NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004006.3(DMD):c.2954T>A (p.Leu985Ter)
|
rs398123916
|
0.00001
|
NM_004006.3(DMD):c.5739+1G>T
|
rs886043041
|
0.00001
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
|
rs398124008
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:31542598-31691102)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31593373-31906309)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31645790-31697703)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31681369-31923633)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31684915-31723599)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31684916-31875673)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31713409-31761739)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31757066-32131812)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31761311-31869309)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31761312-31876380)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31766645-31923633)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31778982-32076838)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31791729-31986631)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31792077-31931430)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31795363-31959887)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31795363-31982230)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31795364-31844706)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31795364-32015996)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31827872-31962949)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31831085-32063055)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31838092-31854936)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31838092-31893490)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31844448-31936656)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31844448-31952468)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31854835-31893490)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31855684-32157553)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31871411-31952468)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31880951-32082537)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31889651-32057692)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31894316-31976319)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31917771-31976319)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31936034-31952468)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31941493-32044401)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31959958-31987608)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31962948-32117422)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31962955-32746089)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x2
|
|
|
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x4
|
|
|
GRCh37/hg19 Xp21.1(chrX:32311728-32565863)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:32353233-32474885)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:32451450-32629283)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:32455259-32791566)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32456356-32490428)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32458016-32593856)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:32563085-32787197)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32563274-32717411)x2
|
|
|
GRCh37/hg19 Xp21.1(chrX:32578319-32620638)x3
|
|
|
GRCh37/hg19 Xp21.1(chrX:32681049-33090616)x2
|
|
|
GRCh37/hg19 Xp21.1(chrX:32765462-32891720)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32795826-32852263)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32827610-32978683)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32835255-32920421)x2
|
|
|
GRCh37/hg19 Xp21.1(chrX:32867689-32935343)x0
|
|
|
GRCh37/hg19 Xp21.2(chrX:31301655-31365681)x1
|
|
|
GRCh37/hg19 Xp21.2(chrX:31458626-31479641)x0
|
|
|
NC_000023.11:g.31147519dup
|
rs1555998436
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.2(DMD):c.3606_3607del
|
rs1569562951
|
|
NM_004006.2:c.6291-19932_6438+109877del
|
|
|
NM_004006.2:c.7661-14207_7700delinsCTGTTGCCTCCGGTTCTG
|
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)
|
rs886042875
|
|
NM_004006.3(DMD):c.10086+1G>A
|
rs398123828
|
|
NM_004006.3(DMD):c.10086+1G>T
|
rs398123828
|
|
NM_004006.3(DMD):c.10086+2T>C
|
rs2148310866
|
|
NM_004006.3(DMD):c.10087-2A>G
|
rs1569420861
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.100A>T (p.Lys34Ter)
|
rs1557084280
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
NM_004006.3(DMD):c.10115_10116del (p.Phe3372fs)
|
|
|
NM_004006.3(DMD):c.10121del (p.Lys3374fs)
|
rs1556037429
|
|
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)
|
rs886043676
|
|
NM_004006.3(DMD):c.1012G>T (p.Glu338Ter)
|
rs398123830
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004006.3(DMD):c.10150del (p.Arg3384fs)
|
rs886039663
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10177_10180del (p.Gly3393fs)
|
rs2148290914
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
NM_004006.3(DMD):c.10224-1dup
|
rs1602409174
|
|
NM_004006.3(DMD):c.10256_10259del (p.Asp3419fs)
|
rs2148279831
|
|
NM_004006.3(DMD):c.10258dup (p.Ser3420fs)
|
rs398123835
|
|
NM_004006.3(DMD):c.10263-2_10264dup
|
rs2148227605
|
|
NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter)
|
rs886042691
|
|
NM_004006.3(DMD):c.10361del (p.Tyr3454fs)
|
rs886043084
|
|
NM_004006.3(DMD):c.103C>T (p.Gln35Ter)
|
rs2149015656
|
|
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)
|
rs895755247
|
|
NM_004006.3(DMD):c.10432dup (p.Ser3478fs)
|
rs2148184571
|
|
NM_004006.3(DMD):c.10447_10448del (p.Ser3483fs)
|
rs398123837
|
|
NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer)
|
rs886043375
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)
|
rs886042495
|
|
NM_004006.3(DMD):c.1047dup (p.Glu350fs)
|
rs1556876421
|
|
NM_004006.3(DMD):c.1048G>T (p.Glu350Ter)
|
rs398123840
|
|
NM_004006.3(DMD):c.10504del (p.Glu3502fs)
|
rs1556024147
|
|
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs)
|
rs878854366
|
|
NM_004006.3(DMD):c.10519G>T (p.Glu3507Ter)
|
rs1556024095
|
|
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)
|
rs1569401103
|
|
NM_004006.3(DMD):c.10554-2A>G
|
rs794727890
|
|
NM_004006.3(DMD):c.10572T>A (p.Tyr3524Ter)
|
rs886043817
|
|
NM_004006.3(DMD):c.10588C>T (p.Gln3530Ter)
|
rs2147935982
|
|
NM_004006.3(DMD):c.10594_10595delinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG (p.Glu3532delinsPheLysCysArgCysLysLysThrLeuLysLysLeuTer)
|
rs886041629
|
|
NM_004006.3(DMD):c.10625del (p.Pro3542fs)
|
rs398123844
|
|
NM_004006.3(DMD):c.1062G>A (p.Trp354Ter)
|
rs1569376447
|
|
NM_004006.3(DMD):c.10650_10651dup (p.Gln3551fs)
|
rs886044325
|
|
NM_004006.3(DMD):c.10651C>T (p.Gln3551Ter)
|
rs1064793742
|
|
NM_004006.3(DMD):c.1070del (p.Ser357fs)
|
rs794726994
|
|
NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter)
|
rs1602145926
|
|
NM_004006.3(DMD):c.10797+5G>A
|
rs398123846
|
|
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)
|
rs794726993
|
|
NM_004006.3(DMD):c.1128dup (p.Asp377fs)
|
rs886044624
|
|
NM_004006.3(DMD):c.1149+2T>C
|
rs2146832176
|
|
NM_004006.3(DMD):c.1150-1G>A
|
rs886043251
|
|
NM_004006.3(DMD):c.1150-2A>G
|
rs794727030
|
|
NM_004006.3(DMD):c.116dup (p.Asn39fs)
|
|
|
NM_004006.3(DMD):c.11G>A (p.Trp4Ter)
|
rs1384868120
|
|
NM_004006.3(DMD):c.1201C>T (p.Gln401Ter)
|
rs2146821257
|
|
NM_004006.3(DMD):c.1249G>T (p.Glu417Ter)
|
rs1057515877
|
|
NM_004006.3(DMD):c.1255G>T (p.Glu419Ter)
|
rs1220963408
|
|
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)
|
rs398123852
|
|
NM_004006.3(DMD):c.1267C>T (p.Gln423Ter)
|
rs2146819649
|
|
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer)
|
rs1602459861
|
|
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)
|
rs398123853
|
|
NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)
|
rs398123853
|
|
NM_004006.3(DMD):c.1288A>T (p.Arg430Ter)
|
rs886041802
|
|
NM_004006.3(DMD):c.1294_1295dup (p.Cys433fs)
|
rs2059642653
|
|
NM_004006.3(DMD):c.1306dup (p.Val436fs)
|
rs398123854
|
|
NM_004006.3(DMD):c.1323dup (p.Gln442fs)
|
rs1602459252
|
|
NM_004006.3(DMD):c.1332-9A>G
|
rs72468700
|
|
NM_004006.3(DMD):c.133C>T (p.Gln45Ter)
|
rs794727499
|
|
NM_004006.3(DMD):c.1341_1342dup (p.Val448fs)
|
rs398123856
|
|
NM_004006.3(DMD):c.1366A>T (p.Lys456Ter)
|
rs1556853298
|
|
NM_004006.3(DMD):c.1371del (p.Glu459fs)
|
rs398123857
|
|
NM_004006.3(DMD):c.137_138dup (p.Gly47fs)
|
rs398123859
|
|
NM_004006.3(DMD):c.1387_1408del (p.Trp463fs)
|
rs886042616
|
|
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)
|
rs886042499
|
|
NM_004006.3(DMD):c.1465C>T (p.Gln489Ter)
|
rs398123861
|
|
NM_004006.3(DMD):c.1482+1G>C
|
rs398123862
|
|
NM_004006.3(DMD):c.1482+1G>T
|
rs398123862
|
|
NM_004006.3(DMD):c.1483-1G>C
|
rs863224982
|
|
NM_004006.3(DMD):c.1483-2A>G
|
rs2149265203
|
|
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)
|
rs128626241
|
|
NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs)
|
rs796065325
|
|
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs)
|
rs398123863
|
|
NM_004006.3(DMD):c.1530dup (p.Thr511fs)
|
rs886043376
|
|
NM_004006.3(DMD):c.1533_1534dup (p.His512fs)
|
rs886044440
|
|
NM_004006.3(DMD):c.1533_1536del (p.His512fs)
|
rs794727097
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
NM_004006.3(DMD):c.1602+1G>A
|
rs1057517960
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
NM_004006.3(DMD):c.1603-2A>C
|
rs773779441
|
|
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)
|
rs398123865
|
|
NM_004006.3(DMD):c.1620G>A (p.Trp540Ter)
|
rs1569230389
|
|
NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)
|
rs1569230293
|
|
NM_004006.3(DMD):c.1652G>A (p.Trp551Ter)
|
rs1569230215
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.1659_1660insGTAA (p.Leu554fs)
|
rs1556810362
|
|
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)
|
rs863224983
|
|
NM_004006.3(DMD):c.1682G>A (p.Trp561Ter)
|
rs2149138245
|
|
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)
|
rs863224984
|
|
NM_004006.3(DMD):c.1693dup (p.Thr565fs)
|
rs1601810456
|
|
NM_004006.3(DMD):c.1704+1G>A
|
rs794727123
|
|
NM_004006.3(DMD):c.1713dup (p.Ser572Ter)
|
rs1601808932
|
|
NM_004006.3(DMD):c.1718del (p.Ala573fs)
|
rs1569229528
|
|
NM_004006.3(DMD):c.1727C>A (p.Ser576Ter)
|
rs2052678684
|
|
NM_004006.3(DMD):c.1734del (p.Glu579fs)
|
rs398123866
|
|
NM_004006.3(DMD):c.175_179dup (p.Lys61fs)
|
rs886043288
|
|
NM_004006.3(DMD):c.1769_1772dup (p.Lys591delinsAsnTer)
|
rs1601808412
|
|
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)
|
rs128626233
|
|
NM_004006.3(DMD):c.1812+2T>A
|
rs1556809625
|
|
NM_004006.3(DMD):c.1843C>T (p.Gln615Ter)
|
rs2149095456
|
|
NM_004006.3(DMD):c.186+2T>A
|
rs886043822
|
|
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)
|
rs886041344
|
|
NM_004006.3(DMD):c.1886C>A (p.Ser629Ter)
|
rs398123867
|
|
NM_004006.3(DMD):c.1900A>T (p.Lys634Ter)
|
rs398123868
|
|
NM_004006.3(DMD):c.1912C>T (p.Gln638Ter)
|
rs794727170
|
|
NM_004006.3(DMD):c.1928G>A (p.Trp643Ter)
|
rs2149094851
|
|
NM_004006.3(DMD):c.1956del (p.Asp652fs)
|
rs886043640
|
|
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)
|
rs1603636537
|
|
NM_004006.3(DMD):c.1973_1992+966del
|
rs1603636515
|
|
NM_004006.3(DMD):c.1977_1981del (p.Lys660fs)
|
rs1556802365
|
|
NM_004006.3(DMD):c.1978_1979del (p.Lys660fs)
|
rs1569213903
|
|
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)
|
rs398123870
|
|
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)
|
rs398123872
|
|
NM_004006.3(DMD):c.2052_2053del (p.Val685fs)
|
rs886043699
|
|
NM_004006.3(DMD):c.208A>T (p.Arg70Ter)
|
rs2080510348
|
|
NM_004006.3(DMD):c.2111del (p.Pro704fs)
|
rs1569169736
|
|
NM_004006.3(DMD):c.2125del (p.Gln709fs)
|
rs398123875
|
|
NM_004006.3(DMD):c.2129del (p.Lys710fs)
|
rs1569169560
|
|
NM_004006.3(DMD):c.2132del (p.Lys711fs)
|
rs1556780579
|
|
NM_004006.3(DMD):c.2168+1G>A
|
rs1057518207
|
|
NM_004006.3(DMD):c.2168+2T>G
|
rs886042618
|
|
NM_004006.3(DMD):c.2195dup (p.His732fs)
|
rs1569565192
|
|
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)
|
rs863224985
|
|
NM_004006.3(DMD):c.2227C>T (p.Gln743Ter)
|
rs2046036327
|
|
NM_004006.3(DMD):c.2257G>T (p.Glu753Ter)
|
rs1557396632
|
|
NM_004006.3(DMD):c.2270C>A (p.Ser757Ter)
|
rs1192427975
|
|
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs)
|
rs398123881
|
|
NM_004006.3(DMD):c.2292+2T>A
|
rs1557396600
|
|
NM_004006.3(DMD):c.2293-2A>G
|
rs2148691779
|
|
NM_004006.3(DMD):c.2294_2297del (p.Ala765fs)
|
rs398123882
|
|
NM_004006.3(DMD):c.2299G>T (p.Glu767Ter)
|
rs2148691615
|
|
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)
|
rs201366610
|
|
NM_004006.3(DMD):c.2316_2317del (p.Lys773fs)
|
rs886042437
|
|
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)
|
rs398123883
|
|
NM_004006.3(DMD):c.2380+1G>C
|
rs398123884
|
|
NM_004006.3(DMD):c.2381-1G>T
|
rs398123887
|
|
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter)
|
rs1557383761
|
|
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)
|
rs398123888
|
|
NM_004006.3(DMD):c.2423_2424insA (p.Asn809fs)
|
rs1557383751
|
|
NM_004006.3(DMD):c.2449C>T (p.Gln817Ter)
|
rs2148632136
|
|
NM_004006.3(DMD):c.2479G>T (p.Glu827Ter)
|
rs794727323
|
|
NM_004006.3(DMD):c.2484T>G (p.Tyr828Ter)
|
rs727503858
|
|
NM_004006.3(DMD):c.2508_2509dup (p.Asn837fs)
|
rs2148631503
|
|
NM_004006.3(DMD):c.2512C>T (p.Gln838Ter)
|
rs886042351
|
|
NM_004006.3(DMD):c.2547del (p.Glu850fs)
|
rs398123895
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)
|
rs1429329309
|
|
NM_004006.3(DMD):c.2601_2602del (p.Gln869fs)
|
rs794727322
|
|
NM_004006.3(DMD):c.2603del (p.Ser868fs)
|
rs886042348
|
|
NM_004006.3(DMD):c.2622+1G>A
|
rs398123901
|
|
NM_004006.3(DMD):c.2622+1_2622+5del
|
|
|
NM_004006.3(DMD):c.2623-1G>T
|
rs794729005
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
NM_004006.3(DMD):c.2638del (p.Leu880fs)
|
rs1557380685
|
|
NM_004006.3(DMD):c.264+1G>A
|
rs1569533147
|
|
NM_004006.3(DMD):c.2642C>G (p.Ser881Ter)
|
rs747937552
|
|
NM_004006.3(DMD):c.2644del (p.Asp882fs)
|
rs1557380670
|
|
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)
|
rs398123903
|
|
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)
|
rs1060502639
|
|
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)
|
rs727503850
|
|
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)
|
rs128625227
|
|
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)
|
rs756949497
|
|
NM_004006.3(DMD):c.2803+1G>C
|
rs398123908
|
|
NM_004006.3(DMD):c.2803+1G>T
|
rs398123908
|
|
NM_004006.3(DMD):c.2804-1G>A
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-1G>C
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-1G>T
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-2A>C
|
rs794727357
|
|
NM_004006.3(DMD):c.2804-2A>T
|
rs794727357
|
|
NM_004006.3(DMD):c.2815_2816del (p.Leu939fs)
|
rs794727358
|
|
NM_004006.3(DMD):c.2816T>A (p.Leu939Ter)
|
rs398123910
|
|
NM_004006.3(DMD):c.283G>T (p.Gly95Ter)
|
rs1557058415
|
|
NM_004006.3(DMD):c.2861G>A (p.Trp954Ter)
|
rs886043909
|
|
NM_004006.3(DMD):c.28del (p.Cys10fs)
|
rs398123913
|
|
NM_004006.3(DMD):c.2914del (p.Tyr972fs)
|
rs1569564281
|
|
NM_004006.3(DMD):c.291dup (p.Asp98Ter)
|
rs797044756
|
|
NM_004006.3(DMD):c.2933_2934del (p.Arg978fs)
|
rs794727359
|
|
NM_004006.3(DMD):c.2949+1G>A
|
rs1557374482
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
NM_004006.3(DMD):c.2950-2A>T
|
rs398123915
|
|
NM_004006.3(DMD):c.2956C>T (p.Gln986Ter)
|
rs727503844
|
|
NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)
|
rs1233380601
|
|
NM_004006.3(DMD):c.2974C>T (p.Gln992Ter)
|
rs2148460570
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)
|
rs128626245
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3172C>T (p.Gln1058Ter)
|
rs2148428322
|
|
NM_004006.3(DMD):c.319dup (p.Thr107fs)
|
rs1557058353
|
|
NM_004006.3(DMD):c.3217G>T (p.Glu1073Ter)
|
rs398123931
|
|
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)
|
rs1569563751
|
|
NM_004006.3(DMD):c.3238del (p.Asp1080fs)
|
rs886043052
|
|
NM_004006.3(DMD):c.3257dup (p.Gln1087fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)
|
rs886039536
|
|
NM_004006.3(DMD):c.3276+1G>A
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+1G>C
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+1G>T
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+2del
|
rs1557369964
|
|
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)
|
rs398123935
|
|
NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs)
|
rs1557369493
|
|
NM_004006.3(DMD):c.3318_3319del (p.Asn1106fs)
|
|
|
NM_004006.3(DMD):c.3365_3366del (p.Glu1122fs)
|
rs1057518284
|
|
NM_004006.3(DMD):c.3365_3366dup (p.Phe1123fs)
|
rs1057518284
|
|
NM_004006.3(DMD):c.336G>A (p.Trp112Ter)
|
rs398123936
|
|
NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)
|
rs374744331
|
|
NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter)
|
rs886044406
|
|
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter)
|
rs863224993
|
|
NM_004006.3(DMD):c.3432+1G>A
|
rs398123937
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
NM_004006.3(DMD):c.3432+3A>G
|
rs398123938
|
|
NM_004006.3(DMD):c.3433-2_3433-1delinsCC
|
rs1557365503
|
|
NM_004006.3(DMD):c.3433-5_3434del
|
rs863224994
|
|
NM_004006.3(DMD):c.3438del (p.Val1145_Tyr1146insTer)
|
rs2148349819
|
|
NM_004006.3(DMD):c.3478_3479del (p.Val1160fs)
|
rs1603633867
|
|
NM_004006.3(DMD):c.3479dup (p.Ser1161fs)
|
|
|
NM_004006.3(DMD):c.3487C>T (p.Gln1163Ter)
|
rs1064793986
|
|
NM_004006.3(DMD):c.3497_3500del (p.Leu1166fs)
|
rs794727421
|
|
NM_004006.3(DMD):c.3500C>G (p.Ser1167Ter)
|
rs1569563278
|
|
NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)
|
rs1263708289
|
|
NM_004006.3(DMD):c.3532G>T (p.Glu1178Ter)
|
rs727503836
|
|
NM_004006.3(DMD):c.3535G>T (p.Glu1179Ter)
|
rs794727422
|
|
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)
|
rs868836192
|
|
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)
|
rs863224995
|
|
NM_004006.3(DMD):c.358-1G>A
|
rs886044582
|
|
NM_004006.3(DMD):c.358-1G>T
|
rs886044582
|
|
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)
|
rs398123942
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+2T>A
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.3603+2dup
|
rs796523999
|
|
NM_004006.3(DMD):c.3603+3A>T
|
rs1060502615
|
|
NM_004006.3(DMD):c.3603+820G>T
|
|
|
NM_004006.3(DMD):c.3639dup (p.Val1214fs)
|
rs398123943
|
|
NM_004006.3(DMD):c.365del (p.Asn122fs)
|
rs1557052797
|
|
NM_004006.3(DMD):c.3713del (p.Lys1238fs)
|
rs1557362198
|
|
NM_004006.3(DMD):c.3742C>T (p.Gln1248Ter)
|
rs1569562936
|
|
NM_004006.3(DMD):c.3747G>A (p.Trp1249Ter)
|
rs886043635
|
|
NM_004006.3(DMD):c.3747del (p.Trp1249fs)
|
rs398123945
|
|
NM_004006.3(DMD):c.3771del (p.Lys1257fs)
|
rs2148287339
|
|
NM_004006.3(DMD):c.3779_3785delinsGG (p.Thr1260fs)
|
rs398123946
|
|
NM_004006.3(DMD):c.3804G>A (p.Trp1268Ter)
|
rs1569562573
|
|
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)
|
rs794727463
|
|
NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter)
|
rs1557359192
|
|
NM_004006.3(DMD):c.3856G>T (p.Glu1286Ter)
|
rs1569562570
|
|
NM_004006.3(DMD):c.3885del (p.Pro1296fs)
|
rs1557359155
|
|
NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)
|
rs1569562466
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)
|
rs907237595
|
|
NM_004006.3(DMD):c.4071+1G>A
|
rs1060502643
|
|
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)
|
rs398123948
|
|
NM_004006.3(DMD):c.4120G>T (p.Glu1374Ter)
|
rs1557340452
|
|
NM_004006.3(DMD):c.412_413del (p.Lys138fs)
|
rs398123949
|
|
NM_004006.3(DMD):c.4151del (p.Glu1384fs)
|
rs1569561687
|
|
NM_004006.3(DMD):c.415_428del (p.Ile139fs)
|
rs794727795
|
|
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)
|
rs886043496
|
|
NM_004006.3(DMD):c.4290_4291del (p.His1430fs)
|
rs1557322838
|
|
NM_004006.3(DMD):c.4295del (p.Gln1432fs)
|
rs1557322834
|
|
NM_004006.3(DMD):c.4312C>T (p.Gln1438Ter)
|
rs886044402
|
|
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4315A>T (p.Arg1439Ter)
|
rs794727550
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.434G>C (p.Arg145Pro)
|
rs398123952
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)
|
rs398123954
|
|
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)
|
rs128626248
|
|
NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs)
|
rs398123957
|
|
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)
|
rs748769566
|
|
NM_004006.3(DMD):c.4495C>T (p.Gln1499Ter)
|
rs755686224
|
|
NM_004006.3(DMD):c.4499C>A (p.Ser1500Ter)
|
rs2147610804
|
|
NM_004006.3(DMD):c.4518+1G>T
|
rs2147610408
|
|
NM_004006.3(DMD):c.4518+5G>A
|
rs398123960
|
|
NM_004006.3(DMD):c.4523del (p.Leu1508fs)
|
rs794727567
|
|
NM_004006.3(DMD):c.4534_4535del (p.Leu1512fs)
|
rs398123961
|
|
NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs)
|
rs1064793479
|
|
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer)
|
rs398123962
|
|
NM_004006.3(DMD):c.4546A>T (p.Lys1516Ter)
|
rs1569560626
|
|
NM_004006.3(DMD):c.4550_4556del (p.Ser1517fs)
|
rs886043348
|
|
NM_004006.3(DMD):c.4568_4569dup (p.Lys1524Ter)
|
rs1603632246
|
|
NM_004006.3(DMD):c.457C>T (p.Gln153Ter)
|
rs886042983
|
|
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)
|
rs1557320194
|
|
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)
|
rs863224998
|
|
NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)
|
rs1557320151
|
|
NM_004006.3(DMD):c.4675-11A>G
|
rs1557316295
|
|
NM_004006.3(DMD):c.4675-1G>T
|
rs2097921115
|
|
NM_004006.3(DMD):c.4675-2A>G
|
rs794727575
|
|
NM_004006.3(DMD):c.468delinsGG (p.Ile157fs)
|
rs1557052599
|
|
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)
|
rs1603632117
|
|
NM_004006.3(DMD):c.4697del (p.Leu1566fs)
|
rs2147472674
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.4758G>A (p.Trp1586Ter)
|
rs1569560477
|
|
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)
|
rs1569560475
|
|
NM_004006.3(DMD):c.478_479insAC (p.Thr160fs)
|
rs1557052560
|
|
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del)
|
rs1569528101
|
|
NM_004006.3(DMD):c.4806A>T (p.Gly1602=)
|
rs727503830
|
|
NM_004006.3(DMD):c.4843A>T (p.Lys1615Ter)
|
rs398123969
|
|
NM_004006.3(DMD):c.4845+1G>T
|
rs886044501
|
|
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)
|
rs762250680
|
|
NM_004006.3(DMD):c.4898_4899del (p.Glu1633fs)
|
rs2147260712
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.5002G>T (p.Glu1668Ter)
|
rs2147258889
|
|
NM_004006.3(DMD):c.5024T>A (p.Leu1675Ter)
|
rs1557305418
|
|
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)
|
rs886042154
|
|
NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)
|
rs1295394996
|
|
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter)
|
rs886042347
|
|
NM_004006.3(DMD):c.5097_5098delinsATGAATGAATTCATT (p.Asp1699_Thr1700delinsGluTer)
|
rs398123978
|
|
NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)
|
rs765445866
|
|
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)
|
rs398123979
|
|
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)
|
rs863225001
|
|
NM_004006.3(DMD):c.5139del (p.Glu1714fs)
|
rs1557304860
|
|
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)
|
rs886042747
|
|
NM_004006.3(DMD):c.522_523del (p.His174fs)
|
rs1569528090
|
|
NM_004006.3(DMD):c.5276_5277del (p.Glu1759fs)
|
rs886041653
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.531-2A>G
|
rs398123985
|
|
NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)
|
rs886039535
|
|
NM_004006.3(DMD):c.5334del (p.Pro1779fs)
|
rs1557294341
|
|
NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)
|
rs886044455
|
|
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)
|
rs777864641
|
|
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)
|
rs398123990
|
|
NM_004006.3(DMD):c.5360dup (p.Asn1787fs)
|
rs1557294296
|
|
NM_004006.3(DMD):c.5363C>G (p.Ser1788Ter)
|
rs199774535
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5387dup (p.Leu1797fs)
|
rs1603631365
|
|
NM_004006.3(DMD):c.5390_5411del (p.Leu1797fs)
|
rs1569559198
|
|
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)
|
rs1557294228
|
|
NM_004006.3(DMD):c.5428dup (p.Glu1810fs)
|
rs2147064006
|
|
NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs)
|
rs1569559110
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
NM_004006.3(DMD):c.547dup (p.Trp183fs)
|
rs796065333
|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
NM_004006.3(DMD):c.5533G>T (p.Glu1845Ter)
|
rs1354256883
|
|
NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)
|
rs1557292678
|
|
NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)
|
rs398123991
|
|
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)
|
rs1569559097
|
|
NM_004006.3(DMD):c.5565_5568del (p.Thr1856fs)
|
|
|
NM_004006.3(DMD):c.5595del (p.Arg1865fs)
|
rs1557291242
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
NM_004006.3(DMD):c.5640T>A (p.Tyr1880Ter)
|
rs398123993
|
|
NM_004006.3(DMD):c.5646C>G (p.Tyr1882Ter)
|
rs2097753394
|
|
NM_004006.3(DMD):c.565C>T (p.Gln189Ter)
|
rs794727861
|
|
NM_004006.3(DMD):c.567del (p.Gln189fs)
|
|
|
NM_004006.3(DMD):c.5680del (p.Asp1894fs)
|
rs1569558964
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5713G>T (p.Glu1905Ter)
|
rs1557291003
|
|
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)
|
rs1569558953
|
|
NM_004006.3(DMD):c.572C>G (p.Ser191Ter)
|
rs794727863
|
|
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)
|
rs1057520764
|
|
NM_004006.3(DMD):c.5800G>T (p.Glu1934Ter)
|
rs1557290355
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)
|
rs773643220
|
|
NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)
|
rs1569558906
|
|
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)
|
rs794727666
|
|
NM_004006.3(DMD):c.5872G>T (p.Glu1958Ter)
|
rs1057524825
|
|
NM_004006.3(DMD):c.5881_5882del (p.Ser1961fs)
|
rs886044193
|
|
NM_004006.3(DMD):c.589G>T (p.Glu197Ter)
|
rs1340365803
|
|
NM_004006.3(DMD):c.5910del (p.Phe1971fs)
|
rs1557290181
|
|
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)
|
rs863225005
|
|
NM_004006.3(DMD):c.5938G>T (p.Glu1980Ter)
|
rs398124001
|
|
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
|
|
|
NM_004006.3(DMD):c.595_598dup (p.Phe200fs)
|
rs1557047875
|
|
NM_004006.3(DMD):c.5972del (p.Leu1991fs)
|
rs1569556948
|
|
NM_004006.3(DMD):c.5984del (p.Tyr1995fs)
|
rs1131691292
|
|
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)
|
rs398124002
|
|
NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter)
|
rs1569556943
|
|
NM_004006.3(DMD):c.6025_6026del (p.Gln2009fs)
|
rs1557272125
|
|
NM_004006.3(DMD):c.6072T>A (p.Cys2024Ter)
|
rs373804251
|
|
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)
|
rs863225006
|
|
NM_004006.3(DMD):c.615T>A (p.Tyr205Ter)
|
rs398124004
|
|
NM_004006.3(DMD):c.616C>T (p.Gln206Ter)
|
rs1603432076
|
|
NM_004006.3(DMD):c.6182del (p.Ala2061fs)
|
rs398124005
|
|
NM_004006.3(DMD):c.6223C>T (p.Gln2075Ter)
|
rs886043428
|
|
NM_004006.3(DMD):c.6238del (p.Gln2080fs)
|
rs794727672
|
|
NM_004006.3(DMD):c.6276C>G (p.Tyr2092Ter)
|
rs1569555987
|
|
NM_004006.3(DMD):c.627del (p.Ile209fs)
|
rs794727862
|
|
NM_004006.3(DMD):c.6290+1G>C
|
rs886041527
|
|
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)
|
rs128626250
|
|
NM_004006.3(DMD):c.6317G>A (p.Trp2106Ter)
|
rs1557218269
|
|
NM_004006.3(DMD):c.631A>T (p.Lys211Ter)
|
rs2148750714
|
|
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)
|
rs1603628483
|
|
NM_004006.3(DMD):c.6370G>T (p.Glu2124Ter)
|
rs1480437471
|
|
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)
|
rs128626251
|
|
NM_004006.3(DMD):c.6391_6392del (p.Gln2131fs)
|
rs398124012
|
|
NM_004006.3(DMD):c.6391_6392dup (p.Gln2131fs)
|
rs398124012
|
|
NM_004006.3(DMD):c.6393_6394insCA (p.Ile2132fs)
|
rs886043157
|
|
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)
|
rs1425702864
|
|
NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer)
|
rs1557218093
|
|
NM_004006.3(DMD):c.6425_6427dup (p.Trp2143Ter)
|
|
|
NM_004006.3(DMD):c.6438+1_6438+5del
|
rs2147864743
|
|
NM_004006.3(DMD):c.6472_6473del (p.Val2158fs)
|
rs1557038198
|
|
NM_004006.3(DMD):c.649+1G>A
|
rs398124032
|
|
NM_004006.3(DMD):c.649+1G>T
|
rs398124032
|
|
NM_004006.3(DMD):c.649+5G>T
|
rs1557047808
|
|
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)
|
rs1557038061
|
|
NM_004006.3(DMD):c.6580G>T (p.Glu2194Ter)
|
rs1304218104
|
|
NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6638del (p.Leu2213fs)
|
|
|
NM_004006.3(DMD):c.6649C>T (p.Gln2217Ter)
|
rs1569516166
|
|
NM_004006.3(DMD):c.6651_6652del (p.Asp2219fs)
|
rs1557011929
|
|
NM_004006.3(DMD):c.6659T>G (p.Leu2220Ter)
|
rs2150001892
|
|
NM_004006.3(DMD):c.6665_6668del (p.Glu2222fs)
|
rs1557011872
|
|
NM_004006.3(DMD):c.6670_6673dup (p.Leu2225fs)
|
rs797044743
|
|
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del)
|
rs398124034
|
|
NM_004006.3(DMD):c.6762+1G>T
|
rs886039534
|
|
NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs)
|
rs886044490
|
|
NM_004006.3(DMD):c.6868A>T (p.Lys2290Ter)
|
rs2094827879
|
|
NM_004006.3(DMD):c.6874G>T (p.Glu2292Ter)
|
rs1569515486
|
|
NM_004006.3(DMD):c.6889C>T (p.Gln2297Ter)
|
rs2094827553
|
|
NM_004006.3(DMD):c.6906G>A (p.Trp2302Ter)
|
rs398124036
|
|
NM_004006.3(DMD):c.6911del (p.Lys2304fs)
|
rs2149988984
|
|
NM_004006.3(DMD):c.6982A>T (p.Lys2328Ter)
|
rs754896795
|
|
NM_004006.3(DMD):c.6986del (p.Lys2329fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.6986dup (p.Leu2330fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.7052_7053del (p.Gln2350_Leu2351insTer)
|
rs1556962326
|
|
NM_004006.3(DMD):c.7070del (p.Pro2357fs)
|
|
|
NM_004006.3(DMD):c.7075C>T (p.Gln2359Ter)
|
rs2149679784
|
|
NM_004006.3(DMD):c.7099_7133del (p.Glu2367fs)
|
rs2149493395
|
|
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)
|
rs863225008
|
|
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)
|
rs1556930579
|
|
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)
|
rs770183212
|
|
NM_004006.3(DMD):c.7189C>T (p.Gln2397Ter)
|
rs398124042
|
|
NM_004006.3(DMD):c.7247dup (p.Leu2416fs)
|
rs797044764
|
|
NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)
|
rs1569451994
|
|
NM_004006.3(DMD):c.7268del (p.Lys2423fs)
|
rs1556917057
|
|
NM_004006.3(DMD):c.7295_7296del (p.Thr2432fs)
|
rs794727746
|
|
NM_004006.3(DMD):c.7309+1G>A
|
rs398124044
|
|
NM_004006.3(DMD):c.7309+5G>A
|
|
|
NM_004006.3(DMD):c.7444del (p.Thr2483fs)
|
rs794727749
|
|
NM_004006.3(DMD):c.745C>T (p.Gln249Ter)
|
rs2147604940
|
|
NM_004006.3(DMD):c.7510G>T (p.Glu2504Ter)
|
rs2149244602
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
NM_004006.3(DMD):c.7661-1G>C
|
rs1556806346
|
|
NM_004006.3(DMD):c.7661-2A>G
|
rs1556806356
|
|
NM_004006.3(DMD):c.7682G>A (p.Trp2561Ter)
|
rs398124052
|
|
NM_004006.3(DMD):c.7683G>A (p.Trp2561Ter)
|
rs398124053
|
|
NM_004006.3(DMD):c.776_777del (p.Lys259fs)
|
rs1569469138
|
|
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)
|
rs398124055
|
|
NM_004006.3(DMD):c.7771del (p.Glu2591fs)
|
rs1603445311
|
|
NM_004006.3(DMD):c.77del (p.Asn26fs)
|
rs2147755024
|
|
NM_004006.3(DMD):c.7872+1G>A
|
rs1603445278
|
|
NM_004006.3(DMD):c.7872+1G>T
|
rs1603445278
|
|
NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)
|
rs398124058
|
|
NM_004006.3(DMD):c.7922del (p.Asn2641fs)
|
rs398124059
|
|
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)
|
rs1569186252
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
NM_004006.3(DMD):c.8061del (p.His2688fs)
|
rs1569140330
|
|
NM_004006.3(DMD):c.8064_8065del (p.His2688fs)
|
rs398124060
|
|
NM_004006.3(DMD):c.8066_8070del (p.Arg2689fs)
|
rs1556764934
|
|
NM_004006.3(DMD):c.8069T>G (p.Leu2690Ter)
|
rs398124061
|
|
NM_004006.3(DMD):c.8074C>T (p.Gln2692Ter)
|
rs2148423120
|
|
NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter)
|
rs1556764922
|
|
NM_004006.3(DMD):c.8086del (p.Leu2696fs)
|
rs398124062
|
|
NM_004006.3(DMD):c.8105_8111dup (p.Trp2704fs)
|
rs886042373
|
|
NM_004006.3(DMD):c.8184del (p.Lys2729fs)
|
rs794727763
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)
|
rs1556764743
|
|
NM_004006.3(DMD):c.8214G>A (p.Trp2738Ter)
|
rs2078916448
|
|
NM_004006.3(DMD):c.8218-2A>G
|
rs886039478
|
|
NM_004006.3(DMD):c.8263del (p.Leu2755fs)
|
rs1556669914
|
|
NM_004006.3(DMD):c.831+1G>T
|
rs1239018406
|
|
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)
|
rs863225012
|
|
NM_004006.3(DMD):c.8362G>T (p.Glu2788Ter)
|
rs1603280598
|
|
NM_004006.3(DMD):c.8374_8375del (p.Lys2792fs)
|
rs398124070
|
|
NM_004006.3(DMD):c.8390+1G>A
|
rs1064794569
|
|
NM_004006.3(DMD):c.8390+1G>C
|
rs1064794569
|
|
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)
|
rs2147076500
|
|
NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter)
|
rs1603264641
|
|
NM_004006.3(DMD):c.8479G>T (p.Glu2827Ter)
|
rs2147075563
|
|
NM_004006.3(DMD):c.8483T>G (p.Leu2828Ter)
|
rs2069915167
|
|
NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter)
|
rs753225356
|
|
NM_004006.3(DMD):c.8524C>T (p.Gln2842Ter)
|
rs1569547229
|
|
NM_004006.3(DMD):c.8548-2A>G
|
rs2068042914
|
|
NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)
|
rs1556656851
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
NM_004006.3(DMD):c.8647A>T (p.Lys2883Ter)
|
rs1556656767
|
|
NM_004006.3(DMD):c.8652_8653del (p.Tyr2885fs)
|
rs398124075
|
|
NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)
|
rs201361100
|
|
NM_004006.3(DMD):c.8668+1G>A
|
rs2149256957
|
|
NM_004006.3(DMD):c.8669-1G>C
|
rs886044324
|
|
NM_004006.3(DMD):c.8669-2A>C
|
rs794727770
|
|
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)
|
rs727503802
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)
|
rs868688877
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)
|
rs1556656184
|
|
NM_004006.3(DMD):c.8912_8913del (p.Leu2971fs)
|
rs398124078
|
|
NM_004006.3(DMD):c.8912_8913dup (p.Gln2972fs)
|
rs398124078
|
|
NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter)
|
rs1060502633
|
|
NM_004006.3(DMD):c.8937+1G>T
|
rs1556656077
|
|
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)
|
rs128625229
|
|
NM_004006.3(DMD):c.9001C>T (p.Gln3001Ter)
|
rs2149075577
|
|
NM_004006.3(DMD):c.9033_9040del (p.Tyr3012fs)
|
rs1602937725
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
NM_004006.3(DMD):c.9125del (p.His3042fs)
|
rs398124080
|
|
NM_004006.3(DMD):c.9148C>T (p.Gln3050Ter)
|
rs886039533
|
|
NM_004006.3(DMD):c.9158_9161del (p.Leu3053fs)
|
rs398124081
|
|
NM_004006.3(DMD):c.9163+2T>G
|
rs1556539065
|
|
NM_004006.3(DMD):c.9164-1G>C
|
rs398124082
|
|
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)
|
rs863225015
|
|
NM_004006.3(DMD):c.9216C>G (p.Tyr3072Ter)
|
rs794727820
|
|
NM_004006.3(DMD):c.9219_9222del (p.Tyr3072_Tyr3073insTer)
|
rs2056573240
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
NM_004006.3(DMD):c.9231dup (p.Thr3078fs)
|
rs1603253605
|
|
NM_004006.3(DMD):c.93+1G>A
|
rs886042604
|
|
NM_004006.3(DMD):c.93+1_93+5del
|
rs886044495
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
NM_004006.3(DMD):c.9361+1G>A
|
rs398124094
|
|
NM_004006.3(DMD):c.9361+1G>C
|
rs398124094
|
|
NM_004006.3(DMD):c.9361+1G>T
|
|
|
NM_004006.3(DMD):c.9370_9371del (p.Leu3124fs)
|
rs1064793644
|
|
NM_004006.3(DMD):c.94-1G>A
|
rs863225016
|
|
NM_004006.3(DMD):c.94-1G>T
|
rs863225016
|
|
NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs)
|
rs886039532
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NM_004006.3(DMD):c.9503del (p.Leu3168fs)
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rs886039681
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NM_004006.3(DMD):c.9551dup (p.Asn3184fs)
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rs863225017
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NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly)
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rs1556280638
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NM_004006.3(DMD):c.9563+1G>A
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rs886043989
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NM_004006.3(DMD):c.9564-1G>A
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rs398124096
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NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
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rs104894797
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NM_004006.3(DMD):c.961-5831C>T
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rs398124099
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NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)
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rs1569463953
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NM_004006.3(DMD):c.9634del (p.Glu3212fs)
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NM_004006.3(DMD):c.9650-2A>G
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rs398124100
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NM_004006.3(DMD):c.9689del (p.Asp3230fs)
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NM_004006.3(DMD):c.9691C>T (p.Gln3231Ter)
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rs1556235825
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NM_004006.3(DMD):c.9727C>T (p.Gln3243Ter)
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rs1569460722
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NM_004006.3(DMD):c.9767dup (p.Ser3257fs)
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rs398124103
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NM_004006.3(DMD):c.9807+1G>T
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rs1569460610
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NM_004006.3(DMD):c.9808-1G>A
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rs2148335739
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NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)
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rs398124104
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NM_004006.3(DMD):c.9862G>T (p.Glu3288Ter)
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rs398124106
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NM_004006.3(DMD):c.9880_9881dup (p.Trp3294fs)
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rs1569427535
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NM_004006.3(DMD):c.9900_9901dup (p.Val3301fs)
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NM_004006.3(DMD):c.9975-1G>A
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rs1556040444
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NM_004006.3(DMD):c.9975-2A>C
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rs886044502
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NM_004006.3(DMD):c.9978C>A (p.Tyr3326Ter)
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NM_004006.3(DMD):c.9978C>G (p.Tyr3326Ter)
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rs794727832
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NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
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rs398122853
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NM_004006.3:c.(?_6439-1)_(8217+1_?)del
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NM_004006.3:c.(?_7310-1)_(8217+1_?)del
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NM_004006.3:c.1482+7243_1602+5388del
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NM_004006.3:c.6615-480_6913-24731del
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Single allele
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