NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)
|
rs1800280
|
0.95243
|
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln)
|
rs1800275
|
0.21153
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
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.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
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.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_004006.3(DMD):c.4072-106G>A
|
rs372444729
|
0.00009
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.2528A>T (p.Glu843Val)
|
rs202167701
|
0.00002
|
NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe)
|
rs794727380
|
0.00002
|
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)
|
rs780283825
|
0.00002
|
NM_004006.3(DMD):c.4258C>T (p.His1420Tyr)
|
rs1475038240
|
0.00001
|
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
|
rs1295935628
|
0.00001
|
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
|
rs398124008
|
0.00001
|
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly)
|
rs932848232
|
0.00001
|
NC_000023.11:g.32390170_32390182del
|
rs2147621477
|
|
NC_000023.11:g.32565874_32565883dup
|
rs2149095626
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter)
|
rs1181271457
|
|
NM_004006.3(DMD):c.10086+1G>T
|
rs398123828
|
|
NM_004006.3(DMD):c.10087-1G>A
|
rs1602417503
|
|
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)
|
rs1060502613
|
|
NM_004006.3(DMD):c.10223+4A>G
|
rs2148290215
|
|
NM_004006.3(DMD):c.10223+5G>C
|
rs2148290176
|
|
NM_004006.3(DMD):c.10224-1dup
|
rs1602409174
|
|
NM_004006.3(DMD):c.10224dup (p.Pro3409fs)
|
rs2148280837
|
|
NM_004006.3(DMD):c.10262+1G>T
|
rs145603325
|
|
NM_004006.3(DMD):c.10304C>G (p.Ser3435Ter)
|
rs1602369798
|
|
NM_004006.3(DMD):c.10367del (p.Asn3456fs)
|
rs1556028034
|
|
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)
|
rs895755247
|
|
NM_004006.3(DMD):c.10498_10499del (p.Glu3499_Ser3500insTer)
|
rs1602337330
|
|
NM_004006.3(DMD):c.10633_10634dup (p.Met3545fs)
|
rs1602146767
|
|
NM_004006.3(DMD):c.10677dup (p.Ala3560fs)
|
rs2147934458
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.1098dup (p.Glu367fs)
|
rs2146833198
|
|
NM_004006.3(DMD):c.1129del (p.Asp377fs)
|
rs1602467787
|
|
NM_004006.3(DMD):c.1144del (p.His382fs)
|
rs1602467590
|
|
NM_004006.3(DMD):c.1147G>T (p.Glu383Ter)
|
rs1602467530
|
|
NM_004006.3(DMD):c.1150-2A>T
|
rs794727030
|
|
NM_004006.3(DMD):c.1329C>T (p.Ser443=)
|
rs1060502631
|
|
NM_004006.3(DMD):c.1331+3_1331+6del
|
rs2146818031
|
|
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)
|
rs1602169535
|
|
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile)
|
rs201058100
|
|
NM_004006.3(DMD):c.1422G>T (p.Met474Ile)
|
rs1602169021
|
|
NM_004006.3(DMD):c.1480A>T (p.Lys494Ter)
|
rs1234153462
|
|
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)
|
rs128626241
|
|
NM_004006.3(DMD):c.1602+2T>A
|
rs2149264374
|
|
NM_004006.3(DMD):c.1664_1667dup (p.Asp556fs)
|
rs1601810667
|
|
NM_004006.3(DMD):c.1734dup (p.Glu579fs)
|
rs398123866
|
|
NM_004006.3(DMD):c.1750A>T (p.Lys584Ter)
|
rs1601808608
|
|
NM_004006.3(DMD):c.1777C>T (p.Gln593Ter)
|
rs1601808326
|
|
NM_004006.3(DMD):c.1788del (p.Met596fs)
|
rs1601808296
|
|
NM_004006.3(DMD):c.1791dup (p.Ser598fs)
|
rs1601808288
|
|
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter)
|
rs2149095319
|
|
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
|
rs1603636541
|
|
NM_004006.3(DMD):c.1941dup (p.Ala648fs)
|
rs2149094788
|
|
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)
|
rs1603636537
|
|
NM_004006.3(DMD):c.196A>T (p.Lys66Ter)
|
rs1603447072
|
|
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)
|
rs128626232
|
|
NM_004006.3(DMD):c.2064dup (p.Thr689fs)
|
rs1603635953
|
|
NM_004006.3(DMD):c.208A>T (p.Arg70Ter)
|
rs2080510348
|
|
NM_004006.3(DMD):c.2101del (p.Glu701fs)
|
rs1603635950
|
|
NM_004006.3(DMD):c.2114del (p.Pro705fs)
|
rs1603635949
|
|
NM_004006.3(DMD):c.2169-1G>A
|
rs1603635331
|
|
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs)
|
rs2148804513
|
|
NM_004006.3(DMD):c.2287_2292+12del
|
rs1603635326
|
|
NM_004006.3(DMD):c.2293-2_2294del
|
rs2148691727
|
|
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)
|
rs201366610
|
|
NM_004006.3(DMD):c.2305G>T (p.Glu769Ter)
|
rs2148691516
|
|
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter)
|
rs763844939
|
|
NM_004006.3(DMD):c.2380+1G>A
|
rs398123884
|
|
NM_004006.3(DMD):c.2407del (p.Gln803fs)
|
rs1603634748
|
|
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter)
|
rs398123889
|
|
NM_004006.3(DMD):c.2442del (p.Glu814fs)
|
rs1603634747
|
|
NM_004006.3(DMD):c.2448C>A (p.Cys816Ter)
|
rs1603634746
|
|
NM_004006.3(DMD):c.2461G>T (p.Glu821Ter)
|
rs1603634745
|
|
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.2499del (p.Ile833fs)
|
rs2148631657
|
|
NM_004006.3(DMD):c.2529del (p.Glu843fs)
|
rs1603634743
|
|
NM_004006.3(DMD):c.2572_2578del (p.Thr858fs)
|
rs1603634742
|
|
NM_004006.3(DMD):c.261_264+3del
|
rs2148984206
|
|
NM_004006.3(DMD):c.2622+1G>T
|
rs398123901
|
|
NM_004006.3(DMD):c.2633A>G (p.Asn878Ser)
|
rs2148584563
|
|
NM_004006.3(DMD):c.263_264dup (p.Val89fs)
|
rs1603447057
|
|
NM_004006.3(DMD):c.264+5G>A
|
rs398123902
|
|
NM_004006.3(DMD):c.2642C>A (p.Ser881Ter)
|
rs747937552
|
|
NM_004006.3(DMD):c.265-463A>G
|
rs1603441629
|
|
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.266T>C (p.Val89Ala)
|
rs1557058441
|
|
NM_004006.3(DMD):c.2694dup (p.Glu899fs)
|
rs1603634609
|
|
NM_004006.3(DMD):c.2708del (p.Gly903fs)
|
rs1603634607
|
|
NM_004006.3(DMD):c.2792_2793del (p.Glu931fs)
|
rs1603634604
|
|
NM_004006.3(DMD):c.2803+5G>C
|
rs1603634603
|
|
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg)
|
rs2040732218
|
|
NM_004006.3(DMD):c.2853del (p.Arg952fs)
|
rs1603634299
|
|
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)
|
rs1603634298
|
|
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter)
|
rs2148485357
|
|
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)
|
rs767387334
|
|
NM_004006.3(DMD):c.2950-2A>G
|
rs398123915
|
|
NM_004006.3(DMD):c.2960del (p.Ser987fs)
|
rs1603634207
|
|
NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter)
|
rs1603634206
|
|
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter)
|
rs398123919
|
|
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter)
|
rs398123920
|
|
NM_004006.3(DMD):c.31+1del
|
rs1603419074
|
|
NM_004006.3(DMD):c.31+5G>A
|
rs1403865104
|
|
NM_004006.3(DMD):c.31+7A>G
|
rs2148863971
|
|
NM_004006.3(DMD):c.3110_3111del (p.Val1037fs)
|
rs1603634203
|
|
NM_004006.3(DMD):c.3157dup (p.Ile1053fs)
|
rs1603634199
|
|
NM_004006.3(DMD):c.3162+1G>A
|
rs1335666832
|
|
NM_004006.3(DMD):c.3193del (p.Ala1065fs)
|
rs1603634105
|
|
NM_004006.3(DMD):c.3257del (p.Lys1086fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3257dup (p.Gln1087fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3295_3296del (p.Gln1099fs)
|
rs1603634079
|
|
NM_004006.3(DMD):c.332T>A (p.Ile111Asn)
|
rs1603441549
|
|
NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs)
|
rs1557369413
|
|
NM_004006.3(DMD):c.3460G>T (p.Gly1154Ter)
|
rs1603633868
|
|
NM_004006.3(DMD):c.3533_3536del (p.Glu1178fs)
|
rs1603633864
|
|
NM_004006.3(DMD):c.356del (p.Gln119fs)
|
rs1557058308
|
|
NM_004006.3(DMD):c.3603+1G>A
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+2T>A
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.3603+2dup
|
rs796523999
|
|
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)
|
rs1265370991
|
|
NM_004006.3(DMD):c.3639del (p.Lys1213_Val1214insTer)
|
rs398123943
|
|
NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter)
|
rs1339088514
|
|
NM_004006.3(DMD):c.3713del (p.Lys1238fs)
|
rs1557362198
|
|
NM_004006.3(DMD):c.3787-2A>G
|
rs1474837238
|
|
NM_004006.3(DMD):c.3795G>A (p.Trp1265Ter)
|
rs1603633545
|
|
NM_004006.3(DMD):c.3843G>A (p.Trp1281Ter)
|
rs1603633541
|
|
NM_004006.3(DMD):c.394C>T (p.Gln132Ter)
|
rs2148807584
|
|
NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs)
|
rs2148194212
|
|
NM_004006.3(DMD):c.3980del (p.Ala1327fs)
|
rs1603633486
|
|
NM_004006.3(DMD):c.39del (p.Glu14fs)
|
rs1602766655
|
|
NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs)
|
rs2148193225
|
|
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter)
|
rs2147935387
|
|
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg)
|
rs1603632892
|
|
NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter)
|
rs1010666282
|
|
NM_004006.3(DMD):c.4294C>T (p.Gln1432Ter)
|
rs1603632326
|
|
NM_004006.3(DMD):c.4306_4309del (p.Ala1436fs)
|
rs1603632324
|
|
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)
|
rs1603632322
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.4350dup (p.Leu1451fs)
|
rs772220893
|
|
NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter)
|
rs1603632316
|
|
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs)
|
rs2147613101
|
|
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)
|
rs128626248
|
|
NM_004006.3(DMD):c.4423A>T (p.Lys1475Ter)
|
rs1603632314
|
|
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter)
|
rs1603632311
|
|
NM_004006.3(DMD):c.444del (p.Arg149fs)
|
rs1603437272
|
|
NM_004006.3(DMD):c.4477_4493del (p.Val1493fs)
|
rs1603632309
|
|
NM_004006.3(DMD):c.4536_4540del (p.Val1515_Lys1516insTer)
|
rs1603632248
|
|
NM_004006.3(DMD):c.453T>G (p.Tyr151Ter)
|
rs1603437254
|
|
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)
|
rs1557320194
|
|
NM_004006.3(DMD):c.464A>G (p.Asn155Ser)
|
rs2148806581
|
|
NM_004006.3(DMD):c.4660G>T (p.Glu1554Ter)
|
rs1216000876
|
|
NM_004006.3(DMD):c.4684A>T (p.Arg1562Ter)
|
rs771425504
|
|
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs)
|
rs1603632119
|
|
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)
|
rs1603632117
|
|
NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter)
|
rs2147472174
|
|
NM_004006.3(DMD):c.474C>A (p.Asn158Lys)
|
rs1324314201
|
|
NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter)
|
rs2147470742
|
|
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)
|
rs1569560475
|
|
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del)
|
rs1569528101
|
|
NM_004006.3(DMD):c.4860_4861del (p.Glu1620fs)
|
rs1603631756
|
|
NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs)
|
rs2147261153
|
|
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
|
rs1603631752
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.5026-2A>G
|
rs1569559849
|
|
NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter)
|
rs1603631744
|
|
NM_004006.3(DMD):c.5078del (p.Lys1693fs)
|
rs2147253701
|
|
NM_004006.3(DMD):c.5131del (p.Gln1711fs)
|
rs2147252708
|
|
NM_004006.3(DMD):c.5167G>T (p.Glu1723Ter)
|
rs1603631705
|
|
NM_004006.3(DMD):c.5255T>G (p.Leu1752Ter)
|
rs373428963
|
|
NM_004006.3(DMD):c.531-10T>A
|
rs747522183
|
|
NM_004006.3(DMD):c.531-1G>C
|
rs1569526579
|
|
NM_004006.3(DMD):c.5326-11_5326-7dup
|
rs398123988
|
|
NM_004006.3(DMD):c.5358del (p.Phe1786fs)
|
rs1603631368
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5376del (p.Lys1792fs)
|
rs1603631367
|
|
NM_004006.3(DMD):c.53del (p.Lys18fs)
|
rs1602766531
|
|
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)
|
rs2147031776
|
|
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)
|
rs1569559097
|
|
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)
|
rs1603631244
|
|
NM_004006.3(DMD):c.5689G>T (p.Glu1897Ter)
|
rs1603631240
|
|
NM_004006.3(DMD):c.5689dup (p.Glu1897fs)
|
rs1603631241
|
|
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg)
|
rs794727662
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.572C>A (p.Ser191Ter)
|
rs794727863
|
|
NM_004006.3(DMD):c.5740-1G>T
|
rs2148813707
|
|
NM_004006.3(DMD):c.574_577del (p.Ala192fs)
|
rs2148751467
|
|
NM_004006.3(DMD):c.5821dup (p.Ala1941fs)
|
rs1603631225
|
|
NM_004006.3(DMD):c.589G>T (p.Glu197Ter)
|
rs1340365803
|
|
NM_004006.3(DMD):c.58del (p.Thr20fs)
|
rs1602766499
|
|
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)
|
rs398124002
|
|
NM_004006.3(DMD):c.6023C>G (p.Ser2008Ter)
|
rs1603630431
|
|
NM_004006.3(DMD):c.6151del (p.Arg2051fs)
|
rs1603629988
|
|
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter)
|
rs2148456401
|
|
NM_004006.3(DMD):c.6290+5G>T
|
|
|
NM_004006.3(DMD):c.6300del (p.Asp2100fs)
|
rs1603628487
|
|
NM_004006.3(DMD):c.633dup (p.Leu212fs)
|
rs2148750700
|
|
NM_004006.3(DMD):c.6356G>A (p.Trp2119Ter)
|
rs1603628485
|
|
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)
|
rs1603628483
|
|
NM_004006.3(DMD):c.635_636dup (p.Leu213fs)
|
rs1603432059
|
|
NM_004006.3(DMD):c.6364_6365del (p.Glu2122fs)
|
rs1603628482
|
|
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter)
|
rs1603628479
|
|
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs)
|
rs2150188102
|
|
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter)
|
rs2150187643
|
|
NM_004006.3(DMD):c.6610_6611del (p.Lys2204fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.666T>G (p.Tyr222Ter)
|
rs1603151699
|
|
NM_004006.3(DMD):c.6754C>T (p.Gln2252Ter)
|
rs1603615883
|
|
NM_004006.3(DMD):c.6760A>T (p.Lys2254Ter)
|
rs201818335
|
|
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter)
|
rs1557010214
|
|
NM_004006.3(DMD):c.6913-1G>T
|
rs1603514271
|
|
NM_004006.3(DMD):c.6913-2A>T
|
rs1603514272
|
|
NM_004006.3(DMD):c.693C>G (p.Tyr231Ter)
|
rs374222301
|
|
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter)
|
rs781054741
|
|
NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter)
|
rs2149680248
|
|
NM_004006.3(DMD):c.7027del (p.Trp2343fs)
|
rs1603513828
|
|
NM_004006.3(DMD):c.7028G>A (p.Trp2343Ter)
|
rs1603513817
|
|
NM_004006.3(DMD):c.7029G>A (p.Trp2343Ter)
|
rs1603513803
|
|
NM_004006.3(DMD):c.7068del (p.Gln2356fs)
|
rs1603513680
|
|
NM_004006.3(DMD):c.7098+1G>A
|
rs1556962223
|
|
NM_004006.3(DMD):c.709C>T (p.Gln237Ter)
|
rs2147605826
|
|
NM_004006.3(DMD):c.709del (p.Gln237fs)
|
rs1603150993
|
|
NM_004006.3(DMD):c.7309+1G>C
|
rs398124044
|
|
NM_004006.3(DMD):c.7309+1G>T
|
rs398124044
|
|
NM_004006.3(DMD):c.7309+4del
|
rs2149424269
|
|
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs)
|
rs2147605245
|
|
NM_004006.3(DMD):c.7564C>T (p.Gln2522Ter)
|
rs1603452207
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
NM_004006.3(DMD):c.7661-2A>C
|
rs1556806356
|
|
NM_004006.3(DMD):c.7661-6T>G
|
rs2148734428
|
|
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)
|
rs1603445344
|
|
NM_004006.3(DMD):c.7717C>T (p.Gln2573Ter)
|
rs1603445332
|
|
NM_004006.3(DMD):c.774dup (p.Lys259Ter)
|
rs1603150335
|
|
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter)
|
rs2148733515
|
|
NM_004006.3(DMD):c.7858dup (p.Ile2620fs)
|
rs1603445283
|
|
NM_004006.3(DMD):c.7872+1G>A
|
rs1603445278
|
|
NM_004006.3(DMD):c.7872+2T>A
|
rs1603445277
|
|
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)
|
rs878854383
|
|
NM_004006.3(DMD):c.8027+1G>A
|
rs1556789913
|
|
NM_004006.3(DMD):c.8027+1G>T
|
rs1556789913
|
|
NM_004006.3(DMD):c.8028-1G>A
|
rs2148423696
|
|
NM_004006.3(DMD):c.8145dup (p.Gln2716fs)
|
rs1603430181
|
|
NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter)
|
rs1603430178
|
|
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)
|
rs2148421809
|
|
NM_004006.3(DMD):c.822T>A (p.Tyr274Ter)
|
rs1603149954
|
|
NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter)
|
rs1603280796
|
|
NM_004006.3(DMD):c.8299G>T (p.Glu2767Ter)
|
rs1603280745
|
|
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs)
|
rs2147176325
|
|
NM_004006.3(DMD):c.8326del (p.Gln2776fs)
|
rs1603280686
|
|
NM_004006.3(DMD):c.8391-1G>A
|
rs1603264731
|
|
NM_004006.3(DMD):c.839del (p.Val280fs)
|
rs1603137168
|
|
NM_004006.3(DMD):c.8417del (p.Gln2806fs)
|
rs1603264705
|
|
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)
|
rs2147075923
|
|
NM_004006.3(DMD):c.8451del (p.Leu2818fs)
|
rs1603264659
|
|
NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter)
|
rs1603264641
|
|
NM_004006.3(DMD):c.8569del (p.Thr2857fs)
|
rs1603226023
|
|
NM_004006.3(DMD):c.857dup (p.Tyr286Ter)
|
rs1556929259
|
|
NM_004006.3(DMD):c.8668+138G>A
|
rs1603225135
|
|
NM_004006.3(DMD):c.8669-2A>T
|
rs794727770
|
|
NM_004006.3(DMD):c.8707C>T (p.Leu2903Phe)
|
rs1040153805
|
|
NM_004006.3(DMD):c.8731del (p.Val2911fs)
|
rs1603223025
|
|
NM_004006.3(DMD):c.8744G>A (p.Trp2915Ter)
|
rs1603222922
|
|
NM_004006.3(DMD):c.8746del (p.Glu2916fs)
|
rs1603222897
|
|
NM_004006.3(DMD):c.875C>G (p.Pro292Arg)
|
rs915965687
|
|
NM_004006.3(DMD):c.8797del (p.Glu2934fs)
|
rs1603222574
|
|
NM_004006.3(DMD):c.8817del (p.Gln2940fs)
|
rs1603222424
|
|
NM_004006.3(DMD):c.8923del (p.Leu2975fs)
|
rs1603221854
|
|
NM_004006.3(DMD):c.8937+1G>C
|
rs1556656077
|
|
NM_004006.3(DMD):c.9022C>T (p.Gln3008Ter)
|
rs1602937974
|
|
NM_004006.3(DMD):c.9085_9086insA (p.Val3029fs)
|
rs1602056443
|
|
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter)
|
rs2148492200
|
|
NM_004006.3(DMD):c.9189_9190del (p.Arg3063fs)
|
rs1601864055
|
|
NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)
|
rs2148296981
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter)
|
rs2147649257
|
|
NM_004006.3(DMD):c.9269_9270del (p.Glu3090fs)
|
rs1603253563
|
|
NM_004006.3(DMD):c.9281_9286+2del
|
rs2147648412
|
|
NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs)
|
rs2147648529
|
|
NM_004006.3(DMD):c.9287-1G>A
|
rs2147071925
|
|
NM_004006.3(DMD):c.93+1G>T
|
rs886042604
|
|
NM_004006.3(DMD):c.9344del (p.Leu3115fs)
|
rs1602947628
|
|
NM_004006.3(DMD):c.9362-1G>C
|
rs2148593122
|
|
NM_004006.3(DMD):c.9380C>A (p.Ser3127Ter)
|
rs1602730254
|
|
NM_004006.3(DMD):c.93_93+14del
|
rs1602765633
|
|
NM_004006.3(DMD):c.94-1G>T
|
rs863225016
|
|
NM_004006.3(DMD):c.94-2A>T
|
rs1603448428
|
|
NM_004006.3(DMD):c.9433A>G (p.Met3145Val)
|
rs775080631
|
|
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter)
|
rs2148591514
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
NM_004006.3(DMD):c.9563+1G>T
|
rs886043989
|
|
NM_004006.3(DMD):c.9564-2A>G
|
rs1602696519
|
|
NM_004006.3(DMD):c.9564-536A>C
|
rs918777788
|
|
NM_004006.3(DMD):c.961-1G>A
|
rs1602469384
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs)
|
rs2148564018
|
|
NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs)
|
rs2148563899
|
|
NM_004006.3(DMD):c.9649+2dup
|
rs1602695597
|
|
NM_004006.3(DMD):c.9649+5G>C
|
rs1602695527
|
|
NM_004006.3(DMD):c.971del (p.Ala324fs)
|
rs1602469251
|
|
NM_004006.3(DMD):c.9730del (p.Ile3244fs)
|
rs1602669026
|
|
NM_004006.3(DMD):c.9748G>A (p.Glu3250Lys)
|
rs1602668870
|
|
NM_004006.3(DMD):c.9767del (p.Gly3256fs)
|
rs398124103
|
|
NM_004006.3(DMD):c.9808-2A>G
|
rs1602456486
|
|
NM_004006.3(DMD):c.9808-2A>T
|
rs1602456486
|
|
NM_004006.3(DMD):c.9853dup (p.Met3285fs)
|
rs2148335170
|
|
NM_004006.3(DMD):c.9868del (p.Gln3290fs)
|
rs1602455747
|
|
NM_004006.3(DMD):c.9887_9908del (p.Pro3296fs)
|
rs1602455302
|
|
NM_004006.3(DMD):c.9906del (p.Ala3303fs)
|
rs2148334397
|
|
NM_004006.3(DMD):c.9950_9951del (p.Lys3317fs)
|
rs1602454747
|
|
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu)
|
rs1602454639
|
|
NM_004006.3(DMD):c.9971dup (p.Arg3325fs)
|
rs1602454605
|
|
NM_004006.3(DMD):c.9974+2T>C
|
rs2148333619
|
|
NM_004006.3(DMD):c.998C>A (p.Ser333Ter)
|
rs1602468968
|
|