NM_004006.3(DMD):c.2645= (p.Asp882=)
|
rs228406
|
0.99999
|
NM_004006.3(DMD):c.9649+15T>C
|
rs2293668
|
0.84201
|
NM_004006.3(DMD):c.7096= (p.Lys2366=)
|
rs1800275
|
0.78847
|
NM_004006.3(DMD):c.5234G>A (p.Arg1745His)
|
rs1801187
|
0.36912
|
NM_004006.3(DMD):c.8027+11C>T
|
rs2270672
|
0.33026
|
NM_004006.3(DMD):c.2168+13T>C
|
rs228373
|
0.32216
|
NM_004006.3(DMD):c.7728T>C (p.Asn2576=)
|
rs1801188
|
0.15883
|
NM_004006.3(DMD):c.837G>A (p.Thr279=)
|
rs1800265
|
0.12849
|
NM_004006.3(DMD):c.1635A>G (p.Arg545=)
|
rs5927083
|
0.12751
|
NM_004006.3(DMD):c.4234-13A>G
|
rs41303181
|
0.05327
|
NM_004006.3(DMD):c.8810= (p.Arg2937=)
|
rs1800280
|
0.04757
|
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.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val)
|
rs28715870
|
0.02748
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_004006.3(DMD):c.-8T>A
|
rs113726961
|
0.02450
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
NM_004006.3(DMD):c.5724T>C (p.Asp1908=)
|
rs143159113
|
0.01630
|
NM_004006.3(DMD):c.3705C>T (p.Ala1235=)
|
rs143628111
|
0.01510
|
NM_004006.3(DMD):c.4344+17A>T
|
rs72468646
|
0.01496
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_004006.3(DMD):c.8668+19A>G
|
rs148241865
|
0.01001
|
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)
|
rs16990169
|
0.00981
|
NM_004006.3(DMD):c.1332-18C>T
|
rs193153078
|
0.00806
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_004006.3(DMD):c.7476T>C (p.Val2492=)
|
rs142153424
|
0.00626
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
NM_004006.3(DMD):c.1718C>T (p.Ala573Val)
|
rs5972599
|
0.00436
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)
|
rs3827462
|
0.00356
|
NM_004006.3(DMD):c.3276+17A>T
|
rs184220727
|
0.00329
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)
|
rs72468638
|
0.00279
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004006.3(DMD):c.10087-20C>T
|
rs41303187
|
0.00198
|
NM_004006.3(DMD):c.2380+11G>A
|
rs183120304
|
0.00195
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00143
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_004006.3(DMD):c.832-20C>T
|
rs201026834
|
0.00052
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_004006.3(DMD):c.3163-18T>C
|
rs72468662
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn)
|
rs72468630
|
0.00021
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser)
|
rs187926894
|
0.00015
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_004006.3(DMD):c.4876G>A (p.Val1626Met)
|
rs776998846
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
NM_004006.3(DMD):c.1688G>A (p.Arg563His)
|
rs191197223
|
0.00005
|
NM_004006.3(DMD):c.4456C>T (p.Pro1486Ser)
|
rs762125605
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004006.3(DMD):c.8390+18G>A
|
rs756363477
|
0.00005
|
NM_004006.3(DMD):c.2076A>G (p.Glu692=)
|
rs764950114
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser)
|
rs910214749
|
0.00004
|
NM_004006.3(DMD):c.4845+10A>G
|
rs199958675
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)
|
rs201532491
|
0.00004
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004006.3(DMD):c.3114G>A (p.Glu1038=)
|
rs143810752
|
0.00003
|
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr)
|
rs777274879
|
0.00003
|
NM_004006.3(DMD):c.1603-11C>T
|
rs370463654
|
0.00002
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)
|
rs371646182
|
0.00002
|
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)
|
rs1431604157
|
0.00002
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
NM_004006.3(DMD):c.9695G>A (p.Arg3232His)
|
rs751095907
|
0.00002
|
NM_004006.3(DMD):c.1000T>A (p.Leu334Met)
|
rs1280415176
|
0.00001
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
NM_004006.3(DMD):c.1959T>C (p.Asn653=)
|
rs770238198
|
0.00001
|
NM_004006.3(DMD):c.2905G>A (p.Val969Ile)
|
rs750582245
|
0.00001
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
NM_004006.3(DMD):c.5739+8T>C
|
rs1321625981
|
0.00001
|
NM_004006.3(DMD):c.5923-7A>G
|
rs769161854
|
0.00001
|
NM_004006.3(DMD):c.5986G>A (p.Val1996Met)
|
rs2097556758
|
0.00001
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)
|
rs140791274
|
0.00001
|
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln)
|
rs756696562
|
0.00001
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
NC_000023.10:g.(31144791_31152218)_(31152312_31164407)dup
|
|
|
NC_000023.10:g.(31144791_31152218)_(31165636_31187559)dup
|
|
|
NC_000023.10:g.(31165636_31187559)_(31187719_31190464)dup
|
|
|
NC_000023.10:g.(31165636_31187559)_(31196088_31196785)dup
|
|
|
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)del
|
|
|
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)dup
|
|
|
NC_000023.10:g.(31196923_31198486)_(31198599_31200854)dup
|
|
|
NC_000023.10:g.(31201022_31222077)_(31222236_31224698)dup
|
|
|
NC_000023.10:g.(31241239_31279071)_(31462745_31496222)dup
|
|
|
NC_000023.10:g.(31241239_31279071)_(31792310_31838091)dup
|
|
|
NC_000023.10:g.(31279134_31341714)_(31341776_31366672)dup
|
|
|
NC_000023.10:g.(31279134_31341714)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31497221_31514904)del
|
|
|
NC_000023.10:g.(31366752_31462597)_(31525571_31645789)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31838201_31854834)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31462745_31496222)_(31525571_31645789)dup
|
|
|
NC_000023.10:g.(31496492_31497099)_(31854937_31893304)del
|
|
|
NC_000023.10:g.(31525571_31645789)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(31838201_31854834)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(31854937_31893304)del
|
|
|
NC_000023.10:g.(31525571_31645789)_(31893491_31947712)del
|
|
|
NC_000023.10:g.(31525571_31645789)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(32383317_32398626)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(31645980_31676106)_(31747866_31792076)del
|
|
|
NC_000023.10:g.(31645980_31676106)_(31950345_31986455)del
|
|
|
NC_000023.10:g.(31645980_31676106)_(31986632_32235032)del
|
|
|
NC_000023.10:g.(31676262_31697491)_(31854937_31893304)del
|
|
|
NC_000023.10:g.(31676262_31697491)_(31986632_32235032)del
|
|
|
NC_000023.10:g.(31676262_31697491)_(32305819_32328198)dup
|
|
|
NC_000023.10:g.(31697704_31747747)_(31747866_31792076)del
|
|
|
NC_000023.10:g.(31697704_31747747)_(31854937_31893304)del
|
|
|
NC_000023.10:g.(31697704_31747747)_(31893491_31947712)del
|
|
|
NC_000023.10:g.(31697704_31747747)_(31986632_32235032)del
|
|
|
NC_000023.10:g.(31747866_31792076)_(31947863_31950196)del
|
|
|
NC_000023.10:g.(31747866_31792076)_(31950345_31986455)del
|
|
|
NC_000023.10:g.(31747866_31792076)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31747866_31792076)_(32430031_32456357)del
|
|
|
NC_000023.10:g.(31792310_31838091)_(31854937_31893304)dup
|
|
|
NC_000023.10:g.(31792310_31838091)_(31893491_31947712)del
|
|
|
NC_000023.10:g.(31792310_31838091)_(31947863_31950196)del
|
|
|
NC_000023.10:g.(31792310_31838091)_(31986632_32235032)del
|
|
|
NC_000023.10:g.(31792310_31838091)_(32490427_32503035)dup
|
|
|
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)del
|
|
|
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)dup
|
|
|
NC_000023.10:g.(31838201_31854834)_(31950345_31986455)dup
|
|
|
NC_000023.10:g.(31838201_31854834)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31854937_31893304)_(31950345_31986455)del
|
|
|
NC_000023.10:g.(31854937_31893304)_(31986632_32235032)del
|
|
|
NC_000023.10:g.(31854937_31893304)_(32235181_32305645)dup
|
|
|
NC_000023.10:g.(31854937_31893304)_(32305819_32328198)del
|
|
|
NC_000023.10:g.(31893491_31947712)_(31950345_31986455)del
|
|
|
NC_000023.10:g.(31947863_31950196)_(31950345_31986455)dup
|
|
|
NC_000023.10:g.(31986632_32235032)_(32383317_32398626)del
|
|
|
NC_000023.10:g.(31986632_32235032)_(32519960_32536124)dup
|
|
|
NC_000023.10:g.(32235181_32305645)_(32305819_32328198)dup
|
|
|
NC_000023.10:g.(32235181_32305645)_(32490427_32503035)del
|
|
|
NC_000023.10:g.(32235181_32305645)_(32563452_32583818)dup
|
|
|
NC_000023.10:g.(32305819_32328198)_(32328394_32360216)dup
|
|
|
NC_000023.10:g.(32305819_32328198)_(32364198_32366522)del
|
|
|
NC_000023.10:g.(32328394_32360216)_(32360400_32361250)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)del
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32398798_32404426)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32408299_32429868)del
|
|
|
NC_000023.10:g.(32328394_32360216)_(32536249_32563275)del
|
|
|
NC_000023.10:g.(32366646_32380904)_(32430031_32456357)dup
|
|
|
NC_000023.10:g.(32381076_32382698)_(32382828_32383136)dup
|
|
|
NC_000023.10:g.(32381076_32382698)_(32663270_32715986)del
|
|
|
NC_000023.10:g.(32382828_32383136)_(32383317_32398626)dup
|
|
|
NC_000023.10:g.(32383317_32398626)_(32398798_32404426)dup
|
|
|
NC_000023.10:g.(32398798_32404426)_(32717411_32827609)del
|
|
|
NC_000023.10:g.(32407792_32408187)_(32408299_32429868)dup
|
|
|
NC_000023.10:g.(32408299_32429868)_(32563452_32583818)dup
|
|
|
NC_000023.10:g.(32408299_32429868)_(32827729_32834584)dup
|
|
|
NC_000023.10:g.(32408299_32429868)_(33038318_33229398)del
|
|
|
NC_000023.10:g.(32430031_32456357)_(32519960_32536124)del
|
|
|
NC_000023.10:g.(32430031_32456357)_(32563452_32583818)del
|
|
|
NC_000023.10:g.(32456508_32459296)_(32459432_32466572)dup
|
|
|
NC_000023.10:g.(32459432_32466572)_(32503217_32509393)del
|
|
|
NC_000023.10:g.(32459432_32466572)_(32663270_32715986)dup
|
|
|
NC_000023.10:g.(32466756_32472778)_(32472950_32481555)dup
|
|
|
NC_000023.10:g.(32486828_32490280)_(32490427_32503035)dup
|
|
|
NC_000023.10:g.(32509636_32519871)_(32717411_32827609)del
|
|
|
NC_000023.10:g.(32519960_32536124)_(32862978_32867844)del
|
|
|
NC_000023.10:g.(32519960_32536124)_(33229674_?)del
|
|
|
NC_000023.10:g.(32536249_32563275)_(32563452_32583818)dup
|
|
|
NC_000023.10:g.(32536249_32563275)_(32834758_32841411)del
|
|
|
NC_000023.10:g.(32563452_32583818)_(32613994_32632419)dup
|
|
|
NC_000023.10:g.(32591964_32613873)_(32613994_32632419)dup
|
|
|
NC_000023.10:g.(32591964_32613873)_(32632571_32662248)dup
|
|
|
NC_000023.10:g.(32613994_32632419)_(32632571_32662248)dup
|
|
|
NC_000023.10:g.(32613994_32632419)_(32663270_32715986)dup
|
|
|
NC_000023.10:g.(32632571_32662248)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(32663270_32715986)_(32716116_32717228)del
|
|
|
NC_000023.10:g.(32663270_32715986)_(32717411_32827609)del
|
|
|
NC_000023.10:g.(32663270_32715986)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(32717411_32827609)_(32827729_32834584)dup
|
|
|
NC_000023.10:g.(32717411_32827609)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(32717411_32827609)_(33229674_?)dup
|
|
|
NC_000023.10:g.(32827729_32834584)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(32834758_32841411)_(33038318_33229398)del
|
|
|
NC_000023.10:g.(32841505_32862899)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(32862978_32867844)_(32867938_33038255)dup
|
|
|
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)del
|
|
|
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)dup
|
|
|
NC_000023.10:g.(32867938_33038255)_(33229674_?)dup
|
|
|
NC_000023.10:g.(33038318_33229398)_(33229674_?)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31152312_31164407)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31191722_31196048)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31241239_31279071)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31279134_31341714)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31341776_31366672)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31497221_31514904)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31645980_31676106)dup
|
|
|
NC_000023.11:g.(31147519_31169442)_(31658145_31679374)dup
|
|
|
NC_000023.11:g.(31496945_31507280)_(31507454_31627672)del
|
|
|
NC_000023.11:g.(31507454_31627672)_(31729749_31773959)del
|
|
|
NC_000023.11:g.(31507454_31627672)_(31968515_32216915)del
|
|
|
NC_000023.11:g.(31627863_31657989)_(31836820_31875187)del
|
|
|
NC_000023.11:g.(31679587_31729630)_(31774193_31819974)del
|
|
|
NC_000023.11:g.(31679587_31729630)_(31968515_32216915)dup
|
|
|
NC_000023.11:g.(31729749_31773959)_(31774193_31819974)del
|
|
|
NC_000023.11:g.(31729749_31773959)_(31836820_31875187)del
|
|
|
NC_000023.11:g.(31729749_31773959)_(31875374_31929595)del
|
|
|
NC_000023.11:g.(31729749_31773959)_(31968515_32216915)del
|
|
|
NC_000023.11:g.(31774193_31819974)_(31820084_31836717)del
|
|
|
NC_000023.11:g.(31774193_31819974)_(31836820_31875187)del
|
|
|
NC_000023.11:g.(31820084_31836717)_(31836820_31875187)del
|
|
|
NC_000023.11:g.(31836820_31875187)_(31875374_31929595)del
|
|
|
NC_000023.11:g.(31875374_31929595)_(31929746_31932079)del
|
|
|
NC_000023.11:g.(31875374_31929595)_(31968515_32216915)del
|
|
|
NC_000023.11:g.(31932228_31968338)_(32699294_32809492)del
|
|
|
NC_000023.11:g.(31968515_32216915)_(32217064_32287528)del
|
|
|
NC_000023.11:g.(32217064_32287528)_(32310277_32342099)del
|
|
|
NC_000023.11:g.(32491519_32501754)_(32573847_32595756)del
|
|
|
NC_000023.11:g.(32614454_32644131)_(32645153_32697869)del
|
|
|
NC_000023.11:g.(?_31119227)_(31348635_31444480)dup
|
|
|
NM_004006.2:c.(1992+1_1993-1)_(4233+1_4234-1)[3]
|
|
|
NM_004006.2:c.(6438+1_6439-1)_(6614+1_6615-1)del
|
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.-164_-132del
|
|
|
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
|
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
NM_004006.3(DMD):c.10224-2_10233delinsTG
|
rs2148280427
|
|
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
|
rs376745644
|
|
NM_004006.3(DMD):c.10728_10731inv (p.Met3576_Gln3577delinsIleCys)
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.1267C>T (p.Gln423Ter)
|
rs2146819649
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
NM_004006.3(DMD):c.1713dup (p.Ser572Ter)
|
rs1601808932
|
|
NM_004006.3(DMD):c.1869C>T (p.Leu623=)
|
rs1800267
|
|
NM_004006.3(DMD):c.187-10_187-6del
|
rs1557079581
|
|
NM_004006.3(DMD):c.1956del (p.Asp652fs)
|
rs886043640
|
|
NM_004006.3(DMD):c.2168+2T>C
|
|
|
NM_004006.3(DMD):c.2381A>G (p.Glu794Gly)
|
|
|
NM_004006.3(DMD):c.2512C>T (p.Gln838Ter)
|
rs886042351
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn)
|
rs2148630194
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)
|
rs1060502639
|
|
NM_004006.3(DMD):c.2804-2A>C
|
rs794727357
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
NM_004006.3(DMD):c.3037G>T (p.Glu1013Ter)
|
|
|
NM_004006.3(DMD):c.31+8C>T
|
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
NM_004006.3(DMD):c.3891C>A (p.Gly1297=)
|
rs758317261
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.3929A>C (p.Glu1310Ala)
|
rs2148194722
|
|
NM_004006.3(DMD):c.3939_3940delinsCT (p.Met1313_Arg1314delinsIleTer)
|
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.4296G>C (p.Gln1432His)
|
rs747262903
|
|
NM_004006.3(DMD):c.4351_4352insA (p.Leu1451fs)
|
rs2097987198
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
NM_004006.3(DMD):c.4500del (p.Gln1501fs)
|
rs398123959
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.4846-1G>C
|
rs1603631757
|
|
NM_004006.3(DMD):c.4942T>C (p.Leu1648=)
|
rs138472027
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.5008_5025+7del
|
|
|
NM_004006.3(DMD):c.5068_5070del (p.His1690del)
|
rs761764494
|
|
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs)
|
rs2147253222
|
|
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala)
|
rs2097842153
|
|
NM_004006.3(DMD):c.5428G>T (p.Glu1810Ter)
|
|
|
NM_004006.3(DMD):c.5448+1G>T
|
rs1064796764
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
NM_004006.3(DMD):c.549del (p.Asp182_Trp183insTer)
|
|
|
NM_004006.3(DMD):c.5771_5772del (p.Glu1924fs)
|
|
|
NM_004006.3(DMD):c.5884A>C (p.Lys1962Gln)
|
rs2097746777
|
|
NM_004006.3(DMD):c.5922+3G>C
|
rs398124000
|
|
NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter)
|
rs1557218131
|
|
NM_004006.3(DMD):c.6474del (p.Val2159fs)
|
rs2095370524
|
|
NM_004006.3(DMD):c.6652A>G (p.Arg2218Gly)
|
rs2094863769
|
|
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter)
|
rs2094828872
|
|
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)
|
rs770183212
|
|
NM_004006.3(DMD):c.7395del (p.Met2466fs)
|
rs2149245252
|
|
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)
|
rs1569186252
|
|
NM_004006.3(DMD):c.8027+19C>A
|
rs1202693482
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
NM_004006.3(DMD):c.832-18_832-17delinsGA
|
rs2063783358
|
|
NM_004006.3(DMD):c.8333G>A (p.Arg2778His)
|
rs2071050854
|
|
NM_004006.3(DMD):c.8391-305A>T
|
|
|
NM_004006.3(DMD):c.8582T>A (p.Val2861Glu)
|
|
|
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
|
rs2068038543
|
|
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
|
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
NM_004006.3(DMD):c.9137G>A (p.Gly3046Asp)
|
rs2148491931
|
|
NM_004006.3(DMD):c.9184del (p.Glu3062fs)
|
rs2148297268
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004006.3(DMD):c.9461T>A (p.Leu3154Ter)
|
rs2044442536
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
NM_004017.3(DMD):c.1019+700_1019+704del
|
rs2148280593
|
|