NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
|
rs1295935628
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:31792077-31893490)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
|
|
|
NC_000023.11:g.32390170_32390182del
|
rs2147621477
|
|
NC_000023.11:g.32565874_32565883dup
|
rs2149095626
|
|
NC_000023.11:g.[23617262_23617265del;23617266_31168033inv;31168034_31168042delinsACATTAGCCCATGTCAGAAATTTCTAACATTAGCC]
|
rs2146758648
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10223+4A>G
|
rs2148290215
|
|
NM_004006.3(DMD):c.10223+5G>C
|
rs2148290176
|
|
NM_004006.3(DMD):c.10224dup (p.Pro3409fs)
|
rs2148280837
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
NM_004006.3(DMD):c.10477del (p.Gln3493fs)
|
rs2148183751
|
|
NM_004006.3(DMD):c.10677dup (p.Ala3560fs)
|
rs2147934458
|
|
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)
|
rs794726993
|
|
NM_004006.3(DMD):c.1098dup (p.Glu367fs)
|
rs2146833198
|
|
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)
|
rs1556875224
|
|
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)
|
rs1602169535
|
|
NM_004006.3(DMD):c.1480A>T (p.Lys494Ter)
|
rs1234153462
|
|
NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs)
|
rs796065325
|
|
NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)
|
rs2149265022
|
|
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs)
|
rs398123863
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
NM_004006.3(DMD):c.1602+2T>A
|
rs2149264374
|
|
NM_004006.3(DMD):c.1602G>T (p.Lys534Asn)
|
rs1556834513
|
|
NM_004006.3(DMD):c.1603-1G>T
|
|
|
NM_004006.3(DMD):c.1704+1G>T
|
rs794727123
|
|
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)
|
rs128626233
|
|
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter)
|
rs2149095319
|
|
NM_004006.3(DMD):c.1941dup (p.Ala648fs)
|
rs2149094788
|
|
NM_004006.3(DMD):c.208A>T (p.Arg70Ter)
|
rs2080510348
|
|
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs)
|
rs2148804513
|
|
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs)
|
rs398123881
|
|
NM_004006.3(DMD):c.2293-2_2294del
|
rs2148691727
|
|
NM_004006.3(DMD):c.2305G>T (p.Glu769Ter)
|
rs2148691516
|
|
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter)
|
rs763844939
|
|
NM_004006.3(DMD):c.2380+3A>C
|
rs1569564916
|
|
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)
|
rs753662330
|
|
NM_004006.3(DMD):c.2499del (p.Ile833fs)
|
rs2148631657
|
|
NM_004006.3(DMD):c.261_264+3del
|
rs2148984206
|
|
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)
|
rs1060502639
|
|
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter)
|
rs2148485357
|
|
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)
|
rs767387334
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3162+1G>A
|
rs1335666832
|
|
NM_004006.3(DMD):c.3256A>T (p.Lys1086Ter)
|
rs745585519
|
|
NM_004006.3(DMD):c.3257dup (p.Gln1087fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)
|
rs886039536
|
|
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)
|
rs398123935
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter)
|
rs2148348451
|
|
NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter)
|
rs267606771
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.394C>T (p.Gln132Ter)
|
rs2148807584
|
|
NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs)
|
rs2148194212
|
|
NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs)
|
rs2148193225
|
|
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter)
|
rs2147935387
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs)
|
rs2147613101
|
|
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)
|
rs398123954
|
|
NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter)
|
rs2147472174
|
|
NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter)
|
rs2147470742
|
|
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)
|
rs1569560475
|
|
NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs)
|
rs2147261153
|
|
NM_004006.3(DMD):c.494A>T (p.Asp165Val)
|
rs1557052542
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.503C>A (p.Ala168Asp)
|
rs128626236
|
|
NM_004006.3(DMD):c.5078del (p.Lys1693fs)
|
rs2147253701
|
|
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)
|
rs863225001
|
|
NM_004006.3(DMD):c.5131del (p.Gln1711fs)
|
rs2147252708
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)
|
rs2147031776
|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
NM_004006.3(DMD):c.5632C>T (p.Gln1878Ter)
|
rs2146992010
|
|
NM_004006.3(DMD):c.568C>T (p.Gln190Ter)
|
rs2148751523
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5740-1G>T
|
rs2148813707
|
|
NM_004006.3(DMD):c.574_577del (p.Ala192fs)
|
rs2148751467
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)
|
rs794727666
|
|
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)
|
rs398124002
|
|
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter)
|
rs2148456401
|
|
NM_004006.3(DMD):c.630del (p.Lys211fs)
|
rs1557047827
|
|
NM_004006.3(DMD):c.633dup (p.Leu212fs)
|
rs2148750700
|
|
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)
|
rs1425702864
|
|
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs)
|
rs2150188102
|
|
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)
|
rs779739455
|
|
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter)
|
rs2150187643
|
|
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter)
|
rs1557010214
|
|
NM_004006.3(DMD):c.691T>A (p.Tyr231Asn)
|
rs128626237
|
|
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter)
|
rs781054741
|
|
NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter)
|
rs2149680248
|
|
NM_004006.3(DMD):c.709C>T (p.Gln237Ter)
|
rs2147605826
|
|
NM_004006.3(DMD):c.7309+4del
|
rs2149424269
|
|
NM_004006.3(DMD):c.7310-1G>A
|
rs1556880354
|
|
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs)
|
rs2147605245
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
NM_004006.3(DMD):c.7661-2A>C
|
rs1556806356
|
|
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter)
|
rs2148733515
|
|
NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter)
|
rs2148732436
|
|
NM_004006.3(DMD):c.8028-1G>A
|
rs2148423696
|
|
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)
|
rs2148421809
|
|
NM_004006.3(DMD):c.8218-2A>G
|
rs886039478
|
|
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs)
|
rs2147176325
|
|
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)
|
rs863225012
|
|
NM_004006.3(DMD):c.8391-1_8391delinsAA
|
rs1060502619
|
|
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)
|
rs2147076500
|
|
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)
|
rs2147075923
|
|
NM_004006.3(DMD):c.8548-1G>C
|
rs1569546198
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
NM_004006.3(DMD):c.8668+1G>A
|
rs2149256957
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)
|
rs128625229
|
|
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter)
|
rs2148492200
|
|
NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)
|
rs2148296981
|
|
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)
|
rs863225015
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter)
|
rs2147649257
|
|
NM_004006.3(DMD):c.9281_9286+2del
|
rs2147648412
|
|
NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs)
|
rs2147648529
|
|
NM_004006.3(DMD):c.9287-1G>A
|
rs2147071925
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
NM_004006.3(DMD):c.9361+1G>A
|
rs398124094
|
|
NM_004006.3(DMD):c.9362-1G>C
|
rs2148593122
|
|
NM_004006.3(DMD):c.94-1G>T
|
rs863225016
|
|
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter)
|
rs2148591514
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs)
|
rs2148564018
|
|
NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs)
|
rs2148563899
|
|
NM_004006.3(DMD):c.9767del (p.Gly3256fs)
|
rs398124103
|
|
NM_004006.3(DMD):c.9808-2A>G
|
rs1602456486
|
|
NM_004006.3(DMD):c.9853dup (p.Met3285fs)
|
rs2148335170
|
|
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs)
|
rs398124105
|
|
NM_004006.3(DMD):c.9906del (p.Ala3303fs)
|
rs2148334397
|
|
NM_004006.3(DMD):c.9974+2T>C
|
rs2148333619
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
NM_004006.3:c.(1602+1_1603-1)_(6438+1_6439-1)del
|
|
|
Single allele
|
|
|