NM_004006.3(DMD):c.3604-12T>A
|
rs183613970
|
0.00123
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala)
|
rs376720228
|
0.00013
|
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)
|
rs373898385
|
0.00008
|
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)
|
rs369055628
|
0.00008
|
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)
|
rs751145927
|
0.00008
|
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)
|
rs137898199
|
0.00007
|
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
NM_004006.3(DMD):c.2362G>T (p.Val788Leu)
|
rs756267575
|
0.00005
|
NM_004006.3(DMD):c.6101A>T (p.Gln2034Leu)
|
rs144754029
|
0.00005
|
NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile)
|
rs758654750
|
0.00005
|
NM_004006.3(DMD):c.940C>T (p.Arg314Trp)
|
rs764526102
|
0.00005
|
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp)
|
rs373475448
|
0.00004
|
NM_004006.3(DMD):c.9563C>T (p.Thr3188Met)
|
rs1026613996
|
0.00004
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.10955C>G (p.Thr3652Arg)
|
rs1131691998
|
0.00003
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro)
|
rs766325631
|
0.00003
|
NM_004006.3(DMD):c.626T>C (p.Ile209Thr)
|
rs372832497
|
0.00003
|
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln)
|
rs756238158
|
0.00003
|
NM_004006.3(DMD):c.9265A>T (p.Thr3089Ser)
|
rs776860944
|
0.00003
|
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg)
|
rs1216968523
|
0.00002
|
NM_004006.3(DMD):c.1823C>T (p.Ala608Val)
|
rs189896732
|
0.00002
|
NM_004006.3(DMD):c.367G>A (p.Val123Ile)
|
rs757220688
|
0.00002
|
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)
|
rs759820971
|
0.00002
|
NM_004006.3(DMD):c.3971G>A (p.Arg1324His)
|
rs768990357
|
0.00002
|
NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu)
|
rs763028318
|
0.00002
|
NM_004006.3(DMD):c.9076C>T (p.Leu3026Phe)
|
rs749533073
|
0.00002
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
NM_004006.3(DMD):c.10554-4A>G
|
rs398123841
|
0.00001
|
NM_004006.3(DMD):c.10567G>C (p.Glu3523Gln)
|
rs1131691670
|
0.00001
|
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)
|
rs773299186
|
0.00001
|
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)
|
rs863224981
|
0.00001
|
NM_004006.3(DMD):c.1523A>G (p.Asn508Ser)
|
rs886044658
|
0.00001
|
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys)
|
rs778354538
|
0.00001
|
NM_004006.3(DMD):c.1649G>A (p.Arg550His)
|
rs1424295439
|
0.00001
|
NM_004006.3(DMD):c.1739A>G (p.Asp580Gly)
|
rs1246969208
|
0.00001
|
NM_004006.3(DMD):c.2645A>T (p.Asp882Val)
|
rs228406
|
0.00001
|
NM_004006.3(DMD):c.3029C>A (p.Ala1010Glu)
|
rs780896933
|
0.00001
|
NM_004006.3(DMD):c.3492A>T (p.Lys1164Asn)
|
rs1032762656
|
0.00001
|
NM_004006.3(DMD):c.3848A>G (p.Asn1283Ser)
|
rs778145106
|
0.00001
|
NM_004006.3(DMD):c.3937A>G (p.Met1313Val)
|
rs794729003
|
0.00001
|
NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys)
|
rs1278483491
|
0.00001
|
NM_004006.3(DMD):c.5149C>T (p.Leu1717Phe)
|
rs769383291
|
0.00001
|
NM_004006.3(DMD):c.5233C>T (p.Arg1745Cys)
|
rs1326450715
|
0.00001
|
NM_004006.3(DMD):c.5750G>A (p.Arg1917Gln)
|
rs760528813
|
0.00001
|
NM_004006.3(DMD):c.5785G>C (p.Val1929Leu)
|
rs794729004
|
0.00001
|
NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser)
|
rs900089672
|
0.00001
|
NM_004006.3(DMD):c.6713T>C (p.Leu2238Pro)
|
rs1263279166
|
0.00001
|
NM_004006.3(DMD):c.697A>G (p.Thr233Ala)
|
rs1429767974
|
0.00001
|
NM_004006.3(DMD):c.7570C>T (p.Arg2524Cys)
|
rs886043732
|
0.00001
|
NM_004006.3(DMD):c.8488C>T (p.Arg2830Trp)
|
rs1569547242
|
0.00001
|
NM_004006.3(DMD):c.8628G>C (p.Gln2876His)
|
rs777817144
|
0.00001
|
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)
|
rs1319200626
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:32620055-33514149)x2
|
|
|
GRCh38/hg38 Xp21.1(chrX:32720062-32797373)x2
|
|
|
NM_004006.3(DMD):c.*57_*60dup
|
rs1327332363
|
|
NM_004006.3(DMD):c.10134_10136del (p.Asn3378del)
|
rs2148291719
|
|
NM_004006.3(DMD):c.10232C>A (p.Thr3411Asn)
|
rs1042981379
|
|
NM_004006.3(DMD):c.10270_10275del (p.Ser3424_Ser3425del)
|
|
|
NM_004006.3(DMD):c.10801C>G (p.Gln3601Glu)
|
|
|
NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile)
|
rs1555996685
|
|
NM_004006.3(DMD):c.10932TCT[1] (p.Leu3646del)
|
rs2147775174
|
|
NM_004006.3(DMD):c.1144C>T (p.His382Tyr)
|
rs1556876180
|
|
NM_004006.3(DMD):c.1153T>C (p.Tyr385His)
|
rs2059650911
|
|
NM_004006.3(DMD):c.1245T>G (p.Asp415Glu)
|
rs2146820271
|
|
NM_004006.3(DMD):c.1315A>G (p.Met439Val)
|
rs1569373322
|
|
NM_004006.3(DMD):c.1481A>G (p.Lys494Arg)
|
rs1556853018
|
|
NM_004006.3(DMD):c.1635A>T (p.Arg545Ser)
|
rs5927083
|
|
NM_004006.3(DMD):c.1639A>G (p.Thr547Ala)
|
rs2052707401
|
|
NM_004006.3(DMD):c.170T>C (p.Leu57Pro)
|
rs886044431
|
|
NM_004006.3(DMD):c.1753A>G (p.Ile585Val)
|
rs1085307667
|
|
NM_004006.3(DMD):c.1826A>G (p.Asp609Gly)
|
rs2149095572
|
|
NM_004006.3(DMD):c.187-10_187-6del
|
rs1557079581
|
|
NM_004006.3(DMD):c.1939T>A (p.Phe647Ile)
|
rs1057524872
|
|
NM_004006.3(DMD):c.1961T>C (p.Leu654Ser)
|
rs1057518312
|
|
NM_004006.3(DMD):c.1993-13A>G
|
|
|
NM_004006.3(DMD):c.1998A>T (p.Ser666=)
|
rs1289591017
|
|
NM_004006.3(DMD):c.2048A>G (p.Glu683Gly)
|
rs2048862731
|
|
NM_004006.3(DMD):c.230T>A (p.Val77Asp)
|
rs886042956
|
|
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)
|
rs794727226
|
|
NM_004006.3(DMD):c.245G>C (p.Arg82Pro)
|
rs1228664222
|
|
NM_004006.3(DMD):c.2556G>T (p.Trp852Cys)
|
rs1429329309
|
|
NM_004006.3(DMD):c.2734G>A (p.Val912Met)
|
rs201549805
|
|
NM_004006.3(DMD):c.2810A>C (p.Asp937Ala)
|
rs768386277
|
|
NM_004006.3(DMD):c.2887T>A (p.Ser963Thr)
|
|
|
NM_004006.3(DMD):c.2931G>T (p.Gln977His)
|
rs759350909
|
|
NM_004006.3(DMD):c.3334G>A (p.Gly1112Arg)
|
rs777598938
|
|
NM_004006.3(DMD):c.3411G>T (p.Gln1137His)
|
|
|
NM_004006.3(DMD):c.3766G>T (p.Gly1256Trp)
|
rs2148287402
|
|
NM_004006.3(DMD):c.385G>A (p.Ala129Thr)
|
rs1085307548
|
|
NM_004006.3(DMD):c.4022A>T (p.Asn1341Ile)
|
|
|
NM_004006.3(DMD):c.428G>T (p.Trp143Leu)
|
rs1452761489
|
|
NM_004006.3(DMD):c.4299G>T (p.Gly1433=)
|
rs1174990294
|
|
NM_004006.3(DMD):c.4307C>G (p.Ala1436Gly)
|
|
|
NM_004006.3(DMD):c.4852C>G (p.Gln1618Glu)
|
rs1085307535
|
|
NM_004006.3(DMD):c.4890T>A (p.Ser1630Arg)
|
rs1603631755
|
|
NM_004006.3(DMD):c.5409G>T (p.Gln1803His)
|
|
|
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly)
|
rs376202643
|
|
NM_004006.3(DMD):c.6179C>T (p.Thr2060Ile)
|
rs794729000
|
|
NM_004006.3(DMD):c.6296T>C (p.Phe2099Ser)
|
rs1229763776
|
|
NM_004006.3(DMD):c.652G>A (p.Val218Ile)
|
rs1085307594
|
|
NM_004006.3(DMD):c.6530A>G (p.Asp2177Gly)
|
rs2150187516
|
|
NM_004006.3(DMD):c.690G>T (p.Met230Ile)
|
rs2147606511
|
|
NM_004006.3(DMD):c.7456C>T (p.Leu2486Phe)
|
|
|
NM_004006.3(DMD):c.755A>G (p.Glu252Gly)
|
|
|
NM_004006.3(DMD):c.7654G>A (p.Asp2552Asn)
|
rs794729001
|
|
NM_004006.3(DMD):c.7795G>T (p.Ala2599Ser)
|
rs1569220550
|
|
NM_004006.3(DMD):c.7967C>G (p.Thr2656Ser)
|
|
|
NM_004006.3(DMD):c.8006C>T (p.Ser2669Phe)
|
|
|
NM_004006.3(DMD):c.8333G>A (p.Arg2778His)
|
rs2071050854
|
|
NM_004006.3(DMD):c.8413G>A (p.Asp2805Asn)
|
|
|
NM_004006.3(DMD):c.844C>A (p.Leu282Ile)
|
rs1188593868
|
|
NM_004006.3(DMD):c.8960C>A (p.Pro2987His)
|
rs2149075905
|
|
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys)
|
rs769658853
|
|
NM_004006.3(DMD):c.9225-15T>G
|
rs2147649892
|
|
NM_004006.3(DMD):c.9299A>G (p.Asn3100Ser)
|
rs794729002
|
|
NM_004006.3(DMD):c.932A>G (p.Asp311Gly)
|
rs760932600
|
|
NM_004006.3(DMD):c.9388T>C (p.Cys3130Arg)
|
rs932848232
|
|
NM_004006.3(DMD):c.9472T>A (p.Tyr3158Asn)
|
rs2148591743
|
|
NM_004006.3(DMD):c.9749A>C (p.Glu3250Ala)
|
rs2148540881
|
|