|
rs749726519
|
0.00002
|
NM_004006.3(DMD):c.9975-6T>C
|
rs1459745620
|
0.00002
|
NM_004006.3(DMD):c.1004T>C (p.Met335Thr)
|
rs540761988
|
0.00001
|
NM_004006.3(DMD):c.10077T>C (p.Tyr3359=)
|
rs1181271457
|
0.00001
|
NM_004006.3(DMD):c.10086+9G>C
|
rs1171551733
|
0.00001
|
NM_004006.3(DMD):c.10087-16A>G
|
rs934570843
|
0.00001
|
NM_004006.3(DMD):c.10087-8C>A
|
rs1261494456
|
0.00001
|
NM_004006.3(DMD):c.10146C>G (p.Thr3382=)
|
rs766427132
|
0.00001
|
NM_004006.3(DMD):c.10161G>A (p.Ala3387=)
|
rs773387358
|
0.00001
|
NM_004006.3(DMD):c.10172G>A (p.Arg3391Gln)
|
rs1423537877
|
0.00001
|
NM_004006.3(DMD):c.10200C>G (p.Val3400=)
|
rs1373944162
|
0.00001
|
NM_004006.3(DMD):c.1020C>T (p.Asn340=)
|
rs1375821599
|
0.00001
|
NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu)
|
rs367657320
|
0.00001
|
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)
|
rs770516401
|
0.00001
|
NM_004006.3(DMD):c.10223+20G>A
|
rs886042643
|
0.00001
|
NM_004006.3(DMD):c.10224-4G>A
|
rs1254329222
|
0.00001
|
NM_004006.3(DMD):c.10227C>T (p.Pro3409=)
|
rs1256875628
|
0.00001
|
NM_004006.3(DMD):c.10272G>A (p.Ser3424=)
|
rs1400465644
|
0.00001
|
NM_004006.3(DMD):c.10328+7G>C
|
rs746337275
|
0.00001
|
NM_004006.3(DMD):c.10428C>T (p.Cys3476=)
|
rs190867451
|
0.00001
|
NM_004006.3(DMD):c.10452C>A (p.Pro3484=)
|
rs1225615433
|
0.00001
|
NM_004006.3(DMD):c.10465C>T (p.Arg3489Cys)
|
rs771240938
|
0.00001
|
NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)
|
rs374713915
|
0.00001
|
NM_004006.3(DMD):c.10608G>A (p.Leu3536=)
|
rs773786369
|
0.00001
|
NM_004006.3(DMD):c.10619C>T (p.Pro3540Leu)
|
rs747236323
|
0.00001
|
NM_004006.3(DMD):c.10659C>T (p.Pro3553=)
|
rs780730103
|
0.00001
|
NM_004006.3(DMD):c.10696C>T (p.Arg3566Cys)
|
rs750800262
|
0.00001
|
NM_004006.3(DMD):c.10712G>A (p.Arg3571His)
|
rs935091512
|
0.00001
|
NM_004006.3(DMD):c.10734C>A (p.Ile3578=)
|
rs762374364
|
0.00001
|
NM_004006.3(DMD):c.10773C>T (p.His3591=)
|
rs768736629
|
0.00001
|
NM_004006.3(DMD):c.10797+10G>T
|
rs1372889768
|
0.00001
|
NM_004006.3(DMD):c.1080C>T (p.Asp360=)
|
rs1257660485
|
0.00001
|
NM_004006.3(DMD):c.10863C>T (p.Ser3621=)
|
rs398123847
|
0.00001
|
NM_004006.3(DMD):c.10910C>T (p.Ser3637Leu)
|
rs200166885
|
0.00001
|
NM_004006.3(DMD):c.10968A>G (p.Leu3656=)
|
rs1255987524
|
0.00001
|
NM_004006.3(DMD):c.10992C>T (p.Asn3664=)
|
rs1174073521
|
0.00001
|
NM_004006.3(DMD):c.11046+19C>A
|
rs398123850
|
0.00001
|
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)
|
rs773299186
|
0.00001
|
NM_004006.3(DMD):c.1150-13C>T
|
rs769904605
|
0.00001
|
NM_004006.3(DMD):c.1150-4T>A
|
rs794727031
|
0.00001
|
NM_004006.3(DMD):c.1155C>T (p.Tyr385=)
|
rs1430845292
|
0.00001
|
NM_004006.3(DMD):c.1160T>C (p.Met387Thr)
|
rs746169492
|
0.00001
|
NM_004006.3(DMD):c.1162G>T (p.Asp388Tyr)
|
rs1454929812
|
0.00001
|
NM_004006.3(DMD):c.1209A>T (p.Gly403=)
|
rs755647122
|
0.00001
|
NM_004006.3(DMD):c.1214A>C (p.Lys405Thr)
|
rs781297201
|
0.00001
|
NM_004006.3(DMD):c.1239A>C (p.Ser413=)
|
rs751436295
|
0.00001
|
NM_004006.3(DMD):c.1257A>G (p.Glu419=)
|
rs750653819
|
0.00001
|
NM_004006.3(DMD):c.1279C>T (p.Leu427=)
|
rs764619452
|
0.00001
|
NM_004006.3(DMD):c.1311T>C (p.Ala437=)
|
rs398123855
|
0.00001
|
NM_004006.3(DMD):c.1331+16T>C
|
rs780061758
|
0.00001
|
NM_004006.3(DMD):c.1331+7C>T
|
rs990901771
|
0.00001
|
NM_004006.3(DMD):c.1338T>C (p.His446=)
|
rs752002947
|
0.00001
|
NM_004006.3(DMD):c.1423G>A (p.Glu475Lys)
|
rs1244566884
|
0.00001
|
NM_004006.3(DMD):c.144G>A (p.Arg48=)
|
rs577671071
|
0.00001
|
NM_004006.3(DMD):c.1458A>G (p.Leu486=)
|
rs780447358
|
0.00001
|
NM_004006.3(DMD):c.1464C>T (p.Arg488=)
|
rs771891715
|
0.00001
|
NM_004006.3(DMD):c.1473A>G (p.Gln491=)
|
rs144303432
|
0.00001
|
NM_004006.3(DMD):c.1476A>G (p.Gln492=)
|
rs1171698171
|
0.00001
|
NM_004006.3(DMD):c.1482+15T>C
|
rs1310878998
|
0.00001
|
NM_004006.3(DMD):c.151C>T (p.Leu51=)
|
rs1319668585
|
0.00001
|
NM_004006.3(DMD):c.1551T>C (p.Val517=)
|
rs1394644455
|
0.00001
|
NM_004006.3(DMD):c.1564G>A (p.Gly522Arg)
|
rs778171516
|
0.00001
|
NM_004006.3(DMD):c.1572C>A (p.His524Gln)
|
rs779611516
|
0.00001
|
NM_004006.3(DMD):c.1572C>T (p.His524=)
|
rs779611516
|
0.00001
|
NM_004006.3(DMD):c.1602+8T>G
|
rs775861408
|
0.00001
|
NM_004006.3(DMD):c.1603-13G>T
|
rs1230662581
|
0.00001
|
NM_004006.3(DMD):c.1603-16A>G
|
rs767885995
|
0.00001
|
NM_004006.3(DMD):c.1612G>A (p.Asp538Asn)
|
rs1308035408
|
0.00001
|
NM_004006.3(DMD):c.1660T>C (p.Leu554=)
|
rs138371531
|
0.00001
|
NM_004006.3(DMD):c.1689T>C (p.Arg563=)
|
rs1601810481
|
0.00001
|
NM_004006.3(DMD):c.1694C>T (p.Thr565Ile)
|
rs763112789
|
0.00001
|
NM_004006.3(DMD):c.1704+7del
|
rs754771374
|
0.00001
|
NM_004006.3(DMD):c.1705-4G>T
|
rs889499438
|
0.00001
|
NM_004006.3(DMD):c.1705-7C>T
|
rs751260044
|
0.00001
|
NM_004006.3(DMD):c.1734A>T (p.Lys578Asn)
|
rs754347572
|
0.00001
|
NM_004006.3(DMD):c.1743A>G (p.Ala581=)
|
rs775679265
|
0.00001
|
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)
|
rs775846754
|
0.00001
|
NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)
|
rs376238937
|
0.00001
|
NM_004006.3(DMD):c.1776T>G (p.Asp592Glu)
|
rs768672229
|
0.00001
|
NM_004006.3(DMD):c.1812+14A>G
|
rs2052664134
|
0.00001
|
NM_004006.3(DMD):c.1812+20C>T
|
rs761057505
|
0.00001
|
NM_004006.3(DMD):c.1813-5A>C
|
rs1569214740
|
0.00001
|
NM_004006.3(DMD):c.1841A>C (p.Lys614Thr)
|
rs771660778
|
0.00001
|
NM_004006.3(DMD):c.186+13T>C
|
rs934506672
|
0.00001
|
NM_004006.3(DMD):c.186+9C>G
|
rs771877659
|
0.00001
|
NM_004006.3(DMD):c.1907T>C (p.Val636Ala)
|
rs764008354
|
0.00001
|
NM_004006.3(DMD):c.1946G>A (p.Arg649Gln)
|
rs749004200
|
0.00001
|
NM_004006.3(DMD):c.1959T>C (p.Asn653=)
|
rs770238198
|
0.00001
|
NM_004006.3(DMD):c.1965C>T (p.Val655=)
|
rs1255068879
|
0.00001
|
NM_004006.3(DMD):c.1989A>T (p.Ala663=)
|
rs925841475
|
0.00001
|
NM_004006.3(DMD):c.1998A>G (p.Ser666=)
|
rs1289591017
|
0.00001
|
NM_004006.3(DMD):c.2003C>T (p.Ala668Val)
|
rs1369143100
|
0.00001
|
NM_004006.3(DMD):c.2019G>A (p.Gln673=)
|
rs370310164
|
0.00001
|
NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)
|
rs367769606
|
0.00001
|
NM_004006.3(DMD):c.2163G>A (p.Arg721=)
|
rs2048850262
|
0.00001
|
NM_004006.3(DMD):c.21A>G (p.Val7=)
|
rs1374590369
|
0.00001
|
NM_004006.3(DMD):c.220C>T (p.Leu74=)
|
rs779111278
|
0.00001
|
NM_004006.3(DMD):c.2226G>A (p.Leu742=)
|
rs775246170
|
0.00001
|
NM_004006.3(DMD):c.2271A>C (p.Ser757=)
|
rs1478763130
|
0.00001
|
NM_004006.3(DMD):c.2292+10G>A
|
rs763586440
|
0.00001
|
NM_004006.3(DMD):c.2292+15A>G
|
rs757746393
|
0.00001
|
NM_004006.3(DMD):c.2297T>C (p.Ile766Thr)
|
rs1443021146
|
0.00001
|
NM_004006.3(DMD):c.2343C>T (p.Ser781=)
|
rs1247816528
|
0.00001
|
NM_004006.3(DMD):c.2344A>C (p.Arg782=)
|
rs886043764
|
0.00001
|
NM_004006.3(DMD):c.234C>T (p.Asn78=)
|
rs1370357378
|
0.00001
|
NM_004006.3(DMD):c.2367A>G (p.Glu789=)
|
rs376648723
|
0.00001
|
NM_004006.3(DMD):c.2380+8C>T
|
rs773219863
|
0.00001
|
NM_004006.3(DMD):c.2381-10T>G
|
rs2042997758
|
0.00001
|
NM_004006.3(DMD):c.2381-7T>G
|
rs1201559737
|
0.00001
|
NM_004006.3(DMD):c.2384G>T (p.Gly795Val)
|
rs760247534
|
0.00001
|
NM_004006.3(DMD):c.241C>T (p.Leu81=)
|
rs914011709
|
0.00001
|
NM_004006.3(DMD):c.2422C>T (p.Leu808=)
|
rs1289380956
|
0.00001
|
NM_004006.3(DMD):c.243G>A (p.Leu81=)
|
rs748842563
|
0.00001
|
NM_004006.3(DMD):c.245G>A (p.Arg82Gln)
|
rs1228664222
|
0.00001
|
NM_004006.3(DMD):c.2462A>G (p.Glu821Gly)
|
rs1420714074
|
0.00001
|
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)
|
rs778811645
|
0.00001
|
NM_004006.3(DMD):c.2500G>A (p.Ala834Thr)
|
rs767063127
|
0.00001
|
NM_004006.3(DMD):c.2505C>T (p.Phe835=)
|
rs771147195
|
0.00001
|
NM_004006.3(DMD):c.2530C>A (p.Gln844Lys)
|
rs768892830
|
0.00001
|
NM_004006.3(DMD):c.2551A>C (p.Asn851His)
|
rs753665097
|
0.00001
|
NM_004006.3(DMD):c.2599A>G (p.Lys867Glu)
|
rs1382610511
|
0.00001
|
NM_004006.3(DMD):c.2616T>C (p.Ile872=)
|
rs141423865
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.2622+10T>C
|
rs1261724426
|
0.00001
|
NM_004006.3(DMD):c.2622+15T>A
|
rs371244067
|
0.00001
|
NM_004006.3(DMD):c.264+8G>A
|
rs1194016618
|
0.00001
|
NM_004006.3(DMD):c.265-20T>G
|
rs762473651
|
0.00001
|
NM_004006.3(DMD):c.2682C>T (p.Ser894=)
|
rs398123904
|
0.00001
|
NM_004006.3(DMD):c.2712C>T (p.Pro904=)
|
rs1267801118
|
0.00001
|
NM_004006.3(DMD):c.2724T>G (p.Asp908Glu)
|
rs372780045
|
0.00001
|
NM_004006.3(DMD):c.2764T>G (p.Phe922Val)
|
rs185395584
|
0.00001
|
NM_004006.3(DMD):c.2841C>T (p.Thr947=)
|
rs777581919
|
0.00001
|
NM_004006.3(DMD):c.2893C>T (p.Pro965Ser)
|
rs1431281003
|
0.00001
|
NM_004006.3(DMD):c.2937C>T (p.Leu979=)
|
rs774450833
|
0.00001
|
NM_004006.3(DMD):c.294C>T (p.Asp98=)
|
rs965301743
|
0.00001
|
NM_004006.3(DMD):c.2950-9G>A
|
rs772822759
|
0.00001
|
NM_004006.3(DMD):c.2955A>G (p.Leu985=)
|
rs776362860
|
0.00001
|
NM_004006.3(DMD):c.2973G>A (p.Glu991=)
|
rs780454571
|
0.00001
|
NM_004006.3(DMD):c.2991C>T (p.Tyr997=)
|
rs863224992
|
0.00001
|
NM_004006.3(DMD):c.306A>G (p.Gly102=)
|
rs2078433503
|
0.00001
|
NM_004006.3(DMD):c.31+10A>G
|
rs1465099653
|
0.00001
|
NM_004006.3(DMD):c.31+20A>G
|
rs889480473
|
0.00001
|
NM_004006.3(DMD):c.3102C>A (p.Ser1034=)
|
rs1396624685
|
0.00001
|
NM_004006.3(DMD):c.3152G>A (p.Arg1051Gln)
|
rs761715369
|
0.00001
|
NM_004006.3(DMD):c.3163-7G>A
|
rs745663846
|
0.00001
|
NM_004006.3(DMD):c.3163-8C>T
|
rs764999101
|
0.00001
|
NM_004006.3(DMD):c.3167A>G (p.His1056Arg)
|
rs757192472
|
0.00001
|
NM_004006.3(DMD):c.3193G>C (p.Ala1065Pro)
|
rs774756042
|
0.00001
|
NM_004006.3(DMD):c.3195T>C (p.Ala1065=)
|
rs1339293733
|
0.00001
|
NM_004006.3(DMD):c.3198A>C (p.Glu1066Asp)
|
rs1334068605
|
0.00001
|
NM_004006.3(DMD):c.3210T>C (p.Phe1070=)
|
rs766693571
|
0.00001
|
NM_004006.3(DMD):c.3237G>A (p.Gly1079=)
|
rs748235011
|
0.00001
|
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)
|
rs886043493
|
0.00001
|
NM_004006.3(DMD):c.3249T>A (p.Ile1083=)
|
rs1235726996
|
0.00001
|
NM_004006.3(DMD):c.3252A>C (p.Leu1084=)
|
rs1186725881
|
0.00001
|
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)
|
rs183819382
|
0.00001
|
NM_004006.3(DMD):c.3387A>G (p.Thr1129=)
|
rs765737579
|
0.00001
|
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr)
|
rs398123940
|
0.00001
|
NM_004006.3(DMD):c.3531A>G (p.Glu1177=)
|
rs751711333
|
0.00001
|
NM_004006.3(DMD):c.3561T>C (p.Tyr1187=)
|
rs775514990
|
0.00001
|
NM_004006.3(DMD):c.3567T>A (p.Thr1189=)
|
rs370685748
|
0.00001
|
NM_004006.3(DMD):c.357+19G>A
|
rs1355430066
|
0.00001
|
NM_004006.3(DMD):c.3572A>G (p.Asp1191Gly)
|
rs745370476
|
0.00001
|
NM_004006.3(DMD):c.358-8A>G
|
rs1300529512
|
0.00001
|
NM_004006.3(DMD):c.3590T>C (p.Val1197Ala)
|
rs777955789
|
0.00001
|
NM_004006.3(DMD):c.3603+7_3603+8insT
|
rs1428887016
|
0.00001
|
NM_004006.3(DMD):c.3603+9A>C
|
rs781665647
|
0.00001
|
NM_004006.3(DMD):c.360C>A (p.Val120=)
|
rs779000587
|
0.00001
|
NM_004006.3(DMD):c.3612A>G (p.Lys1204=)
|
rs769985775
|
0.00001
|
NM_004006.3(DMD):c.3690T>G (p.Pro1230=)
|
rs1316770562
|
0.00001
|
NM_004006.3(DMD):c.3753C>T (p.Cys1251=)
|
rs778912710
|
0.00001
|
NM_004006.3(DMD):c.3768G>C (p.Gly1256=)
|
rs1322284845
|
0.00001
|
NM_004006.3(DMD):c.3777G>A (p.Lys1259=)
|
rs1445951268
|
0.00001
|
NM_004006.3(DMD):c.3786+17G>T
|
rs754831255
|
0.00001
|
NM_004006.3(DMD):c.3789A>G (p.Glu1263=)
|
rs1384918904
|
0.00001
|
NM_004006.3(DMD):c.381C>T (p.Ile127=)
|
rs1286648070
|
0.00001
|
NM_004006.3(DMD):c.3848A>G (p.Asn1283Ser)
|
rs778145106
|
0.00001
|
NM_004006.3(DMD):c.3891C>T (p.Gly1297=)
|
rs758317261
|
0.00001
|
NM_004006.3(DMD):c.3922-17T>C
|
rs1239531993
|
0.00001
|
NM_004006.3(DMD):c.3937A>G (p.Met1313Val)
|
rs794729003
|
0.00001
|
NM_004006.3(DMD):c.395A>G (p.Gln132Arg)
|
rs751455994
|
0.00001
|
NM_004006.3(DMD):c.396A>G (p.Gln132=)
|
rs1421854333
|
0.00001
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)
|
rs770827878
|
0.00001
|
NM_004006.3(DMD):c.3999C>T (p.Gly1333=)
|
rs140759792
|
0.00001
|
NM_004006.3(DMD):c.4014G>A (p.Glu1338=)
|
rs752324539
|
0.00001
|
NM_004006.3(DMD):c.402C>A (p.Thr134=)
|
rs1245288522
|
0.00001
|
NM_004006.3(DMD):c.4071+16A>G
|
rs756282540
|
0.00001
|
NM_004006.3(DMD):c.4072-19T>G
|
rs749647782
|
0.00001
|
NM_004006.3(DMD):c.4072-20C>T
|
rs1326524302
|
0.00001
|
NM_004006.3(DMD):c.4072-4T>A
|
rs755064178
|
0.00001
|
NM_004006.3(DMD):c.4072-8C>A
|
rs781198887
|
0.00001
|
NM_004006.3(DMD):c.4080G>A (p.Arg1360=)
|
rs143900318
|
0.00001
|
NM_004006.3(DMD):c.4105A>G (p.Ile1369Val)
|
rs978977375
|
0.00001
|
NM_004006.3(DMD):c.4131A>G (p.Lys1377=)
|
rs1800263
|
0.00001
|
NM_004006.3(DMD):c.414G>A (p.Lys138=)
|
rs1299509319
|
0.00001
|
NM_004006.3(DMD):c.4198A>G (p.Lys1400Glu)
|
rs1347208359
|
0.00001
|
NM_004006.3(DMD):c.4234-4A>G
|
rs764846703
|
0.00001
|
NM_004006.3(DMD):c.4299G>C (p.Gly1433=)
|
rs1174990294
|
0.00001
|
NM_004006.3(DMD):c.4311C>A (p.Ala1437=)
|
rs1410304028
|
0.00001
|
NM_004006.3(DMD):c.433C>A (p.Arg145=)
|
rs128626235
|
0.00001
|
NM_004006.3(DMD):c.4341A>C (p.Ala1447=)
|
rs1461224758
|
0.00001
|
NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)
|
rs755835144
|
0.00001
|
NM_004006.3(DMD):c.4383C>T (p.Phe1461=)
|
rs752977828
|
0.00001
|
NM_004006.3(DMD):c.4413A>G (p.Leu1471=)
|
rs1234449679
|
0.00001
|
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile)
|
rs765355046
|
0.00001
|
NM_004006.3(DMD):c.4458T>A (p.Pro1486=)
|
rs775097950
|
0.00001
|
NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg)
|
rs745462674
|
0.00001
|
NM_004006.3(DMD):c.4588G>A (p.Val1530Ile)
|
rs762743383
|
0.00001
|
NM_004006.3(DMD):c.4650G>A (p.Leu1550=)
|
rs772488016
|
0.00001
|
NM_004006.3(DMD):c.4692A>G (p.Gln1564=)
|
rs777776824
|
0.00001
|
NM_004006.3(DMD):c.471C>T (p.Ile157=)
|
rs1445172305
|
0.00001
|
NM_004006.3(DMD):c.4773T>C (p.Asp1591=)
|
rs886044358
|
0.00001
|
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)
|
rs398123966
|
0.00001
|
NM_004006.3(DMD):c.4785A>C (p.Thr1595=)
|
rs983181112
|
0.00001
|
NM_004006.3(DMD):c.4836C>A (p.Ala1612=)
|
rs959195857
|
0.00001
|
NM_004006.3(DMD):c.483C>G (p.Thr161=)
|
rs1210192846
|
0.00001
|
NM_004006.3(DMD):c.4845+7C>T
|
rs764100658
|
0.00001
|
NM_004006.3(DMD):c.4845+9T>C
|
rs756158338
|
0.00001
|
NM_004006.3(DMD):c.4951G>A (p.Asp1651Asn)
|
rs1369953471
|
0.00001
|
NM_004006.3(DMD):c.5001A>G (p.Ala1667=)
|
rs1603631751
|
0.00001
|
NM_004006.3(DMD):c.5026-8C>T
|
rs1057520973
|
0.00001
|
NM_004006.3(DMD):c.5040C>T (p.His1680=)
|
rs72468632
|
0.00001
|
NM_004006.3(DMD):c.5055C>T (p.Asp1685=)
|
rs1250411809
|
0.00001
|
NM_004006.3(DMD):c.5091G>T (p.Gln1697His)
|
rs766504075
|
0.00001
|
NM_004006.3(DMD):c.5149C>T (p.Leu1717Phe)
|
rs769383291
|
0.00001
|
NM_004006.3(DMD):c.514C>G (p.Leu172Val)
|
rs747353479
|
0.00001
|
NM_004006.3(DMD):c.5154+8A>G
|
rs781716282
|
0.00001
|
NM_004006.3(DMD):c.5154+9T>C
|
rs201165272
|
0.00001
|
NM_004006.3(DMD):c.5159T>C (p.Leu1720Ser)
|
rs772640289
|
0.00001
|
NM_004006.3(DMD):c.5183G>A (p.Arg1728His)
|
rs780599147
|
0.00001
|
NM_004006.3(DMD):c.5221T>C (p.Leu1741=)
|
rs1228749524
|
0.00001
|
NM_004006.3(DMD):c.5285A>T (p.His1762Leu)
|
rs1482260149
|
0.00001
|
NM_004006.3(DMD):c.531-17A>G
|
rs398123984
|
0.00001
|
NM_004006.3(DMD):c.531-6T>C
|
rs1369460201
|
0.00001
|
NM_004006.3(DMD):c.531-9G>T
|
rs780448549
|
0.00001
|
NM_004006.3(DMD):c.5325+10T>C
|
rs1379139737
|
0.00001
|
NM_004006.3(DMD):c.5326-7T>G
|
rs1431625295
|
0.00001
|
NM_004006.3(DMD):c.5370A>C (p.Ile1790=)
|
rs748336386
|
0.00001
|
NM_004006.3(DMD):c.5389C>T (p.Leu1797=)
|
rs1010693200
|
0.00001
|
NM_004006.3(DMD):c.5410G>A (p.Gly1804Arg)
|
rs753348797
|
0.00001
|
NM_004006.3(DMD):c.5439T>C (p.Asn1813=)
|
rs1238738620
|
0.00001
|
NM_004006.3(DMD):c.5449-14T>C
|
rs1569559115
|
0.00001
|
NM_004006.3(DMD):c.5454A>G (p.Glu1818=)
|
rs1187639845
|
0.00001
|
NM_004006.3(DMD):c.5468C>G (p.Thr1823Ser)
|
rs1465595838
|
0.00001
|
NM_004006.3(DMD):c.546C>T (p.Asp182=)
|
rs749008339
|
0.00001
|
NM_004006.3(DMD):c.5505A>G (p.Gln1835=)
|
rs778782916
|
0.00001
|
NM_004006.3(DMD):c.5509A>C (p.Arg1837=)
|
rs1367265135
|
0.00001
|
NM_004006.3(DMD):c.5531G>A (p.Arg1844Gln)
|
rs751221923
|
0.00001
|
NM_004006.3(DMD):c.554G>A (p.Ser185Asn)
|
rs1168876204
|
0.00001
|
NM_004006.3(DMD):c.555T>C (p.Ser185=)
|
rs755537358
|
0.00001
|
NM_004006.3(DMD):c.5601A>C (p.Gln1867His)
|
rs1057519179
|
0.00001
|
NM_004006.3(DMD):c.5617C>G (p.Leu1873Val)
|
rs769637913
|
0.00001
|
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)
|
rs398123994
|
0.00001
|
NM_004006.3(DMD):c.5703C>T (p.Ala1901=)
|
rs1212002938
|
0.00001
|
NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)
|
rs752774864
|
0.00001
|
NM_004006.3(DMD):c.5715G>A (p.Glu1905=)
|
rs1304283961
|
0.00001
|
NM_004006.3(DMD):c.5728A>C (p.Arg1910=)
|
rs761647447
|
0.00001
|
NM_004006.3(DMD):c.5739+8T>C
|
rs1321625981
|
0.00001
|
NM_004006.3(DMD):c.5740-9G>A
|
rs2097747738
|
0.00001
|
NM_004006.3(DMD):c.5820G>T (p.Gly1940=)
|
rs1404360892
|
0.00001
|
NM_004006.3(DMD):c.5823C>T (p.Ala1941=)
|
rs2097747204
|
0.00001
|
NM_004006.3(DMD):c.5844T>C (p.Thr1948=)
|
rs1169477197
|
0.00001
|
NM_004006.3(DMD):c.5922+10T>C
|
rs1393140621
|
0.00001
|
NM_004006.3(DMD):c.5922+11A>C
|
rs1394206261
|
0.00001
|
NM_004006.3(DMD):c.5923-6T>C
|
rs747486367
|
0.00001
|
NM_004006.3(DMD):c.5923-7A>G
|
rs769161854
|
0.00001
|
NM_004006.3(DMD):c.5964C>T (p.Asp1988=)
|
rs1057515869
|
0.00001
|
NM_004006.3(DMD):c.597A>C (p.Ala199=)
|
rs918198867
|
0.00001
|
NM_004006.3(DMD):c.5991T>C (p.Pro1997=)
|
rs1005302771
|
0.00001
|
NM_004006.3(DMD):c.6093C>T (p.Leu2031=)
|
rs745904383
|
0.00001
|
NM_004006.3(DMD):c.60A>G (p.Thr20=)
|
rs771449240
|
0.00001
|
NM_004006.3(DMD):c.6122T>C (p.Ile2041Thr)
|
rs749441036
|
0.00001
|
NM_004006.3(DMD):c.6138A>G (p.Gln2046=)
|
rs780018882
|
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.6194G>T (p.Ser2065Ile)
|
rs767872954
|
0.00001
|
NM_004006.3(DMD):c.6195T>C (p.Ser2065=)
|
rs398124006
|
0.00001
|
NM_004006.3(DMD):c.6200C>T (p.Thr2067Met)
|
rs1405599353
|
0.00001
|
NM_004006.3(DMD):c.6249C>T (p.Phe2083=)
|
rs2097447468
|
0.00001
|
NM_004006.3(DMD):c.6285A>G (p.Arg2095=)
|
rs1047077632
|
0.00001
|
NM_004006.3(DMD):c.6290+10A>C
|
rs777347376
|
0.00001
|
NM_004006.3(DMD):c.6290+10A>G
|
rs777347376
|
0.00001
|
NM_004006.3(DMD):c.6387G>A (p.Lys2129=)
|
rs758768498
|
0.00001
|
NM_004006.3(DMD):c.6393A>G (p.Gln2131=)
|
rs970683629
|
0.00001
|
NM_004006.3(DMD):c.639C>T (p.Leu213=)
|
rs779201084
|
0.00001
|
NM_004006.3(DMD):c.6438+10T>C
|
rs754382994
|
0.00001
|
NM_004006.3(DMD):c.6439-4A>G
|
rs1057523900
|
0.00001
|
NM_004006.3(DMD):c.6439-7C>T
|
rs1351413255
|
0.00001
|
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)
|
rs767681834
|
0.00001
|
NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)
|
rs892121336
|
0.00001
|
NM_004006.3(DMD):c.650-7C>T
|
rs759997772
|
0.00001
|
NM_004006.3(DMD):c.650-8G>T
|
rs772590878
|
0.00001
|
NM_004006.3(DMD):c.6511C>A (p.Gln2171Lys)
|
rs1203447654
|
0.00001
|
NM_004006.3(DMD):c.6513G>A (p.Gln2171=)
|
rs746191492
|
0.00001
|
NM_004006.3(DMD):c.6516A>G (p.Gln2172=)
|
rs1285172878
|
0.00001
|
NM_004006.3(DMD):c.6537T>C (p.Ser2179=)
|
rs2095369975
|
0.00001
|
NM_004006.3(DMD):c.6549A>G (p.Glu2183=)
|
rs2095369871
|
0.00001
|
NM_004006.3(DMD):c.6553T>C (p.Leu2185=)
|
rs1326630806
|
0.00001
|
NM_004006.3(DMD):c.657T>A (p.Asp219Glu)
|
rs771312947
|
0.00001
|
NM_004006.3(DMD):c.6587G>T (p.Cys2196Phe)
|
rs767738542
|
0.00001
|
NM_004006.3(DMD):c.6614+13A>T
|
rs72468603
|
0.00001
|
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)
|
rs139937177
|
0.00001
|
NM_004006.3(DMD):c.6778T>C (p.Leu2260=)
|
rs1176525732
|
0.00001
|
NM_004006.3(DMD):c.6831G>A (p.Val2277=)
|
rs1383802449
|
0.00001
|
NM_004006.3(DMD):c.6846C>T (p.Pro2282=)
|
rs1401270091
|
0.00001
|
NM_004006.3(DMD):c.6875A>G (p.Glu2292Gly)
|
rs770051396
|
0.00001
|
NM_004006.3(DMD):c.6891G>T (p.Gln2297His)
|
rs769249649
|
0.00001
|
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)
|
rs747055774
|
0.00001
|
NM_004006.3(DMD):c.6913-14T>C
|
rs777088003
|
0.00001
|
NM_004006.3(DMD):c.6913-9T>G
|
rs768998849
|
0.00001
|
NM_004006.3(DMD):c.6921A>G (p.Arg2307=)
|
rs756907565
|
0.00001
|
NM_004006.3(DMD):c.694A>C (p.Ile232Leu)
|
rs758447768
|
0.00001
|
NM_004006.3(DMD):c.7008G>A (p.Gln2336=)
|
rs1352231346
|
0.00001
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_004006.3(DMD):c.702A>C (p.Ser234=)
|
rs1350188088
|
0.00001
|
NM_004006.3(DMD):c.7035T>C (p.Ser2345=)
|
rs756961003
|
0.00001
|
NM_004006.3(DMD):c.7083A>C (p.Gly2361=)
|
rs1397611369
|
0.00001
|
NM_004006.3(DMD):c.7132G>A (p.Asp2378Asn)
|
rs1482902676
|
0.00001
|
NM_004006.3(DMD):c.7200+9G>A
|
rs748786108
|
0.00001
|
NM_004006.3(DMD):c.7235C>T (p.Ala2412Val)
|
rs771992420
|
0.00001
|
NM_004006.3(DMD):c.723A>G (p.Gln241=)
|
rs757071915
|
0.00001
|
NM_004006.3(DMD):c.7309+8T>C
|
rs751917131
|
0.00001
|
NM_004006.3(DMD):c.7309+9A>G
|
rs780560105
|
0.00001
|
NM_004006.3(DMD):c.7335G>A (p.Val2445=)
|
rs1329493987
|
0.00001
|
NM_004006.3(DMD):c.7338A>G (p.Thr2446=)
|
rs768213981
|
0.00001
|
NM_004006.3(DMD):c.7341A>G (p.Gln2447=)
|
rs780354773
|
0.00001
|
NM_004006.3(DMD):c.7386A>G (p.Pro2462=)
|
rs746360525
|
0.00001
|
NM_004006.3(DMD):c.7430G>A (p.Arg2477Gln)
|
rs764340452
|
0.00001
|
NM_004006.3(DMD):c.7490G>T (p.Arg2497Met)
|
rs1312256471
|
0.00001
|
NM_004006.3(DMD):c.7494G>A (p.Val2498=)
|
rs939673895
|
0.00001
|
NM_004006.3(DMD):c.7542+10A>G
|
rs398124046
|
0.00001
|
NM_004006.3(DMD):c.7543-15T>C
|
rs1261569690
|
0.00001
|
NM_004006.3(DMD):c.7543-19G>A
|
rs398124048
|
0.00001
|
NM_004006.3(DMD):c.7543-7C>T
|
rs184574404
|
0.00001
|
NM_004006.3(DMD):c.7579T>C (p.Leu2527=)
|
rs1183323125
|
0.00001
|
NM_004006.3(DMD):c.7597G>A (p.Ala2533Thr)
|
rs369583884
|
0.00001
|
NM_004006.3(DMD):c.7620G>A (p.Lys2540=)
|
rs1331437410
|
0.00001
|
NM_004006.3(DMD):c.7660+15A>G
|
rs876657452
|
0.00001
|
NM_004006.3(DMD):c.7661-4C>T
|
rs1208623169
|
0.00001
|
NM_004006.3(DMD):c.769C>T (p.Pro257Ser)
|
rs1305908922
|
0.00001
|
NM_004006.3(DMD):c.7783G>T (p.Val2595Phe)
|
rs1254164861
|
0.00001
|
NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)
|
rs747127624
|
0.00001
|
NM_004006.3(DMD):c.783T>G (p.Thr261=)
|
rs766726174
|
0.00001
|
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)
|
rs972664841
|
0.00001
|
NM_004006.3(DMD):c.7863A>G (p.Thr2621=)
|
rs777640637
|
0.00001
|
NM_004006.3(DMD):c.7872+13G>A
|
rs1569220234
|
0.00001
|
NM_004006.3(DMD):c.7873-4A>G
|
rs760693222
|
0.00001
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
NM_004006.3(DMD):c.7932C>T (p.Ala2644=)
|
rs1306571967
|
0.00001
|
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)
|
rs757902182
|
0.00001
|
NM_004006.3(DMD):c.7962T>C (p.Asp2654=)
|
rs374433647
|
0.00001
|
NM_004006.3(DMD):c.7969A>C (p.Arg2657=)
|
rs778467350
|
0.00001
|
NM_004006.3(DMD):c.7981A>G (p.Met2661Val)
|
rs764521635
|
0.00001
|
NM_004006.3(DMD):c.7992G>A (p.Glu2664=)
|
rs1402602960
|
0.00001
|
NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser)
|
rs371437381
|
0.00001
|
NM_004006.3(DMD):c.8001T>C (p.Asn2667=)
|
rs1395638836
|
0.00001
|
NM_004006.3(DMD):c.8028G>A (p.Arg2676=)
|
rs1237546420
|
0.00001
|
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)
|
rs755445214
|
0.00001
|
NM_004006.3(DMD):c.8130A>G (p.Thr2710=)
|
rs1603430185
|
0.00001
|
NM_004006.3(DMD):c.8137A>G (p.Asn2713Asp)
|
rs766553671
|
0.00001
|
NM_004006.3(DMD):c.8157C>G (p.Thr2719=)
|
rs1487090734
|
0.00001
|
NM_004006.3(DMD):c.8158C>T (p.Arg2720Cys)
|
rs375657730
|
0.00001
|
NM_004006.3(DMD):c.8169G>A (p.Arg2723=)
|
rs1569139778
|
0.00001
|
NM_004006.3(DMD):c.8173C>T (p.Leu2725=)
|
rs1292153681
|
0.00001
|
NM_004006.3(DMD):c.8175A>G (p.Leu2725=)
|
rs1569139704
|
0.00001
|
NM_004006.3(DMD):c.8181C>T (p.Asp2727=)
|
rs767417979
|
0.00001
|
NM_004006.3(DMD):c.8280A>G (p.Gln2760=)
|
rs1261007995
|
0.00001
|
NM_004006.3(DMD):c.8284A>G (p.Ile2762Val)
|
rs1050053654
|
0.00001
|
NM_004006.3(DMD):c.8296C>T (p.Leu2766=)
|
rs751387739
|
0.00001
|
NM_004006.3(DMD):c.831+9T>G
|
rs777394873
|
0.00001
|
NM_004006.3(DMD):c.832-3C>T
|
rs777492476
|
0.00001
|
NM_004006.3(DMD):c.8355G>A (p.Lys2785=)
|
rs772646759
|
0.00001
|
NM_004006.3(DMD):c.8368C>T (p.Arg2790Trp)
|
rs398124069
|
0.00001
|
NM_004006.3(DMD):c.8376G>A (p.Lys2792=)
|
rs779605822
|
0.00001
|
NM_004006.3(DMD):c.8385C>T (p.Asn2795=)
|
rs1158695925
|
0.00001
|
NM_004006.3(DMD):c.840C>T (p.Val280=)
|
rs752509961
|
0.00001
|
NM_004006.3(DMD):c.8418G>A (p.Gln2806=)
|
rs953271494
|
0.00001
|
NM_004006.3(DMD):c.8493G>A (p.Gln2831=)
|
rs1054990280
|
0.00001
|
NM_004006.3(DMD):c.8502T>C (p.Ile2834=)
|
rs1002021681
|
0.00001
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)
|
rs965718917
|
0.00001
|
NM_004006.3(DMD):c.8514T>C (p.Phe2838=)
|
rs1438909747
|
0.00001
|
NM_004006.3(DMD):c.8526G>C (p.Gln2842His)
|
rs1281466006
|
0.00001
|
NM_004006.3(DMD):c.8538T>C (p.Asp2846=)
|
rs1337601535
|
0.00001
|
NM_004006.3(DMD):c.8547+8A>G
|
rs1369777872
|
0.00001
|
NM_004006.3(DMD):c.8548-15C>T
|
rs752290681
|
0.00001
|
NM_004006.3(DMD):c.8553C>T (p.Phe2851=)
|
rs751229272
|
0.00001
|
NM_004006.3(DMD):c.855A>T (p.Gly285=)
|
rs1255558960
|
0.00001
|
NM_004006.3(DMD):c.860A>C (p.Glu287Ala)
|
rs1485322486
|
0.00001
|
NM_004006.3(DMD):c.861G>A (p.Glu287=)
|
rs1284806719
|
0.00001
|
NM_004006.3(DMD):c.8649A>G (p.Lys2883=)
|
rs780837172
|
0.00001
|
NM_004006.3(DMD):c.8669-7A>G
|
rs369638839
|
0.00001
|
NM_004006.3(DMD):c.8673G>C (p.Leu2891=)
|
rs1032573101
|
0.00001
|
NM_004006.3(DMD):c.8676T>C (p.Pro2892=)
|
rs757989996
|
0.00001
|
NM_004006.3(DMD):c.8694G>A (p.Gln2898=)
|
rs1162683398
|
0.00001
|
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp)
|
rs1188233243
|
0.00001
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
NM_004006.3(DMD):c.8735A>G (p.Asn2912Ser)
|
rs1227226131
|
0.00001
|
NM_004006.3(DMD):c.876T>A (p.Pro292=)
|
rs775261545
|
0.00001
|
NM_004006.3(DMD):c.877A>G (p.Lys293Glu)
|
rs960307751
|
0.00001
|
NM_004006.3(DMD):c.8808C>T (p.Leu2936=)
|
rs144147061
|
0.00001
|
NM_004006.3(DMD):c.8836C>T (p.Leu2946=)
|
rs776570515
|
0.00001
|
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)
|
rs185664502
|
0.00001
|
NM_004006.3(DMD):c.885A>T (p.Arg295=)
|
rs1290943376
|
0.00001
|
NM_004006.3(DMD):c.8865G>A (p.Val2955=)
|
rs374478841
|
0.00001
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)
|
rs755061434
|
0.00001
|
NM_004006.3(DMD):c.8913C>T (p.Leu2971=)
|
rs780354925
|
0.00001
|
NM_004006.3(DMD):c.8937+10A>C
|
rs773865736
|
0.00001
|
NM_004006.3(DMD):c.8937+10A>T
|
rs773865736
|
0.00001
|
NM_004006.3(DMD):c.8937+11C>T
|
rs1426517820
|
0.00001
|
NM_004006.3(DMD):c.8967A>G (p.Lys2989=)
|
rs886044142
|
0.00001
|
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)
|
rs762577093
|
0.00001
|
NM_004006.3(DMD):c.8997T>C (p.Ala2999=)
|
rs1470235199
|
0.00001
|
NM_004006.3(DMD):c.9051G>A (p.Leu3017=)
|
rs772255929
|
0.00001
|
NM_004006.3(DMD):c.9164-12C>A
|
rs767830254
|
0.00001
|
NM_004006.3(DMD):c.9164-17T>C
|
rs1419037992
|
0.00001
|
NM_004006.3(DMD):c.918T>C (p.Tyr306=)
|
rs149106712
|
0.00001
|
NM_004006.3(DMD):c.9225-8T>C
|
rs1307721844
|
0.00001
|
NM_004006.3(DMD):c.9225-9G>T
|
rs765266683
|
0.00001
|
NM_004006.3(DMD):c.9282T>C (p.Ser3094=)
|
rs1182774000
|
0.00001
|
NM_004006.3(DMD):c.9286+9A>G
|
rs1204013703
|
0.00001
|
NM_004006.3(DMD):c.9291C>T (p.Asp3097=)
|
rs796934165
|
0.00001
|
NM_004006.3(DMD):c.930T>C (p.Ser310=)
|
rs779577176
|
0.00001
|
NM_004006.3(DMD):c.9361+8T>C
|
rs768282679
|
0.00001
|
NM_004006.3(DMD):c.9361+9T>C
|
rs746607414
|
0.00001
|
NM_004006.3(DMD):c.9387A>G (p.Ala3129=)
|
rs767883773
|
0.00001
|
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly)
|
rs932848232
|
0.00001
|
NM_004006.3(DMD):c.9390T>C (p.Cys3130=)
|
rs1057523643
|
0.00001
|
NM_004006.3(DMD):c.94-19G>A
|
rs755925498
|
0.00001
|
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys)
|
rs779233737
|
0.00001
|
NM_004006.3(DMD):c.9483G>A (p.Leu3161=)
|
rs749737691
|
0.00001
|
NM_004006.3(DMD):c.9522C>T (p.Cys3174=)
|
rs765096423
|
0.00001
|
NM_004006.3(DMD):c.9525G>A (p.Val3175=)
|
rs1060502622
|
0.00001
|
NM_004006.3(DMD):c.9563+10G>T
|
rs1309532865
|
0.00001
|
NM_004006.3(DMD):c.9563+7A>G
|
rs1291131709
|
0.00001
|
NM_004006.3(DMD):c.9564-7A>G
|
rs1162179227
|
0.00001
|
NM_004006.3(DMD):c.9621T>C (p.Cys3207=)
|
rs1057524037
|
0.00001
|
NM_004006.3(DMD):c.9642G>C (p.Lys3214Asn)
|
rs1341389139
|
0.00001
|
NM_004006.3(DMD):c.9650-18T>A
|
rs1229708971
|
0.00001
|
NM_004006.3(DMD):c.9651C>T (p.Tyr3217=)
|
rs1313897024
|
0.00001
|
NM_004006.3(DMD):c.9690C>T (p.Asp3230=)
|
rs767474138
|
0.00001
|
NM_004006.3(DMD):c.969A>T (p.Glu323Asp)
|
rs774626343
|
0.00001
|
NM_004006.3(DMD):c.978A>G (p.Glu326=)
|
rs778154286
|
0.00001
|
NM_004006.3(DMD):c.9790C>T (p.Arg3264Trp)
|
rs373448002
|
0.00001
|
NM_004006.3(DMD):c.9791G>A (p.Arg3264Gln)
|
rs796102824
|
0.00001
|
NM_004006.3(DMD):c.9808-10G>A
|
rs1060504674
|
0.00001
|
NM_004006.3(DMD):c.9828C>T (p.Ile3276=)
|
rs757899883
|
0.00001
|
NM_004006.3(DMD):c.9879G>A (p.Val3293=)
|
rs970320801
|
0.00001
|
NM_004006.3(DMD):c.993C>A (p.Gly331=)
|
rs1214861321
|
0.00001
|
NM_004006.3(DMD):c.9945C>T (p.Ile3315=)
|
rs1164625872
|
0.00001
|
NM_004006.3(DMD):c.9985C>T (p.Leu3329=)
|
rs898179653
|
0.00001
|
NM_004006.3(DMD):c.999A>G (p.Ser333=)
|
rs748489730
|
0.00001
|
NM_004006.3(DMD):c.10005C>T (p.Asp3335=)
|
rs2148311833
|
|
NM_004006.3(DMD):c.1002G>A (p.Leu334=)
|
|
|
NM_004006.3(DMD):c.10032T>G (p.Gly3344=)
|
|
|
NM_004006.3(DMD):c.10033C>A (p.Arg3345=)
|
|
|
NM_004006.3(DMD):c.10038T>G (p.Val3346=)
|
|
|
NM_004006.3(DMD):c.10041A>C (p.Ala3347=)
|
|
|
NM_004006.3(DMD):c.10061A>G (p.Tyr3354Cys)
|
|
|
NM_004006.3(DMD):c.10065C>T (p.Pro3355=)
|
rs905619193
|
|
NM_004006.3(DMD):c.10071G>A (p.Val3357=)
|
|
|
NM_004006.3(DMD):c.10086+12G>A
|
|
|
NM_004006.3(DMD):c.10087-10T>C
|
|
|
NM_004006.3(DMD):c.10087-17C>A
|
|
|
NM_004006.3(DMD):c.10087-18C>A
|
|
|
NM_004006.3(DMD):c.10087-18C>G
|
|
|
NM_004006.3(DMD):c.10087-18C>T
|
|
|
NM_004006.3(DMD):c.10087-7C>G
|
rs2148292529
|
|
NM_004006.3(DMD):c.10087-8C>T
|
|
|
NM_004006.3(DMD):c.10089T>A (p.Thr3363=)
|
rs753017037
|
|
NM_004006.3(DMD):c.10089T>C (p.Thr3363=)
|
|
|
NM_004006.3(DMD):c.10092A>C (p.Thr3364=)
|
rs2148292363
|
|
NM_004006.3(DMD):c.10092A>G (p.Thr3364=)
|
rs2148292363
|
|
NM_004006.3(DMD):c.10110A>C (p.Arg3370=)
|
rs2148292097
|
|
NM_004006.3(DMD):c.10119C>G (p.Ala3373=)
|
rs2148292029
|
|
NM_004006.3(DMD):c.10122G>A (p.Lys3374=)
|
rs1556037420
|
|
NM_004006.3(DMD):c.10131A>G (p.Lys3377=)
|
rs2148291811
|
|
NM_004006.3(DMD):c.10143A>G (p.Arg3381=)
|
rs2148291648
|
|
NM_004006.3(DMD):c.10149A>G (p.Lys3383=)
|
rs2148291500
|
|
NM_004006.3(DMD):c.10152G>A (p.Arg3384=)
|
rs2040827447
|
|
NM_004006.3(DMD):c.10164G>A (p.Lys3388=)
|
|
|
NM_004006.3(DMD):c.10173A>C (p.Arg3391=)
|
|
|
NM_004006.3(DMD):c.10179C>T (p.Gly3393=)
|
rs2148290948
|
|
NM_004006.3(DMD):c.10215C>T (p.Asn3405=)
|
|
|
NM_004006.3(DMD):c.10223+15A>G
|
|
|
NM_004006.3(DMD):c.10223+18C>T
|
|
|
NM_004006.3(DMD):c.10223+20G>C
|
|
|
NM_004006.3(DMD):c.10223+8G>C
|
|
|
NM_004006.3(DMD):c.10224-19C>T
|
|
|
NM_004006.3(DMD):c.1022T>A (p.Leu341Gln)
|
|
|
NM_004006.3(DMD):c.10233T>C (p.Thr3411=)
|
|
|
NM_004006.3(DMD):c.10239C>T (p.Ile3413=)
|
|
|
NM_004006.3(DMD):c.1023G>A (p.Leu341=)
|
rs776707632
|
|
NM_004006.3(DMD):c.1023G>T (p.Leu341=)
|
|
|
NM_004006.3(DMD):c.10242C>T (p.Asn3414=)
|
|
|
NM_004006.3(DMD):c.10251A>G (p.Pro3417=)
|
rs2148280052
|
|
NM_004006.3(DMD):c.10252G>A (p.Val3418Ile)
|
|
|
NM_004006.3(DMD):c.10257T>C (p.Asp3419=)
|
rs2148279944
|
|
NM_004006.3(DMD):c.10260T>G (p.Ser3420=)
|
|
|
NM_004006.3(DMD):c.10262+13T>C
|
|
|
NM_004006.3(DMD):c.10262+14T>G
|
|
|
NM_004006.3(DMD):c.10262+1G>T
|
rs145603325
|
|
NM_004006.3(DMD):c.10262+8C>A
|
|
|
NM_004006.3(DMD):c.10263-6T>C
|
rs2148227688
|
|
NM_004006.3(DMD):c.10263-9G>A
|
rs1602370248
|
|
NM_004006.3(DMD):c.10266T>A (p.Pro3422=)
|
rs2148227575
|
|
NM_004006.3(DMD):c.10266T>C (p.Pro3422=)
|
|
|
NM_004006.3(DMD):c.1026C>T (p.Asp342=)
|
rs2059699090
|
|
NM_004006.3(DMD):c.10272G>C (p.Ser3424=)
|
|
|
NM_004006.3(DMD):c.10291G>A (p.Asp3431Asn)
|
rs776084073
|
|
NM_004006.3(DMD):c.10299T>C (p.Thr3433=)
|
|
|
NM_004006.3(DMD):c.102G>A (p.Lys34=)
|
|
|
NM_004006.3(DMD):c.10308C>G (p.Arg3436=)
|
rs780389106
|
|
NM_004006.3(DMD):c.10308C>T (p.Arg3436=)
|
rs780389106
|
|
NM_004006.3(DMD):c.10314A>G (p.Glu3438=)
|
|
|
NM_004006.3(DMD):c.10323T>C (p.Ala3441=)
|
rs2148226974
|
|
NM_004006.3(DMD):c.10328+10T>C
|
rs2148226766
|
|
NM_004006.3(DMD):c.10328+14T>C
|
|
|
NM_004006.3(DMD):c.10328+15G>C
|
|
|
NM_004006.3(DMD):c.10328+17A>G
|
|
|
NM_004006.3(DMD):c.10329-11dup
|
rs2148214110
|
|
NM_004006.3(DMD):c.10329-12G>A
|
|
|
NM_004006.3(DMD):c.10329-18T>C
|
|
|
NM_004006.3(DMD):c.10329-19C>A
|
|
|
NM_004006.3(DMD):c.10329-8T>C
|
rs2148214152
|
|
NM_004006.3(DMD):c.10362T>C (p.Tyr3454=)
|
rs1556028072
|
|
NM_004006.3(DMD):c.10363C>G (p.Leu3455Val)
|
rs2148213811
|
|
NM_004006.3(DMD):c.10394+19_10394+21del
|
|
|
NM_004006.3(DMD):c.10394+20_10394+21del
|
|
|
NM_004006.3(DMD):c.10394+7A>T
|
rs2040078160
|
|
NM_004006.3(DMD):c.10394+8T>C
|
|
|
NM_004006.3(DMD):c.10394+9C>T
|
rs2148213439
|
|
NM_004006.3(DMD):c.10395-10T>G
|
|
|
NM_004006.3(DMD):c.10395-14A>G
|
|
|
NM_004006.3(DMD):c.10395-17T>C
|
|
|
NM_004006.3(DMD):c.10395-19C>A
|
|
|
NM_004006.3(DMD):c.10395-9del
|
|
|
NM_004006.3(DMD):c.1042T>C (p.Leu348=)
|
|
|
NM_004006.3(DMD):c.10431A>G (p.Gln3477=)
|
|
|
NM_004006.3(DMD):c.10434T>C (p.Ser3478=)
|
rs2148184530
|
|
NM_004006.3(DMD):c.10440C>G (p.Asn3480Lys)
|
|
|
NM_004006.3(DMD):c.10440C>T (p.Asn3480=)
|
|
|
NM_004006.3(DMD):c.10449C>A (p.Ser3483=)
|
rs2148184305
|
|
NM_004006.3(DMD):c.1044A>G (p.Leu348=)
|
|
|
NM_004006.3(DMD):c.10452C>G (p.Pro3484=)
|
rs1225615433
|
|
NM_004006.3(DMD):c.10452C>T (p.Pro3484=)
|
|
|
NM_004006.3(DMD):c.10453C>T (p.Leu3485=)
|
rs2148184187
|
|
NM_004006.3(DMD):c.1047A>G (p.Glu349=)
|
|
|
NM_004006.3(DMD):c.10512G>A (p.Gly3504=)
|
|
|
NM_004006.3(DMD):c.10536T>G (p.Asp3512Glu)
|
|
|
NM_004006.3(DMD):c.1054T>C (p.Leu352=)
|
|
|
NM_004006.3(DMD):c.10553+10C>T
|
|
|
NM_004006.3(DMD):c.10553+12T>C
|
|
|
NM_004006.3(DMD):c.10553+12T>G
|
|
|
NM_004006.3(DMD):c.10553+20T>G
|
|
|
NM_004006.3(DMD):c.10554-12T>C
|
|
|
NM_004006.3(DMD):c.10554-16T>A
|
|
|
NM_004006.3(DMD):c.10554-19A>G
|
|
|
NM_004006.3(DMD):c.10554-20T>C
|
|
|
NM_004006.3(DMD):c.10554-4A>T
|
|
|
NM_004006.3(DMD):c.10554-5A>G
|
|
|
NM_004006.3(DMD):c.10554-8G>A
|
rs2147936613
|
|
NM_004006.3(DMD):c.10560G>A (p.Leu3520=)
|
rs2147936414
|
|
NM_004006.3(DMD):c.10560G>T (p.Leu3520=)
|
rs2147936414
|
|
NM_004006.3(DMD):c.1056A>G (p.Leu352=)
|
|
|
NM_004006.3(DMD):c.10572T>C (p.Tyr3524=)
|
rs886043817
|
|
NM_004006.3(DMD):c.10581A>G (p.Leu3527=)
|
|
|
NM_004006.3(DMD):c.10587G>A (p.Gln3529=)
|
rs1366436379
|
|
NM_004006.3(DMD):c.10591C>G (p.His3531Asp)
|
|
|
NM_004006.3(DMD):c.10595A>G (p.Glu3532Gly)
|
|
|
NM_004006.3(DMD):c.10611C>T (p.Ser3537=)
|
|
|
NM_004006.3(DMD):c.10623C>T (p.Ser3541=)
|
rs886043051
|
|
NM_004006.3(DMD):c.10626T>C (p.Pro3542=)
|
|
|
NM_004006.3(DMD):c.10629T>A (p.Pro3543=)
|
|
|
NM_004006.3(DMD):c.10641C>A (p.Pro3547=)
|
rs2147934871
|
|
NM_004006.3(DMD):c.10644C>T (p.Thr3548=)
|
|
|
NM_004006.3(DMD):c.10650C>A (p.Pro3550=)
|
rs2147934773
|
|
NM_004006.3(DMD):c.10653G>A (p.Gln3551=)
|
rs2147934686
|
|
NM_004006.3(DMD):c.1065T>C (p.Leu355=)
|
|
|
NM_004006.3(DMD):c.10662G>A (p.Arg3554=)
|
rs2147934549
|
|
NM_004006.3(DMD):c.10668T>C (p.Ala3556=)
|
rs2147934482
|
|
NM_004006.3(DMD):c.10674C>A (p.Leu3558=)
|
|
|
NM_004006.3(DMD):c.10680T>C (p.Ala3560=)
|
rs2147934403
|
|
NM_004006.3(DMD):c.10683G>A (p.Glu3561=)
|
|
|
NM_004006.3(DMD):c.10686C>T (p.Ala3562=)
|
rs2147934323
|
|
NM_004006.3(DMD):c.10734C>T (p.Ile3578=)
|
|
|
NM_004006.3(DMD):c.10740A>G (p.Glu3580=)
|
|
|
NM_004006.3(DMD):c.10743C>T (p.Asp3581=)
|
rs777330782
|
|
NM_004006.3(DMD):c.10756C>T (p.Leu3586=)
|
rs2147933928
|
|
NM_004006.3(DMD):c.10758G>A (p.Leu3586=)
|
rs2147933898
|
|
NM_004006.3(DMD):c.10761G>A (p.Glu3587=)
|
rs2147933829
|
|
NM_004006.3(DMD):c.10776G>A (p.Arg3592=)
|
|
|
NM_004006.3(DMD):c.10779A>G (p.Leu3593=)
|
rs2036836335
|
|
NM_004006.3(DMD):c.1077G>A (p.Glu359=)
|
|
|
NM_004006.3(DMD):c.10791G>C (p.Leu3597=)
|
|
|
NM_004006.3(DMD):c.10797+10G>A
|
rs1372889768
|
|
NM_004006.3(DMD):c.10797+14T>A
|
|
|
NM_004006.3(DMD):c.10797+14T>C
|
|
|
NM_004006.3(DMD):c.10797+17G>A
|
rs2147933057
|
|
NM_004006.3(DMD):c.10798-10G>A
|
rs2147922859
|
|
NM_004006.3(DMD):c.10798-16C>A
|
|
|
NM_004006.3(DMD):c.10798-4T>A
|
|
|
NM_004006.3(DMD):c.10798-7G>T
|
rs2036702452
|
|
NM_004006.3(DMD):c.10798-9A>C
|
|
|
NM_004006.3(DMD):c.10800C>A (p.Pro3600=)
|
rs2147922697
|
|
NM_004006.3(DMD):c.10818G>A (p.Val3606=)
|
rs998357801
|
|
NM_004006.3(DMD):c.10827A>C (p.Thr3609=)
|
rs2147922398
|
|
NM_004006.3(DMD):c.10830G>A (p.Thr3610=)
|
rs113604000
|
|
NM_004006.3(DMD):c.10832T>C (p.Val3611Ala)
|
|
|
NM_004006.3(DMD):c.1083A>T (p.Thr361=)
|
rs767325921
|
|
NM_004006.3(DMD):c.10848C>G (p.Thr3616=)
|
rs1602138712
|
|
NM_004006.3(DMD):c.1084T>C (p.Leu362=)
|
rs1556876311
|
|
NM_004006.3(DMD):c.1085T>C (p.Leu362Ser)
|
|
|
NM_004006.3(DMD):c.10864G>C (p.Asp3622His)
|
|
|
NM_004006.3(DMD):c.10866C>T (p.Asp3622=)
|
|
|
NM_004006.3(DMD):c.1086G>A (p.Leu362=)
|
rs2146833549
|
|
NM_004006.3(DMD):c.10872T>C (p.Ser3624=)
|
rs2147921726
|
|
NM_004006.3(DMD):c.10875G>A (p.Gln3625=)
|
rs2147921689
|
|
NM_004006.3(DMD):c.10878T>A (p.Pro3626=)
|
rs2147921616
|
|
NM_004006.3(DMD):c.10893G>A (p.Val3631=)
|
|
|
NM_004006.3(DMD):c.10893G>C (p.Val3631=)
|
rs1602138534
|
|
NM_004006.3(DMD):c.10895T>C (p.Val3632Ala)
|
|
|
NM_004006.3(DMD):c.10896T>G (p.Val3632=)
|
|
|
NM_004006.3(DMD):c.10905A>G (p.Gln3635=)
|
rs1602138365
|
|
NM_004006.3(DMD):c.10921+15T>C
|
|
|
NM_004006.3(DMD):c.10921+17C>T
|
|
|
NM_004006.3(DMD):c.10921+18T>C
|
rs2147920708
|
|
NM_004006.3(DMD):c.10921+19C>G
|
|
|
NM_004006.3(DMD):c.10921+7G>A
|
|
|
NM_004006.3(DMD):c.10921+7G>T
|
rs1060504677
|
|
NM_004006.3(DMD):c.10921+9C>A
|
|
|
NM_004006.3(DMD):c.10922-10T>C
|
|
|
NM_004006.3(DMD):c.10922-18G>C
|
|
|
NM_004006.3(DMD):c.10922-5T>C
|
|
|
NM_004006.3(DMD):c.10922-7T>C
|
|
|
NM_004006.3(DMD):c.10922-8T>C
|
|
|
NM_004006.3(DMD):c.10923T>C (p.Gly3641=)
|
rs1602035340
|
|
NM_004006.3(DMD):c.1095A>G (p.Gln365=)
|
|
|
NM_004006.3(DMD):c.10964G>A (p.Gly3655Glu)
|
|
|
NM_004006.3(DMD):c.1097G>T (p.Gly366Val)
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.10995C>T (p.Asn3665=)
|
rs1360899530
|
|
NM_004006.3(DMD):c.10998C>T (p.Ser3666=)
|
|
|
NM_004006.3(DMD):c.11001C>T (p.Phe3667=)
|
rs2147774145
|
|
NM_004006.3(DMD):c.11014+10A>C
|
rs2147773906
|
|
NM_004006.3(DMD):c.11014+11A>G
|
|
|
NM_004006.3(DMD):c.11014+12T>C
|
|
|
NM_004006.3(DMD):c.11014+15C>T
|
|
|
NM_004006.3(DMD):c.11014+16dup
|
|
|
NM_004006.3(DMD):c.11014+17A>G
|
|
|
NM_004006.3(DMD):c.11014+7T>C
|
|
|
NM_004006.3(DMD):c.11014+8C>T
|
rs1298765698
|
|
NM_004006.3(DMD):c.11015-10A>C
|
|
|
NM_004006.3(DMD):c.11015-10A>G
|
|
|
NM_004006.3(DMD):c.11015-11T>C
|
|
|
NM_004006.3(DMD):c.11015-12C>G
|
|
|
NM_004006.3(DMD):c.11015-16C>G
|
|
|
NM_004006.3(DMD):c.11015-16C>T
|
|
|
NM_004006.3(DMD):c.11015-18C>A
|
|
|
NM_004006.3(DMD):c.11015-18C>T
|
|
|
NM_004006.3(DMD):c.11015-18CT[2]
|
|
|
NM_004006.3(DMD):c.1101G>A (p.Glu367=)
|
rs2146833091
|
|
NM_004006.3(DMD):c.11031A>G (p.Gly3677=)
|
rs2147665754
|
|
NM_004006.3(DMD):c.11046+10A>G
|
|
|
NM_004006.3(DMD):c.11046+11T>A
|
|
|
NM_004006.3(DMD):c.11046+18T>G
|
rs2147665235
|
|
NM_004006.3(DMD):c.11046+9G>A
|
rs2147665463
|
|
NM_004006.3(DMD):c.11047-10T>C
|
|
|
NM_004006.3(DMD):c.11047-11_11047-10del
|
rs751483072
|
|
NM_004006.3(DMD):c.11047-12T>C
|
|
|
NM_004006.3(DMD):c.11047-13_11047-10del
|
|
|
NM_004006.3(DMD):c.11047-14T>G
|
|
|
NM_004006.3(DMD):c.11047-15CT[4]
|
|
|
NM_004006.3(DMD):c.11047-15_11047-10del
|
rs2147582953
|
|
NM_004006.3(DMD):c.11047-16T>C
|
|
|
NM_004006.3(DMD):c.11047-21TTCT[3]
|
|
|
NM_004006.3(DMD):c.11047-32_11047-8dup
|
|
|
NM_004006.3(DMD):c.11047-34_11047-7dup
|
rs2147582709
|
|
NM_004006.3(DMD):c.11047-3dup
|
|
|
NM_004006.3(DMD):c.11047-5T>C
|
|
|
NM_004006.3(DMD):c.11047-9_11047-6dup
|
|
|
NM_004006.3(DMD):c.1104T>A (p.Ile368=)
|
rs2059694784
|
|
NM_004006.3(DMD):c.11052A>C (p.Thr3684=)
|
|
|
NM_004006.3(DMD):c.11052A>G (p.Thr3684=)
|
rs1462215447
|
|
NM_004006.3(DMD):c.11052A>T (p.Thr3684=)
|
|
|
NM_004006.3(DMD):c.1107T>C (p.Ser369=)
|
|
|
NM_004006.3(DMD):c.111T>C (p.Ile37=)
|
|
|
NM_004006.3(DMD):c.1122G>A (p.Val374=)
|
|
|
NM_004006.3(DMD):c.1146T>C (p.His382=)
|
rs1045027122
|
|
NM_004006.3(DMD):c.1149+15T>C
|
|
|
NM_004006.3(DMD):c.1149+16A>C
|
|
|
NM_004006.3(DMD):c.1149+16A>G
|
|
|
NM_004006.3(DMD):c.1149+7T>C
|
rs2059692133
|
|
NM_004006.3(DMD):c.1149+8A>G
|
|
|
NM_004006.3(DMD):c.1149+8A>T
|
|
|
NM_004006.3(DMD):c.1150-12C>T
|
|
|
NM_004006.3(DMD):c.1150-13C>A
|
|
|
NM_004006.3(DMD):c.1150-18A>G
|
|
|
NM_004006.3(DMD):c.1150-5G>C
|
|
|
NM_004006.3(DMD):c.1150-9C>T
|
|
|
NM_004006.3(DMD):c.1152G>A (p.Gly384=)
|
rs1170501945
|
|
NM_004006.3(DMD):c.1152G>T (p.Gly384=)
|
rs1170501945
|
|
NM_004006.3(DMD):c.1170A>G (p.Thr390=)
|
|
|
NM_004006.3(DMD):c.1176T>C (p.His392=)
|
rs1057521572
|
|
NM_004006.3(DMD):c.1182C>A (p.Gly394=)
|
rs1271368946
|
|
NM_004006.3(DMD):c.1182C>T (p.Gly394=)
|
rs1271368946
|
|
NM_004006.3(DMD):c.1185G>A (p.Arg395=)
|
rs2146821665
|
|
NM_004006.3(DMD):c.1191T>C (p.Gly397=)
|
|
|
NM_004006.3(DMD):c.1197T>A (p.Ile399=)
|
rs777209816
|
|
NM_004006.3(DMD):c.1197T>C (p.Ile399=)
|
|
|
NM_004006.3(DMD):c.1198C>T (p.Leu400=)
|
|
|
NM_004006.3(DMD):c.1200A>G (p.Leu400=)
|
rs2059648126
|
|
NM_004006.3(DMD):c.1203A>G (p.Gln401=)
|
rs2146821203
|
|
NM_004006.3(DMD):c.1204T>C (p.Leu402=)
|
|
|
NM_004006.3(DMD):c.1216C>T (p.Leu406=)
|
|
|
NM_004006.3(DMD):c.1218G>C (p.Leu406=)
|
|
|
NM_004006.3(DMD):c.1218G>T (p.Leu406=)
|
|
|
NM_004006.3(DMD):c.1227A>G (p.Thr409=)
|
rs1214709701
|
|
NM_004006.3(DMD):c.1234T>C (p.Leu412=)
|
|
|
NM_004006.3(DMD):c.1239A>G (p.Ser413=)
|
rs751436295
|
|
NM_004006.3(DMD):c.1243G>A (p.Asp415Asn)
|
|
|
NM_004006.3(DMD):c.1251A>G (p.Glu417=)
|
|
|
NM_004006.3(DMD):c.1254T>G (p.Thr418=)
|
rs777002544
|
|
NM_004006.3(DMD):c.1260A>G (p.Val420=)
|
|
|
NM_004006.3(DMD):c.1261C>G (p.Gln421Glu)
|
|
|
NM_004006.3(DMD):c.1263A>G (p.Gln421=)
|
rs2146819736
|
|
NM_004006.3(DMD):c.126T>C (p.Ser42=)
|
|
|
NM_004006.3(DMD):c.1278C>T (p.Leu426=)
|
|
|
NM_004006.3(DMD):c.1281A>C (p.Leu427=)
|
rs1602459678
|
|
NM_004006.3(DMD):c.1287A>G (p.Ser429=)
|
rs1602459627
|
|
NM_004006.3(DMD):c.1303A>C (p.Arg435=)
|
|
|
NM_004006.3(DMD):c.1308A>G (p.Val436=)
|
rs2146818819
|
|
NM_004006.3(DMD):c.130C>T (p.Leu44=)
|
rs2149015436
|
|
NM_004006.3(DMD):c.1311T>G (p.Ala437=)
|
rs398123855
|
|
NM_004006.3(DMD):c.1314C>T (p.Ser438=)
|
rs747721896
|
|
NM_004006.3(DMD):c.1320A>G (p.Glu440=)
|
|
|
NM_004006.3(DMD):c.132A>G (p.Leu44=)
|
rs1316036563
|
|
NM_004006.3(DMD):c.1331+10T>G
|
rs746928829
|
|
NM_004006.3(DMD):c.1331+12T>C
|
rs1326201823
|
|
NM_004006.3(DMD):c.1331+8C>A
|
|
|
NM_004006.3(DMD):c.1331+9T>C
|
|
|
NM_004006.3(DMD):c.1332-10A>C
|
|
|
NM_004006.3(DMD):c.1332-10A>G
|
|
|
NM_004006.3(DMD):c.1332-11C>G
|
rs370927319
|
|
NM_004006.3(DMD):c.1332-13T>G
|
|
|
NM_004006.3(DMD):c.1332-16T>C
|
rs1203420988
|
|
NM_004006.3(DMD):c.1332-19G>C
|
|
|
NM_004006.3(DMD):c.1332-9A>T
|
|
|
NM_004006.3(DMD):c.1335A>G (p.Leu445=)
|
rs1487886667
|
|
NM_004006.3(DMD):c.1359G>A (p.Gln453=)
|
|
|
NM_004006.3(DMD):c.135G>A (p.Gln45=)
|
rs2149015372
|
|
NM_004006.3(DMD):c.1371G>C (p.Leu457=)
|
rs2149350281
|
|
NM_004006.3(DMD):c.1374A>G (p.Lys458=)
|
rs1057520902
|
|
NM_004006.3(DMD):c.1377G>A (p.Glu459=)
|
rs2149350233
|
|
NM_004006.3(DMD):c.1392A>G (p.Leu464=)
|
|
|
NM_004006.3(DMD):c.1401A>C (p.Thr467=)
|
|
|
NM_004006.3(DMD):c.1401A>G (p.Thr467=)
|
|
|
NM_004006.3(DMD):c.1412C>A (p.Thr471Lys)
|
|
|
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile)
|
rs201058100
|
|
NM_004006.3(DMD):c.141G>T (p.Gly47=)
|
|
|
NM_004006.3(DMD):c.1431G>A (p.Glu477=)
|
rs1003165905
|
|
NM_004006.3(DMD):c.143G>A (p.Arg48Lys)
|
|
|
NM_004006.3(DMD):c.1440A>C (p.Gly480=)
|
|
|
NM_004006.3(DMD):c.1447C>T (p.Leu483Phe)
|
|
|
NM_004006.3(DMD):c.1456C>T (p.Leu486=)
|
rs747050537
|
|
NM_004006.3(DMD):c.1458A>T (p.Leu486=)
|
|
|
NM_004006.3(DMD):c.1463G>T (p.Arg488Leu)
|
rs794727065
|
|
NM_004006.3(DMD):c.1467A>G (p.Gln489=)
|
|
|
NM_004006.3(DMD):c.1477C>T (p.His493Tyr)
|
|
|
NM_004006.3(DMD):c.147C>T (p.Arg49=)
|
rs2149015136
|
|
NM_004006.3(DMD):c.1482+11C>T
|
|
|
NM_004006.3(DMD):c.1482+14A>C
|
rs2149349342
|
|
NM_004006.3(DMD):c.1482+14A>G
|
|
|
NM_004006.3(DMD):c.1482+17T>C
|
|
|
NM_004006.3(DMD):c.1482+19G>A
|
|
|
NM_004006.3(DMD):c.1482+7_1482+12dup
|
|
|
NM_004006.3(DMD):c.1482+8dup
|
|
|
NM_004006.3(DMD):c.1482+9A>G
|
rs2057395101
|
|
NM_004006.3(DMD):c.1483-15C>T
|
|
|
NM_004006.3(DMD):c.1483-18A>C
|
|
|
NM_004006.3(DMD):c.1483-18A>T
|
|
|
NM_004006.3(DMD):c.1483-19A>T
|
|
|
NM_004006.3(DMD):c.1483-7C>T
|
rs112463388
|
|
NM_004006.3(DMD):c.1483-9A>G
|
rs2149265227
|
|
NM_004006.3(DMD):c.1483-9A>T
|
|
|
NM_004006.3(DMD):c.1485G>A (p.Val495=)
|
rs1601995262
|
|
NM_004006.3(DMD):c.1491A>G (p.Gln497=)
|
rs2149265146
|
|
NM_004006.3(DMD):c.1498C>T (p.Leu500=)
|
|
|
NM_004006.3(DMD):c.1500A>G (p.Leu500=)
|
rs2149265126
|
|
NM_004006.3(DMD):c.1506A>G (p.Gln502=)
|
rs2149265060
|
|
NM_004006.3(DMD):c.1509A>G (p.Glu503=)
|
|
|
NM_004006.3(DMD):c.1516A>C (p.Arg506=)
|
|
|
NM_004006.3(DMD):c.1521C>G (p.Val507=)
|
|
|
NM_004006.3(DMD):c.1530C>A (p.Leu510=)
|
|
|
NM_004006.3(DMD):c.1530C>G (p.Leu510=)
|
rs2149264903
|
|
NM_004006.3(DMD):c.1530C>T (p.Leu510=)
|
|
|
NM_004006.3(DMD):c.1536C>T (p.His512=)
|
rs776446238
|
|
NM_004006.3(DMD):c.1542G>C (p.Val514=)
|
rs1556834846
|
|
NM_004006.3(DMD):c.1545G>C (p.Val515=)
|
rs141590890
|
|
NM_004006.3(DMD):c.1545G>T (p.Val515=)
|
rs141590890
|
|
NM_004006.3(DMD):c.1548A>G (p.Val516=)
|
|
|
NM_004006.3(DMD):c.1548A>T (p.Val516=)
|
rs779579215
|
|
NM_004006.3(DMD):c.1557A>C (p.Glu519Asp)
|
|
|
NM_004006.3(DMD):c.1560T>C (p.Ser520=)
|
|
|
NM_004006.3(DMD):c.1568A>T (p.Asp523Val)
|
|
|
NM_004006.3(DMD):c.156C>T (p.Asp52=)
|
rs2149015032
|
|
NM_004006.3(DMD):c.1599T>A (p.Leu533=)
|
rs2149264428
|
|
NM_004006.3(DMD):c.159C>T (p.Leu53=)
|
rs762245872
|
|
NM_004006.3(DMD):c.1603-12T>A
|
|
|
NM_004006.3(DMD):c.1603-12T>G
|
|
|
NM_004006.3(DMD):c.1603-15T>C
|
|
|
NM_004006.3(DMD):c.1603-17G>T
|
|
|
NM_004006.3(DMD):c.1603-4C>G
|
rs377223643
|
|
NM_004006.3(DMD):c.1603-8T>C
|
|
|
NM_004006.3(DMD):c.1603-9C>G
|
|
|
NM_004006.3(DMD):c.1605A>G (p.Val535=)
|
|
|
NM_004006.3(DMD):c.1608G>A (p.Leu536=)
|
rs2052711395
|
|
NM_004006.3(DMD):c.1629C>A (p.Ile543=)
|
rs2052709240
|
|
NM_004006.3(DMD):c.1629C>T (p.Ile543=)
|
|
|
NM_004006.3(DMD):c.162C>A (p.Leu54=)
|
rs904011265
|
|
NM_004006.3(DMD):c.1632T>C (p.Cys544=)
|
|
|
NM_004006.3(DMD):c.1641A>G (p.Thr547=)
|
rs1394724423
|
|
NM_004006.3(DMD):c.1644A>G (p.Glu548=)
|
rs2149138602
|
|
NM_004006.3(DMD):c.1647C>A (p.Asp549Glu)
|
|
|
NM_004006.3(DMD):c.1659T>G (p.Leu553=)
|
|
|
NM_004006.3(DMD):c.165A>G (p.Glu55=)
|
|
|
NM_004006.3(DMD):c.1662A>G (p.Leu554=)
|
|
|
NM_004006.3(DMD):c.1671C>A (p.Ile557=)
|
rs1159051532
|
|
NM_004006.3(DMD):c.1671C>T (p.Ile557=)
|
rs1159051532
|
|
NM_004006.3(DMD):c.168C>T (p.Gly56=)
|
rs2149014882
|
|
NM_004006.3(DMD):c.169C>T (p.Leu57=)
|
|
|
NM_004006.3(DMD):c.1704+10G>A
|
|
|
NM_004006.3(DMD):c.1704+13T>C
|
|
|
NM_004006.3(DMD):c.1704+13T>G
|
|
|
NM_004006.3(DMD):c.1704+18A>T
|
|
|
NM_004006.3(DMD):c.1704+7C>T
|
rs2149137956
|
|
NM_004006.3(DMD):c.1704+8_1704+9del
|
rs1556810175
|
|
NM_004006.3(DMD):c.1705-13T>C
|
|
|
NM_004006.3(DMD):c.1705-4G>A
|
rs889499438
|
|
NM_004006.3(DMD):c.1705-9G>A
|
|
|
NM_004006.3(DMD):c.1705-9G>T
|
|
|
NM_004006.3(DMD):c.1710T>A (p.Leu570=)
|
|
|
NM_004006.3(DMD):c.1710T>G (p.Leu570=)
|
|
|
NM_004006.3(DMD):c.1719A>G (p.Ala573=)
|
rs2149137079
|
|
NM_004006.3(DMD):c.1728A>G (p.Ser576=)
|
|
|
NM_004006.3(DMD):c.1737A>G (p.Glu579=)
|
rs2052677189
|
|
NM_004006.3(DMD):c.1744G>T (p.Val582Leu)
|
|
|
NM_004006.3(DMD):c.1746G>T (p.Val582=)
|
|
|
NM_004006.3(DMD):c.1761A>T (p.Thr587=)
|
|
|
NM_004006.3(DMD):c.1767C>T (p.Gly589=)
|
rs2149136648
|
|
NM_004006.3(DMD):c.1776T>C (p.Asp592=)
|
|
|
NM_004006.3(DMD):c.177G>A (p.Gly59=)
|
|
|
NM_004006.3(DMD):c.1785A>G (p.Glu595=)
|
|
|
NM_004006.3(DMD):c.1812+10T>C
|
|
|
NM_004006.3(DMD):c.1812+11T>C
|
|
|
NM_004006.3(DMD):c.1812+16C>G
|
|
|
NM_004006.3(DMD):c.1812+16del
|
|
|
NM_004006.3(DMD):c.1812+17T>A
|
rs2149136061
|
|
NM_004006.3(DMD):c.1812+19T>G
|
rs917293982
|
|
NM_004006.3(DMD):c.1812+7A>G
|
rs1407742966
|
|
NM_004006.3(DMD):c.1812+8C>T
|
|
|
NM_004006.3(DMD):c.1813-10G>A
|
rs2149095769
|
|
NM_004006.3(DMD):c.1813-12T>C
|
|
|
NM_004006.3(DMD):c.1813-12T>G
|
rs1260140947
|
|
NM_004006.3(DMD):c.1813-17C>A
|
|
|
NM_004006.3(DMD):c.1813-18T>C
|
|
|
NM_004006.3(DMD):c.1813-4A>T
|
|
|
NM_004006.3(DMD):c.1813-5A>G
|
|
|
NM_004006.3(DMD):c.1813-6T>C
|
rs902098014
|
|
NM_004006.3(DMD):c.1813-7T>A
|
rs2149095759
|
|
NM_004006.3(DMD):c.1813-8_1813-6del
|
rs750014233
|
|
NM_004006.3(DMD):c.1821A>G (p.Lys607=)
|
|
|
NM_004006.3(DMD):c.1824G>T (p.Ala608=)
|
rs151013182
|
|
NM_004006.3(DMD):c.1827T>C (p.Asp609=)
|
|
|
NM_004006.3(DMD):c.1839A>G (p.Lys613=)
|
|
|
NM_004006.3(DMD):c.1842G>A (p.Lys614=)
|
rs2149095471
|
|
NM_004006.3(DMD):c.1847C>T (p.Ser616Phe)
|
|
|
NM_004006.3(DMD):c.1848C>T (p.Ser616=)
|
|
|
NM_004006.3(DMD):c.1857A>G (p.Lys619=)
|
rs2149095350
|
|
NM_004006.3(DMD):c.1858C>T (p.Leu620=)
|
|
|
NM_004006.3(DMD):c.186+12_186+13insACT
|
|
|
NM_004006.3(DMD):c.186+15T>C
|
|
|
NM_004006.3(DMD):c.186+19A>G
|
|
|
NM_004006.3(DMD):c.186+20G>A
|
|
|
NM_004006.3(DMD):c.186+20G>C
|
|
|
NM_004006.3(DMD):c.186+7G>A
|
rs1603448401
|
|
NM_004006.3(DMD):c.186+8A>C
|
rs1603448399
|
|
NM_004006.3(DMD):c.1860G>A (p.Leu620=)
|
rs1265879659
|
|
NM_004006.3(DMD):c.1860G>T (p.Leu620=)
|
|
|
NM_004006.3(DMD):c.1866A>G (p.Ser622=)
|
|
|
NM_004006.3(DMD):c.187-13G>A
|
|
|
NM_004006.3(DMD):c.187-13_187-11del
|
|
|
NM_004006.3(DMD):c.187-14T>G
|
|
|
NM_004006.3(DMD):c.187-15_187-14del
|
|
|
NM_004006.3(DMD):c.187-18C>G
|
|
|
NM_004006.3(DMD):c.187-19T>A
|
|
|
NM_004006.3(DMD):c.187-19T>C
|
|
|
NM_004006.3(DMD):c.187-20C>A
|
|
|
NM_004006.3(DMD):c.187-20C>T
|
|
|
NM_004006.3(DMD):c.1881T>G (p.Leu627=)
|
rs2149095226
|
|
NM_004006.3(DMD):c.1884T>G (p.Leu628=)
|
rs2149095192
|
|
NM_004006.3(DMD):c.1899T>C (p.Asn633=)
|
|
|
NM_004006.3(DMD):c.189A>T (p.Pro63=)
|
rs1603447077
|
|
NM_004006.3(DMD):c.18A>G (p.Glu6=)
|
rs2148864152
|
|
NM_004006.3(DMD):c.1905A>T (p.Ser635=)
|
|
|
NM_004006.3(DMD):c.1910C>T (p.Thr637Ile)
|
|
|
NM_004006.3(DMD):c.1911C>A (p.Thr637=)
|
rs928561454
|
|
NM_004006.3(DMD):c.1914G>A (p.Gln638=)
|
|
|
NM_004006.3(DMD):c.1923A>G (p.Glu641=)
|
rs2149094887
|
|
NM_004006.3(DMD):c.1926A>G (p.Ala642=)
|
rs1060504678
|
|
NM_004006.3(DMD):c.1930C>T (p.Leu644=)
|
|
|
NM_004006.3(DMD):c.1932G>C (p.Leu644=)
|
rs1385046896
|
|
NM_004006.3(DMD):c.1938C>T (p.Asn646=)
|
|
|
NM_004006.3(DMD):c.1944C>T (p.Ala648=)
|
|
|
NM_004006.3(DMD):c.1947G>T (p.Arg649=)
|
rs1603636539
|
|
NM_004006.3(DMD):c.1965C>A (p.Val655=)
|
rs1255068879
|
|
NM_004006.3(DMD):c.1983T>C (p.Ser661=)
|
rs1603636536
|
|
NM_004006.3(DMD):c.1992+11C>A
|
|
|
NM_004006.3(DMD):c.1992+12del
|
|
|
NM_004006.3(DMD):c.1992+13A>T
|
|
|
NM_004006.3(DMD):c.1992+14A>G
|
|
|
NM_004006.3(DMD):c.1992+15T>C
|
|
|
NM_004006.3(DMD):c.1992+19_1992+21del
|
|
|
NM_004006.3(DMD):c.1992+20A>G
|
|
|
NM_004006.3(DMD):c.1992+20A>T
|
|
|
NM_004006.3(DMD):c.1992+8A>G
|
|
|
NM_004006.3(DMD):c.1993-10C>A
|
|
|
NM_004006.3(DMD):c.1993-10C>T
|
rs1226290209
|
|
NM_004006.3(DMD):c.1993-12T>C
|
rs2148960589
|
|
NM_004006.3(DMD):c.1993-15C>T
|
|
|
NM_004006.3(DMD):c.1993-20T>G
|
|
|
NM_004006.3(DMD):c.1993-21_1993-20del
|
rs2148960632
|
|
NM_004006.3(DMD):c.1993-5C>T
|
|
|
NM_004006.3(DMD):c.1993-5CA[4]
|
rs761270890
|
|
NM_004006.3(DMD):c.1993-7C>G
|
rs1312369324
|
|
NM_004006.3(DMD):c.1993-7C>T
|
|
|
NM_004006.3(DMD):c.1995T>A (p.Ile665=)
|
|
|
NM_004006.3(DMD):c.1998A>T (p.Ser666=)
|
rs1289591017
|
|
NM_004006.3(DMD):c.2007C>T (p.Val669=)
|
|
|
NM_004006.3(DMD):c.2008A>T (p.Thr670Ser)
|
rs1476533504
|
|
NM_004006.3(DMD):c.2010C>T (p.Thr670=)
|
rs1603635956
|
|
NM_004006.3(DMD):c.2013C>T (p.Thr671=)
|
|
|
NM_004006.3(DMD):c.201A>C (p.Gly67=)
|
|
|
NM_004006.3(DMD):c.2022A>T (p.Pro674=)
|
rs2148960341
|
|
NM_004006.3(DMD):c.2025A>T (p.Ser675=)
|
|
|
NM_004006.3(DMD):c.2028A>G (p.Leu676=)
|
rs2048864976
|
|
NM_004006.3(DMD):c.2031A>C (p.Thr677=)
|
|
|
NM_004006.3(DMD):c.2031A>G (p.Thr677=)
|
rs2148960297
|
|
NM_004006.3(DMD):c.2037A>G (p.Thr679=)
|
rs2148960188
|
|
NM_004006.3(DMD):c.2040T>C (p.Thr680=)
|
rs2148960126
|
|
NM_004006.3(DMD):c.2043A>G (p.Val681=)
|
rs2048863086
|
|
NM_004006.3(DMD):c.2043A>T (p.Val681=)
|
|
|
NM_004006.3(DMD):c.204C>G (p.Ser68=)
|
|
|
NM_004006.3(DMD):c.2052A>G (p.Thr684=)
|
|
|
NM_004006.3(DMD):c.2058T>A (p.Thr686=)
|
|
|
NM_004006.3(DMD):c.2061G>A (p.Thr687=)
|
|
|
NM_004006.3(DMD):c.2061G>C (p.Thr687=)
|
rs1057523030
|
|
NM_004006.3(DMD):c.2079G>A (p.Gln693=)
|
rs761441684
|
|
NM_004006.3(DMD):c.2082C>A (p.Ile694=)
|
rs2048859368
|
|
NM_004006.3(DMD):c.2097T>C (p.Ala699=)
|
|
|
NM_004006.3(DMD):c.2098C>G (p.Gln700Glu)
|
|
|
NM_004006.3(DMD):c.2112A>C (p.Pro704=)
|
|
|
NM_004006.3(DMD):c.2118A>T (p.Pro706=)
|
|
|
NM_004006.3(DMD):c.2119C>G (p.Pro707Ala)
|
|
|
NM_004006.3(DMD):c.2121T>A (p.Pro707=)
|
rs1603635948
|
|
NM_004006.3(DMD):c.2121T>G (p.Pro707=)
|
rs1603635948
|
|
NM_004006.3(DMD):c.2124C>A (p.Pro708=)
|
rs779983579
|
|
NM_004006.3(DMD):c.2126A>G (p.Gln709Arg)
|
|
|
NM_004006.3(DMD):c.2127A>G (p.Gln709=)
|
|
|
NM_004006.3(DMD):c.2133G>A (p.Lys711=)
|
rs1460468240
|
|
NM_004006.3(DMD):c.2136G>A (p.Arg712=)
|
rs2148959198
|
|
NM_004006.3(DMD):c.2155G>C (p.Glu719Gln)
|
|
|
NM_004006.3(DMD):c.2168+10T>G
|
|
|
NM_004006.3(DMD):c.2168+11C>G
|
rs376214348
|
|
NM_004006.3(DMD):c.2168+12T>A
|
|
|
NM_004006.3(DMD):c.2168+17C>T
|
|
|
NM_004006.3(DMD):c.2168+18T>G
|
|
|
NM_004006.3(DMD):c.2168+20T>G
|
|
|
NM_004006.3(DMD):c.2168+7G>A
|
|
|
NM_004006.3(DMD):c.2168+8C>T
|
rs1197531055
|
|
NM_004006.3(DMD):c.2168+9A>G
|
rs2148958962
|
|
NM_004006.3(DMD):c.2169-10G>A
|
|
|
NM_004006.3(DMD):c.2169-10G>T
|
|
|
NM_004006.3(DMD):c.2169-10del
|
|
|
NM_004006.3(DMD):c.2169-14T>A
|
|
|
NM_004006.3(DMD):c.2169-18T>C
|
|
|
NM_004006.3(DMD):c.2169-20T>A
|
|
|
NM_004006.3(DMD):c.2169-20T>G
|
|
|
NM_004006.3(DMD):c.2169-4T>A
|
rs2148805046
|
|
NM_004006.3(DMD):c.2169-5C>A
|
|
|
NM_004006.3(DMD):c.2169-5C>G
|
rs2046042322
|
|
NM_004006.3(DMD):c.2169-7G>A
|
|
|
NM_004006.3(DMD):c.2169-7G>T
|
rs398123878
|
|
NM_004006.3(DMD):c.2169-7_2169-4del
|
rs746108360
|
|
NM_004006.3(DMD):c.2169-8T>C
|
rs2148805110
|
|
NM_004006.3(DMD):c.2169-9C>T
|
|
|
NM_004006.3(DMD):c.2175T>C (p.Asp725=)
|
rs2148804903
|
|
NM_004006.3(DMD):c.2181T>C (p.Asp727=)
|
|
|
NM_004006.3(DMD):c.2190A>G (p.Glu730=)
|
|
|
NM_004006.3(DMD):c.2193T>G (p.Leu731=)
|
|
|
NM_004006.3(DMD):c.2196C>T (p.His732=)
|
rs1465455316
|
|
NM_004006.3(DMD):c.2208T>A (p.Thr736=)
|
|
|
NM_004006.3(DMD):c.2208T>C (p.Thr736=)
|
|
|
NM_004006.3(DMD):c.2211C>T (p.Arg737=)
|
|
|
NM_004006.3(DMD):c.2213C>T (p.Ser738Leu)
|
|
|
NM_004006.3(DMD):c.2214A>G (p.Ser738=)
|
rs770003232
|
|
NM_004006.3(DMD):c.2217A>G (p.Glu739=)
|
rs2148804488
|
|
NM_004006.3(DMD):c.2217A>T (p.Glu739Asp)
|
|
|
NM_004006.3(DMD):c.2223G>A (p.Val741=)
|
rs2148804428
|
|
NM_004006.3(DMD):c.2223G>T (p.Val741=)
|
|
|
NM_004006.3(DMD):c.2232T>C (p.Ser744=)
|
rs2148804367
|
|
NM_004006.3(DMD):c.2241T>C (p.Phe747=)
|
rs2046035465
|
|
NM_004006.3(DMD):c.2244A>C (p.Ala748=)
|
|
|
NM_004006.3(DMD):c.2253G>A (p.Arg751=)
|
|
|
NM_004006.3(DMD):c.2253G>T (p.Arg751=)
|
|
|
NM_004006.3(DMD):c.2256G>A (p.Lys752=)
|
|
|
NM_004006.3(DMD):c.2268C>T (p.Phe756=)
|
|
|
NM_004006.3(DMD):c.2283A>G (p.Glu761=)
|
|
|
NM_004006.3(DMD):c.2292+11C>T
|
|
|
NM_004006.3(DMD):c.2292+17T>G
|
|
|
NM_004006.3(DMD):c.2292+8A>G
|
|
|
NM_004006.3(DMD):c.2293-10C>T
|
rs2044088981
|
|
NM_004006.3(DMD):c.2293-11T>C
|
|
|
NM_004006.3(DMD):c.2293-12C>A
|
|
|
NM_004006.3(DMD):c.2293-12C>T
|
rs2148691888
|
|
NM_004006.3(DMD):c.2293-14C>T
|
|
|
NM_004006.3(DMD):c.2293-15G>T
|
rs369384547
|
|
NM_004006.3(DMD):c.2293-16T>C
|
rs2148691929
|
|
NM_004006.3(DMD):c.2293-19C>G
|
|
|
NM_004006.3(DMD):c.2293-20T>C
|
|
|
NM_004006.3(DMD):c.2293-4G>C
|
|
|
NM_004006.3(DMD):c.2293-6C>T
|
|
|
NM_004006.3(DMD):c.2293-7G>T
|
|
|
NM_004006.3(DMD):c.2293-9A>T
|
rs2148691845
|
|
NM_004006.3(DMD):c.2302C>A (p.Arg768=)
|
rs201366610
|
|
NM_004006.3(DMD):c.2328A>G (p.Lys776=)
|
rs1603634973
|
|
NM_004006.3(DMD):c.2331G>A (p.Leu777=)
|
rs369659071
|
|
NM_004006.3(DMD):c.2331G>T (p.Leu777=)
|
rs369659071
|
|
NM_004006.3(DMD):c.2334A>G (p.Gln778=)
|
|
|
NM_004006.3(DMD):c.2337T>C (p.Asp779=)
|
rs758795722
|
|
NM_004006.3(DMD):c.2337T>G (p.Asp779Glu)
|
|
|
NM_004006.3(DMD):c.2349A>T (p.Ser783=)
|
|
|
NM_004006.3(DMD):c.2358C>T (p.Ala786=)
|
|
|
NM_004006.3(DMD):c.2361G>C (p.Leu787=)
|
|
|
NM_004006.3(DMD):c.2376G>A (p.Val792=)
|
rs2148690761
|
|
NM_004006.3(DMD):c.2380+10C>A
|
|
|
NM_004006.3(DMD):c.2380+11G>C
|
|
|
NM_004006.3(DMD):c.2380+11G>T
|
|
|
NM_004006.3(DMD):c.2380+11dup
|
|
|
NM_004006.3(DMD):c.2380+12A>G
|
|
|
NM_004006.3(DMD):c.2380+13G>A
|
rs2148690560
|
|
NM_004006.3(DMD):c.2380+14T>A
|
|
|
NM_004006.3(DMD):c.2380+14T>C
|
|
|
NM_004006.3(DMD):c.2380+20T>C
|
|
|
NM_004006.3(DMD):c.2380+7A>G
|
rs1004796638
|
|
NM_004006.3(DMD):c.2380+7A>T
|
rs1004796638
|
|
NM_004006.3(DMD):c.2381-11T>A
|
rs1557383843
|
|
NM_004006.3(DMD):c.2381-11T>C
|
|
|
NM_004006.3(DMD):c.2381-15T>C
|
|
|
NM_004006.3(DMD):c.2381-15T>G
|
|
|
NM_004006.3(DMD):c.2381-16del
|
|
|
NM_004006.3(DMD):c.2381-4C>A
|
|
|
NM_004006.3(DMD):c.2381-4C>T
|
|
|
NM_004006.3(DMD):c.2394A>G (p.Ala798=)
|
rs2148632774
|
|
NM_004006.3(DMD):c.2394A>T (p.Ala798=)
|
rs2148632774
|
|
NM_004006.3(DMD):c.2397T>C (p.Asp799=)
|
rs2148632755
|
|
NM_004006.3(DMD):c.2400C>T (p.Ser800=)
|
rs142115986
|
|
NM_004006.3(DMD):c.2404A>C (p.Lys802Gln)
|
|
|
NM_004006.3(DMD):c.240A>C (p.Ala80=)
|
|
|
NM_004006.3(DMD):c.2412C>T (p.Ala804=)
|
rs2042993060
|
|
NM_004006.3(DMD):c.2424G>A (p.Leu808=)
|
rs748257989
|
|
NM_004006.3(DMD):c.2430C>T (p.Ser810=)
|
rs2148632345
|
|
NM_004006.3(DMD):c.2433G>A (p.Arg811=)
|
|
|
NM_004006.3(DMD):c.2439C>T (p.Ile813=)
|
|
|
NM_004006.3(DMD):c.243G>C (p.Leu81=)
|
|
|
NM_004006.3(DMD):c.243G>T (p.Leu81=)
|
|
|
NM_004006.3(DMD):c.2442A>G (p.Glu814=)
|
rs1401119708
|
|
NM_004006.3(DMD):c.2445C>T (p.Phe815=)
|
rs2148632157
|
|
NM_004006.3(DMD):c.244C>A (p.Arg82=)
|
|
|
NM_004006.3(DMD):c.2451G>A (p.Gln817=)
|
rs1468177610
|
|
NM_004006.3(DMD):c.2454G>A (p.Leu818=)
|
|
|
NM_004006.3(DMD):c.2460T>C (p.Ser820=)
|
|
|
NM_004006.3(DMD):c.2466A>G (p.Arg822=)
|
|
|
NM_004006.3(DMD):c.2467C>T (p.Leu823Phe)
|
|
|
NM_004006.3(DMD):c.246G>A (p.Arg82=)
|
rs2148984412
|
|
NM_004006.3(DMD):c.2472C>T (p.Asn824=)
|
|
|
NM_004006.3(DMD):c.2476C>G (p.Leu826Val)
|
|
|
NM_004006.3(DMD):c.2484T>C (p.Tyr828=)
|
rs727503858
|
|
NM_004006.3(DMD):c.2499C>G (p.Ile833Met)
|
|
|
NM_004006.3(DMD):c.2499C>T (p.Ile833=)
|
rs752188036
|
|
NM_004006.3(DMD):c.2503T>C (p.Phe835Leu)
|
|
|
NM_004006.3(DMD):c.2508T>C (p.Tyr836=)
|
rs886044674
|
|
NM_004006.3(DMD):c.2537C>G (p.Thr846Arg)
|
|
|
NM_004006.3(DMD):c.2553C>T (p.Asn851=)
|
|
|
NM_004006.3(DMD):c.2555G>T (p.Trp852Leu)
|
|
|
NM_004006.3(DMD):c.255G>A (p.Gln85=)
|
|
|
NM_004006.3(DMD):c.2565C>A (p.Ile855=)
|
rs2148630935
|
|
NM_004006.3(DMD):c.2565C>T (p.Ile855=)
|
rs2148630935
|
|
NM_004006.3(DMD):c.2568A>G (p.Gln856=)
|
rs2148630906
|
|
NM_004006.3(DMD):c.2571C>T (p.Pro857=)
|
rs2148630865
|
|
NM_004006.3(DMD):c.2573C>T (p.Thr858Ile)
|
|
|
NM_004006.3(DMD):c.2574C>G (p.Thr858=)
|
rs370399617
|
|
NM_004006.3(DMD):c.2574C>T (p.Thr858=)
|
rs370399617
|
|
NM_004006.3(DMD):c.2577C>A (p.Thr859=)
|
|
|
NM_004006.3(DMD):c.2580A>T (p.Pro860=)
|
|
|
NM_004006.3(DMD):c.2586G>A (p.Glu862=)
|
rs2148630657
|
|
NM_004006.3(DMD):c.258C>T (p.Asn86=)
|
rs1368237586
|
|
NM_004006.3(DMD):c.2592A>G (p.Thr864=)
|
rs2148630610
|
|
NM_004006.3(DMD):c.2598T>C (p.Ile866=)
|
|
|
NM_004006.3(DMD):c.2600A>G (p.Lys867Arg)
|
|
|
NM_004006.3(DMD):c.2619T>C (p.Cys873=)
|
rs775634913
|
|
NM_004006.3(DMD):c.2622+11C>G
|
|
|
NM_004006.3(DMD):c.2622+11C>T
|
|
|
NM_004006.3(DMD):c.2622+12T>G
|
|
|
NM_004006.3(DMD):c.2622+13T>A
|
|
|
NM_004006.3(DMD):c.2622+16C>T
|
|
|
NM_004006.3(DMD):c.2622+20C>T
|
|
|
NM_004006.3(DMD):c.2622+9C>A
|
rs375399258
|
|
NM_004006.3(DMD):c.2623-13C>T
|
|
|
NM_004006.3(DMD):c.2623-14A>C
|
|
|
NM_004006.3(DMD):c.2623-16A>C
|
|
|
NM_004006.3(DMD):c.2623-16A>G
|
rs763945709
|
|
NM_004006.3(DMD):c.2623-17C>T
|
rs2148584931
|
|
NM_004006.3(DMD):c.2623-18C>T
|
|
|
NM_004006.3(DMD):c.2625T>C (p.Asp875=)
|
|
|
NM_004006.3(DMD):c.2637G>T (p.Arg879=)
|
rs886044268
|
|
NM_004006.3(DMD):c.2638C>T (p.Leu880=)
|
rs886044269
|
|
NM_004006.3(DMD):c.264+10A>G
|
|
|
NM_004006.3(DMD):c.264+10A>T
|
rs1489424257
|
|
NM_004006.3(DMD):c.264+12C>T
|
|
|
NM_004006.3(DMD):c.264+13C>G
|
|
|
NM_004006.3(DMD):c.264+17A>G
|
|
|
NM_004006.3(DMD):c.264+17A>T
|
|
|
NM_004006.3(DMD):c.264+18C>T
|
|
|
NM_004006.3(DMD):c.264+20A>G
|
|
|
NM_004006.3(DMD):c.264+20A>T
|
|
|
NM_004006.3(DMD):c.264+9T>C
|
|
|
NM_004006.3(DMD):c.265-15C>A
|
|
|
NM_004006.3(DMD):c.265-17A>G
|
|
|
NM_004006.3(DMD):c.265-29_265-15del
|
|
|
NM_004006.3(DMD):c.265-5A>C
|
|
|
NM_004006.3(DMD):c.265-6dup
|
|
|
NM_004006.3(DMD):c.265-7T>C
|
rs768511179
|
|
NM_004006.3(DMD):c.265-9_265-6del
|
rs780278315
|
|
NM_004006.3(DMD):c.2665C>A (p.Arg889=)
|
rs1060502639
|
|
NM_004006.3(DMD):c.2667A>G (p.Arg889=)
|
rs759593799
|
|
NM_004006.3(DMD):c.2668T>C (p.Leu890=)
|
rs1346550111
|
|
NM_004006.3(DMD):c.2689C>T (p.Leu897=)
|
|
|
NM_004006.3(DMD):c.2694A>C (p.Lys898Asn)
|
|
|
NM_004006.3(DMD):c.2694A>G (p.Lys898=)
|
rs754244555
|
|
NM_004006.3(DMD):c.2703A>G (p.Gly901=)
|
|
|
NM_004006.3(DMD):c.2703A>T (p.Gly901=)
|
|
|
NM_004006.3(DMD):c.2710C>A (p.Pro904Thr)
|
|
|
NM_004006.3(DMD):c.2712C>A (p.Pro904=)
|
|
|
NM_004006.3(DMD):c.2717T>C (p.Phe906Ser)
|
|
|
NM_004006.3(DMD):c.2717T>G (p.Phe906Cys)
|
rs375557173
|
|
NM_004006.3(DMD):c.2719C>T (p.Leu907=)
|
|
|
NM_004006.3(DMD):c.2721G>T (p.Leu907=)
|
rs2148583396
|
|
NM_004006.3(DMD):c.2723A>T (p.Asp908Val)
|
|
|
NM_004006.3(DMD):c.2724T>C (p.Asp908=)
|
|
|
NM_004006.3(DMD):c.2733T>C (p.Phe911=)
|
|
|
NM_004006.3(DMD):c.2734G>C (p.Val912Leu)
|
|
|
NM_004006.3(DMD):c.2739C>T (p.Ala913=)
|
|
|
NM_004006.3(DMD):c.273A>G (p.Leu91=)
|
|
|
NM_004006.3(DMD):c.2744C>A (p.Thr915Lys)
|
|
|
NM_004006.3(DMD):c.2745A>G (p.Thr915=)
|
rs149922633
|
|
NM_004006.3(DMD):c.2762T>C (p.Val921Ala)
|
|
|
NM_004006.3(DMD):c.2763C>G (p.Val921=)
|
rs1388980111
|
|
NM_004006.3(DMD):c.2763C>T (p.Val921=)
|
|
|
NM_004006.3(DMD):c.2769T>C (p.Ser923=)
|
rs2148582859
|
|
NM_004006.3(DMD):c.2772T>C (p.Asp924=)
|
rs2148582843
|
|
NM_004006.3(DMD):c.2775G>A (p.Val925=)
|
|
|
NM_004006.3(DMD):c.2775G>T (p.Val925=)
|
|
|
NM_004006.3(DMD):c.2778G>A (p.Gln926=)
|
rs2148582779
|
|
NM_004006.3(DMD):c.2794C>T (p.Leu932=)
|
|
|
NM_004006.3(DMD):c.279T>C (p.Asn93=)
|
|
|
NM_004006.3(DMD):c.2803+13C>G
|
|
|
NM_004006.3(DMD):c.2803+13C>T
|
|
|
NM_004006.3(DMD):c.2803+15dup
|
|
|
NM_004006.3(DMD):c.2803+17A>T
|
|
|
NM_004006.3(DMD):c.2803+19A>G
|
|
|
NM_004006.3(DMD):c.2803+7A>T
|
|
|
NM_004006.3(DMD):c.2804-10T>G
|
|
|
NM_004006.3(DMD):c.2804-12C>A
|
|
|
NM_004006.3(DMD):c.2804-17T>C
|
|
|
NM_004006.3(DMD):c.2804-4A>G
|
|
|
NM_004006.3(DMD):c.2804-6A>T
|
|
|
NM_004006.3(DMD):c.2804-7G>C
|
rs1346576933
|
|
NM_004006.3(DMD):c.2804-8T>C
|
rs2148486222
|
|
NM_004006.3(DMD):c.2811C>T (p.Asp937=)
|
rs2148486072
|
|
NM_004006.3(DMD):c.2812A>C (p.Thr938Pro)
|
|
|
NM_004006.3(DMD):c.2814T>A (p.Thr938=)
|
rs2148486027
|
|
NM_004006.3(DMD):c.2815T>C (p.Leu939=)
|
rs1603634302
|
|
NM_004006.3(DMD):c.2820A>G (p.Pro940=)
|
|
|
NM_004006.3(DMD):c.2826G>A (p.Met942Ile)
|
|
|
NM_004006.3(DMD):c.2829C>T (p.Arg943=)
|
|
|
NM_004006.3(DMD):c.2850C>T (p.Ala950=)
|
rs2148485549
|
|
NM_004006.3(DMD):c.2859A>G (p.Thr953=)
|
|
|
NM_004006.3(DMD):c.2874A>G (p.Ser958=)
|
rs2148485342
|
|
NM_004006.3(DMD):c.2886C>T (p.Leu962=)
|
|
|
NM_004006.3(DMD):c.2889C>A (p.Ser963=)
|
|
|
NM_004006.3(DMD):c.2889C>T (p.Ser963=)
|
rs943720115
|
|
NM_004006.3(DMD):c.2895T>A (p.Pro965=)
|
|
|
NM_004006.3(DMD):c.2904T>C (p.Ser968=)
|
|
|
NM_004006.3(DMD):c.2907C>T (p.Val969=)
|
|
|
NM_004006.3(DMD):c.2910C>G (p.Thr970=)
|
|
|
NM_004006.3(DMD):c.2913C>T (p.Asp971=)
|
|
|
NM_004006.3(DMD):c.2916T>C (p.Tyr972=)
|
|
|
NM_004006.3(DMD):c.2922C>T (p.Ile974=)
|
|
|
NM_004006.3(DMD):c.2928G>A (p.Glu976=)
|
rs2148484778
|
|
NM_004006.3(DMD):c.2940G>A (p.Gly980=)
|
|
|
NM_004006.3(DMD):c.2949+10T>C
|
|
|
NM_004006.3(DMD):c.2949+14T>G
|
|
|
NM_004006.3(DMD):c.2949+15G>C
|
|
|
NM_004006.3(DMD):c.2949+17A>G
|
|
|
NM_004006.3(DMD):c.2949+18T>C
|
|
|
NM_004006.3(DMD):c.2949+18T>G
|
|
|
NM_004006.3(DMD):c.2949+7G>A
|
|
|
NM_004006.3(DMD):c.2949+8A>T
|
rs2148484431
|
|
NM_004006.3(DMD):c.2949+9A>G
|
rs2148484405
|
|
NM_004006.3(DMD):c.2950-17A>T
|
|
|
NM_004006.3(DMD):c.2950-19T>G
|
|
|
NM_004006.3(DMD):c.2950-4T>G
|
rs1285970429
|
|
NM_004006.3(DMD):c.2950-6T>C
|
|
|
NM_004006.3(DMD):c.2950-7T>G
|
|
|
NM_004006.3(DMD):c.2950-9G>T
|
rs772822759
|
|
NM_004006.3(DMD):c.2964T>C (p.Ser988=)
|
|
|
NM_004006.3(DMD):c.2965C>T (p.Leu989=)
|
|
|
NM_004006.3(DMD):c.2967G>A (p.Leu989=)
|
rs760097427
|
|
NM_004006.3(DMD):c.2976A>G (p.Gln992=)
|
rs2148460554
|
|
NM_004006.3(DMD):c.2979A>G (p.Gln993=)
|
|
|
NM_004006.3(DMD):c.2997C>A (p.Leu999=)
|
|
|
NM_004006.3(DMD):c.2997C>G (p.Leu999=)
|
|
|
NM_004006.3(DMD):c.3006T>C (p.Thr1002=)
|
|
|
NM_004006.3(DMD):c.3006T>G (p.Thr1002=)
|
|
|
NM_004006.3(DMD):c.3009G>A (p.Val1003=)
|
|
|
NM_004006.3(DMD):c.3009G>T (p.Val1003=)
|
rs2148460337
|
|
NM_004006.3(DMD):c.3015G>T (p.Glu1005Asp)
|
|
|
NM_004006.3(DMD):c.3027A>G (p.Lys1009=)
|
|
|
NM_004006.3(DMD):c.3030G>C (p.Ala1010=)
|
rs72468666
|
|
NM_004006.3(DMD):c.3030G>T (p.Ala1010=)
|
|
|
NM_004006.3(DMD):c.3036T>C (p.Ser1012=)
|
|
|
NM_004006.3(DMD):c.303T>C (p.Asp101=)
|
rs2148850314
|
|
NM_004006.3(DMD):c.3042T>C (p.Ile1014=)
|
|
|
NM_004006.3(DMD):c.3046C>A (p.Arg1016=)
|
rs199808421
|
|
NM_004006.3(DMD):c.3048G>A (p.Arg1016=)
|
rs2148459815
|
|
NM_004006.3(DMD):c.3048G>T (p.Arg1016=)
|
|
|
NM_004006.3(DMD):c.3063A>G (p.Glu1021=)
|
rs2148459708
|
|
NM_004006.3(DMD):c.3066T>C (p.Phe1022=)
|
rs2040297276
|
|
NM_004006.3(DMD):c.3072A>G (p.Glu1024=)
|
|
|
NM_004006.3(DMD):c.3081A>G (p.Gly1027=)
|
|
|
NM_004006.3(DMD):c.3083G>A (p.Arg1028His)
|
|
|
NM_004006.3(DMD):c.3093G>A (p.Lys1031=)
|
rs1220406312
|
|
NM_004006.3(DMD):c.3095T>C (p.Leu1032Pro)
|
|
|
NM_004006.3(DMD):c.3096C>T (p.Leu1032=)
|
rs770148717
|
|
NM_004006.3(DMD):c.31+11A>T
|
|
|
NM_004006.3(DMD):c.31+19A>G
|
|
|
NM_004006.3(DMD):c.31+8C>T
|
|
|
NM_004006.3(DMD):c.3105G>A (p.Gln1035=)
|
rs2040292349
|
|
NM_004006.3(DMD):c.3108G>C (p.Leu1036=)
|
rs907460960
|
|
NM_004006.3(DMD):c.3108G>T (p.Leu1036=)
|
|
|
NM_004006.3(DMD):c.311A>T (p.His104Leu)
|
rs2148850239
|
|
NM_004006.3(DMD):c.3120T>C (p.Cys1040=)
|
|
|
NM_004006.3(DMD):c.3127C>T (p.Leu1043=)
|
|
|
NM_004006.3(DMD):c.3129A>G (p.Leu1043=)
|
rs1603634201
|
|
NM_004006.3(DMD):c.3135G>A (p.Glu1045=)
|
|
|
NM_004006.3(DMD):c.3153A>T (p.Arg1051=)
|
|
|
NM_004006.3(DMD):c.3162+13T>A
|
|
|
NM_004006.3(DMD):c.3162+15T>A
|
|
|
NM_004006.3(DMD):c.3162+15T>C
|
|
|
NM_004006.3(DMD):c.3162+16A>G
|
|
|
NM_004006.3(DMD):c.3162+17C>T
|
|
|
NM_004006.3(DMD):c.3163-10C>G
|
rs2148428473
|
|
NM_004006.3(DMD):c.3163-10C>T
|
|
|
NM_004006.3(DMD):c.3163-11T>A
|
|
|
NM_004006.3(DMD):c.3163-13G>T
|
|
|
NM_004006.3(DMD):c.3163-14G>C
|
|
|
NM_004006.3(DMD):c.3163-19A>C
|
|
|
NM_004006.3(DMD):c.3177C>A (p.Thr1059=)
|
rs755632126
|
|
NM_004006.3(DMD):c.3177C>G (p.Thr1059=)
|
rs755632126
|
|
NM_004006.3(DMD):c.318G>A (p.Leu106=)
|
|
|
NM_004006.3(DMD):c.318G>C (p.Leu106=)
|
|
|
NM_004006.3(DMD):c.3195T>A (p.Ala1065=)
|
|
|
NM_004006.3(DMD):c.32-10T>G
|
|
|
NM_004006.3(DMD):c.32-17_32-10del
|
rs2147755779
|
|
NM_004006.3(DMD):c.32-7A>G
|
|
|
NM_004006.3(DMD):c.3211C>T (p.Leu1071=)
|
|
|
NM_004006.3(DMD):c.3219G>A (p.Glu1073=)
|
|
|
NM_004006.3(DMD):c.3231C>T (p.Ala1077=)
|
rs769402316
|
|
NM_004006.3(DMD):c.3243A>C (p.Ser1081=)
|
rs1745871535
|
|
NM_004006.3(DMD):c.3246A>G (p.Glu1082=)
|
rs768977119
|
|
NM_004006.3(DMD):c.3252A>G (p.Leu1084=)
|
|
|
NM_004006.3(DMD):c.3261G>A (p.Gln1087=)
|
rs2148427319
|
|
NM_004006.3(DMD):c.3267A>G (p.Lys1089=)
|
|
|
NM_004006.3(DMD):c.3276+12A>G
|
|
|
NM_004006.3(DMD):c.3276+15T>A
|
|
|
NM_004006.3(DMD):c.3276+17A>G
|
|
|
NM_004006.3(DMD):c.3276+20C>G
|
rs777689134
|
|
NM_004006.3(DMD):c.3276+20C>T
|
|
|
NM_004006.3(DMD):c.3276+7T>C
|
rs2148427067
|
|
NM_004006.3(DMD):c.3277-15G>C
|
|
|
NM_004006.3(DMD):c.3277-15G>T
|
|
|
NM_004006.3(DMD):c.3277-17T>A
|
|
|
NM_004006.3(DMD):c.3277-4T>C
|
rs1487831471
|
|
NM_004006.3(DMD):c.3277-5C>T
|
|
|
NM_004006.3(DMD):c.3277-6T>C
|
|
|
NM_004006.3(DMD):c.3277-9T>C
|
|
|
NM_004006.3(DMD):c.3282A>G (p.Leu1094=)
|
|
|
NM_004006.3(DMD):c.3309C>T (p.Pro1103=)
|
rs2148419616
|
|
NM_004006.3(DMD):c.3315A>G (p.Leu1105=)
|
rs2098390931
|
|
NM_004006.3(DMD):c.3318C>T (p.Asn1106=)
|
rs2148419432
|
|
NM_004006.3(DMD):c.3333T>C (p.Gly1111=)
|
rs2148419259
|
|
NM_004006.3(DMD):c.3336G>A (p.Gly1112=)
|
|
|
NM_004006.3(DMD):c.333T>A (p.Ile111=)
|
rs138909301
|
|
NM_004006.3(DMD):c.3351T>C (p.Asn1117=)
|
rs2148419029
|
|
NM_004006.3(DMD):c.3356C>G (p.Ala1119Gly)
|
|
|
NM_004006.3(DMD):c.3372T>A (p.Ala1124=)
|
rs2148418794
|
|
NM_004006.3(DMD):c.3393C>G (p.Leu1131=)
|
|
|
NM_004006.3(DMD):c.339T>C (p.Asn113=)
|
|
|
NM_004006.3(DMD):c.3417T>C (p.Asp1139=)
|
rs1557369377
|
|
NM_004006.3(DMD):c.3420C>T (p.His1140=)
|
rs1431223068
|
|
NM_004006.3(DMD):c.3426C>T (p.Cys1142=)
|
rs2148418171
|
|
NM_004006.3(DMD):c.3429A>G (p.Gln1143=)
|
rs2148418096
|
|
NM_004006.3(DMD):c.3432+13T>G
|
|
|
NM_004006.3(DMD):c.3432+14C>G
|
|
|
NM_004006.3(DMD):c.3432+16T>C
|
|
|
NM_004006.3(DMD):c.3432+16T>G
|
|
|
NM_004006.3(DMD):c.3432+18C>T
|
|
|
NM_004006.3(DMD):c.3432+5A>G
|
|
|
NM_004006.3(DMD):c.3432+8C>G
|
rs781003275
|
|
NM_004006.3(DMD):c.3433-11T>C
|
|
|
NM_004006.3(DMD):c.3433-12G>C
|
|
|
NM_004006.3(DMD):c.3433-16G>C
|
|
|
NM_004006.3(DMD):c.3433-19T>C
|
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
NM_004006.3(DMD):c.3433-7G>A
|
rs2098349613
|
|
NM_004006.3(DMD):c.3433-9T>C
|
rs2148350001
|
|
NM_004006.3(DMD):c.3438T>C (p.Tyr1146=)
|
|
|
NM_004006.3(DMD):c.3441C>T (p.Ala1147=)
|
|
|
NM_004006.3(DMD):c.3447G>A (p.Lys1149=)
|
|
|
NM_004006.3(DMD):c.3456G>A (p.Leu1152=)
|
|
|
NM_004006.3(DMD):c.345C>T (p.Ile115=)
|
rs2148850018
|
|
NM_004006.3(DMD):c.3464G>T (p.Gly1155Val)
|
|
|
NM_004006.3(DMD):c.3468G>A (p.Leu1156=)
|
|
|
NM_004006.3(DMD):c.3477T>A (p.Thr1159=)
|
|
|
NM_004006.3(DMD):c.3477T>C (p.Thr1159=)
|
|
|
NM_004006.3(DMD):c.3483C>T (p.Ser1161=)
|
rs2148349398
|
|
NM_004006.3(DMD):c.3486C>T (p.Leu1162=)
|
|
|
NM_004006.3(DMD):c.3489G>C (p.Gln1163His)
|
|
|
NM_004006.3(DMD):c.3498A>T (p.Leu1166=)
|
|
|
NM_004006.3(DMD):c.3511G>A (p.Glu1171Lys)
|
|
|
NM_004006.3(DMD):c.3513A>G (p.Glu1171=)
|
rs566704655
|
|
NM_004006.3(DMD):c.3522A>G (p.Thr1174=)
|
|
|
NM_004006.3(DMD):c.3534A>G (p.Glu1178=)
|
|
|
NM_004006.3(DMD):c.3537G>A (p.Glu1179=)
|
rs1603633863
|
|
NM_004006.3(DMD):c.3546G>A (p.Glu1182=)
|
rs1603633862
|
|
NM_004006.3(DMD):c.3552T>A (p.Asp1184Glu)
|
|
|
NM_004006.3(DMD):c.3560A>G (p.Tyr1187Cys)
|
|
|
NM_004006.3(DMD):c.3567T>C (p.Thr1189=)
|
rs370685748
|
|
NM_004006.3(DMD):c.357+10C>T
|
|
|
NM_004006.3(DMD):c.357+13A>G
|
|
|
NM_004006.3(DMD):c.357+13A>T
|
|
|
NM_004006.3(DMD):c.357+14T>C
|
|
|
NM_004006.3(DMD):c.357+17A>T
|
|
|
NM_004006.3(DMD):c.357+18T>A
|
|
|
NM_004006.3(DMD):c.357+20G>C
|
|
|
NM_004006.3(DMD):c.357+7A>G
|
rs886043456
|
|
NM_004006.3(DMD):c.3570A>C (p.Pro1190=)
|
|
|
NM_004006.3(DMD):c.358-13T>C
|
|
|
NM_004006.3(DMD):c.358-4G>A
|
|
|
NM_004006.3(DMD):c.358-8A>C
|
|
|
NM_004006.3(DMD):c.358-9C>T
|
|
|
NM_004006.3(DMD):c.3585A>G (p.Lys1195=)
|
|
|
NM_004006.3(DMD):c.3588A>G (p.Ala1196=)
|
|
|
NM_004006.3(DMD):c.3603+10A>G
|
|
|
NM_004006.3(DMD):c.3603+10_3603+11insAG
|
|
|
NM_004006.3(DMD):c.3603+10_3603+11insG
|
|
|
NM_004006.3(DMD):c.3603+12_3603+13insG
|
|
|
NM_004006.3(DMD):c.3603+12_3603+13insT
|
|
|
NM_004006.3(DMD):c.3603+13A>T
|
|
|
NM_004006.3(DMD):c.3603+14A>G
|
|
|
NM_004006.3(DMD):c.3603+15A>G
|
|
|
NM_004006.3(DMD):c.3603+15A>T
|
|
|
NM_004006.3(DMD):c.3603+16G>A
|
|
|
NM_004006.3(DMD):c.3603+16dup
|
|
|
NM_004006.3(DMD):c.3603+17A>G
|
|
|
NM_004006.3(DMD):c.3603+19A>C
|
|
|
NM_004006.3(DMD):c.3603+20A>T
|
|
|
NM_004006.3(DMD):c.3603+3_3603+4dup
|
rs5902031
|
|
NM_004006.3(DMD):c.3603+7A>G
|
rs886044663
|
|
NM_004006.3(DMD):c.3603+8_3603+9insC
|
rs2148347843
|
|
NM_004006.3(DMD):c.3603+9_3603+10insG
|
|
|
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)
|
rs1265370991
|
|
NM_004006.3(DMD):c.3604-13C>A
|
|
|
NM_004006.3(DMD):c.3604-13C>G
|
rs903393566
|
|
NM_004006.3(DMD):c.3604-17C>T
|
|
|
NM_004006.3(DMD):c.360C>T (p.Val120=)
|
|
|
NM_004006.3(DMD):c.3642G>C (p.Val1214=)
|
rs2148288770
|
|
NM_004006.3(DMD):c.3654T>G (p.Thr1218=)
|
|
|
NM_004006.3(DMD):c.3656A>C (p.Glu1219Ala)
|
|
|
NM_004006.3(DMD):c.3669T>C (p.Ser1223=)
|
rs2148288459
|
|
NM_004006.3(DMD):c.3675A>T (p.Ile1225=)
|
|
|
NM_004006.3(DMD):c.3678T>C (p.Ala1226=)
|
|
|
NM_004006.3(DMD):c.3678T>G (p.Ala1226=)
|
rs767458058
|
|
NM_004006.3(DMD):c.3693A>G (p.Val1231=)
|
|
|
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3696A>G (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3702G>A (p.Glu1234=)
|
|
|
NM_004006.3(DMD):c.3711A>G (p.Lys1237=)
|
|
|
NM_004006.3(DMD):c.3720T>G (p.Leu1240=)
|
|
|
NM_004006.3(DMD):c.3735C>T (p.Thr1245=)
|
|
|
NM_004006.3(DMD):c.3741C>T (p.Tyr1247=)
|
rs2148287624
|
|
NM_004006.3(DMD):c.3759G>A (p.Arg1253=)
|
|
|
NM_004006.3(DMD):c.3765T>C (p.Asn1255=)
|
|
|
NM_004006.3(DMD):c.3786+14C>G
|
|
|
NM_004006.3(DMD):c.3786+15T>C
|
|
|
NM_004006.3(DMD):c.3786+18G>T
|
|
|
NM_004006.3(DMD):c.3786+20C>T
|
|
|
NM_004006.3(DMD):c.3787-13A>G
|
|
|
NM_004006.3(DMD):c.3787-14T>C
|
|
|
NM_004006.3(DMD):c.3787-15A>G
|
|
|
NM_004006.3(DMD):c.3787-16T>C
|
|
|
NM_004006.3(DMD):c.3787-19A>G
|
|
|
NM_004006.3(DMD):c.3787-5C>G
|
rs2148223054
|
|
NM_004006.3(DMD):c.3787-6_3787-3del
|
rs2148223023
|
|
NM_004006.3(DMD):c.3787-7T>C
|
rs2148223081
|
|
NM_004006.3(DMD):c.3787-8T>C
|
|
|
NM_004006.3(DMD):c.3787-9C>A
|
|
|
NM_004006.3(DMD):c.3787-9C>T
|
rs2148223106
|
|
NM_004006.3(DMD):c.3792T>C (p.Val1264=)
|
rs2148222947
|
|
NM_004006.3(DMD):c.3798A>C (p.Ala1266=)
|
|
|
NM_004006.3(DMD):c.3810G>A (p.Glu1270=)
|
|
|
NM_004006.3(DMD):c.3816G>A (p.Leu1272=)
|
rs760733415
|
|
NM_004006.3(DMD):c.3819A>G (p.Ser1273=)
|
rs2098280574
|
|
NM_004006.3(DMD):c.3825G>A (p.Leu1275=)
|
rs1379237787
|
|
NM_004006.3(DMD):c.3844C>T (p.Leu1282=)
|
rs1603633540
|
|
NM_004006.3(DMD):c.3855A>T (p.Val1285=)
|
|
|
NM_004006.3(DMD):c.3857A>T (p.Glu1286Val)
|
|
|
NM_004006.3(DMD):c.3867T>G (p.Leu1289=)
|
|
|
NM_004006.3(DMD):c.3873C>A (p.Thr1291=)
|
rs2148221895
|
|
NM_004006.3(DMD):c.3876T>G (p.Thr1292=)
|
rs1211843034
|
|
NM_004006.3(DMD):c.3879A>G (p.Glu1293=)
|
|
|
NM_004006.3(DMD):c.3891C>A (p.Gly1297=)
|
rs758317261
|
|
NM_004006.3(DMD):c.3900G>A (p.Glu1300=)
|
rs2148221514
|
|
NM_004006.3(DMD):c.3912G>A (p.Glu1304=)
|
rs764748376
|
|
NM_004006.3(DMD):c.3914T>C (p.Val1305Ala)
|
|
|
NM_004006.3(DMD):c.3916C>T (p.Leu1306=)
|
rs1251778900
|
|
NM_004006.3(DMD):c.391T>C (p.Leu131=)
|
rs2148807603
|
|
NM_004006.3(DMD):c.3921+14T>C
|
|
|
NM_004006.3(DMD):c.3921+18C>A
|
|
|
NM_004006.3(DMD):c.3921+18C>G
|
rs760035056
|
|
NM_004006.3(DMD):c.3921+8G>T
|
|
|
NM_004006.3(DMD):c.3922-10T>C
|
|
|
NM_004006.3(DMD):c.3922-14C>G
|
|
|
NM_004006.3(DMD):c.3922-14C>T
|
|
|
NM_004006.3(DMD):c.3924A>G (p.Ser1308=)
|
|
|
NM_004006.3(DMD):c.3924A>T (p.Ser1308=)
|
rs1557357591
|
|
NM_004006.3(DMD):c.3927T>G (p.Leu1309=)
|
|
|
NM_004006.3(DMD):c.3930A>G (p.Glu1310=)
|
rs2148194694
|
|
NM_004006.3(DMD):c.3942A>G (p.Arg1314=)
|
rs2098269367
|
|
NM_004006.3(DMD):c.3957C>T (p.Asn1319=)
|
|
|
NM_004006.3(DMD):c.3967A>T (p.Ile1323Phe)
|
rs770016783
|
|
NM_004006.3(DMD):c.3987C>A (p.Thr1329=)
|
|
|
NM_004006.3(DMD):c.3988C>T (p.Leu1330=)
|
rs1557357523
|
|
NM_004006.3(DMD):c.3996T>C (p.Asp1332=)
|
|
|
NM_004006.3(DMD):c.3999C>A (p.Gly1333=)
|
rs140759792
|
|
NM_004006.3(DMD):c.4019T>C (p.Ile1340Thr)
|
|
|
NM_004006.3(DMD):c.4020C>G (p.Ile1340Met)
|
|
|
NM_004006.3(DMD):c.4026G>A (p.Glu1342=)
|
|
|
NM_004006.3(DMD):c.4038A>G (p.Thr1346=)
|
|
|
NM_004006.3(DMD):c.4049G>T (p.Arg1350Leu)
|
|
|
NM_004006.3(DMD):c.4056G>A (p.Arg1352=)
|
|
|
NM_004006.3(DMD):c.405C>T (p.Asn135=)
|
rs2148807361
|
|
NM_004006.3(DMD):c.4062A>G (p.Leu1354=)
|
rs2148193023
|
|
NM_004006.3(DMD):c.4071+11A>G
|
|
|
NM_004006.3(DMD):c.4071+18A>C
|
rs2148192779
|
|
NM_004006.3(DMD):c.4071+18A>T
|
|
|
NM_004006.3(DMD):c.4071+8G>A
|
rs2148192833
|
|
NM_004006.3(DMD):c.4072-10T>C
|
rs2147936852
|
|
NM_004006.3(DMD):c.4072-11C>T
|
rs748683533
|
|
NM_004006.3(DMD):c.4072-15A>T
|
|
|
NM_004006.3(DMD):c.4072-18C>T
|
|
|
NM_004006.3(DMD):c.4072-19T>C
|
|
|
NM_004006.3(DMD):c.4072-4T>C
|
rs755064178
|
|
NM_004006.3(DMD):c.4072-6T>A
|
|
|
NM_004006.3(DMD):c.4074T>C (p.Ala1358=)
|
rs1603632897
|
|
NM_004006.3(DMD):c.4077A>G (p.Val1359=)
|
|
|
NM_004006.3(DMD):c.4077A>T (p.Val1359=)
|
|
|
NM_004006.3(DMD):c.4089G>A (p.Lys1363=)
|
rs956187688
|
|
NM_004006.3(DMD):c.408T>C (p.Ser136=)
|
|
|
NM_004006.3(DMD):c.4090T>C (p.Leu1364=)
|
rs1252905257
|
|
NM_004006.3(DMD):c.4095T>C (p.Leu1365=)
|
|
|
NM_004006.3(DMD):c.4116C>T (p.Ala1372=)
|
|
|
NM_004006.3(DMD):c.4119G>A (p.Gln1373=)
|
|
|
NM_004006.3(DMD):c.4122G>A (p.Glu1374=)
|
rs1368774604
|
|
NM_004006.3(DMD):c.4127A>C (p.Glu1376Ala)
|
rs2098143155
|
|
NM_004006.3(DMD):c.4128A>G (p.Glu1376=)
|
|
|
NM_004006.3(DMD):c.4134C>T (p.Ser1378=)
|
rs2147935655
|
|
NM_004006.3(DMD):c.4146C>T (p.Ile1382=)
|
rs1428423169
|
|
NM_004006.3(DMD):c.4149G>A (p.Gln1383=)
|
|
|
NM_004006.3(DMD):c.4152G>A (p.Glu1384=)
|
|
|
NM_004006.3(DMD):c.4155C>T (p.Ser1385=)
|
|
|
NM_004006.3(DMD):c.4158C>G (p.Leu1386=)
|
|
|
NM_004006.3(DMD):c.4158C>T (p.Leu1386=)
|
rs780038701
|
|
NM_004006.3(DMD):c.4161A>C (p.Thr1387=)
|
|
|
NM_004006.3(DMD):c.4170C>T (p.Asp1390=)
|
rs886043687
|
|
NM_004006.3(DMD):c.4173G>A (p.Lys1391=)
|
rs1342943875
|
|
NM_004006.3(DMD):c.4177T>C (p.Leu1393=)
|
|
|
NM_004006.3(DMD):c.4188T>C (p.Tyr1396=)
|
|
|
NM_004006.3(DMD):c.418C>G (p.Leu140Val)
|
|
|
NM_004006.3(DMD):c.4197C>T (p.Asp1399=)
|
rs1285677282
|
|
NM_004006.3(DMD):c.4200G>A (p.Lys1400=)
|
rs1018427863
|
|
NM_004006.3(DMD):c.4203G>A (p.Val1401=)
|
rs2147934487
|
|
NM_004006.3(DMD):c.4206C>A (p.Asp1402Glu)
|
rs766668051
|
|
NM_004006.3(DMD):c.4209A>G (p.Ala1403=)
|
|
|
NM_004006.3(DMD):c.420C>G (p.Leu140=)
|
rs2077780083
|
|
NM_004006.3(DMD):c.4221T>A (p.Pro1407=)
|
rs2147934210
|
|
NM_004006.3(DMD):c.4221T>C (p.Pro1407=)
|
rs2147934210
|
|
NM_004006.3(DMD):c.4230C>T (p.Ala1410=)
|
rs1375731794
|
|
NM_004006.3(DMD):c.4233+12T>A
|
|
|
NM_004006.3(DMD):c.4233+14G>T
|
rs777029422
|
|
NM_004006.3(DMD):c.4233+19C>G
|
|
|
NM_004006.3(DMD):c.4233+20A>T
|
|
|
NM_004006.3(DMD):c.4233+9A>C
|
|
|
NM_004006.3(DMD):c.4234-10C>T
|
|
|
NM_004006.3(DMD):c.4234-10del
|
rs2147621961
|
|
NM_004006.3(DMD):c.4234-6C>T
|
|
|
NM_004006.3(DMD):c.423G>A (p.Leu141=)
|
rs2148807117
|
|
NM_004006.3(DMD):c.4248T>C (p.Asp1416=)
|
rs374513637
|
|
NM_004006.3(DMD):c.4263G>A (p.Glu1421=)
|
rs2097991306
|
|
NM_004006.3(DMD):c.4266C>T (p.Ile1422=)
|
rs2147621228
|
|
NM_004006.3(DMD):c.426C>T (p.Ser142=)
|
|
|
NM_004006.3(DMD):c.4272A>G (p.Leu1424=)
|
|
|
NM_004006.3(DMD):c.4284G>A (p.Lys1428=)
|
rs2147620893
|
|
NM_004006.3(DMD):c.4296G>A (p.Gln1432=)
|
rs747262903
|
|
NM_004006.3(DMD):c.4305G>A (p.Glu1435=)
|
rs2147620275
|
|
NM_004006.3(DMD):c.4310C>T (p.Ala1437Val)
|
|
|
NM_004006.3(DMD):c.4311C>G (p.Ala1437=)
|
rs1410304028
|
|
NM_004006.3(DMD):c.4311C>T (p.Ala1437=)
|
rs1410304028
|
|
NM_004006.3(DMD):c.4317A>G (p.Arg1439=)
|
|
|
NM_004006.3(DMD):c.4323G>A (p.Leu1441=)
|
|
|
NM_004006.3(DMD):c.4331T>C (p.Ile1444Thr)
|
|
|
NM_004006.3(DMD):c.4335T>C (p.Asp1445=)
|
|
|
NM_004006.3(DMD):c.4344+14C>T
|
|
|
NM_004006.3(DMD):c.4344+16G>T
|
|
|
NM_004006.3(DMD):c.4344+16_4344+18del
|
rs2147619097
|
|
NM_004006.3(DMD):c.4344+8T>C
|
|
|
NM_004006.3(DMD):c.4345-14C>T
|
rs2147614274
|
|
NM_004006.3(DMD):c.4345-15A>G
|
|
|
NM_004006.3(DMD):c.4345-15A>T
|
|
|
NM_004006.3(DMD):c.4345-16T>C
|
|
|
NM_004006.3(DMD):c.4345-5del
|
|
|
NM_004006.3(DMD):c.4345-6T>C
|
|
|
NM_004006.3(DMD):c.4351T>C (p.Leu1451=)
|
|
|
NM_004006.3(DMD):c.4359T>C (p.Asp1453=)
|
rs753410642
|
|
NM_004006.3(DMD):c.4362C>T (p.Val1454=)
|
|
|
NM_004006.3(DMD):c.4374T>C (p.Phe1458=)
|
|
|
NM_004006.3(DMD):c.4409G>A (p.Arg1470His)
|
rs752129019
|
|
NM_004006.3(DMD):c.4411C>T (p.Leu1471=)
|
|
|
NM_004006.3(DMD):c.4413A>T (p.Leu1471=)
|
|
|
NM_004006.3(DMD):c.4418A>C (p.Glu1473Ala)
|
|
|
NM_004006.3(DMD):c.441A>G (p.Ser147=)
|
|
|
NM_004006.3(DMD):c.445C>T (p.Arg149Cys)
|
rs774139970
|
|
NM_004006.3(DMD):c.4462T>C (p.Leu1488=)
|
rs2147611527
|
|
NM_004006.3(DMD):c.4467A>G (p.Glu1489=)
|
|
|
NM_004006.3(DMD):c.447T>C (p.Arg149=)
|
rs2077777455
|
|
NM_004006.3(DMD):c.4488A>G (p.Glu1496=)
|
rs2147611028
|
|
NM_004006.3(DMD):c.4500A>G (p.Ser1500=)
|
|
|
NM_004006.3(DMD):c.4504C>T (p.Leu1502=)
|
rs1603632308
|
|
NM_004006.3(DMD):c.4512T>C (p.His1504=)
|
|
|
NM_004006.3(DMD):c.4518+12T>C
|
|
|
NM_004006.3(DMD):c.4518+19A>G
|
|
|
NM_004006.3(DMD):c.4519-15T>C
|
|
|
NM_004006.3(DMD):c.4519-19del
|
|
|
NM_004006.3(DMD):c.4519-5C>A
|
|
|
NM_004006.3(DMD):c.4521C>T (p.Asn1507=)
|
rs2147560055
|
|
NM_004006.3(DMD):c.4536G>A (p.Leu1512=)
|
rs2147559704
|
|
NM_004006.3(DMD):c.4536G>T (p.Leu1512=)
|
rs2147559704
|
|
NM_004006.3(DMD):c.4539T>C (p.Ser1513=)
|
|
|
NM_004006.3(DMD):c.4550C>T (p.Ser1517Phe)
|
|
|
NM_004006.3(DMD):c.4581T>A (p.Arg1527=)
|
|
|
NM_004006.3(DMD):c.459G>A (p.Gln153=)
|
|
|
NM_004006.3(DMD):c.4614C>T (p.Pro1538=)
|
rs2147558333
|
|
NM_004006.3(DMD):c.4617A>G (p.Lys1539=)
|
|
|
NM_004006.3(DMD):c.462T>C (p.Val154=)
|
|
|
NM_004006.3(DMD):c.4635A>T (p.Val1545=)
|
rs2147557809
|
|
NM_004006.3(DMD):c.4638A>C (p.Thr1546=)
|
|
|
NM_004006.3(DMD):c.4640C>T (p.Ala1547Val)
|
|
|
NM_004006.3(DMD):c.4644G>A (p.Leu1548=)
|
rs2097958166
|
|
NM_004006.3(DMD):c.4648T>C (p.Leu1550=)
|
rs2147557581
|
|
NM_004006.3(DMD):c.465T>C (p.Asn155=)
|
rs2148806561
|
|
NM_004006.3(DMD):c.4668A>G (p.Gly1556=)
|
|
|
NM_004006.3(DMD):c.4671A>C (p.Ala1557=)
|
rs1603632244
|
|
NM_004006.3(DMD):c.4674+10T>G
|
rs1488532734
|
|
NM_004006.3(DMD):c.4674+14G>A
|
|
|
NM_004006.3(DMD):c.4674+17A>T
|
|
|
NM_004006.3(DMD):c.4674+18C>G
|
|
|
NM_004006.3(DMD):c.4674+19C>G
|
|
|
NM_004006.3(DMD):c.4674+7G>T
|
|
|
NM_004006.3(DMD):c.4674+9A>G
|
rs2147556976
|
|
NM_004006.3(DMD):c.4675-10T>C
|
rs2147473556
|
|
NM_004006.3(DMD):c.4675-14A>G
|
|
|
NM_004006.3(DMD):c.4675-17A>T
|
|
|
NM_004006.3(DMD):c.4675-18C>A
|
|
|
NM_004006.3(DMD):c.4675-19T>C
|
|
|
NM_004006.3(DMD):c.4675-5T>C
|
|
|
NM_004006.3(DMD):c.4675-6T>G
|
|
|
NM_004006.3(DMD):c.4675-8C>A
|
rs1304106121
|
|
NM_004006.3(DMD):c.4675-8C>G
|
|
|
NM_004006.3(DMD):c.4675-9T>C
|
|
|
NM_004006.3(DMD):c.4689G>A (p.Lys1563=)
|
rs2147472946
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
NM_004006.3(DMD):c.4700A>C (p.Glu1567Ala)
|
|
|
NM_004006.3(DMD):c.4707C>T (p.Cys1569=)
|
|
|
NM_004006.3(DMD):c.4716G>A (p.Leu1572=)
|
rs2147472301
|
|
NM_004006.3(DMD):c.4722T>G (p.Arg1574=)
|
|
|
NM_004006.3(DMD):c.4725G>A (p.Lys1575=)
|
|
|
NM_004006.3(DMD):c.4729C>A (p.Arg1577=)
|
|
|
NM_004006.3(DMD):c.4734G>A (p.Lys1578=)
|
rs1603632116
|
|
NM_004006.3(DMD):c.4743T>A (p.Asn1581Lys)
|
|
|
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)
|
rs398123965
|
|
NM_004006.3(DMD):c.4747T>C (p.Leu1583=)
|
rs1060504673
|
|
NM_004006.3(DMD):c.474C>T (p.Asn158=)
|
rs1324314201
|
|
NM_004006.3(DMD):c.4761G>T (p.Leu1587=)
|
rs2147471303
|
|
NM_004006.3(DMD):c.4770A>G (p.Thr1590=)
|
rs2147471069
|
|
NM_004006.3(DMD):c.477C>T (p.Phe159=)
|
|
|
NM_004006.3(DMD):c.4780T>C (p.Leu1594=)
|
rs1359144760
|
|
NM_004006.3(DMD):c.4789A>C (p.Arg1597=)
|
rs1333017696
|
|
NM_004006.3(DMD):c.4794A>T (p.Ser1598=)
|
|
|
NM_004006.3(DMD):c.479C>A (p.Thr160Asn)
|
rs748752465
|
|
NM_004006.3(DMD):c.4821G>A (p.Leu1607=)
|
|
|
NM_004006.3(DMD):c.4830A>G (p.Glu1610=)
|
rs757114307
|
|
NM_004006.3(DMD):c.483C>A (p.Thr161=)
|
rs1210192846
|
|
NM_004006.3(DMD):c.483C>T (p.Thr161=)
|
rs1210192846
|
|
NM_004006.3(DMD):c.4845+10A>T
|
|
|
NM_004006.3(DMD):c.4845+12A>G
|
|
|
NM_004006.3(DMD):c.4845+16C>A
|
|
|
NM_004006.3(DMD):c.4845+16C>T
|
|
|
NM_004006.3(DMD):c.4845+8C>T
|
rs886043459
|
|
NM_004006.3(DMD):c.4845+8del
|
|
|
NM_004006.3(DMD):c.4846-10C>T
|
rs2147261612
|
|
NM_004006.3(DMD):c.4846-11C>G
|
|
|
NM_004006.3(DMD):c.4846-11C>T
|
rs2097850349
|
|
NM_004006.3(DMD):c.4846-16G>A
|
rs1603631758
|
|
NM_004006.3(DMD):c.4846-19A>G
|
|
|
NM_004006.3(DMD):c.4846-5C>A
|
rs1557305776
|
|
NM_004006.3(DMD):c.4846-5C>T
|
rs1557305776
|
|
NM_004006.3(DMD):c.4846-6T>C
|
|
|
NM_004006.3(DMD):c.4860G>A (p.Glu1620=)
|
rs2147261352
|
|
NM_004006.3(DMD):c.4878G>A (p.Val1626=)
|
rs61733574
|
|
NM_004006.3(DMD):c.4881C>T (p.His1627=)
|
rs886043184
|
|
NM_004006.3(DMD):c.4896A>C (p.Thr1632=)
|
rs2147260790
|
|
NM_004006.3(DMD):c.4899G>A (p.Glu1633=)
|
rs886044407
|
|
NM_004006.3(DMD):c.4902A>C (p.Val1634=)
|
rs772376020
|
|
NM_004006.3(DMD):c.4902A>G (p.Val1634=)
|
|
|
NM_004006.3(DMD):c.4905A>G (p.Gly1635=)
|
rs2147260581
|
|
NM_004006.3(DMD):c.4911C>G (p.Ala1637=)
|
|
|
NM_004006.3(DMD):c.4911C>T (p.Ala1637=)
|
|
|
NM_004006.3(DMD):c.4917A>G (p.Lys1639=)
|
|
|
NM_004006.3(DMD):c.4920A>C (p.Thr1640=)
|
rs2147260232
|
|
NM_004006.3(DMD):c.4929C>T (p.Gly1643=)
|
|
|
NM_004006.3(DMD):c.4941G>A (p.Thr1647=)
|
rs750090479
|
|
NM_004006.3(DMD):c.4942T>C (p.Leu1648=)
|
rs138472027
|
|
NM_004006.3(DMD):c.4942T>G (p.Leu1648Val)
|
rs138472027
|
|
NM_004006.3(DMD):c.4945G>T (p.Val1649Leu)
|
rs1300066468
|
|
NM_004006.3(DMD):c.4947G>A (p.Val1649=)
|
rs2147259756
|
|
NM_004006.3(DMD):c.4986T>C (p.Ala1662=)
|
rs2147259262
|
|
NM_004006.3(DMD):c.498C>A (p.Gly166=)
|
rs1603437199
|
|
NM_004006.3(DMD):c.4995C>G (p.Ser1665=)
|
|
|
NM_004006.3(DMD):c.4996C>A (p.Arg1666=)
|
|
|
NM_004006.3(DMD):c.4997G>A (p.Arg1666Gln)
|
|
|
NM_004006.3(DMD):c.499C>T (p.Leu167=)
|
rs1033016117
|
|
NM_004006.3(DMD):c.5001A>T (p.Ala1667=)
|
|
|
NM_004006.3(DMD):c.501G>C (p.Leu167=)
|
|
|
NM_004006.3(DMD):c.5025+11A>T
|
|
|
NM_004006.3(DMD):c.5025+16A>T
|
rs757909242
|
|
NM_004006.3(DMD):c.5025+20G>C
|
|
|
NM_004006.3(DMD):c.5031C>T (p.Tyr1677=)
|
|
|
NM_004006.3(DMD):c.5058G>T (p.Gln1686His)
|
|
|
NM_004006.3(DMD):c.505T>C (p.Leu169=)
|
rs2148806109
|
|
NM_004006.3(DMD):c.5064G>T (p.Val1688=)
|
rs886044345
|
|
NM_004006.3(DMD):c.5070C>T (p.His1690=)
|
rs780080912
|
|
NM_004006.3(DMD):c.5073C>A (p.Ile1691=)
|
rs2147253838
|
|
NM_004006.3(DMD):c.507G>A (p.Leu169=)
|
|
|
NM_004006.3(DMD):c.5085C>T (p.Ile1695=)
|
|
|
NM_004006.3(DMD):c.5094T>C (p.Ala1698=)
|
|
|
NM_004006.3(DMD):c.5100A>C (p.Thr1700=)
|
|
|
NM_004006.3(DMD):c.5100A>G (p.Thr1700=)
|
rs2097848089
|
|
NM_004006.3(DMD):c.5112A>G (p.Glu1704=)
|
rs2147253098
|
|
NM_004006.3(DMD):c.5115A>C (p.Ser1705=)
|
rs2147252987
|
|
NM_004006.3(DMD):c.5115A>G (p.Ser1705=)
|
rs2147252987
|
|
NM_004006.3(DMD):c.5121A>G (p.Lys1707=)
|
|
|
NM_004006.3(DMD):c.5139A>G (p.Lys1713=)
|
rs773674283
|
|
NM_004006.3(DMD):c.513T>A (p.Ala171=)
|
|
|
NM_004006.3(DMD):c.5145C>T (p.Asp1715=)
|
rs1170784861
|
|
NM_004006.3(DMD):c.5154+11A>G
|
rs2097847804
|
|
NM_004006.3(DMD):c.5154+17G>C
|
|
|
NM_004006.3(DMD):c.5155-15G>A
|
|
|
NM_004006.3(DMD):c.5155-8G>A
|
rs1367385862
|
|
NM_004006.3(DMD):c.5155-9G>C
|
rs2147235476
|
|
NM_004006.3(DMD):c.5166A>T (p.Ala1722=)
|
rs2147235177
|
|
NM_004006.3(DMD):c.5169A>G (p.Glu1723=)
|
rs2147235096
|
|
NM_004006.3(DMD):c.516C>T (p.Leu172=)
|
rs1442327438
|
|
NM_004006.3(DMD):c.5184C>G (p.Arg1728=)
|
|
|
NM_004006.3(DMD):c.5184C>T (p.Arg1728=)
|
|
|
NM_004006.3(DMD):c.5187A>G (p.Pro1729=)
|
rs1037540075
|
|
NM_004006.3(DMD):c.5196C>T (p.Asp1732=)
|
rs2147234471
|
|
NM_004006.3(DMD):c.519C>A (p.Ile173=)
|
|
|
NM_004006.3(DMD):c.5214A>G (p.Ala1738=)
|
|
|
NM_004006.3(DMD):c.5217A>G (p.Ala1739=)
|
|
|
NM_004006.3(DMD):c.5223G>A (p.Leu1741=)
|
rs2097842045
|
|
NM_004006.3(DMD):c.5232C>T (p.Asn1744=)
|
rs2147233789
|
|
NM_004006.3(DMD):c.5234_5235delinsAT (p.Arg1745His)
|
rs2147233685
|
|
NM_004006.3(DMD):c.5238T>C (p.Gly1746=)
|
rs2147233588
|
|
NM_004006.3(DMD):c.5244C>T (p.His1748=)
|
rs2097841950
|
|
NM_004006.3(DMD):c.5253A>G (p.Lys1751=)
|
rs1557303579
|
|
NM_004006.3(DMD):c.525T>C (p.Ser175=)
|
rs113776167
|
|
NM_004006.3(DMD):c.5262G>A (p.Glu1754=)
|
rs2147233325
|
|
NM_004006.3(DMD):c.5289A>T (p.Arg1763=)
|
rs2147232790
|
|
NM_004006.3(DMD):c.528T>C (p.His176=)
|
|
|
NM_004006.3(DMD):c.5295A>C (p.Ala1765=)
|
|
|
NM_004006.3(DMD):c.5298C>G (p.Ala1766=)
|
rs2147232614
|
|
NM_004006.3(DMD):c.5298C>T (p.Ala1766=)
|
rs2147232614
|
|
NM_004006.3(DMD):c.530+12A>C
|
|
|
NM_004006.3(DMD):c.530+13C>T
|
|
|
NM_004006.3(DMD):c.530+18A>G
|
|
|
NM_004006.3(DMD):c.530+7_530+9del
|
rs750507979
|
|
NM_004006.3(DMD):c.530+8dup
|
|
|
NM_004006.3(DMD):c.5304A>G (p.Ser1768=)
|
|
|
NM_004006.3(DMD):c.5307C>G (p.His1769Gln)
|
|
|
NM_004006.3(DMD):c.5307C>T (p.His1769=)
|
|
|
NM_004006.3(DMD):c.531-10T>C
|
|
|
NM_004006.3(DMD):c.531-11A>G
|
|
|
NM_004006.3(DMD):c.531-11_531-6del
|
rs758404687
|
|
NM_004006.3(DMD):c.531-17ATGTGT[3]
|
rs758404687
|
|
NM_004006.3(DMD):c.531-19G>A
|
|
|
NM_004006.3(DMD):c.531-19_531-12del
|
rs777913319
|
|
NM_004006.3(DMD):c.531-19_531-6del
|
rs1461325519
|
|
NM_004006.3(DMD):c.531-23GT[4]
|
|
|
NM_004006.3(DMD):c.531-23_531-18del
|
|
|
NM_004006.3(DMD):c.531-25_531-20del
|
|
|
NM_004006.3(DMD):c.531-7_531-6del
|
rs2148751971
|
|
NM_004006.3(DMD):c.5313T>G (p.Ile1771Met)
|
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
NM_004006.3(DMD):c.5325+12T>C
|
|
|
NM_004006.3(DMD):c.5325+15T>C
|
|
|
NM_004006.3(DMD):c.5325+1740A>T
|
|
|
NM_004006.3(DMD):c.5325+1741G>A
|
|
|
NM_004006.3(DMD):c.5325+1742A>G
|
|
|
NM_004006.3(DMD):c.5325+1742A>T
|
|
|
NM_004006.3(DMD):c.5325+1744A>G
|
|
|
NM_004006.3(DMD):c.5325+1747A>G
|
rs2147210257
|
|
NM_004006.3(DMD):c.5325+1752A>T
|
|
|
NM_004006.3(DMD):c.5325+1754G>C
|
|
|
NM_004006.3(DMD):c.5325+1755G>T
|
|
|
NM_004006.3(DMD):c.5325+17C>T
|
|
|
NM_004006.3(DMD):c.5325+7A>G
|
|
|
NM_004006.3(DMD):c.5325+8G>A
|
|
|
NM_004006.3(DMD):c.5325+8G>C
|
|
|
NM_004006.3(DMD):c.5325+9A>T
|
rs2147232195
|
|
NM_004006.3(DMD):c.5326-10T>C
|
rs2147066383
|
|
NM_004006.3(DMD):c.5326-11_5326-7dup
|
rs398123988
|
|
NM_004006.3(DMD):c.5326-12C>G
|
|
|
NM_004006.3(DMD):c.5326-16C>A
|
|
|
NM_004006.3(DMD):c.5326-19G>T
|
|
|
NM_004006.3(DMD):c.5326-8T>C
|
rs2147066352
|
|
NM_004006.3(DMD):c.5326-9T>A
|
|
|
NM_004006.3(DMD):c.5328C>T (p.Ala1776=)
|
|
|
NM_004006.3(DMD):c.5331C>G (p.Ser1777=)
|
rs2147065939
|
|
NM_004006.3(DMD):c.5331C>T (p.Ser1777=)
|
rs2147065939
|
|
NM_004006.3(DMD):c.5337T>A (p.Pro1779=)
|
|
|
NM_004006.3(DMD):c.5337T>G (p.Pro1779=)
|
|
|
NM_004006.3(DMD):c.5343G>A (p.Lys1781=)
|
|
|
NM_004006.3(DMD):c.5352G>A (p.Glu1784=)
|
rs2147065495
|
|
NM_004006.3(DMD):c.5355G>A (p.Gln1785=)
|
|
|
NM_004006.3(DMD):c.5358T>C (p.Phe1786=)
|
rs886042125
|
|
NM_004006.3(DMD):c.5369T>C (p.Ile1790Thr)
|
|
|
NM_004006.3(DMD):c.5377T>C (p.Leu1793=)
|
rs1603631366
|
|
NM_004006.3(DMD):c.537C>T (p.Asp179=)
|
rs116605349
|
|
NM_004006.3(DMD):c.5382T>G (p.Leu1794=)
|
|
|
NM_004006.3(DMD):c.538C>T (p.Leu180=)
|
|
|
NM_004006.3(DMD):c.5391G>A (p.Leu1797=)
|
|
|
NM_004006.3(DMD):c.5397T>C (p.Ala1799=)
|
rs2147064571
|
|
NM_004006.3(DMD):c.540A>G (p.Leu180=)
|
|
|
NM_004006.3(DMD):c.5412G>A (p.Gly1804=)
|
rs2147064255
|
|
NM_004006.3(DMD):c.5413G>A (p.Val1805Met)
|
|
|
NM_004006.3(DMD):c.5433C>T (p.Asp1811=)
|
|
|
NM_004006.3(DMD):c.5438A>G (p.Asn1813Ser)
|
|
|
NM_004006.3(DMD):c.5448+14G>C
|
|
|
NM_004006.3(DMD):c.5448+15A>G
|
|
|
NM_004006.3(DMD):c.5448+18A>G
|
|
|
NM_004006.3(DMD):c.5448+19A>T
|
|
|
NM_004006.3(DMD):c.5448+7T>A
|
|
|
NM_004006.3(DMD):c.5448+7T>C
|
rs1557294172
|
|
NM_004006.3(DMD):c.5448+8G>A
|
|
|
NM_004006.3(DMD):c.5448+8G>T
|
rs1414223055
|
|
NM_004006.3(DMD):c.5448+9G>C
|
|
|
NM_004006.3(DMD):c.5448+9G>T
|
|
|
NM_004006.3(DMD):c.5449-12_5449-10del
|
rs745728411
|
|
NM_004006.3(DMD):c.5449-13T>C
|
rs758383323
|
|
NM_004006.3(DMD):c.5449-18C>T
|
|
|
NM_004006.3(DMD):c.5449-20T>C
|
|
|
NM_004006.3(DMD):c.5449-6G>A
|
rs2147033511
|
|
NM_004006.3(DMD):c.5449-6G>T
|
|
|
NM_004006.3(DMD):c.5449-7dup
|
rs1557292841
|
|
NM_004006.3(DMD):c.5449-8T>C
|
rs2147033589
|
|
NM_004006.3(DMD):c.5463G>A (p.Glu1821=)
|
rs1026536923
|
|
NM_004006.3(DMD):c.5464G>T (p.Gly1822Cys)
|
rs766746479
|
|
NM_004006.3(DMD):c.5477A>C (p.Glu1826Ala)
|
|
|
NM_004006.3(DMD):c.5479T>C (p.Leu1827=)
|
|
|
NM_004006.3(DMD):c.5481G>A (p.Leu1827=)
|
rs794727612
|
|
NM_004006.3(DMD):c.5493A>T (p.Gly1831=)
|
rs1322285225
|
|
NM_004006.3(DMD):c.5499C>T (p.Asn1833=)
|
rs1603631321
|
|
NM_004006.3(DMD):c.5535G>A (p.Glu1845=)
|
rs1307920930
|
|
NM_004006.3(DMD):c.5544G>A (p.Lys1848=)
|
rs369623931
|
|
NM_004006.3(DMD):c.5557C>T (p.Leu1853=)
|
|
|
NM_004006.3(DMD):c.5559G>A (p.Leu1853=)
|
|
|
NM_004006.3(DMD):c.5565G>T (p.Gln1855His)
|
|
|
NM_004006.3(DMD):c.5568A>C (p.Thr1856=)
|
|
|
NM_004006.3(DMD):c.5570A>G (p.Lys1857Arg)
|
|
|
NM_004006.3(DMD):c.5583C>G (p.Leu1861=)
|
|
|
NM_004006.3(DMD):c.5583C>T (p.Leu1861=)
|
rs775837149
|
|
NM_004006.3(DMD):c.5586+13A>C
|
|
|
NM_004006.3(DMD):c.5586+16T>G
|
|
|
NM_004006.3(DMD):c.5586+19T>C
|
|
|
NM_004006.3(DMD):c.5586+20A>G
|
rs1450070379
|
|
NM_004006.3(DMD):c.5586+8A>G
|
rs2147030103
|
|
NM_004006.3(DMD):c.5587-10C>T
|
|
|
NM_004006.3(DMD):c.5587-12C>T
|
|
|
NM_004006.3(DMD):c.5587-13G>T
|
rs374560628
|
|
NM_004006.3(DMD):c.5587-15C>T
|
|
|
NM_004006.3(DMD):c.5587-16T>A
|
|
|
NM_004006.3(DMD):c.5587-20_5587-18del
|
rs1360421317
|
|
NM_004006.3(DMD):c.5587-5A>C
|
|
|
NM_004006.3(DMD):c.5587-6G>T
|
rs2146993001
|
|
NM_004006.3(DMD):c.5587-8A>G
|
rs1287724254
|
|
NM_004006.3(DMD):c.5587-9C>T
|
|
|
NM_004006.3(DMD):c.558G>A (p.Val186=)
|
|
|
NM_004006.3(DMD):c.5605A>C (p.Arg1869=)
|
rs2146992518
|
|
NM_004006.3(DMD):c.5613G>A (p.Lys1871=)
|
rs759824486
|
|
NM_004006.3(DMD):c.5617C>T (p.Leu1873=)
|
rs769637913
|
|
NM_004006.3(DMD):c.5619A>G (p.Leu1873=)
|
rs1603631246
|
|
NM_004006.3(DMD):c.5625T>C (p.Ile1875=)
|
|
|
NM_004006.3(DMD):c.5643G>A (p.Gln1881=)
|
rs2146991812
|
|
NM_004006.3(DMD):c.5646C>T (p.Tyr1882=)
|
|
|
NM_004006.3(DMD):c.564C>T (p.Cys188=)
|
|
|
NM_004006.3(DMD):c.5661T>C (p.Asp1887=)
|
|
|
NM_004006.3(DMD):c.5667C>G (p.Leu1889=)
|
|
|
NM_004006.3(DMD):c.5667C>T (p.Leu1889=)
|
rs2146991307
|
|
NM_004006.3(DMD):c.5688T>C (p.Ile1896=)
|
rs1557291068
|
|
NM_004006.3(DMD):c.5691A>G (p.Glu1897=)
|
|
|
NM_004006.3(DMD):c.5697A>G (p.Lys1899=)
|
rs2097753067
|
|
NM_004006.3(DMD):c.5709A>T (p.Leu1903=)
|
rs2146990296
|
|
NM_004006.3(DMD):c.5712T>G (p.Pro1904=)
|
|
|
NM_004006.3(DMD):c.5733A>G (p.Lys1911=)
|
|
|
NM_004006.3(DMD):c.5736A>T (p.Ile1912=)
|
rs2146989560
|
|
NM_004006.3(DMD):c.5739+13T>A
|
|
|
NM_004006.3(DMD):c.5739+18T>A
|
rs2146989246
|
|
NM_004006.3(DMD):c.5739+20T>C
|
|
|
NM_004006.3(DMD):c.5739+9_5739+11del
|
|
|
NM_004006.3(DMD):c.5739+9_5739+12del
|
|
|
NM_004006.3(DMD):c.5740-12T>C
|
|
|
NM_004006.3(DMD):c.5740-14G>A
|
|
|
NM_004006.3(DMD):c.5740-17T>C
|
|
|
NM_004006.3(DMD):c.5740-19dup
|
|
|
NM_004006.3(DMD):c.5740-20G>A
|
|
|
NM_004006.3(DMD):c.5740-20G>C
|
|
|
NM_004006.3(DMD):c.5740-8C>T
|
|
|
NM_004006.3(DMD):c.5749C>A (p.Arg1917=)
|
|
|
NM_004006.3(DMD):c.5754A>G (p.Glu1918=)
|
rs2148813606
|
|
NM_004006.3(DMD):c.5755T>C (p.Leu1919=)
|
|
|
NM_004006.3(DMD):c.5763G>A (p.Lys1921=)
|
rs2148813540
|
|
NM_004006.3(DMD):c.5772G>A (p.Glu1924=)
|
|
|
NM_004006.3(DMD):c.5775G>A (p.Glu1925=)
|
rs1800272
|
|
NM_004006.3(DMD):c.5781T>C (p.Asn1927=)
|
rs2148813420
|
|
NM_004006.3(DMD):c.5784A>T (p.Ala1928=)
|
|
|
NM_004006.3(DMD):c.57A>G (p.Lys19=)
|
|
|
NM_004006.3(DMD):c.5814G>A (p.Glu1938=)
|
rs2148813225
|
|
NM_004006.3(DMD):c.5826A>C (p.Ala1942=)
|
rs1569558909
|
|
NM_004006.3(DMD):c.582A>G (p.Gln194=)
|
rs1603432096
|
|
NM_004006.3(DMD):c.5832A>G (p.Ala1944=)
|
rs2148813072
|
|
NM_004006.3(DMD):c.5850C>A (p.Ile1950=)
|
|
|
NM_004006.3(DMD):c.5850C>T (p.Ile1950=)
|
|
|
NM_004006.3(DMD):c.5856C>T (p.Leu1952=)
|
|
|
NM_004006.3(DMD):c.5862G>A (p.Lys1954=)
|
|
|
NM_004006.3(DMD):c.5869C>A (p.Arg1957=)
|
|
|
NM_004006.3(DMD):c.5870G>A (p.Arg1957Gln)
|
|
|
NM_004006.3(DMD):c.5880G>A (p.Glu1960=)
|
|
|
NM_004006.3(DMD):c.5901A>G (p.Arg1967=)
|
|
|
NM_004006.3(DMD):c.5904A>G (p.Arg1968=)
|
|
|
NM_004006.3(DMD):c.5907C>A (p.Leu1969=)
|
|
|
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser)
|
rs951731570
|
|
NM_004006.3(DMD):c.5916A>C (p.Ala1972=)
|
|
|
NM_004006.3(DMD):c.5916A>G (p.Ala1972=)
|
rs2148812449
|
|
NM_004006.3(DMD):c.591A>G (p.Glu197=)
|
rs2148751296
|
|
NM_004006.3(DMD):c.5922+11A>T
|
|
|
NM_004006.3(DMD):c.5922+15G>T
|
|
|
NM_004006.3(DMD):c.5922+16C>G
|
|
|
NM_004006.3(DMD):c.5922+18A>G
|
|
|
NM_004006.3(DMD):c.5922+19A>C
|
|
|
NM_004006.3(DMD):c.5922+19A>T
|
rs2148812274
|
|
NM_004006.3(DMD):c.5922+20C>T
|
rs1201169887
|
|
NM_004006.3(DMD):c.5923-15G>A
|
|
|
NM_004006.3(DMD):c.5923-18T>G
|
|
|
NM_004006.3(DMD):c.5923-20C>A
|
|
|
NM_004006.3(DMD):c.5923-4C>T
|
|
|
NM_004006.3(DMD):c.5923-5A>G
|
|
|
NM_004006.3(DMD):c.5923-8T>C
|
rs2148596590
|
|
NM_004006.3(DMD):c.5923-9C>G
|
|
|
NM_004006.3(DMD):c.5928T>A (p.Thr1976=)
|
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
NM_004006.3(DMD):c.5943G>T (p.Thr1981=)
|
rs757497844
|
|
NM_004006.3(DMD):c.594T>C (p.His198=)
|
|
|
NM_004006.3(DMD):c.5950G>A (p.Val1984Met)
|
|
|
NM_004006.3(DMD):c.5953A>G (p.Met1985Val)
|
|
|
NM_004006.3(DMD):c.5973G>A (p.Leu1991=)
|
|
|
NM_004006.3(DMD):c.5983T>G (p.Tyr1995Asp)
|
rs751445942
|
|
NM_004006.3(DMD):c.5991T>G (p.Pro1997=)
|
rs1005302771
|
|
NM_004006.3(DMD):c.6006T>G (p.Thr2002=)
|
|
|
NM_004006.3(DMD):c.6012C>A (p.Ile2004=)
|
rs2148595676
|
|
NM_004006.3(DMD):c.6014C>G (p.Thr2005Ser)
|
|
|
NM_004006.3(DMD):c.6018T>C (p.His2006=)
|
rs2148595575
|
|
NM_004006.3(DMD):c.6030C>A (p.Ala2010=)
|
|
|
NM_004006.3(DMD):c.6033A>C (p.Leu2011=)
|
|
|
NM_004006.3(DMD):c.6034T>C (p.Leu2012=)
|
|
|
NM_004006.3(DMD):c.6036A>G (p.Leu2012=)
|
|
|
NM_004006.3(DMD):c.6042G>A (p.Val2014=)
|
|
|
NM_004006.3(DMD):c.6075T>C (p.Ala2025=)
|
|
|
NM_004006.3(DMD):c.6081C>T (p.Asp2027=)
|
|
|
NM_004006.3(DMD):c.6091C>G (p.Leu2031Val)
|
|
|
NM_004006.3(DMD):c.6105G>A (p.Glu2035=)
|
|
|
NM_004006.3(DMD):c.610A>C (p.Arg204=)
|
rs2148751035
|
|
NM_004006.3(DMD):c.6117+10A>G
|
rs2148594683
|
|
NM_004006.3(DMD):c.6117+11A>C
|
|
|
NM_004006.3(DMD):c.6117+12G>A
|
|
|
NM_004006.3(DMD):c.6117+13C>T
|
|
|
NM_004006.3(DMD):c.6117+18T>C
|
|
|
NM_004006.3(DMD):c.6117+18T>G
|
|
|
NM_004006.3(DMD):c.6117+19C>A
|
|
|
NM_004006.3(DMD):c.6117+19C>T
|
|
|
NM_004006.3(DMD):c.6117+20A>C
|
|
|
NM_004006.3(DMD):c.6117+20A>G
|
|
|
NM_004006.3(DMD):c.6117+8C>G
|
|
|
NM_004006.3(DMD):c.6117+8C>T
|
rs2148594726
|
|
NM_004006.3(DMD):c.6117+9A>G
|
|
|
NM_004006.3(DMD):c.6118-14T>A
|
|
|
NM_004006.3(DMD):c.6118-18A>T
|
|
|
NM_004006.3(DMD):c.6118-4A>G
|
rs1057522959
|
|
NM_004006.3(DMD):c.6118-9A>G
|
rs767111504
|
|
NM_004006.3(DMD):c.6120T>C (p.Asn2040=)
|
|
|
NM_004006.3(DMD):c.6147A>G (p.Ser2049=)
|
|
|
NM_004006.3(DMD):c.6153G>C (p.Arg2051=)
|
|
|
NM_004006.3(DMD):c.6159C>T (p.Asp2053=)
|
rs1603629986
|
|
NM_004006.3(DMD):c.615T>C (p.Tyr205=)
|
|
|
NM_004006.3(DMD):c.6162T>C (p.Ile2054=)
|
rs2148457585
|
|
NM_004006.3(DMD):c.6165T>C (p.Ile2055=)
|
rs2148457534
|
|
NM_004006.3(DMD):c.6174G>A (p.Lys2058=)
|
rs2148457449
|
|
NM_004006.3(DMD):c.6183A>G (p.Ala2061=)
|
rs2148457337
|
|
NM_004006.3(DMD):c.6187T>C (p.Leu2063=)
|
|
|
NM_004006.3(DMD):c.619T>C (p.Leu207=)
|
|
|
NM_004006.3(DMD):c.6202C>T (p.Pro2068Ser)
|
|
|
NM_004006.3(DMD):c.6213G>A (p.Arg2071=)
|
|
|
NM_004006.3(DMD):c.6222A>G (p.Leu2074=)
|
rs2148457008
|
|
NM_004006.3(DMD):c.6234C>T (p.Leu2078=)
|
|
|
NM_004006.3(DMD):c.624C>A (p.Gly208=)
|
rs768761464
|
|
NM_004006.3(DMD):c.624C>G (p.Gly208=)
|
|
|
NM_004006.3(DMD):c.624C>T (p.Gly208=)
|
|
|
NM_004006.3(DMD):c.6252A>G (p.Gln2084=)
|
|
|
NM_004006.3(DMD):c.6276C>T (p.Tyr2092=)
|
|
|
NM_004006.3(DMD):c.6283C>A (p.Arg2095=)
|
rs398124008
|
|
NM_004006.3(DMD):c.6290+11C>T
|
|
|
NM_004006.3(DMD):c.6290+12A>G
|
|
|
NM_004006.3(DMD):c.6290+13T>C
|
|
|
NM_004006.3(DMD):c.6290+14A>G
|
|
|
NM_004006.3(DMD):c.6290+16A>G
|
|
|
NM_004006.3(DMD):c.6290+7A>C
|
|
|
NM_004006.3(DMD):c.6290+9C>T
|
rs2148456262
|
|
NM_004006.3(DMD):c.6291-13C>T
|
rs2147866521
|
|
NM_004006.3(DMD):c.6291-14G>A
|
|
|
NM_004006.3(DMD):c.6291-18A>G
|
|
|
NM_004006.3(DMD):c.6291-20C>A
|
|
|
NM_004006.3(DMD):c.6291-20C>T
|
|
|
NM_004006.3(DMD):c.6291-4G>T
|
rs2147866438
|
|
NM_004006.3(DMD):c.6291-8A>G
|
|
|
NM_004006.3(DMD):c.6291-9T>C
|
|
|
NM_004006.3(DMD):c.6293G>A (p.Arg2098Gln)
|
|
|
NM_004006.3(DMD):c.6294A>G (p.Arg2098=)
|
|
|
NM_004006.3(DMD):c.6297T>C (p.Phe2099=)
|
rs2147866269
|
|
NM_004006.3(DMD):c.630G>C (p.Glu210Asp)
|
|
|
NM_004006.3(DMD):c.6319C>A (p.Arg2107=)
|
rs770711808
|
|
NM_004006.3(DMD):c.6324T>A (p.Arg2108=)
|
|
|
NM_004006.3(DMD):c.6333T>C (p.Tyr2111=)
|
rs2097114793
|
|
NM_004006.3(DMD):c.6336T>C (p.Asp2112=)
|
rs2097114770
|
|
NM_004006.3(DMD):c.6345A>G (p.Ile2115Met)
|
|
|
NM_004006.3(DMD):c.6375G>T (p.Gln2125His)
|
rs766781970
|
|
NM_004006.3(DMD):c.6405T>C (p.Asn2135=)
|
rs2147865207
|
|
NM_004006.3(DMD):c.6411A>G (p.Glu2137=)
|
|
|
NM_004006.3(DMD):c.6423C>T (p.Tyr2141=)
|
|
|
NM_004006.3(DMD):c.6438+15T>C
|
rs2097114348
|
|
NM_004006.3(DMD):c.6438+16G>T
|
|
|
NM_004006.3(DMD):c.6438+17T>C
|
|
|
NM_004006.3(DMD):c.6438+9_6438+10del
|
|
|
NM_004006.3(DMD):c.6439-13T>G
|
rs2150188308
|
|
NM_004006.3(DMD):c.6439-19C>A
|
|
|
NM_004006.3(DMD):c.6439-5T>C
|
rs1262558848
|
|
NM_004006.3(DMD):c.6439-9A>G
|
|
|
NM_004006.3(DMD):c.6450T>C (p.Asp2150=)
|
rs981577721
|
|
NM_004006.3(DMD):c.6453C>T (p.Gly2151=)
|
|
|
NM_004006.3(DMD):c.6468A>G (p.Gln2156=)
|
|
|
NM_004006.3(DMD):c.6471T>C (p.Thr2157=)
|
|
|
NM_004006.3(DMD):c.6483A>C (p.Thr2161=)
|
rs776054222
|
|
NM_004006.3(DMD):c.6483A>T (p.Thr2161=)
|
|
|
NM_004006.3(DMD):c.6486G>A (p.Leu2162=)
|
rs2150187894
|
|
NM_004006.3(DMD):c.649+20A>G
|
|
|
NM_004006.3(DMD):c.649+7A>C
|
|
|
NM_004006.3(DMD):c.6492A>C (p.Ala2164=)
|
rs2095370368
|
|
NM_004006.3(DMD):c.6495T>G (p.Thr2165=)
|
rs2150187797
|
|
NM_004006.3(DMD):c.650-19A>G
|
|
|
NM_004006.3(DMD):c.650-5T>C
|
|
|
NM_004006.3(DMD):c.650-7C>A
|
|
|
NM_004006.3(DMD):c.650-9T>C
|
|
|
NM_004006.3(DMD):c.6502G>C (p.Glu2168Gln)
|
|
|
NM_004006.3(DMD):c.6510T>A (p.Ile2170=)
|
rs2150187685
|
|
NM_004006.3(DMD):c.651T>C (p.Asp217=)
|
rs1556930849
|
|
NM_004006.3(DMD):c.6522A>C (p.Ser2174=)
|
rs2150187583
|
|
NM_004006.3(DMD):c.6522A>G (p.Ser2174=)
|
|
|
NM_004006.3(DMD):c.6535A>G (p.Ser2179Gly)
|
rs1361261157
|
|
NM_004006.3(DMD):c.6536G>A (p.Ser2179Asn)
|
|
|
NM_004006.3(DMD):c.6541C>T (p.Leu2181=)
|
|
|
NM_004006.3(DMD):c.6543A>G (p.Leu2181=)
|
|
|
NM_004006.3(DMD):c.6552A>G (p.Lys2184=)
|
rs1603618491
|
|
NM_004006.3(DMD):c.6573G>A (p.Arg2191=)
|
rs2150187210
|
|
NM_004006.3(DMD):c.6576G>T (p.Trp2192Cys)
|
|
|
NM_004006.3(DMD):c.6579G>A (p.Gln2193=)
|
|
|
NM_004006.3(DMD):c.657T>C (p.Asp219=)
|
|
|
NM_004006.3(DMD):c.6600A>C (p.Ser2200=)
|
rs1039612595
|
|
NM_004006.3(DMD):c.6600A>G (p.Ser2200=)
|
rs1039612595
|
|
NM_004006.3(DMD):c.6606A>G (p.Arg2202=)
|
|
|
NM_004006.3(DMD):c.660C>T (p.Thr220=)
|
rs2147607269
|
|
NM_004006.3(DMD):c.6614+12G>C
|
|
|
NM_004006.3(DMD):c.6614+15C>T
|
|
|
NM_004006.3(DMD):c.6614+18A>G
|
|
|
NM_004006.3(DMD):c.6614+20A>G
|
|
|
NM_004006.3(DMD):c.6614+7C>A
|
rs180719577
|
|
NM_004006.3(DMD):c.6615-10_6615-8del
|
|
|
NM_004006.3(DMD):c.6615-13C>T
|
|
|
NM_004006.3(DMD):c.6615-18T>G
|
|
|
NM_004006.3(DMD):c.6615-4C>G
|
|
|
NM_004006.3(DMD):c.6615-4C>T
|
rs1603615892
|
|
NM_004006.3(DMD):c.6615-5T>C
|
|
|
NM_004006.3(DMD):c.6621A>G (p.Glu2207=)
|
|
|
NM_004006.3(DMD):c.6636C>A (p.Ile2212=)
|
|
|
NM_004006.3(DMD):c.6637T>C (p.Leu2213=)
|
rs1603615889
|
|
NM_004006.3(DMD):c.663C>T (p.Thr221=)
|
rs2147607182
|
|
NM_004006.3(DMD):c.6640T>G (p.Ser2214Ala)
|
|
|
NM_004006.3(DMD):c.6642A>G (p.Ser2214=)
|
rs2150002033
|
|
NM_004006.3(DMD):c.6648T>C (p.Phe2216=)
|
rs2150002016
|
|
NM_004006.3(DMD):c.6660A>G (p.Leu2220=)
|
rs1603615887
|
|
NM_004006.3(DMD):c.6663T>C (p.Asn2221=)
|
rs2150001823
|
|
NM_004006.3(DMD):c.6666A>G (p.Glu2222=)
|
|
|
NM_004006.3(DMD):c.6672T>C (p.Val2224=)
|
|
|
NM_004006.3(DMD):c.6681G>A (p.Leu2227=)
|
|
|
NM_004006.3(DMD):c.6684G>A (p.Glu2228=)
|
|
|
NM_004006.3(DMD):c.6689C>G (p.Ala2230Gly)
|
|
|
NM_004006.3(DMD):c.6699T>C (p.Ile2233=)
|
rs2150001540
|
|
NM_004006.3(DMD):c.6704G>A (p.Ser2235Asn)
|
rs1316893006
|
|
NM_004006.3(DMD):c.6704G>C (p.Ser2235Thr)
|
rs1316893006
|
|
NM_004006.3(DMD):c.6705T>C (p.Ser2235=)
|
|
|
NM_004006.3(DMD):c.6708C>T (p.Ile2236=)
|
|
|
NM_004006.3(DMD):c.6711A>T (p.Pro2237=)
|
|
|
NM_004006.3(DMD):c.6714T>G (p.Leu2238=)
|
|
|
NM_004006.3(DMD):c.672T>C (p.Asp224=)
|
|
|
NM_004006.3(DMD):c.6732G>A (p.Gln2244=)
|
|
|
NM_004006.3(DMD):c.6736C>T (p.Leu2246=)
|
|
|
NM_004006.3(DMD):c.6738A>G (p.Leu2246=)
|
rs2150001278
|
|
NM_004006.3(DMD):c.6741A>G (p.Lys2247=)
|
rs2150001251
|
|
NM_004006.3(DMD):c.6747G>A (p.Lys2249=)
|
|
|
NM_004006.3(DMD):c.6753G>A (p.Glu2251=)
|
|
|
NM_004006.3(DMD):c.675G>A (p.Lys225=)
|
rs1603151588
|
|
NM_004006.3(DMD):c.6762+11T>C
|
|
|
NM_004006.3(DMD):c.6762+16C>G
|
|
|
NM_004006.3(DMD):c.6762+7T>A
|
|
|
NM_004006.3(DMD):c.6763-11G>C
|
|
|
NM_004006.3(DMD):c.6763-15A>G
|
|
|
NM_004006.3(DMD):c.6763-18T>C
|
|
|
NM_004006.3(DMD):c.6763-19_6763-17del
|
|
|
NM_004006.3(DMD):c.6771G>A (p.Val2257=)
|
rs2149990217
|
|
NM_004006.3(DMD):c.6774A>G (p.Glu2258=)
|
|
|
NM_004006.3(DMD):c.6786G>A (p.Leu2262=)
|
|
|
NM_004006.3(DMD):c.6801C>T (p.Leu2267=)
|
|
|
NM_004006.3(DMD):c.680C>G (p.Ser227Cys)
|
|
|
NM_004006.3(DMD):c.681C>T (p.Ser227=)
|
rs2063900887
|
|
NM_004006.3(DMD):c.6828C>A (p.Pro2276=)
|
rs72466595
|
|
NM_004006.3(DMD):c.6828C>G (p.Pro2276=)
|
|
|
NM_004006.3(DMD):c.6829G>A (p.Val2277Met)
|
|
|
NM_004006.3(DMD):c.6835G>T (p.Val2279Leu)
|
|
|
NM_004006.3(DMD):c.684C>A (p.Ile228=)
|
|
|
NM_004006.3(DMD):c.684C>T (p.Ile228=)
|
rs2147606635
|
|
NM_004006.3(DMD):c.6855A>C (p.Pro2285=)
|
rs766079487
|
|
NM_004006.3(DMD):c.6855A>G (p.Pro2285=)
|
rs766079487
|
|
NM_004006.3(DMD):c.6882G>A (p.Lys2294=)
|
rs2149989265
|
|
NM_004006.3(DMD):c.6912+10T>G
|
|
|
NM_004006.3(DMD):c.6912+13C>A
|
|
|
NM_004006.3(DMD):c.6912+16T>C
|
|
|
NM_004006.3(DMD):c.6912+17C>G
|
|
|
NM_004006.3(DMD):c.6912+17C>T
|
|
|
NM_004006.3(DMD):c.6912+20T>C
|
|
|
NM_004006.3(DMD):c.6912+7C>A
|
rs779161941
|
|
NM_004006.3(DMD):c.6912+9T>G
|
|
|
NM_004006.3(DMD):c.6913-13A>G
|
|
|
NM_004006.3(DMD):c.6915T>G (p.Val2305=)
|
|
|
NM_004006.3(DMD):c.6942A>G (p.Gly2314=)
|
rs1556962536
|
|
NM_004006.3(DMD):c.6943G>A (p.Glu2315Lys)
|
|
|
NM_004006.3(DMD):c.6963A>C (p.Lys2321Asn)
|
rs1465907696
|
|
NM_004006.3(DMD):c.6966C>T (p.Asp2322=)
|
|
|
NM_004006.3(DMD):c.6990T>C (p.Leu2330=)
|
|
|
NM_004006.3(DMD):c.6990T>G (p.Leu2330=)
|
|
|
NM_004006.3(DMD):c.6999T>A (p.Leu2333=)
|
|
|
NM_004006.3(DMD):c.6999T>C (p.Leu2333=)
|
|
|
NM_004006.3(DMD):c.69A>G (p.Lys23=)
|
|
|
NM_004006.3(DMD):c.7018C>T (p.Leu2340=)
|
rs1189846429
|
|
NM_004006.3(DMD):c.7021C>T (p.Leu2341=)
|
|
|
NM_004006.3(DMD):c.702A>T (p.Ser234=)
|
rs1350188088
|
|
NM_004006.3(DMD):c.7032A>G (p.Leu2344=)
|
rs1556962392
|
|
NM_004006.3(DMD):c.705C>T (p.Leu235=)
|
|
|
NM_004006.3(DMD):c.7065C>T (p.Asn2355=)
|
|
|
NM_004006.3(DMD):c.7074C>T (p.Asn2358=)
|
rs1556962301
|
|
NM_004006.3(DMD):c.7080A>G (p.Glu2360=)
|
rs1800274
|
|
NM_004006.3(DMD):c.7089T>C (p.Phe2363=)
|
rs770999942
|
|
NM_004006.3(DMD):c.7098+10T>A
|
|
|
NM_004006.3(DMD):c.7098+16C>T
|
|
|
NM_004006.3(DMD):c.7098+19T>C
|
rs2149679424
|
|
NM_004006.3(DMD):c.7098+9C>A
|
rs371632583
|
|
NM_004006.3(DMD):c.7098+9C>T
|
rs371632583
|
|
NM_004006.3(DMD):c.7098+9del
|
rs2093949239
|
|
NM_004006.3(DMD):c.7099-13T>A
|
|
|
NM_004006.3(DMD):c.7099-13T>C
|
|
|
NM_004006.3(DMD):c.7099-15G>T
|
|
|
NM_004006.3(DMD):c.7099-18A>G
|
|
|
NM_004006.3(DMD):c.7099-20A>G
|
|
|
NM_004006.3(DMD):c.7099-5C>A
|
rs1216599972
|
|
NM_004006.3(DMD):c.7099-6C>T
|
rs2149493531
|
|
NM_004006.3(DMD):c.7099-9T>C
|
rs1603484595
|
|
NM_004006.3(DMD):c.7113A>T (p.Ala2371=)
|
|
|
NM_004006.3(DMD):c.7128A>G (p.Gln2376=)
|
rs2149493430
|
|
NM_004006.3(DMD):c.7131G>T (p.Pro2377=)
|
|
|
NM_004006.3(DMD):c.7134T>C (p.Asp2378=)
|
|
|
NM_004006.3(DMD):c.7143G>A (p.Glu2381=)
|
|
|
NM_004006.3(DMD):c.7149G>A (p.Leu2383=)
|
|
|
NM_004006.3(DMD):c.714T>A (p.Val238=)
|
|
|
NM_004006.3(DMD):c.7170C>T (p.Tyr2390=)
|
|
|
NM_004006.3(DMD):c.717G>A (p.Leu239=)
|
|
|
NM_004006.3(DMD):c.7197G>A (p.Val2399=)
|
rs2149493157
|
|
NM_004006.3(DMD):c.7200+11A>T
|
|
|
NM_004006.3(DMD):c.7200+14C>G
|
|
|
NM_004006.3(DMD):c.7200+14C>T
|
|
|
NM_004006.3(DMD):c.7200+17T>A
|
rs777362327
|
|
NM_004006.3(DMD):c.7200+19G>A
|
|
|
NM_004006.3(DMD):c.7201-14C>T
|
rs2149424829
|
|
NM_004006.3(DMD):c.7201-19G>A
|
|
|
NM_004006.3(DMD):c.7201-4A>G
|
rs1556917126
|
|
NM_004006.3(DMD):c.7201-7G>C
|
|
|
NM_004006.3(DMD):c.720T>G (p.Pro240=)
|
rs2147605620
|
|
NM_004006.3(DMD):c.7216C>T (p.Leu2406=)
|
rs2149424704
|
|
NM_004006.3(DMD):c.7224T>G (p.Ser2408=)
|
|
|
NM_004006.3(DMD):c.7236G>A (p.Ala2412=)
|
rs149003002
|
|
NM_004006.3(DMD):c.7246T>C (p.Leu2416=)
|
rs2149424583
|
|
NM_004006.3(DMD):c.7248A>G (p.Leu2416=)
|
|
|
NM_004006.3(DMD):c.724C>G (p.Gln242Glu)
|
|
|
NM_004006.3(DMD):c.7263G>A (p.Arg2421=)
|
|
|
NM_004006.3(DMD):c.7269G>A (p.Lys2423=)
|
|
|
NM_004006.3(DMD):c.7278C>T (p.Asp2426=)
|
|
|
NM_004006.3(DMD):c.7281A>T (p.Leu2427=)
|
rs886038872
|
|
NM_004006.3(DMD):c.7290A>G (p.Gly2430=)
|
rs2092718091
|
|
NM_004006.3(DMD):c.7296C>T (p.Thr2432=)
|
|
|
NM_004006.3(DMD):c.729G>A (p.Val243=)
|
rs182730498
|
|
NM_004006.3(DMD):c.7301T>C (p.Ile2434Thr)
|
|
|
NM_004006.3(DMD):c.7302T>C (p.Ile2434=)
|
|
|
NM_004006.3(DMD):c.7309+10C>A
|
rs2092717395
|
|
NM_004006.3(DMD):c.7309+10C>T
|
rs2092717395
|
|
NM_004006.3(DMD):c.7309+7A>G
|
|
|
NM_004006.3(DMD):c.7310-12A>G
|
|
|
NM_004006.3(DMD):c.7310-20A>G
|
|
|
NM_004006.3(DMD):c.7310-4T>G
|
|
|
NM_004006.3(DMD):c.7310-5T>G
|
rs2090517382
|
|
NM_004006.3(DMD):c.7310-8T>A
|
|
|
NM_004006.3(DMD):c.7314T>G (p.Pro2438=)
|
rs1370627309
|
|
NM_004006.3(DMD):c.7320G>A (p.Gln2440=)
|
rs2149245605
|
|
NM_004006.3(DMD):c.7323T>A (p.Thr2441=)
|
|
|
NM_004006.3(DMD):c.7344T>C (p.Pro2448=)
|
|
|
NM_004006.3(DMD):c.7347G>C (p.Val2449=)
|
|
|
NM_004006.3(DMD):c.7353T>C (p.Thr2451=)
|
rs2149245425
|
|
NM_004006.3(DMD):c.735T>C (p.Ile245=)
|
|
|
NM_004006.3(DMD):c.7362T>G (p.Thr2454=)
|
|
|
NM_004006.3(DMD):c.7365C>T (p.Ala2455=)
|
rs2149245352
|
|
NM_004006.3(DMD):c.7371C>G (p.Ser2457=)
|
|
|
NM_004006.3(DMD):c.7392C>G (p.Ser2464=)
|
|
|
NM_004006.3(DMD):c.7392C>T (p.Ser2464=)
|
rs2090512704
|
|
NM_004006.3(DMD):c.7407A>C (p.Val2469=)
|
rs2149245176
|
|
NM_004006.3(DMD):c.7407A>G (p.Val2469=)
|
|
|
NM_004006.3(DMD):c.7413T>A (p.Ala2471=)
|
rs2149245165
|
|
NM_004006.3(DMD):c.741C>A (p.Ala247=)
|
|
|
NM_004006.3(DMD):c.741C>T (p.Ala247=)
|
rs2147605009
|
|
NM_004006.3(DMD):c.7431G>A (p.Arg2477=)
|
|
|
NM_004006.3(DMD):c.7440A>G (p.Thr2480=)
|
rs2149245046
|
|
NM_004006.3(DMD):c.7442A>G (p.Glu2481Gly)
|
|
|
NM_004006.3(DMD):c.7443A>G (p.Glu2481=)
|
|
|
NM_004006.3(DMD):c.7449C>A (p.Thr2483=)
|
|
|
NM_004006.3(DMD):c.744C>A (p.Ile248=)
|
rs2147604978
|
|
NM_004006.3(DMD):c.7450G>C (p.Asp2484His)
|
rs773102625
|
|
NM_004006.3(DMD):c.7458T>G (p.Leu2486=)
|
rs2149244899
|
|
NM_004006.3(DMD):c.7462C>T (p.Leu2488=)
|
rs2149244886
|
|
NM_004006.3(DMD):c.7464G>A (p.Leu2488=)
|
rs1603464003
|
|
NM_004006.3(DMD):c.7467T>G (p.Leu2489=)
|
|
|
NM_004006.3(DMD):c.7485A>G (p.Ser2495=)
|
rs1603463999
|
|
NM_004006.3(DMD):c.7491G>A (p.Arg2497=)
|
rs2149244727
|
|
NM_004006.3(DMD):c.7500G>A (p.Val2500=)
|
rs1185017453
|
|
NM_004006.3(DMD):c.7506C>T (p.Asp2502=)
|
rs2149244621
|
|
NM_004006.3(DMD):c.7509T>C (p.Leu2503=)
|
|
|
NM_004006.3(DMD):c.7515T>C (p.Asp2505=)
|
rs2149244578
|
|
NM_004006.3(DMD):c.7536G>A (p.Lys2512=)
|
|
|
NM_004006.3(DMD):c.7542+13A>T
|
|
|
NM_004006.3(DMD):c.7542+13del
|
|
|
NM_004006.3(DMD):c.7542+20A>C
|
|
|
NM_004006.3(DMD):c.7542+7G>A
|
rs398124047
|
|
NM_004006.3(DMD):c.7543-12_7543-11del
|
|
|
NM_004006.3(DMD):c.7543-16A>T
|
rs2149018824
|
|
NM_004006.3(DMD):c.7543-18G>A
|
|
|
NM_004006.3(DMD):c.7543-4A>T
|
rs2149018672
|
|
NM_004006.3(DMD):c.7543-6T>C
|
rs928060590
|
|
NM_004006.3(DMD):c.7572T>C (p.Arg2524=)
|
rs2149018476
|
|
NM_004006.3(DMD):c.7575C>G (p.Pro2525=)
|
rs1569308187
|
|
NM_004006.3(DMD):c.7602C>G (p.Ala2534=)
|
rs748309027
|
|
NM_004006.3(DMD):c.7617C>T (p.Asn2539=)
|
rs1393221231
|
|
NM_004006.3(DMD):c.7629T>A (p.Asn2543Lys)
|
|
|
NM_004006.3(DMD):c.7653G>T (p.Thr2551=)
|
|
|
NM_004006.3(DMD):c.765A>C (p.Pro255=)
|
|
|
NM_004006.3(DMD):c.765A>G (p.Pro255=)
|
|
|
NM_004006.3(DMD):c.7660+10T>C
|
|
|
NM_004006.3(DMD):c.7660+14C>G
|
|
|
NM_004006.3(DMD):c.7660+17G>C
|
|
|
NM_004006.3(DMD):c.7660+17G>T
|
|
|
NM_004006.3(DMD):c.7660+19A>G
|
|
|
NM_004006.3(DMD):c.7660+20T>C
|
|
|
NM_004006.3(DMD):c.7660+7T>C
|
|
|
NM_004006.3(DMD):c.7660+8T>G
|
|
|
NM_004006.3(DMD):c.7660+9T>G
|
rs2149017716
|
|
NM_004006.3(DMD):c.7661-11T>C
|
|
|
NM_004006.3(DMD):c.7661-4C>A
|
|
|
NM_004006.3(DMD):c.7661-5T>C
|
|
|
NM_004006.3(DMD):c.7666A>C (p.Arg2556=)
|
rs2148734353
|
|
NM_004006.3(DMD):c.7680G>A (p.Gln2560=)
|
rs2148734246
|
|
NM_004006.3(DMD):c.7701C>T (p.His2567=)
|
rs1603445347
|
|
NM_004006.3(DMD):c.7711C>A (p.Arg2571=)
|
rs757011771
|
|
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)
|
rs371588290
|
|
NM_004006.3(DMD):c.771A>G (p.Pro257=)
|
rs2147604478
|
|
NM_004006.3(DMD):c.7722G>A (p.Gln2574=)
|
rs368164231
|
|
NM_004006.3(DMD):c.7723T>C (p.Leu2575=)
|
rs2148733773
|
|
NM_004006.3(DMD):c.7741G>A (p.Asp2581Asn)
|
rs763179470
|
|
NM_004006.3(DMD):c.7752A>G (p.Gln2584=)
|
rs2148733463
|
|
NM_004006.3(DMD):c.7761A>G (p.Glu2587=)
|
|
|
NM_004006.3(DMD):c.7773A>G (p.Glu2591=)
|
|
|
NM_004006.3(DMD):c.7776T>C (p.Ala2592=)
|
|
|
NM_004006.3(DMD):c.7776T>G (p.Ala2592=)
|
rs2148733304
|
|
NM_004006.3(DMD):c.7779G>A (p.Glu2593=)
|
|
|
NM_004006.3(DMD):c.7782G>A (p.Gln2594=)
|
rs573578099
|
|
NM_004006.3(DMD):c.7788A>G (p.Leu2596=)
|
rs2082256994
|
|
NM_004006.3(DMD):c.7791A>C (p.Gly2597=)
|
rs2148733097
|
|
NM_004006.3(DMD):c.7795G>T (p.Ala2599Ser)
|
rs1569220550
|
|
NM_004006.3(DMD):c.7803C>G (p.Ala2601=)
|
rs933682011
|
|
NM_004006.3(DMD):c.7806G>A (p.Lys2602=)
|
rs2148732901
|
|
NM_004006.3(DMD):c.780G>C (p.Val260=)
|
|
|
NM_004006.3(DMD):c.7815A>G (p.Ser2605=)
|
rs2148732803
|
|
NM_004006.3(DMD):c.7815A>T (p.Ser2605=)
|
rs2148732803
|
|
NM_004006.3(DMD):c.7830C>G (p.Pro2610=)
|
|
|
NM_004006.3(DMD):c.7836A>G (p.Thr2612=)
|
rs2148732626
|
|
NM_004006.3(DMD):c.7842T>C (p.Asp2614=)
|
rs2148732569
|
|
NM_004006.3(DMD):c.7857A>G (p.Lys2619=)
|
|
|
NM_004006.3(DMD):c.7866A>G (p.Glu2622=)
|
rs2082252626
|
|
NM_004006.3(DMD):c.7872+15T>C
|
|
|
NM_004006.3(DMD):c.7872+16A>G
|
|
|
NM_004006.3(DMD):c.7873-15C>T
|
|
|
NM_004006.3(DMD):c.7873-6C>G
|
|
|
NM_004006.3(DMD):c.7873-8A>T
|
|
|
NM_004006.3(DMD):c.7881C>A (p.Ala2627=)
|
rs2148616170
|
|
NM_004006.3(DMD):c.7886A>T (p.Asp2629Val)
|
|
|
NM_004006.3(DMD):c.7891C>T (p.Arg2631Cys)
|
|
|
NM_004006.3(DMD):c.789A>G (p.Glu263=)
|
|
|
NM_004006.3(DMD):c.7908T>C (p.Asn2636=)
|
|
|
NM_004006.3(DMD):c.7911A>C (p.Val2637=)
|
|
|
NM_004006.3(DMD):c.7929G>A (p.Leu2643=)
|
rs2148615763
|
|
NM_004006.3(DMD):c.7935G>A (p.Leu2645=)
|
|
|
NM_004006.3(DMD):c.7944C>T (p.Leu2648=)
|
rs1060504675
|
|
NM_004006.3(DMD):c.7977C>A (p.Val2659=)
|
rs2148615378
|
|
NM_004006.3(DMD):c.7977C>G (p.Val2659=)
|
|
|
NM_004006.3(DMD):c.8007T>A (p.Ser2669=)
|
rs2148615112
|
|
NM_004006.3(DMD):c.8007T>C (p.Ser2669=)
|
rs2148615112
|
|
NM_004006.3(DMD):c.8027+10A>G
|
rs2148614831
|
|
NM_004006.3(DMD):c.8027+13T>C
|
rs772027445
|
|
NM_004006.3(DMD):c.8027+15A>C
|
|
|
NM_004006.3(DMD):c.8027+19C>G
|
|
|
NM_004006.3(DMD):c.8028-11G>A
|
|
|
NM_004006.3(DMD):c.8028-18A>G
|
rs2148423755
|
|
NM_004006.3(DMD):c.8028-4G>T
|
|
|
NM_004006.3(DMD):c.8028-5dup
|
|
|
NM_004006.3(DMD):c.8028-8C>A
|
|
|
NM_004006.3(DMD):c.8028-9C>T
|
|
|
NM_004006.3(DMD):c.8038C>A (p.Arg2680=)
|
rs863225011
|
|
NM_004006.3(DMD):c.8055A>G (p.Glu2685=)
|
|
|
NM_004006.3(DMD):c.805C>G (p.His269Asp)
|
|
|
NM_004006.3(DMD):c.8071C>T (p.Leu2691=)
|
rs2078925882
|
|
NM_004006.3(DMD):c.8082C>T (p.Phe2694=)
|
rs2078925076
|
|
NM_004006.3(DMD):c.8085C>A (p.Pro2695=)
|
|
|
NM_004006.3(DMD):c.8085C>G (p.Pro2695=)
|
|
|
NM_004006.3(DMD):c.8085C>T (p.Pro2695=)
|
|
|
NM_004006.3(DMD):c.8086C>T (p.Leu2696=)
|
rs2148422898
|
|
NM_004006.3(DMD):c.8106T>C (p.Leu2702=)
|
rs2078923624
|
|
NM_004006.3(DMD):c.810T>C (p.His270=)
|
rs2147603494
|
|
NM_004006.3(DMD):c.8118A>C (p.Thr2706=)
|
|
|
NM_004006.3(DMD):c.8124T>C (p.Ala2708=)
|
|
|
NM_004006.3(DMD):c.8136C>T (p.Ala2712=)
|
rs1603430183
|
|
NM_004006.3(DMD):c.8151T>C (p.Asp2717=)
|
|
|
NM_004006.3(DMD):c.8157C>T (p.Thr2719=)
|
|
|
NM_004006.3(DMD):c.8172C>T (p.Leu2724=)
|
rs886044500
|
|
NM_004006.3(DMD):c.8180A>C (p.Asp2727Ala)
|
|
|
NM_004006.3(DMD):c.8193A>C (p.Val2731=)
|
rs1603430166
|
|
NM_004006.3(DMD):c.8193A>T (p.Val2731=)
|
rs1603430166
|
|
NM_004006.3(DMD):c.8196A>G (p.Lys2732=)
|
rs2148421887
|
|
NM_004006.3(DMD):c.8198A>G (p.Glu2733Gly)
|
|
|
NM_004006.3(DMD):c.8199G>A (p.Glu2733=)
|
|
|
NM_004006.3(DMD):c.81A>G (p.Ala27=)
|
rs2147754884
|
|
NM_004006.3(DMD):c.8202G>C (p.Leu2734=)
|
|
|
NM_004006.3(DMD):c.8208A>G (p.Lys2736=)
|
rs2148421793
|
|
NM_004006.3(DMD):c.8217+10G>T
|
rs2148421561
|
|
NM_004006.3(DMD):c.8217+12A>G
|
|
|
NM_004006.3(DMD):c.8217+16C>T
|
|
|
NM_004006.3(DMD):c.8217+17C>T
|
|
|
NM_004006.3(DMD):c.8217+18G>A
|
|
|
NM_004006.3(DMD):c.8217+32103G>A
|
|
|
NM_004006.3(DMD):c.8217+8dup
|
|
|
NM_004006.3(DMD):c.8218-11C>T
|
|
|
NM_004006.3(DMD):c.8218-12G>A
|
|
|
NM_004006.3(DMD):c.8218-23TTC[2]
|
|
|
NM_004006.3(DMD):c.8218-3T>C
|
|
|
NM_004006.3(DMD):c.8218-4G>A
|
|
|
NM_004006.3(DMD):c.822T>C (p.Tyr274=)
|
|
|
NM_004006.3(DMD):c.8247A>C (p.Thr2749=)
|
rs1176596333
|
|
NM_004006.3(DMD):c.8265G>T (p.Leu2755=)
|
|
|
NM_004006.3(DMD):c.828A>G (p.Gln276=)
|
rs2063889616
|
|
NM_004006.3(DMD):c.8292A>G (p.Arg2764=)
|
rs2147176818
|
|
NM_004006.3(DMD):c.8298G>A (p.Leu2766=)
|
|
|
NM_004006.3(DMD):c.8307C>G (p.Ser2769=)
|
|
|
NM_004006.3(DMD):c.831+12A>T
|
|
|
NM_004006.3(DMD):c.831+14A>C
|
|
|
NM_004006.3(DMD):c.831+14A>G
|
|
|
NM_004006.3(DMD):c.831+16G>A
|
|
|
NM_004006.3(DMD):c.831+7T>C
|
rs2147602930
|
|
NM_004006.3(DMD):c.831+8G>A
|
rs2063888451
|
|
NM_004006.3(DMD):c.8319C>A (p.Val2773=)
|
|
|
NM_004006.3(DMD):c.832-11C>G
|
rs755144083
|
|
NM_004006.3(DMD):c.832-17C>G
|
|
|
NM_004006.3(DMD):c.832-17C>T
|
rs72470514
|
|
NM_004006.3(DMD):c.832-18_832-17delinsGA
|
rs2063783358
|
|
NM_004006.3(DMD):c.832-19C>G
|
|
|
NM_004006.3(DMD):c.832-19C>T
|
|
|
NM_004006.3(DMD):c.832-4G>A
|
rs2147583526
|
|
NM_004006.3(DMD):c.832-6C>G
|
rs910030590
|
|
NM_004006.3(DMD):c.832-8C>G
|
|
|
NM_004006.3(DMD):c.832-8C>T
|
|
|
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)
|
rs72466575
|
|
NM_004006.3(DMD):c.8334T>A (p.Arg2778=)
|
rs1556669808
|
|
NM_004006.3(DMD):c.8335T>C (p.Leu2779=)
|
|
|
NM_004006.3(DMD):c.8348A>G (p.Asn2783Ser)
|
rs760903823
|
|
NM_004006.3(DMD):c.834C>A (p.Ile278=)
|
rs2147583336
|
|
NM_004006.3(DMD):c.8350T>C (p.Phe2784Leu)
|
|
|
NM_004006.3(DMD):c.837G>T (p.Thr279=)
|
rs1800265
|
|
NM_004006.3(DMD):c.8390+11A>T
|
|
|
NM_004006.3(DMD):c.8390+12T>A
|
|
|
NM_004006.3(DMD):c.8390+12T>C
|
|
|
NM_004006.3(DMD):c.8391-10T>C
|
|
|
NM_004006.3(DMD):c.8391-12G>A
|
rs2147077034
|
|
NM_004006.3(DMD):c.8391-19C>T
|
|
|
NM_004006.3(DMD):c.8391-5T>C
|
|
|
NM_004006.3(DMD):c.8391-8T>C
|
rs2147076951
|
|
NM_004006.3(DMD):c.8391-9C>T
|
rs775338222
|
|
NM_004006.3(DMD):c.8424G>A (p.Lys2808=)
|
rs2147076254
|
|
NM_004006.3(DMD):c.8440C>T (p.Leu2814=)
|
rs2147076037
|
|
NM_004006.3(DMD):c.844C>T (p.Leu282=)
|
|
|
NM_004006.3(DMD):c.8454G>C (p.Leu2818=)
|
rs2069917714
|
|
NM_004006.3(DMD):c.8457G>C (p.Val2819=)
|
|
|
NM_004006.3(DMD):c.8473G>A (p.Asp2825Asn)
|
|
|
NM_004006.3(DMD):c.8490G>T (p.Arg2830=)
|
|
|
NM_004006.3(DMD):c.8496A>C (p.Ala2832=)
|
rs72466574
|
|
NM_004006.3(DMD):c.84A>G (p.Gln28=)
|
rs1060504676
|
|
NM_004006.3(DMD):c.8511C>T (p.Asp2837=)
|
rs2147075011
|
|
NM_004006.3(DMD):c.8517A>G (p.Pro2839=)
|
|
|
NM_004006.3(DMD):c.852G>A (p.Gln284=)
|
rs2147582808
|
|
NM_004006.3(DMD):c.8532G>A (p.Gln2844=)
|
rs887532907
|
|
NM_004006.3(DMD):c.8534A>G (p.Asn2845Ser)
|
|
|
NM_004006.3(DMD):c.8535C>T (p.Asn2845=)
|
rs1302775057
|
|
NM_004006.3(DMD):c.8541A>C (p.Val2847=)
|
rs2147074467
|
|
NM_004006.3(DMD):c.8544T>C (p.His2848=)
|
|
|
NM_004006.3(DMD):c.8547+12T>G
|
|
|
NM_004006.3(DMD):c.8547+14A>T
|
|
|
NM_004006.3(DMD):c.8547+16G>A
|
|
|
NM_004006.3(DMD):c.8547+17C>T
|
|
|
NM_004006.3(DMD):c.8547+18del
|
rs764180310
|
|
NM_004006.3(DMD):c.8548-10C>T
|
|
|
NM_004006.3(DMD):c.8548-15C>A
|
|
|
NM_004006.3(DMD):c.8548-20C>A
|
|
|
NM_004006.3(DMD):c.8548-4A>C
|
|
|
NM_004006.3(DMD):c.8548-9A>C
|
|
|
NM_004006.3(DMD):c.8571T>G (p.Thr2857=)
|
|
|
NM_004006.3(DMD):c.8577A>G (p.Glu2859=)
|
|
|
NM_004006.3(DMD):c.8580T>G (p.Pro2860=)
|
|
|
NM_004006.3(DMD):c.8601G>A (p.Glu2867=)
|
rs775638242
|
|
NM_004006.3(DMD):c.8617C>T (p.Leu2873=)
|
|
|
NM_004006.3(DMD):c.8622A>G (p.Thr2874=)
|
|
|
NM_004006.3(DMD):c.8624A>G (p.Glu2875Gly)
|
|
|
NM_004006.3(DMD):c.8625G>A (p.Glu2875=)
|
|
|
NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)
|
|
|
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
|
|
|
NM_004006.3(DMD):c.8668+12T>C
|
|
|
NM_004006.3(DMD):c.8668+14G>A
|
|
|
NM_004006.3(DMD):c.8668+15A>G
|
|
|
NM_004006.3(DMD):c.8668+16A>G
|
|
|
NM_004006.3(DMD):c.8668+17C>A
|
rs750783328
|
|
NM_004006.3(DMD):c.8668+17C>T
|
|
|
NM_004006.3(DMD):c.8668+20T>C
|
rs2149256809
|
|
NM_004006.3(DMD):c.8668+7G>A
|
|
|
NM_004006.3(DMD):c.8668+9A>G
|
rs1603225742
|
|
NM_004006.3(DMD):c.8669-15A>G
|
|
|
NM_004006.3(DMD):c.8669-8C>T
|
rs2149254433
|
|
NM_004006.3(DMD):c.8670G>A (p.Glu2890=)
|
|
|
NM_004006.3(DMD):c.8673G>A (p.Leu2891=)
|
rs1032573101
|
|
NM_004006.3(DMD):c.8673G>T (p.Leu2891=)
|
|
|
NM_004006.3(DMD):c.867T>G (p.Thr289=)
|
rs2147582365
|
|
NM_004006.3(DMD):c.8700C>G (p.Val2900=)
|
rs2149254160
|
|
NM_004006.3(DMD):c.8709T>C (p.Leu2903=)
|
|
|
NM_004006.3(DMD):c.8721G>A (p.Gln2907=)
|
rs2149253975
|
|
NM_004006.3(DMD):c.8724T>C (p.Ala2908=)
|
rs2149253951
|
|
NM_004006.3(DMD):c.8727G>A (p.Glu2909=)
|
|
|
NM_004006.3(DMD):c.8730G>A (p.Glu2910=)
|
rs1603223043
|
|
NM_004006.3(DMD):c.8733C>T (p.Val2911=)
|
|
|
NM_004006.3(DMD):c.8736T>C (p.Asn2912=)
|
rs2149253811
|
|
NM_004006.3(DMD):c.8766C>A (p.Ser2922=)
|
|
|
NM_004006.3(DMD):c.8767G>A (p.Ala2923Thr)
|
|
|
NM_004006.3(DMD):c.8781A>G (p.Arg2927=)
|
rs976735204
|
|
NM_004006.3(DMD):c.879G>A (p.Lys293=)
|
|
|
NM_004006.3(DMD):c.8820A>G (p.Gln2940=)
|
|
|
NM_004006.3(DMD):c.8823G>A (p.Glu2941=)
|
|
|
NM_004006.3(DMD):c.8841C>T (p.Asp2947=)
|
|
|
NM_004006.3(DMD):c.8844C>T (p.Leu2948=)
|
rs2149253053
|
|
NM_004006.3(DMD):c.8853C>T (p.Arg2951=)
|
rs2149252996
|
|
NM_004006.3(DMD):c.8856A>G (p.Gln2952=)
|
rs745428533
|
|
NM_004006.3(DMD):c.885A>G (p.Arg295=)
|
rs1290943376
|
|
NM_004006.3(DMD):c.8862G>A (p.Glu2954=)
|
rs1384583953
|
|
NM_004006.3(DMD):c.8868C>T (p.Ile2956=)
|
rs201123444
|
|
NM_004006.3(DMD):c.8874A>G (p.Gly2958=)
|
|
|
NM_004006.3(DMD):c.8889G>T (p.Val2963=)
|
|
|
NM_004006.3(DMD):c.888C>T (p.Phe296=)
|
rs977310228
|
|
NM_004006.3(DMD):c.8892C>T (p.Gly2964=)
|
|
|
NM_004006.3(DMD):c.8895T>C (p.Asp2965=)
|
|
|
NM_004006.3(DMD):c.8901C>T (p.Leu2967=)
|
|
|
NM_004006.3(DMD):c.8922C>T (p.His2974=)
|
|
|
NM_004006.3(DMD):c.8925C>G (p.Leu2975=)
|
rs374063420
|
|
NM_004006.3(DMD):c.8937+14C>A
|
|
|
NM_004006.3(DMD):c.8937+17T>C
|
|
|
NM_004006.3(DMD):c.8937+20T>C
|
|
|
NM_004006.3(DMD):c.8937+7T>C
|
rs2149252378
|
|
NM_004006.3(DMD):c.8937+8C>G
|
rs1057524459
|
|
NM_004006.3(DMD):c.8937+8C>T
|
|
|
NM_004006.3(DMD):c.8938-13C>A
|
|
|
NM_004006.3(DMD):c.8938-14A>C
|
|
|
NM_004006.3(DMD):c.8938-15G>C
|
|
|
NM_004006.3(DMD):c.8938-18T>A
|
|
|
NM_004006.3(DMD):c.8938-18T>G
|
|
|
NM_004006.3(DMD):c.8938-6A>G
|
rs2149076161
|
|
NM_004006.3(DMD):c.8949A>G (p.Gly2983=)
|
|
|
NM_004006.3(DMD):c.8957C>T (p.Ala2986Val)
|
|
|
NM_004006.3(DMD):c.8958G>T (p.Ala2986=)
|
rs755815057
|
|
NM_004006.3(DMD):c.8973C>G (p.Asn2991Lys)
|
|
|
NM_004006.3(DMD):c.9030A>T (p.Ser3010=)
|
|
|
NM_004006.3(DMD):c.9039C>T (p.Asn3013=)
|
rs2149075331
|
|
NM_004006.3(DMD):c.903C>T (p.Tyr301=)
|
rs2147581521
|
|
NM_004006.3(DMD):c.9048T>C (p.Thr3016=)
|
|
|
NM_004006.3(DMD):c.9060G>A (p.Leu3020=)
|
rs2149075169
|
|
NM_004006.3(DMD):c.9069A>G (p.Arg3023=)
|
|
|
NM_004006.3(DMD):c.906A>C (p.Thr302=)
|
rs1021496348
|
|
NM_004006.3(DMD):c.906A>G (p.Thr302=)
|
|
|
NM_004006.3(DMD):c.9075G>A (p.Lys3025=)
|
rs757517457
|
|
NM_004006.3(DMD):c.9084+10T>C
|
rs1405681920
|
|
NM_004006.3(DMD):c.9084+12G>A
|
|
|
NM_004006.3(DMD):c.9084+13T>C
|
|
|
NM_004006.3(DMD):c.9084+17C>T
|
|
|
NM_004006.3(DMD):c.9084+18A>G
|
|
|
NM_004006.3(DMD):c.9084+18_9084+20del
|
|
|
NM_004006.3(DMD):c.9084+19T>G
|
|
|
NM_004006.3(DMD):c.9084+9A>G
|
rs2149074899
|
|
NM_004006.3(DMD):c.9085-17T>C
|
|
|
NM_004006.3(DMD):c.9085-18C>A
|
rs1391137517
|
|
NM_004006.3(DMD):c.9085-8C>A
|
rs1055931440
|
|
NM_004006.3(DMD):c.9085-8C>T
|
|
|
NM_004006.3(DMD):c.9085-9T>C
|
|
|
NM_004006.3(DMD):c.9090C>G (p.Ala3030=)
|
|
|
NM_004006.3(DMD):c.9090C>T (p.Ala3030=)
|
rs776090499
|
|
NM_004006.3(DMD):c.9093C>A (p.Val3031=)
|
|
|
NM_004006.3(DMD):c.909G>A (p.Gln303=)
|
|
|
NM_004006.3(DMD):c.9114G>A (p.Leu3038=)
|
|
|
NM_004006.3(DMD):c.9122C>A (p.Ala3041Asp)
|
|
|
NM_004006.3(DMD):c.9126C>T (p.His3042=)
|
rs2148492049
|
|
NM_004006.3(DMD):c.9129G>A (p.Arg3043=)
|
|
|
NM_004006.3(DMD):c.912T>C (p.Ala304=)
|
|
|
NM_004006.3(DMD):c.9132C>T (p.Asp3044=)
|
rs2148492001
|
|
NM_004006.3(DMD):c.9144A>C (p.Ala3048=)
|
rs2148491824
|
|
NM_004006.3(DMD):c.9147T>C (p.Ser3049=)
|
|
|
NM_004006.3(DMD):c.9147T>G (p.Ser3049=)
|
|
|
NM_004006.3(DMD):c.9150G>A (p.Gln3050=)
|
rs1352900858
|
|
NM_004006.3(DMD):c.9163+12T>C
|
|
|
NM_004006.3(DMD):c.9164-11C>T
|
|
|
NM_004006.3(DMD):c.9164-15C>G
|
|
|
NM_004006.3(DMD):c.9164-16C>G
|
rs776000361
|
|
NM_004006.3(DMD):c.9164-4T>A
|
|
|
NM_004006.3(DMD):c.9164-5T>A
|
|
|
NM_004006.3(DMD):c.9164-8_9164-6del
|
rs2148297627
|
|
NM_004006.3(DMD):c.9171C>T (p.Val3057=)
|
rs2148297447
|
|
NM_004006.3(DMD):c.9201A>G (p.Pro3067=)
|
|
|
NM_004006.3(DMD):c.9204C>T (p.Asn3068=)
|
rs2148296955
|
|
NM_004006.3(DMD):c.9210G>T (p.Val3070=)
|
rs147336953
|
|
NM_004006.3(DMD):c.9213C>A (p.Pro3071=)
|
rs2148296836
|
|
NM_004006.3(DMD):c.9213C>G (p.Pro3071=)
|
|
|
NM_004006.3(DMD):c.9224+13T>C
|
|
|
NM_004006.3(DMD):c.9224+14A>G
|
|
|
NM_004006.3(DMD):c.9224+17dup
|
|
|
NM_004006.3(DMD):c.9224+7T>G
|
|
|
NM_004006.3(DMD):c.9224+8G>A
|
rs2148296496
|
|
NM_004006.3(DMD):c.9225-14G>A
|
|
|
NM_004006.3(DMD):c.9225-20C>T
|
|
|
NM_004006.3(DMD):c.9225-20_9225-17del
|
|
|
NM_004006.3(DMD):c.9225-9G>A
|
|
|
NM_004006.3(DMD):c.9225-9G>C
|
rs765266683
|
|
NM_004006.3(DMD):c.9234T>A (p.Thr3078=)
|
rs2147649466
|
|
NM_004006.3(DMD):c.9237A>G (p.Gln3079=)
|
|
|
NM_004006.3(DMD):c.924C>T (p.Thr308=)
|
|
|
NM_004006.3(DMD):c.9258C>A (p.Pro3086=)
|
rs2147649152
|
|
NM_004006.3(DMD):c.9279G>A (p.Gln3093=)
|
rs2147648728
|
|
NM_004006.3(DMD):c.927C>T (p.Thr309=)
|
rs2147580735
|
|
NM_004006.3(DMD):c.9286+10T>A
|
rs2147648174
|
|
NM_004006.3(DMD):c.9286+10T>C
|
|
|
NM_004006.3(DMD):c.9286+11G>A
|
|
|
NM_004006.3(DMD):c.9286+11G>C
|
|
|
NM_004006.3(DMD):c.9286+12G>A
|
|
|
NM_004006.3(DMD):c.9286+14C>A
|
|
|
NM_004006.3(DMD):c.9286+15A>G
|
|
|
NM_004006.3(DMD):c.9286+16T>C
|
|
|
NM_004006.3(DMD):c.9286+17G>T
|
|
|
NM_004006.3(DMD):c.9287-10C>G
|
|
|
NM_004006.3(DMD):c.9287-12C>T
|
|
|
NM_004006.3(DMD):c.9287-4T>C
|
rs2147072069
|
|
NM_004006.3(DMD):c.9287-8C>G
|
|
|
NM_004006.3(DMD):c.93+14G>C
|
|
|
NM_004006.3(DMD):c.93+9G>A
|
|
|
NM_004006.3(DMD):c.9300T>C (p.Asn3100=)
|
rs2147071757
|
|
NM_004006.3(DMD):c.9303C>A (p.Val3101=)
|
|
|
NM_004006.3(DMD):c.9303_9304delinsAC (p.Val3101_Arg3102=)
|
rs2147071669
|
|
NM_004006.3(DMD):c.9315T>C (p.Ala3105=)
|
rs2046261036
|
|
NM_004006.3(DMD):c.9315T>G (p.Ala3105=)
|
rs2046261036
|
|
NM_004006.3(DMD):c.9336C>G (p.Leu3112=)
|
rs1602947791
|
|
NM_004006.3(DMD):c.9340A>C (p.Arg3114=)
|
rs2147071057
|
|
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)
|
rs200928985
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
NM_004006.3(DMD):c.9354C>T (p.Ala3118=)
|
|
|
NM_004006.3(DMD):c.9361+10G>A
|
rs2147070460
|
|
NM_004006.3(DMD):c.9361+11G>T
|
|
|
NM_004006.3(DMD):c.9361+12C>A
|
|
|
NM_004006.3(DMD):c.9361+14A>G
|
|
|
NM_004006.3(DMD):c.9361+15G>A
|
|
|
NM_004006.3(DMD):c.9361+9del
|
|
|
NM_004006.3(DMD):c.9362-14T>C
|
|
|
NM_004006.3(DMD):c.9362-16T>C
|
|
|
NM_004006.3(DMD):c.9362-17T>G
|
|
|
NM_004006.3(DMD):c.9362-18T>C
|
|
|
NM_004006.3(DMD):c.9384T>C (p.Ala3128=)
|
rs1404205189
|
|
NM_004006.3(DMD):c.94-12T>G
|
|
|
NM_004006.3(DMD):c.94-14T>A
|
|
|
NM_004006.3(DMD):c.94-14T>G
|
|
|
NM_004006.3(DMD):c.94-14_94-13insG
|
|
|
NM_004006.3(DMD):c.94-17A>T
|
|
|
NM_004006.3(DMD):c.94-17del
|
rs2149015978
|
|
NM_004006.3(DMD):c.94-19G>T
|
|
|
NM_004006.3(DMD):c.94-1G>T
|
rs863225016
|
|
NM_004006.3(DMD):c.94-20T>C
|
|
|
NM_004006.3(DMD):c.94-2A>T
|
rs1603448428
|
|
NM_004006.3(DMD):c.94-4T>G
|
|
|
NM_004006.3(DMD):c.94-8A>C
|
|
|
NM_004006.3(DMD):c.94-8A>T
|
|
|
NM_004006.3(DMD):c.9400G>T (p.Asp3134Tyr)
|
|
|
NM_004006.3(DMD):c.9405G>A (p.Gln3135=)
|
|
|
NM_004006.3(DMD):c.940C>G (p.Arg314Gly)
|
rs764526102
|
|
NM_004006.3(DMD):c.9417G>A (p.Lys3139=)
|
rs2148592409
|
|
NM_004006.3(DMD):c.9423T>C (p.Asn3141=)
|
rs2148592359
|
|
NM_004006.3(DMD):c.9430C>T (p.Pro3144Ser)
|
|
|
NM_004006.3(DMD):c.9432C>G (p.Pro3144=)
|
rs2148592190
|
|
NM_004006.3(DMD):c.9432C>T (p.Pro3144=)
|
rs2148592190
|
|
NM_004006.3(DMD):c.9438T>C (p.Asp3146=)
|
|
|
NM_004006.3(DMD):c.9441C>A (p.Ile3147=)
|
rs2148592045
|
|
NM_004006.3(DMD):c.9453T>A (p.Ile3151=)
|
rs2148591961
|
|
NM_004006.3(DMD):c.9458G>T (p.Cys3153Phe)
|
|
|
NM_004006.3(DMD):c.9480C>T (p.Arg3160=)
|
|
|
NM_004006.3(DMD):c.9481C>T (p.Leu3161=)
|
rs2044439597
|
|
NM_004006.3(DMD):c.9483G>C (p.Leu3161=)
|
|
|
NM_004006.3(DMD):c.948A>G (p.Pro316=)
|
|
|
NM_004006.3(DMD):c.9495C>T (p.His3165=)
|
|
|
NM_004006.3(DMD):c.9504G>A (p.Leu3168=)
|
rs185247491
|
|
NM_004006.3(DMD):c.9519C>A (p.Leu3173=)
|
rs2148591143
|
|
NM_004006.3(DMD):c.9519C>G (p.Leu3173=)
|
rs2148591143
|
|
NM_004006.3(DMD):c.9535C>T (p.Leu3179=)
|
rs377405269
|
|
NM_004006.3(DMD):c.9540C>T (p.Asn3180=)
|
rs2148590907
|
|
NM_004006.3(DMD):c.9549G>A (p.Leu3183=)
|
rs2148590839
|
|
NM_004006.3(DMD):c.9549G>C (p.Leu3183=)
|
rs2148590839
|
|
NM_004006.3(DMD):c.9552T>C (p.Asn3184=)
|
rs2148590775
|
|
NM_004006.3(DMD):c.9564-11_9564-3del
|
|
|
NM_004006.3(DMD):c.9564-15G>A
|
|
|
NM_004006.3(DMD):c.9564-18T>C
|
|
|
NM_004006.3(DMD):c.9564-19C>T
|
|
|
NM_004006.3(DMD):c.9564-20G>C
|
|
|
NM_004006.3(DMD):c.9564-4A>T
|
|
|
NM_004006.3(DMD):c.9564-6T>C
|
rs876657453
|
|
NM_004006.3(DMD):c.9564-7A>T
|
rs1162179227
|
|
NM_004006.3(DMD):c.9577A>C (p.Arg3193=)
|
rs1330395943
|
|
NM_004006.3(DMD):c.9579G>A (p.Arg3193=)
|
|
|
NM_004006.3(DMD):c.957A>T (p.Ser319=)
|
|
|
NM_004006.3(DMD):c.9591G>A (p.Leu3197=)
|
|
|
NM_004006.3(DMD):c.9594T>A (p.Ser3198=)
|
rs2148564482
|
|
NM_004006.3(DMD):c.960+10C>T
|
rs2147579685
|
|
NM_004006.3(DMD):c.960+11A>G
|
rs1057522246
|
|
NM_004006.3(DMD):c.960+15A>G
|
|
|
NM_004006.3(DMD):c.960+18C>G
|
|
|
NM_004006.3(DMD):c.9603T>C (p.Thr3201=)
|
rs2148564388
|
|
NM_004006.3(DMD):c.9603T>G (p.Thr3201=)
|
|
|
NM_004006.3(DMD):c.961-11_961-7del
|
|
|
NM_004006.3(DMD):c.961-12T>A
|
|
|
NM_004006.3(DMD):c.961-14A>G
|
|
|
NM_004006.3(DMD):c.961-20C>A
|
rs2146836340
|
|
NM_004006.3(DMD):c.961-4G>A
|
|
|
NM_004006.3(DMD):c.961-4G>T
|
rs772215948
|
|
NM_004006.3(DMD):c.961-5831C>A
|
rs398124099
|
|
NM_004006.3(DMD):c.961-5831C>G
|
|
|
NM_004006.3(DMD):c.961-6G>A
|
rs886042535
|
|
NM_004006.3(DMD):c.961-6G>T
|
|
|
NM_004006.3(DMD):c.9616C>T (p.Leu3206=)
|
|
|
NM_004006.3(DMD):c.9633G>A (p.Leu3211=)
|
rs2148564156
|
|
NM_004006.3(DMD):c.9649+7C>T
|
rs2044091108
|
|
NM_004006.3(DMD):c.9650-12C>T
|
|
|
NM_004006.3(DMD):c.9650-15C>A
|
|
|
NM_004006.3(DMD):c.9650-18T>G
|
|
|
NM_004006.3(DMD):c.9650-20A>G
|
|
|
NM_004006.3(DMD):c.9663A>G (p.Gln3221=)
|
|
|
NM_004006.3(DMD):c.9672T>C (p.Ser3224=)
|
rs1060504679
|
|
NM_004006.3(DMD):c.967G>A (p.Glu323Lys)
|
|
|
NM_004006.3(DMD):c.9693G>A (p.Gln3231=)
|
|
|
NM_004006.3(DMD):c.9699G>A (p.Arg3233=)
|
rs2148541409
|
|
NM_004006.3(DMD):c.970G>T (p.Ala324Ser)
|
|
|
NM_004006.3(DMD):c.9711T>C (p.Leu3237=)
|
rs2148541324
|
|
NM_004006.3(DMD):c.9717T>C (p.His3239=)
|
rs2148541229
|
|
NM_004006.3(DMD):c.971C>A (p.Ala324Asp)
|
|
|
NM_004006.3(DMD):c.9726C>T (p.Ile3242=)
|
|
|
NM_004006.3(DMD):c.972T>A (p.Ala324=)
|
rs2059702195
|
|
NM_004006.3(DMD):c.972T>C (p.Ala324=)
|
|
|
NM_004006.3(DMD):c.972T>G (p.Ala324=)
|
|
|
NM_004006.3(DMD):c.9742T>C (p.Leu3248=)
|
|
|
NM_004006.3(DMD):c.9747T>G (p.Gly3249=)
|
|
|
NM_004006.3(DMD):c.9753T>C (p.Val3251=)
|
|
|
NM_004006.3(DMD):c.9756A>G (p.Ala3252=)
|
rs2148540830
|
|
NM_004006.3(DMD):c.9759C>T (p.Ser3253=)
|
rs2148540799
|
|
NM_004006.3(DMD):c.9765G>A (p.Gly3255=)
|
rs2148540768
|
|
NM_004006.3(DMD):c.9768C>T (p.Gly3256=)
|
|
|
NM_004006.3(DMD):c.9786T>C (p.Ser3262=)
|
rs1052771260
|
|
NM_004006.3(DMD):c.9789C>A (p.Val3263=)
|
|
|
NM_004006.3(DMD):c.9798C>T (p.Cys3266=)
|
|
|
NM_004006.3(DMD):c.9807+11C>T
|
|
|
NM_004006.3(DMD):c.9807+13C>T
|
|
|
NM_004006.3(DMD):c.9807+8A>G
|
rs2043791196
|
|
NM_004006.3(DMD):c.9807+8A>T
|
|
|
NM_004006.3(DMD):c.9807+9T>C
|
|
|
NM_004006.3(DMD):c.9808-11T>C
|
|
|
NM_004006.3(DMD):c.9808-13C>T
|
|
|
NM_004006.3(DMD):c.9808-15C>A
|
rs925953969
|
|
NM_004006.3(DMD):c.9808-17C>T
|
|
|
NM_004006.3(DMD):c.9808-19C>T
|
|
|
NM_004006.3(DMD):c.9808-4G>T
|
|
|
NM_004006.3(DMD):c.9837C>T (p.Ala3279=)
|
rs1602456031
|
|
NM_004006.3(DMD):c.9846A>G (p.Leu3282=)
|
|
|
NM_004006.3(DMD):c.9861G>T (p.Leu3287=)
|
|
|
NM_004006.3(DMD):c.9867C>G (p.Pro3289=)
|
|
|
NM_004006.3(DMD):c.987A>T (p.Ser329=)
|
rs1350663706
|
|
NM_004006.3(DMD):c.9885G>A (p.Leu3295=)
|
rs754265253
|
|
NM_004006.3(DMD):c.9885G>T (p.Leu3295=)
|
|
|
NM_004006.3(DMD):c.9888C>G (p.Pro3296=)
|
rs146543659
|
|
NM_004006.3(DMD):c.9900A>G (p.Arg3300=)
|
|
|
NM_004006.3(DMD):c.9921C>T (p.Ala3307=)
|
rs2148334246
|
|
NM_004006.3(DMD):c.993C>G (p.Gly331=)
|
|
|
NM_004006.3(DMD):c.9960A>G (p.Pro3320=)
|
rs2148333709
|
|
NM_004006.3(DMD):c.9974+13A>C
|
|
|
NM_004006.3(DMD):c.9974+14_9974+15insT
|
|
|
NM_004006.3(DMD):c.9974+17_9974+18insC
|
|
|
NM_004006.3(DMD):c.9974+18A>C
|
|
|
NM_004006.3(DMD):c.9974+18A>G
|
|
|
NM_004006.3(DMD):c.9974+18_9974+19insG
|
|
|
NM_004006.3(DMD):c.9974+19_9974+20insC
|
rs2148333220
|
|
NM_004006.3(DMD):c.9974+19_9974+20insG
|
|
|
NM_004006.3(DMD):c.9974+7G>A
|
rs2041294009
|
|
NM_004006.3(DMD):c.9975-10T>C
|
rs2148312424
|
|
NM_004006.3(DMD):c.9975-18_9975-15del
|
|
|
NM_004006.3(DMD):c.9975-24G>A
|
|
|
NM_004006.3(DMD):c.9975-8T>C
|
|
|
NM_004006.3(DMD):c.9975-9C>T
|
rs2148312376
|
|
NM_004006.3(DMD):c.9978C>T (p.Tyr3326=)
|
|
|
NM_004006.3(DMD):c.9981G>A (p.Arg3327=)
|
rs2148312076
|
|
NM_004006.3(DMD):c.9993C>T (p.His3331=)
|
|
|
NM_004006.3(DMD):c.999A>C (p.Ser333=)
|
|
|