NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.-75G>A
|
rs778938887
|
0.00009
|
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)
|
rs876657778
|
0.00009
|
NM_004006.3(DMD):c.961-4del
|
rs759592382
|
0.00009
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
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.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)
|
rs144718274
|
0.00006
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
NM_004006.3(DMD):c.1654G>T (p.Val552Phe)
|
rs748690103
|
0.00005
|
NM_004006.3(DMD):c.2110C>T (p.Pro704Ser)
|
rs1060502638
|
0.00005
|
NM_004006.3(DMD):c.2296A>G (p.Ile766Val)
|
rs372490563
|
0.00005
|
NM_004006.3(DMD):c.2362G>T (p.Val788Leu)
|
rs756267575
|
0.00005
|
NM_004006.3(DMD):c.254A>G (p.Gln85Arg)
|
rs1297662991
|
0.00005
|
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)
|
rs199808421
|
0.00005
|
NM_004006.3(DMD):c.6614+5G>A
|
rs1286238077
|
0.00005
|
NM_004006.3(DMD):c.8425C>T (p.Arg2809Cys)
|
rs143389016
|
0.00005
|
NM_004006.3(DMD):c.923C>A (p.Thr308Asn)
|
rs145064612
|
0.00005
|
NM_004006.3(DMD):c.9716A>G (p.His3239Arg)
|
rs765865134
|
0.00005
|
NM_004006.3(DMD):c.10576C>T (p.Arg3526Cys)
|
rs905145891
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.3713A>G (p.Lys1238Arg)
|
rs150333718
|
0.00004
|
NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg)
|
rs146880270
|
0.00004
|
NM_004006.3(DMD):c.4205A>G (p.Asp1402Gly)
|
rs377043643
|
0.00004
|
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser)
|
rs910214749
|
0.00004
|
NM_004006.3(DMD):c.4467A>C (p.Glu1489Asp)
|
rs373162382
|
0.00004
|
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)
|
rs144717862
|
0.00004
|
NM_004006.3(DMD):c.5684A>T (p.Asp1895Val)
|
rs376202643
|
0.00004
|
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)
|
rs142128738
|
0.00004
|
NM_004006.3(DMD):c.9563C>T (p.Thr3188Met)
|
rs1026613996
|
0.00004
|
NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn)
|
rs766599250
|
0.00003
|
NM_004006.3(DMD):c.10955C>G (p.Thr3652Arg)
|
rs1131691998
|
0.00003
|
NM_004006.3(DMD):c.1183C>T (p.Arg395Trp)
|
rs780356433
|
0.00003
|
NM_004006.3(DMD):c.1220T>C (p.Ile407Thr)
|
rs200637510
|
0.00003
|
NM_004006.3(DMD):c.1988C>T (p.Ala663Val)
|
rs41309715
|
0.00003
|
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)
|
rs762475657
|
0.00003
|
NM_004006.3(DMD):c.2518C>G (p.Gln840Glu)
|
rs398123892
|
0.00003
|
NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr)
|
rs748123444
|
0.00003
|
NM_004006.3(DMD):c.4094T>C (p.Leu1365Pro)
|
rs752699296
|
0.00003
|
NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu)
|
rs748769566
|
0.00003
|
NM_004006.3(DMD):c.4563G>A (p.Met1521Ile)
|
rs138984555
|
0.00003
|
NM_004006.3(DMD):c.4924T>A (p.Leu1642Met)
|
rs376720373
|
0.00003
|
NM_004006.3(DMD):c.5544G>T (p.Lys1848Asn)
|
rs369623931
|
0.00003
|
NM_004006.3(DMD):c.6323G>A (p.Arg2108His)
|
rs1291065884
|
0.00003
|
NM_004006.3(DMD):c.7553A>G (p.Gln2518Arg)
|
rs1242923274
|
0.00003
|
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu)
|
rs781748062
|
0.00003
|
NM_004006.3(DMD):c.9073A>C (p.Lys3025Gln)
|
rs745982132
|
0.00003
|
NM_004006.3(DMD):c.9265A>T (p.Thr3089Ser)
|
rs776860944
|
0.00003
|
NM_004006.3(DMD):c.9649T>C (p.Tyr3217His)
|
rs766981643
|
0.00003
|
NM_004006.3(DMD):c.104A>C (p.Gln35Pro)
|
rs1477107648
|
0.00002
|
NM_004006.3(DMD):c.10505A>C (p.Glu3502Ala)
|
rs773880226
|
0.00002
|
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val)
|
rs367748290
|
0.00002
|
NM_004006.3(DMD):c.10683G>T (p.Glu3561Asp)
|
rs374369906
|
0.00002
|
NM_004006.3(DMD):c.10797+6G>A
|
rs965185463
|
0.00002
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
NM_004006.3(DMD):c.10900A>G (p.Ser3634Gly)
|
rs941558150
|
0.00002
|
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg)
|
rs1216968523
|
0.00002
|
NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala)
|
rs768016083
|
0.00002
|
NM_004006.3(DMD):c.1431G>T (p.Glu477Asp)
|
rs1003165905
|
0.00002
|
NM_004006.3(DMD):c.1432C>T (p.Pro478Ser)
|
rs375337020
|
0.00002
|
NM_004006.3(DMD):c.1482+3A>G
|
rs368825354
|
0.00002
|
NM_004006.3(DMD):c.1637G>C (p.Trp546Ser)
|
rs1057518962
|
0.00002
|
NM_004006.3(DMD):c.2233C>G (p.Pro745Ala)
|
rs1435295333
|
0.00002
|
NM_004006.3(DMD):c.2311G>C (p.Ala771Pro)
|
rs776275581
|
0.00002
|
NM_004006.3(DMD):c.2431C>T (p.Arg811Trp)
|
rs781482969
|
0.00002
|
NM_004006.3(DMD):c.2726C>T (p.Ala909Val)
|
rs370014420
|
0.00002
|
NM_004006.3(DMD):c.3029C>T (p.Ala1010Val)
|
rs780896933
|
0.00002
|
NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe)
|
rs794727380
|
0.00002
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
NM_004006.3(DMD):c.3619G>A (p.Ala1207Thr)
|
rs1448639542
|
0.00002
|
NM_004006.3(DMD):c.3677C>G (p.Ala1226Gly)
|
rs752521629
|
0.00002
|
NM_004006.3(DMD):c.367G>A (p.Val123Ile)
|
rs757220688
|
0.00002
|
NM_004006.3(DMD):c.3912G>C (p.Glu1304Asp)
|
rs764748376
|
0.00002
|
NM_004006.3(DMD):c.3971G>A (p.Arg1324His)
|
rs768990357
|
0.00002
|
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg)
|
rs371601285
|
0.00002
|
NM_004006.3(DMD):c.4300A>G (p.Lys1434Glu)
|
rs771250421
|
0.00002
|
NM_004006.3(DMD):c.446G>A (p.Arg149His)
|
rs771307588
|
0.00002
|
NM_004006.3(DMD):c.4632A>T (p.Arg1544Ser)
|
rs780508132
|
0.00002
|
NM_004006.3(DMD):c.4728G>C (p.Met1576Ile)
|
rs757160024
|
0.00002
|
NM_004006.3(DMD):c.4745T>C (p.Val1582Ala)
|
rs147231219
|
0.00002
|
NM_004006.3(DMD):c.4768A>G (p.Thr1590Ala)
|
rs1419816532
|
0.00002
|
NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe)
|
rs398123975
|
0.00002
|
NM_004006.3(DMD):c.5047A>G (p.Thr1683Ala)
|
rs1057515873
|
0.00002
|
NM_004006.3(DMD):c.5144A>G (p.Asp1715Gly)
|
rs151109270
|
0.00002
|
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser)
|
rs373428963
|
0.00002
|
NM_004006.3(DMD):c.5263C>T (p.Pro1755Ser)
|
rs1057515872
|
0.00002
|
NM_004006.3(DMD):c.5390T>C (p.Leu1797Pro)
|
rs750303298
|
0.00002
|
NM_004006.3(DMD):c.551A>G (p.Asn184Ser)
|
rs1331056348
|
0.00002
|
NM_004006.3(DMD):c.5864G>A (p.Arg1955His)
|
rs200455300
|
0.00002
|
NM_004006.3(DMD):c.5923-4C>G
|
rs780118536
|
0.00002
|
NM_004006.3(DMD):c.6053T>G (p.Leu2018Arg)
|
rs768910735
|
0.00002
|
NM_004006.3(DMD):c.6068T>G (p.Leu2023Arg)
|
rs1060502662
|
0.00002
|
NM_004006.3(DMD):c.6101A>T (p.Gln2034Leu)
|
rs144754029
|
0.00002
|
NM_004006.3(DMD):c.6238C>A (p.Gln2080Lys)
|
rs1340785309
|
0.00002
|
NM_004006.3(DMD):c.6262G>C (p.Val2088Leu)
|
rs1215888256
|
0.00002
|
NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp)
|
rs770711808
|
0.00002
|
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln)
|
rs201818335
|
0.00002
|
NM_004006.3(DMD):c.6787C>T (p.Arg2263Cys)
|
rs200045725
|
0.00002
|
NM_004006.3(DMD):c.6957A>C (p.Gln2319His)
|
rs1603514135
|
0.00002
|
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)
|
rs765207227
|
0.00002
|
NM_004006.3(DMD):c.746A>G (p.Gln249Arg)
|
rs1212242832
|
0.00002
|
NM_004006.3(DMD):c.7516A>G (p.Ile2506Val)
|
rs1048379601
|
0.00002
|
NM_004006.3(DMD):c.8374A>G (p.Lys2792Glu)
|
rs794727766
|
0.00002
|
NM_004006.3(DMD):c.8937+5C>T
|
rs752551008
|
0.00002
|
NM_004006.3(DMD):c.9130G>A (p.Asp3044Asn)
|
rs754722195
|
0.00002
|
NM_004006.3(DMD):c.9584G>A (p.Arg3195His)
|
rs756958090
|
0.00002
|
NM_004006.3(DMD):c.9695G>A (p.Arg3232His)
|
rs751095907
|
0.00002
|
NM_004006.3(DMD):c.10006A>G (p.Ile3336Val)
|
rs756953567
|
0.00001
|
NM_004006.3(DMD):c.10086G>A (p.Pro3362=)
|
rs201288384
|
0.00001
|
NM_004006.3(DMD):c.10159G>T (p.Ala3387Ser)
|
rs978406887
|
0.00001
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
NM_004006.3(DMD):c.10306C>T (p.Arg3436Cys)
|
rs768314745
|
0.00001
|
NM_004006.3(DMD):c.10352A>G (p.Asn3451Ser)
|
rs1201177282
|
0.00001
|
NM_004006.3(DMD):c.10466G>A (p.Arg3489His)
|
rs1297635532
|
0.00001
|
NM_004006.3(DMD):c.1047A>T (p.Glu349Asp)
|
rs1044325754
|
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.10711C>T (p.Arg3571Cys)
|
rs1221893618
|
0.00001
|
NM_004006.3(DMD):c.10864G>A (p.Asp3622Asn)
|
rs1470608087
|
0.00001
|
NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro)
|
rs990606875
|
0.00001
|
NM_004006.3(DMD):c.1112A>G (p.Asp371Gly)
|
rs770239678
|
0.00001
|
NM_004006.3(DMD):c.1219A>G (p.Ile407Val)
|
rs1463021278
|
0.00001
|
NM_004006.3(DMD):c.125G>A (p.Ser42Asn)
|
rs1557084218
|
0.00001
|
NM_004006.3(DMD):c.1340G>T (p.Arg447Ile)
|
rs766841315
|
0.00001
|
NM_004006.3(DMD):c.1348A>G (p.Met450Val)
|
rs750767440
|
0.00001
|
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)
|
rs863224981
|
0.00001
|
NM_004006.3(DMD):c.1483G>A (p.Val495Met)
|
rs754176290
|
0.00001
|
NM_004006.3(DMD):c.1523A>G (p.Asn508Ser)
|
rs886044658
|
0.00001
|
NM_004006.3(DMD):c.1532C>T (p.Thr511Ile)
|
rs1295185756
|
0.00001
|
NM_004006.3(DMD):c.1567G>C (p.Asp523His)
|
rs754640902
|
0.00001
|
NM_004006.3(DMD):c.1604T>C (p.Val535Ala)
|
rs770149373
|
0.00001
|
NM_004006.3(DMD):c.1616G>A (p.Arg539Gln)
|
rs1057515876
|
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.1712T>C (p.Phe571Ser)
|
rs1326680081
|
0.00001
|
NM_004006.3(DMD):c.1739A>G (p.Asp580Gly)
|
rs1246969208
|
0.00001
|
NM_004006.3(DMD):c.1758C>A (p.His586Gln)
|
rs1229933072
|
0.00001
|
NM_004006.3(DMD):c.1759A>G (p.Thr587Ala)
|
rs1344492096
|
0.00001
|
NM_004006.3(DMD):c.1821A>T (p.Lys607Asn)
|
rs1449874137
|
0.00001
|
NM_004006.3(DMD):c.1825G>T (p.Asp609Tyr)
|
rs761724460
|
0.00001
|
NM_004006.3(DMD):c.191A>C (p.Lys64Thr)
|
rs1482045034
|
0.00001
|
NM_004006.3(DMD):c.2017C>G (p.Gln673Glu)
|
rs128626232
|
0.00001
|
NM_004006.3(DMD):c.2032C>G (p.Gln678Glu)
|
rs398123872
|
0.00001
|
NM_004006.3(DMD):c.2079G>T (p.Gln693His)
|
rs761441684
|
0.00001
|
NM_004006.3(DMD):c.2090A>G (p.Lys697Arg)
|
rs769193495
|
0.00001
|
NM_004006.3(DMD):c.2114C>G (p.Pro705Arg)
|
rs771176356
|
0.00001
|
NM_004006.3(DMD):c.2134A>G (p.Arg712Gly)
|
rs1294221734
|
0.00001
|
NM_004006.3(DMD):c.2146G>C (p.Val716Leu)
|
rs886043081
|
0.00001
|
NM_004006.3(DMD):c.2303G>A (p.Arg768Gln)
|
rs769377296
|
0.00001
|
NM_004006.3(DMD):c.2312C>T (p.Ala771Val)
|
rs1245604423
|
0.00001
|
NM_004006.3(DMD):c.2360T>A (p.Leu787Gln)
|
rs757260917
|
0.00001
|
NM_004006.3(DMD):c.2365G>A (p.Glu789Lys)
|
rs763844939
|
0.00001
|
NM_004006.3(DMD):c.2399G>A (p.Ser800Asn)
|
rs991360358
|
0.00001
|
NM_004006.3(DMD):c.2408A>G (p.Gln803Arg)
|
rs769702449
|
0.00001
|
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)
|
rs778811645
|
0.00001
|
NM_004006.3(DMD):c.247G>A (p.Val83Ile)
|
rs1358774744
|
0.00001
|
NM_004006.3(DMD):c.2492A>T (p.Asn831Ile)
|
rs2042985183
|
0.00001
|
NM_004006.3(DMD):c.2501C>G (p.Ala834Gly)
|
rs759157383
|
0.00001
|
NM_004006.3(DMD):c.2530C>G (p.Gln844Glu)
|
rs768892830
|
0.00001
|
NM_004006.3(DMD):c.2570C>T (p.Pro857Leu)
|
rs1302325394
|
0.00001
|
NM_004006.3(DMD):c.2572A>T (p.Thr858Ser)
|
rs752670585
|
0.00001
|
NM_004006.3(DMD):c.2581T>A (p.Ser861Thr)
|
rs398123897
|
0.00001
|
NM_004006.3(DMD):c.260A>G (p.Asn87Ser)
|
rs1452900149
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.2628A>T (p.Glu876Asp)
|
rs869025382
|
0.00001
|
NM_004006.3(DMD):c.2635C>T (p.Arg879Trp)
|
rs1603634614
|
0.00001
|
NM_004006.3(DMD):c.264+3A>G
|
rs748003531
|
0.00001
|
NM_004006.3(DMD):c.2645A>T (p.Asp882Val)
|
rs228406
|
0.00001
|
NM_004006.3(DMD):c.2656C>G (p.Gln886Glu)
|
rs754893725
|
0.00001
|
NM_004006.3(DMD):c.2729A>T (p.Asp910Val)
|
rs1469818959
|
0.00001
|
NM_004006.3(DMD):c.277A>G (p.Asn93Asp)
|
rs398123907
|
0.00001
|
NM_004006.3(DMD):c.2785G>A (p.Glu929Lys)
|
rs772679497
|
0.00001
|
NM_004006.3(DMD):c.284G>T (p.Gly95Val)
|
rs1381812538
|
0.00001
|
NM_004006.3(DMD):c.2938G>A (p.Gly980Arg)
|
rs374102077
|
0.00001
|
NM_004006.3(DMD):c.293A>G (p.Asp98Gly)
|
rs772375271
|
0.00001
|
NM_004006.3(DMD):c.2949+4dup
|
rs886043048
|
0.00001
|
NM_004006.3(DMD):c.2957A>G (p.Gln986Arg)
|
rs1386571829
|
0.00001
|
NM_004006.3(DMD):c.2972A>G (p.Glu991Gly)
|
rs747374618
|
0.00001
|
NM_004006.3(DMD):c.3004A>G (p.Thr1002Ala)
|
rs1244241099
|
0.00001
|
NM_004006.3(DMD):c.3029C>A (p.Ala1010Glu)
|
rs780896933
|
0.00001
|
NM_004006.3(DMD):c.3031C>A (p.Pro1011Thr)
|
rs982781720
|
0.00001
|
NM_004006.3(DMD):c.3093G>T (p.Lys1031Asn)
|
rs1220406312
|
0.00001
|
NM_004006.3(DMD):c.3098C>T (p.Ser1033Phe)
|
rs377415288
|
0.00001
|
NM_004006.3(DMD):c.3119G>T (p.Cys1040Phe)
|
rs1603634202
|
0.00001
|
NM_004006.3(DMD):c.3134A>T (p.Glu1045Val)
|
rs373495745
|
0.00001
|
NM_004006.3(DMD):c.3163-14G>A
|
rs1039281632
|
0.00001
|
NM_004006.3(DMD):c.3272G>A (p.Cys1091Tyr)
|
rs1402060578
|
0.00001
|
NM_004006.3(DMD):c.3292A>G (p.Ile1098Val)
|
rs1215676467
|
0.00001
|
NM_004006.3(DMD):c.3311G>C (p.Ser1104Thr)
|
rs1009754942
|
0.00001
|
NM_004006.3(DMD):c.3361C>T (p.Pro1121Ser)
|
rs150653420
|
0.00001
|
NM_004006.3(DMD):c.3403A>G (p.Asn1135Asp)
|
rs753384771
|
0.00001
|
NM_004006.3(DMD):c.3415G>A (p.Asp1139Asn)
|
rs1464988987
|
0.00001
|
NM_004006.3(DMD):c.3431A>C (p.Gln1144Pro)
|
rs748029344
|
0.00001
|
NM_004006.3(DMD):c.3461G>T (p.Gly1154Val)
|
rs774624660
|
0.00001
|
NM_004006.3(DMD):c.3476C>T (p.Thr1159Ile)
|
rs757041202
|
0.00001
|
NM_004006.3(DMD):c.3482G>A (p.Ser1161Asn)
|
rs371273141
|
0.00001
|
NM_004006.3(DMD):c.3488A>G (p.Gln1163Arg)
|
rs1603633866
|
0.00001
|
NM_004006.3(DMD):c.3492A>T (p.Lys1164Asn)
|
rs1032762656
|
0.00001
|
NM_004006.3(DMD):c.3508C>T (p.His1170Tyr)
|
rs1210629851
|
0.00001
|
NM_004006.3(DMD):c.3512A>C (p.Glu1171Ala)
|
rs1569563277
|
0.00001
|
NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser)
|
rs886042862
|
0.00001
|
NM_004006.3(DMD):c.376A>G (p.Asn126Asp)
|
rs756725662
|
0.00001
|
NM_004006.3(DMD):c.397C>G (p.Gln133Glu)
|
rs1422155550
|
0.00001
|
NM_004006.3(DMD):c.3992C>T (p.Thr1331Ile)
|
rs1485535759
|
0.00001
|
NM_004006.3(DMD):c.399A>T (p.Gln133His)
|
rs1358899513
|
0.00001
|
NM_004006.3(DMD):c.4040T>A (p.Phe1347Tyr)
|
rs1466636716
|
0.00001
|
NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys)
|
rs1278483491
|
0.00001
|
NM_004006.3(DMD):c.4064A>G (p.His1355Arg)
|
rs1422809613
|
0.00001
|
NM_004006.3(DMD):c.4202T>C (p.Val1401Ala)
|
rs751046843
|
0.00001
|
NM_004006.3(DMD):c.4207G>A (p.Ala1403Thr)
|
rs762615933
|
0.00001
|
NM_004006.3(DMD):c.4208C>T (p.Ala1403Val)
|
rs1267618995
|
0.00001
|
NM_004006.3(DMD):c.429G>T (p.Trp143Cys)
|
rs763567086
|
0.00001
|
NM_004006.3(DMD):c.4328A>G (p.Gln1443Arg)
|
rs749903671
|
0.00001
|
NM_004006.3(DMD):c.4336G>A (p.Val1446Ile)
|
rs756852420
|
0.00001
|
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp)
|
rs1462655612
|
0.00001
|
NM_004006.3(DMD):c.4429A>T (p.Ile1477Phe)
|
rs376143404
|
0.00001
|
NM_004006.3(DMD):c.4480G>A (p.Glu1494Lys)
|
rs369118010
|
0.00001
|
NM_004006.3(DMD):c.448A>C (p.Asn150His)
|
rs1341299449
|
0.00001
|
NM_004006.3(DMD):c.4510C>T (p.His1504Tyr)
|
rs1469008607
|
0.00001
|
NM_004006.3(DMD):c.4561A>G (p.Met1521Val)
|
rs757350813
|
0.00001
|
NM_004006.3(DMD):c.4573A>T (p.Thr1525Ser)
|
rs751320057
|
0.00001
|
NM_004006.3(DMD):c.458A>G (p.Gln153Arg)
|
rs749488822
|
0.00001
|
NM_004006.3(DMD):c.4621C>A (p.Leu1541Ile)
|
rs777614188
|
0.00001
|
NM_004006.3(DMD):c.4628A>G (p.Glu1543Gly)
|
rs746681404
|
0.00001
|
NM_004006.3(DMD):c.4720C>T (p.Arg1574Cys)
|
rs781465089
|
0.00001
|
NM_004006.3(DMD):c.4765G>A (p.Ala1589Thr)
|
rs770347305
|
0.00001
|
NM_004006.3(DMD):c.4910C>T (p.Ala1637Val)
|
rs1285159164
|
0.00001
|
NM_004006.3(DMD):c.5000C>T (p.Ala1667Val)
|
rs759762111
|
0.00001
|
NM_004006.3(DMD):c.5007G>C (p.Glu1669Asp)
|
rs774454385
|
0.00001
|
NM_004006.3(DMD):c.5074A>G (p.Thr1692Ala)
|
rs367674503
|
0.00001
|
NM_004006.3(DMD):c.5123A>G (p.Lys1708Arg)
|
rs775302077
|
0.00001
|
NM_004006.3(DMD):c.5129C>T (p.Pro1710Leu)
|
rs865938529
|
0.00001
|
NM_004006.3(DMD):c.5146G>A (p.Val1716Met)
|
rs748814615
|
0.00001
|
NM_004006.3(DMD):c.5155C>T (p.Arg1719Cys)
|
rs1365170508
|
0.00001
|
NM_004006.3(DMD):c.5156G>A (p.Arg1719His)
|
rs1273883368
|
0.00001
|
NM_004006.3(DMD):c.5188A>G (p.Lys1730Glu)
|
rs1473732566
|
0.00001
|
NM_004006.3(DMD):c.5233C>T (p.Arg1745Cys)
|
rs1326450715
|
0.00001
|
NM_004006.3(DMD):c.5236G>A (p.Gly1746Ser)
|
rs1305126237
|
0.00001
|
NM_004006.3(DMD):c.5277G>T (p.Glu1759Asp)
|
rs761491343
|
0.00001
|
NM_004006.3(DMD):c.5339T>C (p.Leu1780Ser)
|
rs966393024
|
0.00001
|
NM_004006.3(DMD):c.5368A>G (p.Ile1790Val)
|
rs886043883
|
0.00001
|
NM_004006.3(DMD):c.5447T>C (p.Met1816Thr)
|
rs754474379
|
0.00001
|
NM_004006.3(DMD):c.5518G>C (p.Asp1840His)
|
rs905571950
|
0.00001
|
NM_004006.3(DMD):c.5525G>C (p.Arg1842Thr)
|
rs376011686
|
0.00001
|
NM_004006.3(DMD):c.5557C>G (p.Leu1853Val)
|
rs949836768
|
0.00001
|
NM_004006.3(DMD):c.5567C>T (p.Thr1856Ile)
|
rs148246460
|
0.00001
|
NM_004006.3(DMD):c.5606G>C (p.Arg1869Thr)
|
rs1437145731
|
0.00001
|
NM_004006.3(DMD):c.5741A>G (p.Glu1914Gly)
|
rs985546923
|
0.00001
|
NM_004006.3(DMD):c.5749C>T (p.Arg1917Trp)
|
rs763893272
|
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.5788C>T (p.Arg1930Cys)
|
rs1295144399
|
0.00001
|
NM_004006.3(DMD):c.581A>G (p.Gln194Arg)
|
rs1458091604
|
0.00001
|
NM_004006.3(DMD):c.5876T>C (p.Ile1959Thr)
|
rs1306182225
|
0.00001
|
NM_004006.3(DMD):c.5883C>A (p.Ser1961Arg)
|
rs1217612438
|
0.00001
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004006.3(DMD):c.5946G>A (p.Met1982Ile)
|
rs1241760732
|
0.00001
|
NM_004006.3(DMD):c.5963A>G (p.Asp1988Gly)
|
rs754876601
|
0.00001
|
NM_004006.3(DMD):c.5968C>T (p.Pro1990Ser)
|
rs1343502927
|
0.00001
|
NM_004006.3(DMD):c.5969C>T (p.Pro1990Leu)
|
rs961227665
|
0.00001
|
NM_004006.3(DMD):c.5986G>A (p.Val1996Met)
|
rs2097556758
|
0.00001
|
NM_004006.3(DMD):c.6028G>T (p.Ala2010Ser)
|
rs72468613
|
0.00001
|
NM_004006.3(DMD):c.602A>T (p.Asn201Ile)
|
rs1030277417
|
0.00001
|
NM_004006.3(DMD):c.6083T>C (p.Phe2028Ser)
|
rs1289456469
|
0.00001
|
NM_004006.3(DMD):c.6092T>C (p.Leu2031Pro)
|
rs886043520
|
0.00001
|
NM_004006.3(DMD):c.6120T>A (p.Asn2040Lys)
|
rs1409711434
|
0.00001
|
NM_004006.3(DMD):c.6170G>T (p.Ser2057Ile)
|
rs1269996314
|
0.00001
|
NM_004006.3(DMD):c.6173A>G (p.Lys2058Arg)
|
rs1326979286
|
0.00001
|
NM_004006.3(DMD):c.6196G>A (p.Ala2066Thr)
|
rs1468473458
|
0.00001
|
NM_004006.3(DMD):c.6431A>T (p.Tyr2144Phe)
|
rs1569551376
|
0.00001
|
NM_004006.3(DMD):c.6436A>C (p.Lys2146Gln)
|
rs774219434
|
0.00001
|
NM_004006.3(DMD):c.6494C>A (p.Thr2165Asn)
|
rs768712703
|
0.00001
|
NM_004006.3(DMD):c.6614+4G>A
|
rs1475894426
|
0.00001
|
NM_004006.3(DMD):c.6614+6G>A
|
rs750175070
|
0.00001
|
NM_004006.3(DMD):c.6713T>C (p.Leu2238Pro)
|
rs1263279166
|
0.00001
|
NM_004006.3(DMD):c.682A>G (p.Ile228Val)
|
rs904314683
|
0.00001
|
NM_004006.3(DMD):c.683T>A (p.Ile228Asn)
|
rs886043430
|
0.00001
|
NM_004006.3(DMD):c.6968T>C (p.Leu2323Pro)
|
rs747847667
|
0.00001
|
NM_004006.3(DMD):c.6973C>A (p.Gln2325Lys)
|
rs781054741
|
0.00001
|
NM_004006.3(DMD):c.697A>G (p.Thr233Ala)
|
rs1429767974
|
0.00001
|
NM_004006.3(DMD):c.7018C>A (p.Leu2340Met)
|
rs1189846429
|
0.00001
|
NM_004006.3(DMD):c.703C>A (p.Leu235Ile)
|
rs200177107
|
0.00001
|
NM_004006.3(DMD):c.7065C>A (p.Asn2355Lys)
|
rs759570455
|
0.00001
|
NM_004006.3(DMD):c.7112C>A (p.Ala2371Glu)
|
rs767961100
|
0.00001
|
NM_004006.3(DMD):c.711A>C (p.Gln237His)
|
rs778632674
|
0.00001
|
NM_004006.3(DMD):c.7124A>T (p.Lys2375Ile)
|
rs760048714
|
0.00001
|
NM_004006.3(DMD):c.7150T>C (p.Ser2384Pro)
|
rs1351313240
|
0.00001
|
NM_004006.3(DMD):c.7273C>T (p.Pro2425Ser)
|
rs1318139017
|
0.00001
|
NM_004006.3(DMD):c.7348G>C (p.Val2450Leu)
|
rs1348131883
|
0.00001
|
NM_004006.3(DMD):c.7375C>G (p.Leu2459Val)
|
rs867040444
|
0.00001
|
NM_004006.3(DMD):c.739G>A (p.Ala247Thr)
|
rs1468818043
|
0.00001
|
NM_004006.3(DMD):c.740C>G (p.Ala247Gly)
|
rs767559999
|
0.00001
|
NM_004006.3(DMD):c.7499T>C (p.Val2500Ala)
|
rs867197764
|
0.00001
|
NM_004006.3(DMD):c.74T>C (p.Val25Ala)
|
rs886039061
|
0.00001
|
NM_004006.3(DMD):c.7501G>T (p.Gly2501Cys)
|
rs1240812601
|
0.00001
|
NM_004006.3(DMD):c.7561G>A (p.Glu2521Lys)
|
rs1569308250
|
0.00001
|
NM_004006.3(DMD):c.7570C>T (p.Arg2524Cys)
|
rs886043732
|
0.00001
|
NM_004006.3(DMD):c.7652C>T (p.Thr2551Met)
|
rs778691311
|
0.00001
|
NM_004006.3(DMD):c.7795G>A (p.Ala2599Thr)
|
rs1569220550
|
0.00001
|
NM_004006.3(DMD):c.7993A>G (p.Asn2665Asp)
|
rs767634310
|
0.00001
|
NM_004006.3(DMD):c.8063A>G (p.His2688Arg)
|
rs1017255301
|
0.00001
|
NM_004006.3(DMD):c.8072T>C (p.Leu2691Pro)
|
rs748485762
|
0.00001
|
NM_004006.3(DMD):c.80C>T (p.Ala27Val)
|
rs763407275
|
0.00001
|
NM_004006.3(DMD):c.8129C>G (p.Thr2710Arg)
|
rs2078922316
|
0.00001
|
NM_004006.3(DMD):c.8140G>A (p.Val2714Ile)
|
rs1231632354
|
0.00001
|
NM_004006.3(DMD):c.8273A>T (p.Asn2758Ile)
|
rs1298733875
|
0.00001
|
NM_004006.3(DMD):c.82C>G (p.Gln28Glu)
|
rs1477536019
|
0.00001
|
NM_004006.3(DMD):c.831+5A>C
|
rs757088996
|
0.00001
|
NM_004006.3(DMD):c.836C>T (p.Thr279Met)
|
rs369135184
|
0.00001
|
NM_004006.3(DMD):c.839T>A (p.Val280Asp)
|
rs1160682035
|
0.00001
|
NM_004006.3(DMD):c.8417A>G (p.Gln2806Arg)
|
rs183999778
|
0.00001
|
NM_004006.3(DMD):c.8476G>C (p.Asp2826His)
|
rs778675531
|
0.00001
|
NM_004006.3(DMD):c.8488C>T (p.Arg2830Trp)
|
rs1569547242
|
0.00001
|
NM_004006.3(DMD):c.848C>T (p.Ala283Val)
|
rs754197682
|
0.00001
|
NM_004006.3(DMD):c.8581G>A (p.Val2861Ile)
|
rs768803843
|
0.00001
|
NM_004006.3(DMD):c.8605G>C (p.Val2869Leu)
|
rs2068037888
|
0.00001
|
NM_004006.3(DMD):c.8617C>G (p.Leu2873Val)
|
rs2068037393
|
0.00001
|
NM_004006.3(DMD):c.8628G>C (p.Gln2876His)
|
rs777817144
|
0.00001
|
NM_004006.3(DMD):c.8714G>A (p.Arg2905Gln)
|
rs267606433
|
0.00001
|
NM_004006.3(DMD):c.8745G>T (p.Trp2915Cys)
|
rs761750882
|
0.00001
|
NM_004006.3(DMD):c.8768C>G (p.Ala2923Gly)
|
rs1171983817
|
0.00001
|
NM_004006.3(DMD):c.8786T>C (p.Ile2929Thr)
|
rs1181907562
|
0.00001
|
NM_004006.3(DMD):c.8806C>T (p.Leu2936Phe)
|
rs146517753
|
0.00001
|
NM_004006.3(DMD):c.8858C>A (p.Ala2953Asp)
|
rs773941387
|
0.00001
|
NM_004006.3(DMD):c.8887G>A (p.Val2963Met)
|
rs756567967
|
0.00001
|
NM_004006.3(DMD):c.8937+6G>A
|
rs767509893
|
0.00001
|
NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu)
|
rs143925896
|
0.00001
|
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)
|
rs778961643
|
0.00001
|
NM_004006.3(DMD):c.9140C>T (p.Pro3047Leu)
|
rs1303381637
|
0.00001
|
NM_004006.3(DMD):c.9328A>G (p.Met3110Val)
|
rs1381984529
|
0.00001
|
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)
|
rs1319200626
|
0.00001
|
NM_004006.3(DMD):c.9694C>T (p.Arg3232Cys)
|
rs145030353
|
0.00001
|
NM_004006.3(DMD):c.981C>G (p.Asp327Glu)
|
rs1017929989
|
0.00001
|
NM_004006.3(DMD):c.984G>T (p.Lys328Asn)
|
rs1278090805
|
0.00001
|
NM_004006.3(DMD):c.9874A>G (p.Met3292Val)
|
rs886042871
|
0.00001
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NC_000023.10:g.(?_31139930)_(31140067_?)dup
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NC_000023.10:g.(?_31139940)_(31241248_?)dup
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NC_000023.10:g.(?_31140036)_(31152331_?)dup
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NC_000023.10:g.(?_31140036)_(31165655_?)dup
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NC_000023.10:g.(?_31140036)_(31191741_?)dup
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NC_000023.10:g.(?_31140036)_(31201041_?)dup
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NC_000023.10:g.(?_31140036)_(31227836_?)dup
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NC_000023.10:g.(?_31140036)_(31241258_?)dup
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NC_000023.10:g.(?_31140036)_(31279153_?)dup
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NC_000023.10:g.(?_31140036)_(31279781_?)dup
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NC_000023.10:g.(?_31140036)_(31341795_?)dup
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NC_000023.10:g.(?_31140036)_(31366771_?)dup
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NC_000023.10:g.(?_31140036)_(31497240_?)dup
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NC_000023.10:g.(?_31140036)_(31525590_?)dup
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NC_000023.10:g.(?_31140036)_(33229429_?)dup
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NC_000023.10:g.(?_31144739)_(31747885_?)dup
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NC_000023.10:g.(?_31152199)_(31241258_?)dup
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NC_000023.10:g.(?_31196039)_(31196097_?)del
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NC_000023.10:g.(?_31219364)_(31497240_?)dup
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NC_000023.10:g.(?_31222058)_(31986651_?)dup
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NC_000023.10:g.(?_31222068)_(31382270_?)dup
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NC_000023.10:g.(?_31241144)_(31241258_?)dup
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NC_000023.10:g.(?_31341695)_(31645999_?)dup
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NC_000023.10:g.(?_31366653)_(31496511_?)dup
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NC_000023.10:g.(?_31382270)_(31986651_?)dup
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NC_000023.10:g.(?_31496203)_(31525590_?)dup
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NC_000023.10:g.(?_31496203)_(31986651_?)dup
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NC_000023.10:g.(?_31514885)_(31525590_?)dup
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NC_000023.10:g.(?_31514885)_(31747885_?)dup
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NC_000023.10:g.(?_31514885)_(31838220_?)dup
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NC_000023.10:g.(?_31514885)_(31897527_?)dup
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NC_000023.10:g.(?_31514885)_(32430050_?)dup
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NC_000023.10:g.(?_31514895)_(32430040_?)dup
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NC_000023.10:g.(?_31627738)_(31747885_?)dup
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NC_000023.10:g.(?_31645770)_(31676281_?)dup
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NC_000023.10:g.(?_31697472)_(31838220_?)dup
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NC_000023.10:g.(?_31697472)_(31854956_?)dup
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NC_000023.10:g.(?_31697472)_(31986651_?)dup
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NC_000023.10:g.(?_31747728)_(31792329_?)dup
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NC_000023.10:g.(?_31792057)_(31947882_?)dup
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NC_000023.10:g.(?_31792067)_(31854946_?)dup
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NC_000023.10:g.(?_31854815)_(31854956_?)dup
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NC_000023.10:g.(?_31893285)_(31893510_?)dup
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NC_000023.10:g.(?_31893285)_(32383336_?)dup
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NC_000023.10:g.(?_31947693)_(32305838_?)dup
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NC_000023.10:g.(?_31947693)_(32614013_?)dup
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NC_000023.10:g.(?_31947703)_(32381085_?)dup
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NC_000023.10:g.(?_32235013)_(32305838_?)dup
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NC_000023.10:g.(?_32235013)_(32328413_?)dup
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NC_000023.10:g.(?_32235013)_(32383336_?)dup
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NC_000023.10:g.(?_32235013)_(32430050_?)dup
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NC_000023.10:g.(?_32235013)_(32867957_?)dup
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NC_000023.10:g.(?_32235013)_(33229429_?)dup
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NC_000023.10:g.(?_32305626)_(32632590_?)dup
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NC_000023.10:g.(?_32328179)_(32328413_?)dup
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NC_000023.10:g.(?_32328179)_(32486847_?)dup
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NC_000023.10:g.(?_32364040)_(32364217_?)del
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NC_000023.10:g.(?_32366503)_(32366665_?)dup
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NC_000023.10:g.(?_32379145)_(32472969_?)dup
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NC_000023.10:g.(?_32380885)_(32430050_?)dup
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NC_000023.10:g.(?_32380885)_(32591983_?)dup
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NC_000023.10:g.(?_32398617)_(32398808_?)dup
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NC_000023.10:g.(?_32404407)_(32669194_?)dup
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NC_000023.10:g.(?_32429849)_(32430346_?)dup
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NC_000023.10:g.(?_32429849)_(32503236_?)dup
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NC_000023.10:g.(?_32456338)_(32456527_?)dup
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NC_000023.10:g.(?_32456338)_(32519979_?)dup
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NC_000023.10:g.(?_32456338)_(33229429_?)dup
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NC_000023.10:g.(?_32456348)_(32841534_?)dup
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NC_000023.10:g.(?_32466553)_(32519979_?)dup
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NC_000023.10:g.(?_32466553)_(32663289_?)dup
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NC_000023.10:g.(?_32466553)_(32841967_?)dup
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NC_000023.10:g.(?_32472759)_(32584018_?)dup
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NC_000023.10:g.(?_32481536)_(32663289_?)dup
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NC_000023.10:g.(?_32482683)_(33229429_?)dup
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NC_000023.10:g.(?_32486595)_(32486847_?)del
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NC_000023.10:g.(?_32486595)_(32584018_?)dup
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NC_000023.10:g.(?_32503016)_(32509655_?)del
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NC_000023.10:g.(?_32519852)_(33229429_?)dup
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NC_000023.10:g.(?_32583799)_(32584018_?)dup
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NC_000023.10:g.(?_32591627)_(32614013_?)dup
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NC_000023.10:g.(?_32613854)_(32614013_?)dup
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NC_000023.10:g.(?_32613854)_(32867957_?)dup
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NC_000023.10:g.(?_32632400)_(32663289_?)dup
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NC_000023.10:g.(?_32632400)_(32841524_?)dup
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NC_000023.10:g.(?_32644118)_(32662245_?)del
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NC_000023.10:g.(?_32662229)_(32827748_?)dup
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NC_000023.10:g.(?_32827600)_33229483dup
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NC_000023.10:g.(?_32841402)_(33357392_?)dup
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NC_000023.10:g.(?_33032666)_(33229429_?)dup
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NC_000023.10:g.(?_33038246)_(33229429_?)dup
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NC_000023.10:g.(?_33038250)_(33229435_?)dup
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NC_000023.10:g.(?_33146244)_(33357402_?)dup
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NC_000023.10:g.(?_33192452)_(33357402_?)dup
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NC_000023.10:g.(?_33229379)_(33229429_?)dup
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NC_000023.11:g.(?_31121823)_(31134204_?)dup
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NC_000023.11:g.(?_31121823)_(31261664_?)dup
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NC_000023.11:g.(?_31121919)_(31348644_?)dup
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NC_000023.11:g.(?_31773950)_(31820093_?)dup
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NC_000023.11:g.(?_31929586)_(32545344_?)dup
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NC_000023.11:g.(?_32216906)_(32412219_?)dup
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NC_000023.11:g.(?_32216906)_(32442157_?)dup
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NC_000023.11:g.(?_32310072)_(32310286_?)dup
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NC_000023.11:g.(?_32442157)_(32565891_?)dup
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NC_000023.11:g.(?_32448446)_(32565891_?)dup
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NC_000023.11:g.(?_32644122)_(32809627_?)dup
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NC_000023.11:g.(?_32844773)_(32844870_?)dup
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NC_000023.11:g.(?_32844783)_(33211312_?)dup
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NC_000023.11:g.(?_32849718)_(32849830_?)dup
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NC_000023.11:g.(?_33020119)_(33020220_?)del
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NC_000023.11:g.(?_33020139)_(33211312_?)dup
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NC_000023.11:g.(?_33174335)_(33211366_?)dup
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NC_000023.11:g.(?_33211272)_(33211366_?)dup
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NM_004006.2(DMD):c.-54_649+10dup
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NM_004006.2(DMD):c.6439-?_8217+?dup
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NM_004006.3(DMD):c.10033C>G (p.Arg3345Gly)
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rs398123827
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NM_004006.3(DMD):c.10034G>C (p.Arg3345Pro)
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rs2041036250
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NM_004006.3(DMD):c.10056G>A (p.Met3352Ile)
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NM_004006.3(DMD):c.10056G>T (p.Met3352Ile)
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NM_004006.3(DMD):c.10066A>G (p.Met3356Val)
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rs2041033085
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NM_004006.3(DMD):c.10081A>G (p.Thr3361Ala)
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NM_004006.3(DMD):c.10085C>T (p.Pro3362Leu)
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rs1569423459
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NM_004006.3(DMD):c.10087_10098del (p.Thr3363_Gly3366del)
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rs2148292317
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NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)
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rs1060502613
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NM_004006.3(DMD):c.100A>G (p.Lys34Glu)
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rs1557084280
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NM_004006.3(DMD):c.10102G>T (p.Asp3368Tyr)
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rs2040832863
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NM_004006.3(DMD):c.10121A>C (p.Lys3374Thr)
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NM_004006.3(DMD):c.10123G>A (p.Val3375Ile)
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rs2040830883
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NM_004006.3(DMD):c.1015G>A (p.Val339Ile)
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rs886044093
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NM_004006.3(DMD):c.1015G>C (p.Val339Leu)
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NM_004006.3(DMD):c.1015G>T (p.Val339Leu)
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NM_004006.3(DMD):c.10174A>G (p.Met3392Val)
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rs2148290988
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NM_004006.3(DMD):c.10178G>C (p.Gly3393Ala)
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NM_004006.3(DMD):c.10195A>G (p.Thr3399Ala)
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NM_004006.3(DMD):c.10201T>G (p.Leu3401Val)
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NM_004006.3(DMD):c.10210G>T (p.Asp3404Tyr)
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NM_004006.3(DMD):c.10223+3del
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NM_004006.3(DMD):c.10223+5G>A
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NM_004006.3(DMD):c.10223+6T>G
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NM_004006.3(DMD):c.10224-10_10262+22del
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rs1602407871
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NM_004006.3(DMD):c.10228G>C (p.Val3410Leu)
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NM_004006.3(DMD):c.10228G>T (p.Val3410Phe)
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NM_004006.3(DMD):c.10232C>A (p.Thr3411Asn)
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rs1042981379
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NM_004006.3(DMD):c.10238T>A (p.Ile3413Asn)
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NM_004006.3(DMD):c.10259C>T (p.Ser3420Phe)
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rs398123836
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NM_004006.3(DMD):c.10260_10262+2dup
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NM_004006.3(DMD):c.10261G>A (p.Ala3421Thr)
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rs2040705871
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NM_004006.3(DMD):c.10262+7A>G
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NM_004006.3(DMD):c.10263-10_10263-9insGACTAATCACATTTTCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
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rs2148227773
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NM_004006.3(DMD):c.10263-6T>G
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rs2148227688
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NM_004006.3(DMD):c.1026C>G (p.Asp342Glu)
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rs2059699090
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NM_004006.3(DMD):c.1027C>A (p.Arg343Ser)
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NM_004006.3(DMD):c.1027C>T (p.Arg343Cys)
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NM_004006.3(DMD):c.10307G>A (p.Arg3436His)
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NM_004006.3(DMD):c.10326C>T (p.Ser3442=)
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NM_004006.3(DMD):c.10348A>C (p.Ser3450Arg)
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NM_004006.3(DMD):c.10351A>T (p.Asn3451Tyr)
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NM_004006.3(DMD):c.10381C>A (p.Pro3461Thr)
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NM_004006.3(DMD):c.10395A>G (p.Ile3465Met)
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NM_004006.3(DMD):c.10397A>C (p.Asp3466Ala)
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NM_004006.3(DMD):c.10407T>A (p.His3469Gln)
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NM_004006.3(DMD):c.10433G>C (p.Ser3478Thr)
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NM_004006.3(DMD):c.1044A>C (p.Leu348Phe)
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NM_004006.3(DMD):c.10453C>G (p.Leu3485Val)
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NM_004006.3(DMD):c.10454T>A (p.Leu3485Gln)
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rs2148184033
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NM_004006.3(DMD):c.1046AAG[1] (p.Glu350del)
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rs2146834326
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NM_004006.3(DMD):c.10474G>T (p.Ala3492Ser)
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rs749781194
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NM_004006.3(DMD):c.10501G>A (p.Glu3501Lys)
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NM_004006.3(DMD):c.10505A>T (p.Glu3502Val)
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rs773880226
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NM_004006.3(DMD):c.10516C>A (p.Leu3506Ile)
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NM_004006.3(DMD):c.1051G>A (p.Val351Ile)
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NM_004006.3(DMD):c.10554G>A (p.Arg3518=)
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rs2147936482
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NM_004006.3(DMD):c.10565C>T (p.Ala3522Val)
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NM_004006.3(DMD):c.10604G>T (p.Gly3535Val)
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rs1555998259
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NM_004006.3(DMD):c.10624C>G (p.Pro3542Ala)
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NM_004006.3(DMD):c.10625C>T (p.Pro3542Leu)
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NM_004006.3(DMD):c.10630G>A (p.Glu3544Lys)
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NM_004006.3(DMD):c.10639C>T (p.Pro3547Ser)
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NM_004006.3(DMD):c.10648C>T (p.Pro3550Ser)
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NM_004006.3(DMD):c.10655_10663del (p.Ser3552_Asp3555delinsAsn)
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NM_004006.3(DMD):c.10666G>A (p.Ala3556Thr)
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rs2036843971
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NM_004006.3(DMD):c.10697G>A (p.Arg3566His)
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rs2147934267
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NM_004006.3(DMD):c.10724G>A (p.Arg3575Lys)
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NM_004006.3(DMD):c.10732A>C (p.Ile3578Leu)
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NM_004006.3(DMD):c.10797+13A>G
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NM_004006.3(DMD):c.10797+6_10797+8del
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rs761754676
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NM_004006.3(DMD):c.10798-11G>A
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rs2147922901
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NM_004006.3(DMD):c.10798-3T>A
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NM_004006.3(DMD):c.10798C>T (p.Pro3600Ser)
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NM_004006.3(DMD):c.1079A>T (p.Asp360Val)
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rs1556876337
|
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NM_004006.3(DMD):c.10808A>T (p.Glu3603Val)
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|
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NM_004006.3(DMD):c.10829C>T (p.Thr3610Met)
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rs2036699076
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NM_004006.3(DMD):c.10831G>T (p.Val3611Leu)
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|
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NM_004006.3(DMD):c.10834T>G (p.Ser3612Ala)
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NM_004006.3(DMD):c.10837T>A (p.Ser3613Thr)
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NM_004006.3(DMD):c.10839T>A (p.Ser3613=)
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NM_004006.3(DMD):c.10843_10845del (p.Ser3615del)
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rs751391426
|
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NM_004006.3(DMD):c.10877C>T (p.Pro3626Leu)
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rs2147921655
|
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NM_004006.3(DMD):c.10879A>G (p.Met3627Val)
|
rs886044628
|
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NM_004006.3(DMD):c.10880T>A (p.Met3627Lys)
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|
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NM_004006.3(DMD):c.10898G>A (p.Gly3633Asp)
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NM_004006.3(DMD):c.10901G>A (p.Ser3634Asn)
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NM_004006.3(DMD):c.10905A>C (p.Gln3635His)
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NM_004006.3(DMD):c.10916C>T (p.Ser3639Phe)
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|
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NM_004006.3(DMD):c.10918A>G (p.Met3640Val)
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|
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NM_004006.3(DMD):c.10921+5G>C
|
rs398123848
|
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NM_004006.3(DMD):c.10929A>C (p.Glu3643Asp)
|
|
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NM_004006.3(DMD):c.10932T>G (p.Asp3644Glu)
|
rs2034882802
|
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NM_004006.3(DMD):c.10936C>G (p.Leu3646Val)
|
|
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NM_004006.3(DMD):c.10939A>G (p.Ser3647Gly)
|
|
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NM_004006.3(DMD):c.1093C>A (p.Gln365Lys)
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|
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NM_004006.3(DMD):c.1093C>G (p.Gln365Glu)
|
rs794726993
|
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NM_004006.3(DMD):c.10942C>T (p.Pro3648Ser)
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|
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NM_004006.3(DMD):c.10961C>A (p.Thr3654Lys)
|
rs2034876653
|
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NM_004006.3(DMD):c.10964G>C (p.Gly3655Ala)
|
|
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NM_004006.3(DMD):c.10969G>A (p.Glu3657Lys)
|
rs2147774607
|
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NM_004006.3(DMD):c.10969G>C (p.Glu3657Gln)
|
|
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NM_004006.3(DMD):c.10979T>G (p.Met3660Arg)
|
rs2034871943
|
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NM_004006.3(DMD):c.1097G>A (p.Gly366Glu)
|
rs763144501
|
|
NM_004006.3(DMD):c.11003C>G (p.Pro3668Arg)
|
rs2147774126
|
|
NM_004006.3(DMD):c.11014+6C>T
|
|
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NM_004006.3(DMD):c.11018G>A (p.Arg3673Lys)
|
rs1795743
|
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NM_004006.3(DMD):c.1101G>C (p.Glu367Asp)
|
rs2146833091
|
|
NM_004006.3(DMD):c.11022T>G (p.Asn3674Lys)
|
rs398123849
|
|
NM_004006.3(DMD):c.11027C>T (p.Pro3676Leu)
|
|
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NM_004006.3(DMD):c.11044G>C (p.Glu3682Gln)
|
|
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NM_004006.3(DMD):c.11047-3C>T
|
|
|
NM_004006.3(DMD):c.11054T>C (p.Met3685Thr)
|
rs1464917165
|
|
NM_004006.3(DMD):c.1108A>G (p.Asn370Asp)
|
rs1335517714
|
|
NM_004006.3(DMD):c.1114G>T (p.Val372Leu)
|
rs747254030
|
|
NM_004006.3(DMD):c.1132C>G (p.Gln378Glu)
|
rs1556876203
|
|
NM_004006.3(DMD):c.1139A>G (p.His380Arg)
|
rs1556876185
|
|
NM_004006.3(DMD):c.1144C>T (p.His382Tyr)
|
rs1556876180
|
|
NM_004006.3(DMD):c.1149+6C>G
|
|
|
NM_004006.3(DMD):c.1150-253_1150-5delinsAGT
|
rs2146822766
|
|
NM_004006.3(DMD):c.1151G>T (p.Gly384Val)
|
|
|
NM_004006.3(DMD):c.1153T>C (p.Tyr385His)
|
rs2059650911
|
|
NM_004006.3(DMD):c.1157T>A (p.Met386Lys)
|
rs2146822418
|
|
NM_004006.3(DMD):c.1158G>A (p.Met386Ile)
|
|
|
NM_004006.3(DMD):c.1160T>G (p.Met387Arg)
|
rs746169492
|
|
NM_004006.3(DMD):c.1172C>A (p.Ala391Asp)
|
rs1602460817
|
|
NM_004006.3(DMD):c.1174C>T (p.His392Tyr)
|
rs1430827339
|
|
NM_004006.3(DMD):c.1183C>G (p.Arg395Gly)
|
|
|
NM_004006.3(DMD):c.118C>G (p.Leu40Val)
|
|
|
NM_004006.3(DMD):c.118C>T (p.Leu40Phe)
|
rs1001154410
|
|
NM_004006.3(DMD):c.1196T>C (p.Ile399Thr)
|
rs2059648333
|
|
NM_004006.3(DMD):c.1198C>G (p.Leu400Val)
|
|
|
NM_004006.3(DMD):c.119T>A (p.Leu40His)
|
|
|
NM_004006.3(DMD):c.1211G>T (p.Ser404Ile)
|
rs398123851
|
|
NM_004006.3(DMD):c.1216C>G (p.Leu406Val)
|
rs1569374104
|
|
NM_004006.3(DMD):c.121T>G (p.Phe41Val)
|
|
|
NM_004006.3(DMD):c.1225A>G (p.Thr409Ala)
|
rs34155804
|
|
NM_004006.3(DMD):c.1231A>G (p.Lys411Glu)
|
|
|
NM_004006.3(DMD):c.1233A>T (p.Lys411Asn)
|
rs2059646376
|
|
NM_004006.3(DMD):c.1236A>T (p.Leu412Phe)
|
rs2059646282
|
|
NM_004006.3(DMD):c.1246G>A (p.Glu416Lys)
|
|
|
NM_004006.3(DMD):c.1252A>C (p.Thr418Pro)
|
|
|
NM_004006.3(DMD):c.1261C>A (p.Gln421Lys)
|
|
|
NM_004006.3(DMD):c.1262A>C (p.Gln421Pro)
|
|
|
NM_004006.3(DMD):c.1264G>C (p.Glu422Gln)
|
|
|
NM_004006.3(DMD):c.1268A>C (p.Gln423Pro)
|
rs2059644324
|
|
NM_004006.3(DMD):c.1272G>A (p.Met424Ile)
|
rs1569373686
|
|
NM_004006.3(DMD):c.1274A>G (p.Asn425Ser)
|
rs1449136689
|
|
NM_004006.3(DMD):c.1275T>A (p.Asn425Lys)
|
|
|
NM_004006.3(DMD):c.1286C>T (p.Ser429Leu)
|
|
|
NM_004006.3(DMD):c.1309G>A (p.Ala437Thr)
|
rs748964279
|
|
NM_004006.3(DMD):c.1310C>A (p.Ala437Asp)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1310C>T (p.Ala437Val)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1313G>C (p.Ser438Thr)
|
|
|
NM_004006.3(DMD):c.1315A>C (p.Met439Leu)
|
|
|
NM_004006.3(DMD):c.1315A>G (p.Met439Val)
|
rs1569373322
|
|
NM_004006.3(DMD):c.1324C>G (p.Gln442Glu)
|
|
|
NM_004006.3(DMD):c.1328G>A (p.Ser443Asn)
|
rs2059640455
|
|
NM_004006.3(DMD):c.1331+4del
|
rs2059639861
|
|
NM_004006.3(DMD):c.1331+6T>A
|
|
|
NM_004006.3(DMD):c.1332-11909C>G
|
rs1556861879
|
|
NM_004006.3(DMD):c.1340G>C (p.Arg447Thr)
|
|
|
NM_004006.3(DMD):c.1342G>T (p.Val448Phe)
|
|
|
NM_004006.3(DMD):c.1354C>T (p.Leu452Phe)
|
|
|
NM_004006.3(DMD):c.1360A>C (p.Asn454His)
|
|
|
NM_004006.3(DMD):c.137A>T (p.Asp46Val)
|
rs398123858
|
|
NM_004006.3(DMD):c.1380G>C (p.Leu460Phe)
|
|
|
NM_004006.3(DMD):c.1386C>G (p.Asp462Glu)
|
|
|
NM_004006.3(DMD):c.1396A>C (p.Lys466Gln)
|
rs2149350103
|
|
NM_004006.3(DMD):c.1399A>T (p.Thr467Ser)
|
rs1556853254
|
|
NM_004006.3(DMD):c.139G>A (p.Gly47Arg)
|
rs1557084183
|
|
NM_004006.3(DMD):c.139G>T (p.Gly47Trp)
|
rs1557084183
|
|
NM_004006.3(DMD):c.1402G>C (p.Glu468Gln)
|
|
|
NM_004006.3(DMD):c.1422G>T (p.Met474Ile)
|
rs1602169021
|
|
NM_004006.3(DMD):c.1424A>C (p.Glu475Ala)
|
|
|
NM_004006.3(DMD):c.1439G>C (p.Gly480Ala)
|
rs1569310654
|
|
NM_004006.3(DMD):c.1442C>G (p.Pro481Arg)
|
|
|
NM_004006.3(DMD):c.1442C>T (p.Pro481Leu)
|
|
|
NM_004006.3(DMD):c.1444G>T (p.Asp482Tyr)
|
|
|
NM_004006.3(DMD):c.1445A>G (p.Asp482Gly)
|
rs2149349765
|
|
NM_004006.3(DMD):c.1447C>A (p.Leu483Ile)
|
|
|
NM_004006.3(DMD):c.1470ACA[2] (p.Gln492del)
|
rs2149349491
|
|
NM_004006.3(DMD):c.1471C>G (p.Gln491Glu)
|
|
|
NM_004006.3(DMD):c.1478A>G (p.His493Arg)
|
|
|
NM_004006.3(DMD):c.1481A>G (p.Lys494Arg)
|
rs1556853018
|
|
NM_004006.3(DMD):c.1483-41_1483-9del
|
rs2149265234
|
|
NM_004006.3(DMD):c.1483G>T (p.Val495Leu)
|
rs754176290
|
|
NM_004006.3(DMD):c.1486C>T (p.Leu496Phe)
|
rs1190770957
|
|
NM_004006.3(DMD):c.1494A>C (p.Glu498Asp)
|
|
|
NM_004006.3(DMD):c.1494A>T (p.Glu498Asp)
|
|
|
NM_004006.3(DMD):c.1498C>G (p.Leu500Val)
|
|
|
NM_004006.3(DMD):c.149T>A (p.Leu50His)
|
rs1557084149
|
|
NM_004006.3(DMD):c.14AAG[1] (p.Glu6del)
|
|
|
NM_004006.3(DMD):c.1502A>G (p.Glu501Gly)
|
rs2149265107
|
|
NM_004006.3(DMD):c.1514T>A (p.Val505Asp)
|
rs2055459221
|
|
NM_004006.3(DMD):c.1517G>A (p.Arg506Lys)
|
|
|
NM_004006.3(DMD):c.1528C>T (p.Leu510Phe)
|
rs2055457774
|
|
NM_004006.3(DMD):c.152T>C (p.Leu51Pro)
|
rs886044089
|
|
NM_004006.3(DMD):c.1537A>G (p.Met513Val)
|
rs368326458
|
|
NM_004006.3(DMD):c.1539G>C (p.Met513Ile)
|
rs2149264812
|
|
NM_004006.3(DMD):c.1540G>T (p.Val514Leu)
|
|
|
NM_004006.3(DMD):c.1550T>C (p.Val517Ala)
|
rs2149264721
|
|
NM_004006.3(DMD):c.1556A>G (p.Glu519Gly)
|
rs2149264689
|
|
NM_004006.3(DMD):c.1561A>C (p.Ser521Arg)
|
|
|
NM_004006.3(DMD):c.1563T>G (p.Ser521Arg)
|
|
|
NM_004006.3(DMD):c.1570C>T (p.His524Tyr)
|
|
|
NM_004006.3(DMD):c.1573G>C (p.Ala525Pro)
|
|
|
NM_004006.3(DMD):c.1574C>A (p.Ala525Glu)
|
rs2149264563
|
|
NM_004006.3(DMD):c.1576A>C (p.Thr526Pro)
|
|
|
NM_004006.3(DMD):c.1582G>T (p.Ala528Ser)
|
|
|
NM_004006.3(DMD):c.1588G>A (p.Glu530Lys)
|
|
|
NM_004006.3(DMD):c.1597C>G (p.Leu533Val)
|
rs1556834538
|
|
NM_004006.3(DMD):c.1597C>T (p.Leu533Phe)
|
rs1556834538
|
|
NM_004006.3(DMD):c.1601A>C (p.Lys534Thr)
|
rs760874706
|
|
NM_004006.3(DMD):c.1602+4A>C
|
rs2149264363
|
|
NM_004006.3(DMD):c.1602+5G>T
|
rs2149264352
|
|
NM_004006.3(DMD):c.1603G>A (p.Val535Ile)
|
rs2052711854
|
|
NM_004006.3(DMD):c.1614T>A (p.Asp538Glu)
|
rs1430002641
|
|
NM_004006.3(DMD):c.1621G>T (p.Ala541Ser)
|
|
|
NM_004006.3(DMD):c.1627A>T (p.Ile543Phe)
|
rs2149138828
|
|
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.163G>A (p.Glu55Lys)
|
rs1603448406
|
|
NM_004006.3(DMD):c.1667A>G (p.Asp556Gly)
|
|
|
NM_004006.3(DMD):c.1667A>T (p.Asp556Val)
|
|
|
NM_004006.3(DMD):c.167G>T (p.Gly56Val)
|
rs2149014905
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)
|
rs766450050
|
|
NM_004006.3(DMD):c.1703A>C (p.Gln568Pro)
|
|
|
NM_004006.3(DMD):c.1703A>T (p.Gln568Leu)
|
|
|
NM_004006.3(DMD):c.1704+4T>G
|
|
|
NM_004006.3(DMD):c.1704G>C (p.Gln568His)
|
rs1601810379
|
|
NM_004006.3(DMD):c.1705-11A>G
|
|
|
NM_004006.3(DMD):c.1705-15T>G
|
|
|
NM_004006.3(DMD):c.1705-18T>G
|
rs2149137321
|
|
NM_004006.3(DMD):c.1711T>G (p.Phe571Val)
|
rs2149137178
|
|
NM_004006.3(DMD):c.1716T>A (p.Ser572Arg)
|
|
|
NM_004006.3(DMD):c.1736A>C (p.Glu579Ala)
|
|
|
NM_004006.3(DMD):c.173C>T (p.Thr58Ile)
|
|
|
NM_004006.3(DMD):c.1744G>A (p.Val582Met)
|
|
|
NM_004006.3(DMD):c.1745T>A (p.Val582Glu)
|
rs1556809842
|
|
NM_004006.3(DMD):c.1748A>G (p.Asn583Ser)
|
|
|
NM_004006.3(DMD):c.1750A>C (p.Lys584Gln)
|
rs1601808608
|
|
NM_004006.3(DMD):c.1760C>T (p.Thr587Ile)
|
rs2052673481
|
|
NM_004006.3(DMD):c.1762A>G (p.Thr588Ala)
|
rs1569229278
|
|
NM_004006.3(DMD):c.1769T>A (p.Phe590Tyr)
|
|
|
NM_004006.3(DMD):c.1786A>G (p.Met596Val)
|
rs2052669974
|
|
NM_004006.3(DMD):c.1788G>A (p.Met596Ile)
|
rs2052669244
|
|
NM_004006.3(DMD):c.1795A>G (p.Ser599Gly)
|
|
|
NM_004006.3(DMD):c.1807C>A (p.Leu603Met)
|
|
|
NM_004006.3(DMD):c.1813-3C>T
|
rs181399181
|
|
NM_004006.3(DMD):c.1813G>T (p.Val605Phe)
|
|
|
NM_004006.3(DMD):c.1814T>A (p.Val605Asp)
|
|
|
NM_004006.3(DMD):c.1819A>G (p.Lys607Glu)
|
|
|
NM_004006.3(DMD):c.1835A>G (p.Lys612Arg)
|
|
|
NM_004006.3(DMD):c.1835A>T (p.Lys612Met)
|
|
|
NM_004006.3(DMD):c.1838A>G (p.Lys613Arg)
|
|
|
NM_004006.3(DMD):c.1851G>A (p.Met617Ile)
|
rs1238073206
|
|
NM_004006.3(DMD):c.1855A>G (p.Lys619Glu)
|
|
|
NM_004006.3(DMD):c.1858C>A (p.Leu620Met)
|
|
|
NM_004006.3(DMD):c.1859T>C (p.Leu620Pro)
|
|
|
NM_004006.3(DMD):c.186+3A>C
|
|
|
NM_004006.3(DMD):c.1861T>A (p.Tyr621Asn)
|
|
|
NM_004006.3(DMD):c.187-10_187-6del
|
rs1557079581
|
|
NM_004006.3(DMD):c.187-9T>A
|
|
|
NM_004006.3(DMD):c.1877A>T (p.Asp626Val)
|
rs1569214355
|
|
NM_004006.3(DMD):c.1879CTT[1] (p.Leu628del)
|
rs767034345
|
|
NM_004006.3(DMD):c.187C>T (p.Pro63Ser)
|
rs1386946939
|
|
NM_004006.3(DMD):c.1889C>A (p.Thr630Lys)
|
rs1057523223
|
|
NM_004006.3(DMD):c.1892T>C (p.Leu631Pro)
|
|
|
NM_004006.3(DMD):c.1897A>T (p.Asn633Tyr)
|
rs757047592
|
|
NM_004006.3(DMD):c.1912C>A (p.Gln638Lys)
|
|
|
NM_004006.3(DMD):c.1915A>C (p.Lys639Gln)
|
rs2149094935
|
|
NM_004006.3(DMD):c.1918A>T (p.Thr640Ser)
|
rs2149094920
|
|
NM_004006.3(DMD):c.1931T>C (p.Leu644Pro)
|
|
|
NM_004006.3(DMD):c.193G>C (p.Glu65Gln)
|
rs2148984839
|
|
NM_004006.3(DMD):c.1942G>C (p.Ala648Pro)
|
|
|
NM_004006.3(DMD):c.1946G>C (p.Arg649Pro)
|
rs749004200
|
|
NM_004006.3(DMD):c.1946G>T (p.Arg649Leu)
|
|
|
NM_004006.3(DMD):c.1949G>T (p.Cys650Phe)
|
rs2149094726
|
|
NM_004006.3(DMD):c.1952G>T (p.Trp651Leu)
|
|
|
NM_004006.3(DMD):c.195A>C (p.Glu65Asp)
|
|
|
NM_004006.3(DMD):c.1961T>C (p.Leu654Ser)
|
rs1057518312
|
|
NM_004006.3(DMD):c.1969A>G (p.Lys657Glu)
|
|
|
NM_004006.3(DMD):c.1970A>G (p.Lys657Arg)
|
|
|
NM_004006.3(DMD):c.1972C>T (p.Leu658Phe)
|
rs2051622052
|
|
NM_004006.3(DMD):c.1975G>C (p.Glu659Gln)
|
|
|
NM_004006.3(DMD):c.1979A>G (p.Lys660Arg)
|
|
|
NM_004006.3(DMD):c.1980G>C (p.Lys660Asn)
|
rs2149094500
|
|
NM_004006.3(DMD):c.1982G>T (p.Ser661Ile)
|
rs2149094479
|
|
NM_004006.3(DMD):c.1983T>A (p.Ser661Arg)
|
|
|
NM_004006.3(DMD):c.1991A>G (p.Gln664Arg)
|
|
|
NM_004006.3(DMD):c.1992+4A>T
|
|
|
NM_004006.3(DMD):c.1992+5G>A
|
|
|
NM_004006.3(DMD):c.1993-13A>G
|
|
|
NM_004006.3(DMD):c.1996T>C (p.Ser666Pro)
|
|
|
NM_004006.3(DMD):c.199G>A (p.Gly67Arg)
|
rs398123871
|
|
NM_004006.3(DMD):c.2033A>G (p.Gln678Arg)
|
rs755805024
|
|
NM_004006.3(DMD):c.2036C>A (p.Thr679Lys)
|
|
|
NM_004006.3(DMD):c.2041G>T (p.Val681Leu)
|
|
|
NM_004006.3(DMD):c.2044A>G (p.Met682Val)
|
|
|
NM_004006.3(DMD):c.2053G>T (p.Val685Leu)
|
rs1603635954
|
|
NM_004006.3(DMD):c.2057C>T (p.Thr686Ile)
|
rs2148959991
|
|
NM_004006.3(DMD):c.2059A>T (p.Thr687Ser)
|
|
|
NM_004006.3(DMD):c.2060C>G (p.Thr687Arg)
|
|
|
NM_004006.3(DMD):c.2062G>A (p.Val688Met)
|
rs2148959937
|
|
NM_004006.3(DMD):c.2066C>A (p.Thr689Asn)
|
rs2048861309
|
|
NM_004006.3(DMD):c.2066C>T (p.Thr689Ile)
|
rs2048861309
|
|
NM_004006.3(DMD):c.2078A>C (p.Gln693Pro)
|
|
|
NM_004006.3(DMD):c.2084T>C (p.Leu695Pro)
|
|
|
NM_004006.3(DMD):c.208A>G (p.Arg70Gly)
|
|
|
NM_004006.3(DMD):c.2091G>T (p.Lys697Asn)
|
|
|
NM_004006.3(DMD):c.2099A>C (p.Gln700Pro)
|
|
|
NM_004006.3(DMD):c.2106A>T (p.Glu702Asp)
|
|
|
NM_004006.3(DMD):c.2107C>A (p.Leu703Ile)
|
|
|
NM_004006.3(DMD):c.2116C>A (p.Pro706Thr)
|
|
|
NM_004006.3(DMD):c.2122C>A (p.Pro708Thr)
|
|
|
NM_004006.3(DMD):c.2126A>T (p.Gln709Leu)
|
rs370459675
|
|
NM_004006.3(DMD):c.2130G>T (p.Lys710Asn)
|
rs1209997926
|
|
NM_004006.3(DMD):c.2139G>T (p.Gln713His)
|
|
|
NM_004006.3(DMD):c.2143A>C (p.Thr715Pro)
|
rs16998350
|
|
NM_004006.3(DMD):c.2149G>T (p.Asp717Tyr)
|
|
|
NM_004006.3(DMD):c.2150A>T (p.Asp717Val)
|
rs2048851376
|
|
NM_004006.3(DMD):c.2156A>T (p.Glu719Val)
|
|
|
NM_004006.3(DMD):c.2161A>T (p.Arg721Trp)
|
|
|
NM_004006.3(DMD):c.2166A>T (p.Lys722Asn)
|
|
|
NM_004006.3(DMD):c.2171T>G (p.Leu724Trp)
|
rs2148804933
|
|
NM_004006.3(DMD):c.2173G>A (p.Asp725Asn)
|
|
|
NM_004006.3(DMD):c.2173G>C (p.Asp725His)
|
|
|
NM_004006.3(DMD):c.2176G>A (p.Val726Ile)
|
|
|
NM_004006.3(DMD):c.2176G>T (p.Val726Phe)
|
rs886044365
|
|
NM_004006.3(DMD):c.2185A>G (p.Thr729Ala)
|
|
|
NM_004006.3(DMD):c.2194C>G (p.His732Asp)
|
rs2046039786
|
|
NM_004006.3(DMD):c.2210G>T (p.Arg737Leu)
|
rs773358704
|
|
NM_004006.3(DMD):c.2212T>C (p.Ser738Pro)
|
|
|
NM_004006.3(DMD):c.221T>C (p.Leu74Pro)
|
|
|
NM_004006.3(DMD):c.2222T>C (p.Val741Ala)
|
rs886039135
|
|
NM_004006.3(DMD):c.2233C>T (p.Pro745Ser)
|
rs1435295333
|
|
NM_004006.3(DMD):c.2236G>C (p.Glu746Gln)
|
|
|
NM_004006.3(DMD):c.2237A>C (p.Glu746Ala)
|
|
|
NM_004006.3(DMD):c.2240T>C (p.Phe747Ser)
|
|
|
NM_004006.3(DMD):c.2242G>C (p.Ala748Pro)
|
|
|
NM_004006.3(DMD):c.224A>G (p.Asn75Ser)
|
rs2080508805
|
|
NM_004006.3(DMD):c.2252G>T (p.Arg751Leu)
|
|
|
NM_004006.3(DMD):c.2260G>A (p.Gly754Ser)
|
|
|
NM_004006.3(DMD):c.2263A>G (p.Asn755Asp)
|
|
|
NM_004006.3(DMD):c.2272G>T (p.Asp758Tyr)
|
|
|
NM_004006.3(DMD):c.2273A>G (p.Asp758Gly)
|
rs750526692
|
|
NM_004006.3(DMD):c.2275T>A (p.Leu759Ile)
|
|
|
NM_004006.3(DMD):c.2279A>C (p.Lys760Thr)
|
|
|
NM_004006.3(DMD):c.2279A>G (p.Lys760Arg)
|
|
|
NM_004006.3(DMD):c.2281G>A (p.Glu761Lys)
|
|
|
NM_004006.3(DMD):c.2282A>T (p.Glu761Val)
|
|
|
NM_004006.3(DMD):c.2287G>A (p.Val763Ile)
|
rs2046031052
|
|
NM_004006.3(DMD):c.2288T>C (p.Val763Ala)
|
rs2046030879
|
|
NM_004006.3(DMD):c.2288T>G (p.Val763Gly)
|
|
|
NM_004006.3(DMD):c.2292T>G (p.Asn764Lys)
|
|
|
NM_004006.3(DMD):c.2293G>A (p.Ala765Thr)
|
rs2044087804
|
|
NM_004006.3(DMD):c.2298A>G (p.Ile766Met)
|
rs2044086464
|
|
NM_004006.3(DMD):c.22G>A (p.Glu8Lys)
|
rs2148864111
|
|
NM_004006.3(DMD):c.2301G>T (p.Glu767Asp)
|
rs2044086255
|
|
NM_004006.3(DMD):c.2302C>G (p.Arg768Gly)
|
|
|
NM_004006.3(DMD):c.2315A>C (p.Glu772Ala)
|
|
|
NM_004006.3(DMD):c.2318A>C (p.Lys773Thr)
|
rs2044083706
|
|
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)
|
rs794727226
|
|
NM_004006.3(DMD):c.2333A>G (p.Gln778Arg)
|
|
|
NM_004006.3(DMD):c.2335G>C (p.Asp779His)
|
rs2148691189
|
|
NM_004006.3(DMD):c.2345G>A (p.Arg782Lys)
|
|
|
NM_004006.3(DMD):c.2351C>T (p.Ala784Val)
|
|
|
NM_004006.3(DMD):c.2354A>G (p.Gln785Arg)
|
rs2044079062
|
|
NM_004006.3(DMD):c.2363T>C (p.Val788Ala)
|
rs1603634972
|
|
NM_004006.3(DMD):c.2375T>C (p.Val792Ala)
|
rs1014795303
|
|
NM_004006.3(DMD):c.2388T>G (p.Val796=)
|
|
|
NM_004006.3(DMD):c.2398A>G (p.Ser800Gly)
|
rs2042995122
|
|
NM_004006.3(DMD):c.2400C>A (p.Ser800Arg)
|
rs142115986
|
|
NM_004006.3(DMD):c.2405A>C (p.Lys802Thr)
|
|
|
NM_004006.3(DMD):c.2405A>G (p.Lys802Arg)
|
|
|
NM_004006.3(DMD):c.2407C>A (p.Gln803Lys)
|
|
|
NM_004006.3(DMD):c.2418A>T (p.Glu806Asp)
|
rs1569564803
|
|
NM_004006.3(DMD):c.2421A>C (p.Gln807His)
|
rs2042991906
|
|
NM_004006.3(DMD):c.2425A>T (p.Asn809Tyr)
|
|
|
NM_004006.3(DMD):c.2428A>C (p.Ser810Arg)
|
|
|
NM_004006.3(DMD):c.2434T>A (p.Trp812Arg)
|
rs1557383723
|
|
NM_004006.3(DMD):c.2447G>T (p.Cys816Phe)
|
|
|
NM_004006.3(DMD):c.245G>C (p.Arg82Pro)
|
rs1228664222
|
|
NM_004006.3(DMD):c.245G>T (p.Arg82Leu)
|
|
|
NM_004006.3(DMD):c.2467C>A (p.Leu823Ile)
|
rs1361636867
|
|
NM_004006.3(DMD):c.247G>T (p.Val83Phe)
|
|
|
NM_004006.3(DMD):c.2486A>C (p.Gln829Pro)
|
rs1557383647
|
|
NM_004006.3(DMD):c.2489A>T (p.Asn830Ile)
|
rs2148631760
|
|
NM_004006.3(DMD):c.2489ACA[1] (p.Asn831del)
|
rs771166460
|
|
NM_004006.3(DMD):c.2491A>G (p.Asn831Asp)
|
|
|
NM_004006.3(DMD):c.2494A>G (p.Ile832Val)
|
|
|
NM_004006.3(DMD):c.2495T>A (p.Ile832Asn)
|
|
|
NM_004006.3(DMD):c.24G>C (p.Glu8Asp)
|
rs1330369801
|
|
NM_004006.3(DMD):c.2505C>G (p.Phe835Leu)
|
|
|
NM_004006.3(DMD):c.2510A>G (p.Asn837Ser)
|
|
|
NM_004006.3(DMD):c.2511T>A (p.Asn837Lys)
|
|
|
NM_004006.3(DMD):c.2518C>A (p.Gln840Lys)
|
rs398123892
|
|
NM_004006.3(DMD):c.2531A>G (p.Gln844Arg)
|
rs2148631249
|
|
NM_004006.3(DMD):c.2532G>T (p.Gln844His)
|
|
|
NM_004006.3(DMD):c.2539ACT[1] (p.Thr848del)
|
|
|
NM_004006.3(DMD):c.2543C>T (p.Thr848Ile)
|
|
|
NM_004006.3(DMD):c.2553C>G (p.Asn851Lys)
|
|
|
NM_004006.3(DMD):c.2556G>T (p.Trp852Cys)
|
rs1429329309
|
|
NM_004006.3(DMD):c.2558T>G (p.Leu853Trp)
|
rs2148630970
|
|
NM_004006.3(DMD):c.257A>G (p.Asn86Ser)
|
|
|
NM_004006.3(DMD):c.2585A>G (p.Glu862Gly)
|
rs1557383527
|
|
NM_004006.3(DMD):c.258C>A (p.Asn86Lys)
|
|
|
NM_004006.3(DMD):c.2607G>T (p.Gln869His)
|
rs398123898
|
|
NM_004006.3(DMD):c.2611A>G (p.Lys871Glu)
|
|
|
NM_004006.3(DMD):c.2614A>T (p.Ile872Phe)
|
rs1557383485
|
|
NM_004006.3(DMD):c.2617T>G (p.Cys873Gly)
|
|
|
NM_004006.3(DMD):c.2621A>G (p.Lys874Arg)
|
|
|
NM_004006.3(DMD):c.2623-3C>T
|
|
|
NM_004006.3(DMD):c.2626G>A (p.Glu876Lys)
|
|
|
NM_004006.3(DMD):c.2627A>T (p.Glu876Val)
|
|
|
NM_004006.3(DMD):c.2629G>A (p.Val877Ile)
|
rs774459142
|
|
NM_004006.3(DMD):c.2633A>G (p.Asn878Ser)
|
rs2148584563
|
|
NM_004006.3(DMD):c.2636G>A (p.Arg879Gln)
|
rs886044267
|
|
NM_004006.3(DMD):c.2636G>T (p.Arg879Leu)
|
|
|
NM_004006.3(DMD):c.264+3A>T
|
rs748003531
|
|
NM_004006.3(DMD):c.264+4A>G
|
rs1159546987
|
|
NM_004006.3(DMD):c.264+5G>A
|
rs398123902
|
|
NM_004006.3(DMD):c.2654C>T (p.Pro885Leu)
|
rs2042278940
|
|
NM_004006.3(DMD):c.2665C>G (p.Arg889Gly)
|
|
|
NM_004006.3(DMD):c.2666G>T (p.Arg889Leu)
|
rs779579811
|
|
NM_004006.3(DMD):c.266T>C (p.Val89Ala)
|
rs1557058441
|
|
NM_004006.3(DMD):c.2672A>G (p.Lys891Arg)
|
|
|
NM_004006.3(DMD):c.2674A>G (p.Ile892Val)
|
|
|
NM_004006.3(DMD):c.2677C>G (p.Gln893Glu)
|
|
|
NM_004006.3(DMD):c.2681G>C (p.Ser894Thr)
|
|
|
NM_004006.3(DMD):c.2681G>T (p.Ser894Ile)
|
|
|
NM_004006.3(DMD):c.2699A>T (p.Lys900Ile)
|
rs1557380569
|
|
NM_004006.3(DMD):c.2707G>A (p.Gly903Arg)
|
|
|
NM_004006.3(DMD):c.2711C>A (p.Pro904His)
|
|
|
NM_004006.3(DMD):c.2713A>G (p.Met905Val)
|
|
|
NM_004006.3(DMD):c.2714T>C (p.Met905Thr)
|
rs1454170307
|
|
NM_004006.3(DMD):c.2714T>G (p.Met905Arg)
|
rs1454170307
|
|
NM_004006.3(DMD):c.2716T>A (p.Phe906Ile)
|
|
|
NM_004006.3(DMD):c.2718C>A (p.Phe906Leu)
|
|
|
NM_004006.3(DMD):c.2720T>C (p.Leu907Pro)
|
rs1060502654
|
|
NM_004006.3(DMD):c.2720T>G (p.Leu907Arg)
|
|
|
NM_004006.3(DMD):c.2725G>A (p.Ala909Thr)
|
rs1060502616
|
|
NM_004006.3(DMD):c.2732T>C (p.Phe911Ser)
|
rs2042270248
|
|
NM_004006.3(DMD):c.2734G>A (p.Val912Met)
|
rs201549805
|
|
NM_004006.3(DMD):c.2738C>A (p.Ala913Asp)
|
|
|
NM_004006.3(DMD):c.2741T>A (p.Phe914Tyr)
|
|
|
NM_004006.3(DMD):c.2749C>A (p.His917Asn)
|
|
|
NM_004006.3(DMD):c.2756A>G (p.Lys919Arg)
|
|
|
NM_004006.3(DMD):c.275T>A (p.Val92Glu)
|
|
|
NM_004006.3(DMD):c.2761G>A (p.Val921Ile)
|
rs746919167
|
|
NM_004006.3(DMD):c.2761G>C (p.Val921Leu)
|
|
|
NM_004006.3(DMD):c.2762T>G (p.Val921Gly)
|
rs779873011
|
|
NM_004006.3(DMD):c.2767T>C (p.Ser923Pro)
|
|
|
NM_004006.3(DMD):c.276_277delinsAG (p.Asn93Asp)
|
rs2148850616
|
|
NM_004006.3(DMD):c.2779G>A (p.Ala927Thr)
|
|
|
NM_004006.3(DMD):c.2786A>G (p.Glu929Gly)
|
|
|
NM_004006.3(DMD):c.2801C>A (p.Thr934Lys)
|
rs2042264322
|
|
NM_004006.3(DMD):c.2801C>T (p.Thr934Ile)
|
rs2042264322
|
|
NM_004006.3(DMD):c.2803+5G>T
|
rs1603634603
|
|
NM_004006.3(DMD):c.2803A>G (p.Ile935Val)
|
|
|
NM_004006.3(DMD):c.2810A>C (p.Asp937Ala)
|
rs768386277
|
|
NM_004006.3(DMD):c.2813C>T (p.Thr938Ile)
|
|
|
NM_004006.3(DMD):c.2818C>T (p.Pro940Ser)
|
|
|
NM_004006.3(DMD):c.281T>C (p.Ile94Thr)
|
rs2078436389
|
|
NM_004006.3(DMD):c.2822C>G (p.Pro941Arg)
|
rs373914964
|
|
NM_004006.3(DMD):c.2822C>T (p.Pro941Leu)
|
rs373914964
|
|
NM_004006.3(DMD):c.2831A>G (p.Tyr944Cys)
|
rs2148485775
|
|
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg)
|
rs2040732218
|
|
NM_004006.3(DMD):c.2836G>A (p.Glu946Lys)
|
|
|
NM_004006.3(DMD):c.2836_2838del (p.Glu946del)
|
|
|
NM_004006.3(DMD):c.2843T>A (p.Met948Lys)
|
|
|
NM_004006.3(DMD):c.2844G>C (p.Met948Ile)
|
|
|
NM_004006.3(DMD):c.2846G>A (p.Ser949Asn)
|
rs1057522383
|
|
NM_004006.3(DMD):c.2846G>C (p.Ser949Thr)
|
rs1057522383
|
|
NM_004006.3(DMD):c.2852T>G (p.Ile951Ser)
|
rs2148485536
|
|
NM_004006.3(DMD):c.2863G>T (p.Val955Phe)
|
rs1060502657
|
|
NM_004006.3(DMD):c.2866CAG[1] (p.Gln957del)
|
rs2040725090
|
|
NM_004006.3(DMD):c.2867A>G (p.Gln956Arg)
|
|
|
NM_004006.3(DMD):c.2872T>A (p.Ser958Thr)
|
|
|
NM_004006.3(DMD):c.2876A>G (p.Glu959Gly)
|
|
|
NM_004006.3(DMD):c.2876A>T (p.Glu959Val)
|
|
|
NM_004006.3(DMD):c.2879C>T (p.Thr960Ile)
|
|
|
NM_004006.3(DMD):c.287G>A (p.Ser96Asn)
|
rs1569529162
|
|
NM_004006.3(DMD):c.2890A>G (p.Ile964Val)
|
|
|
NM_004006.3(DMD):c.2893C>A (p.Pro965Thr)
|
rs1431281003
|
|
NM_004006.3(DMD):c.2897A>C (p.Gln966Pro)
|
|
|
NM_004006.3(DMD):c.2898A>T (p.Gln966His)
|
|
|
NM_004006.3(DMD):c.2899C>T (p.Leu967Phe)
|
rs2040718654
|
|
NM_004006.3(DMD):c.289A>G (p.Thr97Ala)
|
rs1557058403
|
|
NM_004006.3(DMD):c.2909C>T (p.Thr970Ile)
|
|
|
NM_004006.3(DMD):c.2911G>A (p.Asp971Asn)
|
rs1376043336
|
|
NM_004006.3(DMD):c.2915A>C (p.Tyr972Ser)
|
|
|
NM_004006.3(DMD):c.2915A>G (p.Tyr972Cys)
|
|
|
NM_004006.3(DMD):c.2929C>A (p.Gln977Lys)
|
|
|
NM_004006.3(DMD):c.2935C>A (p.Leu979Ile)
|
|
|
NM_004006.3(DMD):c.2939G>A (p.Gly980Glu)
|
rs1057515875
|
|
NM_004006.3(DMD):c.2939G>T (p.Gly980Val)
|
rs1057515875
|
|
NM_004006.3(DMD):c.2941G>A (p.Glu981Lys)
|
rs2148484587
|
|
NM_004006.3(DMD):c.2942A>G (p.Glu981Gly)
|
rs1557374492
|
|
NM_004006.3(DMD):c.2948A>C (p.Gln983Pro)
|
|
|
NM_004006.3(DMD):c.2949+5G>A
|
rs1569564280
|
|
NM_004006.3(DMD):c.2950-11_2950-10del
|
|
|
NM_004006.3(DMD):c.2950-8T>A
|
|
|
NM_004006.3(DMD):c.2950-9_2950-3del
|
rs1557372619
|
|
NM_004006.3(DMD):c.2957A>C (p.Gln986Pro)
|
|
|
NM_004006.3(DMD):c.2960G>A (p.Ser987Asn)
|
rs1184694731
|
|
NM_004006.3(DMD):c.2962T>C (p.Ser988Pro)
|
rs2040307294
|
|
NM_004006.3(DMD):c.2968C>A (p.Gln990Lys)
|
rs1233380601
|
|
NM_004006.3(DMD):c.2971G>A (p.Glu991Lys)
|
|
|
NM_004006.3(DMD):c.2974C>A (p.Gln992Lys)
|
|
|
NM_004006.3(DMD):c.2977C>G (p.Gln993Glu)
|
|
|
NM_004006.3(DMD):c.2984G>T (p.Gly995Val)
|
rs2148460524
|
|
NM_004006.3(DMD):c.2993A>G (p.Tyr998Cys)
|
|
|
NM_004006.3(DMD):c.2995C>T (p.Leu999Phe)
|
|
|
NM_004006.3(DMD):c.29G>C (p.Cys10Ser)
|
rs794726909
|
|
NM_004006.3(DMD):c.3001A>G (p.Thr1001Ala)
|
rs2040303930
|
|
NM_004006.3(DMD):c.3013G>A (p.Glu1005Lys)
|
|
|
NM_004006.3(DMD):c.3014A>T (p.Glu1005Val)
|
|
|
NM_004006.3(DMD):c.3016A>T (p.Met1006Leu)
|
rs1557372536
|
|
NM_004006.3(DMD):c.3018G>A (p.Met1006Ile)
|
|
|
NM_004006.3(DMD):c.3025A>G (p.Lys1009Glu)
|
|
|
NM_004006.3(DMD):c.3044G>C (p.Ser1015Thr)
|
|
|
NM_004006.3(DMD):c.3044G>T (p.Ser1015Ile)
|
rs2148459910
|
|
NM_004006.3(DMD):c.3053A>G (p.Tyr1018Cys)
|
|
|
NM_004006.3(DMD):c.3069A>C (p.Glu1023Asp)
|
rs2040297014
|
|
NM_004006.3(DMD):c.3069A>T (p.Glu1023Asp)
|
|
|
NM_004006.3(DMD):c.3071A>C (p.Glu1024Ala)
|
|
|
NM_004006.3(DMD):c.3074T>C (p.Ile1025Thr)
|
rs376163041
|
|
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)
|
rs370171367
|
|
NM_004006.3(DMD):c.3083G>C (p.Arg1028Pro)
|
rs746322769
|
|
NM_004006.3(DMD):c.3088A>C (p.Lys1030Gln)
|
|
|
NM_004006.3(DMD):c.3092A>T (p.Lys1031Met)
|
|
|
NM_004006.3(DMD):c.30T>C (p.Cys10=)
|
|
|
NM_004006.3(DMD):c.31+16C>G
|
rs2148863935
|
|
NM_004006.3(DMD):c.31+2dup
|
rs2051897744
|
|
NM_004006.3(DMD):c.31+3A>G
|
|
|
NM_004006.3(DMD):c.31+4A>C
|
|
|
NM_004006.3(DMD):c.31+4A>G
|
rs1557300092
|
|
NM_004006.3(DMD):c.3106C>G (p.Leu1036Val)
|
|
|
NM_004006.3(DMD):c.3109G>T (p.Val1037Phe)
|
rs2040291471
|
|
NM_004006.3(DMD):c.310C>T (p.His104Tyr)
|
|
|
NM_004006.3(DMD):c.3119G>A (p.Cys1040Tyr)
|
rs1603634202
|
|
NM_004006.3(DMD):c.3126G>C (p.Lys1042Asn)
|
rs2040289618
|
|
NM_004006.3(DMD):c.3130G>A (p.Glu1044Lys)
|
|
|
NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro)
|
rs2040288189
|
|
NM_004006.3(DMD):c.3141G>T (p.Met1047Ile)
|
rs2148458957
|
|
NM_004006.3(DMD):c.3143A>G (p.Asn1048Ser)
|
rs367906493
|
|
NM_004006.3(DMD):c.314A>T (p.Lys105Ile)
|
rs398123928
|
|
NM_004006.3(DMD):c.3157A>G (p.Ile1053Val)
|
|
|
NM_004006.3(DMD):c.3161A>G (p.Gln1054Arg)
|
|
|
NM_004006.3(DMD):c.3162G>C (p.Gln1054His)
|
rs1414538851
|
|
NM_004006.3(DMD):c.3169A>C (p.Ile1057Leu)
|
|
|
NM_004006.3(DMD):c.316C>G (p.Leu106Val)
|
|
|
NM_004006.3(DMD):c.3190A>G (p.Met1064Val)
|
rs1281398911
|
|
NM_004006.3(DMD):c.3196G>A (p.Glu1066Lys)
|
|
|
NM_004006.3(DMD):c.3198A>T (p.Glu1066Asp)
|
|
|
NM_004006.3(DMD):c.319A>C (p.Thr107Pro)
|
|
|
NM_004006.3(DMD):c.3214_3216del (p.Lys1072del)
|
|
|
NM_004006.3(DMD):c.3220G>A (p.Glu1074Lys)
|
|
|
NM_004006.3(DMD):c.3225G>T (p.Trp1075Cys)
|
|
|
NM_004006.3(DMD):c.3226C>T (p.Pro1076Ser)
|
rs1422639014
|
|
NM_004006.3(DMD):c.3230C>T (p.Ala1077Val)
|
rs2148427766
|
|
NM_004006.3(DMD):c.3231_3232delinsAA (p.Leu1078Ile)
|
|
|
NM_004006.3(DMD):c.3235G>T (p.Gly1079Trp)
|
|
|
NM_004006.3(DMD):c.3248T>A (p.Ile1083Asn)
|
rs2148427517
|
|
NM_004006.3(DMD):c.3254A>C (p.Lys1085Thr)
|
|
|
NM_004006.3(DMD):c.3254A>G (p.Lys1085Arg)
|
rs2148427430
|
|
NM_004006.3(DMD):c.3257A>G (p.Lys1086Arg)
|
|
|
NM_004006.3(DMD):c.325G>C (p.Gly109Arg)
|
rs1060502658
|
|
NM_004006.3(DMD):c.3266A>G (p.Lys1089Arg)
|
rs2148427282
|
|
NM_004006.3(DMD):c.3270G>T (p.Gln1090His)
|
rs373475857
|
|
NM_004006.3(DMD):c.3271T>G (p.Cys1091Gly)
|
rs1569563736
|
|
NM_004006.3(DMD):c.3276+5G>A
|
|
|
NM_004006.3(DMD):c.3276+6A>G
|
|
|
NM_004006.3(DMD):c.3277C>A (p.Leu1093Ile)
|
|
|
NM_004006.3(DMD):c.3296A>T (p.Gln1099Leu)
|
|
|
NM_004006.3(DMD):c.3299C>G (p.Thr1100Arg)
|
rs2148419733
|
|
NM_004006.3(DMD):c.3301A>G (p.Ile1101Val)
|
|
|
NM_004006.3(DMD):c.3306G>T (p.Gln1102His)
|
rs2148419656
|
|
NM_004006.3(DMD):c.3307C>T (p.Pro1103Ser)
|
rs2148419633
|
|
NM_004006.3(DMD):c.330G>C (p.Leu110Phe)
|
rs2148850115
|
|
NM_004006.3(DMD):c.3311G>A (p.Ser1104Asn)
|
rs1009754942
|
|
NM_004006.3(DMD):c.3317A>T (p.Asn1106Ile)
|
rs1346521535
|
|
NM_004006.3(DMD):c.3318C>G (p.Asn1106Lys)
|
|
|
NM_004006.3(DMD):c.331A>C (p.Ile111Leu)
|
rs2078431806
|
|
NM_004006.3(DMD):c.3320G>T (p.Ser1107Ile)
|
|
|
NM_004006.3(DMD):c.332T>A (p.Ile111Asn)
|
rs1603441549
|
|
NM_004006.3(DMD):c.3331G>A (p.Gly1111Ser)
|
rs2098390878
|
|
NM_004006.3(DMD):c.3334G>A (p.Gly1112Arg)
|
rs777598938
|
|
NM_004006.3(DMD):c.3339G>A (p.Gln1113=)
|
|
|
NM_004006.3(DMD):c.3343A>C (p.Ile1115Leu)
|
rs2098390848
|
|
NM_004006.3(DMD):c.3347A>T (p.Lys1116Met)
|
|
|
NM_004006.3(DMD):c.3356C>T (p.Ala1119Val)
|
|
|
NM_004006.3(DMD):c.3359A>T (p.Glu1120Val)
|
|
|
NM_004006.3(DMD):c.3361C>G (p.Pro1121Ala)
|
|
|
NM_004006.3(DMD):c.3362C>G (p.Pro1121Arg)
|
rs1557369441
|
|
NM_004006.3(DMD):c.3362C>T (p.Pro1121Leu)
|
rs1557369441
|
|
NM_004006.3(DMD):c.3365A>C (p.Glu1122Ala)
|
|
|
NM_004006.3(DMD):c.3374C>G (p.Ser1125Trp)
|
|
|
NM_004006.3(DMD):c.3374C>T (p.Ser1125Leu)
|
rs374744331
|
|
NM_004006.3(DMD):c.3376A>G (p.Arg1126Gly)
|
|
|
NM_004006.3(DMD):c.3383A>T (p.Glu1128Val)
|
|
|
NM_004006.3(DMD):c.3395A>G (p.Lys1132Arg)
|
|
|
NM_004006.3(DMD):c.3399A>C (p.Glu1133Asp)
|
|
|
NM_004006.3(DMD):c.3422T>G (p.Met1141Arg)
|
rs886042873
|
|
NM_004006.3(DMD):c.3424T>C (p.Cys1142Arg)
|
rs772957337
|
|
NM_004006.3(DMD):c.3424T>G (p.Cys1142Gly)
|
|
|
NM_004006.3(DMD):c.3428A>G (p.Gln1143Arg)
|
|
|
NM_004006.3(DMD):c.3432+4T>C
|
|
|
NM_004006.3(DMD):c.3433G>A (p.Val1145Ile)
|
rs767442827
|
|
NM_004006.3(DMD):c.3449A>G (p.Glu1150Gly)
|
|
|
NM_004006.3(DMD):c.3452C>A (p.Ala1151Asp)
|
|
|
NM_004006.3(DMD):c.3452C>G (p.Ala1151Gly)
|
|
|
NM_004006.3(DMD):c.3475A>C (p.Thr1159Pro)
|
|
|
NM_004006.3(DMD):c.3478G>T (p.Val1160Leu)
|
|
|
NM_004006.3(DMD):c.3484C>T (p.Leu1162Phe)
|
rs2098349210
|
|
NM_004006.3(DMD):c.3488A>C (p.Gln1163Pro)
|
|
|
NM_004006.3(DMD):c.3493G>C (p.Asp1165His)
|
|
|
NM_004006.3(DMD):c.3493G>T (p.Asp1165Tyr)
|
|
|
NM_004006.3(DMD):c.3496C>A (p.Leu1166Ile)
|
|
|
NM_004006.3(DMD):c.3506T>C (p.Met1169Thr)
|
|
|
NM_004006.3(DMD):c.3510C>G (p.His1170Gln)
|
|
|
NM_004006.3(DMD):c.3515G>T (p.Trp1172Leu)
|
|
|
NM_004006.3(DMD):c.3519G>T (p.Met1173Ile)
|
rs2148348911
|
|
NM_004006.3(DMD):c.352T>C (p.Trp118Arg)
|
rs886044589
|
|
NM_004006.3(DMD):c.3533A>C (p.Glu1178Ala)
|
|
|
NM_004006.3(DMD):c.3536A>G (p.Glu1179Gly)
|
|
|
NM_004006.3(DMD):c.3547A>G (p.Arg1183Gly)
|
|
|
NM_004006.3(DMD):c.354G>C (p.Trp118Cys)
|
rs2148849959
|
|
NM_004006.3(DMD):c.3557A>T (p.Glu1186Val)
|
|
|
NM_004006.3(DMD):c.3562A>G (p.Lys1188Glu)
|
rs2148348451
|
|
NM_004006.3(DMD):c.3568C>T (p.Pro1190Ser)
|
|
|
NM_004006.3(DMD):c.357+1_357+2dup
|
|
|
NM_004006.3(DMD):c.3584A>C (p.Lys1195Thr)
|
rs2148348244
|
|
NM_004006.3(DMD):c.3592G>A (p.Glu1198Lys)
|
|
|
NM_004006.3(DMD):c.3600G>A (p.Met1200Ile)
|
|
|
NM_004006.3(DMD):c.3603+2_3603+3insC
|
rs1603633860
|
|
NM_004006.3(DMD):c.3603+5_3603+6insG
|
rs2098348471
|
|
NM_004006.3(DMD):c.3603G>T (p.Lys1201Asn)
|
rs1265370991
|
|
NM_004006.3(DMD):c.3604-16_3604-15del
|
|
|
NM_004006.3(DMD):c.3606A>C (p.Arg1202Ser)
|
|
|
NM_004006.3(DMD):c.3607G>A (p.Ala1203Thr)
|
rs1569562950
|
|
NM_004006.3(DMD):c.3607G>T (p.Ala1203Ser)
|
|
|
NM_004006.3(DMD):c.3610A>G (p.Lys1204Glu)
|
|
|
NM_004006.3(DMD):c.3612A>T (p.Lys1204Asn)
|
|
|
NM_004006.3(DMD):c.3637A>G (p.Lys1213Glu)
|
rs886043133
|
|
NM_004006.3(DMD):c.3639A>G (p.Lys1213=)
|
|
|
NM_004006.3(DMD):c.3643A>C (p.Lys1215Gln)
|
|
|
NM_004006.3(DMD):c.3643A>G (p.Lys1215Glu)
|
|
|
NM_004006.3(DMD):c.3644A>G (p.Lys1215Arg)
|
|
|
NM_004006.3(DMD):c.3646C>T (p.Leu1216Phe)
|
|
|
NM_004006.3(DMD):c.3647T>C (p.Leu1216Pro)
|
rs1569562944
|
|
NM_004006.3(DMD):c.365A>C (p.Asn122Thr)
|
rs1603437369
|
|
NM_004006.3(DMD):c.365A>G (p.Asn122Ser)
|
|
|
NM_004006.3(DMD):c.3668G>C (p.Ser1223Thr)
|
|
|
NM_004006.3(DMD):c.3676G>C (p.Ala1226Pro)
|
|
|
NM_004006.3(DMD):c.3679C>G (p.Gln1227Glu)
|
rs1569562941
|
|
NM_004006.3(DMD):c.3695C>T (p.Ala1232Val)
|
rs2148288127
|
|
NM_004006.3(DMD):c.3700G>A (p.Glu1234Lys)
|
|
|
NM_004006.3(DMD):c.3704C>T (p.Ala1235Val)
|
|
|
NM_004006.3(DMD):c.370A>G (p.Met124Val)
|
|
|
NM_004006.3(DMD):c.3718C>A (p.Leu1240Ile)
|
rs1557362186
|
|
NM_004006.3(DMD):c.3727C>A (p.Leu1243Ile)
|
|
|
NM_004006.3(DMD):c.3728T>A (p.Leu1243Gln)
|
|
|
NM_004006.3(DMD):c.3745T>C (p.Trp1249Arg)
|
rs2148287590
|
|
NM_004006.3(DMD):c.3745T>G (p.Trp1249Gly)
|
|
|
NM_004006.3(DMD):c.3747G>T (p.Trp1249Cys)
|
|
|
NM_004006.3(DMD):c.374A>C (p.Lys125Thr)
|
rs777958392
|
|
NM_004006.3(DMD):c.374A>T (p.Lys125Ile)
|
|
|
NM_004006.3(DMD):c.3752G>C (p.Cys1251Ser)
|
rs2148287508
|
|
NM_004006.3(DMD):c.3755C>T (p.Thr1252Ile)
|
|
|
NM_004006.3(DMD):c.376A>T (p.Asn126Tyr)
|
|
|
NM_004006.3(DMD):c.3774C>T (p.Cys1258=)
|
rs1569562933
|
|
NM_004006.3(DMD):c.3778A>G (p.Thr1260Ala)
|
rs886043957
|
|
NM_004006.3(DMD):c.3779C>A (p.Thr1260Asn)
|
|
|
NM_004006.3(DMD):c.3782T>C (p.Leu1261Ser)
|
|
|
NM_004006.3(DMD):c.3786+2_3786+3dup
|
rs2098314571
|
|
NM_004006.3(DMD):c.3795G>T (p.Trp1265Cys)
|
|
|
NM_004006.3(DMD):c.379A>C (p.Ile127Leu)
|
rs748643562
|
|
NM_004006.3(DMD):c.379A>G (p.Ile127Val)
|
|
|
NM_004006.3(DMD):c.3800G>T (p.Cys1267Phe)
|
rs2098280665
|
|
NM_004006.3(DMD):c.3806A>C (p.His1269Pro)
|
rs775892814
|
|
NM_004006.3(DMD):c.3806A>T (p.His1269Leu)
|
|
|
NM_004006.3(DMD):c.3809A>T (p.Glu1270Val)
|
rs2148222681
|
|
NM_004006.3(DMD):c.3810G>C (p.Glu1270Asp)
|
|
|
NM_004006.3(DMD):c.3812T>C (p.Leu1271Ser)
|
rs2148222634
|
|
NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)
|
rs760733415
|
|
NM_004006.3(DMD):c.3817T>C (p.Ser1273Pro)
|
rs2098280582
|
|
NM_004006.3(DMD):c.3825G>T (p.Leu1275Phe)
|
|
|
NM_004006.3(DMD):c.3841T>C (p.Trp1281Arg)
|
rs886043387
|
|
NM_004006.3(DMD):c.3850G>A (p.Glu1284Lys)
|
rs1557359192
|
|
NM_004006.3(DMD):c.3858A>C (p.Glu1286Asp)
|
|
|
NM_004006.3(DMD):c.3868A>G (p.Lys1290Glu)
|
rs2148221941
|
|
NM_004006.3(DMD):c.3875C>T (p.Thr1292Ile)
|
rs1603633538
|
|
NM_004006.3(DMD):c.3887C>T (p.Pro1296Leu)
|
|
|
NM_004006.3(DMD):c.3893G>T (p.Gly1298Val)
|
rs1603633536
|
|
NM_004006.3(DMD):c.3903A>C (p.Glu1301Asp)
|
rs2148221497
|
|
NM_004006.3(DMD):c.3905T>C (p.Ile1302Thr)
|
|
|
NM_004006.3(DMD):c.3908C>T (p.Ser1303Phe)
|
|
|
NM_004006.3(DMD):c.3910G>C (p.Glu1304Gln)
|
|
|
NM_004006.3(DMD):c.3913G>C (p.Val1305Leu)
|
|
|
NM_004006.3(DMD):c.3916C>G (p.Leu1306Val)
|
|
|
NM_004006.3(DMD):c.3919G>A (p.Asp1307Asn)
|
|
|
NM_004006.3(DMD):c.3921+5G>C
|
rs2098280253
|
|
NM_004006.3(DMD):c.3921T>C (p.Asp1307=)
|
|
|
NM_004006.3(DMD):c.3922-29_4003dup
|
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.3925C>G (p.Leu1309Val)
|
rs1060502642
|
|
NM_004006.3(DMD):c.3925C>T (p.Leu1309Phe)
|
rs1060502642
|
|
NM_004006.3(DMD):c.3937A>C (p.Met1313Leu)
|
|
|
NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu)
|
rs2098269308
|
|
NM_004006.3(DMD):c.3957C>A (p.Asn1319Lys)
|
|
|
NM_004006.3(DMD):c.3964C>G (p.Gln1322Glu)
|
|
|
NM_004006.3(DMD):c.3973A>C (p.Ile1325Leu)
|
|
|
NM_004006.3(DMD):c.3973A>G (p.Ile1325Val)
|
|
|
NM_004006.3(DMD):c.3975A>G (p.Ile1325Met)
|
|
|
NM_004006.3(DMD):c.3983A>G (p.Gln1328Arg)
|
|
|
NM_004006.3(DMD):c.3986C>A (p.Thr1329Asn)
|
rs770827878
|
|
NM_004006.3(DMD):c.3995A>G (p.Asp1332Gly)
|
|
|
NM_004006.3(DMD):c.3998G>A (p.Gly1333Asp)
|
rs2098269163
|
|
NM_004006.3(DMD):c.39A>C (p.Arg13Ser)
|
|
|
NM_004006.3(DMD):c.4000G>C (p.Gly1334Arg)
|
|
|
NM_004006.3(DMD):c.4009G>T (p.Asp1337Tyr)
|
|
|
NM_004006.3(DMD):c.401C>A (p.Thr134Asn)
|
|
|
NM_004006.3(DMD):c.4021A>G (p.Asn1341Asp)
|
|
|
NM_004006.3(DMD):c.4022A>G (p.Asn1341Ser)
|
rs2098269107
|
|
NM_004006.3(DMD):c.4033G>C (p.Glu1345Gln)
|
rs2148193515
|
|
NM_004006.3(DMD):c.4036A>C (p.Thr1346Pro)
|
|
|
NM_004006.3(DMD):c.4037C>T (p.Thr1346Ile)
|
rs766890056
|
|
NM_004006.3(DMD):c.4039T>C (p.Phe1347Leu)
|
|
|
NM_004006.3(DMD):c.4045T>A (p.Ser1349Thr)
|
|
|
NM_004006.3(DMD):c.4046C>T (p.Ser1349Phe)
|
|
|
NM_004006.3(DMD):c.4051T>C (p.Trp1351Arg)
|
rs2098269032
|
|
NM_004006.3(DMD):c.4052G>T (p.Trp1351Leu)
|
|
|
NM_004006.3(DMD):c.4057G>A (p.Glu1353Lys)
|
|
|
NM_004006.3(DMD):c.4058A>G (p.Glu1353Gly)
|
|
|
NM_004006.3(DMD):c.4059A>T (p.Glu1353Asp)
|
rs1287715135
|
|
NM_004006.3(DMD):c.406A>G (p.Ser136Gly)
|
|
|
NM_004006.3(DMD):c.4071+5G>A
|
|
|
NM_004006.3(DMD):c.4071G>C (p.Glu1357Asp)
|
rs398123947
|
|
NM_004006.3(DMD):c.4075G>A (p.Val1359Ile)
|
|
|
NM_004006.3(DMD):c.4082G>A (p.Arg1361Lys)
|
rs753639717
|
|
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr)
|
rs753639717
|
|
NM_004006.3(DMD):c.4090T>G (p.Leu1364Val)
|
rs1252905257
|
|
NM_004006.3(DMD):c.4092G>C (p.Leu1364Phe)
|
rs1603632896
|
|
NM_004006.3(DMD):c.4102A>G (p.Ser1368Gly)
|
rs1557340477
|
|
NM_004006.3(DMD):c.4123A>G (p.Thr1375Ala)
|
rs2147935928
|
|
NM_004006.3(DMD):c.4130A>C (p.Lys1377Thr)
|
|
|
NM_004006.3(DMD):c.4138C>T (p.His1380Tyr)
|
|
|
NM_004006.3(DMD):c.4139A>G (p.His1380Arg)
|
rs2098143120
|
|
NM_004006.3(DMD):c.4140C>G (p.His1380Gln)
|
|
|
NM_004006.3(DMD):c.4143A>T (p.Leu1381Phe)
|
rs2098143108
|
|
NM_004006.3(DMD):c.4148A>G (p.Gln1383Arg)
|
|
|
NM_004006.3(DMD):c.4166T>C (p.Ile1389Thr)
|
rs2147935115
|
|
NM_004006.3(DMD):c.4168G>A (p.Asp1390Asn)
|
|
|
NM_004006.3(DMD):c.416T>C (p.Ile139Thr)
|
rs2148807220
|
|
NM_004006.3(DMD):c.4170C>G (p.Asp1390Glu)
|
rs886043687
|
|
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg)
|
rs1603632892
|
|
NM_004006.3(DMD):c.4186T>A (p.Tyr1396Asn)
|
|
|
NM_004006.3(DMD):c.4187A>G (p.Tyr1396Cys)
|
|
|
NM_004006.3(DMD):c.4190T>C (p.Ile1397Thr)
|
rs974271827
|
|
NM_004006.3(DMD):c.4199A>G (p.Lys1400Arg)
|
|
|
NM_004006.3(DMD):c.4210G>C (p.Ala1404Pro)
|
|
|
NM_004006.3(DMD):c.4214A>T (p.Gln1405Leu)
|
rs2098142833
|
|
NM_004006.3(DMD):c.4220C>A (p.Pro1407His)
|
|
|
NM_004006.3(DMD):c.4223A>G (p.Gln1408Arg)
|
|
|
NM_004006.3(DMD):c.4227A>T (p.Glu1409Asp)
|
|
|
NM_004006.3(DMD):c.4232A>G (p.Gln1411Arg)
|
|
|
NM_004006.3(DMD):c.4233+4A>C
|
rs1060502617
|
|
NM_004006.3(DMD):c.4234-3C>T
|
|
|
NM_004006.3(DMD):c.4235_4237dup (p.Lys1412dup)
|
rs2097991507
|
|
NM_004006.3(DMD):c.4241A>G (p.Gln1414Arg)
|
rs562517517
|
|
NM_004006.3(DMD):c.4243T>A (p.Ser1415Thr)
|
|
|
NM_004006.3(DMD):c.424A>G (p.Ser142Gly)
|
rs1010307830
|
|
NM_004006.3(DMD):c.424A>T (p.Ser142Cys)
|
|
|
NM_004006.3(DMD):c.4259A>G (p.His1420Arg)
|
|
|
NM_004006.3(DMD):c.4268G>C (p.Ser1423Thr)
|
|
|
NM_004006.3(DMD):c.4274A>C (p.Glu1425Ala)
|
|
|
NM_004006.3(DMD):c.4281G>A (p.Met1427Ile)
|
|
|
NM_004006.3(DMD):c.4289A>G (p.His1430Arg)
|
rs1603632327
|
|
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)
|
rs1603632326
|
|
NM_004006.3(DMD):c.4296G>C (p.Gln1432His)
|
rs747262903
|
|
NM_004006.3(DMD):c.4298G>A (p.Gly1433Glu)
|
|
|
NM_004006.3(DMD):c.4303G>A (p.Glu1435Lys)
|
|
|
NM_004006.3(DMD):c.4304A>G (p.Glu1435Gly)
|
|
|
NM_004006.3(DMD):c.4306G>A (p.Ala1436Thr)
|
|
|
NM_004006.3(DMD):c.4307C>A (p.Ala1436Asp)
|
rs886042798
|
|
NM_004006.3(DMD):c.4309G>T (p.Ala1437Ser)
|
rs886043766
|
|
NM_004006.3(DMD):c.4318G>A (p.Val1440Ile)
|
|
|
NM_004006.3(DMD):c.4319T>A (p.Val1440Asp)
|
|
|
NM_004006.3(DMD):c.4334A>G (p.Asp1445Gly)
|
|
|
NM_004006.3(DMD):c.4335T>A (p.Asp1445Glu)
|
|
|
NM_004006.3(DMD):c.433C>G (p.Arg145Gly)
|
rs128626235
|
|
NM_004006.3(DMD):c.4343A>T (p.Gln1448Leu)
|
|
|
NM_004006.3(DMD):c.4344+4T>G
|
|
|
NM_004006.3(DMD):c.4344+6T>A
|
|
|
NM_004006.3(DMD):c.4354C>G (p.Gln1452Glu)
|
|
|
NM_004006.3(DMD):c.4358A>G (p.Asp1453Gly)
|
|
|
NM_004006.3(DMD):c.4390C>G (p.Pro1464Ala)
|
|
|
NM_004006.3(DMD):c.4394C>T (p.Ala1465Val)
|
rs755496708
|
|
NM_004006.3(DMD):c.4401T>G (p.Phe1467Leu)
|
|
|
NM_004006.3(DMD):c.4403A>G (p.Glu1468Gly)
|
|
|
NM_004006.3(DMD):c.4408C>T (p.Arg1470Cys)
|
|
|
NM_004006.3(DMD):c.4421G>A (p.Ser1474Asn)
|
rs398123956
|
|
NM_004006.3(DMD):c.4424A>C (p.Lys1475Thr)
|
|
|
NM_004006.3(DMD):c.442A>C (p.Thr148Pro)
|
rs2077778100
|
|
NM_004006.3(DMD):c.4435G>A (p.Asp1479Asn)
|
rs886044457
|
|
NM_004006.3(DMD):c.4447A>G (p.Met1483Val)
|
rs2147611951
|
|
NM_004006.3(DMD):c.4450C>A (p.His1484Asn)
|
|
|
NM_004006.3(DMD):c.4451A>C (p.His1484Pro)
|
|
|
NM_004006.3(DMD):c.4457C>A (p.Pro1486His)
|
|
|
NM_004006.3(DMD):c.4468A>C (p.Thr1490Pro)
|
rs2147611427
|
|
NM_004006.3(DMD):c.4468A>T (p.Thr1490Ser)
|
|
|
NM_004006.3(DMD):c.446G>C (p.Arg149Pro)
|
rs771307588
|
|
NM_004006.3(DMD):c.4471A>G (p.Lys1491Glu)
|
rs1215768839
|
|
NM_004006.3(DMD):c.4477G>A (p.Val1493Met)
|
rs2097986154
|
|
NM_004006.3(DMD):c.4477G>T (p.Val1493Leu)
|
rs2097986154
|
|
NM_004006.3(DMD):c.4483C>A (p.Gln1495Lys)
|
|
|
NM_004006.3(DMD):c.4490T>C (p.Val1497Ala)
|
|
|
NM_004006.3(DMD):c.4508A>C (p.Asn1503Thr)
|
rs2097985832
|
|
NM_004006.3(DMD):c.4511A>G (p.His1504Arg)
|
|
|
NM_004006.3(DMD):c.4513T>C (p.Cys1505Arg)
|
|
|
NM_004006.3(DMD):c.4516G>C (p.Val1506Leu)
|
|
|
NM_004006.3(DMD):c.4518+5G>C
|
rs398123960
|
|
NM_004006.3(DMD):c.4519-7A>G
|
|
|
NM_004006.3(DMD):c.4528A>G (p.Lys1510Glu)
|
|
|
NM_004006.3(DMD):c.4537A>C (p.Ser1513Arg)
|
rs1569560628
|
|
NM_004006.3(DMD):c.455C>T (p.Pro152Leu)
|
|
|
NM_004006.3(DMD):c.4569A>G (p.Ile1523Met)
|
|
|
NM_004006.3(DMD):c.4573A>G (p.Thr1525Ala)
|
rs751320057
|
|
NM_004006.3(DMD):c.4580G>A (p.Arg1527His)
|
rs2097958484
|
|
NM_004006.3(DMD):c.4605_4606delinsTA (p.Glu1536Lys)
|
rs2147558571
|
|
NM_004006.3(DMD):c.4612C>T (p.Pro1538Ser)
|
|
|
NM_004006.3(DMD):c.4615A>G (p.Lys1539Glu)
|
|
|
NM_004006.3(DMD):c.4634T>C (p.Val1545Ala)
|
rs2097958214
|
|
NM_004006.3(DMD):c.464A>G (p.Asn155Ser)
|
rs2148806581
|
|
NM_004006.3(DMD):c.4660G>A (p.Glu1554Lys)
|
rs1216000876
|
|
NM_004006.3(DMD):c.4664T>G (p.Leu1555Arg)
|
rs2147557285
|
|
NM_004006.3(DMD):c.4667G>C (p.Gly1556Ala)
|
rs2147557186
|
|
NM_004006.3(DMD):c.466G>A (p.Val156Ile)
|
|
|
NM_004006.3(DMD):c.4672A>C (p.Lys1558Gln)
|
|
|
NM_004006.3(DMD):c.4674+5G>A
|
|
|
NM_004006.3(DMD):c.4674G>A (p.Lys1558=)
|
|
|
NM_004006.3(DMD):c.4679C>T (p.Thr1560Ile)
|
|
|
NM_004006.3(DMD):c.4687A>G (p.Lys1563Glu)
|
|
|
NM_004006.3(DMD):c.4688A>G (p.Lys1563Arg)
|
|
|
NM_004006.3(DMD):c.4691A>G (p.Gln1564Arg)
|
rs2097921065
|
|
NM_004006.3(DMD):c.4693C>G (p.Gln1565Glu)
|
rs1603632117
|
|
NM_004006.3(DMD):c.469A>C (p.Ile157Leu)
|
rs773473691
|
|
NM_004006.3(DMD):c.4705T>C (p.Cys1569Arg)
|
rs2097921010
|
|
NM_004006.3(DMD):c.4717T>C (p.Ser1573Pro)
|
|
|
NM_004006.3(DMD):c.4730G>T (p.Arg1577Leu)
|
rs753830915
|
|
NM_004006.3(DMD):c.4739T>C (p.Met1580Thr)
|
|
|
NM_004006.3(DMD):c.4739T>G (p.Met1580Arg)
|
rs764192677
|
|
NM_004006.3(DMD):c.473A>C (p.Asn158Thr)
|
rs2077775713
|
|
NM_004006.3(DMD):c.474C>A (p.Asn158Lys)
|
rs1324314201
|
|
NM_004006.3(DMD):c.474C>G (p.Asn158Lys)
|
|
|
NM_004006.3(DMD):c.4763C>T (p.Ala1588Val)
|
|
|
NM_004006.3(DMD):c.4769C>T (p.Thr1590Ile)
|
rs907514288
|
|
NM_004006.3(DMD):c.4771G>T (p.Asp1591Tyr)
|
|
|
NM_004006.3(DMD):c.4772A>G (p.Asp1591Gly)
|
|
|
NM_004006.3(DMD):c.4773_4778del (p.Asp1591_Met1592del)
|
rs2147470879
|
|
NM_004006.3(DMD):c.4774A>G (p.Met1592Val)
|
|
|
NM_004006.3(DMD):c.4784C>T (p.Thr1595Ile)
|
|
|
NM_004006.3(DMD):c.4790G>A (p.Arg1597Lys)
|
|
|
NM_004006.3(DMD):c.4808T>C (p.Met1603Thr)
|
rs2147470301
|
|
NM_004006.3(DMD):c.4811C>G (p.Pro1604Arg)
|
rs747218608
|
|
NM_004006.3(DMD):c.4813A>G (p.Ser1605Gly)
|
rs778702600
|
|
NM_004006.3(DMD):c.4834G>T (p.Ala1612Ser)
|
|
|
NM_004006.3(DMD):c.4837T>A (p.Trp1613Arg)
|
|
|
NM_004006.3(DMD):c.4842A>T (p.Gly1614=)
|
rs398123968
|
|
NM_004006.3(DMD):c.4845+3A>G
|
|
|
NM_004006.3(DMD):c.4845+5A>C
|
|
|
NM_004006.3(DMD):c.4845G>A (p.Lys1615=)
|
rs1557315896
|
|
NM_004006.3(DMD):c.4845G>C (p.Lys1615Asn)
|
rs1557315896
|
|
NM_004006.3(DMD):c.4845G>T (p.Lys1615Asn)
|
|
|
NM_004006.3(DMD):c.4846-3C>G
|
|
|
NM_004006.3(DMD):c.4847C>T (p.Ala1616Val)
|
rs370167370
|
|
NM_004006.3(DMD):c.4850C>T (p.Thr1617Ile)
|
|
|
NM_004006.3(DMD):c.4853A>C (p.Gln1618Pro)
|
|
|
NM_004006.3(DMD):c.4857_4859del (p.Glu1620del)
|
|
|
NM_004006.3(DMD):c.4858G>C (p.Glu1620Gln)
|
rs1060502645
|
|
NM_004006.3(DMD):c.4859A>G (p.Glu1620Gly)
|
|
|
NM_004006.3(DMD):c.4864G>A (p.Glu1622Lys)
|
|
|
NM_004006.3(DMD):c.4867A>G (p.Lys1623Glu)
|
|
|
NM_004006.3(DMD):c.4870C>G (p.Gln1624Glu)
|
|
|
NM_004006.3(DMD):c.4879C>T (p.His1627Tyr)
|
|
|
NM_004006.3(DMD):c.487T>A (p.Trp163Arg)
|
rs2077774276
|
|
NM_004006.3(DMD):c.4882C>A (p.Leu1628Met)
|
rs1172674386
|
|
NM_004006.3(DMD):c.488G>T (p.Trp163Leu)
|
|
|
NM_004006.3(DMD):c.4890T>A (p.Ser1630Arg)
|
rs1603631755
|
|
NM_004006.3(DMD):c.4894A>T (p.Thr1632Ser)
|
|
|
NM_004006.3(DMD):c.4895C>T (p.Thr1632Ile)
|
rs2147260815
|
|
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp)
|
rs886044407
|
|
NM_004006.3(DMD):c.4909G>A (p.Ala1637Thr)
|
rs2097850083
|
|
NM_004006.3(DMD):c.4910C>A (p.Ala1637Asp)
|
|
|
NM_004006.3(DMD):c.4926G>C (p.Leu1642Phe)
|
rs2147260154
|
|
NM_004006.3(DMD):c.4928G>C (p.Gly1643Ala)
|
|
|
NM_004006.3(DMD):c.4930A>C (p.Lys1644Gln)
|
|
|
NM_004006.3(DMD):c.4937A>G (p.Glu1646Gly)
|
|
|
NM_004006.3(DMD):c.4943T>C (p.Leu1648Ser)
|
|
|
NM_004006.3(DMD):c.494A>T (p.Asp165Val)
|
rs1557052542
|
|
NM_004006.3(DMD):c.4960A>G (p.Ser1654Gly)
|
rs2147259553
|
|
NM_004006.3(DMD):c.4967T>A (p.Leu1656Gln)
|
|
|
NM_004006.3(DMD):c.4970A>C (p.Asn1657Thr)
|
|
|
NM_004006.3(DMD):c.4973G>A (p.Ser1658Asn)
|
rs794728999
|
|
NM_004006.3(DMD):c.4976A>G (p.Asn1659Ser)
|
|
|
NM_004006.3(DMD):c.497G>T (p.Gly166Val)
|
rs1557052538
|
|
NM_004006.3(DMD):c.4987G>A (p.Val1663Ile)
|
rs2147259228
|
|
NM_004006.3(DMD):c.4994C>G (p.Ser1665Cys)
|
|
|
NM_004006.3(DMD):c.4997G>T (p.Arg1666Leu)
|
|
|
NM_004006.3(DMD):c.5008T>G (p.Trp1670Gly)
|
|
|
NM_004006.3(DMD):c.5009G>C (p.Trp1670Ser)
|
|
|
NM_004006.3(DMD):c.5015A>C (p.Asn1672Thr)
|
|
|
NM_004006.3(DMD):c.5026-10T>G
|
|
|
NM_004006.3(DMD):c.5041A>G (p.Met1681Val)
|
|
|
NM_004006.3(DMD):c.5043G>A (p.Met1681Ile)
|
rs1045187121
|
|
NM_004006.3(DMD):c.5044G>A (p.Glu1682Lys)
|
rs2147254367
|
|
NM_004006.3(DMD):c.5047A>C (p.Thr1683Pro)
|
rs1057515873
|
|
NM_004006.3(DMD):c.5048C>A (p.Thr1683Asn)
|
|
|
NM_004006.3(DMD):c.5051T>C (p.Phe1684Ser)
|
|
|
NM_004006.3(DMD):c.5054A>T (p.Asp1685Val)
|
|
|
NM_004006.3(DMD):c.5058G>C (p.Gln1686His)
|
|
|
NM_004006.3(DMD):c.5059A>G (p.Asn1687Asp)
|
|
|
NM_004006.3(DMD):c.5063T>C (p.Val1688Ala)
|
|
|
NM_004006.3(DMD):c.5068_5070del (p.His1690del)
|
rs761764494
|
|
NM_004006.3(DMD):c.5075C>G (p.Thr1692Arg)
|
|
|
NM_004006.3(DMD):c.5082G>T (p.Trp1694Cys)
|
|
|
NM_004006.3(DMD):c.5083A>C (p.Ile1695Leu)
|
|
|
NM_004006.3(DMD):c.5086A>T (p.Ile1696Phe)
|
|
|
NM_004006.3(DMD):c.5107G>A (p.Asp1703Asn)
|
|
|
NM_004006.3(DMD):c.5127A>C (p.Lys1709Asn)
|
|
|
NM_004006.3(DMD):c.5133G>C (p.Gln1711His)
|
rs771957811
|
|
NM_004006.3(DMD):c.5134C>G (p.Gln1712Glu)
|
|
|
NM_004006.3(DMD):c.5139AGA[1] (p.Glu1714del)
|
|
|
NM_004006.3(DMD):c.5149C>A (p.Leu1717Ile)
|
rs769383291
|
|
NM_004006.3(DMD):c.5155-16T>A
|
|
|
NM_004006.3(DMD):c.5155-3T>C
|
|
|
NM_004006.3(DMD):c.5155-9G>A
|
|
|
NM_004006.3(DMD):c.5180T>C (p.Ile1727Thr)
|
|
|
NM_004006.3(DMD):c.5183G>C (p.Arg1728Pro)
|
|
|
NM_004006.3(DMD):c.5188A>C (p.Lys1730Gln)
|
rs1473732566
|
|
NM_004006.3(DMD):c.5190G>T (p.Lys1730Asn)
|
rs1395872786
|
|
NM_004006.3(DMD):c.5195A>G (p.Asp1732Gly)
|
rs2097842164
|
|
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala)
|
rs2097842153
|
|
NM_004006.3(DMD):c.5201C>A (p.Thr1734Lys)
|
|
|
NM_004006.3(DMD):c.5203C>A (p.Arg1735Ser)
|
rs147904018
|
|
NM_004006.3(DMD):c.5212G>A (p.Ala1738Thr)
|
rs2147234161
|
|
NM_004006.3(DMD):c.5213C>T (p.Ala1738Val)
|
|
|
NM_004006.3(DMD):c.5216C>T (p.Ala1739Val)
|
|
|
NM_004006.3(DMD):c.523A>C (p.Ser175Arg)
|
|
|
NM_004006.3(DMD):c.5242C>G (p.His1748Asp)
|
|
|
NM_004006.3(DMD):c.5243A>G (p.His1748Arg)
|
|
|
NM_004006.3(DMD):c.5258T>G (p.Val1753Gly)
|
|
|
NM_004006.3(DMD):c.5260G>A (p.Glu1754Lys)
|
|
|
NM_004006.3(DMD):c.5266C>G (p.Gln1756Glu)
|
|
|
NM_004006.3(DMD):c.5279T>C (p.Leu1760Pro)
|
rs2097841814
|
|
NM_004006.3(DMD):c.5285A>G (p.His1762Arg)
|
|
|
NM_004006.3(DMD):c.5288G>A (p.Arg1763Gln)
|
rs398123982
|
|
NM_004006.3(DMD):c.528T>A (p.His176Gln)
|
|
|
NM_004006.3(DMD):c.5296G>C (p.Ala1766Pro)
|
rs2147232676
|
|
NM_004006.3(DMD):c.5299A>C (p.Ile1767Leu)
|
|
|
NM_004006.3(DMD):c.531-10T>A
|
rs747522183
|
|
NM_004006.3(DMD):c.531-16T>A
|
|
|
NM_004006.3(DMD):c.5316G>T (p.Lys1772Asn)
|
|
|
NM_004006.3(DMD):c.5325+1730_5325+1758del
|
rs2147210128
|
|
NM_004006.3(DMD):c.5325+4G>C
|
|
|
NM_004006.3(DMD):c.5326-3T>A
|
rs1388215542
|
|
NM_004006.3(DMD):c.5329T>G (p.Ser1777Ala)
|
rs2097771512
|
|
NM_004006.3(DMD):c.5336C>G (p.Pro1779Arg)
|
rs2097771479
|
|
NM_004006.3(DMD):c.5351A>T (p.Glu1784Val)
|
rs2147065526
|
|
NM_004006.3(DMD):c.5355G>T (p.Gln1785His)
|
rs2147065441
|
|
NM_004006.3(DMD):c.5373A>T (p.Gln1791His)
|
|
|
NM_004006.3(DMD):c.5381T>G (p.Leu1794Arg)
|
|
|
NM_004006.3(DMD):c.5386C>A (p.Pro1796Thr)
|
|
|
NM_004006.3(DMD):c.5399A>C (p.Glu1800Ala)
|
|
|
NM_004006.3(DMD):c.5409G>T (p.Gln1803His)
|
|
|
NM_004006.3(DMD):c.5411G>A (p.Gly1804Glu)
|
|
|
NM_004006.3(DMD):c.5427G>C (p.Glu1809Asp)
|
rs2097771126
|
|
NM_004006.3(DMD):c.5428G>A (p.Glu1810Lys)
|
|
|
NM_004006.3(DMD):c.5450A>G (p.Asn1817Ser)
|
|
|
NM_004006.3(DMD):c.5457C>A (p.Asp1819Glu)
|
|
|
NM_004006.3(DMD):c.5460T>A (p.Asn1820Lys)
|
|
|
NM_004006.3(DMD):c.5465G>A (p.Gly1822Asp)
|
|
|
NM_004006.3(DMD):c.5468C>A (p.Thr1823Asn)
|
rs1465595838
|
|
NM_004006.3(DMD):c.5468C>T (p.Thr1823Ile)
|
rs1465595838
|
|
NM_004006.3(DMD):c.5471T>C (p.Val1824Ala)
|
|
|
NM_004006.3(DMD):c.5474A>G (p.Lys1825Arg)
|
|
|
NM_004006.3(DMD):c.5480T>G (p.Leu1827Trp)
|
|
|
NM_004006.3(DMD):c.5497A>G (p.Asn1833Asp)
|
|
|
NM_004006.3(DMD):c.54G>T (p.Lys18Asn)
|
rs2093886366
|
|
NM_004006.3(DMD):c.5504A>C (p.Gln1835Pro)
|
|
|
NM_004006.3(DMD):c.5511A>C (p.Arg1837Ser)
|
|
|
NM_004006.3(DMD):c.5512A>G (p.Ile1838Val)
|
rs2147032004
|
|
NM_004006.3(DMD):c.5516C>A (p.Thr1839Lys)
|
|
|
NM_004006.3(DMD):c.5516C>G (p.Thr1839Arg)
|
|
|
NM_004006.3(DMD):c.5520T>A (p.Asp1840Glu)
|
|
|
NM_004006.3(DMD):c.5521_5523dup (p.Glu1841_Arg1842insGlu)
|
|
|
NM_004006.3(DMD):c.5523G>C (p.Glu1841Asp)
|
|
|
NM_004006.3(DMD):c.5525G>T (p.Arg1842Ile)
|
rs376011686
|
|
NM_004006.3(DMD):c.5528A>T (p.Lys1843Met)
|
|
|
NM_004006.3(DMD):c.5537A>C (p.Glu1846Ala)
|
|
|
NM_004006.3(DMD):c.5544_5549del (p.1847IK[1])
|
rs780967715
|
|
NM_004006.3(DMD):c.5567C>A (p.Thr1856Lys)
|
|
|
NM_004006.3(DMD):c.5570A>T (p.Lys1857Ile)
|
|
|
NM_004006.3(DMD):c.5571A>C (p.Lys1857Asn)
|
|
|
NM_004006.3(DMD):c.5578G>T (p.Ala1860Ser)
|
|
|
NM_004006.3(DMD):c.5587-7T>A
|
|
|
NM_004006.3(DMD):c.5592G>T (p.Leu1864Phe)
|
rs2146992885
|
|
NM_004006.3(DMD):c.5593A>G (p.Arg1865Gly)
|
|
|
NM_004006.3(DMD):c.5594G>A (p.Arg1865Lys)
|
|
|
NM_004006.3(DMD):c.559G>C (p.Val187Leu)
|
|
|
NM_004006.3(DMD):c.5600_5602del (p.Gln1867del)
|
|
|
NM_004006.3(DMD):c.5603G>T (p.Arg1868Ile)
|
|
|
NM_004006.3(DMD):c.5608A>G (p.Lys1870Glu)
|
|
|
NM_004006.3(DMD):c.5611A>G (p.Lys1871Glu)
|
|
|
NM_004006.3(DMD):c.5612A>T (p.Lys1871Met)
|
rs2097753511
|
|
NM_004006.3(DMD):c.5615C>T (p.Ala1872Val)
|
rs200246327
|
|
NM_004006.3(DMD):c.5630A>T (p.His1877Leu)
|
|
|
NM_004006.3(DMD):c.563G>T (p.Cys188Phe)
|
rs2148751620
|
|
NM_004006.3(DMD):c.5648A>G (p.Lys1883Arg)
|
|
|
NM_004006.3(DMD):c.5650A>G (p.Arg1884Gly)
|
rs1557291149
|
|
NM_004006.3(DMD):c.5653C>A (p.Gln1885Lys)
|
rs1295935628
|
|
NM_004006.3(DMD):c.565C>A (p.Gln189Lys)
|
|
|
NM_004006.3(DMD):c.5660A>G (p.Asp1887Gly)
|
rs1239878805
|
|
NM_004006.3(DMD):c.5663A>G (p.Asp1888Gly)
|
|
|
NM_004006.3(DMD):c.5680G>A (p.Asp1894Asn)
|
|
|
NM_004006.3(DMD):c.5680G>C (p.Asp1894His)
|
rs1288134740
|
|
NM_004006.3(DMD):c.5681A>T (p.Asp1894Val)
|
|
|
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly)
|
rs376202643
|
|
NM_004006.3(DMD):c.5687T>C (p.Ile1896Thr)
|
|
|
NM_004006.3(DMD):c.568C>G (p.Gln190Glu)
|
|
|
NM_004006.3(DMD):c.5693A>C (p.Lys1898Thr)
|
rs794727662
|
|
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg)
|
rs794727662
|
|
NM_004006.3(DMD):c.5696A>C (p.Lys1899Thr)
|
|
|
NM_004006.3(DMD):c.5707C>G (p.Leu1903Val)
|
|
|
NM_004006.3(DMD):c.5711C>G (p.Pro1904Arg)
|
|
|
NM_004006.3(DMD):c.572C>T (p.Ser191Leu)
|
|
|
NM_004006.3(DMD):c.5735T>C (p.Ile1912Thr)
|
rs376375532
|
|
NM_004006.3(DMD):c.5739+6G>A
|
|
|
NM_004006.3(DMD):c.5740-10T>A
|
rs2148813751
|
|
NM_004006.3(DMD):c.5740-15G>T
|
rs2148813786
|
|
NM_004006.3(DMD):c.5740-16T>A
|
|
|
NM_004006.3(DMD):c.5749C>G (p.Arg1917Gly)
|
|
|
NM_004006.3(DMD):c.5750G>C (p.Arg1917Pro)
|
rs760528813
|
|
NM_004006.3(DMD):c.5750G>T (p.Arg1917Leu)
|
|
|
NM_004006.3(DMD):c.5752G>A (p.Glu1918Lys)
|
|
|
NM_004006.3(DMD):c.5757G>T (p.Leu1919Phe)
|
rs2148813593
|
|
NM_004006.3(DMD):c.5760GAA[2] (p.Lys1923del)
|
|
|
NM_004006.3(DMD):c.5762A>G (p.Lys1921Arg)
|
|
|
NM_004006.3(DMD):c.5765A>G (p.Lys1922Arg)
|
|
|
NM_004006.3(DMD):c.5772G>T (p.Glu1924Asp)
|
|
|
NM_004006.3(DMD):c.5775G>T (p.Glu1925Asp)
|
rs1800272
|
|
NM_004006.3(DMD):c.5779A>C (p.Asn1927His)
|
rs2097747500
|
|
NM_004006.3(DMD):c.5789G>T (p.Arg1930Leu)
|
|
|
NM_004006.3(DMD):c.578C>T (p.Thr193Ile)
|
|
|
NM_004006.3(DMD):c.5791A>T (p.Arg1931Trp)
|
|
|
NM_004006.3(DMD):c.5801A>T (p.Glu1934Val)
|
rs878854620
|
|
NM_004006.3(DMD):c.5817T>A (p.Asp1939Glu)
|
|
|
NM_004006.3(DMD):c.5827A>T (p.Met1943Leu)
|
rs181849614
|
|
NM_004006.3(DMD):c.5842A>G (p.Thr1948Ala)
|
|
|
NM_004006.3(DMD):c.5843C>T (p.Thr1948Ile)
|
|
|
NM_004006.3(DMD):c.5857A>G (p.Ser1953Gly)
|
rs2148812933
|
|
NM_004006.3(DMD):c.5858G>A (p.Ser1953Asn)
|
rs1430944728
|
|
NM_004006.3(DMD):c.5858G>C (p.Ser1953Thr)
|
rs1430944728
|
|
NM_004006.3(DMD):c.5861A>G (p.Lys1954Arg)
|
rs2148812890
|
|
NM_004006.3(DMD):c.5888T>C (p.Phe1963Ser)
|
|
|
NM_004006.3(DMD):c.5894A>G (p.Gln1965Arg)
|
rs2148812632
|
|
NM_004006.3(DMD):c.589G>A (p.Glu197Lys)
|
|
|
NM_004006.3(DMD):c.58A>C (p.Thr20Pro)
|
|
|
NM_004006.3(DMD):c.5906T>C (p.Leu1969Pro)
|
|
|
NM_004006.3(DMD):c.5908A>G (p.Asn1970Asp)
|
|
|
NM_004006.3(DMD):c.5910C>G (p.Asn1970Lys)
|
|
|
NM_004006.3(DMD):c.5911T>C (p.Phe1971Leu)
|
rs2148812491
|
|
NM_004006.3(DMD):c.5913T>G (p.Phe1971Leu)
|
|
|
NM_004006.3(DMD):c.5914G>T (p.Ala1972Ser)
|
rs1351121628
|
|
NM_004006.3(DMD):c.5917C>G (p.Gln1973Glu)
|
rs863225005
|
|
NM_004006.3(DMD):c.5919A>C (p.Gln1973His)
|
|
|
NM_004006.3(DMD):c.5922+3G>C
|
rs398124000
|
|
NM_004006.3(DMD):c.5922+5G>A
|
rs1603631217
|
|
NM_004006.3(DMD):c.5922+5G>T
|
rs1603631217
|
|
NM_004006.3(DMD):c.5929G>C (p.Val1977Leu)
|
rs1314263909
|
|
NM_004006.3(DMD):c.5932C>G (p.Arg1978Gly)
|
rs2097557042
|
|
NM_004006.3(DMD):c.5932C>T (p.Arg1978Cys)
|
rs2097557042
|
|
NM_004006.3(DMD):c.5941A>G (p.Thr1981Ala)
|
rs2097557010
|
|
NM_004006.3(DMD):c.5942C>G (p.Thr1981Arg)
|
rs140575687
|
|
NM_004006.3(DMD):c.595G>C (p.Ala199Pro)
|
rs1060502660
|
|
NM_004006.3(DMD):c.596C>A (p.Ala199Glu)
|
rs1557047884
|
|
NM_004006.3(DMD):c.5972T>G (p.Leu1991Trp)
|
|
|
NM_004006.3(DMD):c.5977A>G (p.Ile1993Val)
|
|
|
NM_004006.3(DMD):c.5977A>T (p.Ile1993Phe)
|
rs1187189771
|
|
NM_004006.3(DMD):c.5993C>T (p.Ser1998Phe)
|
|
|
NM_004006.3(DMD):c.5999A>T (p.Tyr2000Phe)
|
rs1603630432
|
|
NM_004006.3(DMD):c.6017A>C (p.His2006Pro)
|
rs2148595619
|
|
NM_004006.3(DMD):c.6017A>G (p.His2006Arg)
|
|
|
NM_004006.3(DMD):c.6025C>A (p.Gln2009Lys)
|
rs1569556943
|
|
NM_004006.3(DMD):c.6056A>G (p.Asn2019Ser)
|
|
|
NM_004006.3(DMD):c.6058G>T (p.Ala2020Ser)
|
rs765460659
|
|
NM_004006.3(DMD):c.6067C>A (p.Leu2023Ile)
|
rs869312948
|
|
NM_004006.3(DMD):c.6067C>G (p.Leu2023Val)
|
rs869312948
|
|
NM_004006.3(DMD):c.6067C>T (p.Leu2023Phe)
|
rs869312948
|
|
NM_004006.3(DMD):c.6079G>A (p.Asp2027Asn)
|
rs2148595093
|
|
NM_004006.3(DMD):c.6079G>C (p.Asp2027His)
|
rs2148595093
|
|
NM_004006.3(DMD):c.6082T>G (p.Phe2028Val)
|
rs2097556386
|
|
NM_004006.3(DMD):c.608C>G (p.Ala203Gly)
|
rs2148751075
|
|
NM_004006.3(DMD):c.6105G>T (p.Glu2035Asp)
|
|
|
NM_004006.3(DMD):c.6109T>G (p.Ser2037Ala)
|
|
|
NM_004006.3(DMD):c.610A>G (p.Arg204Gly)
|
rs2148751035
|
|
NM_004006.3(DMD):c.6117+6A>G
|
rs2148594756
|
|
NM_004006.3(DMD):c.6118-14T>G
|
|
|
NM_004006.3(DMD):c.612A>G (p.Arg204=)
|
rs2077190196
|
|
NM_004006.3(DMD):c.612A>T (p.Arg204Ser)
|
rs2077190196
|
|
NM_004006.3(DMD):c.6155T>C (p.Ile2052Thr)
|
|
|
NM_004006.3(DMD):c.6163A>G (p.Ile2055Val)
|
|
|
NM_004006.3(DMD):c.6167A>C (p.His2056Pro)
|
|
|
NM_004006.3(DMD):c.6179C>T (p.Thr2060Ile)
|
rs794729000
|
|
NM_004006.3(DMD):c.6181G>A (p.Ala2061Thr)
|
|
|
NM_004006.3(DMD):c.618A>C (p.Gln206His)
|
|
|
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser)
|
rs1468473458
|
|
NM_004006.3(DMD):c.6197C>T (p.Ala2066Val)
|
|
|
NM_004006.3(DMD):c.6202C>A (p.Pro2068Thr)
|
rs759958716
|
|
NM_004006.3(DMD):c.6212G>C (p.Arg2071Thr)
|
rs774825173
|
|
NM_004006.3(DMD):c.6214G>A (p.Val2072Met)
|
|
|
NM_004006.3(DMD):c.6215T>C (p.Val2072Ala)
|
|
|
NM_004006.3(DMD):c.6238C>G (p.Gln2080Glu)
|
rs1340785309
|
|
NM_004006.3(DMD):c.6240G>T (p.Gln2080His)
|
rs1557263852
|
|
NM_004006.3(DMD):c.6259A>G (p.Lys2087Glu)
|
rs2148456625
|
|
NM_004006.3(DMD):c.625A>G (p.Ile209Val)
|
|
|
NM_004006.3(DMD):c.6280G>A (p.Asp2094Asn)
|
|
|
NM_004006.3(DMD):c.6290+3A>G
|
|
|
NM_004006.3(DMD):c.6295T>G (p.Phe2099Val)
|
|
|
NM_004006.3(DMD):c.6296T>C (p.Phe2099Ser)
|
rs1229763776
|
|
NM_004006.3(DMD):c.6305C>G (p.Ser2102Cys)
|
rs2097114904
|
|
NM_004006.3(DMD):c.6307G>A (p.Val2103Ile)
|
|
|
NM_004006.3(DMD):c.6329A>G (p.His2110Arg)
|
rs2097114804
|
|
NM_004006.3(DMD):c.6337A>G (p.Ile2113Val)
|
|
|
NM_004006.3(DMD):c.6367G>C (p.Ala2123Pro)
|
rs2147865559
|
|
NM_004006.3(DMD):c.6368C>T (p.Ala2123Val)
|
|
|
NM_004006.3(DMD):c.6380T>G (p.Leu2127Arg)
|
|
|
NM_004006.3(DMD):c.6389C>T (p.Thr2130Ile)
|
|
|
NM_004006.3(DMD):c.6398C>A (p.Pro2133His)
|
rs2097114550
|
|
NM_004006.3(DMD):c.6400G>A (p.Glu2134Lys)
|
|
|
NM_004006.3(DMD):c.6427T>C (p.Trp2143Arg)
|
|
|
NM_004006.3(DMD):c.6433C>A (p.Leu2145Ile)
|
|
|
NM_004006.3(DMD):c.6438+88106A>G
|
|
|
NM_004006.3(DMD):c.6439-12G>A
|
|
|
NM_004006.3(DMD):c.6439G>A (p.Glu2147Lys)
|
|
|
NM_004006.3(DMD):c.6442C>T (p.Leu2148Phe)
|
|
|
NM_004006.3(DMD):c.6454A>T (p.Ile2152Phe)
|
|
|
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup)
|
rs1395996899
|
|
NM_004006.3(DMD):c.6472G>A (p.Val2158Ile)
|
rs2150187984
|
|
NM_004006.3(DMD):c.6481_6482inv (p.Thr2161Val)
|
|
|
NM_004006.3(DMD):c.6482C>T (p.Thr2161Ile)
|
|
|
NM_004006.3(DMD):c.6488A>G (p.Asn2163Ser)
|
|
|
NM_004006.3(DMD):c.6489T>A (p.Asn2163Lys)
|
rs1057523928
|
|
NM_004006.3(DMD):c.649+4G>A
|
rs2077187609
|
|
NM_004006.3(DMD):c.6496G>A (p.Gly2166Arg)
|
rs2095370321
|
|
NM_004006.3(DMD):c.649G>T (p.Asp217Tyr)
|
|
|
NM_004006.3(DMD):c.650-39498A>G
|
rs1556980528
|
|
NM_004006.3(DMD):c.6505A>G (p.Ile2169Val)
|
rs2095370242
|
|
NM_004006.3(DMD):c.6521C>T (p.Ser2174Leu)
|
rs2095370109
|
|
NM_004006.3(DMD):c.6557G>A (p.Gly2186Glu)
|
rs2095369768
|
|
NM_004006.3(DMD):c.656A>T (p.Asp219Val)
|
rs2147607407
|
|
NM_004006.3(DMD):c.6574T>G (p.Trp2192Gly)
|
|
|
NM_004006.3(DMD):c.6586T>C (p.Cys2196Arg)
|
rs794727677
|
|
NM_004006.3(DMD):c.6610A>G (p.Lys2204Glu)
|
|
|
NM_004006.3(DMD):c.6620A>G (p.Glu2207Gly)
|
|
|
NM_004006.3(DMD):c.6620A>T (p.Glu2207Val)
|
|
|
NM_004006.3(DMD):c.6627A>T (p.Gln2209His)
|
|
|
NM_004006.3(DMD):c.6634A>G (p.Ile2212Val)
|
|
|
NM_004006.3(DMD):c.6637T>G (p.Leu2213Val)
|
|
|
NM_004006.3(DMD):c.6664G>A (p.Glu2222Lys)
|
rs2094863563
|
|
NM_004006.3(DMD):c.6665A>T (p.Glu2222Val)
|
|
|
NM_004006.3(DMD):c.6692A>G (p.Asp2231Gly)
|
|
|
NM_004006.3(DMD):c.6695A>G (p.Asn2232Ser)
|
|
|
NM_004006.3(DMD):c.6696C>G (p.Asn2232Lys)
|
rs886043675
|
|
NM_004006.3(DMD):c.6701C>A (p.Ala2234Asp)
|
|
|
NM_004006.3(DMD):c.6712C>G (p.Leu2238Val)
|
rs2094862668
|
|
NM_004006.3(DMD):c.6736C>G (p.Leu2246Val)
|
|
|
NM_004006.3(DMD):c.6739A>G (p.Lys2247Glu)
|
|
|
NM_004006.3(DMD):c.673A>G (p.Lys225Glu)
|
rs2063901822
|
|
NM_004006.3(DMD):c.6762+3A>T
|
rs1085307811
|
|
NM_004006.3(DMD):c.6762G>A (p.Lys2254=)
|
rs1569516110
|
|
NM_004006.3(DMD):c.6763-14T>G
|
|
|
NM_004006.3(DMD):c.6763-3C>A
|
|
|
NM_004006.3(DMD):c.6772G>C (p.Glu2258Gln)
|
|
|
NM_004006.3(DMD):c.6779T>G (p.Leu2260Trp)
|
rs2149990187
|
|
NM_004006.3(DMD):c.6781C>T (p.Pro2261Ser)
|
|
|
NM_004006.3(DMD):c.6785T>C (p.Leu2262Pro)
|
|
|
NM_004006.3(DMD):c.6794G>T (p.Gly2265Val)
|
|
|
NM_004006.3(DMD):c.6806A>G (p.Gln2269Arg)
|
rs2094829116
|
|
NM_004006.3(DMD):c.680C>T (p.Ser227Phe)
|
rs746536387
|
|
NM_004006.3(DMD):c.6814G>A (p.Glu2272Lys)
|
rs1557010214
|
|
NM_004006.3(DMD):c.6820G>A (p.Gly2274Arg)
|
|
|
NM_004006.3(DMD):c.6826C>T (p.Pro2276Ser)
|
|
|
NM_004006.3(DMD):c.682A>C (p.Ile228Leu)
|
|
|
NM_004006.3(DMD):c.6830T>G (p.Val2277Gly)
|
rs1051247530
|
|
NM_004006.3(DMD):c.6836T>G (p.Val2279Gly)
|
rs2149989725
|
|
NM_004006.3(DMD):c.6838A>T (p.Ser2280Cys)
|
rs767538299
|
|
NM_004006.3(DMD):c.6839G>A (p.Ser2280Asn)
|
rs1060502614
|
|
NM_004006.3(DMD):c.6859G>C (p.Glu2287Gln)
|
|
|
NM_004006.3(DMD):c.6865G>A (p.Asp2289Asn)
|
|
|
NM_004006.3(DMD):c.6883C>G (p.Leu2295Val)
|
rs762298935
|
|
NM_004006.3(DMD):c.6886A>G (p.Lys2296Glu)
|
rs1828030875
|
|
NM_004006.3(DMD):c.6898C>G (p.Leu2300Val)
|
rs2149989112
|
|
NM_004006.3(DMD):c.689T>A (p.Met230Lys)
|
|
|
NM_004006.3(DMD):c.689T>C (p.Met230Thr)
|
rs2147606547
|
|
NM_004006.3(DMD):c.6906G>C (p.Trp2302Cys)
|
|
|
NM_004006.3(DMD):c.6911A>C (p.Lys2304Thr)
|
|
|
NM_004006.3(DMD):c.6912+4A>C
|
|
|
NM_004006.3(DMD):c.6928C>A (p.Pro2310Thr)
|
|
|
NM_004006.3(DMD):c.6928C>T (p.Pro2310Ser)
|
|
|
NM_004006.3(DMD):c.6947T>C (p.Ile2316Thr)
|
|
|
NM_004006.3(DMD):c.694A>T (p.Ile232Phe)
|
|
|
NM_004006.3(DMD):c.6952G>A (p.Ala2318Thr)
|
|
|
NM_004006.3(DMD):c.6959T>C (p.Ile2320Thr)
|
|
|
NM_004006.3(DMD):c.6970G>A (p.Gly2324Arg)
|
|
|
NM_004006.3(DMD):c.6971G>A (p.Gly2324Glu)
|
|
|
NM_004006.3(DMD):c.6974A>G (p.Gln2325Arg)
|
|
|
NM_004006.3(DMD):c.6982A>G (p.Lys2328Glu)
|
|
|
NM_004006.3(DMD):c.6986A>G (p.Lys2329Arg)
|
|
|
NM_004006.3(DMD):c.6994G>C (p.Asp2332His)
|
|
|
NM_004006.3(DMD):c.7001A>T (p.Glu2334Val)
|
|
|
NM_004006.3(DMD):c.7006C>A (p.Gln2336Lys)
|
rs2149680307
|
|
NM_004006.3(DMD):c.7012A>T (p.Asn2338Tyr)
|
rs2149680239
|
|
NM_004006.3(DMD):c.7015C>A (p.His2339Asn)
|
rs2093951396
|
|
NM_004006.3(DMD):c.7019T>C (p.Leu2340Pro)
|
rs1569492076
|
|
NM_004006.3(DMD):c.7031T>C (p.Leu2344Ser)
|
|
|
NM_004006.3(DMD):c.7034C>T (p.Ser2345Phe)
|
rs2149680055
|
|
NM_004006.3(DMD):c.703C>G (p.Leu235Val)
|
rs200177107
|
|
NM_004006.3(DMD):c.703C>T (p.Leu235Phe)
|
|
|
NM_004006.3(DMD):c.704T>A (p.Leu235His)
|
|
|
NM_004006.3(DMD):c.7050G>T (p.Gln2350His)
|
|
|
NM_004006.3(DMD):c.7058T>G (p.Ile2353Ser)
|
|
|
NM_004006.3(DMD):c.7064A>G (p.Asn2355Ser)
|
rs1366729351
|
|
NM_004006.3(DMD):c.7070C>A (p.Pro2357Gln)
|
rs1448590525
|
|
NM_004006.3(DMD):c.7076A>G (p.Gln2359Arg)
|
|
|
NM_004006.3(DMD):c.7081G>A (p.Gly2361Arg)
|
|
|
NM_004006.3(DMD):c.7084C>T (p.Pro2362Ser)
|
rs2093949947
|
|
NM_004006.3(DMD):c.7090G>A (p.Asp2364Asn)
|
|
|
NM_004006.3(DMD):c.7098+3A>T
|
rs1556962217
|
|
NM_004006.3(DMD):c.7099-3C>T
|
|
|
NM_004006.3(DMD):c.70T>C (p.Trp24Arg)
|
|
|
NM_004006.3(DMD):c.7105G>A (p.Glu2369Lys)
|
|
|
NM_004006.3(DMD):c.711A>G (p.Gln237=)
|
rs778632674
|
|
NM_004006.3(DMD):c.7142A>G (p.Glu2381Gly)
|
|
|
NM_004006.3(DMD):c.7172A>G (p.Lys2391Arg)
|
rs1556930538
|
|
NM_004006.3(DMD):c.7173G>C (p.Lys2391Asn)
|
|
|
NM_004006.3(DMD):c.7175A>T (p.Glu2392Val)
|
|
|
NM_004006.3(DMD):c.717G>T (p.Leu239Phe)
|
|
|
NM_004006.3(DMD):c.718C>A (p.Pro240Thr)
|
rs2063897942
|
|
NM_004006.3(DMD):c.7200G>A (p.Lys2400=)
|
|
|
NM_004006.3(DMD):c.7216C>G (p.Leu2406Val)
|
|
|
NM_004006.3(DMD):c.7237G>A (p.Val2413Ile)
|
rs373604575
|
|
NM_004006.3(DMD):c.7249C>T (p.Leu2417Phe)
|
|
|
NM_004006.3(DMD):c.7277A>G (p.Asp2426Gly)
|
|
|
NM_004006.3(DMD):c.727G>T (p.Val243Leu)
|
|
|
NM_004006.3(DMD):c.7283C>T (p.Ala2428Val)
|
|
|
NM_004006.3(DMD):c.7288G>C (p.Gly2430Arg)
|
rs200078222
|
|
NM_004006.3(DMD):c.72G>T (p.Trp24Cys)
|
|
|
NM_004006.3(DMD):c.7300A>G (p.Ile2434Val)
|
rs895117941
|
|
NM_004006.3(DMD):c.7307C>G (p.Ala2436Gly)
|
|
|
NM_004006.3(DMD):c.7309+2dup
|
|
|
NM_004006.3(DMD):c.7309+5G>A
|
|
|
NM_004006.3(DMD):c.7310-11A>G
|
|
|
NM_004006.3(DMD):c.7310-16A>G
|
|
|
NM_004006.3(DMD):c.7310-17A>G
|
rs2149245738
|
|
NM_004006.3(DMD):c.7310-19A>G
|
|
|
NM_004006.3(DMD):c.731G>A (p.Ser244Asn)
|
rs751368412
|
|
NM_004006.3(DMD):c.7327A>C (p.Thr2443Pro)
|
rs776243218
|
|
NM_004006.3(DMD):c.7337C>T (p.Thr2446Ile)
|
|
|
NM_004006.3(DMD):c.7342C>T (p.Pro2448Ser)
|
|
|
NM_004006.3(DMD):c.734T>C (p.Ile245Thr)
|
|
|
NM_004006.3(DMD):c.7351A>G (p.Thr2451Ala)
|
|
|
NM_004006.3(DMD):c.7363G>C (p.Ala2455Pro)
|
rs1603464017
|
|
NM_004006.3(DMD):c.7364C>T (p.Ala2455Val)
|
|
|
NM_004006.3(DMD):c.7366A>G (p.Ile2456Val)
|
rs1467855560
|
|
NM_004006.3(DMD):c.7385C>A (p.Pro2462Gln)
|
|
|
NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile)
|
|
|
NM_004006.3(DMD):c.7400T>C (p.Leu2467Ser)
|
|
|
NM_004006.3(DMD):c.7402G>C (p.Glu2468Gln)
|
rs128626253
|
|
NM_004006.3(DMD):c.7418C>T (p.Ala2473Val)
|
|
|
NM_004006.3(DMD):c.7421A>G (p.Asp2474Gly)
|
rs2149245152
|
|
NM_004006.3(DMD):c.7452C>A (p.Asp2484Glu)
|
|
|
NM_004006.3(DMD):c.7491G>C (p.Arg2497Ser)
|
|
|
NM_004006.3(DMD):c.7493T>A (p.Val2498Glu)
|
|
|
NM_004006.3(DMD):c.7498G>A (p.Val2500Met)
|
|
|
NM_004006.3(DMD):c.7502G>A (p.Gly2501Asp)
|
|
|
NM_004006.3(DMD):c.7507C>T (p.Leu2503Phe)
|
|
|
NM_004006.3(DMD):c.7510G>C (p.Glu2504Gln)
|
|
|
NM_004006.3(DMD):c.7514A>T (p.Asp2505Val)
|
rs2090505173
|
|
NM_004006.3(DMD):c.7517T>A (p.Ile2506Asn)
|
rs2149244553
|
|
NM_004006.3(DMD):c.7521C>G (p.Asn2507Lys)
|
rs112516305
|
|
NM_004006.3(DMD):c.7536G>T (p.Lys2512Asn)
|
|
|
NM_004006.3(DMD):c.7538A>C (p.Gln2513Pro)
|
rs1569386546
|
|
NM_004006.3(DMD):c.7542+5G>A
|
rs1468868482
|
|
NM_004006.3(DMD):c.7544C>A (p.Ala2515Glu)
|
rs373728963
|
|
NM_004006.3(DMD):c.7544C>T (p.Ala2515Val)
|
|
|
NM_004006.3(DMD):c.7547C>T (p.Thr2516Ile)
|
|
|
NM_004006.3(DMD):c.756A>C (p.Glu252Asp)
|
|
|
NM_004006.3(DMD):c.7574C>T (p.Pro2525Leu)
|
rs2149018455
|
|
NM_004006.3(DMD):c.7598C>T (p.Ala2533Val)
|
|
|
NM_004006.3(DMD):c.7600G>A (p.Ala2534Thr)
|
|
|
NM_004006.3(DMD):c.7618A>G (p.Lys2540Glu)
|
|
|
NM_004006.3(DMD):c.7636G>A (p.Ala2546Thr)
|
rs1368936548
|
|
NM_004006.3(DMD):c.7636G>T (p.Ala2546Ser)
|
|
|
NM_004006.3(DMD):c.7642A>G (p.Thr2548Ala)
|
|
|
NM_004006.3(DMD):c.7645A>G (p.Ile2549Val)
|
rs1006232878
|
|
NM_004006.3(DMD):c.764C>G (p.Pro255Arg)
|
rs2147604642
|
|
NM_004006.3(DMD):c.7660+2262_7660+2263inv
|
|
|
NM_004006.3(DMD):c.7669A>G (p.Ile2557Val)
|
rs1569221011
|
|
NM_004006.3(DMD):c.7675A>G (p.Asn2559Asp)
|
|
|
NM_004006.3(DMD):c.767G>A (p.Arg256Lys)
|
|
|
NM_004006.3(DMD):c.7684G>C (p.Asp2562His)
|
|
|
NM_004006.3(DMD):c.7697A>G (p.Glu2566Gly)
|
|
|
NM_004006.3(DMD):c.76A>C (p.Asn26His)
|
rs1057521321
|
|
NM_004006.3(DMD):c.7705C>A (p.Gln2569Lys)
|
rs1603445344
|
|
NM_004006.3(DMD):c.7707G>C (p.Gln2569His)
|
|
|
NM_004006.3(DMD):c.7733T>C (p.Met2578Thr)
|
|
|
NM_004006.3(DMD):c.7734G>A (p.Met2578Ile)
|
|
|
NM_004006.3(DMD):c.7748C>G (p.Thr2583Arg)
|
|
|
NM_004006.3(DMD):c.7748C>T (p.Thr2583Ile)
|
|
|
NM_004006.3(DMD):c.7753T>C (p.Trp2585Arg)
|
rs765595016
|
|
NM_004006.3(DMD):c.7765A>G (p.Lys2589Glu)
|
|
|
NM_004006.3(DMD):c.7784T>A (p.Val2595Asp)
|
rs2082257158
|
|
NM_004006.3(DMD):c.778G>C (p.Val260Leu)
|
|
|
NM_004006.3(DMD):c.7795G>C (p.Ala2599Pro)
|
rs1569220550
|
|
NM_004006.3(DMD):c.7799G>A (p.Arg2600Lys)
|
rs747127624
|
|
NM_004006.3(DMD):c.779T>A (p.Val260Glu)
|
rs2147604235
|
|
NM_004006.3(DMD):c.7801G>A (p.Ala2601Thr)
|
|
|
NM_004006.3(DMD):c.7802C>T (p.Ala2601Val)
|
rs892657975
|
|
NM_004006.3(DMD):c.7808T>A (p.Leu2603His)
|
|
|
NM_004006.3(DMD):c.7808T>C (p.Leu2603Pro)
|
|
|
NM_004006.3(DMD):c.7826G>A (p.Gly2609Asp)
|
rs1060502649
|
|
NM_004006.3(DMD):c.7843G>A (p.Ala2615Thr)
|
|
|
NM_004006.3(DMD):c.7847T>C (p.Ile2616Thr)
|
rs2148732500
|
|
NM_004006.3(DMD):c.7855A>G (p.Lys2619Glu)
|
|
|
NM_004006.3(DMD):c.7872+3T>A
|
rs755923778
|
|
NM_004006.3(DMD):c.7873-528_7873-3del
|
rs1603441754
|
|
NM_004006.3(DMD):c.7873-7T>G
|
rs886044016
|
|
NM_004006.3(DMD):c.7880C>T (p.Ala2627Val)
|
|
|
NM_004006.3(DMD):c.78T>G (p.Asn26Lys)
|
rs794727272
|
|
NM_004006.3(DMD):c.7907A>T (p.Asn2636Ile)
|
|
|
NM_004006.3(DMD):c.7909G>A (p.Val2637Ile)
|
|
|
NM_004006.3(DMD):c.7915G>A (p.Val2639Met)
|
rs2148615898
|
|
NM_004006.3(DMD):c.7921A>G (p.Asn2641Asp)
|
rs2080895011
|
|
NM_004006.3(DMD):c.7922A>G (p.Asn2641Ser)
|
|
|
NM_004006.3(DMD):c.7928T>G (p.Leu2643Trp)
|
|
|
NM_004006.3(DMD):c.7931C>T (p.Ala2644Val)
|
|
|
NM_004006.3(DMD):c.793C>A (p.His265Asn)
|
rs1603150210
|
|
NM_004006.3(DMD):c.793C>T (p.His265Tyr)
|
rs1603150210
|
|
NM_004006.3(DMD):c.7946G>A (p.Arg2649Gln)
|
|
|
NM_004006.3(DMD):c.794A>G (p.His265Arg)
|
|
|
NM_004006.3(DMD):c.7954T>A (p.Ser2652Thr)
|
|
|
NM_004006.3(DMD):c.7964A>G (p.Asp2655Gly)
|
|
|
NM_004006.3(DMD):c.7966A>G (p.Thr2656Ala)
|
|
|
NM_004006.3(DMD):c.7967C>G (p.Thr2656Ser)
|
|
|
NM_004006.3(DMD):c.7967C>T (p.Thr2656Ile)
|
|
|
NM_004006.3(DMD):c.7969A>G (p.Arg2657Gly)
|
rs778467350
|
|
NM_004006.3(DMD):c.7973A>G (p.Lys2658Arg)
|
|
|
NM_004006.3(DMD):c.79G>C (p.Ala27Pro)
|
rs886043234
|
|
NM_004006.3(DMD):c.8000A>T (p.Asn2667Ile)
|
|
|
NM_004006.3(DMD):c.8018T>G (p.Ile2673Ser)
|
rs2080888300
|
|
NM_004006.3(DMD):c.8027+3A>G
|
|
|
NM_004006.3(DMD):c.8027+4T>C
|
|
|
NM_004006.3(DMD):c.8027+6A>G
|
|
|
NM_004006.3(DMD):c.8028-12G>A
|
|
|
NM_004006.3(DMD):c.8028-3C>T
|
rs1603430208
|
|
NM_004006.3(DMD):c.8033G>C (p.Ser2678Thr)
|
rs942124280
|
|
NM_004006.3(DMD):c.8038C>G (p.Arg2680Gly)
|
|
|
NM_004006.3(DMD):c.8039G>T (p.Arg2680Leu)
|
rs778303577
|
|
NM_004006.3(DMD):c.803T>C (p.Leu268Ser)
|
rs939491009
|
|
NM_004006.3(DMD):c.8044G>A (p.Ala2682Thr)
|
rs2148423482
|
|
NM_004006.3(DMD):c.8056G>C (p.Glu2686Gln)
|
|
|
NM_004006.3(DMD):c.8062C>G (p.His2688Asp)
|
rs2148423329
|
|
NM_004006.3(DMD):c.806A>G (p.His269Arg)
|
|
|
NM_004006.3(DMD):c.807_808delinsAT (p.His269_His270delinsGlnTyr)
|
|
|
NM_004006.3(DMD):c.8080T>C (p.Phe2694Leu)
|
rs2148423031
|
|
NM_004006.3(DMD):c.8080T>G (p.Phe2694Val)
|
|
|
NM_004006.3(DMD):c.8082C>G (p.Phe2694Leu)
|
|
|
NM_004006.3(DMD):c.80C>A (p.Ala27Glu)
|
rs763407275
|
|
NM_004006.3(DMD):c.8108C>T (p.Ala2703Val)
|
|
|
NM_004006.3(DMD):c.8120_8122del (p.Glu2707del)
|
|
|
NM_004006.3(DMD):c.8123C>G (p.Ala2708Gly)
|
|
|
NM_004006.3(DMD):c.8140G>T (p.Val2714Phe)
|
|
|
NM_004006.3(DMD):c.8150A>G (p.Asp2717Gly)
|
rs886043271
|
|
NM_004006.3(DMD):c.8150A>T (p.Asp2717Val)
|
rs886043271
|
|
NM_004006.3(DMD):c.8153C>T (p.Ala2718Val)
|
|
|
NM_004006.3(DMD):c.8159G>C (p.Arg2720Pro)
|
rs760495223
|
|
NM_004006.3(DMD):c.8161A>C (p.Lys2721Gln)
|
|
|
NM_004006.3(DMD):c.8186A>G (p.Lys2729Arg)
|
|
|
NM_004006.3(DMD):c.818A>G (p.His273Arg)
|
|
|
NM_004006.3(DMD):c.818A>T (p.His273Leu)
|
rs771696085
|
|
NM_004006.3(DMD):c.819C>G (p.His273Gln)
|
|
|
NM_004006.3(DMD):c.8217+3A>C
|
rs886042918
|
|
NM_004006.3(DMD):c.8217+3_8217+6del
|
|
|
NM_004006.3(DMD):c.8217+5G>T
|
rs2148421605
|
|
NM_004006.3(DMD):c.8217A>C (p.Gln2739His)
|
|
|
NM_004006.3(DMD):c.8219A>T (p.Asp2740Val)
|
|
|
NM_004006.3(DMD):c.8227G>T (p.Gly2743Cys)
|
|
|
NM_004006.3(DMD):c.8242C>G (p.His2748Asp)
|
|
|
NM_004006.3(DMD):c.824C>A (p.Ser275Tyr)
|
|
|
NM_004006.3(DMD):c.8254T>C (p.Tyr2752His)
|
rs2071060406
|
|
NM_004006.3(DMD):c.8268T>G (p.Asp2756Glu)
|
rs2147177290
|
|
NM_004006.3(DMD):c.8279A>G (p.Gln2760Arg)
|
|
|
NM_004006.3(DMD):c.8280A>T (p.Gln2760His)
|
|
|
NM_004006.3(DMD):c.8294C>T (p.Ser2765Phe)
|
|
|
NM_004006.3(DMD):c.8302G>A (p.Gly2768Ser)
|
|
|
NM_004006.3(DMD):c.831+13_831+15delinsTTC
|
|
|
NM_004006.3(DMD):c.8311G>T (p.Asp2771Tyr)
|
|
|
NM_004006.3(DMD):c.8315C>A (p.Ala2772Glu)
|
rs758105917
|
|
NM_004006.3(DMD):c.832-13C>G
|
rs1333642183
|
|
NM_004006.3(DMD):c.832-3C>A
|
rs777492476
|
|
NM_004006.3(DMD):c.8324T>C (p.Leu2775Ser)
|
rs1363319230
|
|
NM_004006.3(DMD):c.832A>G (p.Ile278Val)
|
|
|
NM_004006.3(DMD):c.8332C>T (p.Arg2778Cys)
|
rs368974772
|
|
NM_004006.3(DMD):c.8333G>A (p.Arg2778His)
|
rs2071050854
|
|
NM_004006.3(DMD):c.8333G>T (p.Arg2778Leu)
|
|
|
NM_004006.3(DMD):c.8336T>C (p.Leu2779Ser)
|
|
|
NM_004006.3(DMD):c.833T>A (p.Ile278Asn)
|
|
|
NM_004006.3(DMD):c.8353A>G (p.Lys2785Glu)
|
rs2071048687
|
|
NM_004006.3(DMD):c.8366T>C (p.Leu2789Pro)
|
|
|
NM_004006.3(DMD):c.8369G>A (p.Arg2790Gln)
|
rs2147175359
|
|
NM_004006.3(DMD):c.8371A>G (p.Lys2791Glu)
|
|
|
NM_004006.3(DMD):c.8378C>G (p.Ser2793Cys)
|
|
|
NM_004006.3(DMD):c.8386A>G (p.Ile2796Val)
|
|
|
NM_004006.3(DMD):c.8391-10T>A
|
|
|
NM_004006.3(DMD):c.8391-3C>G
|
rs2069924068
|
|
NM_004006.3(DMD):c.83A>C (p.Gln28Pro)
|
|
|
NM_004006.3(DMD):c.8411C>A (p.Ser2804Tyr)
|
rs2147076528
|
|
NM_004006.3(DMD):c.8434C>T (p.Leu2812Phe)
|
|
|
NM_004006.3(DMD):c.8447A>T (p.Glu2816Val)
|
|
|
NM_004006.3(DMD):c.844C>A (p.Leu282Ile)
|
rs1188593868
|
|
NM_004006.3(DMD):c.8471A>G (p.Lys2824Arg)
|
|
|
NM_004006.3(DMD):c.8477A>G (p.Asp2826Gly)
|
|
|
NM_004006.3(DMD):c.847G>C (p.Ala283Pro)
|
rs2063779396
|
|
NM_004006.3(DMD):c.847G>T (p.Ala283Ser)
|
|
|
NM_004006.3(DMD):c.8489G>A (p.Arg2830Gln)
|
|
|
NM_004006.3(DMD):c.8498C>T (p.Pro2833Leu)
|
|
|
NM_004006.3(DMD):c.8500A>G (p.Ile2834Val)
|
|
|
NM_004006.3(DMD):c.8513T>G (p.Phe2838Cys)
|
|
|
NM_004006.3(DMD):c.8518G>A (p.Ala2840Thr)
|
rs2147074872
|
|
NM_004006.3(DMD):c.851A>G (p.Gln284Arg)
|
|
|
NM_004006.3(DMD):c.8525A>G (p.Gln2842Arg)
|
|
|
NM_004006.3(DMD):c.8536G>A (p.Asp2846Asn)
|
|
|
NM_004006.3(DMD):c.8536G>T (p.Asp2846Tyr)
|
|
|
NM_004006.3(DMD):c.8545A>G (p.Arg2849Gly)
|
|
|
NM_004006.3(DMD):c.8546G>C (p.Arg2849Thr)
|
|
|
NM_004006.3(DMD):c.8548-3C>T
|
|
|
NM_004006.3(DMD):c.8549C>A (p.Ala2850Asp)
|
rs2068042264
|
|
NM_004006.3(DMD):c.8553C>A (p.Phe2851Leu)
|
|
|
NM_004006.3(DMD):c.8556G>T (p.Lys2852Asn)
|
|
|
NM_004006.3(DMD):c.8560_8561delinsAC (p.Glu2854Thr)
|
rs2149257504
|
|
NM_004006.3(DMD):c.8561A>C (p.Glu2854Ala)
|
|
|
NM_004006.3(DMD):c.8575G>A (p.Glu2859Lys)
|
|
|
NM_004006.3(DMD):c.8591G>A (p.Ser2864Asn)
|
rs2149257355
|
|
NM_004006.3(DMD):c.8593A>G (p.Thr2865Ala)
|
|
|
NM_004006.3(DMD):c.8596C>G (p.Leu2866Val)
|
rs1603225951
|
|
NM_004006.3(DMD):c.859G>C (p.Glu287Gln)
|
|
|
NM_004006.3(DMD):c.8605G>A (p.Val2869Ile)
|
|
|
NM_004006.3(DMD):c.8609G>C (p.Arg2870Pro)
|
|
|
NM_004006.3(DMD):c.860A>G (p.Glu287Gly)
|
rs1485322486
|
|
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
|
|
|
NM_004006.3(DMD):c.8630C>T (p.Pro2877Leu)
|
|
|
NM_004006.3(DMD):c.8632T>A (p.Leu2878Met)
|
|
|
NM_004006.3(DMD):c.8632T>G (p.Leu2878Val)
|
|
|
NM_004006.3(DMD):c.8639G>A (p.Gly2880Glu)
|
|
|
NM_004006.3(DMD):c.8639G>T (p.Gly2880Val)
|
|
|
NM_004006.3(DMD):c.863G>T (p.Arg288Ile)
|
|
|
NM_004006.3(DMD):c.8644G>C (p.Glu2882Gln)
|
|
|
NM_004006.3(DMD):c.864A>T (p.Arg288Ser)
|
|
|
NM_004006.3(DMD):c.8659G>A (p.Glu2887Lys)
|
|
|
NM_004006.3(DMD):c.8663C>G (p.Pro2888Arg)
|
|
|
NM_004006.3(DMD):c.8668+138G>A
|
rs1603225135
|
|
NM_004006.3(DMD):c.8668G>A (p.Glu2890Lys)
|
rs398124076
|
|
NM_004006.3(DMD):c.8669-16C>G
|
|
|
NM_004006.3(DMD):c.8674C>T (p.Pro2892Ser)
|
|
|
NM_004006.3(DMD):c.8678C>T (p.Pro2893Leu)
|
rs2067979900
|
|
NM_004006.3(DMD):c.8692C>G (p.Gln2898Glu)
|
|
|
NM_004006.3(DMD):c.8694G>C (p.Gln2898His)
|
|
|
NM_004006.3(DMD):c.8697T>A (p.Asn2899Lys)
|
|
|
NM_004006.3(DMD):c.8702C>A (p.Thr2901Asn)
|
rs2067975834
|
|
NM_004006.3(DMD):c.8702C>T (p.Thr2901Ile)
|
|
|
NM_004006.3(DMD):c.8707C>T (p.Leu2903Phe)
|
rs1040153805
|
|
NM_004006.3(DMD):c.8723C>T (p.Ala2908Val)
|
rs2067972248
|
|
NM_004006.3(DMD):c.8728G>A (p.Glu2910Lys)
|
|
|
NM_004006.3(DMD):c.872C>T (p.Ser291Phe)
|
rs2147582337
|
|
NM_004006.3(DMD):c.8731G>A (p.Val2911Ile)
|
rs2067969794
|
|
NM_004006.3(DMD):c.8738C>G (p.Thr2913Ser)
|
rs919154221
|
|
NM_004006.3(DMD):c.8740G>C (p.Glu2914Gln)
|
rs1556656366
|
|
NM_004006.3(DMD):c.8741A>G (p.Glu2914Gly)
|
|
|
NM_004006.3(DMD):c.8741A>T (p.Glu2914Val)
|
|
|
NM_004006.3(DMD):c.8749A>G (p.Lys2917Glu)
|
|
|
NM_004006.3(DMD):c.874C>T (p.Pro292Ser)
|
|
|
NM_004006.3(DMD):c.8755A>T (p.Asn2919Tyr)
|
rs1603222841
|
|
NM_004006.3(DMD):c.8765C>G (p.Ser2922Cys)
|
|
|
NM_004006.3(DMD):c.8777A>G (p.Gln2926Arg)
|
|
|
NM_004006.3(DMD):c.8778G>C (p.Gln2926His)
|
|
|
NM_004006.3(DMD):c.8781A>T (p.Arg2927Ser)
|
rs976735204
|
|
NM_004006.3(DMD):c.8789A>G (p.Asp2930Gly)
|
|
|
NM_004006.3(DMD):c.8793G>C (p.Glu2931Asp)
|
|
|
NM_004006.3(DMD):c.8794A>T (p.Thr2932Ser)
|
rs2067958322
|
|
NM_004006.3(DMD):c.8806C>A (p.Leu2936Ile)
|
rs146517753
|
|
NM_004006.3(DMD):c.8806C>G (p.Leu2936Val)
|
|
|
NM_004006.3(DMD):c.8815C>T (p.Leu2939Phe)
|
|
|
NM_004006.3(DMD):c.8819A>C (p.Gln2940Pro)
|
rs1372401429
|
|
NM_004006.3(DMD):c.881C>T (p.Pro294Leu)
|
rs2063777083
|
|
NM_004006.3(DMD):c.8824G>C (p.Ala2942Pro)
|
rs755127162
|
|
NM_004006.3(DMD):c.8843T>C (p.Leu2948Pro)
|
|
|
NM_004006.3(DMD):c.884G>T (p.Arg295Leu)
|
|
|
NM_004006.3(DMD):c.8866A>C (p.Ile2956Leu)
|
rs1032522152
|
|
NM_004006.3(DMD):c.8875T>A (p.Ser2959Thr)
|
|
|
NM_004006.3(DMD):c.8884C>A (p.Pro2962Thr)
|
|
|
NM_004006.3(DMD):c.888C>A (p.Phe296Leu)
|
rs977310228
|
|
NM_004006.3(DMD):c.8896CTC[1] (p.Leu2967del)
|
rs2149252655
|
|
NM_004006.3(DMD):c.8908T>C (p.Ser2970Pro)
|
rs751718742
|
|
NM_004006.3(DMD):c.8909C>G (p.Ser2970Cys)
|
|
|
NM_004006.3(DMD):c.8917G>T (p.Asp2973Tyr)
|
|
|
NM_004006.3(DMD):c.891G>T (p.Lys297Asn)
|
rs1569467457
|
|
NM_004006.3(DMD):c.8922C>A (p.His2974Gln)
|
|
|
NM_004006.3(DMD):c.8929A>G (p.Lys2977Glu)
|
rs1234431569
|
|
NM_004006.3(DMD):c.8932G>A (p.Val2978Ile)
|
rs2149252455
|
|
NM_004006.3(DMD):c.8937G>A (p.Lys2979=)
|
rs2067940140
|
|
NM_004006.3(DMD):c.8938-3C>T
|
|
|
NM_004006.3(DMD):c.8938-5C>G
|
rs2149076146
|
|
NM_004006.3(DMD):c.8941C>A (p.Leu2981Ile)
|
rs2149076096
|
|
NM_004006.3(DMD):c.8942T>C (p.Leu2981Pro)
|
rs1569542830
|
|
NM_004006.3(DMD):c.8960C>A (p.Pro2987His)
|
rs2149075905
|
|
NM_004006.3(DMD):c.8960C>T (p.Pro2987Leu)
|
rs2149075905
|
|
NM_004006.3(DMD):c.8963T>C (p.Leu2988Pro)
|
rs2065154544
|
|
NM_004006.3(DMD):c.8984T>C (p.Val2995Ala)
|
|
|
NM_004006.3(DMD):c.8987A>G (p.Asn2996Ser)
|
|
|
NM_004006.3(DMD):c.8998C>T (p.Arg3000Cys)
|
|
|
NM_004006.3(DMD):c.8999G>T (p.Arg3000Leu)
|
rs772695216
|
|
NM_004006.3(DMD):c.9001C>A (p.Gln3001Lys)
|
|
|
NM_004006.3(DMD):c.9002A>C (p.Gln3001Pro)
|
|
|
NM_004006.3(DMD):c.9008C>A (p.Thr3003Asn)
|
rs769519777
|
|
NM_004006.3(DMD):c.9017G>A (p.Gly3006Asp)
|
rs1426562530
|
|
NM_004006.3(DMD):c.901T>C (p.Tyr301His)
|
rs773135408
|
|
NM_004006.3(DMD):c.9024_9038dup (p.Tyr3012_Asn3013insLysLeuSerProTyr)
|
|
|
NM_004006.3(DMD):c.9025C>A (p.Leu3009Ile)
|
rs2149075446
|
|
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys)
|
rs769658853
|
|
NM_004006.3(DMD):c.905C>T (p.Thr302Ile)
|
|
|
NM_004006.3(DMD):c.9084+6C>A
|
rs1839521112
|
|
NM_004006.3(DMD):c.9085-2A>G
|
rs2058229669
|
|
NM_004006.3(DMD):c.9085-3C>A
|
|
|
NM_004006.3(DMD):c.9091G>T (p.Val3031Phe)
|
|
|
NM_004006.3(DMD):c.9104T>A (p.Val3035Asp)
|
rs1602056237
|
|
NM_004006.3(DMD):c.910G>C (p.Ala304Pro)
|
|
|
NM_004006.3(DMD):c.9111G>C (p.Gln3037His)
|
|
|
NM_004006.3(DMD):c.9113T>A (p.Leu3038Gln)
|
|
|
NM_004006.3(DMD):c.914C>T (p.Ala305Val)
|
rs886044188
|
|
NM_004006.3(DMD):c.9150G>T (p.Gln3050His)
|
rs1352900858
|
|
NM_004006.3(DMD):c.9156T>G (p.Phe3052Leu)
|
|
|
NM_004006.3(DMD):c.9173A>G (p.Gln3058Arg)
|
|
|
NM_004006.3(DMD):c.9186G>T (p.Glu3062Asp)
|
|
|
NM_004006.3(DMD):c.9193A>G (p.Ile3065Val)
|
|
|
NM_004006.3(DMD):c.919G>T (p.Val307Phe)
|
rs2147580981
|
|
NM_004006.3(DMD):c.91A>G (p.Lys31Glu)
|
rs886044521
|
|
NM_004006.3(DMD):c.9204C>G (p.Asn3068Lys)
|
|
|
NM_004006.3(DMD):c.9212C>G (p.Pro3071Arg)
|
rs2148296853
|
|
NM_004006.3(DMD):c.9217T>C (p.Tyr3073His)
|
|
|
NM_004006.3(DMD):c.9224+5G>T
|
rs1556503812
|
|
NM_004006.3(DMD):c.9224+6T>A
|
|
|
NM_004006.3(DMD):c.9225-15del
|
rs2147649939
|
|
NM_004006.3(DMD):c.9225-287C>A
|
rs2050490437
|
|
NM_004006.3(DMD):c.9229G>A (p.Glu3077Lys)
|
|
|
NM_004006.3(DMD):c.925A>T (p.Thr309Ser)
|
rs2063773668
|
|
NM_004006.3(DMD):c.9266C>T (p.Thr3089Ile)
|
rs2147649036
|
|
NM_004006.3(DMD):c.9286+3A>T
|
rs2050453653
|
|
NM_004006.3(DMD):c.9295AAT[1] (p.Asn3100del)
|
|
|
NM_004006.3(DMD):c.9299A>C (p.Asn3100Thr)
|
|
|
NM_004006.3(DMD):c.929C>A (p.Ser310Tyr)
|
rs2063773395
|
|
NM_004006.3(DMD):c.929C>T (p.Ser310Phe)
|
rs2063773395
|
|
NM_004006.3(DMD):c.9305G>T (p.Arg3102Ile)
|
rs2147071625
|
|
NM_004006.3(DMD):c.9315_9326del (p.Tyr3106_Ala3109del)
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rs727503800
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NM_004006.3(DMD):c.932A>T (p.Asp311Val)
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NM_004006.3(DMD):c.9337C>G (p.Arg3113Gly)
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NM_004006.3(DMD):c.934C>G (p.Pro312Ala)
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NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
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rs200928985
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NM_004006.3(DMD):c.9355C>T (p.Leu3119Phe)
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NM_004006.3(DMD):c.9358T>A (p.Cys3120Ser)
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NM_004006.3(DMD):c.9359G>A (p.Cys3120Tyr)
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rs2147070854
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NM_004006.3(DMD):c.935C>G (p.Pro312Arg)
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rs1351450783
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NM_004006.3(DMD):c.9361+6_9361+11del
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rs1395653580
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NM_004006.3(DMD):c.9362-3C>T
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rs752816247
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NM_004006.3(DMD):c.9415A>C (p.Lys3139Gln)
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rs1060502628
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NM_004006.3(DMD):c.941G>T (p.Arg314Leu)
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rs751164104
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NM_004006.3(DMD):c.9427C>G (p.Gln3143Glu)
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rs2148592287
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NM_004006.3(DMD):c.9433A>G (p.Met3145Val)
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rs775080631
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NM_004006.3(DMD):c.9438T>G (p.Asp3146Glu)
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rs1602729216
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NM_004006.3(DMD):c.9439A>G (p.Ile3147Val)
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rs1602729172
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NM_004006.3(DMD):c.9448A>T (p.Ile3150Phe)
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NM_004006.3(DMD):c.944G>A (p.Ser315Asn)
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NM_004006.3(DMD):c.9452T>C (p.Ile3151Thr)
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NM_004006.3(DMD):c.9453T>G (p.Ile3151Met)
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NM_004006.3(DMD):c.9457T>A (p.Cys3153Ser)
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NM_004006.3(DMD):c.9469A>G (p.Ile3157Val)
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NM_004006.3(DMD):c.947C>T (p.Pro316Leu)
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rs1569467334
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NM_004006.3(DMD):c.9491A>T (p.Glu3164Val)
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rs2148591470
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NM_004006.3(DMD):c.9499A>G (p.Asn3167Asp)
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rs781509861
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NM_004006.3(DMD):c.94T>C (p.Phe32Leu)
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NM_004006.3(DMD):c.9509A>G (p.Asn3170Ser)
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NM_004006.3(DMD):c.9510C>A (p.Asn3170Lys)
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NM_004006.3(DMD):c.9515C>A (p.Pro3172His)
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NM_004006.3(DMD):c.952C>T (p.Pro318Ser)
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NM_004006.3(DMD):c.9532T>A (p.Cys3178Ser)
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NM_004006.3(DMD):c.9533G>C (p.Cys3178Ser)
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rs2044432429
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NM_004006.3(DMD):c.9553G>A (p.Val3185Ile)
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rs1556280685
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NM_004006.3(DMD):c.9563+5G>A
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NM_004006.3(DMD):c.9564-3T>A
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NM_004006.3(DMD):c.9564-3T>C
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rs1556257538
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NM_004006.3(DMD):c.9565G>A (p.Gly3189Arg)
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NM_004006.3(DMD):c.9583C>A (p.Arg3195Ser)
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NM_004006.3(DMD):c.9583C>T (p.Arg3195Cys)
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rs2148564609
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NM_004006.3(DMD):c.958C>G (p.Gln320Glu)
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NM_004006.3(DMD):c.95T>C (p.Phe32Ser)
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rs2080986752
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NM_004006.3(DMD):c.960+3C>G
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NM_004006.3(DMD):c.960+5G>A
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NM_004006.3(DMD):c.9602C>G (p.Thr3201Ser)
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NM_004006.3(DMD):c.960G>A (p.Gln320=)
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rs772656026
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NM_004006.3(DMD):c.960G>T (p.Gln320His)
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NM_004006.3(DMD):c.961-3C>T
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NM_004006.3(DMD):c.9617T>G (p.Leu3206Arg)
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rs2148564338
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NM_004006.3(DMD):c.962A>C (p.His321Pro)
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NM_004006.3(DMD):c.9649+5G>C
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rs1602695527
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NM_004006.3(DMD):c.9650A>G (p.Tyr3217Cys)
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rs2148542082
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NM_004006.3(DMD):c.9667G>A (p.Ala3223Thr)
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NM_004006.3(DMD):c.967G>C (p.Glu323Gln)
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NM_004006.3(DMD):c.9680G>A (p.Gly3227Glu)
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NM_004006.3(DMD):c.9694C>G (p.Arg3232Gly)
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NM_004006.3(DMD):c.9700C>G (p.Leu3234Val)
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NM_004006.3(DMD):c.9730A>C (p.Ile3244Leu)
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NM_004006.3(DMD):c.9740A>G (p.Gln3247Arg)
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NM_004006.3(DMD):c.9748G>A (p.Glu3250Lys)
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rs1602668870
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NM_004006.3(DMD):c.9767G>A (p.Gly3256Asp)
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rs2148540693
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NM_004006.3(DMD):c.9769A>G (p.Ser3257Gly)
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rs2148540671
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NM_004006.3(DMD):c.9774C>A (p.Asn3258Lys)
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NM_004006.3(DMD):c.9776T>C (p.Ile3259Thr)
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NM_004006.3(DMD):c.9807+2714C>T
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NM_004006.3(DMD):c.9810TAA[4] (p.Asn3272dup)
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rs2148335593
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NM_004006.3(DMD):c.9812A>G (p.Asn3271Ser)
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rs980324619
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NM_004006.3(DMD):c.9815A>G (p.Asn3272Ser)
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NM_004006.3(DMD):c.9826A>G (p.Ile3276Val)
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rs2148335494
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NM_004006.3(DMD):c.9829G>A (p.Glu3277Lys)
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NM_004006.3(DMD):c.982A>G (p.Lys328Glu)
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NM_004006.3(DMD):c.9833C>T (p.Ala3278Val)
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rs2041311291
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NM_004006.3(DMD):c.985T>C (p.Ser329Pro)
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rs756590471
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NM_004006.3(DMD):c.9865C>T (p.Pro3289Ser)
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rs2041307409
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NM_004006.3(DMD):c.986C>T (p.Ser329Leu)
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rs2059701389
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NM_004006.3(DMD):c.9889G>A (p.Val3297Ile)
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rs2148334596
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NM_004006.3(DMD):c.9896A>G (p.His3299Arg)
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rs398124107
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NM_004006.3(DMD):c.9899G>A (p.Arg3300Lys)
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NM_004006.3(DMD):c.9926A>G (p.His3309Arg)
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rs398124108
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NM_004006.3(DMD):c.9929A>G (p.Gln3310Arg)
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rs886044071
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NM_004006.3(DMD):c.992G>T (p.Gly331Val)
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rs2146835386
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NM_004006.3(DMD):c.9932C>A (p.Ala3311Asp)
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rs2148334111
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NM_004006.3(DMD):c.9935A>C (p.Lys3312Thr)
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rs2041299896
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NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
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NM_004006.3(DMD):c.9938G>A (p.Cys3313Tyr)
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rs886043597
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NM_004006.3(DMD):c.9947G>C (p.Cys3316Ser)
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NM_004006.3(DMD):c.9955T>C (p.Cys3319Arg)
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rs886044217
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NM_004006.3(DMD):c.9956G>T (p.Cys3319Phe)
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rs2041296375
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NM_004006.3(DMD):c.995G>A (p.Ser332Asn)
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NM_004006.3(DMD):c.9965T>C (p.Ile3322Thr)
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NM_004006.3(DMD):c.9974+5T>C
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NM_004006.3(DMD):c.9974+6A>C
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NM_004006.3(DMD):c.9974G>C (p.Arg3325Thr)
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rs398124109
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NM_004006.3(DMD):c.9975G>T (p.Arg3325Ser)
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NM_004006.3(DMD):c.9980G>T (p.Arg3327Met)
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NM_004006.3(DMD):c.9992A>G (p.His3331Arg)
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Single allele
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