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.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
|
rs398124008
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:31766614-31855217)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31766614-31896429)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31836968-31945018)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31986184-31986956)x1
|
|
|
GRCh38/hg38 Xp21.1(chrX:32203741-32353533)x1
|
|
|
GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2
|
|
|
NM_000109.4(DMD):c.10530-1dup
|
rs1555998436
|
|
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.10150del (p.Arg3384fs)
|
rs886039663
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
NM_004006.3(DMD):c.10432dup (p.Ser3478fs)
|
rs2148184571
|
|
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.10651C>T (p.Gln3551Ter)
|
rs1064793742
|
|
NM_004006.3(DMD):c.1150-1G>A
|
rs886043251
|
|
NM_004006.3(DMD):c.11G>A (p.Trp4Ter)
|
rs1384868120
|
|
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer)
|
rs1602459861
|
|
NM_004006.3(DMD):c.1288A>T (p.Arg430Ter)
|
rs886041802
|
|
NM_004006.3(DMD):c.1323dup (p.Gln442fs)
|
rs1602459252
|
|
NM_004006.3(DMD):c.133C>T (p.Gln45Ter)
|
rs794727499
|
|
NM_004006.3(DMD):c.1602+1G>A
|
rs1057517960
|
|
NM_004006.3(DMD):c.1620G>A (p.Trp540Ter)
|
rs1569230389
|
|
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)
|
rs863224984
|
|
NM_004006.3(DMD):c.1693dup (p.Thr565fs)
|
rs1601810456
|
|
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)
|
rs886041344
|
|
NM_004006.3(DMD):c.1928G>A (p.Trp643Ter)
|
rs2149094851
|
|
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)
|
rs1603636537
|
|
NM_004006.3(DMD):c.1977_1981del (p.Lys660fs)
|
rs1556802365
|
|
NM_004006.3(DMD):c.2168+1G>A
|
rs1057518207
|
|
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.2281_2285del (p.Glu761fs)
|
rs398123881
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
NM_004006.3(DMD):c.2623-1G>T
|
rs794729005
|
|
NM_004006.3(DMD):c.2803+1G>T
|
rs398123908
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
NM_004006.3(DMD):c.2956C>T (p.Gln986Ter)
|
rs727503844
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
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.3365_3366dup (p.Phe1123fs)
|
rs1057518284
|
|
NM_004006.3(DMD):c.3478_3479del (p.Val1160fs)
|
rs1603633867
|
|
NM_004006.3(DMD):c.3487C>T (p.Gln1163Ter)
|
rs1064793986
|
|
NM_004006.3(DMD):c.3500C>G (p.Ser1167Ter)
|
rs1569563278
|
|
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)
|
rs863224995
|
|
NM_004006.3(DMD):c.3603+3A>T
|
rs1060502615
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)
|
rs886043496
|
|
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.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.4568_4569dup (p.Lys1524Ter)
|
rs1603632246
|
|
NM_004006.3(DMD):c.4675-11A>G
|
rs1557316295
|
|
NM_004006.3(DMD):c.468delinsGG (p.Ile157fs)
|
rs1557052599
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del)
|
rs1569528101
|
|
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)
|
rs762250680
|
|
NM_004006.3(DMD):c.5024T>A (p.Leu1675Ter)
|
rs1557305418
|
|
NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)
|
rs1295394996
|
|
NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)
|
rs765445866
|
|
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)
|
rs863225001
|
|
NM_004006.3(DMD):c.5276_5277del (p.Glu1759fs)
|
rs886041653
|
|
NM_004006.3(DMD):c.531-2A>G
|
rs398123985
|
|
NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)
|
rs886039535
|
|
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)
|
rs777864641
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
NM_004006.3(DMD):c.5533G>T (p.Glu1845Ter)
|
rs1354256883
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)
|
rs1057520764
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5872G>T (p.Glu1958Ter)
|
rs1057524825
|
|
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)
|
rs863225005
|
|
NM_004006.3(DMD):c.5984del (p.Tyr1995fs)
|
rs1131691292
|
|
NM_004006.3(DMD):c.6290+1G>C
|
rs886041527
|
|
NM_004006.3(DMD):c.6317G>A (p.Trp2106Ter)
|
rs1557218269
|
|
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)
|
rs1603628483
|
|
NM_004006.3(DMD):c.649+1G>T
|
rs398124032
|
|
NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del)
|
rs398124034
|
|
NM_004006.3(DMD):c.6762+1G>T
|
rs886039534
|
|
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.745C>T (p.Gln249Ter)
|
rs2147604940
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
NM_004006.3(DMD):c.7771del (p.Glu2591fs)
|
rs1603445311
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter)
|
rs1556764922
|
|
NM_004006.3(DMD):c.8218-2A>G
|
rs886039478
|
|
NM_004006.3(DMD):c.8362G>T (p.Glu2788Ter)
|
rs1603280598
|
|
NM_004006.3(DMD):c.8390+1G>A
|
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.8491C>T (p.Gln2831Ter)
|
rs753225356
|
|
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.8669-1G>C
|
rs886044324
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
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.9148C>T (p.Gln3050Ter)
|
rs886039533
|
|
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)
|
rs863225015
|
|
NM_004006.3(DMD):c.9231dup (p.Thr3078fs)
|
rs1603253605
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
NM_004006.3(DMD):c.9370_9371del (p.Leu3124fs)
|
rs1064793644
|
|
NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs)
|
rs886039532
|
|
NM_004006.3(DMD):c.9503del (p.Leu3168fs)
|
rs886039681
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
NM_004006.3(DMD):c.9691C>T (p.Gln3231Ter)
|
rs1556235825
|
|
NM_004006.3(DMD):c.9862G>T (p.Glu3288Ter)
|
rs398124106
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|