NM_004006.3(DMD):c.3432+2036A>C
|
rs182575709
|
0.00580
|
NM_004006.3(DMD):c.*489C>T
|
rs45549534
|
0.00133
|
NM_004006.3(DMD):c.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_004006.3(DMD):c.*2268C>T
|
rs746158689
|
0.00075
|
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
NM_004006.3(DMD):c.4125T>C (p.Thr1375=)
|
rs144329742
|
0.00069
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)
|
rs147904018
|
0.00054
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_004006.3(DMD):c.9225-5795G>A
|
rs138287985
|
0.00025
|
NM_004006.3(DMD):c.2884C>G (p.Leu962Val)
|
rs150959827
|
0.00024
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)
|
rs199588981
|
0.00018
|
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)
|
rs145266970
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00013
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00009
|
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)
|
rs369055628
|
0.00008
|
NM_004006.3(DMD):c.733A>G (p.Ile245Val)
|
rs140510985
|
0.00008
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
NM_004006.3(DMD):c.4677A>T (p.Val1559=)
|
rs779181100
|
0.00007
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)
|
rs148511512
|
0.00006
|
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)
|
rs1057519106
|
0.00006
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.2607G>C (p.Gln869His)
|
rs398123898
|
0.00005
|
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)
|
rs199808421
|
0.00005
|
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)
|
rs398123982
|
0.00005
|
NM_004006.3(DMD):c.6132T>C (p.Ser2044=)
|
rs761338933
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004006.3(DMD):c.7781A>G (p.Gln2594Arg)
|
rs777178221
|
0.00005
|
NM_004006.3(DMD):c.1083A>G (p.Thr361=)
|
rs767325921
|
0.00004
|
NM_004006.3(DMD):c.2623-9A>G
|
rs200997841
|
0.00004
|
NM_004006.3(DMD):c.2630T>G (p.Val877Gly)
|
rs769516870
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)
|
rs758932385
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004006.3(DMD):c.2424G>C (p.Leu808=)
|
rs748257989
|
0.00003
|
NM_004006.3(DMD):c.3114G>A (p.Glu1038=)
|
rs143810752
|
0.00003
|
NM_004006.3(DMD):c.3132G>A (p.Glu1044=)
|
rs758283681
|
0.00003
|
NM_004006.3(DMD):c.9108G>A (p.Arg3036=)
|
rs1276369095
|
0.00003
|
NM_004006.3(DMD):c.104A>C (p.Gln35Pro)
|
rs1477107648
|
0.00002
|
NM_004006.3(DMD):c.10975G>A (p.Val3659Met)
|
rs768532317
|
0.00002
|
NM_004006.3(DMD):c.159C>A (p.Leu53=)
|
rs762245872
|
0.00002
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
NM_004006.3(DMD):c.3971G>A (p.Arg1324His)
|
rs768990357
|
0.00002
|
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)
|
rs1431604157
|
0.00002
|
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)
|
rs1800271
|
0.00002
|
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)
|
rs377039314
|
0.00002
|
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln)
|
rs201818335
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_004006.3(DMD):c.10160C>T (p.Ala3387Val)
|
rs202219782
|
0.00001
|
NM_004006.3(DMD):c.10712G>A (p.Arg3571His)
|
rs935091512
|
0.00001
|
NM_004006.3(DMD):c.10734C>A (p.Ile3578=)
|
rs762374364
|
0.00001
|
NM_004006.3(DMD):c.1209A>T (p.Gly403=)
|
rs755647122
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.284G>T (p.Gly95Val)
|
rs1381812538
|
0.00001
|
NM_004006.3(DMD):c.2991C>T (p.Tyr997=)
|
rs863224992
|
0.00001
|
NM_004006.3(DMD):c.3789A>G (p.Glu1263=)
|
rs1384918904
|
0.00001
|
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)
|
rs770827878
|
0.00001
|
NM_004006.3(DMD):c.3999C>T (p.Gly1333=)
|
rs140759792
|
0.00001
|
NM_004006.3(DMD):c.4383C>T (p.Phe1461=)
|
rs752977828
|
0.00001
|
NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg)
|
rs745462674
|
0.00001
|
NM_004006.3(DMD):c.5601A>C (p.Gln1867His)
|
rs1057519179
|
0.00001
|
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
|
rs398124008
|
0.00001
|
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)
|
rs139937177
|
0.00001
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)
|
rs965718917
|
0.00001
|
NM_004006.3(DMD):c.930T>C (p.Ser310=)
|
rs779577176
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:31645790-31697703)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31791729-31986631)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31838092-31893490)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31854835-31893490)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x2
|
|
|
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x4
|
|
|
GRCh37/hg19 Xp21.1(chrX:32429869-32536248)x3
|
|
|
GRCh37/hg19 Xp21.1(chrX:32456356-32490428)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32563274-32717411)x2
|
|
|
GRCh37/hg19 Xp21.1(chrX:32662249-32663269)x3
|
|
|
GRCh37/hg19 Xp21.2(chrX:31187560-31187718)x0
|
|
|
NM_004006.3(DMD):c.*479CA[6]
|
rs763028610
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
|
|
|
NM_004006.3(DMD):c.10034G>C (p.Arg3345Pro)
|
rs2041036250
|
|
NM_004006.3(DMD):c.10085C>G (p.Pro3362Arg)
|
rs1569423459
|
|
NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter)
|
rs886042691
|
|
NM_004006.3(DMD):c.10373G>A (p.Ser3458Asn)
|
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
NM_004006.3(DMD):c.10604G>T (p.Gly3535Val)
|
rs1555998259
|
|
NM_004006.3(DMD):c.10668T>A (p.Ala3556=)
|
|
|
NM_004006.3(DMD):c.1102A>G (p.Ile368Val)
|
|
|
NM_004006.3(DMD):c.1104T>A (p.Ile368=)
|
rs2059694784
|
|
NM_004006.3(DMD):c.116dup (p.Asn39fs)
|
|
|
NM_004006.3(DMD):c.1195A>G (p.Ile399Val)
|
rs2146821417
|
|
NM_004006.3(DMD):c.1211G>C (p.Ser404Thr)
|
|
|
NM_004006.3(DMD):c.1223G>T (p.Gly408Val)
|
|
|
NM_004006.3(DMD):c.1329C>T (p.Ser443=)
|
rs1060502631
|
|
NM_004006.3(DMD):c.1462C>A (p.Arg488Ser)
|
rs758932385
|
|
NM_004006.3(DMD):c.1548A>T (p.Val516=)
|
rs779579215
|
|
NM_004006.3(DMD):c.1583C>T (p.Ala528Val)
|
rs753624531
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.1704+4T>C
|
|
|
NM_004006.3(DMD):c.1774_1804del (p.Asp592fs)
|
rs1601808175
|
|
NM_004006.3(DMD):c.2648T>G (p.Leu883Arg)
|
|
|
NM_004006.3(DMD):c.266T>C (p.Val89Ala)
|
rs1557058441
|
|
NM_004006.3(DMD):c.2981_2982delinsTA (p.Ser994Ile)
|
|
|
NM_004006.3(DMD):c.31+134AT[6]
|
rs764891575
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3229G>T (p.Ala1077Ser)
|
|
|
NM_004006.3(DMD):c.3276+1G>C
|
rs398123934
|
|
NM_004006.3(DMD):c.3375G>C (p.Ser1125=)
|
rs191164314
|
|
NM_004006.3(DMD):c.3479dup (p.Ser1161fs)
|
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.3611A>T (p.Lys1204Ile)
|
rs1603633687
|
|
NM_004006.3(DMD):c.3850G>A (p.Glu1284Lys)
|
rs1557359192
|
|
NM_004006.3(DMD):c.4003G>C (p.Val1335Leu)
|
rs2098269145
|
|
NM_004006.3(DMD):c.4292A>G (p.Asn1431Ser)
|
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.4675-1G>T
|
rs2097921115
|
|
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)
|
rs398123965
|
|
NM_004006.3(DMD):c.4986T>C (p.Ala1662=)
|
rs2147259262
|
|
NM_004006.3(DMD):c.5128C>A (p.Pro1710Thr)
|
|
|
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)
|
rs886042747
|
|
NM_004006.3(DMD):c.5274A>C (p.Ser1758=)
|
|
|
NM_004006.3(DMD):c.5278C>T (p.Leu1760Phe)
|
|
|
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly)
|
rs376202643
|
|
NM_004006.3(DMD):c.5713G>C (p.Glu1905Gln)
|
|
|
NM_004006.3(DMD):c.5923-12T>G
|
rs2148596650
|
|
NM_004006.3(DMD):c.6118-75AT[9]
|
|
|
NM_004006.3(DMD):c.649G>A (p.Asp217Asn)
|
rs2077187880
|
|
NM_004006.3(DMD):c.6889C>T (p.Gln2297Ter)
|
rs2094827553
|
|
NM_004006.3(DMD):c.7009T>G (p.Leu2337Val)
|
rs1603513931
|
|
NM_004006.3(DMD):c.7169A>G (p.Tyr2390Cys)
|
|
|
NM_004006.3(DMD):c.7575C>G (p.Pro2525=)
|
rs1569308187
|
|
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)
|
rs368803197
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
NM_004006.3(DMD):c.76A>G (p.Asn26Asp)
|
rs1057521321
|
|
NM_004006.3(DMD):c.7877T>C (p.Leu2626Ser)
|
|
|
NM_004006.3(DMD):c.7967C>A (p.Thr2656Asn)
|
rs1569186515
|
|
NM_004006.3(DMD):c.79dup (p.Ala27fs)
|
rs1057519180
|
|
NM_004006.3(DMD):c.8169G>C (p.Arg2723Ser)
|
rs1569139778
|
|
NM_004006.3(DMD):c.8217+32103G>T
|
rs2148165214
|
|
NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)
|
|
|
NM_004006.3(DMD):c.8830G>A (p.Asp2944Asn)
|
|
|
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys)
|
rs769658853
|
|
NM_004006.3(DMD):c.9030A>G (p.Ser3010=)
|
|
|
NM_004006.3(DMD):c.9176G>C (p.Gly3059Ala)
|
rs2056577235
|
|
NM_004006.3(DMD):c.960+1G>T
|
rs199783662
|
|
NM_004006.3(DMD):c.9602C>T (p.Thr3201Ile)
|
|
|
NM_004006.3(DMD):c.9896A>G (p.His3299Arg)
|
rs398124107
|
|
NM_004006.3(DMD):c.9900_9901dup (p.Val3301fs)
|
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|