NM_004006.3(DMD):c.2645= (p.Asp882=)
|
rs228406
|
0.99999
|
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)
|
rs1800280
|
0.95243
|
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.2645A>G (p.Asp882Gly)
|
rs228406
|
0.69509
|
NM_004006.3(DMD):c.5234G>A (p.Arg1745His)
|
rs1801187
|
0.36912
|
NM_004006.3(DMD):c.1603-8765A>C
|
rs808564
|
0.36654
|
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.7096A>C (p.Lys2366Gln)
|
rs1800275
|
0.21153
|
NM_004006.3(DMD):c.7728T>C (p.Asn2576=)
|
rs1801188
|
0.15883
|
NM_004006.3(DMD):c.650-39575A>C
|
rs113593006
|
0.14980
|
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.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.832-17C>A
|
rs72470514
|
0.01678
|
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.3603+8A>G
|
rs193249735
|
0.00743
|
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.3432+2036A>C
|
rs182575709
|
0.00580
|
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.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_004006.3(DMD):c.1483-7C>G
|
rs112463388
|
0.00162
|
NM_004006.3(DMD):c.8571T>C (p.Thr2857=)
|
rs72466570
|
0.00153
|
NM_004006.3(DMD):c.2293-15G>C
|
rs369384547
|
0.00149
|
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.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_004006.3(DMD):c.3604-12T>A
|
rs183613970
|
0.00123
|
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.2745A>C (p.Thr915=)
|
rs149922633
|
0.00113
|
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)
|
rs147927593
|
0.00113
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
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.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004006.3(DMD):c.4125T>C (p.Thr1375=)
|
rs144329742
|
0.00069
|
NM_004006.3(DMD):c.1812C>T (p.Ala604=)
|
rs140919039
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_004006.3(DMD):c.2199C>T (p.Ser733=)
|
rs149882431
|
0.00064
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn)
|
rs138399787
|
0.00063
|
NM_004006.3(DMD):c.1028G>A (p.Arg343His)
|
rs61733589
|
0.00062
|
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)
|
rs139365076
|
0.00056
|
NM_004006.3(DMD):c.5487A>G (p.Gln1829=)
|
rs150787752
|
0.00055
|
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu)
|
rs144732570
|
0.00054
|
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)
|
rs147904018
|
0.00054
|
NM_004006.3(DMD):c.832-20C>T
|
rs201026834
|
0.00052
|
NM_004006.3(DMD):c.2381-3T>C
|
rs147931243
|
0.00048
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)
|
rs139395045
|
0.00045
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_004006.3(DMD):c.6732G>C (p.Gln2244His)
|
rs142531761
|
0.00043
|
NM_004006.3(DMD):c.2824A>G (p.Met942Val)
|
rs371648742
|
0.00042
|
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.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.7321A>C (p.Thr2441Pro)
|
rs146817002
|
0.00035
|
NM_004006.3(DMD):c.9564-5A>G
|
rs201390145
|
0.00035
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
NM_004006.3(DMD):c.10836C>T (p.Ser3612=)
|
rs148590546
|
0.00033
|
NM_004006.3(DMD):c.8824G>T (p.Ala2942Ser)
|
rs755127162
|
0.00033
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
NM_004006.3(DMD):c.94-9T>A
|
rs3764764
|
0.00032
|
NM_004006.3(DMD):c.5586+18A>G
|
rs189522063
|
0.00031
|
NM_004006.3(DMD):c.2380+10C>T
|
rs372330460
|
0.00027
|
NM_004006.3(DMD):c.8027+18T>C
|
rs376417532
|
0.00027
|
NM_004006.3(DMD):c.9804A>G (p.Gln3268=)
|
rs12690372
|
0.00027
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_004006.3(DMD):c.1575A>G (p.Ala525=)
|
rs144372300
|
0.00026
|
NM_004006.3(DMD):c.3433G>C (p.Val1145Leu)
|
rs767442827
|
0.00026
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_004006.3(DMD):c.2884C>G (p.Leu962Val)
|
rs150959827
|
0.00024
|
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)
|
rs367702968
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_004006.3(DMD):c.1337A>G (p.His446Arg)
|
rs72468699
|
0.00023
|
NM_004006.3(DMD):c.2386G>A (p.Val796Ile)
|
rs139726281
|
0.00023
|
NM_004006.3(DMD):c.696C>G (p.Ile232Met)
|
rs145668843
|
0.00023
|
NM_004006.3(DMD):c.7310-7A>G
|
rs373230021
|
0.00023
|
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)
|
rs377587957
|
0.00023
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_004006.3(DMD):c.9287-8C>T
|
rs371035624
|
0.00022
|
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.1666G>A (p.Asp556Asn)
|
rs182708940
|
0.00020
|
NM_004006.3(DMD):c.1809G>A (p.Leu603=)
|
rs192176661
|
0.00020
|
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.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004006.3(DMD):c.2166A>G (p.Lys722=)
|
rs147580966
|
0.00019
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00019
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00019
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)
|
rs202008454
|
0.00018
|
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)
|
rs199588981
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)
|
rs142133195
|
0.00017
|
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)
|
rs145181319
|
0.00017
|
NM_004006.3(DMD):c.1761A>G (p.Thr587=)
|
rs370103963
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg)
|
rs372600090
|
0.00016
|
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)
|
rs201691420
|
0.00016
|
NM_004006.3(DMD):c.1707C>T (p.Cys569=)
|
rs142029039
|
0.00015
|
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser)
|
rs187926894
|
0.00015
|
NM_004006.3(DMD):c.3077A>G (p.Glu1026Gly)
|
rs777817851
|
0.00015
|
NM_004006.3(DMD):c.32-14A>G
|
rs367757761
|
0.00015
|
NM_004006.3(DMD):c.5026-20T>A
|
rs745350754
|
0.00015
|
NM_004006.3(DMD):c.9286+13C>T
|
rs199982967
|
0.00015
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_004006.3(DMD):c.9649+8G>A
|
rs373703618
|
0.00015
|
NM_004006.3(DMD):c.1603-4C>A
|
rs377223643
|
0.00014
|
NM_004006.3(DMD):c.2260G>T (p.Gly754Cys)
|
rs369017141
|
0.00014
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004006.3(DMD):c.4605G>A (p.Thr1535=)
|
rs374871728
|
0.00014
|
NM_004006.3(DMD):c.4847C>G (p.Ala1616Gly)
|
rs370167370
|
0.00014
|
NM_004006.3(DMD):c.4876G>A (p.Val1626Met)
|
rs776998846
|
0.00014
|
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.7578G>A (p.Gln2526=)
|
rs142236825
|
0.00014
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00013
|
NM_004006.3(DMD):c.7201-15G>A
|
rs778184775
|
0.00013
|
NM_004006.3(DMD):c.7244G>A (p.Arg2415His)
|
rs373749120
|
0.00013
|
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)
|
rs764127932
|
0.00013
|
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)
|
rs144103124
|
0.00013
|
NM_004006.3(DMD):c.8027+7A>T
|
rs72466580
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala)
|
rs376720228
|
0.00013
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
NM_004006.3(DMD):c.9563+4C>T
|
rs753666498
|
0.00013
|
NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile)
|
rs139492098
|
0.00012
|
NM_004006.3(DMD):c.2352T>C (p.Ala784=)
|
rs142006072
|
0.00012
|
NM_004006.3(DMD):c.5325+1751A>C
|
rs1447328485
|
0.00012
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)
|
rs774722438
|
0.00012
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)
|
rs192004962
|
0.00011
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004006.3(DMD):c.8742G>A (p.Glu2914=)
|
rs372795781
|
0.00011
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)
|
rs374993642
|
0.00010
|
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)
|
rs200213555
|
0.00010
|
NM_004006.3(DMD):c.4877T>A (p.Val1626Glu)
|
rs72468634
|
0.00010
|
NM_004006.3(DMD):c.5026-7A>G
|
rs398123976
|
0.00010
|
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser)
|
rs146420425
|
0.00010
|
NM_004006.3(DMD):c.5154+14T>A
|
rs752125309
|
0.00010
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
NM_004006.3(DMD):c.6143G>A (p.Ser2048Asn)
|
rs200494003
|
0.00010
|
NM_004006.3(DMD):c.6414T>C (p.His2138=)
|
rs753999355
|
0.00010
|
NM_004006.3(DMD):c.6614+8G>A
|
rs377508818
|
0.00010
|
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)
|
rs201919981
|
0.00010
|
NM_004006.3(DMD):c.7596C>T (p.Thr2532=)
|
rs778412539
|
0.00010
|
NM_004006.3(DMD):c.8852G>A (p.Arg2951His)
|
rs72466567
|
0.00010
|
NM_004006.3(DMD):c.2557T>C (p.Leu853=)
|
rs150387101
|
0.00009
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
NM_004006.3(DMD):c.3270G>A (p.Gln1090=)
|
rs373475857
|
0.00009
|
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)
|
rs876657778
|
0.00009
|
NM_004006.3(DMD):c.4940C>T (p.Thr1647Met)
|
rs148868095
|
0.00009
|
NM_004006.3(DMD):c.5025+16A>G
|
rs757909242
|
0.00009
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00009
|
NM_004006.3(DMD):c.5400A>C (p.Glu1800Asp)
|
rs757290084
|
0.00009
|
NM_004006.3(DMD):c.6290+15T>C
|
rs376238798
|
0.00009
|
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)
|
rs1023328955
|
0.00009
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
NM_004006.3(DMD):c.8027+13T>G
|
rs772027445
|
0.00009
|
NM_004006.3(DMD):c.961-4del
|
rs759592382
|
0.00009
|
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)
|
rs146543659
|
0.00009
|
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)
|
rs373898385
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.2804-11T>C
|
rs766492772
|
0.00008
|
NM_004006.3(DMD):c.4091T>C (p.Leu1364Ser)
|
rs763829484
|
0.00008
|
NM_004006.3(DMD):c.5025+19A>T
|
rs368123206
|
0.00008
|
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)
|
rs369055628
|
0.00008
|
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)
|
rs141261536
|
0.00008
|
NM_004006.3(DMD):c.5700A>G (p.Leu1900=)
|
rs374387166
|
0.00008
|
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)
|
rs751145927
|
0.00008
|
NM_004006.3(DMD):c.733A>G (p.Ile245Val)
|
rs140510985
|
0.00008
|
NM_004006.3(DMD):c.7725G>A (p.Leu2575=)
|
rs754604466
|
0.00008
|
NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala)
|
rs773656507
|
0.00008
|
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)
|
rs146020545
|
0.00008
|
NM_004006.3(DMD):c.8766C>T (p.Ser2922=)
|
rs149776669
|
0.00008
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
NM_004006.3(DMD):c.8925C>T (p.Leu2975=)
|
rs374063420
|
0.00008
|
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)
|
rs368996545
|
0.00007
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00007
|
NM_004006.3(DMD):c.2060C>T (p.Thr687Met)
|
rs751543064
|
0.00007
|
NM_004006.3(DMD):c.2080A>T (p.Ile694Phe)
|
rs777042810
|
0.00007
|
NM_004006.3(DMD):c.265-15C>T
|
rs779680050
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.3450G>A (p.Glu1150=)
|
rs142967431
|
0.00007
|
NM_004006.3(DMD):c.3604-14T>C
|
rs370687867
|
0.00007
|
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)
|
rs750349613
|
0.00007
|
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)
|
rs755206033
|
0.00007
|
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)
|
rs377412251
|
0.00007
|
NM_004006.3(DMD):c.5177A>G (p.Asp1726Gly)
|
rs372917491
|
0.00007
|
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)
|
rs137898199
|
0.00007
|
NM_004006.3(DMD):c.6953C>T (p.Ala2318Val)
|
rs771215006
|
0.00007
|
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00007
|
NM_004006.3(DMD):c.8307C>T (p.Ser2769=)
|
rs958880486
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004006.3(DMD):c.8712A>G (p.Leu2904=)
|
rs764631900
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
NM_004006.3(DMD):c.938C>T (p.Thr313Ile)
|
rs201799335
|
0.00007
|
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)
|
rs181517869
|
0.00007
|
NM_004006.3(DMD):c.10087-15T>C
|
rs778559908
|
0.00006
|
NM_004006.3(DMD):c.10593C>T (p.His3531=)
|
rs753460206
|
0.00006
|
NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)
|
rs199981454
|
0.00006
|
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
NM_004006.3(DMD):c.1173C>T (p.Ala391=)
|
rs1057522737
|
0.00006
|
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)
|
rs148511512
|
0.00006
|
NM_004006.3(DMD):c.1824G>A (p.Ala608=)
|
rs151013182
|
0.00006
|
NM_004006.3(DMD):c.2209C>T (p.Arg737Cys)
|
rs762960280
|
0.00006
|
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)
|
rs139772014
|
0.00006
|
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)
|
rs146384458
|
0.00006
|
NM_004006.3(DMD):c.3405C>T (p.Asn1135=)
|
rs373182842
|
0.00006
|
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)
|
rs144667422
|
0.00006
|
NM_004006.3(DMD):c.43G>C (p.Asp15His)
|
rs876657780
|
0.00006
|
NM_004006.3(DMD):c.4533T>C (p.Ser1511=)
|
rs1446495967
|
0.00006
|
NM_004006.3(DMD):c.501G>T (p.Leu167=)
|
rs150239235
|
0.00006
|
NM_004006.3(DMD):c.5418T>C (p.Asn1806=)
|
rs149543306
|
0.00006
|
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)
|
rs144718274
|
0.00006
|
NM_004006.3(DMD):c.6117+15C>T
|
rs754718247
|
0.00006
|
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg)
|
rs762708936
|
0.00006
|
NM_004006.3(DMD):c.6912+12A>T
|
rs370001798
|
0.00006
|
NM_004006.3(DMD):c.7024C>T (p.Leu2342=)
|
rs749996618
|
0.00006
|
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)
|
rs367747168
|
0.00006
|
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)
|
rs1057519106
|
0.00006
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
NM_004006.3(DMD):c.832-16A>G
|
rs781402243
|
0.00006
|
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)
|
rs398124071
|
0.00006
|
NM_004006.3(DMD):c.9287-11C>T
|
rs192593321
|
0.00006
|
NM_004006.3(DMD):c.10087-17C>T
|
rs745874317
|
0.00005
|
NM_004006.3(DMD):c.10224T>A (p.Thr3408=)
|
rs774389538
|
0.00005
|
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile)
|
rs751030250
|
0.00005
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
NM_004006.3(DMD):c.10577G>A (p.Arg3526His)
|
rs139547504
|
0.00005
|
NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)
|
rs766716563
|
0.00005
|
NM_004006.3(DMD):c.1383T>C (p.Asn461=)
|
rs373729675
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.146G>A (p.Arg49His)
|
rs765584669
|
0.00005
|
NM_004006.3(DMD):c.1654G>T (p.Val552Phe)
|
rs748690103
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.1688G>A (p.Arg563His)
|
rs191197223
|
0.00005
|
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)
|
rs587782936
|
0.00005
|
NM_004006.3(DMD):c.2110C>T (p.Pro704Ser)
|
rs1060502638
|
0.00005
|
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)
|
rs771803281
|
0.00005
|
NM_004006.3(DMD):c.2296A>G (p.Ile766Val)
|
rs372490563
|
0.00005
|
NM_004006.3(DMD):c.2362G>T (p.Val788Leu)
|
rs756267575
|
0.00005
|
NM_004006.3(DMD):c.244C>T (p.Arg82Trp)
|
rs772546251
|
0.00005
|
NM_004006.3(DMD):c.254A>G (p.Gln85Arg)
|
rs1297662991
|
0.00005
|
NM_004006.3(DMD):c.2607G>C (p.Gln869His)
|
rs398123898
|
0.00005
|
NM_004006.3(DMD):c.2612A>C (p.Lys871Thr)
|
rs398123899
|
0.00005
|
NM_004006.3(DMD):c.2667A>T (p.Arg889=)
|
rs759593799
|
0.00005
|
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)
|
rs199808421
|
0.00005
|
NM_004006.3(DMD):c.3191T>C (p.Met1064Thr)
|
rs140106769
|
0.00005
|
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)
|
rs747239076
|
0.00005
|
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)
|
rs191164314
|
0.00005
|
NM_004006.3(DMD):c.3419A>T (p.His1140Leu)
|
rs201297190
|
0.00005
|
NM_004006.3(DMD):c.3432+8C>A
|
rs781003275
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)
|
rs766977775
|
0.00005
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
NM_004006.3(DMD):c.4456C>T (p.Pro1486Ser)
|
rs762125605
|
0.00005
|
NM_004006.3(DMD):c.4561A>G (p.Met1521Val)
|
rs757350813
|
0.00005
|
NM_004006.3(DMD):c.4845+17T>C
|
rs200084661
|
0.00005
|
NM_004006.3(DMD):c.4845+4A>T
|
rs368357171
|
0.00005
|
NM_004006.3(DMD):c.4929C>G (p.Gly1643=)
|
rs369670845
|
0.00005
|
NM_004006.3(DMD):c.5013A>G (p.Leu1671=)
|
rs747877998
|
0.00005
|
NM_004006.3(DMD):c.5204G>A (p.Arg1735His)
|
rs757412063
|
0.00005
|
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr)
|
rs201516290
|
0.00005
|
NM_004006.3(DMD):c.5280C>T (p.Leu1760=)
|
rs776420984
|
0.00005
|
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)
|
rs398123982
|
0.00005
|
NM_004006.3(DMD):c.603C>T (p.Asn201=)
|
rs750180929
|
0.00005
|
NM_004006.3(DMD):c.6101A>T (p.Gln2034Leu)
|
rs144754029
|
0.00005
|
NM_004006.3(DMD):c.6132T>C (p.Ser2044=)
|
rs761338933
|
0.00005
|
NM_004006.3(DMD):c.6291-20C>G
|
rs776983141
|
0.00005
|
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)
|
rs727503815
|
0.00005
|
NM_004006.3(DMD):c.6614+5G>A
|
rs1286238077
|
0.00005
|
NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile)
|
rs758654750
|
0.00005
|
NM_004006.3(DMD):c.6854C>T (p.Pro2285Leu)
|
rs1438782223
|
0.00005
|
NM_004006.3(DMD):c.6912+8A>G
|
rs1296209292
|
0.00005
|
NM_004006.3(DMD):c.7131G>A (p.Pro2377=)
|
rs917627111
|
0.00005
|
NM_004006.3(DMD):c.7450G>A (p.Asp2484Asn)
|
rs773102625
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)
|
rs371588290
|
0.00005
|
NM_004006.3(DMD):c.7781A>G (p.Gln2594Arg)
|
rs777178221
|
0.00005
|
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)
|
rs754997935
|
0.00005
|
NM_004006.3(DMD):c.8052G>A (p.Leu2684=)
|
rs770490376
|
0.00005
|
NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly)
|
rs751599201
|
0.00005
|
NM_004006.3(DMD):c.8159G>A (p.Arg2720His)
|
rs760495223
|
0.00005
|
NM_004006.3(DMD):c.831+12A>G
|
rs1277972297
|
0.00005
|
NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg)
|
rs750419527
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004006.3(DMD):c.8390+18G>A
|
rs756363477
|
0.00005
|
NM_004006.3(DMD):c.8425C>T (p.Arg2809Cys)
|
rs143389016
|
0.00005
|
NM_004006.3(DMD):c.8426G>A (p.Arg2809His)
|
rs778331600
|
0.00005
|
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)
|
rs373481995
|
0.00005
|
NM_004006.3(DMD):c.8718G>A (p.Lys2906=)
|
rs377178242
|
0.00005
|
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)
|
rs760516307
|
0.00005
|
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)
|
rs371648038
|
0.00005
|
NM_004006.3(DMD):c.923C>A (p.Thr308Asn)
|
rs145064612
|
0.00005
|
NM_004006.3(DMD):c.940C>T (p.Arg314Trp)
|
rs764526102
|
0.00005
|
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)
|
rs185247491
|
0.00005
|
NM_004006.3(DMD):c.9716A>G (p.His3239Arg)
|
rs765865134
|
0.00005
|
NM_004006.3(DMD):c.10086+11C>T
|
rs372337129
|
0.00004
|
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)
|
rs755438733
|
0.00004
|
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)
|
rs777510517
|
0.00004
|
NM_004006.3(DMD):c.10576C>T (p.Arg3526Cys)
|
rs905145891
|
0.00004
|
NM_004006.3(DMD):c.10592A>G (p.His3531Arg)
|
rs886043324
|
0.00004
|
NM_004006.3(DMD):c.1083A>G (p.Thr361=)
|
rs767325921
|
0.00004
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
NM_004006.3(DMD):c.1309G>C (p.Ala437Pro)
|
rs748964279
|
0.00004
|
NM_004006.3(DMD):c.1503A>G (p.Glu501=)
|
rs770464589
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.1534C>T (p.His512Tyr)
|
rs147136371
|
0.00004
|
NM_004006.3(DMD):c.1602+13T>A
|
rs772364333
|
0.00004
|
NM_004006.3(DMD):c.1603-6C>T
|
rs774626474
|
0.00004
|
NM_004006.3(DMD):c.1742C>T (p.Ala581Val)
|
rs763155705
|
0.00004
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
NM_004006.3(DMD):c.1897A>G (p.Asn633Asp)
|
rs757047592
|
0.00004
|
NM_004006.3(DMD):c.1924G>A (p.Ala642Thr)
|
rs779138399
|
0.00004
|
NM_004006.3(DMD):c.2061G>T (p.Thr687=)
|
rs1057523030
|
0.00004
|
NM_004006.3(DMD):c.2076A>G (p.Glu692=)
|
rs764950114
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp)
|
rs373475448
|
0.00004
|
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)
|
rs747802164
|
0.00004
|
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser)
|
rs150692967
|
0.00004
|
NM_004006.3(DMD):c.2622+9C>G
|
rs375399258
|
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.265-10T>C
|
rs776542400
|
0.00004
|
NM_004006.3(DMD):c.2804T>G (p.Ile935Ser)
|
rs190247714
|
0.00004
|
NM_004006.3(DMD):c.2985C>T (p.Gly995=)
|
rs771884775
|
0.00004
|
NM_004006.3(DMD):c.3162+5T>C
|
rs779431450
|
0.00004
|
NM_004006.3(DMD):c.3173A>G (p.Gln1058Arg)
|
rs762258174
|
0.00004
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
NM_004006.3(DMD):c.3713A>G (p.Lys1238Arg)
|
rs150333718
|
0.00004
|
NM_004006.3(DMD):c.3727C>T (p.Leu1243=)
|
rs374715206
|
0.00004
|
NM_004006.3(DMD):c.3921+15A>G
|
rs564942248
|
0.00004
|
NM_004006.3(DMD):c.3941G>A (p.Arg1314Gln)
|
rs752767880
|
0.00004
|
NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg)
|
rs146880270
|
0.00004
|
NM_004006.3(DMD):c.4205A>G (p.Asp1402Gly)
|
rs377043643
|
0.00004
|
NM_004006.3(DMD):c.4234-12T>C
|
rs757851097
|
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.4467A>C (p.Glu1489Asp)
|
rs373162382
|
0.00004
|
NM_004006.3(DMD):c.4845+10A>G
|
rs199958675
|
0.00004
|
NM_004006.3(DMD):c.4998A>T (p.Arg1666=)
|
rs1481796319
|
0.00004
|
NM_004006.3(DMD):c.5104T>C (p.Leu1702=)
|
rs750664323
|
0.00004
|
NM_004006.3(DMD):c.5109T>C (p.Asp1703=)
|
rs141086798
|
0.00004
|
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)
|
rs144717862
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.5587-13G>A
|
rs374560628
|
0.00004
|
NM_004006.3(DMD):c.5684A>T (p.Asp1895Val)
|
rs376202643
|
0.00004
|
NM_004006.3(DMD):c.5900G>A (p.Arg1967Gln)
|
rs750268924
|
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.618A>G (p.Gln206=)
|
rs727503865
|
0.00004
|
NM_004006.3(DMD):c.6358C>T (p.Leu2120=)
|
rs780793569
|
0.00004
|
NM_004006.3(DMD):c.6545A>G (p.Gln2182Arg)
|
rs749804804
|
0.00004
|
NM_004006.3(DMD):c.6639G>A (p.Leu2213=)
|
rs1414566832
|
0.00004
|
NM_004006.3(DMD):c.6665A>C (p.Glu2222Ala)
|
rs1180468756
|
0.00004
|
NM_004006.3(DMD):c.6900C>T (p.Leu2300=)
|
rs200493074
|
0.00004
|
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)
|
rs201262489
|
0.00004
|
NM_004006.3(DMD):c.7404G>A (p.Glu2468=)
|
rs1454627836
|
0.00004
|
NM_004006.3(DMD):c.8390+20A>C
|
rs779812236
|
0.00004
|
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)
|
rs181284440
|
0.00004
|
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)
|
rs142128738
|
0.00004
|
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)
|
rs143426249
|
0.00004
|
NM_004006.3(DMD):c.9094G>A (p.Glu3032Lys)
|
rs72466562
|
0.00004
|
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)
|
rs753594128
|
0.00004
|
NM_004006.3(DMD):c.9563C>T (p.Thr3188Met)
|
rs1026613996
|
0.00004
|
NM_004006.3(DMD):c.9987A>G (p.Leu3329=)
|
rs145595228
|
0.00004
|
NM_004006.3(DMD):c.1014A>G (p.Glu338=)
|
rs758035070
|
0.00003
|
NM_004006.3(DMD):c.10203A>G (p.Leu3401=)
|
rs371928525
|
0.00003
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.1059G>A (p.Ser353=)
|
rs760621626
|
0.00003
|
NM_004006.3(DMD):c.10661G>A (p.Arg3554Gln)
|
rs199974153
|
0.00003
|
NM_004006.3(DMD):c.10797+20T>A
|
rs192226304
|
0.00003
|
NM_004006.3(DMD):c.10815A>C (p.Lys3605Asn)
|
rs764516612
|
0.00003
|
NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn)
|
rs766599250
|
0.00003
|
NM_004006.3(DMD):c.10955C>G (p.Thr3652Arg)
|
rs1131691998
|
0.00003
|
NM_004006.3(DMD):c.11046+11T>C
|
rs754992621
|
0.00003
|
NM_004006.3(DMD):c.1183C>T (p.Arg395Trp)
|
rs780356433
|
0.00003
|
NM_004006.3(DMD):c.1220T>C (p.Ile407Thr)
|
rs200637510
|
0.00003
|
NM_004006.3(DMD):c.1332-11C>T
|
rs370927319
|
0.00003
|
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)
|
rs758932385
|
0.00003
|
NM_004006.3(DMD):c.1472A>G (p.Gln491Arg)
|
rs753993504
|
0.00003
|
NM_004006.3(DMD):c.1482+7G>T
|
rs766338928
|
0.00003
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
NM_004006.3(DMD):c.1704+20C>T
|
rs762285101
|
0.00003
|
NM_004006.3(DMD):c.1704+9T>C
|
rs765811715
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004006.3(DMD):c.1813-3C>A
|
rs181399181
|
0.00003
|
NM_004006.3(DMD):c.1919C>T (p.Thr640Met)
|
rs183677010
|
0.00003
|
NM_004006.3(DMD):c.1988C>T (p.Ala663Val)
|
rs41309715
|
0.00003
|
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)
|
rs762475657
|
0.00003
|
NM_004006.3(DMD):c.2102A>C (p.Glu701Ala)
|
rs772229363
|
0.00003
|
NM_004006.3(DMD):c.2169-17A>C
|
rs374885558
|
0.00003
|
NM_004006.3(DMD):c.2247C>A (p.Ile749=)
|
rs745778664
|
0.00003
|
NM_004006.3(DMD):c.2249T>C (p.Phe750Ser)
|
rs377539940
|
0.00003
|
NM_004006.3(DMD):c.2292+9T>C
|
rs766804291
|
0.00003
|
NM_004006.3(DMD):c.2293-8T>C
|
rs377050013
|
0.00003
|
NM_004006.3(DMD):c.2323A>G (p.Arg775Gly)
|
rs886038905
|
0.00003
|
NM_004006.3(DMD):c.2368C>G (p.Gln790Glu)
|
rs762860653
|
0.00003
|
NM_004006.3(DMD):c.2424G>C (p.Leu808=)
|
rs748257989
|
0.00003
|
NM_004006.3(DMD):c.2458A>C (p.Ser820Arg)
|
rs751873846
|
0.00003
|
NM_004006.3(DMD):c.2518C>G (p.Gln840Glu)
|
rs398123892
|
0.00003
|
NM_004006.3(DMD):c.2579C>T (p.Pro860Leu)
|
rs754502808
|
0.00003
|
NM_004006.3(DMD):c.264+16G>C
|
rs370983176
|
0.00003
|
NM_004006.3(DMD):c.2780C>T (p.Ala927Val)
|
rs41312094
|
0.00003
|
NM_004006.3(DMD):c.2912A>T (p.Asp971Val)
|
rs762154042
|
0.00003
|
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro)
|
rs766325631
|
0.00003
|
NM_004006.3(DMD):c.3051A>G (p.Lys1017=)
|
rs747263406
|
0.00003
|
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)
|
rs770148717
|
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.3175A>G (p.Thr1059Ala)
|
rs763548540
|
0.00003
|
NM_004006.3(DMD):c.3177C>T (p.Thr1059=)
|
rs755632126
|
0.00003
|
NM_004006.3(DMD):c.3182A>G (p.Lys1061Arg)
|
rs190014284
|
0.00003
|
NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr)
|
rs748123444
|
0.00003
|
NM_004006.3(DMD):c.3419A>G (p.His1140Arg)
|
rs201297190
|
0.00003
|
NM_004006.3(DMD):c.358-17T>C
|
rs771742066
|
0.00003
|
NM_004006.3(DMD):c.358-7C>T
|
rs192050146
|
0.00003
|
NM_004006.3(DMD):c.3636G>A (p.Ala1212=)
|
rs769510089
|
0.00003
|
NM_004006.3(DMD):c.3719T>G (p.Leu1240Arg)
|
rs769030725
|
0.00003
|
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)
|
rs746405191
|
0.00003
|
NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys)
|
rs941573844
|
0.00003
|
NM_004006.3(DMD):c.3921+12A>G
|
rs760373690
|
0.00003
|
NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe)
|
rs187617705
|
0.00003
|
NM_004006.3(DMD):c.4046C>G (p.Ser1349Cys)
|
rs763514033
|
0.00003
|
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)
|
rs750981128
|
0.00003
|
NM_004006.3(DMD):c.404A>G (p.Asn135Ser)
|
rs764808552
|
0.00003
|
NM_004006.3(DMD):c.4094T>C (p.Leu1365Pro)
|
rs752699296
|
0.00003
|
NM_004006.3(DMD):c.4234-14T>G
|
rs372814046
|
0.00003
|
NM_004006.3(DMD):c.4283A>G (p.Lys1428Arg)
|
rs371585389
|
0.00003
|
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr)
|
rs777274879
|
0.00003
|
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr)
|
rs398123956
|
0.00003
|
NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu)
|
rs748769566
|
0.00003
|
NM_004006.3(DMD):c.4563G>A (p.Met1521Ile)
|
rs138984555
|
0.00003
|
NM_004006.3(DMD):c.4684A>G (p.Arg1562Gly)
|
rs771425504
|
0.00003
|
NM_004006.3(DMD):c.4908G>A (p.Glu1636=)
|
rs143538389
|
0.00003
|
NM_004006.3(DMD):c.4924T>A (p.Leu1642Met)
|
rs376720373
|
0.00003
|
NM_004006.3(DMD):c.5155-12C>T
|
rs377134035
|
0.00003
|
NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)
|
rs376234802
|
0.00003
|
NM_004006.3(DMD):c.5405A>G (p.Gln1802Arg)
|
rs893536407
|
0.00003
|
NM_004006.3(DMD):c.5529G>A (p.Lys1843=)
|
rs780778975
|
0.00003
|
NM_004006.3(DMD):c.5530C>A (p.Arg1844=)
|
rs1064325
|
0.00003
|
NM_004006.3(DMD):c.5544G>T (p.Lys1848Asn)
|
rs369623931
|
0.00003
|
NM_004006.3(DMD):c.5586+17T>A
|
rs749060387
|
0.00003
|
NM_004006.3(DMD):c.5587-8A>C
|
rs1287724254
|
0.00003
|
NM_004006.3(DMD):c.5615C>A (p.Ala1872Asp)
|
rs200246327
|
0.00003
|
NM_004006.3(DMD):c.5677T>C (p.Leu1893=)
|
rs186237022
|
0.00003
|
NM_004006.3(DMD):c.5682T>G (p.Asp1894Glu)
|
rs779574344
|
0.00003
|
NM_004006.3(DMD):c.5740-5A>G
|
rs202014758
|
0.00003
|
NM_004006.3(DMD):c.5784A>G (p.Ala1928=)
|
rs922803283
|
0.00003
|
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)
|
rs755477994
|
0.00003
|
NM_004006.3(DMD):c.588G>A (p.Leu196=)
|
rs762842636
|
0.00003
|
NM_004006.3(DMD):c.6201G>A (p.Thr2067=)
|
rs969925680
|
0.00003
|
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)
|
rs774825173
|
0.00003
|
NM_004006.3(DMD):c.626T>C (p.Ile209Thr)
|
rs372832497
|
0.00003
|
NM_004006.3(DMD):c.6323G>A (p.Arg2108His)
|
rs1291065884
|
0.00003
|
NM_004006.3(DMD):c.6426A>G (p.Lys2142=)
|
rs764358532
|
0.00003
|
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln)
|
rs756238158
|
0.00003
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
NM_004006.3(DMD):c.6726A>G (p.Lys2242=)
|
rs145993057
|
0.00003
|
NM_004006.3(DMD):c.6837A>C (p.Val2279=)
|
rs1227539937
|
0.00003
|
NM_004006.3(DMD):c.708C>T (p.Phe236=)
|
rs1280238434
|
0.00003
|
NM_004006.3(DMD):c.7092C>T (p.Asp2364=)
|
rs768559703
|
0.00003
|
NM_004006.3(DMD):c.732C>T (p.Ser244=)
|
rs756282849
|
0.00003
|
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)
|
rs766075840
|
0.00003
|
NM_004006.3(DMD):c.7520A>G (p.Asn2507Ser)
|
rs772316082
|
0.00003
|
NM_004006.3(DMD):c.7528A>G (p.Ile2510Val)
|
rs757873067
|
0.00003
|
NM_004006.3(DMD):c.7553A>G (p.Gln2518Arg)
|
rs1242923274
|
0.00003
|
NM_004006.3(DMD):c.7722G>C (p.Gln2574His)
|
rs368164231
|
0.00003
|
NM_004006.3(DMD):c.7841A>G (p.Asp2614Gly)
|
rs748974113
|
0.00003
|
NM_004006.3(DMD):c.8022T>C (p.His2674=)
|
rs955297645
|
0.00003
|
NM_004006.3(DMD):c.8218-5T>C
|
rs183643245
|
0.00003
|
NM_004006.3(DMD):c.8220C>T (p.Asp2740=)
|
rs768871885
|
0.00003
|
NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr)
|
rs367735348
|
0.00003
|
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)
|
rs772732788
|
0.00003
|
NM_004006.3(DMD):c.8391-18G>A
|
rs760415449
|
0.00003
|
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)
|
rs767304792
|
0.00003
|
NM_004006.3(DMD):c.8529G>A (p.Lys2843=)
|
rs1004602990
|
0.00003
|
NM_004006.3(DMD):c.8563T>C (p.Leu2855=)
|
rs750917672
|
0.00003
|
NM_004006.3(DMD):c.8640A>G (p.Gly2880=)
|
rs915859706
|
0.00003
|
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)
|
rs747605156
|
0.00003
|
NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser)
|
rs756160145
|
0.00003
|
NM_004006.3(DMD):c.8763C>T (p.His2921=)
|
rs755037672
|
0.00003
|
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met)
|
rs751810893
|
0.00003
|
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu)
|
rs781748062
|
0.00003
|
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)
|
rs755815057
|
0.00003
|
NM_004006.3(DMD):c.8976G>A (p.Val2992=)
|
rs916865376
|
0.00003
|
NM_004006.3(DMD):c.8982C>T (p.His2994=)
|
rs1373425277
|
0.00003
|
NM_004006.3(DMD):c.9040C>T (p.Leu3014Phe)
|
rs780747093
|
0.00003
|
NM_004006.3(DMD):c.9073A>C (p.Lys3025Gln)
|
rs745982132
|
0.00003
|
NM_004006.3(DMD):c.9108G>A (p.Arg3036=)
|
rs1276369095
|
0.00003
|
NM_004006.3(DMD):c.9210G>A (p.Val3070=)
|
rs147336953
|
0.00003
|
NM_004006.3(DMD):c.9265A>T (p.Thr3089Ser)
|
rs776860944
|
0.00003
|
NM_004006.3(DMD):c.9303C>T (p.Val3101=)
|
rs368744016
|
0.00003
|
NM_004006.3(DMD):c.960+9A>G
|
rs886038537
|
0.00003
|
NM_004006.3(DMD):c.9649T>C (p.Tyr3217His)
|
rs766981643
|
0.00003
|
NM_004006.3(DMD):c.10014A>G (p.Gln3338=)
|
rs753610550
|
0.00002
|
NM_004006.3(DMD):c.10048C>T (p.His3350Tyr)
|
rs764520095
|
0.00002
|
NM_004006.3(DMD):c.10087-9C>G
|
rs777590351
|
0.00002
|
NM_004006.3(DMD):c.1008G>A (p.Glu336=)
|
rs1280118173
|
0.00002
|
NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly)
|
rs745766977
|
0.00002
|
NM_004006.3(DMD):c.10224-5T>C
|
rs768272792
|
0.00002
|
NM_004006.3(DMD):c.10248G>C (p.Trp3416Cys)
|
rs376745644
|
0.00002
|
NM_004006.3(DMD):c.10290C>T (p.His3430=)
|
rs1453988716
|
0.00002
|
NM_004006.3(DMD):c.104A>C (p.Gln35Pro)
|
rs1477107648
|
0.00002
|
NM_004006.3(DMD):c.10505A>C (p.Glu3502Ala)
|
rs773880226
|
0.00002
|
NM_004006.3(DMD):c.10554-13T>C
|
rs755556497
|
0.00002
|
NM_004006.3(DMD):c.1057T>C (p.Ser353Pro)
|
rs753289586
|
0.00002
|
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val)
|
rs367748290
|
0.00002
|
NM_004006.3(DMD):c.10620G>A (p.Pro3540=)
|
rs72466538
|
0.00002
|
NM_004006.3(DMD):c.10660C>T (p.Arg3554Trp)
|
rs1427119360
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.10683G>T (p.Glu3561Asp)
|
rs374369906
|
0.00002
|
NM_004006.3(DMD):c.10725G>A (p.Arg3575=)
|
rs147346696
|
0.00002
|
NM_004006.3(DMD):c.10797+16G>A
|
rs746148781
|
0.00002
|
NM_004006.3(DMD):c.10797+6G>A
|
rs965185463
|
0.00002
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
NM_004006.3(DMD):c.10900A>G (p.Ser3634Gly)
|
rs941558150
|
0.00002
|
NM_004006.3(DMD):c.10911G>A (p.Ser3637=)
|
rs747939733
|
0.00002
|
NM_004006.3(DMD):c.10921+16A>G
|
rs1305608225
|
0.00002
|
NM_004006.3(DMD):c.10921+5G>A
|
rs398123848
|
0.00002
|
NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)
|
rs759642119
|
0.00002
|
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg)
|
rs1216968523
|
0.00002
|
NM_004006.3(DMD):c.10953C>T (p.Asp3651=)
|
rs1168987353
|
0.00002
|
NM_004006.3(DMD):c.10975G>A (p.Val3659Met)
|
rs768532317
|
0.00002
|
NM_004006.3(DMD):c.11015-5T>A
|
rs753104670
|
0.00002
|
NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala)
|
rs768016083
|
0.00002
|
NM_004006.3(DMD):c.1122G>C (p.Val374=)
|
rs769001938
|
0.00002
|
NM_004006.3(DMD):c.1149+11A>G
|
rs143429366
|
0.00002
|
NM_004006.3(DMD):c.1299C>T (p.Cys433=)
|
rs372135475
|
0.00002
|
NM_004006.3(DMD):c.1332-9A>C
|
rs72468700
|
0.00002
|
NM_004006.3(DMD):c.1333T>C (p.Leu445=)
|
rs781105610
|
0.00002
|
NM_004006.3(DMD):c.1356C>G (p.Leu452=)
|
rs979333801
|
0.00002
|
NM_004006.3(DMD):c.1363C>G (p.Gln455Glu)
|
rs770751579
|
0.00002
|
NM_004006.3(DMD):c.1382A>G (p.Asn461Ser)
|
rs775115784
|
0.00002
|
NM_004006.3(DMD):c.1410A>G (p.Arg470=)
|
rs770845328
|
0.00002
|
NM_004006.3(DMD):c.1411A>G (p.Thr471Ala)
|
rs369834329
|
0.00002
|
NM_004006.3(DMD):c.1431G>T (p.Glu477Asp)
|
rs1003165905
|
0.00002
|
NM_004006.3(DMD):c.1432C>T (p.Pro478Ser)
|
rs375337020
|
0.00002
|
NM_004006.3(DMD):c.1463G>A (p.Arg488His)
|
rs794727065
|
0.00002
|
NM_004006.3(DMD):c.1482+20C>T
|
rs766314821
|
0.00002
|
NM_004006.3(DMD):c.1482+3A>G
|
rs368825354
|
0.00002
|
NM_004006.3(DMD):c.1536C>A (p.His512Gln)
|
rs776446238
|
0.00002
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
NM_004006.3(DMD):c.159C>A (p.Leu53=)
|
rs762245872
|
0.00002
|
NM_004006.3(DMD):c.1603-11C>T
|
rs370463654
|
0.00002
|
NM_004006.3(DMD):c.1626C>T (p.Asn542=)
|
rs1050459446
|
0.00002
|
NM_004006.3(DMD):c.162C>T (p.Leu54=)
|
rs904011265
|
0.00002
|
NM_004006.3(DMD):c.1637G>C (p.Trp546Ser)
|
rs1057518962
|
0.00002
|
NM_004006.3(DMD):c.1812+4T>C
|
rs777165271
|
0.00002
|
NM_004006.3(DMD):c.1813-16T>C
|
rs997756151
|
0.00002
|
NM_004006.3(DMD):c.1819A>C (p.Lys607Gln)
|
rs767698069
|
0.00002
|
NM_004006.3(DMD):c.1823C>T (p.Ala608Val)
|
rs189896732
|
0.00002
|
NM_004006.3(DMD):c.1830A>G (p.Leu610=)
|
rs369223666
|
0.00002
|
NM_004006.3(DMD):c.1896G>A (p.Lys632=)
|
rs766723466
|
0.00002
|
NM_004006.3(DMD):c.1920G>A (p.Thr640=)
|
rs766895256
|
0.00002
|
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp)
|
rs770572107
|
0.00002
|
NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr)
|
rs1488881909
|
0.00002
|
NM_004006.3(DMD):c.2157A>T (p.Glu719Asp)
|
rs1366140968
|
0.00002
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
NM_004006.3(DMD):c.2233C>G (p.Pro745Ala)
|
rs1435295333
|
0.00002
|
NM_004006.3(DMD):c.2311G>C (p.Ala771Pro)
|
rs776275581
|
0.00002
|
NM_004006.3(DMD):c.2380+16G>A
|
rs371594190
|
0.00002
|
NM_004006.3(DMD):c.2381-8C>A
|
rs753846097
|
0.00002
|
NM_004006.3(DMD):c.2431C>T (p.Arg811Trp)
|
rs781482969
|
0.00002
|
NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)
|
rs868641814
|
0.00002
|
NM_004006.3(DMD):c.2523A>G (p.Gln841=)
|
rs748655300
|
0.00002
|
NM_004006.3(DMD):c.2528A>T (p.Glu843Val)
|
rs202167701
|
0.00002
|
NM_004006.3(DMD):c.265-7T>A
|
rs768511179
|
0.00002
|
NM_004006.3(DMD):c.2726C>T (p.Ala909Val)
|
rs370014420
|
0.00002
|
NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)
|
rs1055371114
|
0.00002
|
NM_004006.3(DMD):c.2804-9T>C
|
rs756053444
|
0.00002
|
NM_004006.3(DMD):c.2828G>A (p.Arg943His)
|
rs398123911
|
0.00002
|
NM_004006.3(DMD):c.2842A>G (p.Met948Val)
|
rs186628781
|
0.00002
|
NM_004006.3(DMD):c.2848G>A (p.Ala950Thr)
|
rs794728997
|
0.00002
|
NM_004006.3(DMD):c.2900T>G (p.Leu967Arg)
|
rs766400327
|
0.00002
|
NM_004006.3(DMD):c.2910C>T (p.Thr970=)
|
rs765442122
|
0.00002
|
NM_004006.3(DMD):c.2946G>A (p.Leu982=)
|
rs770506515
|
0.00002
|
NM_004006.3(DMD):c.2950-16A>G
|
rs1351914564
|
0.00002
|
NM_004006.3(DMD):c.2967G>T (p.Leu989=)
|
rs760097427
|
0.00002
|
NM_004006.3(DMD):c.297C>T (p.Ile99=)
|
rs1004456825
|
0.00002
|
NM_004006.3(DMD):c.298G>A (p.Val100Ile)
|
rs779099343
|
0.00002
|
NM_004006.3(DMD):c.3029C>T (p.Ala1010Val)
|
rs780896933
|
0.00002
|
NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe)
|
rs794727380
|
0.00002
|
NM_004006.3(DMD):c.3231C>A (p.Ala1077=)
|
rs769402316
|
0.00002
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
NM_004006.3(DMD):c.326G>C (p.Gly109Ala)
|
rs1048652498
|
0.00002
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
NM_004006.3(DMD):c.3496C>G (p.Leu1166Val)
|
rs753274868
|
0.00002
|
NM_004006.3(DMD):c.3498A>G (p.Leu1166=)
|
rs767446687
|
0.00002
|
NM_004006.3(DMD):c.3510C>T (p.His1170=)
|
rs138945423
|
0.00002
|
NM_004006.3(DMD):c.3619G>A (p.Ala1207Thr)
|
rs1448639542
|
0.00002
|
NM_004006.3(DMD):c.3663A>G (p.Val1221=)
|
rs750549006
|
0.00002
|
NM_004006.3(DMD):c.3674T>C (p.Ile1225Thr)
|
rs757482211
|
0.00002
|
NM_004006.3(DMD):c.3677C>G (p.Ala1226Gly)
|
rs752521629
|
0.00002
|
NM_004006.3(DMD):c.367G>A (p.Val123Ile)
|
rs757220688
|
0.00002
|
NM_004006.3(DMD):c.3912G>C (p.Glu1304Asp)
|
rs764748376
|
0.00002
|
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)
|
rs759820971
|
0.00002
|
NM_004006.3(DMD):c.3960A>G (p.Pro1320=)
|
rs765256995
|
0.00002
|
NM_004006.3(DMD):c.3971G>A (p.Arg1324His)
|
rs768990357
|
0.00002
|
NM_004006.3(DMD):c.4176G>A (p.Gln1392=)
|
rs372863584
|
0.00002
|
NM_004006.3(DMD):c.4201G>A (p.Val1401Met)
|
rs139318945
|
0.00002
|
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg)
|
rs371601285
|
0.00002
|
NM_004006.3(DMD):c.4300A>G (p.Lys1434Glu)
|
rs771250421
|
0.00002
|
NM_004006.3(DMD):c.4302G>C (p.Lys1434Asn)
|
rs749556197
|
0.00002
|
NM_004006.3(DMD):c.4314A>G (p.Gln1438=)
|
rs985982212
|
0.00002
|
NM_004006.3(DMD):c.4345-8C>T
|
rs886044675
|
0.00002
|
NM_004006.3(DMD):c.4377A>G (p.Arg1459=)
|
rs2097986992
|
0.00002
|
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)
|
rs371646182
|
0.00002
|
NM_004006.3(DMD):c.446G>A (p.Arg149His)
|
rs771307588
|
0.00002
|
NM_004006.3(DMD):c.4497G>A (p.Gln1499=)
|
rs1417062461
|
0.00002
|
NM_004006.3(DMD):c.4519-12G>A
|
rs372282981
|
0.00002
|
NM_004006.3(DMD):c.4562T>C (p.Met1521Thr)
|
rs753920442
|
0.00002
|
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)
|
rs1431604157
|
0.00002
|
NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu)
|
rs1040362862
|
0.00002
|
NM_004006.3(DMD):c.4632A>T (p.Arg1544Ser)
|
rs780508132
|
0.00002
|
NM_004006.3(DMD):c.4675-9T>A
|
rs201382098
|
0.00002
|
NM_004006.3(DMD):c.4698G>A (p.Leu1566=)
|
rs1060504680
|
0.00002
|
NM_004006.3(DMD):c.4728G>C (p.Met1576Ile)
|
rs757160024
|
0.00002
|
NM_004006.3(DMD):c.4730G>A (p.Arg1577Gln)
|
rs753830915
|
0.00002
|
NM_004006.3(DMD):c.4745T>C (p.Val1582Ala)
|
rs147231219
|
0.00002
|
NM_004006.3(DMD):c.4762G>T (p.Ala1588Ser)
|
rs749732729
|
0.00002
|
NM_004006.3(DMD):c.4768A>G (p.Thr1590Ala)
|
rs1419816532
|
0.00002
|
NM_004006.3(DMD):c.4798G>C (p.Val1600Leu)
|
rs753565464
|
0.00002
|
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)
|
rs143719666
|
0.00002
|
NM_004006.3(DMD):c.4868A>G (p.Lys1623Arg)
|
rs373480671
|
0.00002
|
NM_004006.3(DMD):c.4924T>C (p.Leu1642=)
|
rs376720373
|
0.00002
|
NM_004006.3(DMD):c.4981A>G (p.Ile1661Val)
|
rs373475585
|
0.00002
|
NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe)
|
rs398123975
|
0.00002
|
NM_004006.3(DMD):c.5025+17G>A
|
rs970955064
|
0.00002
|
NM_004006.3(DMD):c.5047A>G (p.Thr1683Ala)
|
rs1057515873
|
0.00002
|
NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu)
|
rs763028318
|
0.00002
|
NM_004006.3(DMD):c.5133G>A (p.Gln1711=)
|
rs771957811
|
0.00002
|
NM_004006.3(DMD):c.5144A>G (p.Asp1715Gly)
|
rs151109270
|
0.00002
|
NM_004006.3(DMD):c.5155-8G>T
|
rs1367385862
|
0.00002
|
NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu)
|
rs200740165
|
0.00002
|
NM_004006.3(DMD):c.5235C>T (p.Arg1745=)
|
rs766312119
|
0.00002
|
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser)
|
rs373428963
|
0.00002
|
NM_004006.3(DMD):c.5263C>T (p.Pro1755Ser)
|
rs1057515872
|
0.00002
|
NM_004006.3(DMD):c.530+19C>T
|
rs370019240
|
0.00002
|
NM_004006.3(DMD):c.5305C>T (p.His1769Tyr)
|
rs771548119
|
0.00002
|
NM_004006.3(DMD):c.5325+14C>T
|
rs369965757
|
0.00002
|
NM_004006.3(DMD):c.5386C>T (p.Pro1796Ser)
|
rs758124706
|
0.00002
|
NM_004006.3(DMD):c.5390T>C (p.Leu1797Pro)
|
rs750303298
|
0.00002
|
NM_004006.3(DMD):c.5448+9G>A
|
rs771389805
|
0.00002
|
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)
|
rs1800271
|
0.00002
|
NM_004006.3(DMD):c.5493A>G (p.Gly1831=)
|
rs1322285225
|
0.00002
|
NM_004006.3(DMD):c.5510G>C (p.Arg1837Thr)
|
rs777546204
|
0.00002
|
NM_004006.3(DMD):c.551A>G (p.Asn184Ser)
|
rs1331056348
|
0.00002
|
NM_004006.3(DMD):c.5540T>C (p.Ile1847Thr)
|
rs371728045
|
0.00002
|
NM_004006.3(DMD):c.5577T>C (p.Asn1859=)
|
rs372707022
|
0.00002
|
NM_004006.3(DMD):c.5586+16T>C
|
rs1167154749
|
0.00002
|
NM_004006.3(DMD):c.5587-20A>T
|
rs909026795
|
0.00002
|
NM_004006.3(DMD):c.5672A>T (p.Lys1891Ile)
|
rs769324102
|
0.00002
|
NM_004006.3(DMD):c.5739+12T>G
|
rs1557290954
|
0.00002
|
NM_004006.3(DMD):c.5739+15G>T
|
rs398123996
|
0.00002
|
NM_004006.3(DMD):c.5789G>A (p.Arg1930His)
|
rs759051688
|
0.00002
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00002
|
NM_004006.3(DMD):c.5841A>G (p.Pro1947=)
|
rs1273548049
|
0.00002
|
NM_004006.3(DMD):c.5843C>G (p.Thr1948Ser)
|
rs748960678
|
0.00002
|
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)
|
rs377039314
|
0.00002
|
NM_004006.3(DMD):c.5864G>A (p.Arg1955His)
|
rs200455300
|
0.00002
|
NM_004006.3(DMD):c.5923-4C>G
|
rs780118536
|
0.00002
|
NM_004006.3(DMD):c.5942C>T (p.Thr1981Met)
|
rs140575687
|
0.00002
|
NM_004006.3(DMD):c.6053T>G (p.Leu2018Arg)
|
rs768910735
|
0.00002
|
NM_004006.3(DMD):c.6058G>C (p.Ala2020Pro)
|
rs765460659
|
0.00002
|
NM_004006.3(DMD):c.6068T>G (p.Leu2023Arg)
|
rs1060502662
|
0.00002
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
NM_004006.3(DMD):c.6076A>G (p.Lys2026Glu)
|
rs772603087
|
0.00002
|
NM_004006.3(DMD):c.6168T>C (p.His2056=)
|
rs752945396
|
0.00002
|
NM_004006.3(DMD):c.6225G>A (p.Gln2075=)
|
rs1226885639
|
0.00002
|
NM_004006.3(DMD):c.6238C>A (p.Gln2080Lys)
|
rs1340785309
|
0.00002
|
NM_004006.3(DMD):c.6262G>C (p.Val2088Leu)
|
rs1215888256
|
0.00002
|
NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp)
|
rs770711808
|
0.00002
|
NM_004006.3(DMD):c.633A>G (p.Lys211=)
|
rs367557830
|
0.00002
|
NM_004006.3(DMD):c.6462G>A (p.Gln2154=)
|
rs762777406
|
0.00002
|
NM_004006.3(DMD):c.6484T>C (p.Leu2162=)
|
rs768153284
|
0.00002
|
NM_004006.3(DMD):c.649+18C>T
|
rs1173004945
|
0.00002
|
NM_004006.3(DMD):c.6602A>G (p.Asp2201Gly)
|
rs755179126
|
0.00002
|
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln)
|
rs201818335
|
0.00002
|
NM_004006.3(DMD):c.6787C>T (p.Arg2263Cys)
|
rs200045725
|
0.00002
|
NM_004006.3(DMD):c.6788G>A (p.Arg2263His)
|
rs780221745
|
0.00002
|
NM_004006.3(DMD):c.6912+19C>T
|
rs1378603323
|
0.00002
|
NM_004006.3(DMD):c.6912+7C>T
|
rs779161941
|
0.00002
|
NM_004006.3(DMD):c.693C>T (p.Tyr231=)
|
rs374222301
|
0.00002
|
NM_004006.3(DMD):c.6957A>C (p.Gln2319His)
|
rs1603514135
|
0.00002
|
NM_004006.3(DMD):c.7003G>A (p.Glu2335Lys)
|
rs746939168
|
0.00002
|
NM_004006.3(DMD):c.7127A>T (p.Gln2376Leu)
|
rs774228400
|
0.00002
|
NM_004006.3(DMD):c.728T>C (p.Val243Ala)
|
rs753509616
|
0.00002
|
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)
|
rs780283825
|
0.00002
|
NM_004006.3(DMD):c.7370C>T (p.Ser2457Phe)
|
rs182761135
|
0.00002
|
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)
|
rs759274835
|
0.00002
|
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)
|
rs765207227
|
0.00002
|
NM_004006.3(DMD):c.746A>G (p.Gln249Arg)
|
rs1212242832
|
0.00002
|
NM_004006.3(DMD):c.7516A>G (p.Ile2506Val)
|
rs1048379601
|
0.00002
|
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)
|
rs771509836
|
0.00002
|
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)
|
rs748309027
|
0.00002
|
NM_004006.3(DMD):c.7660+13A>G
|
rs760058465
|
0.00002
|
NM_004006.3(DMD):c.768G>A (p.Arg256=)
|
rs1379469102
|
0.00002
|
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)
|
rs757011771
|
0.00002
|
NM_004006.3(DMD):c.7716G>A (p.Arg2572=)
|
rs200571671
|
0.00002
|
NM_004006.3(DMD):c.772C>A (p.Pro258Thr)
|
rs773066825
|
0.00002
|
NM_004006.3(DMD):c.7892G>A (p.Arg2631His)
|
rs748007790
|
0.00002
|
NM_004006.3(DMD):c.7923T>C (p.Asn2641=)
|
rs200170279
|
0.00002
|
NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)
|
rs1015097529
|
0.00002
|
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn)
|
rs771081514
|
0.00002
|
NM_004006.3(DMD):c.807T>A (p.His269Gln)
|
rs1038213947
|
0.00002
|
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)
|
rs750640802
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_004006.3(DMD):c.8240C>G (p.Ala2747Gly)
|
rs745873218
|
0.00002
|
NM_004006.3(DMD):c.8270A>G (p.Glu2757Gly)
|
rs201996040
|
0.00002
|
NM_004006.3(DMD):c.831+10G>A
|
rs756370588
|
0.00002
|
NM_004006.3(DMD):c.8374A>G (p.Lys2792Glu)
|
rs794727766
|
0.00002
|
NM_004006.3(DMD):c.842G>C (p.Ser281Thr)
|
rs762274027
|
0.00002
|
NM_004006.3(DMD):c.8543A>G (p.His2848Arg)
|
rs146890210
|
0.00002
|
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)
|
rs368114420
|
0.00002
|
NM_004006.3(DMD):c.8893G>A (p.Asp2965Asn)
|
rs398124077
|
0.00002
|
NM_004006.3(DMD):c.8937+5C>T
|
rs752551008
|
0.00002
|
NM_004006.3(DMD):c.8983G>A (p.Val2995Ile)
|
rs148643665
|
0.00002
|
NM_004006.3(DMD):c.8999G>A (p.Arg3000His)
|
rs772695216
|
0.00002
|
NM_004006.3(DMD):c.9076C>T (p.Leu3026Phe)
|
rs749533073
|
0.00002
|
NM_004006.3(DMD):c.9141A>G (p.Pro3047=)
|
rs959687969
|
0.00002
|
NM_004006.3(DMD):c.9163+8A>G
|
rs1290176648
|
0.00002
|
NM_004006.3(DMD):c.9164-3C>T
|
rs1237165748
|
0.00002
|
NM_004006.3(DMD):c.9224+15T>A
|
rs377505638
|
0.00002
|
NM_004006.3(DMD):c.9228C>T (p.His3076=)
|
rs761925260
|
0.00002
|
NM_004006.3(DMD):c.9270G>A (p.Glu3090=)
|
rs768790476
|
0.00002
|
NM_004006.3(DMD):c.9395C>A (p.Ala3132Asp)
|
rs200592992
|
0.00002
|
NM_004006.3(DMD):c.9510C>T (p.Asn3170=)
|
rs751900100
|
0.00002
|
NM_004006.3(DMD):c.956C>T (p.Ser319Leu)
|
rs765986138
|
0.00002
|
NM_004006.3(DMD):c.9584G>A (p.Arg3195His)
|
rs756958090
|
0.00002
|
NM_004006.3(DMD):c.960+8A>G
|
rs1326327750
|
0.00002
|
NM_004006.3(DMD):c.9678A>G (p.Thr3226=)
|
rs1052372620
|
0.00002
|
NM_004006.3(DMD):c.9695G>A (p.Arg3232His)
|
rs751095907
|
0.00002
|
NM_004006.3(DMD):c.9834G>A (p.Ala3278=)
|
rs749726519
|
0.00002
|
NM_004006.3(DMD):c.9975-6T>C
|
rs1459745620
|
0.00002
|
NM_004006.3(DMD):c.10006A>G (p.Ile3336Val)
|
rs756953567
|
0.00001
|
NM_004006.3(DMD):c.1004T>C (p.Met335Thr)
|
rs540761988
|
0.00001
|
NM_004006.3(DMD):c.10077T>C (p.Tyr3359=)
|
rs1181271457
|
0.00001
|
NM_004006.3(DMD):c.10086+9G>C
|
rs1171551733
|
0.00001
|
NM_004006.3(DMD):c.10086G>A (p.Pro3362=)
|
rs201288384
|
0.00001
|
NM_004006.3(DMD):c.10087-16A>G
|
rs934570843
|
0.00001
|
NM_004006.3(DMD):c.10087-8C>A
|
rs1261494456
|
0.00001
|
NM_004006.3(DMD):c.10146C>G (p.Thr3382=)
|
rs766427132
|
0.00001
|
NM_004006.3(DMD):c.10159G>T (p.Ala3387Ser)
|
rs978406887
|
0.00001
|
NM_004006.3(DMD):c.10160C>T (p.Ala3387Val)
|
rs202219782
|
0.00001
|
NM_004006.3(DMD):c.10161G>A (p.Ala3387=)
|
rs773387358
|
0.00001
|
NM_004006.3(DMD):c.10172G>A (p.Arg3391Gln)
|
rs1423537877
|
0.00001
|
NM_004006.3(DMD):c.10200C>G (p.Val3400=)
|
rs1373944162
|
0.00001
|
NM_004006.3(DMD):c.1020C>T (p.Asn340=)
|
rs1375821599
|
0.00001
|
NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu)
|
rs367657320
|
0.00001
|
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)
|
rs770516401
|
0.00001
|
NM_004006.3(DMD):c.10223+20G>A
|
rs886042643
|
0.00001
|
NM_004006.3(DMD):c.10224-4G>A
|
rs1254329222
|
0.00001
|
NM_004006.3(DMD):c.10227C>T (p.Pro3409=)
|
rs1256875628
|
0.00001
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
NM_004006.3(DMD):c.10272G>A (p.Ser3424=)
|
rs1400465644
|
0.00001
|
NM_004006.3(DMD):c.10306C>T (p.Arg3436Cys)
|
rs768314745
|
0.00001
|
NM_004006.3(DMD):c.10328+7G>C
|
rs746337275
|
0.00001
|
NM_004006.3(DMD):c.10352A>G (p.Asn3451Ser)
|
rs1201177282
|
0.00001
|
NM_004006.3(DMD):c.10428C>T (p.Cys3476=)
|
rs190867451
|
0.00001
|
NM_004006.3(DMD):c.10452C>A (p.Pro3484=)
|
rs1225615433
|
0.00001
|
NM_004006.3(DMD):c.10465C>T (p.Arg3489Cys)
|
rs771240938
|
0.00001
|
NM_004006.3(DMD):c.10466G>A (p.Arg3489His)
|
rs1297635532
|
0.00001
|
NM_004006.3(DMD):c.10554-4A>G
|
rs398123841
|
0.00001
|
NM_004006.3(DMD):c.10567G>C (p.Glu3523Gln)
|
rs1131691670
|
0.00001
|
NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)
|
rs374713915
|
0.00001
|
NM_004006.3(DMD):c.10608G>A (p.Leu3536=)
|
rs773786369
|
0.00001
|
NM_004006.3(DMD):c.10619C>T (p.Pro3540Leu)
|
rs747236323
|
0.00001
|
NM_004006.3(DMD):c.10659C>T (p.Pro3553=)
|
rs780730103
|
0.00001
|
NM_004006.3(DMD):c.10696C>T (p.Arg3566Cys)
|
rs750800262
|
0.00001
|
NM_004006.3(DMD):c.10711C>T (p.Arg3571Cys)
|
rs1221893618
|
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.10773C>T (p.His3591=)
|
rs768736629
|
0.00001
|
NM_004006.3(DMD):c.10797+10G>T
|
rs1372889768
|
0.00001
|
NM_004006.3(DMD):c.1080C>T (p.Asp360=)
|
rs1257660485
|
0.00001
|
NM_004006.3(DMD):c.10863C>T (p.Ser3621=)
|
rs398123847
|
0.00001
|
NM_004006.3(DMD):c.10864G>A (p.Asp3622Asn)
|
rs1470608087
|
0.00001
|
NM_004006.3(DMD):c.10910C>T (p.Ser3637Leu)
|
rs200166885
|
0.00001
|
NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro)
|
rs990606875
|
0.00001
|
NM_004006.3(DMD):c.10968A>G (p.Leu3656=)
|
rs1255987524
|
0.00001
|
NM_004006.3(DMD):c.10992C>T (p.Asn3664=)
|
rs1174073521
|
0.00001
|
NM_004006.3(DMD):c.11046+19C>A
|
rs398123850
|
0.00001
|
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)
|
rs773299186
|
0.00001
|
NM_004006.3(DMD):c.1112A>G (p.Asp371Gly)
|
rs770239678
|
0.00001
|
NM_004006.3(DMD):c.1149+12C>T
|
rs779342713
|
0.00001
|
NM_004006.3(DMD):c.1150-13C>T
|
rs769904605
|
0.00001
|
NM_004006.3(DMD):c.1150-4T>A
|
rs794727031
|
0.00001
|
NM_004006.3(DMD):c.1155C>T (p.Tyr385=)
|
rs1430845292
|
0.00001
|
NM_004006.3(DMD):c.1160T>C (p.Met387Thr)
|
rs746169492
|
0.00001
|
NM_004006.3(DMD):c.1162G>T (p.Asp388Tyr)
|
rs1454929812
|
0.00001
|
NM_004006.3(DMD):c.1209A>T (p.Gly403=)
|
rs755647122
|
0.00001
|
NM_004006.3(DMD):c.1214A>C (p.Lys405Thr)
|
rs781297201
|
0.00001
|
NM_004006.3(DMD):c.1239A>C (p.Ser413=)
|
rs751436295
|
0.00001
|
NM_004006.3(DMD):c.1257A>G (p.Glu419=)
|
rs750653819
|
0.00001
|
NM_004006.3(DMD):c.125G>A (p.Ser42Asn)
|
rs1557084218
|
0.00001
|
NM_004006.3(DMD):c.1279C>T (p.Leu427=)
|
rs764619452
|
0.00001
|
NM_004006.3(DMD):c.1311T>C (p.Ala437=)
|
rs398123855
|
0.00001
|
NM_004006.3(DMD):c.1323A>G (p.Lys441=)
|
rs754706072
|
0.00001
|
NM_004006.3(DMD):c.1331+16T>C
|
rs780061758
|
0.00001
|
NM_004006.3(DMD):c.1331+7C>T
|
rs990901771
|
0.00001
|
NM_004006.3(DMD):c.1338T>C (p.His446=)
|
rs752002947
|
0.00001
|
NM_004006.3(DMD):c.1340G>T (p.Arg447Ile)
|
rs766841315
|
0.00001
|
NM_004006.3(DMD):c.1348A>G (p.Met450Val)
|
rs750767440
|
0.00001
|
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)
|
rs863224981
|
0.00001
|
NM_004006.3(DMD):c.1423G>A (p.Glu475Lys)
|
rs1244566884
|
0.00001
|
NM_004006.3(DMD):c.144G>A (p.Arg48=)
|
rs577671071
|
0.00001
|
NM_004006.3(DMD):c.1458A>G (p.Leu486=)
|
rs780447358
|
0.00001
|
NM_004006.3(DMD):c.1464C>T (p.Arg488=)
|
rs771891715
|
0.00001
|
NM_004006.3(DMD):c.1473A>G (p.Gln491=)
|
rs144303432
|
0.00001
|
NM_004006.3(DMD):c.1476A>G (p.Gln492=)
|
rs1171698171
|
0.00001
|
NM_004006.3(DMD):c.1482+15T>C
|
rs1310878998
|
0.00001
|
NM_004006.3(DMD):c.1483G>A (p.Val495Met)
|
rs754176290
|
0.00001
|
NM_004006.3(DMD):c.151C>T (p.Leu51=)
|
rs1319668585
|
0.00001
|
NM_004006.3(DMD):c.1523A>G (p.Asn508Ser)
|
rs886044658
|
0.00001
|
NM_004006.3(DMD):c.1532C>T (p.Thr511Ile)
|
rs1295185756
|
0.00001
|
NM_004006.3(DMD):c.1551T>C (p.Val517=)
|
rs1394644455
|
0.00001
|
NM_004006.3(DMD):c.1564G>A (p.Gly522Arg)
|
rs778171516
|
0.00001
|
NM_004006.3(DMD):c.1567G>C (p.Asp523His)
|
rs754640902
|
0.00001
|
NM_004006.3(DMD):c.1572C>A (p.His524Gln)
|
rs779611516
|
0.00001
|
NM_004006.3(DMD):c.1572C>T (p.His524=)
|
rs779611516
|
0.00001
|
NM_004006.3(DMD):c.1582G>A (p.Ala528Thr)
|
rs201067368
|
0.00001
|
NM_004006.3(DMD):c.1602+8T>G
|
rs775861408
|
0.00001
|
NM_004006.3(DMD):c.1603-13G>T
|
rs1230662581
|
0.00001
|
NM_004006.3(DMD):c.1603-16A>G
|
rs767885995
|
0.00001
|
NM_004006.3(DMD):c.1604T>C (p.Val535Ala)
|
rs770149373
|
0.00001
|
NM_004006.3(DMD):c.1612G>A (p.Asp538Asn)
|
rs1308035408
|
0.00001
|
NM_004006.3(DMD):c.1616G>A (p.Arg539Gln)
|
rs1057515876
|
0.00001
|
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys)
|
rs778354538
|
0.00001
|
NM_004006.3(DMD):c.1649G>A (p.Arg550His)
|
rs1424295439
|
0.00001
|
NM_004006.3(DMD):c.1660T>C (p.Leu554=)
|
rs138371531
|
0.00001
|
NM_004006.3(DMD):c.1689T>C (p.Arg563=)
|
rs1601810481
|
0.00001
|
NM_004006.3(DMD):c.1694C>T (p.Thr565Ile)
|
rs763112789
|
0.00001
|
NM_004006.3(DMD):c.1704+7del
|
rs754771374
|
0.00001
|
NM_004006.3(DMD):c.1705-4G>T
|
rs889499438
|
0.00001
|
NM_004006.3(DMD):c.1705-7C>T
|
rs751260044
|
0.00001
|
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)
|
rs1326680081
|
0.00001
|
NM_004006.3(DMD):c.1734A>T (p.Lys578Asn)
|
rs754347572
|
0.00001
|
NM_004006.3(DMD):c.1739A>G (p.Asp580Gly)
|
rs1246969208
|
0.00001
|
NM_004006.3(DMD):c.1743A>G (p.Ala581=)
|
rs775679265
|
0.00001
|
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)
|
rs775846754
|
0.00001
|
NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)
|
rs376238937
|
0.00001
|
NM_004006.3(DMD):c.1758C>A (p.His586Gln)
|
rs1229933072
|
0.00001
|
NM_004006.3(DMD):c.1759A>G (p.Thr587Ala)
|
rs1344492096
|
0.00001
|
NM_004006.3(DMD):c.1776T>G (p.Asp592Glu)
|
rs768672229
|
0.00001
|
NM_004006.3(DMD):c.1812+14A>G
|
rs2052664134
|
0.00001
|
NM_004006.3(DMD):c.1812+20C>T
|
rs761057505
|
0.00001
|
NM_004006.3(DMD):c.1813-5A>C
|
rs1569214740
|
0.00001
|
NM_004006.3(DMD):c.1821A>T (p.Lys607Asn)
|
rs1449874137
|
0.00001
|
NM_004006.3(DMD):c.1825G>T (p.Asp609Tyr)
|
rs761724460
|
0.00001
|
NM_004006.3(DMD):c.1841A>C (p.Lys614Thr)
|
rs771660778
|
0.00001
|
NM_004006.3(DMD):c.186+13T>C
|
rs934506672
|
0.00001
|
NM_004006.3(DMD):c.186+9C>G
|
rs771877659
|
0.00001
|
NM_004006.3(DMD):c.1907T>C (p.Val636Ala)
|
rs764008354
|
0.00001
|
NM_004006.3(DMD):c.191A>C (p.Lys64Thr)
|
rs1482045034
|
0.00001
|
NM_004006.3(DMD):c.1946G>A (p.Arg649Gln)
|
rs749004200
|
0.00001
|
NM_004006.3(DMD):c.1959T>C (p.Asn653=)
|
rs770238198
|
0.00001
|
NM_004006.3(DMD):c.1965C>T (p.Val655=)
|
rs1255068879
|
0.00001
|
NM_004006.3(DMD):c.1975G>A (p.Glu659Lys)
|
rs748567438
|
0.00001
|
NM_004006.3(DMD):c.1989A>T (p.Ala663=)
|
rs925841475
|
0.00001
|
NM_004006.3(DMD):c.1998A>G (p.Ser666=)
|
rs1289591017
|
0.00001
|
NM_004006.3(DMD):c.2003C>T (p.Ala668Val)
|
rs1369143100
|
0.00001
|
NM_004006.3(DMD):c.2017C>G (p.Gln673Glu)
|
rs128626232
|
0.00001
|
NM_004006.3(DMD):c.2019G>A (p.Gln673=)
|
rs370310164
|
0.00001
|
NM_004006.3(DMD):c.2032C>G (p.Gln678Glu)
|
rs398123872
|
0.00001
|
NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)
|
rs367769606
|
0.00001
|
NM_004006.3(DMD):c.2079G>T (p.Gln693His)
|
rs761441684
|
0.00001
|
NM_004006.3(DMD):c.2090A>G (p.Lys697Arg)
|
rs769193495
|
0.00001
|
NM_004006.3(DMD):c.2114C>G (p.Pro705Arg)
|
rs771176356
|
0.00001
|
NM_004006.3(DMD):c.2134A>G (p.Arg712Gly)
|
rs1294221734
|
0.00001
|
NM_004006.3(DMD):c.2146G>C (p.Val716Leu)
|
rs886043081
|
0.00001
|
NM_004006.3(DMD):c.2163G>A (p.Arg721=)
|
rs2048850262
|
0.00001
|
NM_004006.3(DMD):c.21A>G (p.Val7=)
|
rs1374590369
|
0.00001
|
NM_004006.3(DMD):c.220C>T (p.Leu74=)
|
rs779111278
|
0.00001
|
NM_004006.3(DMD):c.2226G>A (p.Leu742=)
|
rs775246170
|
0.00001
|
NM_004006.3(DMD):c.2271A>C (p.Ser757=)
|
rs1478763130
|
0.00001
|
NM_004006.3(DMD):c.2292+10G>A
|
rs763586440
|
0.00001
|
NM_004006.3(DMD):c.2292+15A>G
|
rs757746393
|
0.00001
|
NM_004006.3(DMD):c.2297T>C (p.Ile766Thr)
|
rs1443021146
|
0.00001
|
NM_004006.3(DMD):c.2303G>A (p.Arg768Gln)
|
rs769377296
|
0.00001
|
NM_004006.3(DMD):c.2304A>G (p.Arg768=)
|
rs747670491
|
0.00001
|
NM_004006.3(DMD):c.2312C>T (p.Ala771Val)
|
rs1245604423
|
0.00001
|
NM_004006.3(DMD):c.2343C>T (p.Ser781=)
|
rs1247816528
|
0.00001
|
NM_004006.3(DMD):c.2344A>C (p.Arg782=)
|
rs886043764
|
0.00001
|
NM_004006.3(DMD):c.234C>T (p.Asn78=)
|
rs1370357378
|
0.00001
|
NM_004006.3(DMD):c.2360T>A (p.Leu787Gln)
|
rs757260917
|
0.00001
|
NM_004006.3(DMD):c.2365G>A (p.Glu789Lys)
|
rs763844939
|
0.00001
|
NM_004006.3(DMD):c.2367A>G (p.Glu789=)
|
rs376648723
|
0.00001
|
NM_004006.3(DMD):c.2380+8C>T
|
rs773219863
|
0.00001
|
NM_004006.3(DMD):c.2381-10T>G
|
rs2042997758
|
0.00001
|
NM_004006.3(DMD):c.2381-7T>G
|
rs1201559737
|
0.00001
|
NM_004006.3(DMD):c.2384G>T (p.Gly795Val)
|
rs760247534
|
0.00001
|
NM_004006.3(DMD):c.2399G>A (p.Ser800Asn)
|
rs991360358
|
0.00001
|
NM_004006.3(DMD):c.2408A>G (p.Gln803Arg)
|
rs769702449
|
0.00001
|
NM_004006.3(DMD):c.241C>T (p.Leu81=)
|
rs914011709
|
0.00001
|
NM_004006.3(DMD):c.2422C>T (p.Leu808=)
|
rs1289380956
|
0.00001
|
NM_004006.3(DMD):c.243G>A (p.Leu81=)
|
rs748842563
|
0.00001
|
NM_004006.3(DMD):c.245G>A (p.Arg82Gln)
|
rs1228664222
|
0.00001
|
NM_004006.3(DMD):c.2462A>G (p.Glu821Gly)
|
rs1420714074
|
0.00001
|
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)
|
rs778811645
|
0.00001
|
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly)
|
rs769988372
|
0.00001
|
NM_004006.3(DMD):c.2492A>T (p.Asn831Ile)
|
rs2042985183
|
0.00001
|
NM_004006.3(DMD):c.2500G>A (p.Ala834Thr)
|
rs767063127
|
0.00001
|
NM_004006.3(DMD):c.2501C>G (p.Ala834Gly)
|
rs759157383
|
0.00001
|
NM_004006.3(DMD):c.2505C>T (p.Phe835=)
|
rs771147195
|
0.00001
|
NM_004006.3(DMD):c.2520A>G (p.Gln840=)
|
rs770324037
|
0.00001
|
NM_004006.3(DMD):c.2530C>A (p.Gln844Lys)
|
rs768892830
|
0.00001
|
NM_004006.3(DMD):c.2530C>G (p.Gln844Glu)
|
rs768892830
|
0.00001
|
NM_004006.3(DMD):c.2551A>C (p.Asn851His)
|
rs753665097
|
0.00001
|
NM_004006.3(DMD):c.2570C>T (p.Pro857Leu)
|
rs1302325394
|
0.00001
|
NM_004006.3(DMD):c.2572A>T (p.Thr858Ser)
|
rs752670585
|
0.00001
|
NM_004006.3(DMD):c.2599A>G (p.Lys867Glu)
|
rs1382610511
|
0.00001
|
NM_004006.3(DMD):c.260A>G (p.Asn87Ser)
|
rs1452900149
|
0.00001
|
NM_004006.3(DMD):c.2616T>C (p.Ile872=)
|
rs141423865
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.2622+10T>C
|
rs1261724426
|
0.00001
|
NM_004006.3(DMD):c.2622+15T>A
|
rs371244067
|
0.00001
|
NM_004006.3(DMD):c.2623-14A>G
|
rs369130309
|
0.00001
|
NM_004006.3(DMD):c.2623-15T>C
|
rs764695727
|
0.00001
|
NM_004006.3(DMD):c.2628A>T (p.Glu876Asp)
|
rs869025382
|
0.00001
|
NM_004006.3(DMD):c.2635C>T (p.Arg879Trp)
|
rs1603634614
|
0.00001
|
NM_004006.3(DMD):c.264+3A>G
|
rs748003531
|
0.00001
|
NM_004006.3(DMD):c.264+8G>A
|
rs1194016618
|
0.00001
|
NM_004006.3(DMD):c.2645A>T (p.Asp882Val)
|
rs228406
|
0.00001
|
NM_004006.3(DMD):c.265-20T>G
|
rs762473651
|
0.00001
|
NM_004006.3(DMD):c.2656C>G (p.Gln886Glu)
|
rs754893725
|
0.00001
|
NM_004006.3(DMD):c.2682C>T (p.Ser894=)
|
rs398123904
|
0.00001
|
NM_004006.3(DMD):c.2712C>T (p.Pro904=)
|
rs1267801118
|
0.00001
|
NM_004006.3(DMD):c.2724T>G (p.Asp908Glu)
|
rs372780045
|
0.00001
|
NM_004006.3(DMD):c.2729A>T (p.Asp910Val)
|
rs1469818959
|
0.00001
|
NM_004006.3(DMD):c.2764T>G (p.Phe922Val)
|
rs185395584
|
0.00001
|
NM_004006.3(DMD):c.277A>G (p.Asn93Asp)
|
rs398123907
|
0.00001
|
NM_004006.3(DMD):c.2785G>A (p.Glu929Lys)
|
rs772679497
|
0.00001
|
NM_004006.3(DMD):c.2841C>T (p.Thr947=)
|
rs777581919
|
0.00001
|
NM_004006.3(DMD):c.284G>T (p.Gly95Val)
|
rs1381812538
|
0.00001
|
NM_004006.3(DMD):c.2893C>T (p.Pro965Ser)
|
rs1431281003
|
0.00001
|
NM_004006.3(DMD):c.2937C>T (p.Leu979=)
|
rs774450833
|
0.00001
|
NM_004006.3(DMD):c.2938G>A (p.Gly980Arg)
|
rs374102077
|
0.00001
|
NM_004006.3(DMD):c.293A>G (p.Asp98Gly)
|
rs772375271
|
0.00001
|
NM_004006.3(DMD):c.2949+4dup
|
rs886043048
|
0.00001
|
NM_004006.3(DMD):c.294C>T (p.Asp98=)
|
rs965301743
|
0.00001
|
NM_004006.3(DMD):c.2950-9G>A
|
rs772822759
|
0.00001
|
NM_004006.3(DMD):c.2955A>G (p.Leu985=)
|
rs776362860
|
0.00001
|
NM_004006.3(DMD):c.2957A>G (p.Gln986Arg)
|
rs1386571829
|
0.00001
|
NM_004006.3(DMD):c.2973G>A (p.Glu991=)
|
rs780454571
|
0.00001
|
NM_004006.3(DMD):c.2991C>T (p.Tyr997=)
|
rs863224992
|
0.00001
|
NM_004006.3(DMD):c.3004A>G (p.Thr1002Ala)
|
rs1244241099
|
0.00001
|
NM_004006.3(DMD):c.3029C>A (p.Ala1010Glu)
|
rs780896933
|
0.00001
|
NM_004006.3(DMD):c.3030G>A (p.Ala1010=)
|
rs72468666
|
0.00001
|
NM_004006.3(DMD):c.3031C>A (p.Pro1011Thr)
|
rs982781720
|
0.00001
|
NM_004006.3(DMD):c.306A>G (p.Gly102=)
|
rs2078433503
|
0.00001
|
NM_004006.3(DMD):c.3093G>T (p.Lys1031Asn)
|
rs1220406312
|
0.00001
|
NM_004006.3(DMD):c.3098C>T (p.Ser1033Phe)
|
rs377415288
|
0.00001
|
NM_004006.3(DMD):c.31+10A>G
|
rs1465099653
|
0.00001
|
NM_004006.3(DMD):c.31+20A>G
|
rs889480473
|
0.00001
|
NM_004006.3(DMD):c.3102C>A (p.Ser1034=)
|
rs1396624685
|
0.00001
|
NM_004006.3(DMD):c.3119G>T (p.Cys1040Phe)
|
rs1603634202
|
0.00001
|
NM_004006.3(DMD):c.3134A>T (p.Glu1045Val)
|
rs373495745
|
0.00001
|
NM_004006.3(DMD):c.3152G>A (p.Arg1051Gln)
|
rs761715369
|
0.00001
|
NM_004006.3(DMD):c.3163-14G>A
|
rs1039281632
|
0.00001
|
NM_004006.3(DMD):c.3163-7G>A
|
rs745663846
|
0.00001
|
NM_004006.3(DMD):c.3163-8C>T
|
rs764999101
|
0.00001
|
NM_004006.3(DMD):c.3167A>G (p.His1056Arg)
|
rs757192472
|
0.00001
|
NM_004006.3(DMD):c.3193G>C (p.Ala1065Pro)
|
rs774756042
|
0.00001
|
NM_004006.3(DMD):c.3195T>C (p.Ala1065=)
|
rs1339293733
|
0.00001
|
NM_004006.3(DMD):c.3198A>C (p.Glu1066Asp)
|
rs1334068605
|
0.00001
|
NM_004006.3(DMD):c.3210T>C (p.Phe1070=)
|
rs766693571
|
0.00001
|
NM_004006.3(DMD):c.3237G>A (p.Gly1079=)
|
rs748235011
|
0.00001
|
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)
|
rs886043493
|
0.00001
|
NM_004006.3(DMD):c.3249T>A (p.Ile1083=)
|
rs1235726996
|
0.00001
|
NM_004006.3(DMD):c.3252A>C (p.Leu1084=)
|
rs1186725881
|
0.00001
|
NM_004006.3(DMD):c.3272G>A (p.Cys1091Tyr)
|
rs1402060578
|
0.00001
|
NM_004006.3(DMD):c.3273C>T (p.Cys1091=)
|
rs757027812
|
0.00001
|
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)
|
rs183819382
|
0.00001
|
NM_004006.3(DMD):c.3292A>G (p.Ile1098Val)
|
rs1215676467
|
0.00001
|
NM_004006.3(DMD):c.3311G>C (p.Ser1104Thr)
|
rs1009754942
|
0.00001
|
NM_004006.3(DMD):c.3360G>A (p.Glu1120=)
|
rs754467083
|
0.00001
|
NM_004006.3(DMD):c.3361C>T (p.Pro1121Ser)
|
rs150653420
|
0.00001
|
NM_004006.3(DMD):c.3387A>G (p.Thr1129=)
|
rs765737579
|
0.00001
|
NM_004006.3(DMD):c.3403A>G (p.Asn1135Asp)
|
rs753384771
|
0.00001
|
NM_004006.3(DMD):c.3415G>A (p.Asp1139Asn)
|
rs1464988987
|
0.00001
|
NM_004006.3(DMD):c.3431A>C (p.Gln1144Pro)
|
rs748029344
|
0.00001
|
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr)
|
rs398123940
|
0.00001
|
NM_004006.3(DMD):c.3461G>T (p.Gly1154Val)
|
rs774624660
|
0.00001
|
NM_004006.3(DMD):c.3472A>G (p.Lys1158Glu)
|
rs182728059
|
0.00001
|
NM_004006.3(DMD):c.3476C>T (p.Thr1159Ile)
|
rs757041202
|
0.00001
|
NM_004006.3(DMD):c.3482G>A (p.Ser1161Asn)
|
rs371273141
|
0.00001
|
NM_004006.3(DMD):c.3488A>G (p.Gln1163Arg)
|
rs1603633866
|
0.00001
|
NM_004006.3(DMD):c.3492A>T (p.Lys1164Asn)
|
rs1032762656
|
0.00001
|
NM_004006.3(DMD):c.3508C>T (p.His1170Tyr)
|
rs1210629851
|
0.00001
|
NM_004006.3(DMD):c.3512A>C (p.Glu1171Ala)
|
rs1569563277
|
0.00001
|
NM_004006.3(DMD):c.3531A>G (p.Glu1177=)
|
rs751711333
|
0.00001
|
NM_004006.3(DMD):c.3561T>C (p.Tyr1187=)
|
rs775514990
|
0.00001
|
NM_004006.3(DMD):c.3567T>A (p.Thr1189=)
|
rs370685748
|
0.00001
|
NM_004006.3(DMD):c.357+19G>A
|
rs1355430066
|
0.00001
|
NM_004006.3(DMD):c.3572A>G (p.Asp1191Gly)
|
rs745370476
|
0.00001
|
NM_004006.3(DMD):c.358-8A>G
|
rs1300529512
|
0.00001
|
NM_004006.3(DMD):c.3590T>C (p.Val1197Ala)
|
rs777955789
|
0.00001
|
NM_004006.3(DMD):c.3603+7_3603+8insT
|
rs1428887016
|
0.00001
|
NM_004006.3(DMD):c.3603+9A>C
|
rs781665647
|
0.00001
|
NM_004006.3(DMD):c.360C>A (p.Val120=)
|
rs779000587
|
0.00001
|
NM_004006.3(DMD):c.3612A>G (p.Lys1204=)
|
rs769985775
|
0.00001
|
NM_004006.3(DMD):c.3635C>T (p.Ala1212Val)
|
rs142171890
|
0.00001
|
NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser)
|
rs886042862
|
0.00001
|
NM_004006.3(DMD):c.3690T>G (p.Pro1230=)
|
rs1316770562
|
0.00001
|
NM_004006.3(DMD):c.3753C>T (p.Cys1251=)
|
rs778912710
|
0.00001
|
NM_004006.3(DMD):c.3768G>C (p.Gly1256=)
|
rs1322284845
|
0.00001
|
NM_004006.3(DMD):c.376A>G (p.Asn126Asp)
|
rs756725662
|
0.00001
|
NM_004006.3(DMD):c.3777G>A (p.Lys1259=)
|
rs1445951268
|
0.00001
|
NM_004006.3(DMD):c.3786+17G>T
|
rs754831255
|
0.00001
|
NM_004006.3(DMD):c.3789A>G (p.Glu1263=)
|
rs1384918904
|
0.00001
|
NM_004006.3(DMD):c.381C>T (p.Ile127=)
|
rs1286648070
|
0.00001
|
NM_004006.3(DMD):c.3848A>G (p.Asn1283Ser)
|
rs778145106
|
0.00001
|
NM_004006.3(DMD):c.3891C>T (p.Gly1297=)
|
rs758317261
|
0.00001
|
NM_004006.3(DMD):c.3922-17T>C
|
rs1239531993
|
0.00001
|
NM_004006.3(DMD):c.3937A>G (p.Met1313Val)
|
rs794729003
|
0.00001
|
NM_004006.3(DMD):c.395A>G (p.Gln132Arg)
|
rs751455994
|
0.00001
|
NM_004006.3(DMD):c.396A>G (p.Gln132=)
|
rs1421854333
|
0.00001
|
NM_004006.3(DMD):c.397C>G (p.Gln133Glu)
|
rs1422155550
|
0.00001
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)
|
rs770827878
|
0.00001
|
NM_004006.3(DMD):c.3992C>T (p.Thr1331Ile)
|
rs1485535759
|
0.00001
|
NM_004006.3(DMD):c.3999C>T (p.Gly1333=)
|
rs140759792
|
0.00001
|
NM_004006.3(DMD):c.399A>T (p.Gln133His)
|
rs1358899513
|
0.00001
|
NM_004006.3(DMD):c.4014G>A (p.Glu1338=)
|
rs752324539
|
0.00001
|
NM_004006.3(DMD):c.402C>A (p.Thr134=)
|
rs1245288522
|
0.00001
|
NM_004006.3(DMD):c.4040T>A (p.Phe1347Tyr)
|
rs1466636716
|
0.00001
|
NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys)
|
rs1278483491
|
0.00001
|
NM_004006.3(DMD):c.4064A>G (p.His1355Arg)
|
rs1422809613
|
0.00001
|
NM_004006.3(DMD):c.4071+16A>G
|
rs756282540
|
0.00001
|
NM_004006.3(DMD):c.4072-19T>G
|
rs749647782
|
0.00001
|
NM_004006.3(DMD):c.4072-20C>T
|
rs1326524302
|
0.00001
|
NM_004006.3(DMD):c.4072-4T>A
|
rs755064178
|
0.00001
|
NM_004006.3(DMD):c.4072-8C>A
|
rs781198887
|
0.00001
|
NM_004006.3(DMD):c.4080G>A (p.Arg1360=)
|
rs143900318
|
0.00001
|
NM_004006.3(DMD):c.4105A>G (p.Ile1369Val)
|
rs978977375
|
0.00001
|
NM_004006.3(DMD):c.4131A>G (p.Lys1377=)
|
rs1800263
|
0.00001
|
NM_004006.3(DMD):c.414G>A (p.Lys138=)
|
rs1299509319
|
0.00001
|
NM_004006.3(DMD):c.4198A>G (p.Lys1400Glu)
|
rs1347208359
|
0.00001
|
NM_004006.3(DMD):c.4202T>C (p.Val1401Ala)
|
rs751046843
|
0.00001
|
NM_004006.3(DMD):c.4206C>T (p.Asp1402=)
|
rs766668051
|
0.00001
|
NM_004006.3(DMD):c.4207G>A (p.Ala1403Thr)
|
rs762615933
|
0.00001
|
NM_004006.3(DMD):c.4208C>T (p.Ala1403Val)
|
rs1267618995
|
0.00001
|
NM_004006.3(DMD):c.4234-4A>G
|
rs764846703
|
0.00001
|
NM_004006.3(DMD):c.4299G>C (p.Gly1433=)
|
rs1174990294
|
0.00001
|
NM_004006.3(DMD):c.429G>T (p.Trp143Cys)
|
rs763567086
|
0.00001
|
NM_004006.3(DMD):c.4311C>A (p.Ala1437=)
|
rs1410304028
|
0.00001
|
NM_004006.3(DMD):c.4328A>G (p.Gln1443Arg)
|
rs749903671
|
0.00001
|
NM_004006.3(DMD):c.4336G>A (p.Val1446Ile)
|
rs756852420
|
0.00001
|
NM_004006.3(DMD):c.433C>A (p.Arg145=)
|
rs128626235
|
0.00001
|
NM_004006.3(DMD):c.4341A>C (p.Ala1447=)
|
rs1461224758
|
0.00001
|
NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)
|
rs755835144
|
0.00001
|
NM_004006.3(DMD):c.4383C>T (p.Phe1461=)
|
rs752977828
|
0.00001
|
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp)
|
rs1462655612
|
0.00001
|
NM_004006.3(DMD):c.4413A>G (p.Leu1471=)
|
rs1234449679
|
0.00001
|
NM_004006.3(DMD):c.4429A>T (p.Ile1477Phe)
|
rs376143404
|
0.00001
|
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile)
|
rs765355046
|
0.00001
|
NM_004006.3(DMD):c.4458T>A (p.Pro1486=)
|
rs775097950
|
0.00001
|
NM_004006.3(DMD):c.4480G>A (p.Glu1494Lys)
|
rs369118010
|
0.00001
|
NM_004006.3(DMD):c.448A>C (p.Asn150His)
|
rs1341299449
|
0.00001
|
NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg)
|
rs745462674
|
0.00001
|
NM_004006.3(DMD):c.4510C>T (p.His1504Tyr)
|
rs1469008607
|
0.00001
|
NM_004006.3(DMD):c.4573A>T (p.Thr1525Ser)
|
rs751320057
|
0.00001
|
NM_004006.3(DMD):c.4588G>A (p.Val1530Ile)
|
rs762743383
|
0.00001
|
NM_004006.3(DMD):c.458A>G (p.Gln153Arg)
|
rs749488822
|
0.00001
|
NM_004006.3(DMD):c.4621C>A (p.Leu1541Ile)
|
rs777614188
|
0.00001
|
NM_004006.3(DMD):c.4628A>G (p.Glu1543Gly)
|
rs746681404
|
0.00001
|
NM_004006.3(DMD):c.4650G>A (p.Leu1550=)
|
rs772488016
|
0.00001
|
NM_004006.3(DMD):c.4663C>T (p.Leu1555=)
|
rs746284176
|
0.00001
|
NM_004006.3(DMD):c.4692A>G (p.Gln1564=)
|
rs777776824
|
0.00001
|
NM_004006.3(DMD):c.471C>T (p.Ile157=)
|
rs1445172305
|
0.00001
|
NM_004006.3(DMD):c.4720C>T (p.Arg1574Cys)
|
rs781465089
|
0.00001
|
NM_004006.3(DMD):c.4765G>A (p.Ala1589Thr)
|
rs770347305
|
0.00001
|
NM_004006.3(DMD):c.4773T>C (p.Asp1591=)
|
rs886044358
|
0.00001
|
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)
|
rs398123966
|
0.00001
|
NM_004006.3(DMD):c.4785A>C (p.Thr1595=)
|
rs983181112
|
0.00001
|
NM_004006.3(DMD):c.4836C>A (p.Ala1612=)
|
rs959195857
|
0.00001
|
NM_004006.3(DMD):c.483C>G (p.Thr161=)
|
rs1210192846
|
0.00001
|
NM_004006.3(DMD):c.4845+13T>C
|
rs766954411
|
0.00001
|
NM_004006.3(DMD):c.4845+7C>T
|
rs764100658
|
0.00001
|
NM_004006.3(DMD):c.4845+9T>C
|
rs756158338
|
0.00001
|
NM_004006.3(DMD):c.4910C>T (p.Ala1637Val)
|
rs1285159164
|
0.00001
|
NM_004006.3(DMD):c.4951G>A (p.Asp1651Asn)
|
rs1369953471
|
0.00001
|
NM_004006.3(DMD):c.4995C>T (p.Ser1665=)
|
rs775659020
|
0.00001
|
NM_004006.3(DMD):c.5000C>T (p.Ala1667Val)
|
rs759762111
|
0.00001
|
NM_004006.3(DMD):c.5001A>G (p.Ala1667=)
|
rs1603631751
|
0.00001
|
NM_004006.3(DMD):c.5007G>C (p.Glu1669Asp)
|
rs774454385
|
0.00001
|
NM_004006.3(DMD):c.5026-8C>T
|
rs1057520973
|
0.00001
|
NM_004006.3(DMD):c.5040C>T (p.His1680=)
|
rs72468632
|
0.00001
|
NM_004006.3(DMD):c.5055C>T (p.Asp1685=)
|
rs1250411809
|
0.00001
|
NM_004006.3(DMD):c.5074A>G (p.Thr1692Ala)
|
rs367674503
|
0.00001
|
NM_004006.3(DMD):c.5091G>T (p.Gln1697His)
|
rs766504075
|
0.00001
|
NM_004006.3(DMD):c.5123A>G (p.Lys1708Arg)
|
rs775302077
|
0.00001
|
NM_004006.3(DMD):c.5129C>T (p.Pro1710Leu)
|
rs865938529
|
0.00001
|
NM_004006.3(DMD):c.5146G>A (p.Val1716Met)
|
rs748814615
|
0.00001
|
NM_004006.3(DMD):c.5148G>A (p.Val1716=)
|
rs777471296
|
0.00001
|
NM_004006.3(DMD):c.5149C>T (p.Leu1717Phe)
|
rs769383291
|
0.00001
|
NM_004006.3(DMD):c.514C>G (p.Leu172Val)
|
rs747353479
|
0.00001
|
NM_004006.3(DMD):c.5154+8A>G
|
rs781716282
|
0.00001
|
NM_004006.3(DMD):c.5154+9T>C
|
rs201165272
|
0.00001
|
NM_004006.3(DMD):c.5155-1G>C
|
rs1220757614
|
0.00001
|
NM_004006.3(DMD):c.5155C>T (p.Arg1719Cys)
|
rs1365170508
|
0.00001
|
NM_004006.3(DMD):c.5156G>A (p.Arg1719His)
|
rs1273883368
|
0.00001
|
NM_004006.3(DMD):c.5159T>C (p.Leu1720Ser)
|
rs772640289
|
0.00001
|
NM_004006.3(DMD):c.5183G>A (p.Arg1728His)
|
rs780599147
|
0.00001
|
NM_004006.3(DMD):c.5188A>G (p.Lys1730Glu)
|
rs1473732566
|
0.00001
|
NM_004006.3(DMD):c.5221T>C (p.Leu1741=)
|
rs1228749524
|
0.00001
|
NM_004006.3(DMD):c.5233C>T (p.Arg1745Cys)
|
rs1326450715
|
0.00001
|
NM_004006.3(DMD):c.5236G>A (p.Gly1746Ser)
|
rs1305126237
|
0.00001
|
NM_004006.3(DMD):c.5277G>T (p.Glu1759Asp)
|
rs761491343
|
0.00001
|
NM_004006.3(DMD):c.5285A>T (p.His1762Leu)
|
rs1482260149
|
0.00001
|
NM_004006.3(DMD):c.531-17A>G
|
rs398123984
|
0.00001
|
NM_004006.3(DMD):c.531-6T>C
|
rs1369460201
|
0.00001
|
NM_004006.3(DMD):c.531-9G>T
|
rs780448549
|
0.00001
|
NM_004006.3(DMD):c.5325+10T>C
|
rs1379139737
|
0.00001
|
NM_004006.3(DMD):c.5326-7T>G
|
rs1431625295
|
0.00001
|
NM_004006.3(DMD):c.5339T>C (p.Leu1780Ser)
|
rs966393024
|
0.00001
|
NM_004006.3(DMD):c.5368A>G (p.Ile1790Val)
|
rs886043883
|
0.00001
|
NM_004006.3(DMD):c.5370A>C (p.Ile1790=)
|
rs748336386
|
0.00001
|
NM_004006.3(DMD):c.5389C>T (p.Leu1797=)
|
rs1010693200
|
0.00001
|
NM_004006.3(DMD):c.5393A>T (p.Glu1798Val)
|
rs778973278
|
0.00001
|
NM_004006.3(DMD):c.5410G>A (p.Gly1804Arg)
|
rs753348797
|
0.00001
|
NM_004006.3(DMD):c.5439T>C (p.Asn1813=)
|
rs1238738620
|
0.00001
|
NM_004006.3(DMD):c.5447T>C (p.Met1816Thr)
|
rs754474379
|
0.00001
|
NM_004006.3(DMD):c.5449-14T>C
|
rs1569559115
|
0.00001
|
NM_004006.3(DMD):c.5454A>G (p.Glu1818=)
|
rs1187639845
|
0.00001
|
NM_004006.3(DMD):c.5468C>G (p.Thr1823Ser)
|
rs1465595838
|
0.00001
|
NM_004006.3(DMD):c.546C>T (p.Asp182=)
|
rs749008339
|
0.00001
|
NM_004006.3(DMD):c.5505A>G (p.Gln1835=)
|
rs778782916
|
0.00001
|
NM_004006.3(DMD):c.5509A>C (p.Arg1837=)
|
rs1367265135
|
0.00001
|
NM_004006.3(DMD):c.5518G>C (p.Asp1840His)
|
rs905571950
|
0.00001
|
NM_004006.3(DMD):c.5525G>C (p.Arg1842Thr)
|
rs376011686
|
0.00001
|
NM_004006.3(DMD):c.5531G>A (p.Arg1844Gln)
|
rs751221923
|
0.00001
|
NM_004006.3(DMD):c.554G>A (p.Ser185Asn)
|
rs1168876204
|
0.00001
|
NM_004006.3(DMD):c.5557C>G (p.Leu1853Val)
|
rs949836768
|
0.00001
|
NM_004006.3(DMD):c.555T>C (p.Ser185=)
|
rs755537358
|
0.00001
|
NM_004006.3(DMD):c.5562A>G (p.Leu1854=)
|
rs377151540
|
0.00001
|
NM_004006.3(DMD):c.5567C>T (p.Thr1856Ile)
|
rs148246460
|
0.00001
|
NM_004006.3(DMD):c.5601A>C (p.Gln1867His)
|
rs1057519179
|
0.00001
|
NM_004006.3(DMD):c.5606G>C (p.Arg1869Thr)
|
rs1437145731
|
0.00001
|
NM_004006.3(DMD):c.5617C>G (p.Leu1873Val)
|
rs769637913
|
0.00001
|
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
|
rs1295935628
|
0.00001
|
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)
|
rs398123994
|
0.00001
|
NM_004006.3(DMD):c.5703C>T (p.Ala1901=)
|
rs1212002938
|
0.00001
|
NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)
|
rs752774864
|
0.00001
|
NM_004006.3(DMD):c.5715G>A (p.Glu1905=)
|
rs1304283961
|
0.00001
|
NM_004006.3(DMD):c.5728A>C (p.Arg1910=)
|
rs761647447
|
0.00001
|
NM_004006.3(DMD):c.5739+1G>T
|
rs886043041
|
0.00001
|
NM_004006.3(DMD):c.5739+8T>C
|
rs1321625981
|
0.00001
|
NM_004006.3(DMD):c.5740-9G>A
|
rs2097747738
|
0.00001
|
NM_004006.3(DMD):c.5741A>G (p.Glu1914Gly)
|
rs985546923
|
0.00001
|
NM_004006.3(DMD):c.5749C>T (p.Arg1917Trp)
|
rs763893272
|
0.00001
|
NM_004006.3(DMD):c.5750G>A (p.Arg1917Gln)
|
rs760528813
|
0.00001
|
NM_004006.3(DMD):c.5785G>C (p.Val1929Leu)
|
rs794729004
|
0.00001
|
NM_004006.3(DMD):c.5788C>T (p.Arg1930Cys)
|
rs1295144399
|
0.00001
|
NM_004006.3(DMD):c.581A>G (p.Gln194Arg)
|
rs1458091604
|
0.00001
|
NM_004006.3(DMD):c.5820G>T (p.Gly1940=)
|
rs1404360892
|
0.00001
|
NM_004006.3(DMD):c.5823C>T (p.Ala1941=)
|
rs2097747204
|
0.00001
|
NM_004006.3(DMD):c.5844T>C (p.Thr1948=)
|
rs1169477197
|
0.00001
|
NM_004006.3(DMD):c.5876T>C (p.Ile1959Thr)
|
rs1306182225
|
0.00001
|
NM_004006.3(DMD):c.5883C>A (p.Ser1961Arg)
|
rs1217612438
|
0.00001
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004006.3(DMD):c.5922+10T>C
|
rs1393140621
|
0.00001
|
NM_004006.3(DMD):c.5922+11A>C
|
rs1394206261
|
0.00001
|
NM_004006.3(DMD):c.5923-6T>C
|
rs747486367
|
0.00001
|
NM_004006.3(DMD):c.5923-7A>G
|
rs769161854
|
0.00001
|
NM_004006.3(DMD):c.5943G>A (p.Thr1981=)
|
rs757497844
|
0.00001
|
NM_004006.3(DMD):c.5946G>A (p.Met1982Ile)
|
rs1241760732
|
0.00001
|
NM_004006.3(DMD):c.5963A>G (p.Asp1988Gly)
|
rs754876601
|
0.00001
|
NM_004006.3(DMD):c.5964C>T (p.Asp1988=)
|
rs1057515869
|
0.00001
|
NM_004006.3(DMD):c.5968C>T (p.Pro1990Ser)
|
rs1343502927
|
0.00001
|
NM_004006.3(DMD):c.5969C>T (p.Pro1990Leu)
|
rs961227665
|
0.00001
|
NM_004006.3(DMD):c.597A>C (p.Ala199=)
|
rs918198867
|
0.00001
|
NM_004006.3(DMD):c.5986G>A (p.Val1996Met)
|
rs2097556758
|
0.00001
|
NM_004006.3(DMD):c.5991T>C (p.Pro1997=)
|
rs1005302771
|
0.00001
|
NM_004006.3(DMD):c.6028G>T (p.Ala2010Ser)
|
rs72468613
|
0.00001
|
NM_004006.3(DMD):c.602A>T (p.Asn201Ile)
|
rs1030277417
|
0.00001
|
NM_004006.3(DMD):c.6033A>G (p.Leu2011=)
|
rs772889861
|
0.00001
|
NM_004006.3(DMD):c.6083T>C (p.Phe2028Ser)
|
rs1289456469
|
0.00001
|
NM_004006.3(DMD):c.6092T>C (p.Leu2031Pro)
|
rs886043520
|
0.00001
|
NM_004006.3(DMD):c.6093C>T (p.Leu2031=)
|
rs745904383
|
0.00001
|
NM_004006.3(DMD):c.60A>G (p.Thr20=)
|
rs771449240
|
0.00001
|
NM_004006.3(DMD):c.6120T>A (p.Asn2040Lys)
|
rs1409711434
|
0.00001
|
NM_004006.3(DMD):c.6122T>C (p.Ile2041Thr)
|
rs749441036
|
0.00001
|
NM_004006.3(DMD):c.6138A>G (p.Gln2046=)
|
rs780018882
|
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.6170G>T (p.Ser2057Ile)
|
rs1269996314
|
0.00001
|
NM_004006.3(DMD):c.6173A>G (p.Lys2058Arg)
|
rs1326979286
|
0.00001
|
NM_004006.3(DMD):c.6194G>T (p.Ser2065Ile)
|
rs767872954
|
0.00001
|
NM_004006.3(DMD):c.6195T>C (p.Ser2065=)
|
rs398124006
|
0.00001
|
NM_004006.3(DMD):c.6196G>A (p.Ala2066Thr)
|
rs1468473458
|
0.00001
|
NM_004006.3(DMD):c.6200C>T (p.Thr2067Met)
|
rs1405599353
|
0.00001
|
NM_004006.3(DMD):c.6249C>T (p.Phe2083=)
|
rs2097447468
|
0.00001
|
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
|
rs398124008
|
0.00001
|
NM_004006.3(DMD):c.6285A>G (p.Arg2095=)
|
rs1047077632
|
0.00001
|
NM_004006.3(DMD):c.6290+10A>C
|
rs777347376
|
0.00001
|
NM_004006.3(DMD):c.6290+10A>G
|
rs777347376
|
0.00001
|
NM_004006.3(DMD):c.6387G>A (p.Lys2129=)
|
rs758768498
|
0.00001
|
NM_004006.3(DMD):c.6393A>G (p.Gln2131=)
|
rs970683629
|
0.00001
|
NM_004006.3(DMD):c.639C>T (p.Leu213=)
|
rs779201084
|
0.00001
|
NM_004006.3(DMD):c.6431A>T (p.Tyr2144Phe)
|
rs1569551376
|
0.00001
|
NM_004006.3(DMD):c.6436A>C (p.Lys2146Gln)
|
rs774219434
|
0.00001
|
NM_004006.3(DMD):c.6438+10T>C
|
rs754382994
|
0.00001
|
NM_004006.3(DMD):c.6439-4A>G
|
rs1057523900
|
0.00001
|
NM_004006.3(DMD):c.6439-7C>T
|
rs1351413255
|
0.00001
|
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)
|
rs767681834
|
0.00001
|
NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)
|
rs892121336
|
0.00001
|
NM_004006.3(DMD):c.6483A>G (p.Thr2161=)
|
rs776054222
|
0.00001
|
NM_004006.3(DMD):c.6494C>A (p.Thr2165Asn)
|
rs768712703
|
0.00001
|
NM_004006.3(DMD):c.650-7C>T
|
rs759997772
|
0.00001
|
NM_004006.3(DMD):c.650-8G>T
|
rs772590878
|
0.00001
|
NM_004006.3(DMD):c.6511C>A (p.Gln2171Lys)
|
rs1203447654
|
0.00001
|
NM_004006.3(DMD):c.6513G>A (p.Gln2171=)
|
rs746191492
|
0.00001
|
NM_004006.3(DMD):c.6516A>G (p.Gln2172=)
|
rs1285172878
|
0.00001
|
NM_004006.3(DMD):c.6537T>C (p.Ser2179=)
|
rs2095369975
|
0.00001
|
NM_004006.3(DMD):c.6549A>G (p.Glu2183=)
|
rs2095369871
|
0.00001
|
NM_004006.3(DMD):c.6553T>C (p.Leu2185=)
|
rs1326630806
|
0.00001
|
NM_004006.3(DMD):c.657T>A (p.Asp219Glu)
|
rs771312947
|
0.00001
|
NM_004006.3(DMD):c.6587G>T (p.Cys2196Phe)
|
rs767738542
|
0.00001
|
NM_004006.3(DMD):c.6604del (p.Arg2202fs)
|
rs2095369359
|
0.00001
|
NM_004006.3(DMD):c.6614+13A>T
|
rs72468603
|
0.00001
|
NM_004006.3(DMD):c.6614+4G>A
|
rs1475894426
|
0.00001
|
NM_004006.3(DMD):c.6614+6G>A
|
rs750175070
|
0.00001
|
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)
|
rs139937177
|
0.00001
|
NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser)
|
rs900089672
|
0.00001
|
NM_004006.3(DMD):c.6713T>C (p.Leu2238Pro)
|
rs1263279166
|
0.00001
|
NM_004006.3(DMD):c.6763-2A>G
|
rs398124033
|
0.00001
|
NM_004006.3(DMD):c.6778T>C (p.Leu2260=)
|
rs1176525732
|
0.00001
|
NM_004006.3(DMD):c.678G>A (p.Lys226=)
|
rs768132086
|
0.00001
|
NM_004006.3(DMD):c.682A>G (p.Ile228Val)
|
rs904314683
|
0.00001
|
NM_004006.3(DMD):c.6831G>A (p.Val2277=)
|
rs1383802449
|
0.00001
|
NM_004006.3(DMD):c.683T>A (p.Ile228Asn)
|
rs886043430
|
0.00001
|
NM_004006.3(DMD):c.6846C>T (p.Pro2282=)
|
rs1401270091
|
0.00001
|
NM_004006.3(DMD):c.6875A>G (p.Glu2292Gly)
|
rs770051396
|
0.00001
|
NM_004006.3(DMD):c.6891G>T (p.Gln2297His)
|
rs769249649
|
0.00001
|
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)
|
rs747055774
|
0.00001
|
NM_004006.3(DMD):c.6913-14T>C
|
rs777088003
|
0.00001
|
NM_004006.3(DMD):c.6913-9T>G
|
rs768998849
|
0.00001
|
NM_004006.3(DMD):c.6921A>G (p.Arg2307=)
|
rs756907565
|
0.00001
|
NM_004006.3(DMD):c.694A>C (p.Ile232Leu)
|
rs758447768
|
0.00001
|
NM_004006.3(DMD):c.6968T>C (p.Leu2323Pro)
|
rs747847667
|
0.00001
|
NM_004006.3(DMD):c.697A>G (p.Thr233Ala)
|
rs1429767974
|
0.00001
|
NM_004006.3(DMD):c.7008G>A (p.Gln2336=)
|
rs1352231346
|
0.00001
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_004006.3(DMD):c.7018C>A (p.Leu2340Met)
|
rs1189846429
|
0.00001
|
NM_004006.3(DMD):c.702A>C (p.Ser234=)
|
rs1350188088
|
0.00001
|
NM_004006.3(DMD):c.7035T>C (p.Ser2345=)
|
rs756961003
|
0.00001
|
NM_004006.3(DMD):c.7065C>A (p.Asn2355Lys)
|
rs759570455
|
0.00001
|
NM_004006.3(DMD):c.7083A>C (p.Gly2361=)
|
rs1397611369
|
0.00001
|
NM_004006.3(DMD):c.7093G>A (p.Val2365Ile)
|
rs746851176
|
0.00001
|
NM_004006.3(DMD):c.7112C>A (p.Ala2371Glu)
|
rs767961100
|
0.00001
|
NM_004006.3(DMD):c.711A>C (p.Gln237His)
|
rs778632674
|
0.00001
|
NM_004006.3(DMD):c.7124A>T (p.Lys2375Ile)
|
rs760048714
|
0.00001
|
NM_004006.3(DMD):c.7132G>A (p.Asp2378Asn)
|
rs1482902676
|
0.00001
|
NM_004006.3(DMD):c.7150T>C (p.Ser2384Pro)
|
rs1351313240
|
0.00001
|
NM_004006.3(DMD):c.7200+9G>A
|
rs748786108
|
0.00001
|
NM_004006.3(DMD):c.7235C>T (p.Ala2412Val)
|
rs771992420
|
0.00001
|
NM_004006.3(DMD):c.723A>G (p.Gln241=)
|
rs757071915
|
0.00001
|
NM_004006.3(DMD):c.7273C>T (p.Pro2425Ser)
|
rs1318139017
|
0.00001
|
NM_004006.3(DMD):c.7309+8T>C
|
rs751917131
|
0.00001
|
NM_004006.3(DMD):c.7309+9A>G
|
rs780560105
|
0.00001
|
NM_004006.3(DMD):c.7335G>A (p.Val2445=)
|
rs1329493987
|
0.00001
|
NM_004006.3(DMD):c.7338A>G (p.Thr2446=)
|
rs768213981
|
0.00001
|
NM_004006.3(DMD):c.7341A>G (p.Gln2447=)
|
rs780354773
|
0.00001
|
NM_004006.3(DMD):c.7348G>C (p.Val2450Leu)
|
rs1348131883
|
0.00001
|
NM_004006.3(DMD):c.7375C>G (p.Leu2459Val)
|
rs867040444
|
0.00001
|
NM_004006.3(DMD):c.7386A>G (p.Pro2462=)
|
rs746360525
|
0.00001
|
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr)
|
rs764330616
|
0.00001
|
NM_004006.3(DMD):c.739G>A (p.Ala247Thr)
|
rs1468818043
|
0.00001
|
NM_004006.3(DMD):c.740C>G (p.Ala247Gly)
|
rs767559999
|
0.00001
|
NM_004006.3(DMD):c.7430G>A (p.Arg2477Gln)
|
rs764340452
|
0.00001
|
NM_004006.3(DMD):c.7490G>T (p.Arg2497Met)
|
rs1312256471
|
0.00001
|
NM_004006.3(DMD):c.7494G>A (p.Val2498=)
|
rs939673895
|
0.00001
|
NM_004006.3(DMD):c.7499T>C (p.Val2500Ala)
|
rs867197764
|
0.00001
|
NM_004006.3(DMD):c.74T>C (p.Val25Ala)
|
rs886039061
|
0.00001
|
NM_004006.3(DMD):c.7501G>T (p.Gly2501Cys)
|
rs1240812601
|
0.00001
|
NM_004006.3(DMD):c.7542+10A>G
|
rs398124046
|
0.00001
|
NM_004006.3(DMD):c.7543-15T>C
|
rs1261569690
|
0.00001
|
NM_004006.3(DMD):c.7543-19G>A
|
rs398124048
|
0.00001
|
NM_004006.3(DMD):c.7543-7C>T
|
rs184574404
|
0.00001
|
NM_004006.3(DMD):c.7561G>A (p.Glu2521Lys)
|
rs1569308250
|
0.00001
|
NM_004006.3(DMD):c.7570C>T (p.Arg2524Cys)
|
rs886043732
|
0.00001
|
NM_004006.3(DMD):c.7579T>C (p.Leu2527=)
|
rs1183323125
|
0.00001
|
NM_004006.3(DMD):c.7597G>A (p.Ala2533Thr)
|
rs369583884
|
0.00001
|
NM_004006.3(DMD):c.7620G>A (p.Lys2540=)
|
rs1331437410
|
0.00001
|
NM_004006.3(DMD):c.7652C>T (p.Thr2551Met)
|
rs778691311
|
0.00001
|
NM_004006.3(DMD):c.7660+15A>G
|
rs876657452
|
0.00001
|
NM_004006.3(DMD):c.7661-4C>T
|
rs1208623169
|
0.00001
|
NM_004006.3(DMD):c.769C>T (p.Pro257Ser)
|
rs1305908922
|
0.00001
|
NM_004006.3(DMD):c.7783G>T (p.Val2595Phe)
|
rs1254164861
|
0.00001
|
NM_004006.3(DMD):c.7795G>A (p.Ala2599Thr)
|
rs1569220550
|
0.00001
|
NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)
|
rs747127624
|
0.00001
|
NM_004006.3(DMD):c.783T>G (p.Thr261=)
|
rs766726174
|
0.00001
|
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)
|
rs972664841
|
0.00001
|
NM_004006.3(DMD):c.7863A>G (p.Thr2621=)
|
rs777640637
|
0.00001
|
NM_004006.3(DMD):c.7872+13G>A
|
rs1569220234
|
0.00001
|
NM_004006.3(DMD):c.7873-4A>G
|
rs760693222
|
0.00001
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
NM_004006.3(DMD):c.7932C>T (p.Ala2644=)
|
rs1306571967
|
0.00001
|
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)
|
rs757902182
|
0.00001
|
NM_004006.3(DMD):c.7962T>C (p.Asp2654=)
|
rs374433647
|
0.00001
|
NM_004006.3(DMD):c.7969A>C (p.Arg2657=)
|
rs778467350
|
0.00001
|
NM_004006.3(DMD):c.7981A>G (p.Met2661Val)
|
rs764521635
|
0.00001
|
NM_004006.3(DMD):c.7992G>A (p.Glu2664=)
|
rs1402602960
|
0.00001
|
NM_004006.3(DMD):c.7993A>G (p.Asn2665Asp)
|
rs767634310
|
0.00001
|
NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser)
|
rs371437381
|
0.00001
|
NM_004006.3(DMD):c.8001T>C (p.Asn2667=)
|
rs1395638836
|
0.00001
|
NM_004006.3(DMD):c.8028G>A (p.Arg2676=)
|
rs1237546420
|
0.00001
|
NM_004006.3(DMD):c.8063A>G (p.His2688Arg)
|
rs1017255301
|
0.00001
|
NM_004006.3(DMD):c.8072T>C (p.Leu2691Pro)
|
rs748485762
|
0.00001
|
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)
|
rs755445214
|
0.00001
|
NM_004006.3(DMD):c.80C>T (p.Ala27Val)
|
rs763407275
|
0.00001
|
NM_004006.3(DMD):c.8129C>G (p.Thr2710Arg)
|
rs2078922316
|
0.00001
|
NM_004006.3(DMD):c.8130A>G (p.Thr2710=)
|
rs1603430185
|
0.00001
|
NM_004006.3(DMD):c.8137A>G (p.Asn2713Asp)
|
rs766553671
|
0.00001
|
NM_004006.3(DMD):c.8140G>A (p.Val2714Ile)
|
rs1231632354
|
0.00001
|
NM_004006.3(DMD):c.8157C>G (p.Thr2719=)
|
rs1487090734
|
0.00001
|
NM_004006.3(DMD):c.8158C>T (p.Arg2720Cys)
|
rs375657730
|
0.00001
|
NM_004006.3(DMD):c.8169G>A (p.Arg2723=)
|
rs1569139778
|
0.00001
|
NM_004006.3(DMD):c.8173C>T (p.Leu2725=)
|
rs1292153681
|
0.00001
|
NM_004006.3(DMD):c.8175A>G (p.Leu2725=)
|
rs1569139704
|
0.00001
|
NM_004006.3(DMD):c.8181C>T (p.Asp2727=)
|
rs767417979
|
0.00001
|
NM_004006.3(DMD):c.8273A>T (p.Asn2758Ile)
|
rs1298733875
|
0.00001
|
NM_004006.3(DMD):c.8280A>G (p.Gln2760=)
|
rs1261007995
|
0.00001
|
NM_004006.3(DMD):c.8284A>G (p.Ile2762Val)
|
rs1050053654
|
0.00001
|
NM_004006.3(DMD):c.8296C>T (p.Leu2766=)
|
rs751387739
|
0.00001
|
NM_004006.3(DMD):c.82C>G (p.Gln28Glu)
|
rs1477536019
|
0.00001
|
NM_004006.3(DMD):c.831+5A>C
|
rs757088996
|
0.00001
|
NM_004006.3(DMD):c.831+9T>G
|
rs777394873
|
0.00001
|
NM_004006.3(DMD):c.832-11C>T
|
rs755144083
|
0.00001
|
NM_004006.3(DMD):c.832-3C>T
|
rs777492476
|
0.00001
|
NM_004006.3(DMD):c.8355G>A (p.Lys2785=)
|
rs772646759
|
0.00001
|
NM_004006.3(DMD):c.8368C>T (p.Arg2790Trp)
|
rs398124069
|
0.00001
|
NM_004006.3(DMD):c.836C>T (p.Thr279Met)
|
rs369135184
|
0.00001
|
NM_004006.3(DMD):c.8376G>A (p.Lys2792=)
|
rs779605822
|
0.00001
|
NM_004006.3(DMD):c.8385C>T (p.Asn2795=)
|
rs1158695925
|
0.00001
|
NM_004006.3(DMD):c.839T>A (p.Val280Asp)
|
rs1160682035
|
0.00001
|
NM_004006.3(DMD):c.840C>T (p.Val280=)
|
rs752509961
|
0.00001
|
NM_004006.3(DMD):c.8417A>G (p.Gln2806Arg)
|
rs183999778
|
0.00001
|
NM_004006.3(DMD):c.8418G>A (p.Gln2806=)
|
rs953271494
|
0.00001
|
NM_004006.3(DMD):c.8476G>C (p.Asp2826His)
|
rs778675531
|
0.00001
|
NM_004006.3(DMD):c.8488C>T (p.Arg2830Trp)
|
rs1569547242
|
0.00001
|
NM_004006.3(DMD):c.848C>T (p.Ala283Val)
|
rs754197682
|
0.00001
|
NM_004006.3(DMD):c.8493G>A (p.Gln2831=)
|
rs1054990280
|
0.00001
|
NM_004006.3(DMD):c.8502T>C (p.Ile2834=)
|
rs1002021681
|
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.8514T>C (p.Phe2838=)
|
rs1438909747
|
0.00001
|
NM_004006.3(DMD):c.8526G>C (p.Gln2842His)
|
rs1281466006
|
0.00001
|
NM_004006.3(DMD):c.8538T>C (p.Asp2846=)
|
rs1337601535
|
0.00001
|
NM_004006.3(DMD):c.8547+20C>T
|
rs769832277
|
0.00001
|
NM_004006.3(DMD):c.8547+8A>G
|
rs1369777872
|
0.00001
|
NM_004006.3(DMD):c.8548-15C>T
|
rs752290681
|
0.00001
|
NM_004006.3(DMD):c.8553C>T (p.Phe2851=)
|
rs751229272
|
0.00001
|
NM_004006.3(DMD):c.855A>T (p.Gly285=)
|
rs1255558960
|
0.00001
|
NM_004006.3(DMD):c.8581G>A (p.Val2861Ile)
|
rs768803843
|
0.00001
|
NM_004006.3(DMD):c.8605G>C (p.Val2869Leu)
|
rs2068037888
|
0.00001
|
NM_004006.3(DMD):c.860A>C (p.Glu287Ala)
|
rs1485322486
|
0.00001
|
NM_004006.3(DMD):c.8617C>G (p.Leu2873Val)
|
rs2068037393
|
0.00001
|
NM_004006.3(DMD):c.861G>A (p.Glu287=)
|
rs1284806719
|
0.00001
|
NM_004006.3(DMD):c.8628G>C (p.Gln2876His)
|
rs777817144
|
0.00001
|
NM_004006.3(DMD):c.8649A>G (p.Lys2883=)
|
rs780837172
|
0.00001
|
NM_004006.3(DMD):c.8669-7A>G
|
rs369638839
|
0.00001
|
NM_004006.3(DMD):c.8673G>C (p.Leu2891=)
|
rs1032573101
|
0.00001
|
NM_004006.3(DMD):c.8676T>C (p.Pro2892=)
|
rs757989996
|
0.00001
|
NM_004006.3(DMD):c.8694G>A (p.Gln2898=)
|
rs1162683398
|
0.00001
|
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp)
|
rs1188233243
|
0.00001
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
NM_004006.3(DMD):c.8714G>A (p.Arg2905Gln)
|
rs267606433
|
0.00001
|
NM_004006.3(DMD):c.8735A>G (p.Asn2912Ser)
|
rs1227226131
|
0.00001
|
NM_004006.3(DMD):c.8745G>T (p.Trp2915Cys)
|
rs761750882
|
0.00001
|
NM_004006.3(DMD):c.8768C>G (p.Ala2923Gly)
|
rs1171983817
|
0.00001
|
NM_004006.3(DMD):c.876T>A (p.Pro292=)
|
rs775261545
|
0.00001
|
NM_004006.3(DMD):c.877A>G (p.Lys293Glu)
|
rs960307751
|
0.00001
|
NM_004006.3(DMD):c.8786T>C (p.Ile2929Thr)
|
rs1181907562
|
0.00001
|
NM_004006.3(DMD):c.8806C>T (p.Leu2936Phe)
|
rs146517753
|
0.00001
|
NM_004006.3(DMD):c.8808C>T (p.Leu2936=)
|
rs144147061
|
0.00001
|
NM_004006.3(DMD):c.8836C>T (p.Leu2946=)
|
rs776570515
|
0.00001
|
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)
|
rs185664502
|
0.00001
|
NM_004006.3(DMD):c.8858C>A (p.Ala2953Asp)
|
rs773941387
|
0.00001
|
NM_004006.3(DMD):c.885A>T (p.Arg295=)
|
rs1290943376
|
0.00001
|
NM_004006.3(DMD):c.8865G>A (p.Val2955=)
|
rs374478841
|
0.00001
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
NM_004006.3(DMD):c.8887G>A (p.Val2963Met)
|
rs756567967
|
0.00001
|
NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)
|
rs755061434
|
0.00001
|
NM_004006.3(DMD):c.8913C>T (p.Leu2971=)
|
rs780354925
|
0.00001
|
NM_004006.3(DMD):c.8937+10A>C
|
rs773865736
|
0.00001
|
NM_004006.3(DMD):c.8937+10A>T
|
rs773865736
|
0.00001
|
NM_004006.3(DMD):c.8937+11C>T
|
rs1426517820
|
0.00001
|
NM_004006.3(DMD):c.8937+6G>A
|
rs767509893
|
0.00001
|
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln)
|
rs750579766
|
0.00001
|
NM_004006.3(DMD):c.894C>T (p.Ser298=)
|
rs763011155
|
0.00001
|
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)
|
rs762577093
|
0.00001
|
NM_004006.3(DMD):c.8997T>C (p.Ala2999=)
|
rs1470235199
|
0.00001
|
NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu)
|
rs143925896
|
0.00001
|
NM_004006.3(DMD):c.9051G>A (p.Leu3017=)
|
rs772255929
|
0.00001
|
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)
|
rs778961643
|
0.00001
|
NM_004006.3(DMD):c.9140C>T (p.Pro3047Leu)
|
rs1303381637
|
0.00001
|
NM_004006.3(DMD):c.9164-12C>A
|
rs767830254
|
0.00001
|
NM_004006.3(DMD):c.9164-17T>C
|
rs1419037992
|
0.00001
|
NM_004006.3(DMD):c.918T>C (p.Tyr306=)
|
rs149106712
|
0.00001
|
NM_004006.3(DMD):c.9225-8T>C
|
rs1307721844
|
0.00001
|
NM_004006.3(DMD):c.9225-9G>T
|
rs765266683
|
0.00001
|
NM_004006.3(DMD):c.9282T>C (p.Ser3094=)
|
rs1182774000
|
0.00001
|
NM_004006.3(DMD):c.9286+9A>G
|
rs1204013703
|
0.00001
|
NM_004006.3(DMD):c.9291C>T (p.Asp3097=)
|
rs796934165
|
0.00001
|
NM_004006.3(DMD):c.930T>C (p.Ser310=)
|
rs779577176
|
0.00001
|
NM_004006.3(DMD):c.9328A>G (p.Met3110Val)
|
rs1381984529
|
0.00001
|
NM_004006.3(DMD):c.9361+8T>C
|
rs768282679
|
0.00001
|
NM_004006.3(DMD):c.9361+9T>C
|
rs746607414
|
0.00001
|
NM_004006.3(DMD):c.9387A>G (p.Ala3129=)
|
rs767883773
|
0.00001
|
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly)
|
rs932848232
|
0.00001
|
NM_004006.3(DMD):c.9390T>C (p.Cys3130=)
|
rs1057523643
|
0.00001
|
NM_004006.3(DMD):c.94-19G>A
|
rs755925498
|
0.00001
|
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys)
|
rs779233737
|
0.00001
|
NM_004006.3(DMD):c.9483G>A (p.Leu3161=)
|
rs749737691
|
0.00001
|
NM_004006.3(DMD):c.9522C>T (p.Cys3174=)
|
rs765096423
|
0.00001
|
NM_004006.3(DMD):c.9525G>A (p.Val3175=)
|
rs1060502622
|
0.00001
|
NM_004006.3(DMD):c.9563+10G>T
|
rs1309532865
|
0.00001
|
NM_004006.3(DMD):c.9563+7A>G
|
rs1291131709
|
0.00001
|
NM_004006.3(DMD):c.9564-7A>G
|
rs1162179227
|
0.00001
|
NM_004006.3(DMD):c.9621T>C (p.Cys3207=)
|
rs1057524037
|
0.00001
|
NM_004006.3(DMD):c.9642G>C (p.Lys3214Asn)
|
rs1341389139
|
0.00001
|
NM_004006.3(DMD):c.9650-18T>A
|
rs1229708971
|
0.00001
|
NM_004006.3(DMD):c.9651C>T (p.Tyr3217=)
|
rs1313897024
|
0.00001
|
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)
|
rs1319200626
|
0.00001
|
NM_004006.3(DMD):c.9690C>T (p.Asp3230=)
|
rs767474138
|
0.00001
|
NM_004006.3(DMD):c.9694C>T (p.Arg3232Cys)
|
rs145030353
|
0.00001
|
NM_004006.3(DMD):c.969A>T (p.Glu323Asp)
|
rs774626343
|
0.00001
|
NM_004006.3(DMD):c.978A>G (p.Glu326=)
|
rs778154286
|
0.00001
|
NM_004006.3(DMD):c.9790C>T (p.Arg3264Trp)
|
rs373448002
|
0.00001
|
NM_004006.3(DMD):c.9791G>A (p.Arg3264Gln)
|
rs796102824
|
0.00001
|
NM_004006.3(DMD):c.9808-10G>A
|
rs1060504674
|
0.00001
|
NM_004006.3(DMD):c.981C>G (p.Asp327Glu)
|
rs1017929989
|
0.00001
|
NM_004006.3(DMD):c.9828C>T (p.Ile3276=)
|
rs757899883
|
0.00001
|
NM_004006.3(DMD):c.984G>T (p.Lys328Asn)
|
rs1278090805
|
0.00001
|
NM_004006.3(DMD):c.9874A>G (p.Met3292Val)
|
rs886042871
|
0.00001
|
NM_004006.3(DMD):c.9879G>A (p.Val3293=)
|
rs970320801
|
0.00001
|
NM_004006.3(DMD):c.993C>A (p.Gly331=)
|
rs1214861321
|
0.00001
|
NM_004006.3(DMD):c.9945C>T (p.Ile3315=)
|
rs1164625872
|
0.00001
|
NM_004006.3(DMD):c.9985C>T (p.Leu3329=)
|
rs898179653
|
0.00001
|
NM_004006.3(DMD):c.999A>G (p.Ser333=)
|
rs748489730
|
0.00001
|
NC_000023.10:g.(?_31139930)_(31140067_?)dup
|
|
|
NC_000023.10:g.(?_31139940)_33229483del
|
|
|
NC_000023.10:g.(?_31140030)_(33229435_?)del
|
|
|
NC_000023.10:g.(?_31140036)_(31152331_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31165655_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31201041_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31227836_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31241258_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31279781_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31341795_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31366771_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31525580_?)del
|
|
|
NC_000023.10:g.(?_31140036)_(31525590_?)del
|
|
|
NC_000023.10:g.(?_31140036)_(31525590_?)dup
|
|
|
NC_000023.10:g.(?_31140036)_(31854956_?)del
|
|
|
NC_000023.10:g.(?_31140036)_(32235190_?)del
|
|
|
NC_000023.10:g.(?_31140036)_(32519979_?)del
|
|
|
NC_000023.10:g.(?_31140036)_(33229429_?)del
|
|
|
NC_000023.10:g.(?_31152199)_(31241258_?)dup
|
|
|
NC_000023.10:g.(?_31164388)_(31165655_?)del
|
|
|
NC_000023.10:g.(?_31164398)_(31986641_?)del
|
|
|
NC_000023.10:g.(?_31164402)_(31697709_?)del
|
|
|
NC_000023.10:g.(?_31171146)_(31227760_?)del
|
|
|
NC_000023.10:g.(?_31187540)_(31366771_?)dup
|
|
|
NC_000023.10:g.(?_31187540)_(31382270_?)dup
|
|
|
NC_000023.10:g.(?_31196029)_(31201041_?)dup
|
|
|
NC_000023.10:g.(?_31196029)_(31525590_?)del
|
|
|
NC_000023.10:g.(?_31196029)_(31525590_?)dup
|
|
|
NC_000023.10:g.(?_31196039)_(31196097_?)del
|
|
|
NC_000023.10:g.(?_31196766)_(31229031_?)del
|
|
|
NC_000023.10:g.(?_31196766)_(31241258_?)dup
|
|
|
NC_000023.10:g.(?_31219364)_(31497240_?)dup
|
|
|
NC_000023.10:g.(?_31219364)_(33229429_?)del
|
|
|
NC_000023.10:g.(?_31222058)_(31222255_?)del
|
|
|
NC_000023.10:g.(?_31222058)_(31227836_?)del
|
|
|
NC_000023.10:g.(?_31222058)_(31279781_?)del
|
|
|
NC_000023.10:g.(?_31222058)_(31986651_?)dup
|
|
|
NC_000023.10:g.(?_31222068)_(31341785_?)dup
|
|
|
NC_000023.10:g.(?_31222068)_(31382270_?)dup
|
|
|
NC_000023.10:g.(?_31222068)_(31854946_?)del
|
|
|
NC_000023.10:g.(?_31222078)_(31241238_?)dup
|
|
|
NC_000023.10:g.(?_31223726)_(31224733_?)del
|
|
|
NC_000023.10:g.(?_31227595)_(31627738_?)dup
|
|
|
NC_000023.10:g.(?_31227595)_(31676281_?)dup
|
|
|
NC_000023.10:g.(?_31227595)_(33229429_?)del
|
|
|
NC_000023.10:g.(?_31241144)_(31241258_?)dup
|
|
|
NC_000023.10:g.(?_31241144)_(31279781_?)del
|
|
|
NC_000023.10:g.(?_31241144)_(31525590_?)dup
|
|
|
NC_000023.10:g.(?_31241144)_(31676281_?)dup
|
|
|
NC_000023.10:g.(?_31241144)_(32398817_?)dup
|
|
|
NC_000023.10:g.(?_31241144)_(33229429_?)del
|
|
|
NC_000023.10:g.(?_31241154)_(31525580_?)dup
|
|
|
NC_000023.10:g.(?_31279052)_(31279153_?)del
|
|
|
NC_000023.10:g.(?_31279052)_(31366771_?)del
|
|
|
NC_000023.10:g.(?_31279052)_(31497240_?)del
|
|
|
NC_000023.10:g.(?_31279052)_(31525590_?)dup
|
|
|
NC_000023.10:g.(?_31279052)_(31854956_?)del
|
|
|
NC_000023.10:g.(?_31332523)_(31462764_?)del
|
|
|
NC_000023.10:g.(?_31332523)_(31462764_?)dup
|
|
|
NC_000023.10:g.(?_31332523)_(31497240_?)del
|
|
|
NC_000023.10:g.(?_31332523)_(31525580_?)del
|
|
|
NC_000023.10:g.(?_31332523)_(31525580_?)dup
|
|
|
NC_000023.10:g.(?_31332523)_(31526374_?)dup
|
|
|
NC_000023.10:g.(?_31332523)_(31627738_?)dup
|
|
|
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NC_000023.10:g.(?_31462588)_31697713dup
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NC_000023.10:g.(?_31613687)_31986641dup
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NC_000023.10:g.(?_32404417)_(32663279_?)del
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NC_000023.10:g.(?_32407598)_(32519979_?)del
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NC_000023.10:g.(?_32407608)_(32717420_?)dup
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NC_000023.10:g.(?_32429849)_(32430050_?)del
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NC_000023.10:g.(?_32429849)_(32430346_?)dup
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NC_000023.10:g.(?_32429849)_(32614013_?)del
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NC_000023.10:g.(?_32429849)_(32841524_?)del
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NC_000023.10:g.(?_32429849)_(32867957_?)dup
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NC_000023.10:g.(?_32429849)_(33038337_?)dup
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NC_000023.10:g.(?_32429849)_(33229429_?)del
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NC_000023.10:g.(?_32429859)_(32536258_?)dup
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NC_000023.10:g.(?_32429859)_(32563461_?)del
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NC_000023.10:g.(?_32429859)_(32862987_?)del
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NC_000023.10:g.(?_32429859)_32663279del
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NC_000023.10:g.(?_32429863)_(32867943_?)del
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NC_000023.10:g.(?_32456338)_(32490446_?)del
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NC_000023.10:g.(?_32456338)_(32509655_?)del
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NC_000023.10:g.(?_32456338)_(32519979_?)dup
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NC_000023.10:g.(?_32456338)_(32756908_?)dup
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NC_000023.10:g.(?_32456338)_(33038337_?)del
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NC_000023.10:g.(?_32456338)_(33229429_?)dup
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NC_000023.10:g.(?_32456348)_(32490436_?)dup
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NC_000023.10:g.(?_32456348)_(32563461_?)del
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NC_000023.10:g.(?_32456348)_(32614003_?)del
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NC_000023.10:g.(?_32456348)_(32632580_?)del
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NC_000023.10:g.(?_32456348)_(32663279_?)del
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NC_000023.10:g.(?_32456348)_(32841534_?)dup
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NC_000023.10:g.(?_32456431)_(32487970_?)del
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NC_000023.10:g.(?_32466553)_(32472969_?)del
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NC_000023.10:g.(?_32466553)_(32519979_?)dup
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NC_000023.10:g.(?_32466553)_(32632590_?)del
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NC_000023.10:g.(?_32466553)_(32663289_?)dup
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NC_000023.10:g.(?_32466553)_(32717430_?)del
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NC_000023.10:g.(?_32466553)_(32867957_?)del
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NC_000023.10:g.(?_32472759)_(32584018_?)dup
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NC_000023.10:g.(?_32472759)_(32663289_?)del
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NC_000023.10:g.(?_32472769)_(32536267_?)dup
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NC_000023.10:g.(?_32479316)_(32486837_?)del
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NC_000023.10:g.(?_32479316)_(32827748_?)del
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NC_000023.10:g.(?_32481536)_(32509655_?)dup
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NC_000023.10:g.(?_32481536)_(32536268_?)del
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NC_000023.10:g.(?_32481536)_(32563471_?)del
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NC_000023.10:g.(?_32481536)_(32663289_?)dup
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NC_000023.10:g.(?_32481536)_(32841524_?)del
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NC_000023.10:g.(?_32481556)_(32509635_?)dup
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NC_000023.10:g.(?_32482693)_(32563461_?)del
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NC_000023.10:g.(?_32482693)_(33038327_?)dup
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NC_000023.10:g.(?_32486595)_(32486847_?)del
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NC_000023.10:g.(?_32486595)_(32490446_?)dup
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NC_000023.10:g.(?_32486595)_(32509655_?)dup
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NC_000023.10:g.(?_32486595)_(32584018_?)dup
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NC_000023.10:g.(?_32486595)_(32663289_?)del
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NC_000023.10:g.(?_32503016)_(32503236_?)dup
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NC_000023.10:g.(?_32503016)_(32536268_?)del
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NC_000023.10:g.(?_32503016)_(32536268_?)dup
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NC_000023.10:g.(?_32503016)_(32563471_?)del
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NC_000023.10:g.(?_32503016)_(32632590_?)dup
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NC_000023.10:g.(?_32503016)_(32756908_?)del
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NC_000023.10:g.(?_32503016)_(32867957_?)dup
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NC_000023.10:g.(?_32503026)_(32717420_?)del
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NC_000023.10:g.(?_32509374)_(32509655_?)dup
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NC_000023.10:g.(?_32509374)_(32536268_?)dup
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NC_000023.10:g.(?_32519852)_(32536268_?)del
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NC_000023.10:g.(?_32519852)_(32563471_?)del
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NC_000023.10:g.(?_32519852)_(32632590_?)dup
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NC_000023.10:g.(?_32536105)_(32834777_?)del
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NC_000023.10:g.(?_32563256)_(32563471_?)dup
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NC_000023.10:g.(?_32563256)_(32591983_?)dup
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NC_000023.10:g.(?_32563266)_(32717420_?)del
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NC_000023.10:g.(?_32591627)_(32717430_?)dup
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NC_000023.10:g.(?_32591637)_(32717420_?)del
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NC_000023.10:g.(?_32591637)_(32867947_?)dup
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NC_000023.10:g.(?_32600728)_(32632590_?)dup
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NC_000023.10:g.(?_32613864)_(32717420_?)dup
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NC_000023.10:g.(?_32613864)_(32841514_?)dup
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NC_000023.10:g.(?_32632400)_(32632590_?)dup
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NC_000023.10:g.(?_32632400)_(32717430_?)dup
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NC_000023.10:g.(?_32632400)_(32841524_?)dup
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NC_000023.10:g.(?_32662229)_(32669194_?)dup
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NC_000023.10:g.(?_32662239)_(32717420_?)dup
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NC_000023.10:g.(?_32715967)_(33038337_?)dup
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NC_000023.10:g.(?_32715967)_(33146302_?)dup
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NC_000023.10:g.(?_33192452)_(33357402_?)dup
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NC_000023.11:g.(?_31679365)_(31679596_?)del
|
|
|
NC_000023.11:g.(?_31679365)_(31679596_?)dup
|
|
|
NC_000023.11:g.(?_31679365)_(31729758_?)del
|
|
|
NC_000023.11:g.(?_31679365)_(31836829_?)del
|
|
|
NC_000023.11:g.(?_31679365)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31679365)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31729611)_(31774212_?)del
|
|
|
NC_000023.11:g.(?_31729621)_(31729758_?)del
|
|
|
NC_000023.11:g.(?_31729621)_(31729758_?)dup
|
|
|
NC_000023.11:g.(?_31729621)_(31774202_?)del
|
|
|
NC_000023.11:g.(?_31729621)_(31820093_?)del
|
|
|
NC_000023.11:g.(?_31729621)_(31820093_?)dup
|
|
|
NC_000023.11:g.(?_31729621)_(31836829_?)del
|
|
|
NC_000023.11:g.(?_31729621)_(31879410_?)del
|
|
|
NC_000023.11:g.(?_31729621)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31729625)_(31774198_?)del
|
|
|
NC_000023.11:g.(?_31729631)_(31729748_?)del
|
|
|
NC_000023.11:g.(?_31729631)_(31774192_?)del
|
|
|
NC_000023.11:g.(?_31729631)_(31820083_?)del
|
|
|
NC_000023.11:g.(?_31729631)_(31932227_?)del
|
|
|
NC_000023.11:g.(?_31773950)_(31774202_?)del
|
|
|
NC_000023.11:g.(?_31773950)_(31820093_?)dup
|
|
|
NC_000023.11:g.(?_31773950)_(31836829_?)del
|
|
|
NC_000023.11:g.(?_31773950)_(31875383_?)del
|
|
|
NC_000023.11:g.(?_31773950)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31773950)_(31932237_?)dup
|
|
|
NC_000023.11:g.(?_31773950)_(31968524_?)dup
|
|
|
NC_000023.11:g.(?_31773950)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_31773960)_(31774192_?)del
|
|
|
NC_000023.11:g.(?_31773960)_(31836819_?)del
|
|
|
NC_000023.11:g.(?_31819955)_(31820103_?)del
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|
|
NC_000023.11:g.(?_31819965)_(31820093_?)del
|
|
|
NC_000023.11:g.(?_31819965)_(31836829_?)del
|
|
|
NC_000023.11:g.(?_31819965)_(31875383_?)del
|
|
|
NC_000023.11:g.(?_31819965)_(31965029_?)del
|
|
|
NC_000023.11:g.(?_31819975)_(31836819_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31836829_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31965029_?)del
|
|
|
NC_000023.11:g.(?_31836708)_(31968524_?)dup
|
|
|
NC_000023.11:g.(?_31836708)_(32310286_?)dup
|
|
|
NC_000023.11:g.(?_31836718)_(31875373_?)del
|
|
|
NC_000023.11:g.(?_31875168)_(31875393_?)del
|
|
|
NC_000023.11:g.(?_31875168)_(31932247_?)del
|
|
|
NC_000023.11:g.(?_31875168)_(31968534_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(31879410_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(32217073_?)del
|
|
|
NC_000023.11:g.(?_31875178)_(32217073_?)dup
|
|
|
NC_000023.11:g.(?_31879410)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31879410)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31929586)_(31929755_?)del
|
|
|
NC_000023.11:g.(?_31929586)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31929586)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31929586)_(32545344_?)dup
|
|
|
NC_000023.11:g.(?_31929590)_(31968520_?)del
|
|
|
NC_000023.11:g.(?_31932060)_(31932247_?)del
|
|
|
NC_000023.11:g.(?_31932060)_(31968534_?)del
|
|
|
NC_000023.11:g.(?_31932070)_(31932237_?)del
|
|
|
NC_000023.11:g.(?_31965029)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31965029)_(32614463_?)del
|
|
|
NC_000023.11:g.(?_31968329)_(31968524_?)del
|
|
|
NC_000023.11:g.(?_31968339)_(31968514_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32217083_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32454852_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32472329_?)del
|
|
|
NC_000023.11:g.(?_32216896)_(32501862_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32217073_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32217073_?)dup
|
|
|
NC_000023.11:g.(?_32216906)_(32287711_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32412219_?)dup
|
|
|
NC_000023.11:g.(?_32216906)_(32442157_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32442157_?)dup
|
|
|
NC_000023.11:g.(?_32216906)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32614463_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(32699303_?)del
|
|
|
NC_000023.11:g.(?_32216906)_(33211366_?)del
|
|
|
NC_000023.11:g.(?_32287509)_(32287721_?)del
|
|
|
NC_000023.11:g.(?_32287509)_(32362978_?)del
|
|
|
NC_000023.11:g.(?_32287509)_(32390201_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32287711_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32310286_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32310286_?)dup
|
|
|
NC_000023.11:g.(?_32287519)_(32343296_?)dup
|
|
|
NC_000023.11:g.(?_32287519)_(32365209_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32386475_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32287519)_(32849830_?)dup
|
|
|
NC_000023.11:g.(?_32287529)_(32310276_?)del
|
|
|
NC_000023.11:g.(?_32310072)_(32310286_?)dup
|
|
|
NC_000023.11:g.(?_32310072)_(32454842_?)del
|
|
|
NC_000023.11:g.(?_32310072)_(32518150_?)dup
|
|
|
NC_000023.11:g.(?_32342080)_(32518151_?)del
|
|
|
NC_000023.11:g.(?_32342090)_(32699303_?)dup
|
|
|
NC_000023.11:g.(?_32342090)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32348386)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_32362768)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_32380500)_(32699303_?)del
|
|
|
NC_000023.11:g.(?_32380500)_(32816650_?)del
|
|
|
NC_000023.11:g.(?_32390061)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32411732)_(32573866_?)del
|
|
|
NC_000023.11:g.(?_32411742)_(32472319_?)del
|
|
|
NC_000023.11:g.(?_32411742)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32438221)_(32518151_?)del
|
|
|
NC_000023.11:g.(?_32438231)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32438241)_(32491518_?)del
|
|
|
NC_000023.11:g.(?_32442157)_(32565891_?)dup
|
|
|
NC_000023.11:g.(?_32448446)_(32565891_?)dup
|
|
|
NC_000023.11:g.(?_32452609)_(32699303_?)del
|
|
|
NC_000023.11:g.(?_32454652)_(32699303_?)dup
|
|
|
NC_000023.11:g.(?_32461199)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32461199)_(32844870_?)del
|
|
|
NC_000023.11:g.(?_32461199)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32468488)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32472154)_(32472319_?)dup
|
|
|
NC_000023.11:g.(?_32484909)_(32501852_?)del
|
|
|
NC_000023.11:g.(?_32491267)_(32518150_?)dup
|
|
|
NC_000023.11:g.(?_32491267)_(32545344_?)del
|
|
|
NC_000023.11:g.(?_32501735)_(32501862_?)del
|
|
|
NC_000023.11:g.(?_32501745)_(32501852_?)del
|
|
|
NC_000023.11:g.(?_32501745)_(32501852_?)dup
|
|
|
NC_000023.11:g.(?_32517988)_(32518151_?)del
|
|
|
NC_000023.11:g.(?_32517998)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32518008)_(32699293_?)del
|
|
|
NC_000023.11:g.(?_32545139)_(32645172_?)del
|
|
|
NC_000023.11:g.(?_32545149)_(32573856_?)dup
|
|
|
NC_000023.11:g.(?_32565692)_(32626362_?)del
|
|
|
NC_000023.11:g.(?_32573520)_(32573856_?)del
|
|
|
NC_000023.11:g.(?_32573520)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32595737)_(32595896_?)del
|
|
|
NC_000023.11:g.(?_32595747)_(32595886_?)del
|
|
|
NC_000023.11:g.(?_32595747)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32614283)_(32645172_?)del
|
|
|
NC_000023.11:g.(?_32614293)_(32614463_?)dup
|
|
|
NC_000023.11:g.(?_32614293)_(32816650_?)del
|
|
|
NC_000023.11:g.(?_32614293)_(32849830_?)dup
|
|
|
NC_000023.11:g.(?_32626362)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32644112)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32644122)_(32644323_?)del
|
|
|
NC_000023.11:g.(?_32644122)_(32645162_?)dup
|
|
|
NC_000023.11:g.(?_32644122)_(32651077_?)del
|
|
|
NC_000023.11:g.(?_32644122)_(32809627_?)dup
|
|
|
NC_000023.11:g.(?_32644122)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32644132)_(32849820_?)del
|
|
|
NC_000023.11:g.(?_32697850)_(32699313_?)del
|
|
|
NC_000023.11:g.(?_32697850)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32697850)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32697860)_(32699303_?)dup
|
|
|
NC_000023.11:g.(?_32697860)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32809473)_(32816660_?)del
|
|
|
NC_000023.11:g.(?_32809473)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32809473)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32809473)_(33020220_?)del
|
|
|
NC_000023.11:g.(?_32809483)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32809483)_(32844870_?)del
|
|
|
NC_000023.11:g.(?_32809483)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32816458)_(32816650_?)dup
|
|
|
NC_000023.11:g.(?_32816458)_(32844870_?)dup
|
|
|
NC_000023.11:g.(?_32816458)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32816458)_(33211312_?)del
|
|
|
NC_000023.11:g.(?_32823275)_(32849840_?)del
|
|
|
NC_000023.11:g.(?_32823285)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32844773)_(32844870_?)dup
|
|
|
NC_000023.11:g.(?_32844773)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32844773)_(33020210_?)dup
|
|
|
NC_000023.11:g.(?_32844783)_(33211312_?)dup
|
|
|
NC_000023.11:g.(?_32849718)_(32849830_?)del
|
|
|
NC_000023.11:g.(?_32849718)_(32849830_?)dup
|
|
|
NC_000023.11:g.(?_33020119)_(33020220_?)del
|
|
|
NC_000023.11:g.(?_33020139)_(33211312_?)dup
|
|
|
NC_000023.11:g.(?_33174335)_(33211366_?)del
|
|
|
NC_000023.11:g.(?_33174335)_(33211366_?)dup
|
|
|
NC_000023.11:g.(?_33211262)_(33211366_?)del
|
|
|
NC_000023.11:g.(?_33211272)_(33211366_?)dup
|
|
|
NC_000023.11:g.31314406_31679596dup
|
|
|
NC_000023.11:g.31444471_31627872dup
|
|
|
NC_000023.11:g.31444471_31679596dup
|
|
|
NC_000023.11:g.32545149_32651077dup
|
|
|
NM_000109.4(DMD):c.10530-1dup
|
rs1555998436
|
|
NM_004006.2(DMD):c.-54_649+10dup
|
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.2(DMD):c.265del
|
rs2078438031
|
|
NM_004006.2(DMD):c.32-?_93+?dup62
|
|
|
NM_004006.2(DMD):c.6251_6290+12981del
|
|
|
NM_004006.2(DMD):c.6439-?_8217+?dup
|
|
|
NM_004006.2(DMD):c.7309+12789_7490del
|
|
|
NM_004006.2(DMD):c.7661-?_10921+?del
|
|
|
NM_004006.2(DMD):c.94-?_4233+?del
|
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.10000del (p.Tyr3334fs)
|
rs2148311910
|
|
NM_004006.3(DMD):c.10005C>T (p.Asp3335=)
|
rs2148311833
|
|
NM_004006.3(DMD):c.10010G>A (p.Cys3337Tyr)
|
rs2041037870
|
|
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe)
|
rs2041037870
|
|
NM_004006.3(DMD):c.10027dup (p.Ser3343fs)
|
|
|
NM_004006.3(DMD):c.1002G>A (p.Leu334=)
|
|
|
NM_004006.3(DMD):c.10032T>G (p.Gly3344=)
|
|
|
NM_004006.3(DMD):c.10033C>A (p.Arg3345=)
|
|
|
NM_004006.3(DMD):c.10033C>G (p.Arg3345Gly)
|
rs398123827
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
NM_004006.3(DMD):c.10034G>C (p.Arg3345Pro)
|
rs2041036250
|
|
NM_004006.3(DMD):c.10038T>G (p.Val3346=)
|
|
|
NM_004006.3(DMD):c.10041A>C (p.Ala3347=)
|
|
|
NM_004006.3(DMD):c.10051_10067del (p.Lys3351fs)
|
|
|
NM_004006.3(DMD):c.10061A>G (p.Tyr3354Cys)
|
|
|
NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)
|
rs886042875
|
|
NM_004006.3(DMD):c.10065C>T (p.Pro3355=)
|
rs905619193
|
|
NM_004006.3(DMD):c.10066A>G (p.Met3356Val)
|
rs2041033085
|
|
NM_004006.3(DMD):c.1006G>T (p.Glu336Ter)
|
rs1057522454
|
|
NM_004006.3(DMD):c.10071G>A (p.Val3357=)
|
|
|
NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter)
|
rs1181271457
|
|
NM_004006.3(DMD):c.10085C>T (p.Pro3362Leu)
|
rs1569423459
|
|
NM_004006.3(DMD):c.10086+12G>A
|
|
|
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.10087-10T>C
|
|
|
NM_004006.3(DMD):c.10087-17C>A
|
|
|
NM_004006.3(DMD):c.10087-18C>A
|
|
|
NM_004006.3(DMD):c.10087-18C>G
|
|
|
NM_004006.3(DMD):c.10087-18C>T
|
|
|
NM_004006.3(DMD):c.10087-7C>G
|
rs2148292529
|
|
NM_004006.3(DMD):c.10087-8C>T
|
|
|
NM_004006.3(DMD):c.10089T>A (p.Thr3363=)
|
rs753017037
|
|
NM_004006.3(DMD):c.10089T>C (p.Thr3363=)
|
|
|
NM_004006.3(DMD):c.10092A>C (p.Thr3364=)
|
rs2148292363
|
|
NM_004006.3(DMD):c.10092A>G (p.Thr3364=)
|
rs2148292363
|
|
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)
|
rs1060502613
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.100A>G (p.Lys34Glu)
|
rs1557084280
|
|
NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly)
|
rs2148292190
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
NM_004006.3(DMD):c.10109G>C (p.Arg3370Pro)
|
rs1556037455
|
|
NM_004006.3(DMD):c.10110A>C (p.Arg3370=)
|
rs2148292097
|
|
NM_004006.3(DMD):c.10119C>G (p.Ala3373=)
|
rs2148292029
|
|
NM_004006.3(DMD):c.10122G>A (p.Lys3374=)
|
rs1556037420
|
|
NM_004006.3(DMD):c.10123G>A (p.Val3375Ile)
|
rs2040830883
|
|
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)
|
rs886043676
|
|
NM_004006.3(DMD):c.10131A>G (p.Lys3377=)
|
rs2148291811
|
|
NM_004006.3(DMD):c.10135A>T (p.Lys3379Ter)
|
rs2148291755
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004006.3(DMD):c.10143A>G (p.Arg3381=)
|
rs2148291648
|
|
NM_004006.3(DMD):c.10149A>G (p.Lys3383=)
|
rs2148291500
|
|
NM_004006.3(DMD):c.10152G>A (p.Arg3384=)
|
rs2040827447
|
|
NM_004006.3(DMD):c.10155T>G (p.Tyr3385Ter)
|
|
|
NM_004006.3(DMD):c.1015G>A (p.Val339Ile)
|
rs886044093
|
|
NM_004006.3(DMD):c.1015G>T (p.Val339Leu)
|
|
|
NM_004006.3(DMD):c.10164G>A (p.Lys3388=)
|
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10173A>C (p.Arg3391=)
|
|
|
NM_004006.3(DMD):c.10174A>G (p.Met3392Val)
|
rs2148290988
|
|
NM_004006.3(DMD):c.10179C>T (p.Gly3393=)
|
rs2148290948
|
|
NM_004006.3(DMD):c.10182C>A (p.Tyr3394Ter)
|
rs1602416457
|
|
NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter)
|
rs398123833
|
|
NM_004006.3(DMD):c.10195A>G (p.Thr3399Ala)
|
|
|
NM_004006.3(DMD):c.10201T>G (p.Leu3401Val)
|
|
|
NM_004006.3(DMD):c.10210dup (p.Asp3404fs)
|
rs2040821014
|
|
NM_004006.3(DMD):c.10215C>T (p.Asn3405=)
|
|
|
NM_004006.3(DMD):c.10217del (p.Met3406fs)
|
rs2148290349
|
|
NM_004006.3(DMD):c.10223+14A>G
|
|
|
NM_004006.3(DMD):c.10223+15A>G
|
|
|
NM_004006.3(DMD):c.10223+18C>T
|
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
NM_004006.3(DMD):c.10223+1G>C
|
rs398123834
|
|
NM_004006.3(DMD):c.10223+20G>C
|
|
|
NM_004006.3(DMD):c.10223+3G>C
|
rs2148290255
|
|
NM_004006.3(DMD):c.10223+8G>C
|
|
|
NM_004006.3(DMD):c.10224-10_10262+22del
|
rs1602407871
|
|
NM_004006.3(DMD):c.10224-10dup
|
rs2040717301
|
|
NM_004006.3(DMD):c.10224-175_10230del
|
rs1556035817
|
|
NM_004006.3(DMD):c.10224-175_10238del
|
rs2040711393
|
|
NM_004006.3(DMD):c.10224-19C>T
|
|
|
NM_004006.3(DMD):c.10224-1G>C
|
rs2148280872
|
|
NM_004006.3(DMD):c.10224-2A>G
|
|
|
NM_004006.3(DMD):c.10224-6_10249delinsACT
|
|
|
NM_004006.3(DMD):c.10224dup (p.Pro3409fs)
|
rs2148280837
|
|
NM_004006.3(DMD):c.10227del (p.Val3410fs)
|
rs2040714340
|
|
NM_004006.3(DMD):c.10227dup (p.Val3410fs)
|
|
|
NM_004006.3(DMD):c.10228G>T (p.Val3410Phe)
|
|
|
NM_004006.3(DMD):c.1022T>A (p.Leu341Gln)
|
|
|
NM_004006.3(DMD):c.10232C>A (p.Thr3411Asn)
|
rs1042981379
|
|
NM_004006.3(DMD):c.10233T>C (p.Thr3411=)
|
|
|
NM_004006.3(DMD):c.10238T>A (p.Ile3413Asn)
|
|
|
NM_004006.3(DMD):c.10238del (p.Ile3413fs)
|
rs1556035795
|
|
NM_004006.3(DMD):c.10239C>T (p.Ile3413=)
|
|
|
NM_004006.3(DMD):c.1023G>A (p.Leu341=)
|
rs776707632
|
|
NM_004006.3(DMD):c.1023G>T (p.Leu341=)
|
|
|
NM_004006.3(DMD):c.10242C>T (p.Asn3414=)
|
|
|
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
|
rs376745644
|
|
NM_004006.3(DMD):c.10251A>G (p.Pro3417=)
|
rs2148280052
|
|
NM_004006.3(DMD):c.10252G>A (p.Val3418Ile)
|
|
|
NM_004006.3(DMD):c.10257T>C (p.Asp3419=)
|
rs2148279944
|
|
NM_004006.3(DMD):c.10258dup (p.Ser3420fs)
|
rs398123835
|
|
NM_004006.3(DMD):c.10259C>T (p.Ser3420Phe)
|
rs398123836
|
|
NM_004006.3(DMD):c.10260T>G (p.Ser3420=)
|
|
|
NM_004006.3(DMD):c.10260_10261insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTCCACAAAGCCTCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGCTGGCCAGTAGATTCT (p.Ala3421delinsPhePhePhePhePhePheXaaXaaXaaXaaPheHisLysAlaSerIleValIleLeuAlaArgSerGlnTer)
|
|
|
NM_004006.3(DMD):c.10260_10262+2dup
|
|
|
NM_004006.3(DMD):c.10261G>A (p.Ala3421Thr)
|
rs2040705871
|
|
NM_004006.3(DMD):c.10262+13T>C
|
|
|
NM_004006.3(DMD):c.10262+14T>G
|
|
|
NM_004006.3(DMD):c.10262+15dup
|
rs748893368
|
|
NM_004006.3(DMD):c.10262+1G>T
|
rs145603325
|
|
NM_004006.3(DMD):c.10262+8C>A
|
|
|
NM_004006.3(DMD):c.10263-10_10263-9insGACTAATCACATTTTCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
rs2148227773
|
|
NM_004006.3(DMD):c.10263-6T>C
|
rs2148227688
|
|
NM_004006.3(DMD):c.10263-6T>G
|
rs2148227688
|
|
NM_004006.3(DMD):c.10263-9G>A
|
rs1602370248
|
|
NM_004006.3(DMD):c.10266T>A (p.Pro3422=)
|
rs2148227575
|
|
NM_004006.3(DMD):c.10266T>C (p.Pro3422=)
|
|
|
NM_004006.3(DMD):c.1026C>G (p.Asp342Glu)
|
rs2059699090
|
|
NM_004006.3(DMD):c.1026C>T (p.Asp342=)
|
rs2059699090
|
|
NM_004006.3(DMD):c.10272G>C (p.Ser3424=)
|
|
|
NM_004006.3(DMD):c.1027C>A (p.Arg343Ser)
|
|
|
NM_004006.3(DMD):c.10291G>A (p.Asp3431Asn)
|
rs776084073
|
|
NM_004006.3(DMD):c.10297dup (p.Thr3433fs)
|
rs2040217313
|
|
NM_004006.3(DMD):c.10299T>C (p.Thr3433=)
|
|
|
NM_004006.3(DMD):c.102G>A (p.Lys34=)
|
|
|
NM_004006.3(DMD):c.10307G>A (p.Arg3436His)
|
|
|
NM_004006.3(DMD):c.10308C>G (p.Arg3436=)
|
rs780389106
|
|
NM_004006.3(DMD):c.10308C>T (p.Arg3436=)
|
rs780389106
|
|
NM_004006.3(DMD):c.10314A>G (p.Glu3438=)
|
|
|
NM_004006.3(DMD):c.10323T>C (p.Ala3441=)
|
rs2148226974
|
|
NM_004006.3(DMD):c.10328+10T>C
|
rs2148226766
|
|
NM_004006.3(DMD):c.10328+14T>C
|
|
|
NM_004006.3(DMD):c.10328+15G>C
|
|
|
NM_004006.3(DMD):c.10328+17A>G
|
|
|
NM_004006.3(DMD):c.10329-11dup
|
rs2148214110
|
|
NM_004006.3(DMD):c.10329-12G>A
|
|
|
NM_004006.3(DMD):c.10329-18T>C
|
|
|
NM_004006.3(DMD):c.10329-19C>A
|
|
|
NM_004006.3(DMD):c.10329-8T>C
|
rs2148214152
|
|
NM_004006.3(DMD):c.1033C>T (p.Gln345Ter)
|
rs2146834557
|
|
NM_004006.3(DMD):c.10348A>C (p.Ser3450Arg)
|
|
|
NM_004006.3(DMD):c.10361del (p.Tyr3454fs)
|
rs886043084
|
|
NM_004006.3(DMD):c.10362T>C (p.Tyr3454=)
|
rs1556028072
|
|
NM_004006.3(DMD):c.10363C>G (p.Leu3455Val)
|
rs2148213811
|
|
NM_004006.3(DMD):c.10367del (p.Asn3456fs)
|
rs1556028034
|
|
NM_004006.3(DMD):c.10381C>A (p.Pro3461Thr)
|
|
|
NM_004006.3(DMD):c.10394+19_10394+21del
|
|
|
NM_004006.3(DMD):c.10394+20_10394+21del
|
|
|
NM_004006.3(DMD):c.10394+7A>T
|
rs2040078160
|
|
NM_004006.3(DMD):c.10394+8T>C
|
|
|
NM_004006.3(DMD):c.10394+9C>T
|
rs2148213439
|
|
NM_004006.3(DMD):c.10395-10T>G
|
|
|
NM_004006.3(DMD):c.10395-14A>G
|
|
|
NM_004006.3(DMD):c.10395-17T>C
|
|
|
NM_004006.3(DMD):c.10395-1G>C
|
rs1602338283
|
|
NM_004006.3(DMD):c.10395-9del
|
|
|
NM_004006.3(DMD):c.10395A>G (p.Ile3465Met)
|
|
|
NM_004006.3(DMD):c.103C>T (p.Gln35Ter)
|
rs2149015656
|
|
NM_004006.3(DMD):c.10406_10407insAA (p.His3469fs)
|
rs1060502630
|
|
NM_004006.3(DMD):c.10407T>A (p.His3469Gln)
|
|
|
NM_004006.3(DMD):c.10425C>G (p.Tyr3475Ter)
|
rs2148184732
|
|
NM_004006.3(DMD):c.1042T>C (p.Leu348=)
|
|
|
NM_004006.3(DMD):c.10431A>G (p.Gln3477=)
|
|
|
NM_004006.3(DMD):c.10434T>C (p.Ser3478=)
|
rs2148184530
|
|
NM_004006.3(DMD):c.10440C>G (p.Asn3480Lys)
|
|
|
NM_004006.3(DMD):c.10440C>T (p.Asn3480=)
|
|
|
NM_004006.3(DMD):c.10449C>A (p.Ser3483=)
|
rs2148184305
|
|
NM_004006.3(DMD):c.1044A>C (p.Leu348Phe)
|
|
|
NM_004006.3(DMD):c.1044A>G (p.Leu348=)
|
|
|
NM_004006.3(DMD):c.10452C>G (p.Pro3484=)
|
rs1225615433
|
|
NM_004006.3(DMD):c.10453C>G (p.Leu3485Val)
|
|
|
NM_004006.3(DMD):c.10453C>T (p.Leu3485=)
|
rs2148184187
|
|
NM_004006.3(DMD):c.10453_10454del (p.Leu3485fs)
|
rs398123838
|
|
NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer)
|
rs886043375
|
|
NM_004006.3(DMD):c.10454T>A (p.Leu3485Gln)
|
rs2148184033
|
|
NM_004006.3(DMD):c.10454dup (p.Ser3486fs)
|
rs2148184058
|
|
NM_004006.3(DMD):c.1046AAG[1] (p.Glu350del)
|
rs2146834326
|
|
NM_004006.3(DMD):c.10474G>T (p.Ala3492Ser)
|
rs749781194
|
|
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)
|
rs886042495
|
|
NM_004006.3(DMD):c.1047A>G (p.Glu349=)
|
|
|
NM_004006.3(DMD):c.10482del (p.Ile3494_Leu3495insTer)
|
rs2148183611
|
|
NM_004006.3(DMD):c.10498_10499del (p.Glu3499_Ser3500insTer)
|
rs1602337330
|
|
NM_004006.3(DMD):c.10501G>A (p.Glu3501Lys)
|
|
|
NM_004006.3(DMD):c.10505A>T (p.Glu3502Val)
|
rs773880226
|
|
NM_004006.3(DMD):c.10506_10507del (p.Glu3505fs)
|
|
|
NM_004006.3(DMD):c.10512G>A (p.Gly3504=)
|
|
|
NM_004006.3(DMD):c.10516C>A (p.Leu3506Ile)
|
|
|
NM_004006.3(DMD):c.1051G>A (p.Val351Ile)
|
|
|
NM_004006.3(DMD):c.10523_10524del (p.Arg3508fs)
|
|
|
NM_004006.3(DMD):c.10536T>G (p.Asp3512Glu)
|
|
|
NM_004006.3(DMD):c.1053_1065del (p.Leu352fs)
|
|
|
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)
|
rs1569401103
|
|
NM_004006.3(DMD):c.1054T>C (p.Leu352=)
|
|
|
NM_004006.3(DMD):c.10553+10C>T
|
|
|
NM_004006.3(DMD):c.10553+12T>C
|
|
|
NM_004006.3(DMD):c.10553+12T>G
|
|
|
NM_004006.3(DMD):c.10554-12T>C
|
|
|
NM_004006.3(DMD):c.10554-16T>A
|
|
|
NM_004006.3(DMD):c.10554-19A>G
|
|
|
NM_004006.3(DMD):c.10554-1G>C
|
|
|
NM_004006.3(DMD):c.10554-20T>C
|
|
|
NM_004006.3(DMD):c.10554-20del
|
|
|
NM_004006.3(DMD):c.10554-29_10554-20del
|
rs200138464
|
|
NM_004006.3(DMD):c.10554-2A>G
|
rs794727890
|
|
NM_004006.3(DMD):c.10554-4A>T
|
|
|
NM_004006.3(DMD):c.10554-8G>A
|
rs2147936613
|
|
NM_004006.3(DMD):c.10554G>A (p.Arg3518=)
|
rs2147936482
|
|
NM_004006.3(DMD):c.10560G>A (p.Leu3520=)
|
rs2147936414
|
|
NM_004006.3(DMD):c.10560G>T (p.Leu3520=)
|
rs2147936414
|
|
NM_004006.3(DMD):c.10563del (p.Ala3522fs)
|
rs2147936347
|
|
NM_004006.3(DMD):c.1056A>G (p.Leu352=)
|
|
|
NM_004006.3(DMD):c.10572T>C (p.Tyr3524=)
|
rs886043817
|
|
NM_004006.3(DMD):c.10581A>G (p.Leu3527=)
|
|
|
NM_004006.3(DMD):c.10587G>A (p.Gln3529=)
|
rs1366436379
|
|
NM_004006.3(DMD):c.10591C>G (p.His3531Asp)
|
|
|
NM_004006.3(DMD):c.10595A>G (p.Glu3532Gly)
|
|
|
NM_004006.3(DMD):c.10604G>T (p.Gly3535Val)
|
rs1555998259
|
|
NM_004006.3(DMD):c.10611C>T (p.Ser3537=)
|
|
|
NM_004006.3(DMD):c.1061G>A (p.Trp354Ter)
|
rs1060502644
|
|
NM_004006.3(DMD):c.10623C>T (p.Ser3541=)
|
rs886043051
|
|
NM_004006.3(DMD):c.10624C>G (p.Pro3542Ala)
|
|
|
NM_004006.3(DMD):c.10625C>T (p.Pro3542Leu)
|
|
|
NM_004006.3(DMD):c.10626T>C (p.Pro3542=)
|
|
|
NM_004006.3(DMD):c.10629T>A (p.Pro3543=)
|
|
|
NM_004006.3(DMD):c.10639C>T (p.Pro3547Ser)
|
|
|
NM_004006.3(DMD):c.10641C>A (p.Pro3547=)
|
rs2147934871
|
|
NM_004006.3(DMD):c.10642dup (p.Thr3548fs)
|
rs2147934840
|
|
NM_004006.3(DMD):c.10648C>T (p.Pro3550Ser)
|
|
|
NM_004006.3(DMD):c.10650C>A (p.Pro3550=)
|
rs2147934773
|
|
NM_004006.3(DMD):c.10653G>A (p.Gln3551=)
|
rs2147934686
|
|
NM_004006.3(DMD):c.10655_10663del (p.Ser3552_Asp3555delinsAsn)
|
|
|
NM_004006.3(DMD):c.1065T>C (p.Leu355=)
|
|
|
NM_004006.3(DMD):c.10662G>A (p.Arg3554=)
|
rs2147934549
|
|
NM_004006.3(DMD):c.10666G>A (p.Ala3556Thr)
|
rs2036843971
|
|
NM_004006.3(DMD):c.10668T>C (p.Ala3556=)
|
rs2147934482
|
|
NM_004006.3(DMD):c.10674C>A (p.Leu3558=)
|
|
|
NM_004006.3(DMD):c.10680T>C (p.Ala3560=)
|
rs2147934403
|
|
NM_004006.3(DMD):c.10683G>A (p.Glu3561=)
|
|
|
NM_004006.3(DMD):c.10686C>T (p.Ala3562=)
|
rs2147934323
|
|
NM_004006.3(DMD):c.10697G>A (p.Arg3566His)
|
rs2147934267
|
|
NM_004006.3(DMD):c.10725del (p.Met3576fs)
|
rs1060502625
|
|
NM_004006.3(DMD):c.10734C>T (p.Ile3578=)
|
|
|
NM_004006.3(DMD):c.10740A>G (p.Glu3580=)
|
|
|
NM_004006.3(DMD):c.10743C>T (p.Asp3581=)
|
rs777330782
|
|
NM_004006.3(DMD):c.10753C>T (p.Gln3585Ter)
|
rs2147933949
|
|
NM_004006.3(DMD):c.10756C>T (p.Leu3586=)
|
rs2147933928
|
|
NM_004006.3(DMD):c.10758G>A (p.Leu3586=)
|
rs2147933898
|
|
NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)
|
rs1556876346
|
|
NM_004006.3(DMD):c.10761G>A (p.Glu3587=)
|
rs2147933829
|
|
NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter)
|
rs1602145926
|
|
NM_004006.3(DMD):c.10776G>A (p.Arg3592=)
|
|
|
NM_004006.3(DMD):c.10779A>G (p.Leu3593=)
|
rs2036836335
|
|
NM_004006.3(DMD):c.1077G>A (p.Glu359=)
|
|
|
NM_004006.3(DMD):c.10783C>T (p.Gln3595Ter)
|
rs1385794215
|
|
NM_004006.3(DMD):c.10791G>C (p.Leu3597=)
|
|
|
NM_004006.3(DMD):c.10797+10G>A
|
rs1372889768
|
|
NM_004006.3(DMD):c.10797+14T>A
|
|
|
NM_004006.3(DMD):c.10797+14T>C
|
|
|
NM_004006.3(DMD):c.10797+17G>A
|
rs2147933057
|
|
NM_004006.3(DMD):c.10797+1G>A
|
rs1060502626
|
|
NM_004006.3(DMD):c.10797+2T>A
|
rs2036834025
|
|
NM_004006.3(DMD):c.10797+5G>A
|
rs398123846
|
|
NM_004006.3(DMD):c.10797+6_10797+8del
|
rs761754676
|
|
NM_004006.3(DMD):c.10798-10G>A
|
rs2147922859
|
|
NM_004006.3(DMD):c.10798-11G>A
|
rs2147922901
|
|
NM_004006.3(DMD):c.10798-16C>A
|
|
|
NM_004006.3(DMD):c.10798-3T>A
|
|
|
NM_004006.3(DMD):c.10798-4T>A
|
|
|
NM_004006.3(DMD):c.10798-7G>T
|
rs2036702452
|
|
NM_004006.3(DMD):c.10798-9A>C
|
|
|
NM_004006.3(DMD):c.10798C>T (p.Pro3600Ser)
|
|
|
NM_004006.3(DMD):c.1079A>T (p.Asp360Val)
|
rs1556876337
|
|
NM_004006.3(DMD):c.10800C>A (p.Pro3600=)
|
rs2147922697
|
|
NM_004006.3(DMD):c.10813A>T (p.Lys3605Ter)
|
rs2036700718
|
|
NM_004006.3(DMD):c.10818G>A (p.Val3606=)
|
rs998357801
|
|
NM_004006.3(DMD):c.10827A>C (p.Thr3609=)
|
rs2147922398
|
|
NM_004006.3(DMD):c.10829C>T (p.Thr3610Met)
|
rs2036699076
|
|
NM_004006.3(DMD):c.10830G>A (p.Thr3610=)
|
rs113604000
|
|
NM_004006.3(DMD):c.10831G>T (p.Val3611Leu)
|
|
|
NM_004006.3(DMD):c.10832T>C (p.Val3611Ala)
|
|
|
NM_004006.3(DMD):c.10834T>G (p.Ser3612Ala)
|
|
|
NM_004006.3(DMD):c.10839T>A (p.Ser3613=)
|
|
|
NM_004006.3(DMD):c.1083A>T (p.Thr361=)
|
rs767325921
|
|
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del)
|
rs751391426
|
|
NM_004006.3(DMD):c.10846A>C (p.Thr3616Pro)
|
rs368996545
|
|
NM_004006.3(DMD):c.10848C>G (p.Thr3616=)
|
rs1602138712
|
|
NM_004006.3(DMD):c.1084T>C (p.Leu362=)
|
rs1556876311
|
|
NM_004006.3(DMD):c.10855C>T (p.Gln3619Ter)
|
rs2147921886
|
|
NM_004006.3(DMD):c.1085T>C (p.Leu362Ser)
|
|
|
NM_004006.3(DMD):c.10864G>C (p.Asp3622His)
|
|
|
NM_004006.3(DMD):c.10866C>T (p.Asp3622=)
|
|
|
NM_004006.3(DMD):c.1086G>A (p.Leu362=)
|
rs2146833549
|
|
NM_004006.3(DMD):c.10872T>C (p.Ser3624=)
|
rs2147921726
|
|
NM_004006.3(DMD):c.10875G>A (p.Gln3625=)
|
rs2147921689
|
|
NM_004006.3(DMD):c.10877C>T (p.Pro3626Leu)
|
rs2147921655
|
|
NM_004006.3(DMD):c.10878T>A (p.Pro3626=)
|
rs2147921616
|
|
NM_004006.3(DMD):c.10879A>G (p.Met3627Val)
|
rs886044628
|
|
NM_004006.3(DMD):c.10893G>A (p.Val3631=)
|
|
|
NM_004006.3(DMD):c.10893G>C (p.Val3631=)
|
rs1602138534
|
|
NM_004006.3(DMD):c.10895T>C (p.Val3632Ala)
|
|
|
NM_004006.3(DMD):c.10896T>G (p.Val3632=)
|
|
|
NM_004006.3(DMD):c.10898G>A (p.Gly3633Asp)
|
|
|
NM_004006.3(DMD):c.108T>C (p.His36=)
|
|
|
NM_004006.3(DMD):c.10905A>G (p.Gln3635=)
|
rs1602138365
|
|
NM_004006.3(DMD):c.10916C>T (p.Ser3639Phe)
|
|
|
NM_004006.3(DMD):c.10918A>G (p.Met3640Val)
|
|
|
NM_004006.3(DMD):c.10921+15T>C
|
|
|
NM_004006.3(DMD):c.10921+17C>T
|
|
|
NM_004006.3(DMD):c.10921+18T>C
|
rs2147920708
|
|
NM_004006.3(DMD):c.10921+19C>G
|
|
|
NM_004006.3(DMD):c.10921+2T>C
|
rs2147921052
|
|
NM_004006.3(DMD):c.10921+5G>C
|
rs398123848
|
|
NM_004006.3(DMD):c.10921+7G>A
|
|
|
NM_004006.3(DMD):c.10921+7G>T
|
rs1060504677
|
|
NM_004006.3(DMD):c.10921+9C>A
|
|
|
NM_004006.3(DMD):c.10922-10T>C
|
|
|
NM_004006.3(DMD):c.10922-18G>C
|
|
|
NM_004006.3(DMD):c.10922-5T>C
|
|
|
NM_004006.3(DMD):c.10922-7T>C
|
|
|
NM_004006.3(DMD):c.10922-8T>C
|
|
|
NM_004006.3(DMD):c.10923T>C (p.Gly3641=)
|
rs1602035340
|
|
NM_004006.3(DMD):c.10929A>C (p.Glu3643Asp)
|
|
|
NM_004006.3(DMD):c.10932T>G (p.Asp3644Glu)
|
rs2034882802
|
|
NM_004006.3(DMD):c.10936C>G (p.Leu3646Val)
|
|
|
NM_004006.3(DMD):c.1093C>A (p.Gln365Lys)
|
|
|
NM_004006.3(DMD):c.1093C>G (p.Gln365Glu)
|
rs794726993
|
|
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)
|
rs794726993
|
|
NM_004006.3(DMD):c.10942C>T (p.Pro3648Ser)
|
|
|
NM_004006.3(DMD):c.1095A>G (p.Gln365=)
|
|
|
NM_004006.3(DMD):c.10961C>A (p.Thr3654Lys)
|
rs2034876653
|
|
NM_004006.3(DMD):c.10964G>A (p.Gly3655Glu)
|
|
|
NM_004006.3(DMD):c.10964G>C (p.Gly3655Ala)
|
|
|
NM_004006.3(DMD):c.10969G>A (p.Glu3657Lys)
|
rs2147774607
|
|
NM_004006.3(DMD):c.10979T>G (p.Met3660Arg)
|
rs2034871943
|
|
NM_004006.3(DMD):c.1097G>A (p.Gly366Glu)
|
rs763144501
|
|
NM_004006.3(DMD):c.1097G>T (p.Gly366Val)
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.10995C>T (p.Asn3665=)
|
rs1360899530
|
|
NM_004006.3(DMD):c.10998C>T (p.Ser3666=)
|
|
|
NM_004006.3(DMD):c.11001C>T (p.Phe3667=)
|
rs2147774145
|
|
NM_004006.3(DMD):c.11003C>G (p.Pro3668Arg)
|
rs2147774126
|
|
NM_004006.3(DMD):c.11014+10A>C
|
rs2147773906
|
|
NM_004006.3(DMD):c.11014+11A>G
|
|
|
NM_004006.3(DMD):c.11014+12T>C
|
|
|
NM_004006.3(DMD):c.11014+15C>T
|
|
|
NM_004006.3(DMD):c.11014+17A>G
|
|
|
NM_004006.3(DMD):c.11014+6C>T
|
|
|
NM_004006.3(DMD):c.11014+7T>C
|
|
|
NM_004006.3(DMD):c.11014+8C>T
|
rs1298765698
|
|
NM_004006.3(DMD):c.11015-10A>C
|
|
|
NM_004006.3(DMD):c.11015-10A>G
|
|
|
NM_004006.3(DMD):c.11015-11T>C
|
|
|
NM_004006.3(DMD):c.11015-12C>G
|
|
|
NM_004006.3(DMD):c.11015-16C>G
|
|
|
NM_004006.3(DMD):c.11015-18C>A
|
|
|
NM_004006.3(DMD):c.11015-18C>T
|
|
|
NM_004006.3(DMD):c.11015-18CT[2]
|
|
|
NM_004006.3(DMD):c.11015-6_11015-4del
|
rs748344570
|
|
NM_004006.3(DMD):c.11018G>A (p.Arg3673Lys)
|
rs1795743
|
|
NM_004006.3(DMD):c.1101G>A (p.Glu367=)
|
rs2146833091
|
|
NM_004006.3(DMD):c.1101G>C (p.Glu367Asp)
|
rs2146833091
|
|
NM_004006.3(DMD):c.11022T>G (p.Asn3674Lys)
|
rs398123849
|
|
NM_004006.3(DMD):c.11027C>T (p.Pro3676Leu)
|
|
|
NM_004006.3(DMD):c.11031A>G (p.Gly3677=)
|
rs2147665754
|
|
NM_004006.3(DMD):c.11044G>C (p.Glu3682Gln)
|
|
|
NM_004006.3(DMD):c.11046+10A>G
|
|
|
NM_004006.3(DMD):c.11046+11T>A
|
|
|
NM_004006.3(DMD):c.11046+18T>G
|
rs2147665235
|
|
NM_004006.3(DMD):c.11046+9G>A
|
rs2147665463
|
|
NM_004006.3(DMD):c.11047-10T>C
|
|
|
NM_004006.3(DMD):c.11047-11_11047-10del
|
rs751483072
|
|
NM_004006.3(DMD):c.11047-12T>C
|
|
|
NM_004006.3(DMD):c.11047-13_11047-10del
|
|
|
NM_004006.3(DMD):c.11047-14T>G
|
|
|
NM_004006.3(DMD):c.11047-15CT[4]
|
|
|
NM_004006.3(DMD):c.11047-15_11047-10del
|
rs2147582953
|
|
NM_004006.3(DMD):c.11047-17_11047-14del
|
rs757261855
|
|
NM_004006.3(DMD):c.11047-21TTCT[3]
|
|
|
NM_004006.3(DMD):c.11047-32_11047-8dup
|
|
|
NM_004006.3(DMD):c.11047-34_11047-7dup
|
rs2147582709
|
|
NM_004006.3(DMD):c.11047-3C>T
|
|
|
NM_004006.3(DMD):c.11047-3dup
|
|
|
NM_004006.3(DMD):c.11047-5T>C
|
|
|
NM_004006.3(DMD):c.11047-9_11047-6dup
|
|
|
NM_004006.3(DMD):c.1104T>A (p.Ile368=)
|
rs2059694784
|
|
NM_004006.3(DMD):c.11052A>C (p.Thr3684=)
|
|
|
NM_004006.3(DMD):c.11052A>G (p.Thr3684=)
|
rs1462215447
|
|
NM_004006.3(DMD):c.11052A>T (p.Thr3684=)
|
|
|
NM_004006.3(DMD):c.11054T>C (p.Met3685Thr)
|
rs1464917165
|
|
NM_004006.3(DMD):c.1107T>C (p.Ser369=)
|
|
|
NM_004006.3(DMD):c.1108A>G (p.Asn370Asp)
|
rs1335517714
|
|
NM_004006.3(DMD):c.1114G>T (p.Val372Leu)
|
rs747254030
|
|
NM_004006.3(DMD):c.111T>C (p.Ile37=)
|
|
|
NM_004006.3(DMD):c.1129del (p.Asp377fs)
|
rs1602467787
|
|
NM_004006.3(DMD):c.1131C>G (p.Asp377Glu)
|
rs747305466
|
|
NM_004006.3(DMD):c.1132C>G (p.Gln378Glu)
|
rs1556876203
|
|
NM_004006.3(DMD):c.1139A>G (p.His380Arg)
|
rs1556876185
|
|
NM_004006.3(DMD):c.1144C>T (p.His382Tyr)
|
rs1556876180
|
|
NM_004006.3(DMD):c.1146T>C (p.His382=)
|
rs1045027122
|
|
NM_004006.3(DMD):c.1149+13G>A
|
|
|
NM_004006.3(DMD):c.1149+15T>C
|
|
|
NM_004006.3(DMD):c.1149+16A>C
|
|
|
NM_004006.3(DMD):c.1149+16A>G
|
|
|
NM_004006.3(DMD):c.1149+1G>A
|
rs1060502634
|
|
NM_004006.3(DMD):c.1149+6C>G
|
|
|
NM_004006.3(DMD):c.1149+7T>C
|
rs2059692133
|
|
NM_004006.3(DMD):c.1149+8A>G
|
|
|
NM_004006.3(DMD):c.1149+8A>T
|
|
|
NM_004006.3(DMD):c.1150-12C>T
|
|
|
NM_004006.3(DMD):c.1150-13C>A
|
|
|
NM_004006.3(DMD):c.1150-18A>G
|
|
|
NM_004006.3(DMD):c.1150-253_1150-5delinsAGT
|
rs2146822766
|
|
NM_004006.3(DMD):c.1150-2A>G
|
rs794727030
|
|
NM_004006.3(DMD):c.1150-2_1150-1del
|
rs2146822662
|
|
NM_004006.3(DMD):c.1150-5G>C
|
|
|
NM_004006.3(DMD):c.1152G>A (p.Gly384=)
|
rs1170501945
|
|
NM_004006.3(DMD):c.1152G>T (p.Gly384=)
|
rs1170501945
|
|
NM_004006.3(DMD):c.1157T>A (p.Met386Lys)
|
rs2146822418
|
|
NM_004006.3(DMD):c.1158G>A (p.Met386Ile)
|
|
|
NM_004006.3(DMD):c.1160T>G (p.Met387Arg)
|
rs746169492
|
|
NM_004006.3(DMD):c.1170A>G (p.Thr390=)
|
|
|
NM_004006.3(DMD):c.1172C>A (p.Ala391Asp)
|
rs1602460817
|
|
NM_004006.3(DMD):c.1174C>T (p.His392Tyr)
|
rs1430827339
|
|
NM_004006.3(DMD):c.1176T>C (p.His392=)
|
rs1057521572
|
|
NM_004006.3(DMD):c.1177C>T (p.Gln393Ter)
|
rs2146821938
|
|
NM_004006.3(DMD):c.1182C>A (p.Gly394=)
|
rs1271368946
|
|
NM_004006.3(DMD):c.1182C>T (p.Gly394=)
|
rs1271368946
|
|
NM_004006.3(DMD):c.1183del (p.Arg395fs)
|
rs2146821772
|
|
NM_004006.3(DMD):c.1185G>A (p.Arg395=)
|
rs2146821665
|
|
NM_004006.3(DMD):c.118C>G (p.Leu40Val)
|
|
|
NM_004006.3(DMD):c.118C>T (p.Leu40Phe)
|
rs1001154410
|
|
NM_004006.3(DMD):c.1196T>C (p.Ile399Thr)
|
rs2059648333
|
|
NM_004006.3(DMD):c.1197T>A (p.Ile399=)
|
rs777209816
|
|
NM_004006.3(DMD):c.1197T>C (p.Ile399=)
|
|
|
NM_004006.3(DMD):c.1198C>G (p.Leu400Val)
|
|
|
NM_004006.3(DMD):c.1198C>T (p.Leu400=)
|
|
|
NM_004006.3(DMD):c.119T>A (p.Leu40His)
|
|
|
NM_004006.3(DMD):c.1200A>G (p.Leu400=)
|
rs2059648126
|
|
NM_004006.3(DMD):c.1201C>T (p.Gln401Ter)
|
rs2146821257
|
|
NM_004006.3(DMD):c.1203A>G (p.Gln401=)
|
rs2146821203
|
|
NM_004006.3(DMD):c.1204T>C (p.Leu402=)
|
|
|
NM_004006.3(DMD):c.1207G>T (p.Gly403Ter)
|
rs2146821137
|
|
NM_004006.3(DMD):c.1216C>G (p.Leu406Val)
|
rs1569374104
|
|
NM_004006.3(DMD):c.1216C>T (p.Leu406=)
|
|
|
NM_004006.3(DMD):c.1218G>C (p.Leu406=)
|
|
|
NM_004006.3(DMD):c.1218G>T (p.Leu406=)
|
|
|
NM_004006.3(DMD):c.121T>G (p.Phe41Val)
|
|
|
NM_004006.3(DMD):c.1225A>G (p.Thr409Ala)
|
rs34155804
|
|
NM_004006.3(DMD):c.1227A>G (p.Thr409=)
|
rs1214709701
|
|
NM_004006.3(DMD):c.1233A>T (p.Lys411Asn)
|
rs2059646376
|
|
NM_004006.3(DMD):c.1234T>C (p.Leu412=)
|
|
|
NM_004006.3(DMD):c.1236A>T (p.Leu412Phe)
|
rs2059646282
|
|
NM_004006.3(DMD):c.1236dup (p.Ser413fs)
|
|
|
NM_004006.3(DMD):c.1238C>A (p.Ser413Ter)
|
rs2059646164
|
|
NM_004006.3(DMD):c.1239A>G (p.Ser413=)
|
rs751436295
|
|
NM_004006.3(DMD):c.1240G>T (p.Glu414Ter)
|
rs2146820376
|
|
NM_004006.3(DMD):c.1243G>A (p.Asp415Asn)
|
|
|
NM_004006.3(DMD):c.1246G>A (p.Glu416Lys)
|
|
|
NM_004006.3(DMD):c.1251A>G (p.Glu417=)
|
|
|
NM_004006.3(DMD):c.1252A>C (p.Thr418Pro)
|
|
|
NM_004006.3(DMD):c.1254T>G (p.Thr418=)
|
rs777002544
|
|
NM_004006.3(DMD):c.1254_1255dup (p.Glu419fs)
|
rs1602460062
|
|
NM_004006.3(DMD):c.1261C>A (p.Gln421Lys)
|
|
|
NM_004006.3(DMD):c.1261C>G (p.Gln421Glu)
|
|
|
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)
|
rs398123852
|
|
NM_004006.3(DMD):c.1262A>C (p.Gln421Pro)
|
|
|
NM_004006.3(DMD):c.1263A>G (p.Gln421=)
|
rs2146819736
|
|
NM_004006.3(DMD):c.1264G>C (p.Glu422Gln)
|
|
|
NM_004006.3(DMD):c.1264del (p.Glu422fs)
|
|
|
NM_004006.3(DMD):c.1266_1270dup (p.Met424fs)
|
|
|
NM_004006.3(DMD):c.1268A>C (p.Gln423Pro)
|
rs2059644324
|
|
NM_004006.3(DMD):c.126T>C (p.Ser42=)
|
|
|
NM_004006.3(DMD):c.1272G>A (p.Met424Ile)
|
rs1569373686
|
|
NM_004006.3(DMD):c.1274A>G (p.Asn425Ser)
|
rs1449136689
|
|
NM_004006.3(DMD):c.1278C>T (p.Leu426=)
|
|
|
NM_004006.3(DMD):c.1281A>C (p.Leu427=)
|
rs1602459678
|
|
NM_004006.3(DMD):c.1283del (p.Asn428fs)
|
rs2059643357
|
|
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)
|
rs398123853
|
|
NM_004006.3(DMD):c.1286C>T (p.Ser429Leu)
|
|
|
NM_004006.3(DMD):c.1287A>G (p.Ser429=)
|
rs1602459627
|
|
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)
|
rs1556875224
|
|
NM_004006.3(DMD):c.1294_1295dup (p.Cys433fs)
|
rs2059642653
|
|
NM_004006.3(DMD):c.1299C>A (p.Cys433Ter)
|
rs372135475
|
|
NM_004006.3(DMD):c.1303A>C (p.Arg435=)
|
|
|
NM_004006.3(DMD):c.1306del (p.Arg435_Val436insTer)
|
rs398123854
|
|
NM_004006.3(DMD):c.1308A>G (p.Val436=)
|
rs2146818819
|
|
NM_004006.3(DMD):c.1309G>A (p.Ala437Thr)
|
rs748964279
|
|
NM_004006.3(DMD):c.130C>T (p.Leu44=)
|
rs2149015436
|
|
NM_004006.3(DMD):c.1310C>A (p.Ala437Asp)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1310C>T (p.Ala437Val)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1311T>G (p.Ala437=)
|
rs398123855
|
|
NM_004006.3(DMD):c.1313G>C (p.Ser438Thr)
|
|
|
NM_004006.3(DMD):c.1314C>T (p.Ser438=)
|
rs747721896
|
|
NM_004006.3(DMD):c.1315A>G (p.Met439Val)
|
rs1569373322
|
|
NM_004006.3(DMD):c.1318G>T (p.Glu440Ter)
|
|
|
NM_004006.3(DMD):c.1320A>G (p.Glu440=)
|
|
|
NM_004006.3(DMD):c.1323dup (p.Gln442fs)
|
rs1602459252
|
|
NM_004006.3(DMD):c.1324C>G (p.Gln442Glu)
|
|
|
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter)
|
rs863224979
|
|
NM_004006.3(DMD):c.1328G>A (p.Ser443Asn)
|
rs2059640455
|
|
NM_004006.3(DMD):c.1329C>T (p.Ser443=)
|
rs1060502631
|
|
NM_004006.3(DMD):c.132A>G (p.Leu44=)
|
rs1316036563
|
|
NM_004006.3(DMD):c.1331+10T>G
|
rs746928829
|
|
NM_004006.3(DMD):c.1331+12T>C
|
rs1326201823
|
|
NM_004006.3(DMD):c.1331+4del
|
rs2059639861
|
|
NM_004006.3(DMD):c.1331+6T>A
|
|
|
NM_004006.3(DMD):c.1331+9T>C
|
|
|
NM_004006.3(DMD):c.1332-10A>C
|
|
|
NM_004006.3(DMD):c.1332-10A>G
|
|
|
NM_004006.3(DMD):c.1332-11909C>G
|
rs1556861879
|
|
NM_004006.3(DMD):c.1332-11C>G
|
rs370927319
|
|
NM_004006.3(DMD):c.1332-13T>G
|
|
|
NM_004006.3(DMD):c.1332-16T>C
|
rs1203420988
|
|
NM_004006.3(DMD):c.1332-4dup
|
rs2057406296
|
|
NM_004006.3(DMD):c.1332-9A>G
|
rs72468700
|
|
NM_004006.3(DMD):c.1332-9A>T
|
|
|
NM_004006.3(DMD):c.1335A>G (p.Leu445=)
|
rs1487886667
|
|
NM_004006.3(DMD):c.1339A>T (p.Arg447Ter)
|
rs2149350435
|
|
NM_004006.3(DMD):c.1340G>C (p.Arg447Thr)
|
|
|
NM_004006.3(DMD):c.1341_1342del (p.Arg447fs)
|
rs398123856
|
|
NM_004006.3(DMD):c.1341_1342dup (p.Val448fs)
|
rs398123856
|
|
NM_004006.3(DMD):c.1342G>T (p.Val448Phe)
|
|
|
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)
|
rs1602169535
|
|
NM_004006.3(DMD):c.1354C>T (p.Leu452Phe)
|
|
|
NM_004006.3(DMD):c.1357C>T (p.Gln453Ter)
|
rs2057404615
|
|
NM_004006.3(DMD):c.1359G>A (p.Gln453=)
|
|
|
NM_004006.3(DMD):c.135G>A (p.Gln45=)
|
rs2149015372
|
|
NM_004006.3(DMD):c.1366A>T (p.Lys456Ter)
|
rs1556853298
|
|
NM_004006.3(DMD):c.1371G>C (p.Leu457=)
|
rs2149350281
|
|
NM_004006.3(DMD):c.1374A>G (p.Lys458=)
|
rs1057520902
|
|
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)
|
rs2149350253
|
|
NM_004006.3(DMD):c.1377G>A (p.Glu459=)
|
rs2149350233
|
|
NM_004006.3(DMD):c.1378T>C (p.Leu460=)
|
rs746640758
|
|
NM_004006.3(DMD):c.137A>T (p.Asp46Val)
|
rs398123858
|
|
NM_004006.3(DMD):c.1383dup (p.Asp462Ter)
|
rs2149350194
|
|
NM_004006.3(DMD):c.1385_1388del (p.Asp462fs)
|
rs2149350164
|
|
NM_004006.3(DMD):c.1386C>G (p.Asp462Glu)
|
|
|
NM_004006.3(DMD):c.1389G>A (p.Trp463Ter)
|
rs2149350132
|
|
NM_004006.3(DMD):c.1392A>G (p.Leu464=)
|
|
|
NM_004006.3(DMD):c.1396A>C (p.Lys466Gln)
|
rs2149350103
|
|
NM_004006.3(DMD):c.1399A>T (p.Thr467Ser)
|
rs1556853254
|
|
NM_004006.3(DMD):c.139G>A (p.Gly47Arg)
|
rs1557084183
|
|
NM_004006.3(DMD):c.139G>T (p.Gly47Trp)
|
rs1557084183
|
|
NM_004006.3(DMD):c.1401A>C (p.Thr467=)
|
|
|
NM_004006.3(DMD):c.1401A>G (p.Thr467=)
|
|
|
NM_004006.3(DMD):c.1402G>C (p.Glu468Gln)
|
|
|
NM_004006.3(DMD):c.1402_1406del (p.Glu468fs)
|
rs2149350038
|
|
NM_004006.3(DMD):c.1412C>A (p.Thr471Lys)
|
|
|
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile)
|
rs201058100
|
|
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)
|
rs886042499
|
|
NM_004006.3(DMD):c.141dup (p.Arg48fs)
|
rs1569533965
|
|
NM_004006.3(DMD):c.1429G>T (p.Glu477Ter)
|
rs1357942538
|
|
NM_004006.3(DMD):c.142dup (p.Arg48fs)
|
rs2149015246
|
|
NM_004006.3(DMD):c.1431G>A (p.Glu477=)
|
rs1003165905
|
|
NM_004006.3(DMD):c.1433del (p.Pro478fs)
|
rs2149349862
|
|
NM_004006.3(DMD):c.1438G>T (p.Gly480Ter)
|
rs128626240
|
|
NM_004006.3(DMD):c.1439G>C (p.Gly480Ala)
|
rs1569310654
|
|
NM_004006.3(DMD):c.143G>A (p.Arg48Lys)
|
|
|
NM_004006.3(DMD):c.1440A>C (p.Gly480=)
|
|
|
NM_004006.3(DMD):c.1442C>G (p.Pro481Arg)
|
|
|
NM_004006.3(DMD):c.1442C>T (p.Pro481Leu)
|
|
|
NM_004006.3(DMD):c.1444G>T (p.Asp482Tyr)
|
|
|
NM_004006.3(DMD):c.1445A>G (p.Asp482Gly)
|
rs2149349765
|
|
NM_004006.3(DMD):c.1447C>A (p.Leu483Ile)
|
|
|
NM_004006.3(DMD):c.1447C>T (p.Leu483Phe)
|
|
|
NM_004006.3(DMD):c.1456C>T (p.Leu486=)
|
rs747050537
|
|
NM_004006.3(DMD):c.1458A>T (p.Leu486=)
|
|
|
NM_004006.3(DMD):c.1463G>T (p.Arg488Leu)
|
rs794727065
|
|
NM_004006.3(DMD):c.1467A>G (p.Gln489=)
|
|
|
NM_004006.3(DMD):c.1467_1470del (p.Gln489fs)
|
|
|
NM_004006.3(DMD):c.1470ACA[2] (p.Gln492del)
|
rs2149349491
|
|
NM_004006.3(DMD):c.1471C>G (p.Gln491Glu)
|
|
|
NM_004006.3(DMD):c.1474C>T (p.Gln492Ter)
|
rs2149349537
|
|
NM_004006.3(DMD):c.1476del (p.Gln492fs)
|
rs1556853039
|
|
NM_004006.3(DMD):c.1477C>T (p.His493Tyr)
|
|
|
NM_004006.3(DMD):c.1478A>G (p.His493Arg)
|
|
|
NM_004006.3(DMD):c.147C>T (p.Arg49=)
|
rs2149015136
|
|
NM_004006.3(DMD):c.1481A>G (p.Lys494Arg)
|
rs1556853018
|
|
NM_004006.3(DMD):c.1482+11C>T
|
|
|
NM_004006.3(DMD):c.1482+14A>C
|
rs2149349342
|
|
NM_004006.3(DMD):c.1482+14A>G
|
|
|
NM_004006.3(DMD):c.1482+19G>A
|
|
|
NM_004006.3(DMD):c.1482+1G>T
|
rs398123862
|
|
NM_004006.3(DMD):c.1482+1del
|
rs2149349423
|
|
NM_004006.3(DMD):c.1482+7_1482+12dup
|
|
|
NM_004006.3(DMD):c.1482+9A>G
|
rs2057395101
|
|
NM_004006.3(DMD):c.1483-15C>T
|
|
|
NM_004006.3(DMD):c.1483-18A>T
|
|
|
NM_004006.3(DMD):c.1483-1G>C
|
rs863224982
|
|
NM_004006.3(DMD):c.1483-1G>T
|
rs863224982
|
|
NM_004006.3(DMD):c.1483-41_1483-9del
|
rs2149265234
|
|
NM_004006.3(DMD):c.1483-7C>T
|
rs112463388
|
|
NM_004006.3(DMD):c.1483-9A>G
|
rs2149265227
|
|
NM_004006.3(DMD):c.1483-9A>T
|
|
|
NM_004006.3(DMD):c.1483G>T (p.Val495Leu)
|
rs754176290
|
|
NM_004006.3(DMD):c.1485G>A (p.Val495=)
|
rs1601995262
|
|
NM_004006.3(DMD):c.1486C>T (p.Leu496Phe)
|
rs1190770957
|
|
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)
|
rs128626241
|
|
NM_004006.3(DMD):c.1491A>G (p.Gln497=)
|
rs2149265146
|
|
NM_004006.3(DMD):c.1494A>C (p.Glu498Asp)
|
|
|
NM_004006.3(DMD):c.1494A>T (p.Glu498Asp)
|
|
|
NM_004006.3(DMD):c.1498C>G (p.Leu500Val)
|
|
|
NM_004006.3(DMD):c.149T>A (p.Leu50His)
|
rs1557084149
|
|
NM_004006.3(DMD):c.14AAG[1] (p.Glu6del)
|
|
|
NM_004006.3(DMD):c.1500A>G (p.Leu500=)
|
rs2149265126
|
|
NM_004006.3(DMD):c.1501G>T (p.Glu501Ter)
|
rs2055461260
|
|
NM_004006.3(DMD):c.1502A>G (p.Glu501Gly)
|
rs2149265107
|
|
NM_004006.3(DMD):c.1504C>T (p.Gln502Ter)
|
rs878854618
|
|
NM_004006.3(DMD):c.1506A>G (p.Gln502=)
|
rs2149265060
|
|
NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)
|
rs2149265022
|
|
NM_004006.3(DMD):c.1514T>A (p.Val505Asp)
|
rs2055459221
|
|
NM_004006.3(DMD):c.1516A>C (p.Arg506=)
|
|
|
NM_004006.3(DMD):c.1517G>A (p.Arg506Lys)
|
|
|
NM_004006.3(DMD):c.1528C>T (p.Leu510Phe)
|
rs2055457774
|
|
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs)
|
rs398123863
|
|
NM_004006.3(DMD):c.152T>C (p.Leu51Pro)
|
rs886044089
|
|
NM_004006.3(DMD):c.1530C>A (p.Leu510=)
|
|
|
NM_004006.3(DMD):c.1530C>G (p.Leu510=)
|
rs2149264903
|
|
NM_004006.3(DMD):c.1530C>T (p.Leu510=)
|
|
|
NM_004006.3(DMD):c.1536C>T (p.His512=)
|
rs776446238
|
|
NM_004006.3(DMD):c.1537A>G (p.Met513Val)
|
rs368326458
|
|
NM_004006.3(DMD):c.1539G>C (p.Met513Ile)
|
rs2149264812
|
|
NM_004006.3(DMD):c.153dup (p.Asp52fs)
|
rs1557084128
|
|
NM_004006.3(DMD):c.1540G>T (p.Val514Leu)
|
|
|
NM_004006.3(DMD):c.1542G>C (p.Val514=)
|
rs1556834846
|
|
NM_004006.3(DMD):c.1545G>C (p.Val515=)
|
rs141590890
|
|
NM_004006.3(DMD):c.1545G>T (p.Val515=)
|
rs141590890
|
|
NM_004006.3(DMD):c.1548A>G (p.Val516=)
|
|
|
NM_004006.3(DMD):c.1548A>T (p.Val516=)
|
rs779579215
|
|
NM_004006.3(DMD):c.1550T>C (p.Val517Ala)
|
rs2149264721
|
|
NM_004006.3(DMD):c.1556A>G (p.Glu519Gly)
|
rs2149264689
|
|
NM_004006.3(DMD):c.1560T>C (p.Ser520=)
|
|
|
NM_004006.3(DMD):c.1561A>C (p.Ser521Arg)
|
|
|
NM_004006.3(DMD):c.1563T>G (p.Ser521Arg)
|
|
|
NM_004006.3(DMD):c.1564G>T (p.Gly522Ter)
|
rs778171516
|
|
NM_004006.3(DMD):c.1568A>T (p.Asp523Val)
|
|
|
NM_004006.3(DMD):c.156C>T (p.Asp52=)
|
rs2149015032
|
|
NM_004006.3(DMD):c.1574C>A (p.Ala525Glu)
|
rs2149264563
|
|
NM_004006.3(DMD):c.1577del (p.Thr526fs)
|
rs1569273905
|
|
NM_004006.3(DMD):c.1582G>T (p.Ala528Ser)
|
|
|
NM_004006.3(DMD):c.1591G>T (p.Glu531Ter)
|
rs2149264484
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
NM_004006.3(DMD):c.1597C>G (p.Leu533Val)
|
rs1556834538
|
|
NM_004006.3(DMD):c.1597C>T (p.Leu533Phe)
|
rs1556834538
|
|
NM_004006.3(DMD):c.1599T>A (p.Leu533=)
|
rs2149264428
|
|
NM_004006.3(DMD):c.159C>T (p.Leu53=)
|
rs762245872
|
|
NM_004006.3(DMD):c.1601A>C (p.Lys534Thr)
|
rs760874706
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
NM_004006.3(DMD):c.1602+4A>C
|
rs2149264363
|
|
NM_004006.3(DMD):c.1602+5G>T
|
rs2149264352
|
|
NM_004006.3(DMD):c.1602G>A (p.Lys534=)
|
rs1556834513
|
|
NM_004006.3(DMD):c.1603-12T>A
|
|
|
NM_004006.3(DMD):c.1603-15T>C
|
|
|
NM_004006.3(DMD):c.1603-17G>T
|
|
|
NM_004006.3(DMD):c.1603-2A>G
|
rs773779441
|
|
NM_004006.3(DMD):c.1603-2A>T
|
rs773779441
|
|
NM_004006.3(DMD):c.1603-4C>G
|
rs377223643
|
|
NM_004006.3(DMD):c.1603-8T>C
|
|
|
NM_004006.3(DMD):c.1603-9C>G
|
|
|
NM_004006.3(DMD):c.1603G>A (p.Val535Ile)
|
rs2052711854
|
|
NM_004006.3(DMD):c.1605A>G (p.Val535=)
|
|
|
NM_004006.3(DMD):c.1608G>A (p.Leu536=)
|
rs2052711395
|
|
NM_004006.3(DMD):c.1614T>A (p.Asp538Glu)
|
rs1430002641
|
|
NM_004006.3(DMD):c.1614_1615delinsGT (p.Asp538_Arg539delinsGluTer)
|
|
|
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)
|
rs398123865
|
|
NM_004006.3(DMD):c.1619G>A (p.Trp540Ter)
|
rs1569230406
|
|
NM_004006.3(DMD):c.1621G>T (p.Ala541Ser)
|
|
|
NM_004006.3(DMD):c.1627A>T (p.Ile543Phe)
|
rs2149138828
|
|
NM_004006.3(DMD):c.1629C>A (p.Ile543=)
|
rs2052709240
|
|
NM_004006.3(DMD):c.1629C>T (p.Ile543=)
|
|
|
NM_004006.3(DMD):c.162C>A (p.Leu54=)
|
rs904011265
|
|
NM_004006.3(DMD):c.1632T>C (p.Cys544=)
|
|
|
NM_004006.3(DMD):c.1635A>T (p.Arg545Ser)
|
rs5927083
|
|
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)
|
rs1057518962
|
|
NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)
|
rs1569230293
|
|
NM_004006.3(DMD):c.1639A>G (p.Thr547Ala)
|
rs2052707401
|
|
NM_004006.3(DMD):c.163G>A (p.Glu55Lys)
|
rs1603448406
|
|
NM_004006.3(DMD):c.163G>T (p.Glu55Ter)
|
rs1603448406
|
|
NM_004006.3(DMD):c.1641A>G (p.Thr547=)
|
rs1394724423
|
|
NM_004006.3(DMD):c.1644A>G (p.Glu548=)
|
rs2149138602
|
|
NM_004006.3(DMD):c.1644del (p.Asp549fs)
|
|
|
NM_004006.3(DMD):c.1647C>A (p.Asp549Glu)
|
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.1659T>G (p.Leu553=)
|
|
|
NM_004006.3(DMD):c.165A>G (p.Glu55=)
|
|
|
NM_004006.3(DMD):c.1662A>G (p.Leu554=)
|
|
|
NM_004006.3(DMD):c.1667A>T (p.Asp556Val)
|
|
|
NM_004006.3(DMD):c.1671C>A (p.Ile557=)
|
rs1159051532
|
|
NM_004006.3(DMD):c.1671C>T (p.Ile557=)
|
rs1159051532
|
|
NM_004006.3(DMD):c.167G>T (p.Gly56Val)
|
rs2149014905
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.168C>T (p.Gly56=)
|
rs2149014882
|
|
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)
|
rs766450050
|
|
NM_004006.3(DMD):c.1696G>T (p.Glu566Ter)
|
rs2149138125
|
|
NM_004006.3(DMD):c.169C>T (p.Leu57=)
|
|
|
NM_004006.3(DMD):c.1703A>T (p.Gln568Leu)
|
|
|
NM_004006.3(DMD):c.1703del (p.Gln568fs)
|
rs2052700227
|
|
NM_004006.3(DMD):c.1704+10G>A
|
|
|
NM_004006.3(DMD):c.1704+13T>G
|
|
|
NM_004006.3(DMD):c.1704+18A>T
|
|
|
NM_004006.3(DMD):c.1704+1G>A
|
rs794727123
|
|
NM_004006.3(DMD):c.1704+1G>T
|
rs794727123
|
|
NM_004006.3(DMD):c.1704+7C>T
|
rs2149137956
|
|
NM_004006.3(DMD):c.1704+8_1704+9del
|
rs1556810175
|
|
NM_004006.3(DMD):c.1704G>C (p.Gln568His)
|
rs1601810379
|
|
NM_004006.3(DMD):c.1705-11A>G
|
|
|
NM_004006.3(DMD):c.1705-13T>C
|
|
|
NM_004006.3(DMD):c.1705-15T>G
|
|
|
NM_004006.3(DMD):c.1705-16_1705-14del
|
|
|
NM_004006.3(DMD):c.1705-18T>G
|
rs2149137321
|
|
NM_004006.3(DMD):c.1705-1G>T
|
rs878854619
|
|
NM_004006.3(DMD):c.1705-2A>G
|
rs1601809011
|
|
NM_004006.3(DMD):c.1705-4G>A
|
rs889499438
|
|
NM_004006.3(DMD):c.1705-9G>A
|
|
|
NM_004006.3(DMD):c.1705-9G>T
|
|
|
NM_004006.3(DMD):c.1708del (p.Leu570fs)
|
rs2149137188
|
|
NM_004006.3(DMD):c.1710T>A (p.Leu570=)
|
|
|
NM_004006.3(DMD):c.1710T>G (p.Leu570=)
|
|
|
NM_004006.3(DMD):c.1711T>G (p.Phe571Val)
|
rs2149137178
|
|
NM_004006.3(DMD):c.1716T>A (p.Ser572Arg)
|
|
|
NM_004006.3(DMD):c.1719A>G (p.Ala573=)
|
rs2149137079
|
|
NM_004006.3(DMD):c.1721G>A (p.Trp574Ter)
|
rs2149137069
|
|
NM_004006.3(DMD):c.1728A>G (p.Ser576=)
|
|
|
NM_004006.3(DMD):c.1736A>C (p.Glu579Ala)
|
|
|
NM_004006.3(DMD):c.1737A>G (p.Glu579=)
|
rs2052677189
|
|
NM_004006.3(DMD):c.1744G>T (p.Val582Leu)
|
|
|
NM_004006.3(DMD):c.1745T>A (p.Val582Glu)
|
rs1556809842
|
|
NM_004006.3(DMD):c.1746G>T (p.Val582=)
|
|
|
NM_004006.3(DMD):c.1748A>G (p.Asn583Ser)
|
|
|
NM_004006.3(DMD):c.1750A>C (p.Lys584Gln)
|
rs1601808608
|
|
NM_004006.3(DMD):c.1760C>T (p.Thr587Ile)
|
rs2052673481
|
|
NM_004006.3(DMD):c.1761A>T (p.Thr587=)
|
|
|
NM_004006.3(DMD):c.1762A>G (p.Thr588Ala)
|
rs1569229278
|
|
NM_004006.3(DMD):c.1767C>T (p.Gly589=)
|
rs2149136648
|
|
NM_004006.3(DMD):c.1769T>A (p.Phe590Tyr)
|
|
|
NM_004006.3(DMD):c.1776T>C (p.Asp592=)
|
|
|
NM_004006.3(DMD):c.1783G>T (p.Glu595Ter)
|
rs2149136473
|
|
NM_004006.3(DMD):c.1785A>G (p.Glu595=)
|
|
|
NM_004006.3(DMD):c.1786A>G (p.Met596Val)
|
rs2052669974
|
|
NM_004006.3(DMD):c.1788G>A (p.Met596Ile)
|
rs2052669244
|
|
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)
|
rs128626233
|
|
NM_004006.3(DMD):c.178del (p.Gln60fs)
|
rs2080979223
|
|
NM_004006.3(DMD):c.1795del (p.Ser599fs)
|
rs1556809704
|
|
NM_004006.3(DMD):c.1807C>A (p.Leu603Met)
|
|
|
NM_004006.3(DMD):c.1812+16del
|
|
|
NM_004006.3(DMD):c.1812+17T>A
|
rs2149136061
|
|
NM_004006.3(DMD):c.1812+19T>G
|
rs917293982
|
|
NM_004006.3(DMD):c.1812+1G>T
|
|
|
NM_004006.3(DMD):c.1812+7A>G
|
rs1407742966
|
|
NM_004006.3(DMD):c.1812+8C>T
|
|
|
NM_004006.3(DMD):c.1813-10G>A
|
rs2149095769
|
|
NM_004006.3(DMD):c.1813-12T>C
|
|
|
NM_004006.3(DMD):c.1813-12T>G
|
rs1260140947
|
|
NM_004006.3(DMD):c.1813-17C>A
|
|
|
NM_004006.3(DMD):c.1813-18T>C
|
|
|
NM_004006.3(DMD):c.1813-3C>T
|
rs181399181
|
|
NM_004006.3(DMD):c.1813-4A>T
|
|
|
NM_004006.3(DMD):c.1813-5A>G
|
|
|
NM_004006.3(DMD):c.1813-6T>C
|
rs902098014
|
|
NM_004006.3(DMD):c.1813-7T>A
|
rs2149095759
|
|
NM_004006.3(DMD):c.1813-8_1813-6del
|
rs750014233
|
|
NM_004006.3(DMD):c.1814T>A (p.Val605Asp)
|
|
|
NM_004006.3(DMD):c.1819A>G (p.Lys607Glu)
|
|
|
NM_004006.3(DMD):c.1821A>G (p.Lys607=)
|
|
|
NM_004006.3(DMD):c.1824G>T (p.Ala608=)
|
rs151013182
|
|
NM_004006.3(DMD):c.1827T>C (p.Asp609=)
|
|
|
NM_004006.3(DMD):c.1835A>G (p.Lys612Arg)
|
|
|
NM_004006.3(DMD):c.1835A>T (p.Lys612Met)
|
|
|
NM_004006.3(DMD):c.1837A>T (p.Lys613Ter)
|
rs1302764635
|
|
NM_004006.3(DMD):c.1838A>G (p.Lys613Arg)
|
|
|
NM_004006.3(DMD):c.1839A>G (p.Lys613=)
|
|
|
NM_004006.3(DMD):c.183dup (p.Leu62fs)
|
rs2080978755
|
|
NM_004006.3(DMD):c.1842G>A (p.Lys614=)
|
rs2149095471
|
|
NM_004006.3(DMD):c.1843C>T (p.Gln615Ter)
|
rs2149095456
|
|
NM_004006.3(DMD):c.1847C>T (p.Ser616Phe)
|
|
|
NM_004006.3(DMD):c.1848C>T (p.Ser616=)
|
|
|
NM_004006.3(DMD):c.1851G>A (p.Met617Ile)
|
rs1238073206
|
|
NM_004006.3(DMD):c.1855A>T (p.Lys619Ter)
|
rs2051636517
|
|
NM_004006.3(DMD):c.1857A>G (p.Lys619=)
|
rs2149095350
|
|
NM_004006.3(DMD):c.1858C>A (p.Leu620Met)
|
|
|
NM_004006.3(DMD):c.1858C>T (p.Leu620=)
|
|
|
NM_004006.3(DMD):c.186+12A>G
|
|
|
NM_004006.3(DMD):c.186+17dup
|
|
|
NM_004006.3(DMD):c.186+19A>G
|
|
|
NM_004006.3(DMD):c.186+1G>A
|
rs1557084067
|
|
NM_004006.3(DMD):c.186+20G>C
|
|
|
NM_004006.3(DMD):c.186+3A>C
|
|
|
NM_004006.3(DMD):c.186+7G>A
|
rs1603448401
|
|
NM_004006.3(DMD):c.186+8A>C
|
rs1603448399
|
|
NM_004006.3(DMD):c.1860G>A (p.Leu620=)
|
rs1265879659
|
|
NM_004006.3(DMD):c.1860G>T (p.Leu620=)
|
|
|
NM_004006.3(DMD):c.1865C>A (p.Ser622Ter)
|
rs886041344
|
|
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)
|
rs886041344
|
|
NM_004006.3(DMD):c.1869C>G (p.Leu623=)
|
rs1800267
|
|
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.187-13G>A
|
|
|
NM_004006.3(DMD):c.187-13_187-11del
|
|
|
NM_004006.3(DMD):c.187-14T>G
|
|
|
NM_004006.3(DMD):c.187-14del
|
|
|
NM_004006.3(DMD):c.187-15_187-14del
|
|
|
NM_004006.3(DMD):c.187-18C>A
|
|
|
NM_004006.3(DMD):c.187-18C>G
|
|
|
NM_004006.3(DMD):c.187-19T>A
|
|
|
NM_004006.3(DMD):c.187-19T>C
|
|
|
NM_004006.3(DMD):c.187-1G>T
|
rs1603447081
|
|
NM_004006.3(DMD):c.187-20C>A
|
|
|
NM_004006.3(DMD):c.187-20C>T
|
|
|
NM_004006.3(DMD):c.187-2A>G
|
rs2080514041
|
|
NM_004006.3(DMD):c.1873C>T (p.Gln625Ter)
|
rs2051634469
|
|
NM_004006.3(DMD):c.1877A>T (p.Asp626Val)
|
rs1569214355
|
|
NM_004006.3(DMD):c.187C>T (p.Pro63Ser)
|
rs1386946939
|
|
NM_004006.3(DMD):c.1881T>G (p.Leu627=)
|
rs2149095226
|
|
NM_004006.3(DMD):c.1884T>G (p.Leu628=)
|
rs2149095192
|
|
NM_004006.3(DMD):c.1889C>A (p.Thr630Lys)
|
rs1057523223
|
|
NM_004006.3(DMD):c.1892T>C (p.Leu631Pro)
|
|
|
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
|
rs1603636541
|
|
NM_004006.3(DMD):c.1897A>T (p.Asn633Tyr)
|
rs757047592
|
|
NM_004006.3(DMD):c.1899T>C (p.Asn633=)
|
|
|
NM_004006.3(DMD):c.189A>T (p.Pro63=)
|
rs1603447077
|
|
NM_004006.3(DMD):c.18A>G (p.Glu6=)
|
rs2148864152
|
|
NM_004006.3(DMD):c.1905A>T (p.Ser635=)
|
|
|
NM_004006.3(DMD):c.1910C>T (p.Thr637Ile)
|
|
|
NM_004006.3(DMD):c.1911C>A (p.Thr637=)
|
rs928561454
|
|
NM_004006.3(DMD):c.1915A>C (p.Lys639Gln)
|
rs2149094935
|
|
NM_004006.3(DMD):c.1918A>T (p.Thr640Ser)
|
rs2149094920
|
|
NM_004006.3(DMD):c.1923A>G (p.Glu641=)
|
rs2149094887
|
|
NM_004006.3(DMD):c.1926A>G (p.Ala642=)
|
rs1060504678
|
|
NM_004006.3(DMD):c.1931T>C (p.Leu644Pro)
|
|
|
NM_004006.3(DMD):c.1932G>C (p.Leu644=)
|
rs1385046896
|
|
NM_004006.3(DMD):c.1938C>T (p.Asn646=)
|
|
|
NM_004006.3(DMD):c.193G>C (p.Glu65Gln)
|
rs2148984839
|
|
NM_004006.3(DMD):c.1944C>T (p.Ala648=)
|
|
|
NM_004006.3(DMD):c.1946G>C (p.Arg649Pro)
|
rs749004200
|
|
NM_004006.3(DMD):c.1946G>T (p.Arg649Leu)
|
|
|
NM_004006.3(DMD):c.1947G>T (p.Arg649=)
|
rs1603636539
|
|
NM_004006.3(DMD):c.1949G>T (p.Cys650Phe)
|
rs2149094726
|
|
NM_004006.3(DMD):c.1952G>A (p.Trp651Ter)
|
rs128626242
|
|
NM_004006.3(DMD):c.1961T>A (p.Leu654Ter)
|
rs1057518312
|
|
NM_004006.3(DMD):c.1961T>C (p.Leu654Ser)
|
rs1057518312
|
|
NM_004006.3(DMD):c.1965C>A (p.Val655=)
|
rs1255068879
|
|
NM_004006.3(DMD):c.1972C>T (p.Leu658Phe)
|
rs2051622052
|
|
NM_004006.3(DMD):c.1975G>C (p.Glu659Gln)
|
|
|
NM_004006.3(DMD):c.1975G>T (p.Glu659Ter)
|
|
|
NM_004006.3(DMD):c.1979del (p.Lys660fs)
|
rs1569213903
|
|
NM_004006.3(DMD):c.1979dup (p.Ser661fs)
|
|
|
NM_004006.3(DMD):c.1980G>C (p.Lys660Asn)
|
rs2149094500
|
|
NM_004006.3(DMD):c.1982G>T (p.Ser661Ile)
|
rs2149094479
|
|
NM_004006.3(DMD):c.1983T>A (p.Ser661Arg)
|
|
|
NM_004006.3(DMD):c.1983T>C (p.Ser661=)
|
rs1603636536
|
|
NM_004006.3(DMD):c.1983dup (p.Thr662fs)
|
rs2149094471
|
|
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)
|
rs398123870
|
|
NM_004006.3(DMD):c.1991A>G (p.Gln664Arg)
|
|
|
NM_004006.3(DMD):c.1992+12del
|
|
|
NM_004006.3(DMD):c.1992+13A>T
|
|
|
NM_004006.3(DMD):c.1992+14A>G
|
|
|
NM_004006.3(DMD):c.1992+15T>C
|
|
|
NM_004006.3(DMD):c.1992+1G>T
|
rs1556802319
|
|
NM_004006.3(DMD):c.1992+20A>G
|
|
|
NM_004006.3(DMD):c.1992+20A>T
|
|
|
NM_004006.3(DMD):c.1992+4A>T
|
|
|
NM_004006.3(DMD):c.1992+5G>A
|
|
|
NM_004006.3(DMD):c.1992+8A>G
|
|
|
NM_004006.3(DMD):c.1993-10C>A
|
|
|
NM_004006.3(DMD):c.1993-10C>T
|
rs1226290209
|
|
NM_004006.3(DMD):c.1993-12T>C
|
rs2148960589
|
|
NM_004006.3(DMD):c.1993-13A>G
|
|
|
NM_004006.3(DMD):c.1993-15C>T
|
|
|
NM_004006.3(DMD):c.1993-1G>A
|
|
|
NM_004006.3(DMD):c.1993-20T>G
|
|
|
NM_004006.3(DMD):c.1993-21_1993-20del
|
rs2148960632
|
|
NM_004006.3(DMD):c.1993-2A>G
|
|
|
NM_004006.3(DMD):c.1993-5C>T
|
|
|
NM_004006.3(DMD):c.1993-5CA[4]
|
rs761270890
|
|
NM_004006.3(DMD):c.1993-7C>G
|
rs1312369324
|
|
NM_004006.3(DMD):c.1993-7C>T
|
|
|
NM_004006.3(DMD):c.1998A>T (p.Ser666=)
|
rs1289591017
|
|
NM_004006.3(DMD):c.199G>A (p.Gly67Arg)
|
rs398123871
|
|
NM_004006.3(DMD):c.19del (p.Glu6_Val7insTer)
|
rs1557300135
|
|
NM_004006.3(DMD):c.2007C>T (p.Val669=)
|
|
|
NM_004006.3(DMD):c.2008A>T (p.Thr670Ser)
|
rs1476533504
|
|
NM_004006.3(DMD):c.2010C>T (p.Thr670=)
|
rs1603635956
|
|
NM_004006.3(DMD):c.2013C>T (p.Thr671=)
|
|
|
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)
|
rs128626232
|
|
NM_004006.3(DMD):c.2017_2027del (p.Gln673fs)
|
rs2148960326
|
|
NM_004006.3(DMD):c.201A>C (p.Gly67=)
|
|
|
NM_004006.3(DMD):c.2022A>T (p.Pro674=)
|
rs2148960341
|
|
NM_004006.3(DMD):c.2025A>T (p.Ser675=)
|
|
|
NM_004006.3(DMD):c.2028A>G (p.Leu676=)
|
rs2048864976
|
|
NM_004006.3(DMD):c.2031A>C (p.Thr677=)
|
|
|
NM_004006.3(DMD):c.2031A>G (p.Thr677=)
|
rs2148960297
|
|
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)
|
rs398123872
|
|
NM_004006.3(DMD):c.2032_2033del (p.Gln678fs)
|
rs398123873
|
|
NM_004006.3(DMD):c.2033A>G (p.Gln678Arg)
|
rs755805024
|
|
NM_004006.3(DMD):c.2036C>A (p.Thr679Lys)
|
|
|
NM_004006.3(DMD):c.2037A>G (p.Thr679=)
|
rs2148960188
|
|
NM_004006.3(DMD):c.2040T>C (p.Thr680=)
|
rs2148960126
|
|
NM_004006.3(DMD):c.2043A>G (p.Val681=)
|
rs2048863086
|
|
NM_004006.3(DMD):c.2043A>T (p.Val681=)
|
|
|
NM_004006.3(DMD):c.204C>G (p.Ser68=)
|
|
|
NM_004006.3(DMD):c.2050del (p.Thr684fs)
|
|
|
NM_004006.3(DMD):c.2052A>G (p.Thr684=)
|
|
|
NM_004006.3(DMD):c.2052_2053del (p.Val685fs)
|
rs886043699
|
|
NM_004006.3(DMD):c.2053G>T (p.Val685Leu)
|
rs1603635954
|
|
NM_004006.3(DMD):c.2057C>T (p.Thr686Ile)
|
rs2148959991
|
|
NM_004006.3(DMD):c.2058T>A (p.Thr686=)
|
|
|
NM_004006.3(DMD):c.2059A>T (p.Thr687Ser)
|
|
|
NM_004006.3(DMD):c.205del (p.Thr69fs)
|
|
|
NM_004006.3(DMD):c.2060C>G (p.Thr687Arg)
|
|
|
NM_004006.3(DMD):c.2060del (p.Thr687fs)
|
|
|
NM_004006.3(DMD):c.2061G>A (p.Thr687=)
|
|
|
NM_004006.3(DMD):c.2061G>C (p.Thr687=)
|
rs1057523030
|
|
NM_004006.3(DMD):c.2062G>A (p.Val688Met)
|
rs2148959937
|
|
NM_004006.3(DMD):c.2066C>A (p.Thr689Asn)
|
rs2048861309
|
|
NM_004006.3(DMD):c.2066C>T (p.Thr689Ile)
|
rs2048861309
|
|
NM_004006.3(DMD):c.2074_2086del (p.Arg691_Glu692insTer)
|
rs2148959744
|
|
NM_004006.3(DMD):c.2076dup (p.Gln693fs)
|
rs1060502635
|
|
NM_004006.3(DMD):c.2077C>T (p.Gln693Ter)
|
rs1060502661
|
|
NM_004006.3(DMD):c.2079G>A (p.Gln693=)
|
rs761441684
|
|
NM_004006.3(DMD):c.2082C>A (p.Ile694=)
|
rs2048859368
|
|
NM_004006.3(DMD):c.2084T>C (p.Leu695Pro)
|
|
|
NM_004006.3(DMD):c.2097T>C (p.Ala699=)
|
|
|
NM_004006.3(DMD):c.2098C>G (p.Gln700Glu)
|
|
|
NM_004006.3(DMD):c.2099A>C (p.Gln700Pro)
|
|
|
NM_004006.3(DMD):c.2106A>T (p.Glu702Asp)
|
|
|
NM_004006.3(DMD):c.2107C>A (p.Leu703Ile)
|
|
|
NM_004006.3(DMD):c.2112A>C (p.Pro704=)
|
|
|
NM_004006.3(DMD):c.2119C>G (p.Pro707Ala)
|
|
|
NM_004006.3(DMD):c.2121T>A (p.Pro707=)
|
rs1603635948
|
|
NM_004006.3(DMD):c.2121T>G (p.Pro707=)
|
rs1603635948
|
|
NM_004006.3(DMD):c.2122C>A (p.Pro708Thr)
|
|
|
NM_004006.3(DMD):c.2124C>A (p.Pro708=)
|
rs779983579
|
|
NM_004006.3(DMD):c.2125C>T (p.Gln709Ter)
|
rs2148959323
|
|
NM_004006.3(DMD):c.2126A>G (p.Gln709Arg)
|
|
|
NM_004006.3(DMD):c.2126A>T (p.Gln709Leu)
|
rs370459675
|
|
NM_004006.3(DMD):c.2127A>G (p.Gln709=)
|
|
|
NM_004006.3(DMD):c.2129del (p.Lys710fs)
|
rs1569169560
|
|
NM_004006.3(DMD):c.2130G>T (p.Lys710Asn)
|
rs1209997926
|
|
NM_004006.3(DMD):c.2132del (p.Lys711fs)
|
rs1556780579
|
|
NM_004006.3(DMD):c.2133G>A (p.Lys711=)
|
rs1460468240
|
|
NM_004006.3(DMD):c.2136G>A (p.Arg712=)
|
rs2148959198
|
|
NM_004006.3(DMD):c.2143A>C (p.Thr715Pro)
|
rs16998350
|
|
NM_004006.3(DMD):c.2150A>T (p.Asp717Val)
|
rs2048851376
|
|
NM_004006.3(DMD):c.2155G>C (p.Glu719Gln)
|
|
|
NM_004006.3(DMD):c.2166A>T (p.Lys722Asn)
|
|
|
NM_004006.3(DMD):c.2168+10T>G
|
|
|
NM_004006.3(DMD):c.2168+11C>G
|
rs376214348
|
|
NM_004006.3(DMD):c.2168+12T>A
|
|
|
NM_004006.3(DMD):c.2168+17C>T
|
|
|
NM_004006.3(DMD):c.2168+18T>G
|
|
|
NM_004006.3(DMD):c.2168+1G>A
|
rs1057518207
|
|
NM_004006.3(DMD):c.2168+20T>G
|
|
|
NM_004006.3(DMD):c.2168+2T>C
|
|
|
NM_004006.3(DMD):c.2168+7G>A
|
|
|
NM_004006.3(DMD):c.2168+8C>T
|
rs1197531055
|
|
NM_004006.3(DMD):c.2168+9A>G
|
rs2148958962
|
|
NM_004006.3(DMD):c.2169-10G>A
|
|
|
NM_004006.3(DMD):c.2169-10G>T
|
|
|
NM_004006.3(DMD):c.2169-10del
|
|
|
NM_004006.3(DMD):c.2169-11del
|
|
|
NM_004006.3(DMD):c.2169-14T>A
|
|
|
NM_004006.3(DMD):c.2169-18T>C
|
|
|
NM_004006.3(DMD):c.2169-19_2169-18del
|
rs773183927
|
|
NM_004006.3(DMD):c.2169-20T>A
|
|
|
NM_004006.3(DMD):c.2169-20T>G
|
|
|
NM_004006.3(DMD):c.2169-2A>T
|
rs2148805010
|
|
NM_004006.3(DMD):c.2169-4T>A
|
rs2148805046
|
|
NM_004006.3(DMD):c.2169-5C>A
|
|
|
NM_004006.3(DMD):c.2169-5C>G
|
rs2046042322
|
|
NM_004006.3(DMD):c.2169-7G>A
|
|
|
NM_004006.3(DMD):c.2169-7G>T
|
rs398123878
|
|
NM_004006.3(DMD):c.2169-7_2169-4del
|
rs746108360
|
|
NM_004006.3(DMD):c.2169-8T>C
|
rs2148805110
|
|
NM_004006.3(DMD):c.2169-9C>T
|
|
|
NM_004006.3(DMD):c.2171T>G (p.Leu724Trp)
|
rs2148804933
|
|
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr)
|
rs398123879
|
|
NM_004006.3(DMD):c.2175T>C (p.Asp725=)
|
rs2148804903
|
|
NM_004006.3(DMD):c.2176G>A (p.Val726Ile)
|
|
|
NM_004006.3(DMD):c.2176G>T (p.Val726Phe)
|
rs886044365
|
|
NM_004006.3(DMD):c.2185A>G (p.Thr729Ala)
|
|
|
NM_004006.3(DMD):c.2187_2188del (p.Glu730fs)
|
|
|
NM_004006.3(DMD):c.2190A>G (p.Glu730=)
|
|
|
NM_004006.3(DMD):c.2193T>G (p.Leu731=)
|
|
|
NM_004006.3(DMD):c.2194C>G (p.His732Asp)
|
rs2046039786
|
|
NM_004006.3(DMD):c.2195del (p.His732fs)
|
|
|
NM_004006.3(DMD):c.2195dup (p.His732fs)
|
rs1569565192
|
|
NM_004006.3(DMD):c.2196C>T (p.His732=)
|
rs1465455316
|
|
NM_004006.3(DMD):c.2201G>A (p.Trp734Ter)
|
|
|
NM_004006.3(DMD):c.2202G>A (p.Trp734Ter)
|
rs1060502636
|
|
NM_004006.3(DMD):c.2208T>A (p.Thr736=)
|
|
|
NM_004006.3(DMD):c.2208T>C (p.Thr736=)
|
|
|
NM_004006.3(DMD):c.2210G>T (p.Arg737Leu)
|
rs773358704
|
|
NM_004006.3(DMD):c.2211C>T (p.Arg737=)
|
|
|
NM_004006.3(DMD):c.2212T>C (p.Ser738Pro)
|
|
|
NM_004006.3(DMD):c.2213C>T (p.Ser738Leu)
|
|
|
NM_004006.3(DMD):c.2214A>G (p.Ser738=)
|
rs770003232
|
|
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)
|
rs863224985
|
|
NM_004006.3(DMD):c.2217A>G (p.Glu739=)
|
rs2148804488
|
|
NM_004006.3(DMD):c.2217A>T (p.Glu739Asp)
|
|
|
NM_004006.3(DMD):c.2222T>C (p.Val741Ala)
|
rs886039135
|
|
NM_004006.3(DMD):c.2223G>A (p.Val741=)
|
rs2148804428
|
|
NM_004006.3(DMD):c.2223G>T (p.Val741=)
|
|
|
NM_004006.3(DMD):c.2227C>T (p.Gln743Ter)
|
rs2046036327
|
|
NM_004006.3(DMD):c.2232T>C (p.Ser744=)
|
rs2148804367
|
|
NM_004006.3(DMD):c.2233C>T (p.Pro745Ser)
|
rs1435295333
|
|
NM_004006.3(DMD):c.2236G>C (p.Glu746Gln)
|
|
|
NM_004006.3(DMD):c.2237A>C (p.Glu746Ala)
|
|
|
NM_004006.3(DMD):c.2240T>C (p.Phe747Ser)
|
|
|
NM_004006.3(DMD):c.2241T>C (p.Phe747=)
|
rs2046035465
|
|
NM_004006.3(DMD):c.2244A>C (p.Ala748=)
|
|
|
NM_004006.3(DMD):c.224A>G (p.Asn75Ser)
|
rs2080508805
|
|
NM_004006.3(DMD):c.2252G>T (p.Arg751Leu)
|
|
|
NM_004006.3(DMD):c.2253G>A (p.Arg751=)
|
|
|
NM_004006.3(DMD):c.2253G>T (p.Arg751=)
|
|
|
NM_004006.3(DMD):c.2253del (p.Lys752fs)
|
rs2046034052
|
|
NM_004006.3(DMD):c.2256G>A (p.Lys752=)
|
|
|
NM_004006.3(DMD):c.2260G>A (p.Gly754Ser)
|
|
|
NM_004006.3(DMD):c.2263A>G (p.Asn755Asp)
|
|
|
NM_004006.3(DMD):c.2272G>T (p.Asp758Tyr)
|
|
|
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)
|
rs750526692
|
|
NM_004006.3(DMD):c.2273A>G (p.Asp758Gly)
|
rs750526692
|
|
NM_004006.3(DMD):c.2275T>A (p.Leu759Ile)
|
|
|
NM_004006.3(DMD):c.2276T>A (p.Leu759Ter)
|
rs1060502627
|
|
NM_004006.3(DMD):c.2276T>G (p.Leu759Ter)
|
rs1060502627
|
|
NM_004006.3(DMD):c.2279A>C (p.Lys760Thr)
|
|
|
NM_004006.3(DMD):c.2279A>G (p.Lys760Arg)
|
|
|
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs)
|
rs398123881
|
|
NM_004006.3(DMD):c.2282A>T (p.Glu761Val)
|
|
|
NM_004006.3(DMD):c.2284A>T (p.Lys762Ter)
|
|
|
NM_004006.3(DMD):c.2287G>A (p.Val763Ile)
|
rs2046031052
|
|
NM_004006.3(DMD):c.2288T>C (p.Val763Ala)
|
rs2046030879
|
|
NM_004006.3(DMD):c.2288T>G (p.Val763Gly)
|
|
|
NM_004006.3(DMD):c.2292+11C>T
|
|
|
NM_004006.3(DMD):c.2292+17T>G
|
|
|
NM_004006.3(DMD):c.2292+2T>C
|
rs1557396600
|
|
NM_004006.3(DMD):c.2292+8A>G
|
|
|
NM_004006.3(DMD):c.2292T>G (p.Asn764Lys)
|
|
|
NM_004006.3(DMD):c.2293-10C>T
|
rs2044088981
|
|
NM_004006.3(DMD):c.2293-12C>T
|
rs2148691888
|
|
NM_004006.3(DMD):c.2293-14C>T
|
|
|
NM_004006.3(DMD):c.2293-15G>T
|
rs369384547
|
|
NM_004006.3(DMD):c.2293-16T>C
|
rs2148691929
|
|
NM_004006.3(DMD):c.2293-19C>G
|
|
|
NM_004006.3(DMD):c.2293-4G>C
|
|
|
NM_004006.3(DMD):c.2293-6C>T
|
|
|
NM_004006.3(DMD):c.2293-7G>T
|
|
|
NM_004006.3(DMD):c.2293-9A>T
|
rs2148691845
|
|
NM_004006.3(DMD):c.2293G>A (p.Ala765Thr)
|
rs2044087804
|
|
NM_004006.3(DMD):c.2294_2297del (p.Ala765fs)
|
rs398123882
|
|
NM_004006.3(DMD):c.2298A>G (p.Ile766Met)
|
rs2044086464
|
|
NM_004006.3(DMD):c.2299G>T (p.Glu767Ter)
|
rs2148691615
|
|
NM_004006.3(DMD):c.22G>A (p.Glu8Lys)
|
rs2148864111
|
|
NM_004006.3(DMD):c.2301G>T (p.Glu767Asp)
|
rs2044086255
|
|
NM_004006.3(DMD):c.2302C>A (p.Arg768=)
|
rs201366610
|
|
NM_004006.3(DMD):c.2302C>G (p.Arg768Gly)
|
|
|
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)
|
rs201366610
|
|
NM_004006.3(DMD):c.2308A>T (p.Lys770Ter)
|
rs128626243
|
|
NM_004006.3(DMD):c.2315A>C (p.Glu772Ala)
|
|
|
NM_004006.3(DMD):c.2317A>T (p.Lys773Ter)
|
rs128626244
|
|
NM_004006.3(DMD):c.2318A>C (p.Lys773Thr)
|
rs2044083706
|
|
NM_004006.3(DMD):c.2328A>G (p.Lys776=)
|
rs1603634973
|
|
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)
|
rs794727226
|
|
NM_004006.3(DMD):c.2331G>A (p.Leu777=)
|
rs369659071
|
|
NM_004006.3(DMD):c.2331G>C (p.Leu777=)
|
rs369659071
|
|
NM_004006.3(DMD):c.2331G>T (p.Leu777=)
|
rs369659071
|
|
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)
|
rs398123883
|
|
NM_004006.3(DMD):c.2337T>C (p.Asp779=)
|
rs758795722
|
|
NM_004006.3(DMD):c.2337T>G (p.Asp779Glu)
|
|
|
NM_004006.3(DMD):c.2345G>A (p.Arg782Lys)
|
|
|
NM_004006.3(DMD):c.2353C>T (p.Gln785Ter)
|
rs2148691015
|
|
NM_004006.3(DMD):c.2354A>G (p.Gln785Arg)
|
rs2044079062
|
|
NM_004006.3(DMD):c.2358C>T (p.Ala786=)
|
|
|
NM_004006.3(DMD):c.2361G>C (p.Leu787=)
|
|
|
NM_004006.3(DMD):c.2363T>C (p.Val788Ala)
|
rs1603634972
|
|
NM_004006.3(DMD):c.2368C>T (p.Gln790Ter)
|
rs762860653
|
|
NM_004006.3(DMD):c.2375T>C (p.Val792Ala)
|
rs1014795303
|
|
NM_004006.3(DMD):c.2376G>A (p.Val792=)
|
rs2148690761
|
|
NM_004006.3(DMD):c.2380+10C>A
|
|
|
NM_004006.3(DMD):c.2380+11G>C
|
|
|
NM_004006.3(DMD):c.2380+11G>T
|
|
|
NM_004006.3(DMD):c.2380+11dup
|
|
|
NM_004006.3(DMD):c.2380+12A>G
|
|
|
NM_004006.3(DMD):c.2380+13G>A
|
rs2148690560
|
|
NM_004006.3(DMD):c.2380+14T>A
|
|
|
NM_004006.3(DMD):c.2380+14T>C
|
|
|
NM_004006.3(DMD):c.2380+1G>A
|
rs398123884
|
|
NM_004006.3(DMD):c.2380+1G>C
|
rs398123884
|
|
NM_004006.3(DMD):c.2380+20T>C
|
|
|
NM_004006.3(DMD):c.2380+3A>T
|
rs1569564916
|
|
NM_004006.3(DMD):c.2380+7A>G
|
rs1004796638
|
|
NM_004006.3(DMD):c.2380+7A>T
|
rs1004796638
|
|
NM_004006.3(DMD):c.2380G>T (p.Glu794Ter)
|
rs398123886
|
|
NM_004006.3(DMD):c.2381-11T>A
|
rs1557383843
|
|
NM_004006.3(DMD):c.2381-15T>G
|
|
|
NM_004006.3(DMD):c.2381-16del
|
|
|
NM_004006.3(DMD):c.2381-4C>A
|
|
|
NM_004006.3(DMD):c.2381-4C>T
|
|
|
NM_004006.3(DMD):c.2381-9del
|
rs1185543416
|
|
NM_004006.3(DMD):c.2381-9dup
|
rs1185543416
|
|
NM_004006.3(DMD):c.2388T>G (p.Val796=)
|
|
|
NM_004006.3(DMD):c.238dup (p.Ala80fs)
|
rs1557079469
|
|
NM_004006.3(DMD):c.2394A>G (p.Ala798=)
|
rs2148632774
|
|
NM_004006.3(DMD):c.2394A>T (p.Ala798=)
|
rs2148632774
|
|
NM_004006.3(DMD):c.2397T>C (p.Asp799=)
|
rs2148632755
|
|
NM_004006.3(DMD):c.2398A>G (p.Ser800Gly)
|
rs2042995122
|
|
NM_004006.3(DMD):c.2400C>A (p.Ser800Arg)
|
rs142115986
|
|
NM_004006.3(DMD):c.2400C>T (p.Ser800=)
|
rs142115986
|
|
NM_004006.3(DMD):c.2404A>C (p.Lys802Gln)
|
|
|
NM_004006.3(DMD):c.2405A>G (p.Lys802Arg)
|
|
|
NM_004006.3(DMD):c.2407C>A (p.Gln803Lys)
|
|
|
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter)
|
rs863224986
|
|
NM_004006.3(DMD):c.240A>C (p.Ala80=)
|
|
|
NM_004006.3(DMD):c.2412C>T (p.Ala804=)
|
rs2042993060
|
|
NM_004006.3(DMD):c.2415_2422del (p.Leu808fs)
|
rs2148632453
|
|
NM_004006.3(DMD):c.2418A>T (p.Glu806Asp)
|
rs1569564803
|
|
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)
|
rs398123888
|
|
NM_004006.3(DMD):c.2421A>C (p.Gln807His)
|
rs2042991906
|
|
NM_004006.3(DMD):c.2424G>A (p.Leu808=)
|
rs748257989
|
|
NM_004006.3(DMD):c.2428A>C (p.Ser810Arg)
|
|
|
NM_004006.3(DMD):c.2430C>T (p.Ser810=)
|
rs2148632345
|
|
NM_004006.3(DMD):c.2433G>A (p.Arg811=)
|
|
|
NM_004006.3(DMD):c.2434T>A (p.Trp812Arg)
|
rs1557383723
|
|
NM_004006.3(DMD):c.2439C>T (p.Ile813=)
|
|
|
NM_004006.3(DMD):c.2439del (p.Ile813fs)
|
rs2042990064
|
|
NM_004006.3(DMD):c.243G>C (p.Leu81=)
|
|
|
NM_004006.3(DMD):c.243G>T (p.Leu81=)
|
|
|
NM_004006.3(DMD):c.2440G>T (p.Glu814Ter)
|
rs1408435603
|
|
NM_004006.3(DMD):c.2442A>G (p.Glu814=)
|
rs1401119708
|
|
NM_004006.3(DMD):c.2445C>T (p.Phe815=)
|
rs2148632157
|
|
NM_004006.3(DMD):c.244C>A (p.Arg82=)
|
|
|
NM_004006.3(DMD):c.2451G>A (p.Gln817=)
|
rs1468177610
|
|
NM_004006.3(DMD):c.2454G>A (p.Leu818=)
|
|
|
NM_004006.3(DMD):c.245G>C (p.Arg82Pro)
|
rs1228664222
|
|
NM_004006.3(DMD):c.245G>T (p.Arg82Leu)
|
|
|
NM_004006.3(DMD):c.2460T>C (p.Ser820=)
|
|
|
NM_004006.3(DMD):c.2463_2466del (p.Glu821fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.2466A>G (p.Arg822=)
|
|
|
NM_004006.3(DMD):c.2467C>A (p.Leu823Ile)
|
rs1361636867
|
|
NM_004006.3(DMD):c.2467C>T (p.Leu823Phe)
|
|
|
NM_004006.3(DMD):c.246G>A (p.Arg82=)
|
rs2148984412
|
|
NM_004006.3(DMD):c.2472C>T (p.Asn824=)
|
|
|
NM_004006.3(DMD):c.2476C>G (p.Leu826Val)
|
|
|
NM_004006.3(DMD):c.247G>T (p.Val83Phe)
|
|
|
NM_004006.3(DMD):c.2484T>C (p.Tyr828=)
|
rs727503858
|
|
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)
|
rs753662330
|
|
NM_004006.3(DMD):c.2486A>C (p.Gln829Pro)
|
rs1557383647
|
|
NM_004006.3(DMD):c.2489A>T (p.Asn830Ile)
|
rs2148631760
|
|
NM_004006.3(DMD):c.2494A>G (p.Ile832Val)
|
|
|
NM_004006.3(DMD):c.2495T>A (p.Ile832Asn)
|
|
|
NM_004006.3(DMD):c.2499C>G (p.Ile833Met)
|
|
|
NM_004006.3(DMD):c.2499C>T (p.Ile833=)
|
rs752188036
|
|
NM_004006.3(DMD):c.24G>C (p.Glu8Asp)
|
rs1330369801
|
|
NM_004006.3(DMD):c.2503T>C (p.Phe835Leu)
|
|
|
NM_004006.3(DMD):c.2508T>C (p.Tyr836=)
|
rs886044674
|
|
NM_004006.3(DMD):c.2508_2509dup (p.Asn837fs)
|
rs2148631503
|
|
NM_004006.3(DMD):c.2508dup (p.Asn837Ter)
|
rs2042983140
|
|
NM_004006.3(DMD):c.2510A>G (p.Asn837Ser)
|
|
|
NM_004006.3(DMD):c.2511T>A (p.Asn837Lys)
|
|
|
NM_004006.3(DMD):c.2518C>A (p.Gln840Lys)
|
rs398123892
|
|
NM_004006.3(DMD):c.2518C>T (p.Gln840Ter)
|
rs398123892
|
|
NM_004006.3(DMD):c.251del (p.Leu84fs)
|
rs398123893
|
|
NM_004006.3(DMD):c.2521C>T (p.Gln841Ter)
|
rs2148631382
|
|
NM_004006.3(DMD):c.2530C>T (p.Gln844Ter)
|
rs768892830
|
|
NM_004006.3(DMD):c.2531A>G (p.Gln844Arg)
|
rs2148631249
|
|
NM_004006.3(DMD):c.2537C>G (p.Thr846Arg)
|
|
|
NM_004006.3(DMD):c.2539ACT[1] (p.Thr848del)
|
|
|
NM_004006.3(DMD):c.2539dup (p.Thr847fs)
|
|
|
NM_004006.3(DMD):c.2546del (p.Ala849fs)
|
rs2042979418
|
|
NM_004006.3(DMD):c.2553C>G (p.Asn851Lys)
|
|
|
NM_004006.3(DMD):c.2553C>T (p.Asn851=)
|
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
NM_004006.3(DMD):c.2555G>T (p.Trp852Leu)
|
|
|
NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)
|
rs1429329309
|
|
NM_004006.3(DMD):c.2558T>G (p.Leu853Trp)
|
rs2148630970
|
|
NM_004006.3(DMD):c.2563dup (p.Ile855fs)
|
|
|
NM_004006.3(DMD):c.2565C>A (p.Ile855=)
|
rs2148630935
|
|
NM_004006.3(DMD):c.2565C>T (p.Ile855=)
|
rs2148630935
|
|
NM_004006.3(DMD):c.2568A>G (p.Gln856=)
|
rs2148630906
|
|
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)
|
rs552275776
|
|
NM_004006.3(DMD):c.2571C>T (p.Pro857=)
|
rs2148630865
|
|
NM_004006.3(DMD):c.2573C>T (p.Thr858Ile)
|
|
|
NM_004006.3(DMD):c.2574C>G (p.Thr858=)
|
rs370399617
|
|
NM_004006.3(DMD):c.2574C>T (p.Thr858=)
|
rs370399617
|
|
NM_004006.3(DMD):c.2580A>T (p.Pro860=)
|
|
|
NM_004006.3(DMD):c.2584G>T (p.Glu862Ter)
|
rs2042975774
|
|
NM_004006.3(DMD):c.2585A>G (p.Glu862Gly)
|
rs1557383527
|
|
NM_004006.3(DMD):c.2586G>A (p.Glu862=)
|
rs2148630657
|
|
NM_004006.3(DMD):c.258C>A (p.Asn86Lys)
|
|
|
NM_004006.3(DMD):c.258C>T (p.Asn86=)
|
rs1368237586
|
|
NM_004006.3(DMD):c.2592A>G (p.Thr864=)
|
rs2148630610
|
|
NM_004006.3(DMD):c.2598T>C (p.Ile866=)
|
|
|
NM_004006.3(DMD):c.2600A>G (p.Lys867Arg)
|
|
|
NM_004006.3(DMD):c.2601_2602dup (p.Ser868fs)
|
rs794727322
|
|
NM_004006.3(DMD):c.2605C>T (p.Gln869Ter)
|
rs2148630465
|
|
NM_004006.3(DMD):c.2607G>T (p.Gln869His)
|
rs398123898
|
|
NM_004006.3(DMD):c.2609dup (p.Leu870fs)
|
|
|
NM_004006.3(DMD):c.260dup (p.Asn87fs)
|
rs2148984299
|
|
NM_004006.3(DMD):c.2611A>G (p.Lys871Glu)
|
|
|
NM_004006.3(DMD):c.2614A>T (p.Ile872Phe)
|
rs1557383485
|
|
NM_004006.3(DMD):c.2614dup (p.Ile872fs)
|
rs2148630350
|
|
NM_004006.3(DMD):c.2617T>G (p.Cys873Gly)
|
|
|
NM_004006.3(DMD):c.2617dup (p.Cys873fs)
|
rs2042972321
|
|
NM_004006.3(DMD):c.2619T>C (p.Cys873=)
|
rs775634913
|
|
NM_004006.3(DMD):c.2622+11C>G
|
|
|
NM_004006.3(DMD):c.2622+11C>T
|
|
|
NM_004006.3(DMD):c.2622+12T>G
|
|
|
NM_004006.3(DMD):c.2622+13T>A
|
|
|
NM_004006.3(DMD):c.2622+16C>T
|
|
|
NM_004006.3(DMD):c.2622+1G>A
|
rs398123901
|
|
NM_004006.3(DMD):c.2622+20C>T
|
|
|
NM_004006.3(DMD):c.2622+9C>A
|
rs375399258
|
|
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn)
|
rs2148630194
|
|
NM_004006.3(DMD):c.2623-10T>C
|
|
|
NM_004006.3(DMD):c.2623-13C>T
|
|
|
NM_004006.3(DMD):c.2623-14A>C
|
|
|
NM_004006.3(DMD):c.2623-16A>C
|
|
|
NM_004006.3(DMD):c.2623-16A>G
|
rs763945709
|
|
NM_004006.3(DMD):c.2623-17C>T
|
rs2148584931
|
|
NM_004006.3(DMD):c.2623-18C>T
|
|
|
NM_004006.3(DMD):c.2623-2A>G
|
rs2148584710
|
|
NM_004006.3(DMD):c.2623-3C>T
|
|
|
NM_004006.3(DMD):c.2625T>C (p.Asp875=)
|
|
|
NM_004006.3(DMD):c.2626G>A (p.Glu876Lys)
|
|
|
NM_004006.3(DMD):c.2627A>T (p.Glu876Val)
|
|
|
NM_004006.3(DMD):c.2629G>A (p.Val877Ile)
|
rs774459142
|
|
NM_004006.3(DMD):c.2636G>T (p.Arg879Leu)
|
|
|
NM_004006.3(DMD):c.2637G>T (p.Arg879=)
|
rs886044268
|
|
NM_004006.3(DMD):c.2638C>T (p.Leu880=)
|
rs886044269
|
|
NM_004006.3(DMD):c.2638del (p.Leu880fs)
|
rs1557380685
|
|
NM_004006.3(DMD):c.264+10A>G
|
|
|
NM_004006.3(DMD):c.264+10A>T
|
rs1489424257
|
|
NM_004006.3(DMD):c.264+12C>T
|
|
|
NM_004006.3(DMD):c.264+13C>G
|
|
|
NM_004006.3(DMD):c.264+17A>G
|
|
|
NM_004006.3(DMD):c.264+17A>T
|
|
|
NM_004006.3(DMD):c.264+18C>G
|
|
|
NM_004006.3(DMD):c.264+18C>T
|
|
|
NM_004006.3(DMD):c.264+1G>A
|
rs1569533147
|
|
NM_004006.3(DMD):c.264+20A>T
|
|
|
NM_004006.3(DMD):c.264+3A>T
|
rs748003531
|
|
NM_004006.3(DMD):c.264+4A>G
|
rs1159546987
|
|
NM_004006.3(DMD):c.264+5G>A
|
rs398123902
|
|
NM_004006.3(DMD):c.264+9T>C
|
|
|
NM_004006.3(DMD):c.265-15C>A
|
|
|
NM_004006.3(DMD):c.265-17A>G
|
|
|
NM_004006.3(DMD):c.265-29_265-15del
|
|
|
NM_004006.3(DMD):c.265-5A>C
|
|
|
NM_004006.3(DMD):c.265-6dup
|
|
|
NM_004006.3(DMD):c.265-7T>C
|
rs768511179
|
|
NM_004006.3(DMD):c.265-9_265-6del
|
rs780278315
|
|
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)
|
rs398123903
|
|
NM_004006.3(DMD):c.2654C>T (p.Pro885Leu)
|
rs2042278940
|
|
NM_004006.3(DMD):c.2665C>A (p.Arg889=)
|
rs1060502639
|
|
NM_004006.3(DMD):c.2665C>G (p.Arg889Gly)
|
|
|
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)
|
rs1060502639
|
|
NM_004006.3(DMD):c.2666G>T (p.Arg889Leu)
|
rs779579811
|
|
NM_004006.3(DMD):c.2667A>G (p.Arg889=)
|
rs759593799
|
|
NM_004006.3(DMD):c.2668T>C (p.Leu890=)
|
rs1346550111
|
|
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.2672A>G (p.Lys891Arg)
|
|
|
NM_004006.3(DMD):c.2677C>G (p.Gln893Glu)
|
|
|
NM_004006.3(DMD):c.2681G>C (p.Ser894Thr)
|
|
|
NM_004006.3(DMD):c.2681G>T (p.Ser894Ile)
|
|
|
NM_004006.3(DMD):c.2689C>T (p.Leu897=)
|
|
|
NM_004006.3(DMD):c.2694A>C (p.Lys898Asn)
|
|
|
NM_004006.3(DMD):c.2694A>G (p.Lys898=)
|
rs754244555
|
|
NM_004006.3(DMD):c.2695G>T (p.Glu899Ter)
|
rs2148583804
|
|
NM_004006.3(DMD):c.2699A>T (p.Lys900Ile)
|
rs1557380569
|
|
NM_004006.3(DMD):c.2703A>G (p.Gly901=)
|
|
|
NM_004006.3(DMD):c.2703A>T (p.Gly901=)
|
|
|
NM_004006.3(DMD):c.2704C>T (p.Gln902Ter)
|
rs1603634608
|
|
NM_004006.3(DMD):c.2707G>A (p.Gly903Arg)
|
|
|
NM_004006.3(DMD):c.2710C>A (p.Pro904Thr)
|
|
|
NM_004006.3(DMD):c.2711C>A (p.Pro904His)
|
|
|
NM_004006.3(DMD):c.2712C>A (p.Pro904=)
|
|
|
NM_004006.3(DMD):c.2713A>G (p.Met905Val)
|
|
|
NM_004006.3(DMD):c.2714T>C (p.Met905Thr)
|
rs1454170307
|
|
NM_004006.3(DMD):c.2714T>G (p.Met905Arg)
|
rs1454170307
|
|
NM_004006.3(DMD):c.2716T>A (p.Phe906Ile)
|
|
|
NM_004006.3(DMD):c.2717T>C (p.Phe906Ser)
|
|
|
NM_004006.3(DMD):c.2717T>G (p.Phe906Cys)
|
rs375557173
|
|
NM_004006.3(DMD):c.2718C>A (p.Phe906Leu)
|
|
|
NM_004006.3(DMD):c.2719C>T (p.Leu907=)
|
|
|
NM_004006.3(DMD):c.2720T>C (p.Leu907Pro)
|
rs1060502654
|
|
NM_004006.3(DMD):c.2720T>G (p.Leu907Arg)
|
|
|
NM_004006.3(DMD):c.2721G>T (p.Leu907=)
|
rs2148583396
|
|
NM_004006.3(DMD):c.2723A>T (p.Asp908Val)
|
|
|
NM_004006.3(DMD):c.2725G>A (p.Ala909Thr)
|
rs1060502616
|
|
NM_004006.3(DMD):c.2732T>C (p.Phe911Ser)
|
rs2042270248
|
|
NM_004006.3(DMD):c.2733T>C (p.Phe911=)
|
|
|
NM_004006.3(DMD):c.2733dup (p.Val912fs)
|
rs1557380496
|
|
NM_004006.3(DMD):c.2734G>A (p.Val912Met)
|
rs201549805
|
|
NM_004006.3(DMD):c.2734G>C (p.Val912Leu)
|
|
|
NM_004006.3(DMD):c.2738C>A (p.Ala913Asp)
|
|
|
NM_004006.3(DMD):c.2739C>T (p.Ala913=)
|
|
|
NM_004006.3(DMD):c.273A>G (p.Leu91=)
|
|
|
NM_004006.3(DMD):c.2744C>A (p.Thr915Lys)
|
|
|
NM_004006.3(DMD):c.2745A>G (p.Thr915=)
|
rs149922633
|
|
NM_004006.3(DMD):c.2749C>A (p.His917Asn)
|
|
|
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)
|
rs727503850
|
|
NM_004006.3(DMD):c.2756A>G (p.Lys919Arg)
|
|
|
NM_004006.3(DMD):c.2758C>T (p.Gln920Ter)
|
rs398123905
|
|
NM_004006.3(DMD):c.2760_2761del (p.Gln920fs)
|
rs2148582964
|
|
NM_004006.3(DMD):c.2761G>A (p.Val921Ile)
|
rs746919167
|
|
NM_004006.3(DMD):c.2761G>C (p.Val921Leu)
|
|
|
NM_004006.3(DMD):c.2762T>C (p.Val921Ala)
|
|
|
NM_004006.3(DMD):c.2762T>G (p.Val921Gly)
|
rs779873011
|
|
NM_004006.3(DMD):c.2763C>G (p.Val921=)
|
rs1388980111
|
|
NM_004006.3(DMD):c.2767T>C (p.Ser923Pro)
|
|
|
NM_004006.3(DMD):c.2768del (p.Ser923fs)
|
|
|
NM_004006.3(DMD):c.2769T>C (p.Ser923=)
|
rs2148582859
|
|
NM_004006.3(DMD):c.276_277delinsAG (p.Asn93Asp)
|
rs2148850616
|
|
NM_004006.3(DMD):c.2772T>C (p.Asp924=)
|
rs2148582843
|
|
NM_004006.3(DMD):c.2774_2775del (p.Val925fs)
|
rs2148582821
|
|
NM_004006.3(DMD):c.2775G>A (p.Val925=)
|
|
|
NM_004006.3(DMD):c.2776C>T (p.Gln926Ter)
|
rs1055371114
|
|
NM_004006.3(DMD):c.2778G>A (p.Gln926=)
|
rs2148582779
|
|
NM_004006.3(DMD):c.2779G>A (p.Ala927Thr)
|
|
|
NM_004006.3(DMD):c.2794C>T (p.Leu932=)
|
|
|
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)
|
rs756949497
|
|
NM_004006.3(DMD):c.279T>C (p.Asn93=)
|
|
|
NM_004006.3(DMD):c.2801C>A (p.Thr934Lys)
|
rs2042264322
|
|
NM_004006.3(DMD):c.2801C>T (p.Thr934Ile)
|
rs2042264322
|
|
NM_004006.3(DMD):c.2803+13C>G
|
|
|
NM_004006.3(DMD):c.2803+15dup
|
|
|
NM_004006.3(DMD):c.2803+17A>T
|
|
|
NM_004006.3(DMD):c.2803+19A>G
|
|
|
NM_004006.3(DMD):c.2803+5G>T
|
rs1603634603
|
|
NM_004006.3(DMD):c.2803+5_2803+8del
|
rs2148582421
|
|
NM_004006.3(DMD):c.2803+7A>T
|
|
|
NM_004006.3(DMD):c.2804-10T>G
|
|
|
NM_004006.3(DMD):c.2804-12C>A
|
|
|
NM_004006.3(DMD):c.2804-17T>C
|
|
|
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.2804-1del
|
rs1557374667
|
|
NM_004006.3(DMD):c.2804-2A>C
|
rs794727357
|
|
NM_004006.3(DMD):c.2804-2A>T
|
rs794727357
|
|
NM_004006.3(DMD):c.2804-4A>G
|
|
|
NM_004006.3(DMD):c.2804-6A>T
|
|
|
NM_004006.3(DMD):c.2804-7G>C
|
rs1346576933
|
|
NM_004006.3(DMD):c.2804-8T>C
|
rs2148486222
|
|
NM_004006.3(DMD):c.2804-8dup
|
|
|
NM_004006.3(DMD):c.2810A>C (p.Asp937Ala)
|
rs768386277
|
|
NM_004006.3(DMD):c.2811C>T (p.Asp937=)
|
rs2148486072
|
|
NM_004006.3(DMD):c.2812A>C (p.Thr938Pro)
|
|
|
NM_004006.3(DMD):c.2814T>A (p.Thr938=)
|
rs2148486027
|
|
NM_004006.3(DMD):c.2815T>C (p.Leu939=)
|
rs1603634302
|
|
NM_004006.3(DMD):c.2818C>T (p.Pro940Ser)
|
|
|
NM_004006.3(DMD):c.281T>C (p.Ile94Thr)
|
rs2078436389
|
|
NM_004006.3(DMD):c.2820A>G (p.Pro940=)
|
|
|
NM_004006.3(DMD):c.2822C>G (p.Pro941Arg)
|
rs373914964
|
|
NM_004006.3(DMD):c.2822C>T (p.Pro941Leu)
|
rs373914964
|
|
NM_004006.3(DMD):c.2826G>A (p.Met942Ile)
|
|
|
NM_004006.3(DMD):c.2829C>T (p.Arg943=)
|
|
|
NM_004006.3(DMD):c.2831A>G (p.Tyr944Cys)
|
rs2148485775
|
|
NM_004006.3(DMD):c.2833del (p.Gln945fs)
|
|
|
NM_004006.3(DMD):c.2833dup (p.Gln945fs)
|
rs2148485744
|
|
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg)
|
rs2040732218
|
|
NM_004006.3(DMD):c.2836G>A (p.Glu946Lys)
|
|
|
NM_004006.3(DMD):c.2836_2838del (p.Glu946del)
|
|
|
NM_004006.3(DMD):c.283G>T (p.Gly95Ter)
|
rs1557058415
|
|
NM_004006.3(DMD):c.2846G>A (p.Ser949Asn)
|
rs1057522383
|
|
NM_004006.3(DMD):c.2846G>C (p.Ser949Thr)
|
rs1057522383
|
|
NM_004006.3(DMD):c.2850C>T (p.Ala950=)
|
rs2148485549
|
|
NM_004006.3(DMD):c.2852T>G (p.Ile951Ser)
|
rs2148485536
|
|
NM_004006.3(DMD):c.2859A>G (p.Thr953=)
|
|
|
NM_004006.3(DMD):c.2863G>T (p.Val955Phe)
|
rs1060502657
|
|
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)
|
rs398123912
|
|
NM_004006.3(DMD):c.2866CAG[1] (p.Gln957del)
|
rs2040725090
|
|
NM_004006.3(DMD):c.2867A>G (p.Gln956Arg)
|
|
|
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)
|
rs1603634298
|
|
NM_004006.3(DMD):c.286del (p.Ser96fs)
|
rs2148850505
|
|
NM_004006.3(DMD):c.2870A>C (p.Gln957Pro)
|
rs2148485378
|
|
NM_004006.3(DMD):c.2872T>A (p.Ser958Thr)
|
|
|
NM_004006.3(DMD):c.2874A>G (p.Ser958=)
|
rs2148485342
|
|
NM_004006.3(DMD):c.2876A>G (p.Glu959Gly)
|
|
|
NM_004006.3(DMD):c.2876A>T (p.Glu959Val)
|
|
|
NM_004006.3(DMD):c.287G>A (p.Ser96Asn)
|
rs1569529162
|
|
NM_004006.3(DMD):c.2888C>G (p.Ser963Cys)
|
|
|
NM_004006.3(DMD):c.2889C>A (p.Ser963=)
|
|
|
NM_004006.3(DMD):c.2889C>T (p.Ser963=)
|
rs943720115
|
|
NM_004006.3(DMD):c.2893C>A (p.Pro965Thr)
|
rs1431281003
|
|
NM_004006.3(DMD):c.2895T>A (p.Pro965=)
|
|
|
NM_004006.3(DMD):c.2897A>C (p.Gln966Pro)
|
|
|
NM_004006.3(DMD):c.2898A>T (p.Gln966His)
|
|
|
NM_004006.3(DMD):c.2899C>T (p.Leu967Phe)
|
rs2040718654
|
|
NM_004006.3(DMD):c.289A>G (p.Thr97Ala)
|
rs1557058403
|
|
NM_004006.3(DMD):c.2902_2903insAA (p.Ser968fs)
|
rs2148485071
|
|
NM_004006.3(DMD):c.2907C>T (p.Val969=)
|
|
|
NM_004006.3(DMD):c.2909C>T (p.Thr970Ile)
|
|
|
NM_004006.3(DMD):c.2910C>G (p.Thr970=)
|
|
|
NM_004006.3(DMD):c.2911G>A (p.Asp971Asn)
|
rs1376043336
|
|
NM_004006.3(DMD):c.2913C>T (p.Asp971=)
|
|
|
NM_004006.3(DMD):c.2914del (p.Tyr972fs)
|
rs1569564281
|
|
NM_004006.3(DMD):c.2915A>C (p.Tyr972Ser)
|
|
|
NM_004006.3(DMD):c.2917G>T (p.Glu973Ter)
|
rs2148484887
|
|
NM_004006.3(DMD):c.2922C>T (p.Ile974=)
|
|
|
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)
|
rs767387334
|
|
NM_004006.3(DMD):c.2928G>A (p.Glu976=)
|
rs2148484778
|
|
NM_004006.3(DMD):c.2929C>A (p.Gln977Lys)
|
|
|
NM_004006.3(DMD):c.2935C>A (p.Leu979Ile)
|
|
|
NM_004006.3(DMD):c.2939G>T (p.Gly980Val)
|
rs1057515875
|
|
NM_004006.3(DMD):c.2940G>A (p.Gly980=)
|
|
|
NM_004006.3(DMD):c.2941G>A (p.Glu981Lys)
|
rs2148484587
|
|
NM_004006.3(DMD):c.2941del (p.Glu981fs)
|
|
|
NM_004006.3(DMD):c.2942A>G (p.Glu981Gly)
|
rs1557374492
|
|
NM_004006.3(DMD):c.2948A>C (p.Gln983Pro)
|
|
|
NM_004006.3(DMD):c.2949+10T>C
|
|
|
NM_004006.3(DMD):c.2949+14T>G
|
|
|
NM_004006.3(DMD):c.2949+15G>C
|
|
|
NM_004006.3(DMD):c.2949+17A>G
|
|
|
NM_004006.3(DMD):c.2949+18T>C
|
|
|
NM_004006.3(DMD):c.2949+18T>G
|
|
|
NM_004006.3(DMD):c.2949+1G>A
|
rs1557374482
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
NM_004006.3(DMD):c.2949+5G>A
|
rs1569564280
|
|
NM_004006.3(DMD):c.2949+7G>A
|
|
|
NM_004006.3(DMD):c.2949+8A>T
|
rs2148484431
|
|
NM_004006.3(DMD):c.2949+9A>G
|
rs2148484405
|
|
NM_004006.3(DMD):c.294_306del (p.Asp98fs)
|
rs1603441550
|
|
NM_004006.3(DMD):c.2950-11_2950-10del
|
|
|
NM_004006.3(DMD):c.2950-12del
|
rs766869811
|
|
NM_004006.3(DMD):c.2950-12dup
|
|
|
NM_004006.3(DMD):c.2950-17A>T
|
|
|
NM_004006.3(DMD):c.2950-19T>G
|
|
|
NM_004006.3(DMD):c.2950-1G>T
|
rs2148460867
|
|
NM_004006.3(DMD):c.2950-4T>G
|
rs1285970429
|
|
NM_004006.3(DMD):c.2950-6T>C
|
|
|
NM_004006.3(DMD):c.2950-7T>G
|
|
|
NM_004006.3(DMD):c.2950-8T>A
|
|
|
NM_004006.3(DMD):c.2950-9G>T
|
rs772822759
|
|
NM_004006.3(DMD):c.2950-9_2950-3del
|
rs1557372619
|
|
NM_004006.3(DMD):c.2957A>C (p.Gln986Pro)
|
|
|
NM_004006.3(DMD):c.2959del (p.Ser987fs)
|
|
|
NM_004006.3(DMD):c.2960G>A (p.Ser987Asn)
|
rs1184694731
|
|
NM_004006.3(DMD):c.2962T>C (p.Ser988Pro)
|
rs2040307294
|
|
NM_004006.3(DMD):c.2965C>T (p.Leu989=)
|
|
|
NM_004006.3(DMD):c.2967G>A (p.Leu989=)
|
rs760097427
|
|
NM_004006.3(DMD):c.2968C>A (p.Gln990Lys)
|
rs1233380601
|
|
NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)
|
rs1233380601
|
|
NM_004006.3(DMD):c.2971G>T (p.Glu991Ter)
|
rs72468667
|
|
NM_004006.3(DMD):c.2974C>A (p.Gln992Lys)
|
|
|
NM_004006.3(DMD):c.2974C>T (p.Gln992Ter)
|
rs2148460570
|
|
NM_004006.3(DMD):c.2976A>G (p.Gln992=)
|
rs2148460554
|
|
NM_004006.3(DMD):c.2979A>G (p.Gln993=)
|
|
|
NM_004006.3(DMD):c.2984G>T (p.Gly995Val)
|
rs2148460524
|
|
NM_004006.3(DMD):c.2994T>A (p.Tyr998Ter)
|
rs1472308773
|
|
NM_004006.3(DMD):c.2995C>T (p.Leu999Phe)
|
|
|
NM_004006.3(DMD):c.2997C>A (p.Leu999=)
|
|
|
NM_004006.3(DMD):c.2997C>G (p.Leu999=)
|
|
|
NM_004006.3(DMD):c.29G>C (p.Cys10Ser)
|
rs794726909
|
|
NM_004006.3(DMD):c.29_30del (p.Cys10fs)
|
rs2051898232
|
|
NM_004006.3(DMD):c.29del (p.Cys10fs)
|
rs1603419076
|
|
NM_004006.3(DMD):c.3001A>G (p.Thr1001Ala)
|
rs2040303930
|
|
NM_004006.3(DMD):c.3006T>C (p.Thr1002=)
|
|
|
NM_004006.3(DMD):c.3006T>G (p.Thr1002=)
|
|
|
NM_004006.3(DMD):c.3008_3009del (p.Val1003fs)
|
rs2040303197
|
|
NM_004006.3(DMD):c.3009G>A (p.Val1003=)
|
|
|
NM_004006.3(DMD):c.3009G>T (p.Val1003=)
|
rs2148460337
|
|
NM_004006.3(DMD):c.3010A>T (p.Lys1004Ter)
|
rs2148460313
|
|
NM_004006.3(DMD):c.3015G>T (p.Glu1005Asp)
|
|
|
NM_004006.3(DMD):c.3016A>T (p.Met1006Leu)
|
rs1557372536
|
|
NM_004006.3(DMD):c.3020C>A (p.Ser1007Ter)
|
rs144732570
|
|
NM_004006.3(DMD):c.3027A>G (p.Lys1009=)
|
|
|
NM_004006.3(DMD):c.3030G>C (p.Ala1010=)
|
rs72468666
|
|
NM_004006.3(DMD):c.3030G>T (p.Ala1010=)
|
|
|
NM_004006.3(DMD):c.3036T>C (p.Ser1012=)
|
|
|
NM_004006.3(DMD):c.303T>C (p.Asp101=)
|
rs2148850314
|
|
NM_004006.3(DMD):c.3042T>C (p.Ile1014=)
|
|
|
NM_004006.3(DMD):c.3042_3052del (p.Arg1016fs)
|
|
|
NM_004006.3(DMD):c.3044G>T (p.Ser1015Ile)
|
rs2148459910
|
|
NM_004006.3(DMD):c.3046C>A (p.Arg1016=)
|
rs199808421
|
|
NM_004006.3(DMD):c.3048G>A (p.Arg1016=)
|
rs2148459815
|
|
NM_004006.3(DMD):c.3048G>T (p.Arg1016=)
|
|
|
NM_004006.3(DMD):c.3053A>G (p.Tyr1018Cys)
|
|
|
NM_004006.3(DMD):c.3063A>G (p.Glu1021=)
|
rs2148459708
|
|
NM_004006.3(DMD):c.3066T>C (p.Phe1022=)
|
rs2040297276
|
|
NM_004006.3(DMD):c.3069A>C (p.Glu1023Asp)
|
rs2040297014
|
|
NM_004006.3(DMD):c.3069A>T (p.Glu1023Asp)
|
|
|
NM_004006.3(DMD):c.3071A>C (p.Glu1024Ala)
|
|
|
NM_004006.3(DMD):c.3072A>G (p.Glu1024=)
|
|
|
NM_004006.3(DMD):c.3074T>C (p.Ile1025Thr)
|
rs376163041
|
|
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)
|
rs370171367
|
|
NM_004006.3(DMD):c.3081A>G (p.Gly1027=)
|
|
|
NM_004006.3(DMD):c.3083G>A (p.Arg1028His)
|
|
|
NM_004006.3(DMD):c.3083G>C (p.Arg1028Pro)
|
rs746322769
|
|
NM_004006.3(DMD):c.3088A>C (p.Lys1030Gln)
|
|
|
NM_004006.3(DMD):c.3088A>T (p.Lys1030Ter)
|
rs2148459492
|
|
NM_004006.3(DMD):c.3092A>T (p.Lys1031Met)
|
|
|
NM_004006.3(DMD):c.3093G>A (p.Lys1031=)
|
rs1220406312
|
|
NM_004006.3(DMD):c.3095T>C (p.Leu1032Pro)
|
|
|
NM_004006.3(DMD):c.3096C>T (p.Leu1032=)
|
rs770148717
|
|
NM_004006.3(DMD):c.30T>A (p.Cys10Ter)
|
|
|
NM_004006.3(DMD):c.30T>C (p.Cys10=)
|
|
|
NM_004006.3(DMD):c.31+11A>T
|
|
|
NM_004006.3(DMD):c.31+16C>G
|
rs2148863935
|
|
NM_004006.3(DMD):c.31+19A>G
|
|
|
NM_004006.3(DMD):c.31+1G>A
|
rs398123923
|
|
NM_004006.3(DMD):c.31+1G>C
|
rs398123923
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.31+2dup
|
rs2051897744
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.31+3A>G
|
|
|
NM_004006.3(DMD):c.31+4A>C
|
|
|
NM_004006.3(DMD):c.31+4A>G
|
rs1557300092
|
|
NM_004006.3(DMD):c.31+8C>T
|
|
|
NM_004006.3(DMD):c.3103C>T (p.Gln1035Ter)
|
rs753006232
|
|
NM_004006.3(DMD):c.3105G>A (p.Gln1035=)
|
rs2040292349
|
|
NM_004006.3(DMD):c.3106C>G (p.Leu1036Val)
|
|
|
NM_004006.3(DMD):c.3108G>C (p.Leu1036=)
|
rs907460960
|
|
NM_004006.3(DMD):c.3108G>T (p.Leu1036=)
|
|
|
NM_004006.3(DMD):c.3109G>T (p.Val1037Phe)
|
rs2040291471
|
|
NM_004006.3(DMD):c.3119G>A (p.Cys1040Tyr)
|
rs1603634202
|
|
NM_004006.3(DMD):c.311A>T (p.His104Leu)
|
rs2148850239
|
|
NM_004006.3(DMD):c.3120T>C (p.Cys1040=)
|
|
|
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)
|
rs128626245
|
|
NM_004006.3(DMD):c.3126G>C (p.Lys1042Asn)
|
rs2040289618
|
|
NM_004006.3(DMD):c.3127C>T (p.Leu1043=)
|
|
|
NM_004006.3(DMD):c.3129A>G (p.Leu1043=)
|
rs1603634201
|
|
NM_004006.3(DMD):c.3130G>A (p.Glu1044Lys)
|
|
|
NM_004006.3(DMD):c.3135G>A (p.Glu1045=)
|
|
|
NM_004006.3(DMD):c.3136C>T (p.Gln1046Ter)
|
rs2148459016
|
|
NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro)
|
rs2040288189
|
|
NM_004006.3(DMD):c.3141G>T (p.Met1047Ile)
|
rs2148458957
|
|
NM_004006.3(DMD):c.3143A>G (p.Asn1048Ser)
|
rs367906493
|
|
NM_004006.3(DMD):c.3143_3149del (p.Asn1048fs)
|
rs2148458912
|
|
NM_004006.3(DMD):c.314A>T (p.Lys105Ile)
|
rs398123928
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3153A>T (p.Arg1051=)
|
|
|
NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)
|
|
|
NM_004006.3(DMD):c.3161A>G (p.Gln1054Arg)
|
|
|
NM_004006.3(DMD):c.3162+15T>A
|
|
|
NM_004006.3(DMD):c.3162+15T>C
|
|
|
NM_004006.3(DMD):c.3162+16A>G
|
|
|
NM_004006.3(DMD):c.3162+17C>T
|
|
|
NM_004006.3(DMD):c.3162+1G>A
|
rs1335666832
|
|
NM_004006.3(DMD):c.3162G>C (p.Gln1054His)
|
rs1414538851
|
|
NM_004006.3(DMD):c.3163-10C>G
|
rs2148428473
|
|
NM_004006.3(DMD):c.3163-10C>T
|
|
|
NM_004006.3(DMD):c.3163-11T>A
|
|
|
NM_004006.3(DMD):c.3163-13G>T
|
|
|
NM_004006.3(DMD):c.3163-14G>C
|
|
|
NM_004006.3(DMD):c.3163-15C>T
|
|
|
NM_004006.3(DMD):c.3163-19A>C
|
|
|
NM_004006.3(DMD):c.3163-19A>G
|
|
|
NM_004006.3(DMD):c.316C>G (p.Leu106Val)
|
|
|
NM_004006.3(DMD):c.3177C>A (p.Thr1059=)
|
rs755632126
|
|
NM_004006.3(DMD):c.3177C>G (p.Thr1059=)
|
rs755632126
|
|
NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)
|
|
|
NM_004006.3(DMD):c.3186del (p.Lys1062fs)
|
rs2148428193
|
|
NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)
|
rs128626246
|
|
NM_004006.3(DMD):c.3189G>A (p.Trp1063Ter)
|
rs2148428124
|
|
NM_004006.3(DMD):c.318G>C (p.Leu106=)
|
|
|
NM_004006.3(DMD):c.3190A>G (p.Met1064Val)
|
rs1281398911
|
|
NM_004006.3(DMD):c.3193_3209dup (p.Phe1070fs)
|
|
|
NM_004006.3(DMD):c.3195T>A (p.Ala1065=)
|
|
|
NM_004006.3(DMD):c.3196G>A (p.Glu1066Lys)
|
|
|
NM_004006.3(DMD):c.3198A>T (p.Glu1066Asp)
|
|
|
NM_004006.3(DMD):c.32-10T>G
|
|
|
NM_004006.3(DMD):c.32-15dup
|
|
|
NM_004006.3(DMD):c.32-17_32-10del
|
rs2147755779
|
|
NM_004006.3(DMD):c.32-7A>G
|
|
|
NM_004006.3(DMD):c.3211C>T (p.Leu1071=)
|
|
|
NM_004006.3(DMD):c.3213del (p.Lys1072fs)
|
rs2148427870
|
|
NM_004006.3(DMD):c.3214_3216del (p.Lys1072del)
|
|
|
NM_004006.3(DMD):c.321dup (p.Leu108fs)
|
rs2078432433
|
|
NM_004006.3(DMD):c.3220G>A (p.Glu1074Lys)
|
|
|
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)
|
rs1569563751
|
|
NM_004006.3(DMD):c.3225G>A (p.Trp1075Ter)
|
|
|
NM_004006.3(DMD):c.3226C>T (p.Pro1076Ser)
|
rs1422639014
|
|
NM_004006.3(DMD):c.3230C>T (p.Ala1077Val)
|
rs2148427766
|
|
NM_004006.3(DMD):c.3231C>T (p.Ala1077=)
|
rs769402316
|
|
NM_004006.3(DMD):c.323T>C (p.Leu108Pro)
|
rs1557058350
|
|
NM_004006.3(DMD):c.3243A>C (p.Ser1081=)
|
rs1745871535
|
|
NM_004006.3(DMD):c.3246A>G (p.Glu1082=)
|
rs768977119
|
|
NM_004006.3(DMD):c.3248T>A (p.Ile1083Asn)
|
rs2148427517
|
|
NM_004006.3(DMD):c.3251dup (p.Gln1087fs)
|
|
|
NM_004006.3(DMD):c.3252A>G (p.Leu1084=)
|
|
|
NM_004006.3(DMD):c.3254A>C (p.Lys1085Thr)
|
|
|
NM_004006.3(DMD):c.3254A>G (p.Lys1085Arg)
|
rs2148427430
|
|
NM_004006.3(DMD):c.3256_3257del (p.Lys1086fs)
|
|
|
NM_004006.3(DMD):c.3257A>G (p.Lys1086Arg)
|
|
|
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)
|
rs886039536
|
|
NM_004006.3(DMD):c.325G>C (p.Gly109Arg)
|
rs1060502658
|
|
NM_004006.3(DMD):c.3261G>A (p.Gln1087=)
|
rs2148427319
|
|
NM_004006.3(DMD):c.3266A>G (p.Lys1089Arg)
|
rs2148427282
|
|
NM_004006.3(DMD):c.3267A>G (p.Lys1089=)
|
|
|
NM_004006.3(DMD):c.3268C>T (p.Gln1090Ter)
|
rs1557369991
|
|
NM_004006.3(DMD):c.3270G>T (p.Gln1090His)
|
rs373475857
|
|
NM_004006.3(DMD):c.3271T>G (p.Cys1091Gly)
|
rs1569563736
|
|
NM_004006.3(DMD):c.3274A>T (p.Arg1092Ter)
|
rs2148427138
|
|
NM_004006.3(DMD):c.3276+12A>G
|
|
|
NM_004006.3(DMD):c.3276+15T>A
|
|
|
NM_004006.3(DMD):c.3276+17A>G
|
|
|
NM_004006.3(DMD):c.3276+1G>A
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+1G>C
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+20C>G
|
rs777689134
|
|
NM_004006.3(DMD):c.3276+20C>T
|
|
|
NM_004006.3(DMD):c.3276+6A>G
|
|
|
NM_004006.3(DMD):c.3276+7T>C
|
rs2148427067
|
|
NM_004006.3(DMD):c.3277-15G>C
|
|
|
NM_004006.3(DMD):c.3277-15G>T
|
|
|
NM_004006.3(DMD):c.3277-17T>A
|
|
|
NM_004006.3(DMD):c.3277-1G>C
|
rs2148419974
|
|
NM_004006.3(DMD):c.3277-2A>G
|
|
|
NM_004006.3(DMD):c.3277-2A>T
|
rs2098391032
|
|
NM_004006.3(DMD):c.3277-4T>C
|
rs1487831471
|
|
NM_004006.3(DMD):c.3277-6T>C
|
|
|
NM_004006.3(DMD):c.3277-9T>C
|
|
|
NM_004006.3(DMD):c.3277C>A (p.Leu1093Ile)
|
|
|
NM_004006.3(DMD):c.3281del (p.Leu1093_Leu1094insTer)
|
rs2148419938
|
|
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)
|
rs398123935
|
|
NM_004006.3(DMD):c.3299C>G (p.Thr1100Arg)
|
rs2148419733
|
|
NM_004006.3(DMD):c.3304C>T (p.Gln1102Ter)
|
rs2148419679
|
|
NM_004006.3(DMD):c.3306G>T (p.Gln1102His)
|
rs2148419656
|
|
NM_004006.3(DMD):c.3307C>T (p.Pro1103Ser)
|
rs2148419633
|
|
NM_004006.3(DMD):c.3309C>T (p.Pro1103=)
|
rs2148419616
|
|
NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs)
|
rs1557369493
|
|
NM_004006.3(DMD):c.330G>C (p.Leu110Phe)
|
rs2148850115
|
|
NM_004006.3(DMD):c.3311G>A (p.Ser1104Asn)
|
rs1009754942
|
|
NM_004006.3(DMD):c.3315A>G (p.Leu1105=)
|
rs2098390931
|
|
NM_004006.3(DMD):c.3317A>T (p.Asn1106Ile)
|
rs1346521535
|
|
NM_004006.3(DMD):c.3318C>G (p.Asn1106Lys)
|
|
|
NM_004006.3(DMD):c.3318C>T (p.Asn1106=)
|
rs2148419432
|
|
NM_004006.3(DMD):c.331A>C (p.Ile111Leu)
|
rs2078431806
|
|
NM_004006.3(DMD):c.3320G>T (p.Ser1107Ile)
|
|
|
NM_004006.3(DMD):c.3324del (p.Asn1109fs)
|
|
|
NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser)
|
rs200596739
|
|
NM_004006.3(DMD):c.3326_3338del (p.Asn1109fs)
|
|
|
NM_004006.3(DMD):c.3331G>A (p.Gly1111Ser)
|
rs2098390878
|
|
NM_004006.3(DMD):c.3333T>C (p.Gly1111=)
|
rs2148419259
|
|
NM_004006.3(DMD):c.3334G>A (p.Gly1112Arg)
|
rs777598938
|
|
NM_004006.3(DMD):c.3339G>A (p.Gln1113=)
|
|
|
NM_004006.3(DMD):c.333T>A (p.Ile111=)
|
rs138909301
|
|
NM_004006.3(DMD):c.333T>C (p.Ile111=)
|
rs138909301
|
|
NM_004006.3(DMD):c.3343A>C (p.Ile1115Leu)
|
rs2098390848
|
|
NM_004006.3(DMD):c.3347A>T (p.Lys1116Met)
|
|
|
NM_004006.3(DMD):c.3347del (p.Lys1116fs)
|
rs2098390819
|
|
NM_004006.3(DMD):c.334dup (p.Trp112fs)
|
|
|
NM_004006.3(DMD):c.3351T>C (p.Asn1117=)
|
rs2148419029
|
|
NM_004006.3(DMD):c.3356C>G (p.Ala1119Gly)
|
|
|
NM_004006.3(DMD):c.3356C>T (p.Ala1119Val)
|
|
|
NM_004006.3(DMD):c.3357A>G (p.Ala1119=)
|
|
|
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)
|
rs1569563678
|
|
NM_004006.3(DMD):c.3362C>G (p.Pro1121Arg)
|
rs1557369441
|
|
NM_004006.3(DMD):c.3362C>T (p.Pro1121Leu)
|
rs1557369441
|
|
NM_004006.3(DMD):c.3365A>C (p.Glu1122Ala)
|
|
|
NM_004006.3(DMD):c.3365_3366del (p.Glu1122fs)
|
rs1057518284
|
|
NM_004006.3(DMD):c.3372T>A (p.Ala1124=)
|
rs2148418794
|
|
NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)
|
rs374744331
|
|
NM_004006.3(DMD):c.3374C>G (p.Ser1125Trp)
|
|
|
NM_004006.3(DMD):c.3374C>T (p.Ser1125Leu)
|
rs374744331
|
|
NM_004006.3(DMD):c.3375G>C (p.Ser1125=)
|
rs191164314
|
|
NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs)
|
rs1557369413
|
|
NM_004006.3(DMD):c.3393C>G (p.Leu1131=)
|
|
|
NM_004006.3(DMD):c.339T>C (p.Asn113=)
|
|
|
NM_004006.3(DMD):c.3414_3432+3del
|
rs2148418008
|
|
NM_004006.3(DMD):c.3417T>C (p.Asp1139=)
|
rs1557369377
|
|
NM_004006.3(DMD):c.3420C>T (p.His1140=)
|
rs1431223068
|
|
NM_004006.3(DMD):c.3422T>G (p.Met1141Arg)
|
rs886042873
|
|
NM_004006.3(DMD):c.3424T>C (p.Cys1142Arg)
|
rs772957337
|
|
NM_004006.3(DMD):c.3424T>G (p.Cys1142Gly)
|
|
|
NM_004006.3(DMD):c.3426C>A (p.Cys1142Ter)
|
rs2148418171
|
|
NM_004006.3(DMD):c.3426C>T (p.Cys1142=)
|
rs2148418171
|
|
NM_004006.3(DMD):c.3428A>G (p.Gln1143Arg)
|
|
|
NM_004006.3(DMD):c.3429A>G (p.Gln1143=)
|
rs2148418096
|
|
NM_004006.3(DMD):c.3430C>T (p.Gln1144Ter)
|
rs2148418069
|
|
NM_004006.3(DMD):c.3432+13T>G
|
|
|
NM_004006.3(DMD):c.3432+14C>G
|
|
|
NM_004006.3(DMD):c.3432+16T>C
|
|
|
NM_004006.3(DMD):c.3432+16T>G
|
|
|
NM_004006.3(DMD):c.3432+18C>T
|
|
|
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.3432+5A>G
|
|
|
NM_004006.3(DMD):c.3432+8C>G
|
rs781003275
|
|
NM_004006.3(DMD):c.3433-11T>C
|
|
|
NM_004006.3(DMD):c.3433-12G>C
|
|
|
NM_004006.3(DMD):c.3433-16G>C
|
|
|
NM_004006.3(DMD):c.3433-19T>C
|
|
|
NM_004006.3(DMD):c.3433-1G>C
|
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
NM_004006.3(DMD):c.3433-7G>A
|
rs2098349613
|
|
NM_004006.3(DMD):c.3433-8del
|
rs2098349630
|
|
NM_004006.3(DMD):c.3433-9T>C
|
rs2148350001
|
|
NM_004006.3(DMD):c.3433G>A (p.Val1145Ile)
|
rs767442827
|
|
NM_004006.3(DMD):c.3438T>C (p.Tyr1146=)
|
|
|
NM_004006.3(DMD):c.3438del (p.Val1145_Tyr1146insTer)
|
rs2148349819
|
|
NM_004006.3(DMD):c.3441C>T (p.Ala1147=)
|
|
|
NM_004006.3(DMD):c.3447G>A (p.Lys1149=)
|
|
|
NM_004006.3(DMD):c.3449A>G (p.Glu1150Gly)
|
|
|
NM_004006.3(DMD):c.3452C>A (p.Ala1151Asp)
|
|
|
NM_004006.3(DMD):c.3456G>A (p.Leu1152=)
|
|
|
NM_004006.3(DMD):c.345C>T (p.Ile115=)
|
rs2148850018
|
|
NM_004006.3(DMD):c.3464G>T (p.Gly1155Val)
|
|
|
NM_004006.3(DMD):c.3475A>C (p.Thr1159Pro)
|
|
|
NM_004006.3(DMD):c.3477T>A (p.Thr1159=)
|
|
|
NM_004006.3(DMD):c.3477T>C (p.Thr1159=)
|
|
|
NM_004006.3(DMD):c.3483C>T (p.Ser1161=)
|
rs2148349398
|
|
NM_004006.3(DMD):c.3484C>T (p.Leu1162Phe)
|
rs2098349210
|
|
NM_004006.3(DMD):c.3486C>T (p.Leu1162=)
|
|
|
NM_004006.3(DMD):c.3489G>C (p.Gln1163His)
|
|
|
NM_004006.3(DMD):c.3498A>T (p.Leu1166=)
|
|
|
NM_004006.3(DMD):c.34_38del (p.Glu12fs)
|
rs1602766725
|
|
NM_004006.3(DMD):c.3510C>G (p.His1170Gln)
|
|
|
NM_004006.3(DMD):c.3511G>A (p.Glu1171Lys)
|
|
|
NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)
|
rs1263708289
|
|
NM_004006.3(DMD):c.3513A>G (p.Glu1171=)
|
rs566704655
|
|
NM_004006.3(DMD):c.3515_3519dup (p.Thr1174delinsGlyTer)
|
rs2148348931
|
|
NM_004006.3(DMD):c.3516G>A (p.Trp1172Ter)
|
rs865974846
|
|
NM_004006.3(DMD):c.3519G>T (p.Met1173Ile)
|
rs2148348911
|
|
NM_004006.3(DMD):c.3522A>G (p.Thr1174=)
|
|
|
NM_004006.3(DMD):c.3523C>T (p.Gln1175Ter)
|
|
|
NM_004006.3(DMD):c.352T>C (p.Trp118Arg)
|
rs886044589
|
|
NM_004006.3(DMD):c.3534A>G (p.Glu1178=)
|
|
|
NM_004006.3(DMD):c.3536A>G (p.Glu1179Gly)
|
|
|
NM_004006.3(DMD):c.3537G>A (p.Glu1179=)
|
rs1603633863
|
|
NM_004006.3(DMD):c.3544G>T (p.Glu1182Ter)
|
rs2148348645
|
|
NM_004006.3(DMD):c.3546G>A (p.Glu1182=)
|
rs1603633862
|
|
NM_004006.3(DMD):c.3547A>G (p.Arg1183Gly)
|
|
|
NM_004006.3(DMD):c.354G>A (p.Trp118Ter)
|
rs2148849959
|
|
NM_004006.3(DMD):c.354G>C (p.Trp118Cys)
|
rs2148849959
|
|
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)
|
rs868836192
|
|
NM_004006.3(DMD):c.3557A>T (p.Glu1186Val)
|
|
|
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)
|
rs863224995
|
|
NM_004006.3(DMD):c.3560A>G (p.Tyr1187Cys)
|
|
|
NM_004006.3(DMD):c.3562A>G (p.Lys1188Glu)
|
rs2148348451
|
|
NM_004006.3(DMD):c.3565del (p.Thr1189fs)
|
rs2148348431
|
|
NM_004006.3(DMD):c.3567T>C (p.Thr1189=)
|
rs370685748
|
|
NM_004006.3(DMD):c.356del (p.Gln119fs)
|
rs1557058308
|
|
NM_004006.3(DMD):c.357+10C>T
|
|
|
NM_004006.3(DMD):c.357+13A>G
|
|
|
NM_004006.3(DMD):c.357+17A>T
|
|
|
NM_004006.3(DMD):c.357+1_357+2dup
|
|
|
NM_004006.3(DMD):c.357+20G>C
|
|
|
NM_004006.3(DMD):c.357+7A>G
|
rs886043456
|
|
NM_004006.3(DMD):c.3570A>C (p.Pro1190=)
|
|
|
NM_004006.3(DMD):c.358-13T>C
|
|
|
NM_004006.3(DMD):c.358-1G>A
|
rs886044582
|
|
NM_004006.3(DMD):c.358-2A>G
|
rs863224996
|
|
NM_004006.3(DMD):c.358-4G>A
|
|
|
NM_004006.3(DMD):c.358-551_369delinsTTCTTTTCAGTTCAGCCAATAAATATAGCTTGCGTTAAATGATGGTATGAAATGATGGT
|
rs2148807947
|
|
NM_004006.3(DMD):c.358-8A>C
|
|
|
NM_004006.3(DMD):c.358-9C>T
|
|
|
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)
|
rs398123942
|
|
NM_004006.3(DMD):c.3584A>C (p.Lys1195Thr)
|
rs2148348244
|
|
NM_004006.3(DMD):c.3585A>G (p.Lys1195=)
|
|
|
NM_004006.3(DMD):c.3588A>G (p.Ala1196=)
|
|
|
NM_004006.3(DMD):c.3592G>A (p.Glu1198Lys)
|
|
|
NM_004006.3(DMD):c.3597_3601del (p.Met1200fs)
|
|
|
NM_004006.3(DMD):c.3600G>A (p.Met1200Ile)
|
|
|
NM_004006.3(DMD):c.3603+10_3603+11insAG
|
|
|
NM_004006.3(DMD):c.3603+10_3603+11insG
|
|
|
NM_004006.3(DMD):c.3603+12_3603+13insG
|
|
|
NM_004006.3(DMD):c.3603+12_3603+13insT
|
|
|
NM_004006.3(DMD):c.3603+13A>T
|
|
|
NM_004006.3(DMD):c.3603+14A>G
|
|
|
NM_004006.3(DMD):c.3603+15A>G
|
|
|
NM_004006.3(DMD):c.3603+15A>T
|
|
|
NM_004006.3(DMD):c.3603+15del
|
rs5902031
|
|
NM_004006.3(DMD):c.3603+16dup
|
|
|
NM_004006.3(DMD):c.3603+17A>G
|
|
|
NM_004006.3(DMD):c.3603+19A>C
|
|
|
NM_004006.3(DMD):c.3603+1G>A
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+2053G>C
|
rs2148332252
|
|
NM_004006.3(DMD):c.3603+20A>T
|
|
|
NM_004006.3(DMD):c.3603+2T>C
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2_3603+3insC
|
rs1603633860
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.3603+3A>T
|
rs1060502615
|
|
NM_004006.3(DMD):c.3603+3_3603+4dup
|
rs5902031
|
|
NM_004006.3(DMD):c.3603+3dup
|
rs5902031
|
|
NM_004006.3(DMD):c.3603+5_3603+6insG
|
rs2098348471
|
|
NM_004006.3(DMD):c.3603+7A>G
|
rs886044663
|
|
NM_004006.3(DMD):c.3603+8_3603+9insC
|
rs2148347843
|
|
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)
|
rs1265370991
|
|
NM_004006.3(DMD):c.3603G>T (p.Lys1201Asn)
|
rs1265370991
|
|
NM_004006.3(DMD):c.3604-10T>C
|
rs1603633688
|
|
NM_004006.3(DMD):c.3604-13C>A
|
|
|
NM_004006.3(DMD):c.3604-13C>G
|
rs903393566
|
|
NM_004006.3(DMD):c.3604-16_3604-15del
|
|
|
NM_004006.3(DMD):c.3604-17C>T
|
|
|
NM_004006.3(DMD):c.3604-1G>C
|
rs1569562952
|
|
NM_004006.3(DMD):c.3607G>A (p.Ala1203Thr)
|
rs1569562950
|
|
NM_004006.3(DMD):c.3607G>T (p.Ala1203Ser)
|
|
|
NM_004006.3(DMD):c.360C>T (p.Val120=)
|
|
|
NM_004006.3(DMD):c.3610A>G (p.Lys1204Glu)
|
|
|
NM_004006.3(DMD):c.3612A>T (p.Lys1204Asn)
|
|
|
NM_004006.3(DMD):c.3630del (p.Glu1211fs)
|
rs2098315232
|
|
NM_004006.3(DMD):c.3637A>G (p.Lys1213Glu)
|
rs886043133
|
|
NM_004006.3(DMD):c.3637A>T (p.Lys1213Ter)
|
|
|
NM_004006.3(DMD):c.3642G>C (p.Val1214=)
|
rs2148288770
|
|
NM_004006.3(DMD):c.3643A>G (p.Lys1215Glu)
|
|
|
NM_004006.3(DMD):c.3644A>G (p.Lys1215Arg)
|
|
|
NM_004006.3(DMD):c.3645dup (p.Leu1216fs)
|
rs2148288724
|
|
NM_004006.3(DMD):c.3646C>T (p.Leu1216Phe)
|
|
|
NM_004006.3(DMD):c.3647T>C (p.Leu1216Pro)
|
rs1569562944
|
|
NM_004006.3(DMD):c.3654T>G (p.Thr1218=)
|
|
|
NM_004006.3(DMD):c.3656A>C (p.Glu1219Ala)
|
|
|
NM_004006.3(DMD):c.3656_3657del (p.Glu1219fs)
|
|
|
NM_004006.3(DMD):c.365A>C (p.Asn122Thr)
|
rs1603437369
|
|
NM_004006.3(DMD):c.3668G>C (p.Ser1223Thr)
|
|
|
NM_004006.3(DMD):c.3669T>C (p.Ser1223=)
|
rs2148288459
|
|
NM_004006.3(DMD):c.3675A>T (p.Ile1225=)
|
|
|
NM_004006.3(DMD):c.3678T>C (p.Ala1226=)
|
|
|
NM_004006.3(DMD):c.3678T>G (p.Ala1226=)
|
rs767458058
|
|
NM_004006.3(DMD):c.3679C>G (p.Gln1227Glu)
|
rs1569562941
|
|
NM_004006.3(DMD):c.3679C>T (p.Gln1227Ter)
|
rs1569562941
|
|
NM_004006.3(DMD):c.3690dup (p.Val1231fs)
|
rs2148288214
|
|
NM_004006.3(DMD):c.3693A>G (p.Val1231=)
|
|
|
NM_004006.3(DMD):c.3695C>T (p.Ala1232Val)
|
rs2148288127
|
|
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3696A>G (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter)
|
rs1339088514
|
|
NM_004006.3(DMD):c.3699dup (p.Glu1234fs)
|
|
|
NM_004006.3(DMD):c.3702G>A (p.Glu1234=)
|
|
|
NM_004006.3(DMD):c.3704C>T (p.Ala1235Val)
|
|
|
NM_004006.3(DMD):c.370A>G (p.Met124Val)
|
|
|
NM_004006.3(DMD):c.3711A>G (p.Lys1237=)
|
|
|
NM_004006.3(DMD):c.3713del (p.Lys1238fs)
|
rs1557362198
|
|
NM_004006.3(DMD):c.3715_3733del (p.Glu1239fs)
|
|
|
NM_004006.3(DMD):c.3718C>A (p.Leu1240Ile)
|
rs1557362186
|
|
NM_004006.3(DMD):c.3720T>G (p.Leu1240=)
|
|
|
NM_004006.3(DMD):c.3727C>A (p.Leu1243Ile)
|
|
|
NM_004006.3(DMD):c.3727_3728del (p.Leu1243fs)
|
rs2148287711
|
|
NM_004006.3(DMD):c.3728T>A (p.Leu1243Gln)
|
|
|
NM_004006.3(DMD):c.372dup (p.Lys125fs)
|
|
|
NM_004006.3(DMD):c.3735C>T (p.Thr1245=)
|
|
|
NM_004006.3(DMD):c.3741C>A (p.Tyr1247Ter)
|
|
|
NM_004006.3(DMD):c.3741C>T (p.Tyr1247=)
|
rs2148287624
|
|
NM_004006.3(DMD):c.3742C>T (p.Gln1248Ter)
|
rs1569562936
|
|
NM_004006.3(DMD):c.3745T>C (p.Trp1249Arg)
|
rs2148287590
|
|
NM_004006.3(DMD):c.3747G>T (p.Trp1249Cys)
|
|
|
NM_004006.3(DMD):c.374A>C (p.Lys125Thr)
|
rs777958392
|
|
NM_004006.3(DMD):c.3752G>C (p.Cys1251Ser)
|
rs2148287508
|
|
NM_004006.3(DMD):c.3759G>A (p.Arg1253=)
|
|
|
NM_004006.3(DMD):c.3765T>C (p.Asn1255=)
|
|
|
NM_004006.3(DMD):c.376A>T (p.Asn126Tyr)
|
|
|
NM_004006.3(DMD):c.3774C>T (p.Cys1258=)
|
rs1569562933
|
|
NM_004006.3(DMD):c.3778A>G (p.Thr1260Ala)
|
rs886043957
|
|
NM_004006.3(DMD):c.3779C>A (p.Thr1260Asn)
|
|
|
NM_004006.3(DMD):c.377del (p.Asn126fs)
|
rs1569528138
|
|
NM_004006.3(DMD):c.377dup (p.Asn126fs)
|
rs1569528138
|
|
NM_004006.3(DMD):c.3782T>C (p.Leu1261Ser)
|
|
|
NM_004006.3(DMD):c.3786+14C>G
|
|
|
NM_004006.3(DMD):c.3786+15T>C
|
|
|
NM_004006.3(DMD):c.3786+18G>T
|
|
|
NM_004006.3(DMD):c.3786+20C>T
|
|
|
NM_004006.3(DMD):c.3786+2T>A
|
rs2148287085
|
|
NM_004006.3(DMD):c.3786+2_3786+3dup
|
rs2098314571
|
|
NM_004006.3(DMD):c.3787-13A>G
|
|
|
NM_004006.3(DMD):c.3787-14T>C
|
|
|
NM_004006.3(DMD):c.3787-15A>G
|
|
|
NM_004006.3(DMD):c.3787-16T>C
|
|
|
NM_004006.3(DMD):c.3787-19A>G
|
|
|
NM_004006.3(DMD):c.3787-5C>G
|
rs2148223054
|
|
NM_004006.3(DMD):c.3787-6_3787-3del
|
rs2148223023
|
|
NM_004006.3(DMD):c.3787-7T>C
|
rs2148223081
|
|
NM_004006.3(DMD):c.3787-8T>C
|
|
|
NM_004006.3(DMD):c.3787-9C>T
|
rs2148223106
|
|
NM_004006.3(DMD):c.3792T>C (p.Val1264=)
|
rs2148222947
|
|
NM_004006.3(DMD):c.3795G>T (p.Trp1265Cys)
|
|
|
NM_004006.3(DMD):c.379A>C (p.Ile127Leu)
|
rs748643562
|
|
NM_004006.3(DMD):c.379A>G (p.Ile127Val)
|
|
|
NM_004006.3(DMD):c.3800G>T (p.Cys1267Phe)
|
rs2098280665
|
|
NM_004006.3(DMD):c.3806A>C (p.His1269Pro)
|
rs775892814
|
|
NM_004006.3(DMD):c.3806A>T (p.His1269Leu)
|
|
|
NM_004006.3(DMD):c.3809A>T (p.Glu1270Val)
|
rs2148222681
|
|
NM_004006.3(DMD):c.3810G>A (p.Glu1270=)
|
|
|
NM_004006.3(DMD):c.3812T>C (p.Leu1271Ser)
|
rs2148222634
|
|
NM_004006.3(DMD):c.3816G>A (p.Leu1272=)
|
rs760733415
|
|
NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)
|
rs760733415
|
|
NM_004006.3(DMD):c.3817T>C (p.Ser1273Pro)
|
rs2098280582
|
|
NM_004006.3(DMD):c.3817del (p.Ser1273fs)
|
rs1557359217
|
|
NM_004006.3(DMD):c.3819A>G (p.Ser1273=)
|
rs2098280574
|
|
NM_004006.3(DMD):c.3825G>A (p.Leu1275=)
|
rs1379237787
|
|
NM_004006.3(DMD):c.3825G>T (p.Leu1275Phe)
|
|
|
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)
|
rs794727463
|
|
NM_004006.3(DMD):c.3844C>T (p.Leu1282=)
|
rs1603633540
|
|
NM_004006.3(DMD):c.3850G>A (p.Glu1284Lys)
|
rs1557359192
|
|
NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter)
|
rs1557359192
|
|
NM_004006.3(DMD):c.3855A>T (p.Val1285=)
|
|
|
NM_004006.3(DMD):c.3857A>T (p.Glu1286Val)
|
|
|
NM_004006.3(DMD):c.3858A>C (p.Glu1286Asp)
|
|
|
NM_004006.3(DMD):c.3868A>G (p.Lys1290Glu)
|
rs2148221941
|
|
NM_004006.3(DMD):c.3873C>A (p.Thr1291=)
|
rs2148221895
|
|
NM_004006.3(DMD):c.3875C>T (p.Thr1292Ile)
|
rs1603633538
|
|
NM_004006.3(DMD):c.3876T>G (p.Thr1292=)
|
rs1211843034
|
|
NM_004006.3(DMD):c.3879A>G (p.Glu1293=)
|
|
|
NM_004006.3(DMD):c.387dup (p.Gly130fs)
|
rs2148807654
|
|
NM_004006.3(DMD):c.3887C>T (p.Pro1296Leu)
|
|
|
NM_004006.3(DMD):c.388G>T (p.Gly130Ter)
|
rs2148807631
|
|
NM_004006.3(DMD):c.3891C>A (p.Gly1297=)
|
rs758317261
|
|
NM_004006.3(DMD):c.3893G>T (p.Gly1298Val)
|
rs1603633536
|
|
NM_004006.3(DMD):c.3900G>A (p.Glu1300=)
|
rs2148221514
|
|
NM_004006.3(DMD):c.3903A>C (p.Glu1301Asp)
|
rs2148221497
|
|
NM_004006.3(DMD):c.3905T>C (p.Ile1302Thr)
|
|
|
NM_004006.3(DMD):c.3908C>T (p.Ser1303Phe)
|
|
|
NM_004006.3(DMD):c.3910G>C (p.Glu1304Gln)
|
|
|
NM_004006.3(DMD):c.3912G>A (p.Glu1304=)
|
rs764748376
|
|
NM_004006.3(DMD):c.3913G>C (p.Val1305Leu)
|
|
|
NM_004006.3(DMD):c.3914T>C (p.Val1305Ala)
|
|
|
NM_004006.3(DMD):c.3916C>G (p.Leu1306Val)
|
|
|
NM_004006.3(DMD):c.3916C>T (p.Leu1306=)
|
rs1251778900
|
|
NM_004006.3(DMD):c.3917dup (p.Asp1307fs)
|
|
|
NM_004006.3(DMD):c.391T>C (p.Leu131=)
|
rs2148807603
|
|
NM_004006.3(DMD):c.3921+14T>C
|
|
|
NM_004006.3(DMD):c.3921+18C>G
|
rs760035056
|
|
NM_004006.3(DMD):c.3921+1_3921+2dup
|
rs2098280263
|
|
NM_004006.3(DMD):c.3921+2T>C
|
|
|
NM_004006.3(DMD):c.3921+5G>C
|
rs2098280253
|
|
NM_004006.3(DMD):c.3921+8G>T
|
|
|
NM_004006.3(DMD):c.3922-10T>C
|
|
|
NM_004006.3(DMD):c.3922-14C>G
|
|
|
NM_004006.3(DMD):c.3922-14C>T
|
|
|
NM_004006.3(DMD):c.3922-1G>A
|
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)
|
rs1569562466
|
|
NM_004006.3(DMD):c.3924A>G (p.Ser1308=)
|
|
|
NM_004006.3(DMD):c.3924A>T (p.Ser1308=)
|
rs1557357591
|
|
NM_004006.3(DMD):c.3925C>G (p.Leu1309Val)
|
rs1060502642
|
|
NM_004006.3(DMD):c.3925C>T (p.Leu1309Phe)
|
rs1060502642
|
|
NM_004006.3(DMD):c.3927T>G (p.Leu1309=)
|
|
|
NM_004006.3(DMD):c.3930A>G (p.Glu1310=)
|
rs2148194694
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.3942A>G (p.Arg1314=)
|
rs2098269367
|
|
NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu)
|
rs2098269308
|
|
NM_004006.3(DMD):c.3957C>A (p.Asn1319Lys)
|
|
|
NM_004006.3(DMD):c.3957C>T (p.Asn1319=)
|
|
|
NM_004006.3(DMD):c.3967A>T (p.Ile1323Phe)
|
rs770016783
|
|
NM_004006.3(DMD):c.3973A>C (p.Ile1325Leu)
|
|
|
NM_004006.3(DMD):c.3975A>G (p.Ile1325Met)
|
|
|
NM_004006.3(DMD):c.397C>T (p.Gln133Ter)
|
|
|
NM_004006.3(DMD):c.3983A>G (p.Gln1328Arg)
|
|
|
NM_004006.3(DMD):c.3986C>A (p.Thr1329Asn)
|
rs770827878
|
|
NM_004006.3(DMD):c.3987C>A (p.Thr1329=)
|
|
|
NM_004006.3(DMD):c.3988C>T (p.Leu1330=)
|
rs1557357523
|
|
NM_004006.3(DMD):c.3995A>G (p.Asp1332Gly)
|
|
|
NM_004006.3(DMD):c.3996T>C (p.Asp1332=)
|
|
|
NM_004006.3(DMD):c.3998G>A (p.Gly1333Asp)
|
rs2098269163
|
|
NM_004006.3(DMD):c.3999C>A (p.Gly1333=)
|
rs140759792
|
|
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)
|
rs146880270
|
|
NM_004006.3(DMD):c.400del (p.Thr134fs)
|
rs2148807456
|
|
NM_004006.3(DMD):c.4019T>C (p.Ile1340Thr)
|
|
|
NM_004006.3(DMD):c.4020C>G (p.Ile1340Met)
|
|
|
NM_004006.3(DMD):c.4022A>G (p.Asn1341Ser)
|
rs2098269107
|
|
NM_004006.3(DMD):c.4026G>A (p.Glu1342=)
|
|
|
NM_004006.3(DMD):c.402_408dup (p.Glu137delinsGlnGlnTer)
|
rs2077781516
|
|
NM_004006.3(DMD):c.402del (p.Asn135fs)
|
|
|
NM_004006.3(DMD):c.4033G>C (p.Glu1345Gln)
|
rs2148193515
|
|
NM_004006.3(DMD):c.4033dup (p.Glu1345fs)
|
rs2148193545
|
|
NM_004006.3(DMD):c.4036A>C (p.Thr1346Pro)
|
|
|
NM_004006.3(DMD):c.4037C>T (p.Thr1346Ile)
|
rs766890056
|
|
NM_004006.3(DMD):c.4038A>G (p.Thr1346=)
|
|
|
NM_004006.3(DMD):c.4039T>C (p.Phe1347Leu)
|
|
|
NM_004006.3(DMD):c.4045T>A (p.Ser1349Thr)
|
|
|
NM_004006.3(DMD):c.4046C>T (p.Ser1349Phe)
|
|
|
NM_004006.3(DMD):c.4049G>T (p.Arg1350Leu)
|
|
|
NM_004006.3(DMD):c.4051T>C (p.Trp1351Arg)
|
rs2098269032
|
|
NM_004006.3(DMD):c.4052G>T (p.Trp1351Leu)
|
|
|
NM_004006.3(DMD):c.4057G>A (p.Glu1353Lys)
|
|
|
NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)
|
rs907237595
|
|
NM_004006.3(DMD):c.4058A>G (p.Glu1353Gly)
|
|
|
NM_004006.3(DMD):c.4059A>T (p.Glu1353Asp)
|
rs1287715135
|
|
NM_004006.3(DMD):c.405C>T (p.Asn135=)
|
rs2148807361
|
|
NM_004006.3(DMD):c.4060dup (p.Leu1354fs)
|
rs2148193045
|
|
NM_004006.3(DMD):c.4062A>G (p.Leu1354=)
|
rs2148193023
|
|
NM_004006.3(DMD):c.4071+11A>G
|
|
|
NM_004006.3(DMD):c.4071+18A>C
|
rs2148192779
|
|
NM_004006.3(DMD):c.4071+18A>T
|
|
|
NM_004006.3(DMD):c.4071+1G>A
|
rs1060502643
|
|
NM_004006.3(DMD):c.4071+8G>A
|
rs2148192833
|
|
NM_004006.3(DMD):c.4071G>C (p.Glu1357Asp)
|
rs398123947
|
|
NM_004006.3(DMD):c.4072-10T>C
|
rs2147936852
|
|
NM_004006.3(DMD):c.4072-11C>T
|
rs748683533
|
|
NM_004006.3(DMD):c.4072-12C>T
|
rs755069008
|
|
NM_004006.3(DMD):c.4072-15A>T
|
|
|
NM_004006.3(DMD):c.4072-18C>T
|
|
|
NM_004006.3(DMD):c.4072-19T>C
|
|
|
NM_004006.3(DMD):c.4072-1G>T
|
rs1060502637
|
|
NM_004006.3(DMD):c.4072-3del
|
|
|
NM_004006.3(DMD):c.4072-4T>C
|
rs755064178
|
|
NM_004006.3(DMD):c.4072-6T>A
|
|
|
NM_004006.3(DMD):c.4074T>C (p.Ala1358=)
|
rs1603632897
|
|
NM_004006.3(DMD):c.4075G>A (p.Val1359Ile)
|
|
|
NM_004006.3(DMD):c.4077A>G (p.Val1359=)
|
|
|
NM_004006.3(DMD):c.4077A>T (p.Val1359=)
|
|
|
NM_004006.3(DMD):c.4082G>A (p.Arg1361Lys)
|
rs753639717
|
|
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr)
|
rs753639717
|
|
NM_004006.3(DMD):c.4082G>T (p.Arg1361Met)
|
rs753639717
|
|
NM_004006.3(DMD):c.4089G>A (p.Lys1363=)
|
rs956187688
|
|
NM_004006.3(DMD):c.408T>C (p.Ser136=)
|
|
|
NM_004006.3(DMD):c.4090T>C (p.Leu1364=)
|
rs1252905257
|
|
NM_004006.3(DMD):c.4090T>G (p.Leu1364Val)
|
rs1252905257
|
|
NM_004006.3(DMD):c.4092G>C (p.Leu1364Phe)
|
rs1603632896
|
|
NM_004006.3(DMD):c.4095T>C (p.Leu1365=)
|
|
|
NM_004006.3(DMD):c.40_41del (p.Glu14fs)
|
rs1060502652
|
|
NM_004006.3(DMD):c.4102A>G (p.Ser1368Gly)
|
rs1557340477
|
|
NM_004006.3(DMD):c.4115C>T (p.Ala1372Val)
|
rs759108067
|
|
NM_004006.3(DMD):c.4116C>T (p.Ala1372=)
|
|
|
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)
|
rs398123948
|
|
NM_004006.3(DMD):c.4119G>A (p.Gln1373=)
|
|
|
NM_004006.3(DMD):c.4122G>A (p.Glu1374=)
|
rs1368774604
|
|
NM_004006.3(DMD):c.4123A>G (p.Thr1375Ala)
|
rs2147935928
|
|
NM_004006.3(DMD):c.4127A>C (p.Glu1376Ala)
|
rs2098143155
|
|
NM_004006.3(DMD):c.4128A>G (p.Glu1376=)
|
|
|
NM_004006.3(DMD):c.4130A>C (p.Lys1377Thr)
|
|
|
NM_004006.3(DMD):c.4134C>T (p.Ser1378=)
|
rs2147935655
|
|
NM_004006.3(DMD):c.4138C>T (p.His1380Tyr)
|
|
|
NM_004006.3(DMD):c.4139A>G (p.His1380Arg)
|
rs2098143120
|
|
NM_004006.3(DMD):c.4140C>G (p.His1380Gln)
|
|
|
NM_004006.3(DMD):c.4143A>T (p.Leu1381Phe)
|
rs2098143108
|
|
NM_004006.3(DMD):c.4146C>T (p.Ile1382=)
|
rs1428423169
|
|
NM_004006.3(DMD):c.4147C>T (p.Gln1383Ter)
|
rs2147935442
|
|
NM_004006.3(DMD):c.4148A>G (p.Gln1383Arg)
|
|
|
NM_004006.3(DMD):c.4149G>A (p.Gln1383=)
|
|
|
NM_004006.3(DMD):c.4155C>T (p.Ser1385=)
|
|
|
NM_004006.3(DMD):c.4158C>G (p.Leu1386=)
|
|
|
NM_004006.3(DMD):c.4158C>T (p.Leu1386=)
|
rs780038701
|
|
NM_004006.3(DMD):c.4161A>C (p.Thr1387=)
|
|
|
NM_004006.3(DMD):c.4166T>C (p.Ile1389Thr)
|
rs2147935115
|
|
NM_004006.3(DMD):c.4168G>A (p.Asp1390Asn)
|
|
|
NM_004006.3(DMD):c.416T>C (p.Ile139Thr)
|
rs2148807220
|
|
NM_004006.3(DMD):c.4170C>G (p.Asp1390Glu)
|
rs886043687
|
|
NM_004006.3(DMD):c.4170C>T (p.Asp1390=)
|
rs886043687
|
|
NM_004006.3(DMD):c.4171A>T (p.Lys1391Ter)
|
rs2147935042
|
|
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg)
|
rs1603632892
|
|
NM_004006.3(DMD):c.4173G>A (p.Lys1391=)
|
rs1342943875
|
|
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)
|
rs886043496
|
|
NM_004006.3(DMD):c.4177T>C (p.Leu1393=)
|
|
|
NM_004006.3(DMD):c.4187A>G (p.Tyr1396Cys)
|
|
|
NM_004006.3(DMD):c.4188T>C (p.Tyr1396=)
|
|
|
NM_004006.3(DMD):c.418C>G (p.Leu140Val)
|
|
|
NM_004006.3(DMD):c.418del (p.Leu140fs)
|
rs2148807197
|
|
NM_004006.3(DMD):c.4190T>C (p.Ile1397Thr)
|
rs974271827
|
|
NM_004006.3(DMD):c.4191dup (p.Ala1398fs)
|
|
|
NM_004006.3(DMD):c.4197C>T (p.Asp1399=)
|
rs1285677282
|
|
NM_004006.3(DMD):c.4200G>A (p.Lys1400=)
|
rs1018427863
|
|
NM_004006.3(DMD):c.4203G>A (p.Val1401=)
|
rs2147934487
|
|
NM_004006.3(DMD):c.4206C>A (p.Asp1402Glu)
|
rs766668051
|
|
NM_004006.3(DMD):c.4209A>G (p.Ala1403=)
|
|
|
NM_004006.3(DMD):c.420C>G (p.Leu140=)
|
rs2077780083
|
|
NM_004006.3(DMD):c.4210G>C (p.Ala1404Pro)
|
|
|
NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter)
|
rs128626247
|
|
NM_004006.3(DMD):c.4214A>T (p.Gln1405Leu)
|
rs2098142833
|
|
NM_004006.3(DMD):c.4220C>A (p.Pro1407His)
|
|
|
NM_004006.3(DMD):c.4221T>A (p.Pro1407=)
|
rs2147934210
|
|
NM_004006.3(DMD):c.4221T>C (p.Pro1407=)
|
rs2147934210
|
|
NM_004006.3(DMD):c.4223A>G (p.Gln1408Arg)
|
|
|
NM_004006.3(DMD):c.4227A>T (p.Glu1409Asp)
|
|
|
NM_004006.3(DMD):c.4230C>G (p.Ala1410=)
|
rs1375731794
|
|
NM_004006.3(DMD):c.4230C>T (p.Ala1410=)
|
rs1375731794
|
|
NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter)
|
rs1010666282
|
|
NM_004006.3(DMD):c.4232A>G (p.Gln1411Arg)
|
|
|
NM_004006.3(DMD):c.4233+12T>A
|
|
|
NM_004006.3(DMD):c.4233+14G>T
|
rs777029422
|
|
NM_004006.3(DMD):c.4233+19C>G
|
|
|
NM_004006.3(DMD):c.4233+20A>T
|
|
|
NM_004006.3(DMD):c.4233+4A>C
|
rs1060502617
|
|
NM_004006.3(DMD):c.4233+9A>C
|
|
|
NM_004006.3(DMD):c.4234-10C>T
|
|
|
NM_004006.3(DMD):c.4234-10del
|
rs2147621961
|
|
NM_004006.3(DMD):c.4234-2A>G
|
|
|
NM_004006.3(DMD):c.4234-3C>T
|
|
|
NM_004006.3(DMD):c.4234-6C>T
|
|
|
NM_004006.3(DMD):c.4235_4237dup (p.Lys1412dup)
|
rs2097991507
|
|
NM_004006.3(DMD):c.423G>A (p.Leu141=)
|
rs2148807117
|
|
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)
|
rs863224997
|
|
NM_004006.3(DMD):c.4241A>G (p.Gln1414Arg)
|
rs562517517
|
|
NM_004006.3(DMD):c.4243T>A (p.Ser1415Thr)
|
|
|
NM_004006.3(DMD):c.4248T>C (p.Asp1416=)
|
rs374513637
|
|
NM_004006.3(DMD):c.424A>G (p.Ser142Gly)
|
rs1010307830
|
|
NM_004006.3(DMD):c.424A>T (p.Ser142Cys)
|
|
|
NM_004006.3(DMD):c.4259A>G (p.His1420Arg)
|
|
|
NM_004006.3(DMD):c.4263G>A (p.Glu1421=)
|
rs2097991306
|
|
NM_004006.3(DMD):c.4266C>T (p.Ile1422=)
|
rs2147621228
|
|
NM_004006.3(DMD):c.4268G>C (p.Ser1423Thr)
|
|
|
NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter)
|
rs2097991272
|
|
NM_004006.3(DMD):c.4273G>T (p.Glu1425Ter)
|
rs2147621084
|
|
NM_004006.3(DMD):c.4274A>C (p.Glu1425Ala)
|
|
|
NM_004006.3(DMD):c.4281G>A (p.Met1427Ile)
|
|
|
NM_004006.3(DMD):c.4284G>A (p.Lys1428=)
|
rs2147620893
|
|
NM_004006.3(DMD):c.4289A>G (p.His1430Arg)
|
rs1603632327
|
|
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)
|
rs1603632326
|
|
NM_004006.3(DMD):c.4295del (p.Gln1432fs)
|
rs1557322834
|
|
NM_004006.3(DMD):c.4296G>A (p.Gln1432=)
|
rs747262903
|
|
NM_004006.3(DMD):c.4296G>C (p.Gln1432His)
|
rs747262903
|
|
NM_004006.3(DMD):c.4299_4306dup (p.Ala1436fs)
|
rs2147620247
|
|
NM_004006.3(DMD):c.4303G>A (p.Glu1435Lys)
|
|
|
NM_004006.3(DMD):c.4304A>G (p.Glu1435Gly)
|
|
|
NM_004006.3(DMD):c.4305G>A (p.Glu1435=)
|
rs2147620275
|
|
NM_004006.3(DMD):c.4307C>A (p.Ala1436Asp)
|
rs886042798
|
|
NM_004006.3(DMD):c.4309G>T (p.Ala1437Ser)
|
rs886043766
|
|
NM_004006.3(DMD):c.430dup (p.Val144fs)
|
|
|
NM_004006.3(DMD):c.4310C>T (p.Ala1437Val)
|
|
|
NM_004006.3(DMD):c.4311C>G (p.Ala1437=)
|
rs1410304028
|
|
NM_004006.3(DMD):c.4311C>T (p.Ala1437=)
|
rs1410304028
|
|
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4317A>G (p.Arg1439=)
|
|
|
NM_004006.3(DMD):c.4318G>A (p.Val1440Ile)
|
|
|
NM_004006.3(DMD):c.4319T>A (p.Val1440Asp)
|
|
|
NM_004006.3(DMD):c.4323G>A (p.Leu1441=)
|
|
|
NM_004006.3(DMD):c.4323G>T (p.Leu1441=)
|
rs777712150
|
|
NM_004006.3(DMD):c.4331T>C (p.Ile1444Thr)
|
|
|
NM_004006.3(DMD):c.4334A>G (p.Asp1445Gly)
|
|
|
NM_004006.3(DMD):c.4335T>C (p.Asp1445=)
|
|
|
NM_004006.3(DMD):c.433C>G (p.Arg145Gly)
|
rs128626235
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.4343A>T (p.Gln1448Leu)
|
|
|
NM_004006.3(DMD):c.4344+16G>T
|
|
|
NM_004006.3(DMD):c.4344+16_4344+18del
|
rs2147619097
|
|
NM_004006.3(DMD):c.4344+4T>G
|
|
|
NM_004006.3(DMD):c.4344+6T>A
|
|
|
NM_004006.3(DMD):c.4345-14C>T
|
rs2147614274
|
|
NM_004006.3(DMD):c.4345-15A>G
|
|
|
NM_004006.3(DMD):c.4345-15A>T
|
|
|
NM_004006.3(DMD):c.4345-16T>C
|
|
|
NM_004006.3(DMD):c.4345-1G>C
|
rs2147613901
|
|
NM_004006.3(DMD):c.4345-1_4355del
|
|
|
NM_004006.3(DMD):c.4345-5del
|
|
|
NM_004006.3(DMD):c.4345-6T>C
|
|
|
NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter)
|
rs2147613866
|
|
NM_004006.3(DMD):c.434G>C (p.Arg145Pro)
|
rs398123952
|
|
NM_004006.3(DMD):c.4350dup (p.Leu1451fs)
|
rs772220893
|
|
NM_004006.3(DMD):c.4351T>C (p.Leu1451=)
|
|
|
NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter)
|
rs1603632316
|
|
NM_004006.3(DMD):c.4358A>G (p.Asp1453Gly)
|
|
|
NM_004006.3(DMD):c.4359T>C (p.Asp1453=)
|
rs753410642
|
|
NM_004006.3(DMD):c.4362C>T (p.Val1454=)
|
|
|
NM_004006.3(DMD):c.4374T>C (p.Phe1458=)
|
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
NM_004006.3(DMD):c.4384C>T (p.Gln1462Ter)
|
rs2147613231
|
|
NM_004006.3(DMD):c.4390C>G (p.Pro1464Ala)
|
|
|
NM_004006.3(DMD):c.4394C>T (p.Ala1465Val)
|
rs755496708
|
|
NM_004006.3(DMD):c.4401T>G (p.Phe1467Leu)
|
|
|
NM_004006.3(DMD):c.4403A>G (p.Glu1468Gly)
|
|
|
NM_004006.3(DMD):c.4408C>T (p.Arg1470Cys)
|
|
|
NM_004006.3(DMD):c.4409G>A (p.Arg1470His)
|
rs752129019
|
|
NM_004006.3(DMD):c.4411C>T (p.Leu1471=)
|
|
|
NM_004006.3(DMD):c.4413A>T (p.Leu1471=)
|
|
|
NM_004006.3(DMD):c.4413_4416del (p.Gln1472fs)
|
rs2147612475
|
|
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)
|
rs128626248
|
|
NM_004006.3(DMD):c.4414del (p.Gln1472fs)
|
rs2147612526
|
|
NM_004006.3(DMD):c.4418A>C (p.Glu1473Ala)
|
|
|
NM_004006.3(DMD):c.441A>G (p.Ser147=)
|
|
|
NM_004006.3(DMD):c.4421G>A (p.Ser1474Asn)
|
rs398123956
|
|
NM_004006.3(DMD):c.4424A>C (p.Lys1475Thr)
|
|
|
NM_004006.3(DMD):c.442A>C (p.Thr148Pro)
|
rs2077778100
|
|
NM_004006.3(DMD):c.4433T>G (p.Leu1478Ter)
|
rs1603632312
|
|
NM_004006.3(DMD):c.4435G>A (p.Asp1479Asn)
|
rs886044457
|
|
NM_004006.3(DMD):c.4447A>G (p.Met1483Val)
|
rs2147611951
|
|
NM_004006.3(DMD):c.4457C>A (p.Pro1486His)
|
|
|
NM_004006.3(DMD):c.445C>A (p.Arg149Ser)
|
rs774139970
|
|
NM_004006.3(DMD):c.445C>T (p.Arg149Cys)
|
rs774139970
|
|
NM_004006.3(DMD):c.4462T>C (p.Leu1488=)
|
rs2147611527
|
|
NM_004006.3(DMD):c.4467A>G (p.Glu1489=)
|
|
|
NM_004006.3(DMD):c.4468A>C (p.Thr1490Pro)
|
rs2147611427
|
|
NM_004006.3(DMD):c.4468A>T (p.Thr1490Ser)
|
|
|
NM_004006.3(DMD):c.446G>C (p.Arg149Pro)
|
rs771307588
|
|
NM_004006.3(DMD):c.4471A>G (p.Lys1491Glu)
|
rs1215768839
|
|
NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs)
|
rs398123957
|
|
NM_004006.3(DMD):c.4477G>A (p.Val1493Met)
|
rs2097986154
|
|
NM_004006.3(DMD):c.4477G>T (p.Val1493Leu)
|
rs2097986154
|
|
NM_004006.3(DMD):c.447T>C (p.Arg149=)
|
rs2077777455
|
|
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)
|
rs748769566
|
|
NM_004006.3(DMD):c.4488A>G (p.Glu1496=)
|
rs2147611028
|
|
NM_004006.3(DMD):c.4499C>A (p.Ser1500Ter)
|
rs2147610804
|
|
NM_004006.3(DMD):c.4500A>G (p.Ser1500=)
|
|
|
NM_004006.3(DMD):c.4501C>T (p.Gln1501Ter)
|
rs1557322201
|
|
NM_004006.3(DMD):c.4504C>T (p.Leu1502=)
|
rs1603632308
|
|
NM_004006.3(DMD):c.4508A>C (p.Asn1503Thr)
|
rs2097985832
|
|
NM_004006.3(DMD):c.4511A>G (p.His1504Arg)
|
|
|
NM_004006.3(DMD):c.4512T>C (p.His1504=)
|
|
|
NM_004006.3(DMD):c.4513T>C (p.Cys1505Arg)
|
|
|
NM_004006.3(DMD):c.4515T>A (p.Cys1505Ter)
|
rs2147610488
|
|
NM_004006.3(DMD):c.4518+12T>C
|
|
|
NM_004006.3(DMD):c.4518+19A>G
|
|
|
NM_004006.3(DMD):c.4518+2T>G
|
rs2147610382
|
|
NM_004006.3(DMD):c.4518+5G>A
|
rs398123960
|
|
NM_004006.3(DMD):c.4518+5G>C
|
rs398123960
|
|
NM_004006.3(DMD):c.4518G>A (p.Val1506=)
|
rs1557322177
|
|
NM_004006.3(DMD):c.4519-15T>C
|
|
|
NM_004006.3(DMD):c.4519-19del
|
|
|
NM_004006.3(DMD):c.4519-2_4523del
|
|
|
NM_004006.3(DMD):c.4519-5C>A
|
|
|
NM_004006.3(DMD):c.4521C>T (p.Asn1507=)
|
rs2147560055
|
|
NM_004006.3(DMD):c.4530_4531del (p.Leu1512fs)
|
|
|
NM_004006.3(DMD):c.4536G>A (p.Leu1512=)
|
rs2147559704
|
|
NM_004006.3(DMD):c.4536G>T (p.Leu1512=)
|
rs2147559704
|
|
NM_004006.3(DMD):c.4537A>C (p.Ser1513Arg)
|
rs1569560628
|
|
NM_004006.3(DMD):c.4539T>C (p.Ser1513=)
|
|
|
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer)
|
rs398123962
|
|
NM_004006.3(DMD):c.4550C>T (p.Ser1517Phe)
|
|
|
NM_004006.3(DMD):c.455C>T (p.Pro152Leu)
|
|
|
NM_004006.3(DMD):c.4564del (p.Met1521_Val1522insTer)
|
|
|
NM_004006.3(DMD):c.4569A>G (p.Ile1523Met)
|
|
|
NM_004006.3(DMD):c.4570_4573del (p.Lys1524fs)
|
|
|
NM_004006.3(DMD):c.4573A>G (p.Thr1525Ala)
|
rs751320057
|
|
NM_004006.3(DMD):c.457C>T (p.Gln153Ter)
|
rs886042983
|
|
NM_004006.3(DMD):c.4580G>A (p.Arg1527His)
|
rs2097958484
|
|
NM_004006.3(DMD):c.4581T>A (p.Arg1527=)
|
|
|
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)
|
rs1557320194
|
|
NM_004006.3(DMD):c.459G>A (p.Gln153=)
|
|
|
NM_004006.3(DMD):c.4600C>T (p.Gln1534Ter)
|
rs2097958423
|
|
NM_004006.3(DMD):c.4605_4606delinsTA (p.Glu1536Lys)
|
rs2147558571
|
|
NM_004006.3(DMD):c.4610dup (p.Asn1537fs)
|
rs1603632245
|
|
NM_004006.3(DMD):c.4614C>T (p.Pro1538=)
|
rs2147558333
|
|
NM_004006.3(DMD):c.4615A>G (p.Lys1539Glu)
|
|
|
NM_004006.3(DMD):c.4617A>G (p.Lys1539=)
|
|
|
NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)
|
rs1557320151
|
|
NM_004006.3(DMD):c.4626_4627dup (p.Glu1543fs)
|
|
|
NM_004006.3(DMD):c.4627G>T (p.Glu1543Ter)
|
rs2147558029
|
|
NM_004006.3(DMD):c.462T>C (p.Val154=)
|
|
|
NM_004006.3(DMD):c.4634T>C (p.Val1545Ala)
|
rs2097958214
|
|
NM_004006.3(DMD):c.4634dup (p.Thr1546fs)
|
rs398123963
|
|
NM_004006.3(DMD):c.4635A>T (p.Val1545=)
|
rs2147557809
|
|
NM_004006.3(DMD):c.4638A>C (p.Thr1546=)
|
|
|
NM_004006.3(DMD):c.4638dup (p.Ala1547fs)
|
|
|
NM_004006.3(DMD):c.4640C>T (p.Ala1547Val)
|
|
|
NM_004006.3(DMD):c.4644G>A (p.Leu1548=)
|
rs2097958166
|
|
NM_004006.3(DMD):c.4648T>C (p.Leu1550=)
|
rs2147557581
|
|
NM_004006.3(DMD):c.464A>G (p.Asn155Ser)
|
rs2148806581
|
|
NM_004006.3(DMD):c.465T>C (p.Asn155=)
|
rs2148806561
|
|
NM_004006.3(DMD):c.4660G>A (p.Glu1554Lys)
|
rs1216000876
|
|
NM_004006.3(DMD):c.4664T>G (p.Leu1555Arg)
|
rs2147557285
|
|
NM_004006.3(DMD):c.4667G>C (p.Gly1556Ala)
|
rs2147557186
|
|
NM_004006.3(DMD):c.4668A>G (p.Gly1556=)
|
|
|
NM_004006.3(DMD):c.466G>A (p.Val156Ile)
|
|
|
NM_004006.3(DMD):c.4671A>C (p.Ala1557=)
|
rs1603632244
|
|
NM_004006.3(DMD):c.4672A>C (p.Lys1558Gln)
|
|
|
NM_004006.3(DMD):c.4674+10T>G
|
rs1488532734
|
|
NM_004006.3(DMD):c.4674+14G>A
|
|
|
NM_004006.3(DMD):c.4674+17A>T
|
|
|
NM_004006.3(DMD):c.4674+18C>G
|
|
|
NM_004006.3(DMD):c.4674+19C>G
|
|
|
NM_004006.3(DMD):c.4674+5G>A
|
|
|
NM_004006.3(DMD):c.4674+7G>T
|
|
|
NM_004006.3(DMD):c.4674+9A>G
|
rs2147556976
|
|
NM_004006.3(DMD):c.4674G>A (p.Lys1558=)
|
|
|
NM_004006.3(DMD):c.4675-10T>C
|
rs2147473556
|
|
NM_004006.3(DMD):c.4675-11A>G
|
rs1557316295
|
|
NM_004006.3(DMD):c.4675-18C>A
|
|
|
NM_004006.3(DMD):c.4675-19T>A
|
|
|
NM_004006.3(DMD):c.4675-1G>A
|
rs2097921115
|
|
NM_004006.3(DMD):c.4675-5T>C
|
|
|
NM_004006.3(DMD):c.4675-6T>G
|
|
|
NM_004006.3(DMD):c.4675-8C>A
|
rs1304106121
|
|
NM_004006.3(DMD):c.4675-8C>G
|
|
|
NM_004006.3(DMD):c.4675-9T>C
|
|
|
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs)
|
rs1603632119
|
|
NM_004006.3(DMD):c.4689G>A (p.Lys1563=)
|
rs2147472946
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
NM_004006.3(DMD):c.4691A>G (p.Gln1564Arg)
|
rs2097921065
|
|
NM_004006.3(DMD):c.4693C>G (p.Gln1565Glu)
|
rs1603632117
|
|
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)
|
rs1603632117
|
|
NM_004006.3(DMD):c.4694del (p.Gln1565fs)
|
rs2147472734
|
|
NM_004006.3(DMD):c.469A>C (p.Ile157Leu)
|
rs773473691
|
|
NM_004006.3(DMD):c.4700A>C (p.Glu1567Ala)
|
|
|
NM_004006.3(DMD):c.4705T>C (p.Cys1569Arg)
|
rs2097921010
|
|
NM_004006.3(DMD):c.4707C>T (p.Cys1569=)
|
|
|
NM_004006.3(DMD):c.4716G>A (p.Leu1572=)
|
rs2147472301
|
|
NM_004006.3(DMD):c.4722T>G (p.Arg1574=)
|
|
|
NM_004006.3(DMD):c.4725G>A (p.Lys1575=)
|
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.472A>C (p.Asn158His)
|
rs2148806453
|
|
NM_004006.3(DMD):c.4730G>T (p.Arg1577Leu)
|
rs753830915
|
|
NM_004006.3(DMD):c.4734G>A (p.Lys1578=)
|
rs1603632116
|
|
NM_004006.3(DMD):c.4738_4742del (p.Met1580fs)
|
rs2147471723
|
|
NM_004006.3(DMD):c.4739T>C (p.Met1580Thr)
|
|
|
NM_004006.3(DMD):c.4739T>G (p.Met1580Arg)
|
rs764192677
|
|
NM_004006.3(DMD):c.473A>C (p.Asn158Thr)
|
rs2077775713
|
|
NM_004006.3(DMD):c.4743T>A (p.Asn1581Lys)
|
|
|
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)
|
rs398123965
|
|
NM_004006.3(DMD):c.4747T>C (p.Leu1583=)
|
rs1060504673
|
|
NM_004006.3(DMD):c.474C>G (p.Asn158Lys)
|
|
|
NM_004006.3(DMD):c.474C>T (p.Asn158=)
|
rs1324314201
|
|
NM_004006.3(DMD):c.4761G>T (p.Leu1587=)
|
rs2147471303
|
|
NM_004006.3(DMD):c.4763C>T (p.Ala1588Val)
|
|
|
NM_004006.3(DMD):c.4769C>T (p.Thr1590Ile)
|
rs907514288
|
|
NM_004006.3(DMD):c.4770A>G (p.Thr1590=)
|
rs2147471069
|
|
NM_004006.3(DMD):c.4773_4778del (p.Asp1591_Met1592del)
|
rs2147470879
|
|
NM_004006.3(DMD):c.4774A>G (p.Met1592Val)
|
|
|
NM_004006.3(DMD):c.4777G>T (p.Glu1593Ter)
|
rs2097920711
|
|
NM_004006.3(DMD):c.477C>T (p.Phe159=)
|
|
|
NM_004006.3(DMD):c.4780T>C (p.Leu1594=)
|
rs1359144760
|
|
NM_004006.3(DMD):c.4781del (p.Glu1593_Leu1594insTer)
|
|
|
NM_004006.3(DMD):c.4789A>C (p.Arg1597=)
|
rs1333017696
|
|
NM_004006.3(DMD):c.4793C>A (p.Ser1598Ter)
|
rs2147470500
|
|
NM_004006.3(DMD):c.479C>A (p.Thr160Asn)
|
rs748752465
|
|
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del)
|
rs1569528101
|
|
NM_004006.3(DMD):c.4808T>C (p.Met1603Thr)
|
rs2147470301
|
|
NM_004006.3(DMD):c.4811C>G (p.Pro1604Arg)
|
rs747218608
|
|
NM_004006.3(DMD):c.4813A>G (p.Ser1605Gly)
|
rs778702600
|
|
NM_004006.3(DMD):c.4821G>A (p.Leu1607=)
|
|
|
NM_004006.3(DMD):c.4830A>G (p.Glu1610=)
|
rs757114307
|
|
NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)
|
rs1557315928
|
|
NM_004006.3(DMD):c.483C>A (p.Thr161=)
|
rs1210192846
|
|
NM_004006.3(DMD):c.483C>T (p.Thr161=)
|
rs1210192846
|
|
NM_004006.3(DMD):c.4842A>T (p.Gly1614=)
|
rs398123968
|
|
NM_004006.3(DMD):c.4845+10A>T
|
|
|
NM_004006.3(DMD):c.4845+12A>G
|
|
|
NM_004006.3(DMD):c.4845+16C>A
|
|
|
NM_004006.3(DMD):c.4845+16C>T
|
|
|
NM_004006.3(DMD):c.4845+5A>C
|
|
|
NM_004006.3(DMD):c.4845+6dup
|
|
|
NM_004006.3(DMD):c.4845+8C>T
|
rs886043459
|
|
NM_004006.3(DMD):c.4845+8del
|
|
|
NM_004006.3(DMD):c.4845G>A (p.Lys1615=)
|
rs1557315896
|
|
NM_004006.3(DMD):c.4845G>C (p.Lys1615Asn)
|
rs1557315896
|
|
NM_004006.3(DMD):c.4846-10C>T
|
rs2147261612
|
|
NM_004006.3(DMD):c.4846-11C>G
|
|
|
NM_004006.3(DMD):c.4846-11C>T
|
rs2097850349
|
|
NM_004006.3(DMD):c.4846-16G>A
|
rs1603631758
|
|
NM_004006.3(DMD):c.4846-19A>G
|
|
|
NM_004006.3(DMD):c.4846-1G>C
|
rs1603631757
|
|
NM_004006.3(DMD):c.4846-1G>T
|
rs1603631757
|
|
NM_004006.3(DMD):c.4846-3C>G
|
|
|
NM_004006.3(DMD):c.4846-5C>A
|
rs1557305776
|
|
NM_004006.3(DMD):c.4846-5C>T
|
rs1557305776
|
|
NM_004006.3(DMD):c.4846-6T>C
|
|
|
NM_004006.3(DMD):c.4847C>T (p.Ala1616Val)
|
rs370167370
|
|
NM_004006.3(DMD):c.4852C>T (p.Gln1618Ter)
|
rs1085307535
|
|
NM_004006.3(DMD):c.4853A>C (p.Gln1618Pro)
|
|
|
NM_004006.3(DMD):c.4858G>C (p.Glu1620Gln)
|
rs1060502645
|
|
NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)
|
rs1060502645
|
|
NM_004006.3(DMD):c.4860G>A (p.Glu1620=)
|
rs2147261352
|
|
NM_004006.3(DMD):c.4864G>A (p.Glu1622Lys)
|
|
|
NM_004006.3(DMD):c.4864G>T (p.Glu1622Ter)
|
rs2147261270
|
|
NM_004006.3(DMD):c.4867A>G (p.Lys1623Glu)
|
|
|
NM_004006.3(DMD):c.4870C>G (p.Gln1624Glu)
|
|
|
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)
|
rs762250680
|
|
NM_004006.3(DMD):c.4878G>A (p.Val1626=)
|
rs61733574
|
|
NM_004006.3(DMD):c.4879C>T (p.His1627Tyr)
|
|
|
NM_004006.3(DMD):c.487T>A (p.Trp163Arg)
|
rs2077774276
|
|
NM_004006.3(DMD):c.4881C>T (p.His1627=)
|
rs886043184
|
|
NM_004006.3(DMD):c.4882C>A (p.Leu1628Met)
|
rs1172674386
|
|
NM_004006.3(DMD):c.488G>A (p.Trp163Ter)
|
rs2077774135
|
|
NM_004006.3(DMD):c.4890T>A (p.Ser1630Arg)
|
rs1603631755
|
|
NM_004006.3(DMD):c.4895C>T (p.Thr1632Ile)
|
rs2147260815
|
|
NM_004006.3(DMD):c.4896A>C (p.Thr1632=)
|
rs2147260790
|
|
NM_004006.3(DMD):c.4897G>T (p.Glu1633Ter)
|
rs370800101
|
|
NM_004006.3(DMD):c.4899G>A (p.Glu1633=)
|
rs886044407
|
|
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp)
|
rs886044407
|
|
NM_004006.3(DMD):c.4902A>C (p.Val1634=)
|
rs772376020
|
|
NM_004006.3(DMD):c.4902A>G (p.Val1634=)
|
|
|
NM_004006.3(DMD):c.4902_4908del (p.Gly1635fs)
|
rs398123971
|
|
NM_004006.3(DMD):c.4903G>T (p.Gly1635Ter)
|
rs2097850128
|
|
NM_004006.3(DMD):c.4905A>G (p.Gly1635=)
|
rs2147260581
|
|
NM_004006.3(DMD):c.4909G>A (p.Ala1637Thr)
|
rs2097850083
|
|
NM_004006.3(DMD):c.4910C>A (p.Ala1637Asp)
|
|
|
NM_004006.3(DMD):c.4911C>G (p.Ala1637=)
|
|
|
NM_004006.3(DMD):c.4911C>T (p.Ala1637=)
|
|
|
NM_004006.3(DMD):c.4914_4915del (p.Lys1639fs)
|
rs2097850041
|
|
NM_004006.3(DMD):c.4917A>G (p.Lys1639=)
|
|
|
NM_004006.3(DMD):c.4918_4919delinsTG (p.Thr1640Ter)
|
rs1557305645
|
|
NM_004006.3(DMD):c.4920A>C (p.Thr1640=)
|
rs2147260232
|
|
NM_004006.3(DMD):c.4926G>C (p.Leu1642Phe)
|
rs2147260154
|
|
NM_004006.3(DMD):c.4928G>C (p.Gly1643Ala)
|
|
|
NM_004006.3(DMD):c.4929C>T (p.Gly1643=)
|
|
|
NM_004006.3(DMD):c.492_511del (p.Asp165fs)
|
|
|
NM_004006.3(DMD):c.4930A>C (p.Lys1644Gln)
|
|
|
NM_004006.3(DMD):c.4934_4937del (p.Lys1645fs)
|
rs1060502632
|
|
NM_004006.3(DMD):c.4937A>G (p.Glu1646Gly)
|
|
|
NM_004006.3(DMD):c.4941G>A (p.Thr1647=)
|
rs750090479
|
|
NM_004006.3(DMD):c.4942T>C (p.Leu1648=)
|
rs138472027
|
|
NM_004006.3(DMD):c.4942T>G (p.Leu1648Val)
|
rs138472027
|
|
NM_004006.3(DMD):c.4945G>T (p.Val1649Leu)
|
rs1300066468
|
|
NM_004006.3(DMD):c.4947G>A (p.Val1649=)
|
rs2147259756
|
|
NM_004006.3(DMD):c.494A>T (p.Asp165Val)
|
rs1557052542
|
|
NM_004006.3(DMD):c.4953T>C (p.Asp1651=)
|
rs764476153
|
|
NM_004006.3(DMD):c.4960A>G (p.Ser1654Gly)
|
rs2147259553
|
|
NM_004006.3(DMD):c.4967T>A (p.Leu1656Gln)
|
|
|
NM_004006.3(DMD):c.4970A>C (p.Asn1657Thr)
|
|
|
NM_004006.3(DMD):c.4973G>A (p.Ser1658Asn)
|
rs794728999
|
|
NM_004006.3(DMD):c.4976A>G (p.Asn1659Ser)
|
|
|
NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)
|
rs2097849830
|
|
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
|
rs1603631752
|
|
NM_004006.3(DMD):c.4983del (p.Ile1661fs)
|
|
|
NM_004006.3(DMD):c.4986T>C (p.Ala1662=)
|
rs2147259262
|
|
NM_004006.3(DMD):c.4987G>A (p.Val1663Ile)
|
rs2147259228
|
|
NM_004006.3(DMD):c.498C>A (p.Gly166=)
|
rs1603437199
|
|
NM_004006.3(DMD):c.4994C>G (p.Ser1665Cys)
|
|
|
NM_004006.3(DMD):c.4995C>G (p.Ser1665=)
|
|
|
NM_004006.3(DMD):c.4996C>A (p.Arg1666=)
|
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.4997G>A (p.Arg1666Gln)
|
|
|
NM_004006.3(DMD):c.4997G>T (p.Arg1666Leu)
|
|
|
NM_004006.3(DMD):c.499C>T (p.Leu167=)
|
rs1033016117
|
|
NM_004006.3(DMD):c.5008T>G (p.Trp1670Gly)
|
|
|
NM_004006.3(DMD):c.5009G>A (p.Trp1670Ter)
|
rs2147258786
|
|
NM_004006.3(DMD):c.5015A>C (p.Asn1672Thr)
|
|
|
NM_004006.3(DMD):c.501G>C (p.Leu167=)
|
|
|
NM_004006.3(DMD):c.5021T>A (p.Leu1674Ter)
|
|
|
NM_004006.3(DMD):c.5025+11A>T
|
|
|
NM_004006.3(DMD):c.5025+13G>T
|
|
|
NM_004006.3(DMD):c.5025+16A>T
|
rs757909242
|
|
NM_004006.3(DMD):c.5025+1del
|
|
|
NM_004006.3(DMD):c.5025+20G>C
|
|
|
NM_004006.3(DMD):c.5026-10T>G
|
|
|
NM_004006.3(DMD):c.5026-2A>G
|
rs1569559849
|
|
NM_004006.3(DMD):c.5031C>G (p.Tyr1677Ter)
|
|
|
NM_004006.3(DMD):c.5031C>T (p.Tyr1677=)
|
|
|
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)
|
rs886042154
|
|
NM_004006.3(DMD):c.5041A>G (p.Met1681Val)
|
|
|
NM_004006.3(DMD):c.5043G>A (p.Met1681Ile)
|
rs1045187121
|
|
NM_004006.3(DMD):c.5044G>A (p.Glu1682Lys)
|
rs2147254367
|
|
NM_004006.3(DMD):c.5047A>C (p.Thr1683Pro)
|
rs1057515873
|
|
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
|
|
|
NM_004006.3(DMD):c.5051T>C (p.Phe1684Ser)
|
|
|
NM_004006.3(DMD):c.5054A>T (p.Asp1685Val)
|
|
|
NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter)
|
rs1603631744
|
|
NM_004006.3(DMD):c.5058G>C (p.Gln1686His)
|
|
|
NM_004006.3(DMD):c.5058G>T (p.Gln1686His)
|
|
|
NM_004006.3(DMD):c.505T>C (p.Leu169=)
|
rs2148806109
|
|
NM_004006.3(DMD):c.5063T>C (p.Val1688Ala)
|
|
|
NM_004006.3(DMD):c.5064G>T (p.Val1688=)
|
rs886044345
|
|
NM_004006.3(DMD):c.5068_5070del (p.His1690del)
|
rs761764494
|
|
NM_004006.3(DMD):c.5070C>T (p.His1690=)
|
rs780080912
|
|
NM_004006.3(DMD):c.5073C>A (p.Ile1691=)
|
rs2147253838
|
|
NM_004006.3(DMD):c.5075C>G (p.Thr1692Arg)
|
|
|
NM_004006.3(DMD):c.5078_5079AGA[2]CGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG[1] (p.Trp1694delinsLysThrCysLeuArgTer)
|
|
|
NM_004006.3(DMD):c.507G>A (p.Leu169=)
|
|
|
NM_004006.3(DMD):c.5081G>A (p.Trp1694Ter)
|
|
|
NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)
|
rs1295394996
|
|
NM_004006.3(DMD):c.5082G>T (p.Trp1694Cys)
|
|
|
NM_004006.3(DMD):c.5083A>C (p.Ile1695Leu)
|
|
|
NM_004006.3(DMD):c.5085C>T (p.Ile1695=)
|
|
|
NM_004006.3(DMD):c.5086A>T (p.Ile1696Phe)
|
|
|
NM_004006.3(DMD):c.5094T>C (p.Ala1698=)
|
|
|
NM_004006.3(DMD):c.5100A>C (p.Thr1700=)
|
|
|
NM_004006.3(DMD):c.5100A>G (p.Thr1700=)
|
rs2097848089
|
|
NM_004006.3(DMD):c.5100_5101del (p.Leu1701fs)
|
rs1060502647
|
|
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs)
|
rs2147253222
|
|
NM_004006.3(DMD):c.5107G>A (p.Asp1703Asn)
|
|
|
NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)
|
rs765445866
|
|
NM_004006.3(DMD):c.5112A>G (p.Glu1704=)
|
rs2147253098
|
|
NM_004006.3(DMD):c.5115A>C (p.Ser1705=)
|
rs2147252987
|
|
NM_004006.3(DMD):c.5115A>G (p.Ser1705=)
|
rs2147252987
|
|
NM_004006.3(DMD):c.5121A>G (p.Lys1707=)
|
|
|
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)
|
rs398123979
|
|
NM_004006.3(DMD):c.5127A>C (p.Lys1709Asn)
|
|
|
NM_004006.3(DMD):c.5133G>C (p.Gln1711His)
|
rs771957811
|
|
NM_004006.3(DMD):c.5134C>G (p.Gln1712Glu)
|
|
|
NM_004006.3(DMD):c.5139A>G (p.Lys1713=)
|
rs773674283
|
|
NM_004006.3(DMD):c.5139AGA[1] (p.Glu1714del)
|
|
|
NM_004006.3(DMD):c.5139del (p.Glu1714fs)
|
rs1557304860
|
|
NM_004006.3(DMD):c.513T>A (p.Ala171=)
|
|
|
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)
|
rs886042747
|
|
NM_004006.3(DMD):c.5145C>T (p.Asp1715=)
|
rs1170784861
|
|
NM_004006.3(DMD):c.5149C>A (p.Leu1717Ile)
|
rs769383291
|
|
NM_004006.3(DMD):c.5154+11A>G
|
rs2097847804
|
|
NM_004006.3(DMD):c.5154+17G>C
|
|
|
NM_004006.3(DMD):c.5154+2T>C
|
rs1569559822
|
|
NM_004006.3(DMD):c.5155-15G>A
|
|
|
NM_004006.3(DMD):c.5155-1G>T
|
rs1220757614
|
|
NM_004006.3(DMD):c.5155-3T>C
|
|
|
NM_004006.3(DMD):c.5155-8G>A
|
rs1367385862
|
|
NM_004006.3(DMD):c.5155-9G>A
|
|
|
NM_004006.3(DMD):c.5155-9G>C
|
rs2147235476
|
|
NM_004006.3(DMD):c.5166A>T (p.Ala1722=)
|
rs2147235177
|
|
NM_004006.3(DMD):c.5169A>G (p.Glu1723=)
|
rs2147235096
|
|
NM_004006.3(DMD):c.516C>T (p.Leu172=)
|
rs1442327438
|
|
NM_004006.3(DMD):c.5180T>C (p.Ile1727Thr)
|
|
|
NM_004006.3(DMD):c.5183G>C (p.Arg1728Pro)
|
|
|
NM_004006.3(DMD):c.5184C>G (p.Arg1728=)
|
|
|
NM_004006.3(DMD):c.5187A>G (p.Pro1729=)
|
rs1037540075
|
|
NM_004006.3(DMD):c.5188A>C (p.Lys1730Gln)
|
rs1473732566
|
|
NM_004006.3(DMD):c.5190G>T (p.Lys1730Asn)
|
rs1395872786
|
|
NM_004006.3(DMD):c.5195A>G (p.Asp1732Gly)
|
rs2097842164
|
|
NM_004006.3(DMD):c.5196C>T (p.Asp1732=)
|
rs2147234471
|
|
NM_004006.3(DMD):c.519C>A (p.Ile173=)
|
|
|
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala)
|
rs2097842153
|
|
NM_004006.3(DMD):c.5203C>A (p.Arg1735Ser)
|
rs147904018
|
|
NM_004006.3(DMD):c.5209C>T (p.Gln1737Ter)
|
rs2147234195
|
|
NM_004006.3(DMD):c.5212G>A (p.Ala1738Thr)
|
rs2147234161
|
|
NM_004006.3(DMD):c.5216C>T (p.Ala1739Val)
|
|
|
NM_004006.3(DMD):c.5217A>G (p.Ala1739=)
|
|
|
NM_004006.3(DMD):c.5223G>A (p.Leu1741=)
|
rs2097842045
|
|
NM_004006.3(DMD):c.5232C>T (p.Asn1744=)
|
rs2147233789
|
|
NM_004006.3(DMD):c.5234_5235delinsAT (p.Arg1745His)
|
rs2147233685
|
|
NM_004006.3(DMD):c.5238T>C (p.Gly1746=)
|
rs2147233588
|
|
NM_004006.3(DMD):c.5242C>G (p.His1748Asp)
|
|
|
NM_004006.3(DMD):c.5244C>T (p.His1748=)
|
rs2097841950
|
|
NM_004006.3(DMD):c.5253A>G (p.Lys1751=)
|
rs1557303579
|
|
NM_004006.3(DMD):c.5258T>G (p.Val1753Gly)
|
|
|
NM_004006.3(DMD):c.525T>C (p.Ser175=)
|
rs113776167
|
|
NM_004006.3(DMD):c.5262G>A (p.Glu1754=)
|
rs2147233325
|
|
NM_004006.3(DMD):c.5266C>G (p.Gln1756Glu)
|
|
|
NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter)
|
rs1557303544
|
|
NM_004006.3(DMD):c.5273C>A (p.Ser1758Ter)
|
rs2147233083
|
|
NM_004006.3(DMD):c.5279T>C (p.Leu1760Pro)
|
rs2097841814
|
|
NM_004006.3(DMD):c.5285A>G (p.His1762Arg)
|
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.5288G>A (p.Arg1763Gln)
|
rs398123982
|
|
NM_004006.3(DMD):c.5289A>T (p.Arg1763=)
|
rs2147232790
|
|
NM_004006.3(DMD):c.528T>A (p.His176Gln)
|
|
|
NM_004006.3(DMD):c.528T>C (p.His176=)
|
|
|
NM_004006.3(DMD):c.528_529del (p.His176fs)
|
rs2148805788
|
|
NM_004006.3(DMD):c.5296G>C (p.Ala1766Pro)
|
rs2147232676
|
|
NM_004006.3(DMD):c.5298C>G (p.Ala1766=)
|
rs2147232614
|
|
NM_004006.3(DMD):c.5298C>T (p.Ala1766=)
|
rs2147232614
|
|
NM_004006.3(DMD):c.5299A>C (p.Ile1767Leu)
|
|
|
NM_004006.3(DMD):c.530+12A>C
|
|
|
NM_004006.3(DMD):c.530+18A>G
|
|
|
NM_004006.3(DMD):c.530+7_530+9del
|
rs750507979
|
|
NM_004006.3(DMD):c.530+8dup
|
|
|
NM_004006.3(DMD):c.5307C>G (p.His1769Gln)
|
|
|
NM_004006.3(DMD):c.5307C>T (p.His1769=)
|
|
|
NM_004006.3(DMD):c.531-10T>A
|
rs747522183
|
|
NM_004006.3(DMD):c.531-10T>C
|
|
|
NM_004006.3(DMD):c.531-11A>G
|
|
|
NM_004006.3(DMD):c.531-11_531-6del
|
rs758404687
|
|
NM_004006.3(DMD):c.531-13G>T
|
rs769076693
|
|
NM_004006.3(DMD):c.531-16T>A
|
|
|
NM_004006.3(DMD):c.531-17ATGTGT[3]
|
rs758404687
|
|
NM_004006.3(DMD):c.531-19_531-12del
|
rs777913319
|
|
NM_004006.3(DMD):c.531-19_531-6del
|
rs1461325519
|
|
NM_004006.3(DMD):c.531-1G>A
|
rs1569526579
|
|
NM_004006.3(DMD):c.531-1G>C
|
rs1569526579
|
|
NM_004006.3(DMD):c.531-23GT[4]
|
|
|
NM_004006.3(DMD):c.531-23_531-18del
|
|
|
NM_004006.3(DMD):c.531-25_531-20del
|
|
|
NM_004006.3(DMD):c.531-2A>T
|
rs398123985
|
|
NM_004006.3(DMD):c.531-7_531-6del
|
rs2148751971
|
|
NM_004006.3(DMD):c.5313T>G (p.Ile1771Met)
|
|
|
NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)
|
rs886039535
|
|
NM_004006.3(DMD):c.5316G>T (p.Lys1772Asn)
|
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
NM_004006.3(DMD):c.5325+12T>C
|
|
|
NM_004006.3(DMD):c.5325+15T>C
|
|
|
NM_004006.3(DMD):c.5325+1730_5325+1758del
|
rs2147210128
|
|
NM_004006.3(DMD):c.5325+1740A>T
|
|
|
NM_004006.3(DMD):c.5325+1741G>A
|
|
|
NM_004006.3(DMD):c.5325+1742A>G
|
|
|
NM_004006.3(DMD):c.5325+1744A>G
|
|
|
NM_004006.3(DMD):c.5325+1747A>G
|
rs2147210257
|
|
NM_004006.3(DMD):c.5325+1752A>T
|
|
|
NM_004006.3(DMD):c.5325+1752dup
|
rs1202097887
|
|
NM_004006.3(DMD):c.5325+1754G>C
|
|
|
NM_004006.3(DMD):c.5325+1755G>T
|
|
|
NM_004006.3(DMD):c.5325+4G>C
|
|
|
NM_004006.3(DMD):c.5325+7A>G
|
|
|
NM_004006.3(DMD):c.5325+8G>A
|
|
|
NM_004006.3(DMD):c.5325+8G>C
|
|
|
NM_004006.3(DMD):c.5325+9A>T
|
rs2147232195
|
|
NM_004006.3(DMD):c.5326-10T>C
|
rs2147066383
|
|
NM_004006.3(DMD):c.5326-11dup
|
rs398123988
|
|
NM_004006.3(DMD):c.5326-12C>G
|
|
|
NM_004006.3(DMD):c.5326-16C>A
|
|
|
NM_004006.3(DMD):c.5326-19G>T
|
|
|
NM_004006.3(DMD):c.5326-3T>A
|
rs1388215542
|
|
NM_004006.3(DMD):c.5326-3del
|
rs398123988
|
|
NM_004006.3(DMD):c.5326-8T>C
|
rs2147066352
|
|
NM_004006.3(DMD):c.5326-9T>A
|
|
|
NM_004006.3(DMD):c.5328C>T (p.Ala1776=)
|
|
|
NM_004006.3(DMD):c.5329T>G (p.Ser1777Ala)
|
rs2097771512
|
|
NM_004006.3(DMD):c.5331C>G (p.Ser1777=)
|
rs2147065939
|
|
NM_004006.3(DMD):c.5331C>T (p.Ser1777=)
|
rs2147065939
|
|
NM_004006.3(DMD):c.5336C>G (p.Pro1779Arg)
|
rs2097771479
|
|
NM_004006.3(DMD):c.5337T>A (p.Pro1779=)
|
|
|
NM_004006.3(DMD):c.5337T>G (p.Pro1779=)
|
|
|
NM_004006.3(DMD):c.5339del (p.Pro1779_Leu1780insTer)
|
|
|
NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)
|
rs886044455
|
|
NM_004006.3(DMD):c.5351A>T (p.Glu1784Val)
|
rs2147065526
|
|
NM_004006.3(DMD):c.5352G>A (p.Glu1784=)
|
rs2147065495
|
|
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)
|
rs398123990
|
|
NM_004006.3(DMD):c.5355G>A (p.Gln1785=)
|
|
|
NM_004006.3(DMD):c.5355G>T (p.Gln1785His)
|
rs2147065441
|
|
NM_004006.3(DMD):c.5358T>C (p.Phe1786=)
|
rs886042125
|
|
NM_004006.3(DMD):c.5358del (p.Phe1786fs)
|
rs1603631368
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5377T>C (p.Leu1793=)
|
rs1603631366
|
|
NM_004006.3(DMD):c.537C>T (p.Asp179=)
|
rs116605349
|
|
NM_004006.3(DMD):c.5381T>G (p.Leu1794Arg)
|
|
|
NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter)
|
rs79541196
|
|
NM_004006.3(DMD):c.5387dup (p.Leu1797fs)
|
rs1603631365
|
|
NM_004006.3(DMD):c.538C>T (p.Leu180=)
|
|
|
NM_004006.3(DMD):c.5391G>A (p.Leu1797=)
|
|
|
NM_004006.3(DMD):c.5397T>C (p.Ala1799=)
|
rs2147064571
|
|
NM_004006.3(DMD):c.5398G>T (p.Glu1800Ter)
|
rs2147064556
|
|
NM_004006.3(DMD):c.5399A>C (p.Glu1800Ala)
|
|
|
NM_004006.3(DMD):c.5404C>T (p.Gln1802Ter)
|
rs1386485242
|
|
NM_004006.3(DMD):c.5409G>T (p.Gln1803His)
|
|
|
NM_004006.3(DMD):c.540A>G (p.Leu180=)
|
|
|
NM_004006.3(DMD):c.5412G>A (p.Gly1804=)
|
rs2147064255
|
|
NM_004006.3(DMD):c.5413G>A (p.Val1805Met)
|
|
|
NM_004006.3(DMD):c.5427G>C (p.Glu1809Asp)
|
rs2097771126
|
|
NM_004006.3(DMD):c.5428G>T (p.Glu1810Ter)
|
|
|
NM_004006.3(DMD):c.5433C>T (p.Asp1811=)
|
|
|
NM_004006.3(DMD):c.5438A>G (p.Asn1813Ser)
|
|
|
NM_004006.3(DMD):c.5444A>G (p.Asp1815Gly)
|
rs2147063753
|
|
NM_004006.3(DMD):c.5446dup (p.Met1816fs)
|
|
|
NM_004006.3(DMD):c.5448+14G>C
|
|
|
NM_004006.3(DMD):c.5448+15A>G
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|
NM_004006.3(DMD):c.5448+18A>G
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|
|
NM_004006.3(DMD):c.5448+19A>T
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|
NM_004006.3(DMD):c.5448+7T>A
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|
|
NM_004006.3(DMD):c.5448+7T>C
|
rs1557294172
|
|
NM_004006.3(DMD):c.5448+8G>T
|
rs1414223055
|
|
NM_004006.3(DMD):c.5448+9G>C
|
|
|
NM_004006.3(DMD):c.5448+9G>T
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|
|
NM_004006.3(DMD):c.5449-12_5449-10del
|
rs745728411
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|
NM_004006.3(DMD):c.5449-13T>C
|
rs758383323
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|
NM_004006.3(DMD):c.5449-18C>T
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|
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NM_004006.3(DMD):c.5449-1G>C
|
rs2147033447
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NM_004006.3(DMD):c.5449-20T>C
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|
|
NM_004006.3(DMD):c.5449-6G>A
|
rs2147033511
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NM_004006.3(DMD):c.5449-6G>T
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|
|
NM_004006.3(DMD):c.5449-7dup
|
rs1557292841
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|
NM_004006.3(DMD):c.5449-8T>C
|
rs2147033589
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|
NM_004006.3(DMD):c.5450A>G (p.Asn1817Ser)
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NM_004006.3(DMD):c.5452G>T (p.Glu1818Ter)
|
rs2097762928
|
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NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs)
|
rs1569559110
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|
NM_004006.3(DMD):c.5460T>A (p.Asn1820Lys)
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|
|
NM_004006.3(DMD):c.5463G>A (p.Glu1821=)
|
rs1026536923
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NM_004006.3(DMD):c.5464G>T (p.Gly1822Cys)
|
rs766746479
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NM_004006.3(DMD):c.5465G>A (p.Gly1822Asp)
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NM_004006.3(DMD):c.5467dup (p.Thr1823fs)
|
rs2147033060
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NM_004006.3(DMD):c.5468C>A (p.Thr1823Asn)
|
rs1465595838
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NM_004006.3(DMD):c.5468C>T (p.Thr1823Ile)
|
rs1465595838
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NM_004006.3(DMD):c.5469T>C (p.Thr1823=)
|
rs2147032964
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NM_004006.3(DMD):c.5471T>C (p.Val1824Ala)
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|
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NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
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NM_004006.3(DMD):c.5477A>C (p.Glu1826Ala)
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NM_004006.3(DMD):c.5479T>C (p.Leu1827=)
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NM_004006.3(DMD):c.547dup (p.Trp183fs)
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rs796065333
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NM_004006.3(DMD):c.5480T>G (p.Leu1827Trp)
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NM_004006.3(DMD):c.5481G>A (p.Leu1827=)
|
rs794727612
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NM_004006.3(DMD):c.5487_5488del (p.Gly1831fs)
|
rs1569559106
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NM_004006.3(DMD):c.548G>A (p.Trp183Ter)
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|
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NM_004006.3(DMD):c.5493A>T (p.Gly1831=)
|
rs1322285225
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NM_004006.3(DMD):c.5499C>T (p.Asn1833=)
|
rs1603631321
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NM_004006.3(DMD):c.54G>T (p.Lys18Asn)
|
rs2093886366
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|
NM_004006.3(DMD):c.5504A>C (p.Gln1835Pro)
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|
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NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)
|
rs770845480
|
|
NM_004006.3(DMD):c.5509_5512del (p.Arg1837fs)
|
rs2147032028
|
|
NM_004006.3(DMD):c.5511A>C (p.Arg1837Ser)
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|
|
NM_004006.3(DMD):c.5512A>G (p.Ile1838Val)
|
rs2147032004
|
|
NM_004006.3(DMD):c.5516C>A (p.Thr1839Lys)
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|
|
NM_004006.3(DMD):c.5516C>G (p.Thr1839Arg)
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|
|
NM_004006.3(DMD):c.5520T>A (p.Asp1840Glu)
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|
|
NM_004006.3(DMD):c.5525G>T (p.Arg1842Ile)
|
rs376011686
|
|
NM_004006.3(DMD):c.5528A>T (p.Lys1843Met)
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|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
NM_004006.3(DMD):c.5535G>A (p.Glu1845=)
|
rs1307920930
|
|
NM_004006.3(DMD):c.5537A>C (p.Glu1846Ala)
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|
|
NM_004006.3(DMD):c.5544G>A (p.Lys1848=)
|
rs369623931
|
|
NM_004006.3(DMD):c.5544_5549del (p.1847IK[1])
|
rs780967715
|
|
NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)
|
rs1557292678
|
|
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)
|
rs128625228
|
|
NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)
|
rs398123991
|
|
NM_004006.3(DMD):c.5557C>T (p.Leu1853=)
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|
|
NM_004006.3(DMD):c.5559G>A (p.Leu1853=)
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|
|
NM_004006.3(DMD):c.5559del (p.Leu1854fs)
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|
|
NM_004006.3(DMD):c.5565G>T (p.Gln1855His)
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|
|
NM_004006.3(DMD):c.5565_5568del (p.Thr1856fs)
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|
|
NM_004006.3(DMD):c.5567del (p.Thr1856fs)
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|
|
NM_004006.3(DMD):c.5568A>C (p.Thr1856=)
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|
|
NM_004006.3(DMD):c.5570A>G (p.Lys1857Arg)
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|
|
NM_004006.3(DMD):c.5570A>T (p.Lys1857Ile)
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|
|
NM_004006.3(DMD):c.5571A>C (p.Lys1857Asn)
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|
|
NM_004006.3(DMD):c.5578G>T (p.Ala1860Ser)
|
|
|
NM_004006.3(DMD):c.5583C>G (p.Leu1861=)
|
|
|
NM_004006.3(DMD):c.5583C>T (p.Leu1861=)
|
rs775837149
|
|
NM_004006.3(DMD):c.5586+13A>C
|
|
|
NM_004006.3(DMD):c.5586+16T>G
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|
|
NM_004006.3(DMD):c.5586+20A>G
|
rs1450070379
|
|
NM_004006.3(DMD):c.5586+8A>G
|
rs2147030103
|
|
NM_004006.3(DMD):c.5587-10C>T
|
|
|
NM_004006.3(DMD):c.5587-12C>T
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|
|
NM_004006.3(DMD):c.5587-13G>T
|
rs374560628
|
|
NM_004006.3(DMD):c.5587-15C>T
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|
|
NM_004006.3(DMD):c.5587-16T>A
|
|
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NM_004006.3(DMD):c.5587-20_5587-18del
|
rs1360421317
|
|
NM_004006.3(DMD):c.5587-5A>C
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|
|
NM_004006.3(DMD):c.5587-6G>T
|
rs2146993001
|
|
NM_004006.3(DMD):c.5587-8A>G
|
rs1287724254
|
|
NM_004006.3(DMD):c.5587-9C>T
|
|
|
NM_004006.3(DMD):c.558G>A (p.Val186=)
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|
|
NM_004006.3(DMD):c.5592G>T (p.Leu1864Phe)
|
rs2146992885
|
|
NM_004006.3(DMD):c.5593A>G (p.Arg1865Gly)
|
|
|
NM_004006.3(DMD):c.5594G>A (p.Arg1865Lys)
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|
|
NM_004006.3(DMD):c.5595del (p.Arg1865fs)
|
rs1557291242
|
|
NM_004006.3(DMD):c.559G>C (p.Val187Leu)
|
|
|
NM_004006.3(DMD):c.5600_5602del (p.Gln1867del)
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|
|
NM_004006.3(DMD):c.5602A>T (p.Arg1868Ter)
|
rs1557291229
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
NM_004006.3(DMD):c.5605A>C (p.Arg1869=)
|
rs2146992518
|
|
NM_004006.3(DMD):c.5608A>G (p.Lys1870Glu)
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|
|
NM_004006.3(DMD):c.5612A>T (p.Lys1871Met)
|
rs2097753511
|
|
NM_004006.3(DMD):c.5612dup (p.Ala1872fs)
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|
|
NM_004006.3(DMD):c.5613G>A (p.Lys1871=)
|
rs759824486
|
|
NM_004006.3(DMD):c.5613_5640del (p.Lys1871fs)
|
rs1557291170
|
|
NM_004006.3(DMD):c.5615C>T (p.Ala1872Val)
|
rs200246327
|
|
NM_004006.3(DMD):c.5617C>T (p.Leu1873=)
|
rs769637913
|
|
NM_004006.3(DMD):c.5619A>G (p.Leu1873=)
|
rs1603631246
|
|
NM_004006.3(DMD):c.5625T>C (p.Ile1875=)
|
|
|
NM_004006.3(DMD):c.5630A>T (p.His1877Leu)
|
|
|
NM_004006.3(DMD):c.563G>T (p.Cys188Phe)
|
rs2148751620
|
|
NM_004006.3(DMD):c.5643G>A (p.Gln1881=)
|
rs2146991812
|
|
NM_004006.3(DMD):c.5646C>A (p.Tyr1882Ter)
|
rs2097753394
|
|
NM_004006.3(DMD):c.5646C>T (p.Tyr1882=)
|
|
|
NM_004006.3(DMD):c.5647A>T (p.Lys1883Ter)
|
rs1060502623
|
|
NM_004006.3(DMD):c.5648A>G (p.Lys1883Arg)
|
|
|
NM_004006.3(DMD):c.5649del (p.Arg1884fs)
|
rs2146991715
|
|
NM_004006.3(DMD):c.564C>T (p.Cys188=)
|
|
|
NM_004006.3(DMD):c.5650A>G (p.Arg1884Gly)
|
rs1557291149
|
|
NM_004006.3(DMD):c.5653C>A (p.Gln1885Lys)
|
rs1295935628
|
|
NM_004006.3(DMD):c.565C>A (p.Gln189Lys)
|
|
|
NM_004006.3(DMD):c.5660A>G (p.Asp1887Gly)
|
rs1239878805
|
|
NM_004006.3(DMD):c.5661T>C (p.Asp1887=)
|
|
|
NM_004006.3(DMD):c.5663A>G (p.Asp1888Gly)
|
|
|
NM_004006.3(DMD):c.5667C>G (p.Leu1889=)
|
|
|
NM_004006.3(DMD):c.5667C>T (p.Leu1889=)
|
rs2146991307
|
|
NM_004006.3(DMD):c.5680G>A (p.Asp1894Asn)
|
|
|
NM_004006.3(DMD):c.5680G>C (p.Asp1894His)
|
rs1288134740
|
|
NM_004006.3(DMD):c.5681A>T (p.Asp1894Val)
|
|
|
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly)
|
rs376202643
|
|
NM_004006.3(DMD):c.5688T>C (p.Ile1896=)
|
rs1557291068
|
|
NM_004006.3(DMD):c.568C>G (p.Gln190Glu)
|
|
|
NM_004006.3(DMD):c.568C>T (p.Gln190Ter)
|
rs2148751523
|
|
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg)
|
rs794727662
|
|
NM_004006.3(DMD):c.5697A>G (p.Lys1899=)
|
rs2097753067
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5699T>A (p.Leu1900Ter)
|
rs1057518866
|
|
NM_004006.3(DMD):c.5704_5707del (p.Ser1902fs)
|
rs2097752909
|
|
NM_004006.3(DMD):c.5709A>T (p.Leu1903=)
|
rs2146990296
|
|
NM_004006.3(DMD):c.5711C>G (p.Pro1904Arg)
|
|
|
NM_004006.3(DMD):c.5712T>G (p.Pro1904=)
|
|
|
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)
|
rs1569558953
|
|
NM_004006.3(DMD):c.572C>T (p.Ser191Leu)
|
|
|
NM_004006.3(DMD):c.5733A>G (p.Lys1911=)
|
|
|
NM_004006.3(DMD):c.5735T>C (p.Ile1912Thr)
|
rs376375532
|
|
NM_004006.3(DMD):c.5736A>T (p.Ile1912=)
|
rs2146989560
|
|
NM_004006.3(DMD):c.5738_5739+4del
|
rs2146989498
|
|
NM_004006.3(DMD):c.5739+18T>A
|
rs2146989246
|
|
NM_004006.3(DMD):c.5739+20T>C
|
|
|
NM_004006.3(DMD):c.5739+6G>A
|
|
|
NM_004006.3(DMD):c.5739+9_5739+11del
|
|
|
NM_004006.3(DMD):c.5740-10T>A
|
rs2148813751
|
|
NM_004006.3(DMD):c.5740-12T>C
|
|
|
NM_004006.3(DMD):c.5740-14G>A
|
|
|
NM_004006.3(DMD):c.5740-15G>T
|
rs2148813786
|
|
NM_004006.3(DMD):c.5740-16T>A
|
|
|
NM_004006.3(DMD):c.5740-17T>C
|
|
|
NM_004006.3(DMD):c.5740-1G>T
|
rs2148813707
|
|
NM_004006.3(DMD):c.5740-20G>A
|
|
|
NM_004006.3(DMD):c.5740-20G>C
|
|
|
NM_004006.3(DMD):c.5740-8C>T
|
|
|
NM_004006.3(DMD):c.5749C>A (p.Arg1917=)
|
|
|
NM_004006.3(DMD):c.5749C>G (p.Arg1917Gly)
|
|
|
NM_004006.3(DMD):c.574_577del (p.Ala192fs)
|
rs2148751467
|
|
NM_004006.3(DMD):c.5750G>C (p.Arg1917Pro)
|
rs760528813
|
|
NM_004006.3(DMD):c.5750G>T (p.Arg1917Leu)
|
|
|
NM_004006.3(DMD):c.5752G>A (p.Glu1918Lys)
|
|
|
NM_004006.3(DMD):c.5754A>G (p.Glu1918=)
|
rs2148813606
|
|
NM_004006.3(DMD):c.5755T>C (p.Leu1919=)
|
|
|
NM_004006.3(DMD):c.5757G>T (p.Leu1919Phe)
|
rs2148813593
|
|
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)
|
rs1057520764
|
|
NM_004006.3(DMD):c.5760GAA[2] (p.Lys1923del)
|
|
|
NM_004006.3(DMD):c.5763G>A (p.Lys1921=)
|
rs2148813540
|
|
NM_004006.3(DMD):c.5765A>G (p.Lys1922Arg)
|
|
|
NM_004006.3(DMD):c.5771_5772del (p.Glu1924fs)
|
|
|
NM_004006.3(DMD):c.5772G>A (p.Glu1924=)
|
|
|
NM_004006.3(DMD):c.5772G>T (p.Glu1924Asp)
|
|
|
NM_004006.3(DMD):c.5773dup (p.Glu1925fs)
|
|
|
NM_004006.3(DMD):c.5775G>A (p.Glu1925=)
|
rs1800272
|
|
NM_004006.3(DMD):c.5775G>T (p.Glu1925Asp)
|
rs1800272
|
|
NM_004006.3(DMD):c.5779A>C (p.Asn1927His)
|
rs2097747500
|
|
NM_004006.3(DMD):c.5781T>C (p.Asn1927=)
|
rs2148813420
|
|
NM_004006.3(DMD):c.5784A>T (p.Ala1928=)
|
|
|
NM_004006.3(DMD):c.5789G>T (p.Arg1930Leu)
|
|
|
NM_004006.3(DMD):c.5791A>T (p.Arg1931Trp)
|
|
|
NM_004006.3(DMD):c.579A>G (p.Thr193=)
|
rs766344083
|
|
NM_004006.3(DMD):c.579A>T (p.Thr193=)
|
rs766344083
|
|
NM_004006.3(DMD):c.57A>G (p.Lys19=)
|
|
|
NM_004006.3(DMD):c.5801A>T (p.Glu1934Val)
|
rs878854620
|
|
NM_004006.3(DMD):c.5814G>A (p.Glu1938=)
|
rs2148813225
|
|
NM_004006.3(DMD):c.5826A>C (p.Ala1942=)
|
rs1569558909
|
|
NM_004006.3(DMD):c.5827A>T (p.Met1943Leu)
|
rs181849614
|
|
NM_004006.3(DMD):c.582A>G (p.Gln194=)
|
rs1603432096
|
|
NM_004006.3(DMD):c.5832A>G (p.Ala1944=)
|
rs2148813072
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5842A>G (p.Thr1948Ala)
|
|
|
NM_004006.3(DMD):c.5843C>T (p.Thr1948Ile)
|
|
|
NM_004006.3(DMD):c.5850C>A (p.Ile1950=)
|
|
|
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)
|
rs773643220
|
|
NM_004006.3(DMD):c.5857A>G (p.Ser1953Gly)
|
rs2148812933
|
|
NM_004006.3(DMD):c.5858G>A (p.Ser1953Asn)
|
rs1430944728
|
|
NM_004006.3(DMD):c.5858G>C (p.Ser1953Thr)
|
rs1430944728
|
|
NM_004006.3(DMD):c.5861A>G (p.Lys1954Arg)
|
rs2148812890
|
|
NM_004006.3(DMD):c.5862G>A (p.Lys1954=)
|
|
|
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.5869C>A (p.Arg1957=)
|
|
|
NM_004006.3(DMD):c.5870G>A (p.Arg1957Gln)
|
|
|
NM_004006.3(DMD):c.5878G>T (p.Glu1960Ter)
|
rs2148812748
|
|
NM_004006.3(DMD):c.5880G>A (p.Glu1960=)
|
|
|
NM_004006.3(DMD):c.5884_5891del (p.Lys1962fs)
|
rs1060502646
|
|
NM_004006.3(DMD):c.5888T>C (p.Phe1963Ser)
|
|
|
NM_004006.3(DMD):c.5894A>G (p.Gln1965Arg)
|
rs2148812632
|
|
NM_004006.3(DMD):c.5901A>G (p.Arg1967=)
|
|
|
NM_004006.3(DMD):c.5904A>G (p.Arg1968=)
|
|
|
NM_004006.3(DMD):c.5906T>C (p.Leu1969Pro)
|
|
|
NM_004006.3(DMD):c.5907C>A (p.Leu1969=)
|
|
|
NM_004006.3(DMD):c.5908A>G (p.Asn1970Asp)
|
|
|
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser)
|
rs951731570
|
|
NM_004006.3(DMD):c.5911T>C (p.Phe1971Leu)
|
rs2148812491
|
|
NM_004006.3(DMD):c.5913T>G (p.Phe1971Leu)
|
|
|
NM_004006.3(DMD):c.5914G>T (p.Ala1972Ser)
|
rs1351121628
|
|
NM_004006.3(DMD):c.5916A>C (p.Ala1972=)
|
|
|
NM_004006.3(DMD):c.5916A>G (p.Ala1972=)
|
rs2148812449
|
|
NM_004006.3(DMD):c.5917C>G (p.Gln1973Glu)
|
rs863225005
|
|
NM_004006.3(DMD):c.5919A>C (p.Gln1973His)
|
|
|
NM_004006.3(DMD):c.591A>G (p.Glu197=)
|
rs2148751296
|
|
NM_004006.3(DMD):c.5922+11A>T
|
|
|
NM_004006.3(DMD):c.5922+15G>T
|
|
|
NM_004006.3(DMD):c.5922+16C>G
|
|
|
NM_004006.3(DMD):c.5922+19A>C
|
|
|
NM_004006.3(DMD):c.5922+19A>T
|
rs2148812274
|
|
NM_004006.3(DMD):c.5922+1G>T
|
rs1603631219
|
|
NM_004006.3(DMD):c.5922+20C>T
|
rs1201169887
|
|
NM_004006.3(DMD):c.5922+3G>C
|
rs398124000
|
|
NM_004006.3(DMD):c.5922+5G>A
|
rs1603631217
|
|
NM_004006.3(DMD):c.5922+5G>T
|
rs1603631217
|
|
NM_004006.3(DMD):c.5923-15G>A
|
|
|
NM_004006.3(DMD):c.5923-18T>G
|
|
|
NM_004006.3(DMD):c.5923-20C>A
|
|
|
NM_004006.3(DMD):c.5923-4C>T
|
|
|
NM_004006.3(DMD):c.5923-5A>G
|
|
|
NM_004006.3(DMD):c.5923-8T>C
|
rs2148596590
|
|
NM_004006.3(DMD):c.5923-9C>G
|
|
|
NM_004006.3(DMD):c.5928T>A (p.Thr1976=)
|
|
|
NM_004006.3(DMD):c.5929G>C (p.Val1977Leu)
|
rs1314263909
|
|
NM_004006.3(DMD):c.5932C>G (p.Arg1978Gly)
|
rs2097557042
|
|
NM_004006.3(DMD):c.5932C>T (p.Arg1978Cys)
|
rs2097557042
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
NM_004006.3(DMD):c.5941A>G (p.Thr1981Ala)
|
rs2097557010
|
|
NM_004006.3(DMD):c.5942C>G (p.Thr1981Arg)
|
rs140575687
|
|
NM_004006.3(DMD):c.5943G>T (p.Thr1981=)
|
rs757497844
|
|
NM_004006.3(DMD):c.594T>C (p.His198=)
|
|
|
NM_004006.3(DMD):c.5950G>A (p.Val1984Met)
|
|
|
NM_004006.3(DMD):c.5953A>G (p.Met1985Val)
|
|
|
NM_004006.3(DMD):c.5953del (p.Val1984_Met1985insTer)
|
rs2148596228
|
|
NM_004006.3(DMD):c.595G>C (p.Ala199Pro)
|
rs1060502660
|
|
NM_004006.3(DMD):c.596C>A (p.Ala199Glu)
|
rs1557047884
|
|
NM_004006.3(DMD):c.5972T>G (p.Leu1991Trp)
|
|
|
NM_004006.3(DMD):c.5973G>A (p.Leu1991=)
|
|
|
NM_004006.3(DMD):c.5977A>G (p.Ile1993Val)
|
|
|
NM_004006.3(DMD):c.5977A>T (p.Ile1993Phe)
|
rs1187189771
|
|
NM_004006.3(DMD):c.5983T>G (p.Tyr1995Asp)
|
rs751445942
|
|
NM_004006.3(DMD):c.5991T>G (p.Pro1997=)
|
rs1005302771
|
|
NM_004006.3(DMD):c.5999A>T (p.Tyr2000Phe)
|
rs1603630432
|
|
NM_004006.3(DMD):c.6006T>G (p.Thr2002=)
|
|
|
NM_004006.3(DMD):c.6012C>A (p.Ile2004=)
|
rs2148595676
|
|
NM_004006.3(DMD):c.6014C>G (p.Thr2005Ser)
|
|
|
NM_004006.3(DMD):c.6014_6017del (p.Thr2005fs)
|
rs398124003
|
|
NM_004006.3(DMD):c.6017A>C (p.His2006Pro)
|
rs2148595619
|
|
NM_004006.3(DMD):c.6017A>G (p.His2006Arg)
|
|
|
NM_004006.3(DMD):c.6018T>C (p.His2006=)
|
rs2148595575
|
|
NM_004006.3(DMD):c.6021dup (p.Ser2008fs)
|
|
|
NM_004006.3(DMD):c.6025C>A (p.Gln2009Lys)
|
rs1569556943
|
|
NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter)
|
rs1569556943
|
|
NM_004006.3(DMD):c.6030C>A (p.Ala2010=)
|
|
|
NM_004006.3(DMD):c.6031del (p.Leu2011fs)
|
|
|
NM_004006.3(DMD):c.6033A>C (p.Leu2011=)
|
|
|
NM_004006.3(DMD):c.6036A>G (p.Leu2012=)
|
|
|
NM_004006.3(DMD):c.6040dup (p.Val2014fs)
|
|
|
NM_004006.3(DMD):c.6042G>A (p.Val2014=)
|
|
|
NM_004006.3(DMD):c.6046C>T (p.Gln2016Ter)
|
|
|
NM_004006.3(DMD):c.6058G>T (p.Ala2020Ser)
|
rs765460659
|
|
NM_004006.3(DMD):c.6067C>A (p.Leu2023Ile)
|
rs869312948
|
|
NM_004006.3(DMD):c.6067C>G (p.Leu2023Val)
|
rs869312948
|
|
NM_004006.3(DMD):c.6067C>T (p.Leu2023Phe)
|
rs869312948
|
|
NM_004006.3(DMD):c.6075T>C (p.Ala2025=)
|
|
|
NM_004006.3(DMD):c.6075dup (p.Lys2026Ter)
|
|
|
NM_004006.3(DMD):c.6079G>A (p.Asp2027Asn)
|
rs2148595093
|
|
NM_004006.3(DMD):c.6079G>C (p.Asp2027His)
|
rs2148595093
|
|
NM_004006.3(DMD):c.607_616del (p.Ala203fs)
|
rs2148750934
|
|
NM_004006.3(DMD):c.6081C>T (p.Asp2027=)
|
|
|
NM_004006.3(DMD):c.6082T>G (p.Phe2028Val)
|
rs2097556386
|
|
NM_004006.3(DMD):c.608C>G (p.Ala203Gly)
|
rs2148751075
|
|
NM_004006.3(DMD):c.6091C>G (p.Leu2031Val)
|
|
|
NM_004006.3(DMD):c.6099_6100delinsTT (p.Lys2033_Gln2034delinsAsnTer)
|
|
|
NM_004006.3(DMD):c.6105G>A (p.Glu2035=)
|
|
|
NM_004006.3(DMD):c.610A>C (p.Arg204=)
|
rs2148751035
|
|
NM_004006.3(DMD):c.6117+10A>G
|
rs2148594683
|
|
NM_004006.3(DMD):c.6117+11A>C
|
|
|
NM_004006.3(DMD):c.6117+12G>A
|
|
|
NM_004006.3(DMD):c.6117+13C>T
|
|
|
NM_004006.3(DMD):c.6117+18T>C
|
|
|
NM_004006.3(DMD):c.6117+18T>G
|
|
|
NM_004006.3(DMD):c.6117+19C>A
|
|
|
NM_004006.3(DMD):c.6117+19C>T
|
|
|
NM_004006.3(DMD):c.6117+20A>C
|
|
|
NM_004006.3(DMD):c.6117+20A>G
|
|
|
NM_004006.3(DMD):c.6117+6A>G
|
rs2148594756
|
|
NM_004006.3(DMD):c.6117+8C>G
|
|
|
NM_004006.3(DMD):c.6117+8C>T
|
rs2148594726
|
|
NM_004006.3(DMD):c.6117+9A>G
|
|
|
NM_004006.3(DMD):c.6118-14T>A
|
|
|
NM_004006.3(DMD):c.6118-18A>T
|
|
|
NM_004006.3(DMD):c.6118-1G>A
|
rs1060502656
|
|
NM_004006.3(DMD):c.6118-1G>C
|
rs1060502656
|
|
NM_004006.3(DMD):c.6118-4A>G
|
rs1057522959
|
|
NM_004006.3(DMD):c.6118-75AT[8]
|
rs3842480
|
|
NM_004006.3(DMD):c.6118-9A>G
|
rs767111504
|
|
NM_004006.3(DMD):c.6120T>C (p.Asn2040=)
|
|
|
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)
|
rs863225006
|
|
NM_004006.3(DMD):c.612A>G (p.Arg204=)
|
rs2077190196
|
|
NM_004006.3(DMD):c.612A>T (p.Arg204Ser)
|
rs2077190196
|
|
NM_004006.3(DMD):c.6136C>T (p.Gln2046Ter)
|
rs2148457829
|
|
NM_004006.3(DMD):c.6146C>G (p.Ser2049Ter)
|
rs878911532
|
|
NM_004006.3(DMD):c.6147A>G (p.Ser2049=)
|
|
|
NM_004006.3(DMD):c.6153G>C (p.Arg2051=)
|
|
|
NM_004006.3(DMD):c.6154del (p.Ile2052fs)
|
|
|
NM_004006.3(DMD):c.6155T>C (p.Ile2052Thr)
|
|
|
NM_004006.3(DMD):c.6159C>T (p.Asp2053=)
|
rs1603629986
|
|
NM_004006.3(DMD):c.615T>C (p.Tyr205=)
|
|
|
NM_004006.3(DMD):c.615T>G (p.Tyr205Ter)
|
|
|
NM_004006.3(DMD):c.6162T>C (p.Ile2054=)
|
rs2148457585
|
|
NM_004006.3(DMD):c.6165T>C (p.Ile2055=)
|
rs2148457534
|
|
NM_004006.3(DMD):c.6167A>C (p.His2056Pro)
|
|
|
NM_004006.3(DMD):c.616C>T (p.Gln206Ter)
|
rs1603432076
|
|
NM_004006.3(DMD):c.6174G>A (p.Lys2058=)
|
rs2148457449
|
|
NM_004006.3(DMD):c.6179C>T (p.Thr2060Ile)
|
rs794729000
|
|
NM_004006.3(DMD):c.6181G>A (p.Ala2061Thr)
|
|
|
NM_004006.3(DMD):c.6183A>G (p.Ala2061=)
|
rs2148457337
|
|
NM_004006.3(DMD):c.6187T>C (p.Leu2063=)
|
|
|
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser)
|
rs1468473458
|
|
NM_004006.3(DMD):c.6197C>T (p.Ala2066Val)
|
|
|
NM_004006.3(DMD):c.619T>C (p.Leu207=)
|
|
|
NM_004006.3(DMD):c.6202C>A (p.Pro2068Thr)
|
rs759958716
|
|
NM_004006.3(DMD):c.6202C>T (p.Pro2068Ser)
|
|
|
NM_004006.3(DMD):c.6203del (p.Pro2068fs)
|
rs2097447725
|
|
NM_004006.3(DMD):c.6205del (p.Val2069fs)
|
rs1060502640
|
|
NM_004006.3(DMD):c.620T>A (p.Leu207Ter)
|
|
|
NM_004006.3(DMD):c.6212G>C (p.Arg2071Thr)
|
rs774825173
|
|
NM_004006.3(DMD):c.6213G>A (p.Arg2071=)
|
|
|
NM_004006.3(DMD):c.6213_6219del (p.Arg2071fs)
|
rs2148457026
|
|
NM_004006.3(DMD):c.6222A>G (p.Leu2074=)
|
rs2148457008
|
|
NM_004006.3(DMD):c.6226G>T (p.Glu2076Ter)
|
rs398124007
|
|
NM_004006.3(DMD):c.6238C>G (p.Gln2080Glu)
|
rs1340785309
|
|
NM_004006.3(DMD):c.6238C>T (p.Gln2080Ter)
|
rs1340785309
|
|
NM_004006.3(DMD):c.6240G>T (p.Gln2080His)
|
rs1557263852
|
|
NM_004006.3(DMD):c.624C>A (p.Gly208=)
|
rs768761464
|
|
NM_004006.3(DMD):c.624C>G (p.Gly208=)
|
|
|
NM_004006.3(DMD):c.624C>T (p.Gly208=)
|
|
|
NM_004006.3(DMD):c.6250C>T (p.Gln2084Ter)
|
rs2148456727
|
|
NM_004006.3(DMD):c.6252A>G (p.Gln2084=)
|
|
|
NM_004006.3(DMD):c.6254G>A (p.Trp2085Ter)
|
rs2148456690
|
|
NM_004006.3(DMD):c.6259A>G (p.Lys2087Glu)
|
rs2148456625
|
|
NM_004006.3(DMD):c.6259A>T (p.Lys2087Ter)
|
rs2148456625
|
|
NM_004006.3(DMD):c.6276C>T (p.Tyr2092=)
|
|
|
NM_004006.3(DMD):c.627del (p.Ile209fs)
|
rs794727862
|
|
NM_004006.3(DMD):c.6280G>A (p.Asp2094Asn)
|
|
|
NM_004006.3(DMD):c.6283C>A (p.Arg2095=)
|
rs398124008
|
|
NM_004006.3(DMD):c.6290+12A>T
|
|
|
NM_004006.3(DMD):c.6290+13T>C
|
|
|
NM_004006.3(DMD):c.6290+16A>G
|
|
|
NM_004006.3(DMD):c.6290+2T>A
|
rs2097447247
|
|
NM_004006.3(DMD):c.6290+3A>G
|
|
|
NM_004006.3(DMD):c.6290+5G>A
|
rs886043467
|
|
NM_004006.3(DMD):c.6290+7A>C
|
|
|
NM_004006.3(DMD):c.6290+9C>T
|
rs2148456262
|
|
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
|
|
|
NM_004006.3(DMD):c.6291-10T>C
|
rs758023750
|
|
NM_004006.3(DMD):c.6291-13C>T
|
rs2147866521
|
|
NM_004006.3(DMD):c.6291-14G>A
|
|
|
NM_004006.3(DMD):c.6291-18A>G
|
|
|
NM_004006.3(DMD):c.6291-20C>A
|
|
|
NM_004006.3(DMD):c.6291-20C>T
|
|
|
NM_004006.3(DMD):c.6291-4G>T
|
rs2147866438
|
|
NM_004006.3(DMD):c.6291-9T>C
|
|
|
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)
|
rs128626250
|
|
NM_004006.3(DMD):c.6293G>A (p.Arg2098Gln)
|
|
|
NM_004006.3(DMD):c.6294A>G (p.Arg2098=)
|
|
|
NM_004006.3(DMD):c.6295T>G (p.Phe2099Val)
|
|
|
NM_004006.3(DMD):c.6296T>C (p.Phe2099Ser)
|
rs1229763776
|
|
NM_004006.3(DMD):c.6297T>C (p.Phe2099=)
|
rs2147866269
|
|
NM_004006.3(DMD):c.6305C>G (p.Ser2102Cys)
|
rs2097114904
|
|
NM_004006.3(DMD):c.630G>C (p.Glu210Asp)
|
|
|
NM_004006.3(DMD):c.6319C>A (p.Arg2107=)
|
rs770711808
|
|
NM_004006.3(DMD):c.6324T>A (p.Arg2108=)
|
|
|
NM_004006.3(DMD):c.6329A>G (p.His2110Arg)
|
rs2097114804
|
|
NM_004006.3(DMD):c.6333T>C (p.Tyr2111=)
|
rs2097114793
|
|
NM_004006.3(DMD):c.6336T>C (p.Asp2112=)
|
rs2097114770
|
|
NM_004006.3(DMD):c.6337A>G (p.Ile2113Val)
|
|
|
NM_004006.3(DMD):c.6345A>G (p.Ile2115Met)
|
|
|
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)
|
rs1603628483
|
|
NM_004006.3(DMD):c.6367G>C (p.Ala2123Pro)
|
rs2147865559
|
|
NM_004006.3(DMD):c.6368C>T (p.Ala2123Val)
|
|
|
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)
|
rs128626251
|
|
NM_004006.3(DMD):c.6375G>T (p.Gln2125His)
|
rs766781970
|
|
NM_004006.3(DMD):c.6377_6378del (p.Phe2126fs)
|
rs2147865476
|
|
NM_004006.3(DMD):c.6380T>G (p.Leu2127Arg)
|
|
|
NM_004006.3(DMD):c.6389C>T (p.Thr2130Ile)
|
|
|
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.6398C>A (p.Pro2133His)
|
rs2097114550
|
|
NM_004006.3(DMD):c.6404del (p.Asn2135fs)
|
|
|
NM_004006.3(DMD):c.6405T>C (p.Asn2135=)
|
rs2147865207
|
|
NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter)
|
rs1557218131
|
|
NM_004006.3(DMD):c.6411A>G (p.Glu2137=)
|
|
|
NM_004006.3(DMD):c.6421del (p.Tyr2141fs)
|
|
|
NM_004006.3(DMD):c.6423C>G (p.Tyr2141Ter)
|
rs1425702864
|
|
NM_004006.3(DMD):c.6423C>T (p.Tyr2141=)
|
|
|
NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer)
|
rs1557218093
|
|
NM_004006.3(DMD):c.6424A>T (p.Lys2142Ter)
|
rs1557218076
|
|
NM_004006.3(DMD):c.6433C>A (p.Leu2145Ile)
|
|
|
NM_004006.3(DMD):c.6438+15T>C
|
rs2097114348
|
|
NM_004006.3(DMD):c.6438+16G>T
|
|
|
NM_004006.3(DMD):c.6438+17T>C
|
|
|
NM_004006.3(DMD):c.6438+9_6438+10del
|
|
|
NM_004006.3(DMD):c.6439-12G>A
|
|
|
NM_004006.3(DMD):c.6439-13T>G
|
rs2150188308
|
|
NM_004006.3(DMD):c.6439-19C>A
|
|
|
NM_004006.3(DMD):c.6439-5T>C
|
rs1262558848
|
|
NM_004006.3(DMD):c.6439-9A>G
|
|
|
NM_004006.3(DMD):c.6439G>A (p.Glu2147Lys)
|
|
|
NM_004006.3(DMD):c.6450T>C (p.Asp2150=)
|
rs981577721
|
|
NM_004006.3(DMD):c.6453C>T (p.Gly2151=)
|
|
|
NM_004006.3(DMD):c.6454A>T (p.Ile2152Phe)
|
|
|
NM_004006.3(DMD):c.6468A>G (p.Gln2156=)
|
|
|
NM_004006.3(DMD):c.646G>T (p.Glu216Ter)
|
rs2148750599
|
|
NM_004006.3(DMD):c.6471T>C (p.Thr2157=)
|
|
|
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup)
|
rs1395996899
|
|
NM_004006.3(DMD):c.6472G>A (p.Val2158Ile)
|
rs2150187984
|
|
NM_004006.3(DMD):c.6474del (p.Val2159fs)
|
rs2095370524
|
|
NM_004006.3(DMD):c.6481_6482inv (p.Thr2161Val)
|
|
|
NM_004006.3(DMD):c.6483A>C (p.Thr2161=)
|
rs776054222
|
|
NM_004006.3(DMD):c.6483A>T (p.Thr2161=)
|
|
|
NM_004006.3(DMD):c.6486G>A (p.Leu2162=)
|
rs2150187894
|
|
NM_004006.3(DMD):c.6488A>G (p.Asn2163Ser)
|
|
|
NM_004006.3(DMD):c.6489T>A (p.Asn2163Lys)
|
rs1057523928
|
|
NM_004006.3(DMD):c.649+13C>T
|
|
|
NM_004006.3(DMD):c.649+20A>G
|
|
|
NM_004006.3(DMD):c.649+4G>A
|
rs2077187609
|
|
NM_004006.3(DMD):c.649+5G>A
|
rs1557047808
|
|
NM_004006.3(DMD):c.649+7A>C
|
|
|
NM_004006.3(DMD):c.6492A>C (p.Ala2164=)
|
rs2095370368
|
|
NM_004006.3(DMD):c.6495T>G (p.Thr2165=)
|
rs2150187797
|
|
NM_004006.3(DMD):c.6496G>A (p.Gly2166Arg)
|
rs2095370321
|
|
NM_004006.3(DMD):c.649G>T (p.Asp217Tyr)
|
|
|
NM_004006.3(DMD):c.650-1827_771del
|
|
|
NM_004006.3(DMD):c.650-19A>G
|
|
|
NM_004006.3(DMD):c.650-1G>A
|
rs2063903818
|
|
NM_004006.3(DMD):c.650-1G>T
|
rs2063903818
|
|
NM_004006.3(DMD):c.650-1_650delinsTT
|
|
|
NM_004006.3(DMD):c.650-39498A>G
|
rs1556980528
|
|
NM_004006.3(DMD):c.650-5T>C
|
|
|
NM_004006.3(DMD):c.650-7C>A
|
|
|
NM_004006.3(DMD):c.650-9T>C
|
|
|
NM_004006.3(DMD):c.6502G>C (p.Glu2168Gln)
|
|
|
NM_004006.3(DMD):c.6505A>G (p.Ile2169Val)
|
rs2095370242
|
|
NM_004006.3(DMD):c.6510T>A (p.Ile2170=)
|
rs2150187685
|
|
NM_004006.3(DMD):c.651T>C (p.Asp217=)
|
rs1556930849
|
|
NM_004006.3(DMD):c.6521C>T (p.Ser2174Leu)
|
rs2095370109
|
|
NM_004006.3(DMD):c.6522A>C (p.Ser2174=)
|
rs2150187583
|
|
NM_004006.3(DMD):c.6522A>G (p.Ser2174=)
|
|
|
NM_004006.3(DMD):c.6528del (p.Asp2177fs)
|
rs2150187539
|
|
NM_004006.3(DMD):c.6535A>G (p.Ser2179Gly)
|
rs1361261157
|
|
NM_004006.3(DMD):c.6536G>A (p.Ser2179Asn)
|
|
|
NM_004006.3(DMD):c.6541C>T (p.Leu2181=)
|
|
|
NM_004006.3(DMD):c.6543A>G (p.Leu2181=)
|
|
|
NM_004006.3(DMD):c.6552A>G (p.Lys2184=)
|
rs1603618491
|
|
NM_004006.3(DMD):c.6557G>A (p.Gly2186Glu)
|
rs2095369768
|
|
NM_004006.3(DMD):c.656A>T (p.Asp219Val)
|
rs2147607407
|
|
NM_004006.3(DMD):c.656dup (p.Asp219fs)
|
rs1556930839
|
|
NM_004006.3(DMD):c.6573G>A (p.Arg2191=)
|
rs2150187210
|
|
NM_004006.3(DMD):c.6574T>G (p.Trp2192Gly)
|
|
|
NM_004006.3(DMD):c.6576G>T (p.Trp2192Cys)
|
|
|
NM_004006.3(DMD):c.6578del (p.Gln2193fs)
|
|
|
NM_004006.3(DMD):c.6579G>A (p.Gln2193=)
|
|
|
NM_004006.3(DMD):c.657T>C (p.Asp219=)
|
|
|
NM_004006.3(DMD):c.6586T>C (p.Cys2196Arg)
|
rs794727677
|
|
NM_004006.3(DMD):c.6592C>T (p.Gln2198Ter)
|
rs2150187018
|
|
NM_004006.3(DMD):c.6600A>C (p.Ser2200=)
|
rs1039612595
|
|
NM_004006.3(DMD):c.6600A>G (p.Ser2200=)
|
rs1039612595
|
|
NM_004006.3(DMD):c.6606A>G (p.Arg2202=)
|
|
|
NM_004006.3(DMD):c.660C>T (p.Thr220=)
|
rs2147607269
|
|
NM_004006.3(DMD):c.6611del (p.Lys2204fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
|
|
|
NM_004006.3(DMD):c.6614+12G>C
|
|
|
NM_004006.3(DMD):c.6614+15C>T
|
|
|
NM_004006.3(DMD):c.6614+18A>G
|
|
|
NM_004006.3(DMD):c.6614+1G>A
|
|
|
NM_004006.3(DMD):c.6614+20A>G
|
|
|
NM_004006.3(DMD):c.6614+2T>C
|
rs1060502641
|
|
NM_004006.3(DMD):c.6614+3310G>T
|
rs797045526
|
|
NM_004006.3(DMD):c.6614+7C>A
|
rs180719577
|
|
NM_004006.3(DMD):c.6614G>T (p.Arg2205Met)
|
rs1603618489
|
|
NM_004006.3(DMD):c.6615-10_6615-8del
|
|
|
NM_004006.3(DMD):c.6615-13C>T
|
|
|
NM_004006.3(DMD):c.6615-1G>A
|
|
|
NM_004006.3(DMD):c.6615-2A>T
|
rs1557011973
|
|
NM_004006.3(DMD):c.6615-4C>G
|
|
|
NM_004006.3(DMD):c.6615-4C>T
|
rs1603615892
|
|
NM_004006.3(DMD):c.6615-5T>C
|
|
|
NM_004006.3(DMD):c.6620A>G (p.Glu2207Gly)
|
|
|
NM_004006.3(DMD):c.6620A>T (p.Glu2207Val)
|
|
|
NM_004006.3(DMD):c.6622G>T (p.Glu2208Ter)
|
rs2094864356
|
|
NM_004006.3(DMD):c.6629del (p.Lys2210fs)
|
rs2094864231
|
|
NM_004006.3(DMD):c.6634A>G (p.Ile2212Val)
|
|
|
NM_004006.3(DMD):c.6636C>A (p.Ile2212=)
|
|
|
NM_004006.3(DMD):c.6637T>C (p.Leu2213=)
|
rs1603615889
|
|
NM_004006.3(DMD):c.6637T>G (p.Leu2213Val)
|
|
|
NM_004006.3(DMD):c.663C>T (p.Thr221=)
|
rs2147607182
|
|
NM_004006.3(DMD):c.6640T>G (p.Ser2214Ala)
|
|
|
NM_004006.3(DMD):c.6642A>G (p.Ser2214=)
|
rs2150002033
|
|
NM_004006.3(DMD):c.6648T>C (p.Phe2216=)
|
rs2150002016
|
|
NM_004006.3(DMD):c.6652dup (p.Arg2218fs)
|
|
|
NM_004006.3(DMD):c.6660A>G (p.Leu2220=)
|
rs1603615887
|
|
NM_004006.3(DMD):c.6662del (p.Asn2221fs)
|
rs1060502620
|
|
NM_004006.3(DMD):c.6663T>C (p.Asn2221=)
|
rs2150001823
|
|
NM_004006.3(DMD):c.6664G>A (p.Glu2222Lys)
|
rs2094863563
|
|
NM_004006.3(DMD):c.6665A>T (p.Glu2222Val)
|
|
|
NM_004006.3(DMD):c.6666A>G (p.Glu2222=)
|
|
|
NM_004006.3(DMD):c.666dup (p.Pro223fs)
|
|
|
NM_004006.3(DMD):c.6672T>C (p.Val2224=)
|
|
|
NM_004006.3(DMD):c.6677G>A (p.Trp2226Ter)
|
rs2150001671
|
|
NM_004006.3(DMD):c.6681G>A (p.Leu2227=)
|
|
|
NM_004006.3(DMD):c.6684G>A (p.Glu2228=)
|
|
|
NM_004006.3(DMD):c.6689C>G (p.Ala2230Gly)
|
|
|
NM_004006.3(DMD):c.6692A>G (p.Asp2231Gly)
|
|
|
NM_004006.3(DMD):c.6695A>G (p.Asn2232Ser)
|
|
|
NM_004006.3(DMD):c.6699T>C (p.Ile2233=)
|
rs2150001540
|
|
NM_004006.3(DMD):c.6701C>A (p.Ala2234Asp)
|
|
|
NM_004006.3(DMD):c.6704G>A (p.Ser2235Asn)
|
rs1316893006
|
|
NM_004006.3(DMD):c.6704G>C (p.Ser2235Thr)
|
rs1316893006
|
|
NM_004006.3(DMD):c.6704del (p.Ser2235fs)
|
rs2094862793
|
|
NM_004006.3(DMD):c.6705T>C (p.Ser2235=)
|
|
|
NM_004006.3(DMD):c.6708C>T (p.Ile2236=)
|
|
|
NM_004006.3(DMD):c.6711A>T (p.Pro2237=)
|
|
|
NM_004006.3(DMD):c.6712C>G (p.Leu2238Val)
|
rs2094862668
|
|
NM_004006.3(DMD):c.6721G>T (p.Gly2241Ter)
|
rs2150001373
|
|
NM_004006.3(DMD):c.672T>C (p.Asp224=)
|
|
|
NM_004006.3(DMD):c.6736C>G (p.Leu2246Val)
|
|
|
NM_004006.3(DMD):c.6738A>G (p.Leu2246=)
|
rs2150001278
|
|
NM_004006.3(DMD):c.6739A>G (p.Lys2247Glu)
|
|
|
NM_004006.3(DMD):c.673A>G (p.Lys225Glu)
|
rs2063901822
|
|
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del)
|
rs398124034
|
|
NM_004006.3(DMD):c.6741A>G (p.Lys2247=)
|
rs2150001251
|
|
NM_004006.3(DMD):c.6747G>A (p.Lys2249=)
|
|
|
NM_004006.3(DMD):c.6751G>T (p.Glu2251Ter)
|
|
|
NM_004006.3(DMD):c.6753G>A (p.Glu2251=)
|
|
|
NM_004006.3(DMD):c.675G>A (p.Lys225=)
|
rs1603151588
|
|
NM_004006.3(DMD):c.6762+11T>C
|
|
|
NM_004006.3(DMD):c.6762+16C>G
|
|
|
NM_004006.3(DMD):c.6762+1G>A
|
rs886039534
|
|
NM_004006.3(DMD):c.6762+3A>T
|
rs1085307811
|
|
NM_004006.3(DMD):c.6762+7T>A
|
|
|
NM_004006.3(DMD):c.6762+8del
|
rs2150001057
|
|
NM_004006.3(DMD):c.6762G>A (p.Lys2254=)
|
rs1569516110
|
|
NM_004006.3(DMD):c.6763-11G>C
|
|
|
NM_004006.3(DMD):c.6763-14T>G
|
|
|
NM_004006.3(DMD):c.6763-15A>G
|
|
|
NM_004006.3(DMD):c.6763-18T>C
|
|
|
NM_004006.3(DMD):c.6763-3C>A
|
|
|
NM_004006.3(DMD):c.6771G>A (p.Val2257=)
|
rs2149990217
|
|
NM_004006.3(DMD):c.6774A>G (p.Glu2258=)
|
|
|
NM_004006.3(DMD):c.6779T>G (p.Leu2260Trp)
|
rs2149990187
|
|
NM_004006.3(DMD):c.6781C>T (p.Pro2261Ser)
|
|
|
NM_004006.3(DMD):c.6786G>A (p.Leu2262=)
|
|
|
NM_004006.3(DMD):c.6790C>T (p.Gln2264Ter)
|
rs128626252
|
|
NM_004006.3(DMD):c.6794G>T (p.Gly2265Val)
|
|
|
NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs)
|
rs886044490
|
|
NM_004006.3(DMD):c.6806A>G (p.Gln2269Arg)
|
rs2094829116
|
|
NM_004006.3(DMD):c.680C>G (p.Ser227Cys)
|
|
|
NM_004006.3(DMD):c.680C>T (p.Ser227Phe)
|
rs746536387
|
|
NM_004006.3(DMD):c.6814G>A (p.Glu2272Lys)
|
rs1557010214
|
|
NM_004006.3(DMD):c.681C>T (p.Ser227=)
|
rs2063900887
|
|
NM_004006.3(DMD):c.6820G>A (p.Gly2274Arg)
|
|
|
NM_004006.3(DMD):c.6828C>A (p.Pro2276=)
|
rs72466595
|
|
NM_004006.3(DMD):c.6828C>G (p.Pro2276=)
|
|
|
NM_004006.3(DMD):c.6829G>A (p.Val2277Met)
|
|
|
NM_004006.3(DMD):c.682A>C (p.Ile228Leu)
|
|
|
NM_004006.3(DMD):c.6830T>G (p.Val2277Gly)
|
rs1051247530
|
|
NM_004006.3(DMD):c.6835G>T (p.Val2279Leu)
|
|
|
NM_004006.3(DMD):c.6836T>G (p.Val2279Gly)
|
rs2149989725
|
|
NM_004006.3(DMD):c.6838A>T (p.Ser2280Cys)
|
rs767538299
|
|
NM_004006.3(DMD):c.6838dup (p.Ser2280fs)
|
rs2149989683
|
|
NM_004006.3(DMD):c.6839G>A (p.Ser2280Asn)
|
rs1060502614
|
|
NM_004006.3(DMD):c.6840del (p.Ser2280fs)
|
rs2149989620
|
|
NM_004006.3(DMD):c.684C>A (p.Ile228=)
|
|
|
NM_004006.3(DMD):c.684C>T (p.Ile228=)
|
rs2147606635
|
|
NM_004006.3(DMD):c.6855A>C (p.Pro2285=)
|
rs766079487
|
|
NM_004006.3(DMD):c.6855A>G (p.Pro2285=)
|
rs766079487
|
|
NM_004006.3(DMD):c.6859G>C (p.Glu2287Gln)
|
|
|
NM_004006.3(DMD):c.6859G>T (p.Glu2287Ter)
|
|
|
NM_004006.3(DMD):c.6865G>A (p.Asp2289Asn)
|
|
|
NM_004006.3(DMD):c.686T>G (p.Leu229Ter)
|
rs1556930769
|
|
NM_004006.3(DMD):c.6882G>A (p.Lys2294=)
|
rs2149989265
|
|
NM_004006.3(DMD):c.6883C>G (p.Leu2295Val)
|
rs762298935
|
|
NM_004006.3(DMD):c.6886A>G (p.Lys2296Glu)
|
rs1828030875
|
|
NM_004006.3(DMD):c.6898C>G (p.Leu2300Val)
|
rs2149989112
|
|
NM_004006.3(DMD):c.689T>C (p.Met230Thr)
|
rs2147606547
|
|
NM_004006.3(DMD):c.6901C>T (p.Gln2301Ter)
|
rs2094827204
|
|
NM_004006.3(DMD):c.6906G>C (p.Trp2302Cys)
|
|
|
NM_004006.3(DMD):c.6907del (p.Trp2302_Ile2303insTer)
|
|
|
NM_004006.3(DMD):c.6911A>C (p.Lys2304Thr)
|
|
|
NM_004006.3(DMD):c.6912+10T>G
|
|
|
NM_004006.3(DMD):c.6912+13C>A
|
|
|
NM_004006.3(DMD):c.6912+15A>G
|
|
|
NM_004006.3(DMD):c.6912+16T>C
|
|
|
NM_004006.3(DMD):c.6912+17C>G
|
|
|
NM_004006.3(DMD):c.6912+1G>A
|
rs746082869
|
|
NM_004006.3(DMD):c.6912+1G>T
|
|
|
NM_004006.3(DMD):c.6912+20T>C
|
|
|
NM_004006.3(DMD):c.6912+4A>C
|
|
|
NM_004006.3(DMD):c.6912+7C>A
|
rs779161941
|
|
NM_004006.3(DMD):c.6912+9T>G
|
|
|
NM_004006.3(DMD):c.6913-11_6918del
|
rs1556962571
|
|
NM_004006.3(DMD):c.6913-1G>C
|
|
|
NM_004006.3(DMD):c.6913-2A>C
|
rs1603514272
|
|
NM_004006.3(DMD):c.6923del (p.Ala2308fs)
|
|
|
NM_004006.3(DMD):c.6924_6928del (p.Ala2308_Leu2309insTer)
|
|
|
NM_004006.3(DMD):c.6928C>A (p.Pro2310Thr)
|
|
|
NM_004006.3(DMD):c.6928C>T (p.Pro2310Ser)
|
|
|
NM_004006.3(DMD):c.692del (p.Tyr231fs)
|
rs2147606440
|
|
NM_004006.3(DMD):c.6937C>T (p.Gln2313Ter)
|
rs2149680612
|
|
NM_004006.3(DMD):c.6942A>G (p.Gly2314=)
|
rs1556962536
|
|
NM_004006.3(DMD):c.6943G>A (p.Glu2315Lys)
|
|
|
NM_004006.3(DMD):c.6947T>C (p.Ile2316Thr)
|
|
|
NM_004006.3(DMD):c.6949G>T (p.Glu2317Ter)
|
rs2149680574
|
|
NM_004006.3(DMD):c.6955C>T (p.Gln2319Ter)
|
rs128625230
|
|
NM_004006.3(DMD):c.6959T>C (p.Ile2320Thr)
|
|
|
NM_004006.3(DMD):c.6963A>C (p.Lys2321Asn)
|
rs1465907696
|
|
NM_004006.3(DMD):c.6964del (p.Asp2322fs)
|
rs398124039
|
|
NM_004006.3(DMD):c.6966C>T (p.Asp2322=)
|
|
|
NM_004006.3(DMD):c.6967del (p.Gln2325fs)
|
|
|
NM_004006.3(DMD):c.6970G>A (p.Gly2324Arg)
|
|
|
NM_004006.3(DMD):c.6982A>G (p.Lys2328Glu)
|
|
|
NM_004006.3(DMD):c.6985A>T (p.Lys2329Ter)
|
|
|
NM_004006.3(DMD):c.6986A>G (p.Lys2329Arg)
|
|
|
NM_004006.3(DMD):c.6986_6987insTATATGGATCACATATACTCATCAGTGATTGTTCAGTAGTGAGCTGTGGGTCCTGCAGGAGCCAGCCAGTCTCCAA (p.Lys2329delinsAsnIleTrpIleThrTyrThrHisGlnTer)
|
|
|
NM_004006.3(DMD):c.6986del (p.Lys2329fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.6986dup (p.Leu2330fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.6990T>C (p.Leu2330=)
|
|
|
NM_004006.3(DMD):c.6990T>G (p.Leu2330=)
|
|
|
NM_004006.3(DMD):c.6994G>C (p.Asp2332His)
|
|
|
NM_004006.3(DMD):c.6999T>C (p.Leu2333=)
|
|
|
NM_004006.3(DMD):c.699_703del (p.Ser234fs)
|
|
|
NM_004006.3(DMD):c.699_703dup (p.Leu235fs)
|
rs1569469298
|
|
NM_004006.3(DMD):c.69dup (p.Trp24fs)
|
rs2147755217
|
|
NM_004006.3(DMD):c.7006C>A (p.Gln2336Lys)
|
rs2149680307
|
|
NM_004006.3(DMD):c.7012A>T (p.Asn2338Tyr)
|
rs2149680239
|
|
NM_004006.3(DMD):c.7015C>A (p.His2339Asn)
|
rs2093951396
|
|
NM_004006.3(DMD):c.7018C>T (p.Leu2340=)
|
rs1189846429
|
|
NM_004006.3(DMD):c.7019T>C (p.Leu2340Pro)
|
rs1569492076
|
|
NM_004006.3(DMD):c.7021C>T (p.Leu2341=)
|
|
|
NM_004006.3(DMD):c.7025_7026insTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATCATCTGCTGCT (p.Leu2342_Trp2343insGlyPheLeuPheLeuArgTer)
|
|
|
NM_004006.3(DMD):c.702A>T (p.Ser234=)
|
rs1350188088
|
|
NM_004006.3(DMD):c.7031T>C (p.Leu2344Ser)
|
|
|
NM_004006.3(DMD):c.7032A>G (p.Leu2344=)
|
rs1556962392
|
|
NM_004006.3(DMD):c.7034C>T (p.Ser2345Phe)
|
rs2149680055
|
|
NM_004006.3(DMD):c.703C>G (p.Leu235Val)
|
rs200177107
|
|
NM_004006.3(DMD):c.7048C>T (p.Gln2350Ter)
|
rs2149679978
|
|
NM_004006.3(DMD):c.7048_7057del (p.Gln2350fs)
|
rs1603513697
|
|
NM_004006.3(DMD):c.704T>A (p.Leu235His)
|
|
|
NM_004006.3(DMD):c.7050G>T (p.Gln2350His)
|
|
|
NM_004006.3(DMD):c.7058T>G (p.Ile2353Ser)
|
|
|
NM_004006.3(DMD):c.705C>T (p.Leu235=)
|
|
|
NM_004006.3(DMD):c.7060del (p.Tyr2354fs)
|
rs2149679899
|
|
NM_004006.3(DMD):c.7062T>A (p.Tyr2354Ter)
|
|
|
NM_004006.3(DMD):c.7064A>G (p.Asn2355Ser)
|
rs1366729351
|
|
NM_004006.3(DMD):c.7065C>T (p.Asn2355=)
|
|
|
NM_004006.3(DMD):c.7066C>T (p.Gln2356Ter)
|
rs1603513684
|
|
NM_004006.3(DMD):c.7068_7069del (p.Gln2356fs)
|
rs1060502659
|
|
NM_004006.3(DMD):c.7070C>A (p.Pro2357Gln)
|
rs1448590525
|
|
NM_004006.3(DMD):c.7074C>T (p.Asn2358=)
|
rs1556962301
|
|
NM_004006.3(DMD):c.7075C>T (p.Gln2359Ter)
|
rs2149679784
|
|
NM_004006.3(DMD):c.7076A>G (p.Gln2359Arg)
|
|
|
NM_004006.3(DMD):c.7080A>G (p.Glu2360=)
|
rs1800274
|
|
NM_004006.3(DMD):c.7081G>A (p.Gly2361Arg)
|
|
|
NM_004006.3(DMD):c.7084C>T (p.Pro2362Ser)
|
rs2093949947
|
|
NM_004006.3(DMD):c.7089T>C (p.Phe2363=)
|
rs770999942
|
|
NM_004006.3(DMD):c.7090G>A (p.Asp2364Asn)
|
|
|
NM_004006.3(DMD):c.7098+10T>A
|
|
|
NM_004006.3(DMD):c.7098+16C>T
|
|
|
NM_004006.3(DMD):c.7098+19T>C
|
rs2149679424
|
|
NM_004006.3(DMD):c.7098+1G>C
|
|
|
NM_004006.3(DMD):c.7098+1G>T
|
rs1556962223
|
|
NM_004006.3(DMD):c.7098+3A>T
|
rs1556962217
|
|
NM_004006.3(DMD):c.7098+9C>A
|
rs371632583
|
|
NM_004006.3(DMD):c.7098+9C>T
|
rs371632583
|
|
NM_004006.3(DMD):c.7098+9del
|
rs2093949239
|
|
NM_004006.3(DMD):c.7099-13T>C
|
|
|
NM_004006.3(DMD):c.7099-15G>T
|
|
|
NM_004006.3(DMD):c.7099-18A>G
|
|
|
NM_004006.3(DMD):c.7099-20A>G
|
|
|
NM_004006.3(DMD):c.7099-3C>T
|
|
|
NM_004006.3(DMD):c.7099-5C>A
|
rs1216599972
|
|
NM_004006.3(DMD):c.7099-6C>T
|
rs2149493531
|
|
NM_004006.3(DMD):c.7099-7del
|
|
|
NM_004006.3(DMD):c.7099-9T>C
|
rs1603484595
|
|
NM_004006.3(DMD):c.7105G>A (p.Glu2369Lys)
|
|
|
NM_004006.3(DMD):c.7113A>T (p.Ala2371=)
|
|
|
NM_004006.3(DMD):c.711A>G (p.Gln237=)
|
rs778632674
|
|
NM_004006.3(DMD):c.7128A>G (p.Gln2376=)
|
rs2149493430
|
|
NM_004006.3(DMD):c.7131G>T (p.Pro2377=)
|
|
|
NM_004006.3(DMD):c.7132del (p.Asp2378fs)
|
|
|
NM_004006.3(DMD):c.7134T>C (p.Asp2378=)
|
|
|
NM_004006.3(DMD):c.7142A>G (p.Glu2381Gly)
|
|
|
NM_004006.3(DMD):c.7143G>A (p.Glu2381=)
|
|
|
NM_004006.3(DMD):c.7149G>A (p.Leu2383=)
|
|
|
NM_004006.3(DMD):c.714T>A (p.Val238=)
|
|
|
NM_004006.3(DMD):c.7170C>T (p.Tyr2390=)
|
|
|
NM_004006.3(DMD):c.7172A>G (p.Lys2391Arg)
|
rs1556930538
|
|
NM_004006.3(DMD):c.7173G>C (p.Lys2391Asn)
|
|
|
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)
|
rs202090289
|
|
NM_004006.3(DMD):c.7179dup (p.Pro2394fs)
|
rs2093207581
|
|
NM_004006.3(DMD):c.717G>A (p.Leu239=)
|
|
|
NM_004006.3(DMD):c.717G>T (p.Leu239Phe)
|
|
|
NM_004006.3(DMD):c.718C>A (p.Pro240Thr)
|
rs2063897942
|
|
NM_004006.3(DMD):c.7197G>A (p.Val2399=)
|
rs2149493157
|
|
NM_004006.3(DMD):c.71G>A (p.Trp24Ter)
|
rs2147755143
|
|
NM_004006.3(DMD):c.7200+11A>T
|
|
|
NM_004006.3(DMD):c.7200+14C>T
|
|
|
NM_004006.3(DMD):c.7200+17T>A
|
rs777362327
|
|
NM_004006.3(DMD):c.7200+19G>A
|
|
|
NM_004006.3(DMD):c.7200G>A (p.Lys2400=)
|
|
|
NM_004006.3(DMD):c.7201-10del
|
rs746750318
|
|
NM_004006.3(DMD):c.7201-14C>T
|
rs2149424829
|
|
NM_004006.3(DMD):c.7201-19G>A
|
|
|
NM_004006.3(DMD):c.7201-1G>C
|
|
|
NM_004006.3(DMD):c.7201-398_7215del
|
rs2149424713
|
|
NM_004006.3(DMD):c.7201-4A>G
|
rs1556917126
|
|
NM_004006.3(DMD):c.7201-7G>C
|
|
|
NM_004006.3(DMD):c.720T>G (p.Pro240=)
|
rs2147605620
|
|
NM_004006.3(DMD):c.7216C>T (p.Leu2406=)
|
rs2149424704
|
|
NM_004006.3(DMD):c.7224T>G (p.Ser2408=)
|
|
|
NM_004006.3(DMD):c.7231A>T (p.Lys2411Ter)
|
|
|
NM_004006.3(DMD):c.7236G>A (p.Ala2412=)
|
rs149003002
|
|
NM_004006.3(DMD):c.7237G>A (p.Val2413Ile)
|
rs373604575
|
|
NM_004006.3(DMD):c.7241_7243delinsGTTT (p.Asn2414fs)
|
rs1064792967
|
|
NM_004006.3(DMD):c.7241dup (p.Asn2414fs)
|
|
|
NM_004006.3(DMD):c.7246T>C (p.Leu2416=)
|
rs2149424583
|
|
NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)
|
rs1569452000
|
|
NM_004006.3(DMD):c.7247dup (p.Leu2416fs)
|
rs797044764
|
|
NM_004006.3(DMD):c.7248A>G (p.Leu2416=)
|
|
|
NM_004006.3(DMD):c.7249C>T (p.Leu2417Phe)
|
|
|
NM_004006.3(DMD):c.724C>G (p.Gln242Glu)
|
|
|
NM_004006.3(DMD):c.724C>T (p.Gln242Ter)
|
rs128626238
|
|
NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)
|
rs1569451994
|
|
NM_004006.3(DMD):c.7263G>A (p.Arg2421=)
|
|
|
NM_004006.3(DMD):c.7268del (p.Lys2423fs)
|
rs1556917057
|
|
NM_004006.3(DMD):c.7269G>A (p.Lys2423=)
|
|
|
NM_004006.3(DMD):c.7277A>G (p.Asp2426Gly)
|
|
|
NM_004006.3(DMD):c.7278C>T (p.Asp2426=)
|
|
|
NM_004006.3(DMD):c.727G>T (p.Val243Leu)
|
|
|
NM_004006.3(DMD):c.7281A>T (p.Leu2427=)
|
rs886038872
|
|
NM_004006.3(DMD):c.7283C>T (p.Ala2428Val)
|
|
|
NM_004006.3(DMD):c.7288G>C (p.Gly2430Arg)
|
rs200078222
|
|
NM_004006.3(DMD):c.7290A>G (p.Gly2430=)
|
rs2092718091
|
|
NM_004006.3(DMD):c.729G>A (p.Val243=)
|
rs182730498
|
|
NM_004006.3(DMD):c.7300A>G (p.Ile2434Val)
|
rs895117941
|
|
NM_004006.3(DMD):c.7301T>C (p.Ile2434Thr)
|
|
|
NM_004006.3(DMD):c.7307C>G (p.Ala2436Gly)
|
|
|
NM_004006.3(DMD):c.7309+10C>A
|
rs2092717395
|
|
NM_004006.3(DMD):c.7309+10C>T
|
rs2092717395
|
|
NM_004006.3(DMD):c.7309+1G>A
|
rs398124044
|
|
NM_004006.3(DMD):c.7309+2dup
|
|
|
NM_004006.3(DMD):c.7309+5G>A
|
|
|
NM_004006.3(DMD):c.7309+7A>G
|
|
|
NM_004006.3(DMD):c.7310-12A>G
|
|
|
NM_004006.3(DMD):c.7310-17A>G
|
rs2149245738
|
|
NM_004006.3(DMD):c.7310-19A>G
|
|
|
NM_004006.3(DMD):c.7310-20A>G
|
|
|
NM_004006.3(DMD):c.7310-2A>G
|
|
|
NM_004006.3(DMD):c.7310-4T>G
|
|
|
NM_004006.3(DMD):c.7310-5T>G
|
rs2090517382
|
|
NM_004006.3(DMD):c.7310-8T>A
|
|
|
NM_004006.3(DMD):c.7314T>G (p.Pro2438=)
|
rs1370627309
|
|
NM_004006.3(DMD):c.731G>A (p.Ser244Asn)
|
rs751368412
|
|
NM_004006.3(DMD):c.7320G>A (p.Gln2440=)
|
rs2149245605
|
|
NM_004006.3(DMD):c.7323T>A (p.Thr2441=)
|
|
|
NM_004006.3(DMD):c.7327A>C (p.Thr2443Pro)
|
rs776243218
|
|
NM_004006.3(DMD):c.7334del (p.Val2445fs)
|
|
|
NM_004006.3(DMD):c.7344T>C (p.Pro2448=)
|
|
|
NM_004006.3(DMD):c.7348_7542+748delinsTCACCA
|
|
|
NM_004006.3(DMD):c.734T>C (p.Ile245Thr)
|
|
|
NM_004006.3(DMD):c.7351A>G (p.Thr2451Ala)
|
|
|
NM_004006.3(DMD):c.7353T>C (p.Thr2451=)
|
rs2149245425
|
|
NM_004006.3(DMD):c.7362T>G (p.Thr2454=)
|
|
|
NM_004006.3(DMD):c.7363G>C (p.Ala2455Pro)
|
rs1603464017
|
|
NM_004006.3(DMD):c.7364C>T (p.Ala2455Val)
|
|
|
NM_004006.3(DMD):c.7365C>T (p.Ala2455=)
|
rs2149245352
|
|
NM_004006.3(DMD):c.7366A>G (p.Ile2456Val)
|
rs1467855560
|
|
NM_004006.3(DMD):c.7371C>G (p.Ser2457=)
|
|
|
NM_004006.3(DMD):c.7378G>T (p.Glu2460Ter)
|
rs2090513299
|
|
NM_004006.3(DMD):c.7381del (p.Met2461fs)
|
rs2149245287
|
|
NM_004006.3(DMD):c.7385C>A (p.Pro2462Gln)
|
|
|
NM_004006.3(DMD):c.7390_7391delinsAT (p.Ser2464Ile)
|
|
|
NM_004006.3(DMD):c.7392C>T (p.Ser2464=)
|
rs2090512704
|
|
NM_004006.3(DMD):c.7398del (p.Met2466fs)
|
|
|
NM_004006.3(DMD):c.7400T>A (p.Leu2467Ter)
|
rs1254776844
|
|
NM_004006.3(DMD):c.7400T>C (p.Leu2467Ser)
|
|
|
NM_004006.3(DMD):c.7402G>C (p.Glu2468Gln)
|
rs128626253
|
|
NM_004006.3(DMD):c.7407A>C (p.Val2469=)
|
rs2149245176
|
|
NM_004006.3(DMD):c.7407A>G (p.Val2469=)
|
|
|
NM_004006.3(DMD):c.7413T>A (p.Ala2471=)
|
rs2149245165
|
|
NM_004006.3(DMD):c.7418C>T (p.Ala2473Val)
|
|
|
NM_004006.3(DMD):c.741C>A (p.Ala247=)
|
|
|
NM_004006.3(DMD):c.741C>T (p.Ala247=)
|
rs2147605009
|
|
NM_004006.3(DMD):c.7421A>G (p.Asp2474Gly)
|
rs2149245152
|
|
NM_004006.3(DMD):c.7427del (p.Asn2476fs)
|
|
|
NM_004006.3(DMD):c.7431G>A (p.Arg2477=)
|
|
|
NM_004006.3(DMD):c.7437G>A (p.Trp2479Ter)
|
rs2149245072
|
|
NM_004006.3(DMD):c.7440A>G (p.Thr2480=)
|
rs2149245046
|
|
NM_004006.3(DMD):c.7442A>G (p.Glu2481Gly)
|
|
|
NM_004006.3(DMD):c.7443A>G (p.Glu2481=)
|
|
|
NM_004006.3(DMD):c.7449C>A (p.Thr2483=)
|
|
|
NM_004006.3(DMD):c.7449del (p.Asp2484fs)
|
rs2149244988
|
|
NM_004006.3(DMD):c.744C>A (p.Ile248=)
|
rs2147604978
|
|
NM_004006.3(DMD):c.7450G>C (p.Asp2484His)
|
rs773102625
|
|
NM_004006.3(DMD):c.7452C>A (p.Asp2484Glu)
|
|
|
NM_004006.3(DMD):c.7454G>A (p.Trp2485Ter)
|
rs142500746
|
|
NM_004006.3(DMD):c.7458T>G (p.Leu2486=)
|
rs2149244899
|
|
NM_004006.3(DMD):c.745C>T (p.Gln249Ter)
|
rs2147604940
|
|
NM_004006.3(DMD):c.7462C>T (p.Leu2488=)
|
rs2149244886
|
|
NM_004006.3(DMD):c.7464G>A (p.Leu2488=)
|
rs1603464003
|
|
NM_004006.3(DMD):c.7467T>G (p.Leu2489=)
|
|
|
NM_004006.3(DMD):c.7471C>T (p.Gln2491Ter)
|
rs2149244826
|
|
NM_004006.3(DMD):c.7471del (p.Gln2491fs)
|
|
|
NM_004006.3(DMD):c.7485A>G (p.Ser2495=)
|
rs1603463999
|
|
NM_004006.3(DMD):c.7491G>A (p.Arg2497=)
|
rs2149244727
|
|
NM_004006.3(DMD):c.7491G>C (p.Arg2497Ser)
|
|
|
NM_004006.3(DMD):c.7493T>A (p.Val2498Glu)
|
|
|
NM_004006.3(DMD):c.7498G>A (p.Val2500Met)
|
|
|
NM_004006.3(DMD):c.7500G>A (p.Val2500=)
|
rs1185017453
|
|
NM_004006.3(DMD):c.7502G>A (p.Gly2501Asp)
|
|
|
NM_004006.3(DMD):c.7506C>T (p.Asp2502=)
|
rs2149244621
|
|
NM_004006.3(DMD):c.7509T>C (p.Leu2503=)
|
|
|
NM_004006.3(DMD):c.7510G>C (p.Glu2504Gln)
|
|
|
NM_004006.3(DMD):c.7514A>T (p.Asp2505Val)
|
rs2090505173
|
|
NM_004006.3(DMD):c.7515T>C (p.Asp2505=)
|
rs2149244578
|
|
NM_004006.3(DMD):c.7517T>A (p.Ile2506Asn)
|
rs2149244553
|
|
NM_004006.3(DMD):c.7521C>G (p.Asn2507Lys)
|
rs112516305
|
|
NM_004006.3(DMD):c.7522G>T (p.Glu2508Ter)
|
|
|
NM_004006.3(DMD):c.7536G>A (p.Lys2512=)
|
|
|
NM_004006.3(DMD):c.7538A>C (p.Gln2513Pro)
|
rs1569386546
|
|
NM_004006.3(DMD):c.7542+13A>T
|
|
|
NM_004006.3(DMD):c.7542+13del
|
|
|
NM_004006.3(DMD):c.7542+13dup
|
rs754483930
|
|
NM_004006.3(DMD):c.7542+1G>A
|
rs2149244412
|
|
NM_004006.3(DMD):c.7542+20A>C
|
|
|
NM_004006.3(DMD):c.7542+5G>A
|
rs1468868482
|
|
NM_004006.3(DMD):c.7542+7G>A
|
rs398124047
|
|
NM_004006.3(DMD):c.7543-12_7543-11del
|
|
|
NM_004006.3(DMD):c.7543-14A>G
|
|
|
NM_004006.3(DMD):c.7543-16A>T
|
rs2149018824
|
|
NM_004006.3(DMD):c.7543-17del
|
rs754422509
|
|
NM_004006.3(DMD):c.7543-18G>A
|
|
|
NM_004006.3(DMD):c.7543-2A>G
|
rs2149018666
|
|
NM_004006.3(DMD):c.7543-4A>T
|
rs2149018672
|
|
NM_004006.3(DMD):c.7543-6T>C
|
rs928060590
|
|
NM_004006.3(DMD):c.7544C>A (p.Ala2515Glu)
|
rs373728963
|
|
NM_004006.3(DMD):c.7547C>T (p.Thr2516Ile)
|
|
|
NM_004006.3(DMD):c.756A>C (p.Glu252Asp)
|
|
|
NM_004006.3(DMD):c.7572T>C (p.Arg2524=)
|
rs2149018476
|
|
NM_004006.3(DMD):c.7574C>T (p.Pro2525Leu)
|
rs2149018455
|
|
NM_004006.3(DMD):c.7575C>G (p.Pro2525=)
|
rs1569308187
|
|
NM_004006.3(DMD):c.7576C>T (p.Gln2526Ter)
|
rs2149018402
|
|
NM_004006.3(DMD):c.7577dup (p.Leu2527fs)
|
rs2086356460
|
|
NM_004006.3(DMD):c.7585G>T (p.Glu2529Ter)
|
rs771509836
|
|
NM_004006.3(DMD):c.7598C>T (p.Ala2533Val)
|
|
|
NM_004006.3(DMD):c.7602C>G (p.Ala2534=)
|
rs748309027
|
|
NM_004006.3(DMD):c.7603C>T (p.Gln2535Ter)
|
rs2149018213
|
|
NM_004006.3(DMD):c.7616dup (p.Asn2539fs)
|
rs1603452196
|
|
NM_004006.3(DMD):c.7617C>T (p.Asn2539=)
|
rs1393221231
|
|
NM_004006.3(DMD):c.7618A>G (p.Lys2540Glu)
|
|
|
NM_004006.3(DMD):c.7629T>A (p.Asn2543Lys)
|
|
|
NM_004006.3(DMD):c.7629_7632del (p.Asn2543fs)
|
rs2149018065
|
|
NM_004006.3(DMD):c.7636G>A (p.Ala2546Thr)
|
rs1368936548
|
|
NM_004006.3(DMD):c.7636G>T (p.Ala2546Ser)
|
|
|
NM_004006.3(DMD):c.7642A>G (p.Thr2548Ala)
|
|
|
NM_004006.3(DMD):c.7645A>G (p.Ile2549Val)
|
rs1006232878
|
|
NM_004006.3(DMD):c.764C>G (p.Pro255Arg)
|
rs2147604642
|
|
NM_004006.3(DMD):c.7651dup (p.Thr2551fs)
|
rs2149017933
|
|
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.765A>C (p.Pro255=)
|
|
|
NM_004006.3(DMD):c.765A>G (p.Pro255=)
|
|
|
NM_004006.3(DMD):c.7660+10T>C
|
|
|
NM_004006.3(DMD):c.7660+17G>T
|
|
|
NM_004006.3(DMD):c.7660+19A>G
|
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
NM_004006.3(DMD):c.7660+20T>C
|
|
|
NM_004006.3(DMD):c.7660+2262_7660+2263inv
|
|
|
NM_004006.3(DMD):c.7660+2263A>G
|
rs5927819
|
|
NM_004006.3(DMD):c.7660+2T>G
|
|
|
NM_004006.3(DMD):c.7660+8T>G
|
|
|
NM_004006.3(DMD):c.7660+9T>G
|
rs2149017716
|
|
NM_004006.3(DMD):c.7661-11T>C
|
|
|
NM_004006.3(DMD):c.7661-1G>A
|
rs1556806346
|
|
NM_004006.3(DMD):c.7661-2A>G
|
rs1556806356
|
|
NM_004006.3(DMD):c.7661-5T>C
|
|
|
NM_004006.3(DMD):c.7666A>C (p.Arg2556=)
|
rs2148734353
|
|
NM_004006.3(DMD):c.7669A>G (p.Ile2557Val)
|
rs1569221011
|
|
NM_004006.3(DMD):c.7672C>T (p.Gln2558Ter)
|
rs398124051
|
|
NM_004006.3(DMD):c.7675A>G (p.Asn2559Asp)
|
|
|
NM_004006.3(DMD):c.7680G>A (p.Gln2560=)
|
rs2148734246
|
|
NM_004006.3(DMD):c.7680del (p.Gln2560fs)
|
rs2148734269
|
|
NM_004006.3(DMD):c.7684G>C (p.Asp2562His)
|
|
|
NM_004006.3(DMD):c.76A>C (p.Asn26His)
|
rs1057521321
|
|
NM_004006.3(DMD):c.7701C>T (p.His2567=)
|
rs1603445347
|
|
NM_004006.3(DMD):c.7705C>A (p.Gln2569Lys)
|
rs1603445344
|
|
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)
|
rs1603445344
|
|
NM_004006.3(DMD):c.7707G>C (p.Gln2569His)
|
|
|
NM_004006.3(DMD):c.7711C>A (p.Arg2571=)
|
rs757011771
|
|
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)
|
rs371588290
|
|
NM_004006.3(DMD):c.771A>G (p.Pro257=)
|
rs2147604478
|
|
NM_004006.3(DMD):c.7720C>T (p.Gln2574Ter)
|
rs2082260996
|
|
NM_004006.3(DMD):c.7722G>A (p.Gln2574=)
|
rs368164231
|
|
NM_004006.3(DMD):c.7723T>C (p.Leu2575=)
|
rs2148733773
|
|
NM_004006.3(DMD):c.7733T>C (p.Met2578Thr)
|
|
|
NM_004006.3(DMD):c.7734G>A (p.Met2578Ile)
|
|
|
NM_004006.3(DMD):c.7736T>A (p.Leu2579Ter)
|
rs2082260036
|
|
NM_004006.3(DMD):c.7741G>A (p.Asp2581Asn)
|
rs763179470
|
|
NM_004006.3(DMD):c.7748C>G (p.Thr2583Arg)
|
|
|
NM_004006.3(DMD):c.7748C>T (p.Thr2583Ile)
|
|
|
NM_004006.3(DMD):c.7752A>G (p.Gln2584=)
|
rs2148733463
|
|
NM_004006.3(DMD):c.7753T>C (p.Trp2585Arg)
|
rs765595016
|
|
NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter)
|
rs762394978
|
|
NM_004006.3(DMD):c.7761A>G (p.Glu2587=)
|
|
|
NM_004006.3(DMD):c.7765A>G (p.Lys2589Glu)
|
|
|
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)
|
rs398124055
|
|
NM_004006.3(DMD):c.7773A>G (p.Glu2591=)
|
|
|
NM_004006.3(DMD):c.7776T>C (p.Ala2592=)
|
|
|
NM_004006.3(DMD):c.7776T>G (p.Ala2592=)
|
rs2148733304
|
|
NM_004006.3(DMD):c.7779G>A (p.Glu2593=)
|
|
|
NM_004006.3(DMD):c.7781del (p.Gln2594fs)
|
rs878854621
|
|
NM_004006.3(DMD):c.7782G>A (p.Gln2594=)
|
rs573578099
|
|
NM_004006.3(DMD):c.7784T>A (p.Val2595Asp)
|
rs2082257158
|
|
NM_004006.3(DMD):c.7788A>G (p.Leu2596=)
|
rs2082256994
|
|
NM_004006.3(DMD):c.778G>C (p.Val260Leu)
|
|
|
NM_004006.3(DMD):c.7791A>C (p.Gly2597=)
|
rs2148733097
|
|
NM_004006.3(DMD):c.7792C>T (p.Gln2598Ter)
|
rs2148733074
|
|
NM_004006.3(DMD):c.7795G>C (p.Ala2599Pro)
|
rs1569220550
|
|
NM_004006.3(DMD):c.7795G>T (p.Ala2599Ser)
|
rs1569220550
|
|
NM_004006.3(DMD):c.7799G>A (p.Arg2600Lys)
|
rs747127624
|
|
NM_004006.3(DMD):c.779T>A (p.Val260Glu)
|
rs2147604235
|
|
NM_004006.3(DMD):c.7802C>T (p.Ala2601Val)
|
rs892657975
|
|
NM_004006.3(DMD):c.7803C>G (p.Ala2601=)
|
rs933682011
|
|
NM_004006.3(DMD):c.7806G>A (p.Lys2602=)
|
rs2148732901
|
|
NM_004006.3(DMD):c.7808T>C (p.Leu2603Pro)
|
|
|
NM_004006.3(DMD):c.780G>C (p.Val260=)
|
|
|
NM_004006.3(DMD):c.7815A>G (p.Ser2605=)
|
rs2148732803
|
|
NM_004006.3(DMD):c.7815A>T (p.Ser2605=)
|
rs2148732803
|
|
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter)
|
rs863225009
|
|
NM_004006.3(DMD):c.7822G>T (p.Glu2608Ter)
|
rs2148732716
|
|
NM_004006.3(DMD):c.7826G>A (p.Gly2609Asp)
|
rs1060502649
|
|
NM_004006.3(DMD):c.7833_7834dup (p.Thr2612fs)
|
|
|
NM_004006.3(DMD):c.7836A>G (p.Thr2612=)
|
rs2148732626
|
|
NM_004006.3(DMD):c.7842T>C (p.Asp2614=)
|
rs2148732569
|
|
NM_004006.3(DMD):c.7843G>A (p.Ala2615Thr)
|
|
|
NM_004006.3(DMD):c.7847T>C (p.Ile2616Thr)
|
rs2148732500
|
|
NM_004006.3(DMD):c.7852A>T (p.Lys2618Ter)
|
rs2082253437
|
|
NM_004006.3(DMD):c.7853del (p.Lys2618fs)
|
|
|
NM_004006.3(DMD):c.7857A>G (p.Lys2619=)
|
|
|
NM_004006.3(DMD):c.7866A>G (p.Glu2622=)
|
rs2082252626
|
|
NM_004006.3(DMD):c.7872+15T>C
|
|
|
NM_004006.3(DMD):c.7872+16A>G
|
|
|
NM_004006.3(DMD):c.7872+1G>A
|
rs1603445278
|
|
NM_004006.3(DMD):c.7872+3T>A
|
rs755923778
|
|
NM_004006.3(DMD):c.7873-15C>T
|
|
|
NM_004006.3(DMD):c.7873-528_7873-3del
|
rs1603441754
|
|
NM_004006.3(DMD):c.7873-6C>G
|
|
|
NM_004006.3(DMD):c.7873-8del
|
rs919694751
|
|
NM_004006.3(DMD):c.7877T>C (p.Leu2626Ser)
|
|
|
NM_004006.3(DMD):c.7880C>T (p.Ala2627Val)
|
|
|
NM_004006.3(DMD):c.7881C>A (p.Ala2627=)
|
rs2148616170
|
|
NM_004006.3(DMD):c.7891C>T (p.Arg2631Cys)
|
|
|
NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)
|
rs398124058
|
|
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)
|
rs1556790316
|
|
NM_004006.3(DMD):c.789A>G (p.Glu263=)
|
|
|
NM_004006.3(DMD):c.7907A>T (p.Asn2636Ile)
|
|
|
NM_004006.3(DMD):c.7908T>C (p.Asn2636=)
|
|
|
NM_004006.3(DMD):c.7909G>A (p.Val2637Ile)
|
|
|
NM_004006.3(DMD):c.790G>T (p.Glu264Ter)
|
rs2147604088
|
|
NM_004006.3(DMD):c.7911A>C (p.Val2637=)
|
|
|
NM_004006.3(DMD):c.7915G>A (p.Val2639Met)
|
rs2148615898
|
|
NM_004006.3(DMD):c.7921A>G (p.Asn2641Asp)
|
rs2080895011
|
|
NM_004006.3(DMD):c.7922A>G (p.Asn2641Ser)
|
|
|
NM_004006.3(DMD):c.7928T>G (p.Leu2643Trp)
|
|
|
NM_004006.3(DMD):c.7929G>A (p.Leu2643=)
|
rs2148615763
|
|
NM_004006.3(DMD):c.7931C>T (p.Ala2644Val)
|
|
|
NM_004006.3(DMD):c.793C>A (p.His265Asn)
|
rs1603150210
|
|
NM_004006.3(DMD):c.793C>T (p.His265Tyr)
|
rs1603150210
|
|
NM_004006.3(DMD):c.7944C>T (p.Leu2648=)
|
rs1060504675
|
|
NM_004006.3(DMD):c.7946G>A (p.Arg2649Gln)
|
|
|
NM_004006.3(DMD):c.794A>G (p.His265Arg)
|
|
|
NM_004006.3(DMD):c.7964A>G (p.Asp2655Gly)
|
|
|
NM_004006.3(DMD):c.7967C>G (p.Thr2656Ser)
|
|
|
NM_004006.3(DMD):c.7967C>T (p.Thr2656Ile)
|
|
|
NM_004006.3(DMD):c.7969A>G (p.Arg2657Gly)
|
rs778467350
|
|
NM_004006.3(DMD):c.7973A>G (p.Lys2658Arg)
|
|
|
NM_004006.3(DMD):c.7977C>A (p.Val2659=)
|
rs2148615378
|
|
NM_004006.3(DMD):c.7977C>G (p.Val2659=)
|
|
|
NM_004006.3(DMD):c.7992_7993del (p.Asn2665fs)
|
rs2148615195
|
|
NM_004006.3(DMD):c.799_831+12del
|
|
|
NM_004006.3(DMD):c.79G>C (p.Ala27Pro)
|
rs886043234
|
|
NM_004006.3(DMD):c.8000A>T (p.Asn2667Ile)
|
|
|
NM_004006.3(DMD):c.8007T>A (p.Ser2669=)
|
rs2148615112
|
|
NM_004006.3(DMD):c.8007T>C (p.Ser2669=)
|
rs2148615112
|
|
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)
|
rs1569186252
|
|
NM_004006.3(DMD):c.8018T>G (p.Ile2673Ser)
|
rs2080888300
|
|
NM_004006.3(DMD):c.8026del (p.Arg2676fs)
|
|
|
NM_004006.3(DMD):c.8027+10A>G
|
rs2148614831
|
|
NM_004006.3(DMD):c.8027+11_8027+15dup
|
rs750738036
|
|
NM_004006.3(DMD):c.8027+13T>C
|
rs772027445
|
|
NM_004006.3(DMD):c.8027+15A>C
|
|
|
NM_004006.3(DMD):c.8027+19C>G
|
|
|
NM_004006.3(DMD):c.8027+1G>A
|
rs1556789913
|
|
NM_004006.3(DMD):c.8027+3A>G
|
|
|
NM_004006.3(DMD):c.8027+4T>C
|
|
|
NM_004006.3(DMD):c.8027+6A>G
|
|
|
NM_004006.3(DMD):c.8028-11G>A
|
|
|
NM_004006.3(DMD):c.8028-18A>G
|
rs2148423755
|
|
NM_004006.3(DMD):c.8028-3C>T
|
rs1603430208
|
|
NM_004006.3(DMD):c.8028-4G>T
|
|
|
NM_004006.3(DMD):c.8028-501_8078del
|
|
|
NM_004006.3(DMD):c.8028-8C>A
|
|
|
NM_004006.3(DMD):c.8028-9C>T
|
|
|
NM_004006.3(DMD):c.8033G>C (p.Ser2678Thr)
|
rs942124280
|
|
NM_004006.3(DMD):c.8038C>A (p.Arg2680=)
|
rs863225011
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
NM_004006.3(DMD):c.8039G>T (p.Arg2680Leu)
|
rs778303577
|
|
NM_004006.3(DMD):c.803T>C (p.Leu268Ser)
|
rs939491009
|
|
NM_004006.3(DMD):c.8044G>A (p.Ala2682Thr)
|
rs2148423482
|
|
NM_004006.3(DMD):c.8055A>G (p.Glu2685=)
|
|
|
NM_004006.3(DMD):c.8056G>C (p.Glu2686Gln)
|
|
|
NM_004006.3(DMD):c.805C>G (p.His269Asp)
|
|
|
NM_004006.3(DMD):c.8062C>G (p.His2688Asp)
|
rs2148423329
|
|
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.8071C>T (p.Leu2691=)
|
rs2078925882
|
|
NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter)
|
rs1556764922
|
|
NM_004006.3(DMD):c.807_808delinsAT (p.His269_His270delinsGlnTyr)
|
|
|
NM_004006.3(DMD):c.8080T>C (p.Phe2694Leu)
|
rs2148423031
|
|
NM_004006.3(DMD):c.8082C>T (p.Phe2694=)
|
rs2078925076
|
|
NM_004006.3(DMD):c.8085C>A (p.Pro2695=)
|
|
|
NM_004006.3(DMD):c.8085C>T (p.Pro2695=)
|
|
|
NM_004006.3(DMD):c.8086C>T (p.Leu2696=)
|
rs2148422898
|
|
NM_004006.3(DMD):c.8086del (p.Leu2696fs)
|
rs398124062
|
|
NM_004006.3(DMD):c.8087del (p.Leu2696fs)
|
|
|
NM_004006.3(DMD):c.8091_8098dup (p.Lys2700fs)
|
|
|
NM_004006.3(DMD):c.8096_8112del (p.Glu2699fs)
|
rs1556764880
|
|
NM_004006.3(DMD):c.80C>A (p.Ala27Glu)
|
rs763407275
|
|
NM_004006.3(DMD):c.8106T>C (p.Leu2702=)
|
rs2078923624
|
|
NM_004006.3(DMD):c.810T>C (p.His270=)
|
rs2147603494
|
|
NM_004006.3(DMD):c.8118A>C (p.Thr2706=)
|
|
|
NM_004006.3(DMD):c.811C>T (p.Gln271Ter)
|
rs2063890662
|
|
NM_004006.3(DMD):c.8120_8122del (p.Glu2707del)
|
|
|
NM_004006.3(DMD):c.8123C>G (p.Ala2708Gly)
|
|
|
NM_004006.3(DMD):c.8124T>C (p.Ala2708=)
|
|
|
NM_004006.3(DMD):c.8128del (p.Thr2710fs)
|
|
|
NM_004006.3(DMD):c.8136C>T (p.Ala2712=)
|
rs1603430183
|
|
NM_004006.3(DMD):c.8140G>T (p.Val2714Phe)
|
|
|
NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter)
|
rs1603430178
|
|
NM_004006.3(DMD):c.8150A>G (p.Asp2717Gly)
|
rs886043271
|
|
NM_004006.3(DMD):c.8150A>T (p.Asp2717Val)
|
rs886043271
|
|
NM_004006.3(DMD):c.8151T>C (p.Asp2717=)
|
|
|
NM_004006.3(DMD):c.8153C>T (p.Ala2718Val)
|
|
|
NM_004006.3(DMD):c.8157C>T (p.Thr2719=)
|
|
|
NM_004006.3(DMD):c.8159G>C (p.Arg2720Pro)
|
rs760495223
|
|
NM_004006.3(DMD):c.8161A>C (p.Lys2721Gln)
|
|
|
NM_004006.3(DMD):c.8172C>T (p.Leu2724=)
|
rs886044500
|
|
NM_004006.3(DMD):c.8180A>C (p.Asp2727Ala)
|
|
|
NM_004006.3(DMD):c.818A>G (p.His273Arg)
|
|
|
NM_004006.3(DMD):c.818A>T (p.His273Leu)
|
rs771696085
|
|
NM_004006.3(DMD):c.8193A>C (p.Val2731=)
|
rs1603430166
|
|
NM_004006.3(DMD):c.8193A>T (p.Val2731=)
|
rs1603430166
|
|
NM_004006.3(DMD):c.8196A>G (p.Lys2732=)
|
rs2148421887
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)
|
rs1556764743
|
|
NM_004006.3(DMD):c.8198A>G (p.Glu2733Gly)
|
|
|
NM_004006.3(DMD):c.8199G>A (p.Glu2733=)
|
|
|
NM_004006.3(DMD):c.819C>G (p.His273Gln)
|
|
|
NM_004006.3(DMD):c.81A>G (p.Ala27=)
|
rs2147754884
|
|
NM_004006.3(DMD):c.8208A>G (p.Lys2736=)
|
rs2148421793
|
|
NM_004006.3(DMD):c.8209C>T (p.Gln2737Ter)
|
rs1060502621
|
|
NM_004006.3(DMD):c.8214G>A (p.Trp2738Ter)
|
rs2078916448
|
|
NM_004006.3(DMD):c.8215C>T (p.Gln2739Ter)
|
rs2148421666
|
|
NM_004006.3(DMD):c.8217+10G>T
|
rs2148421561
|
|
NM_004006.3(DMD):c.8217+12A>G
|
|
|
NM_004006.3(DMD):c.8217+16C>T
|
|
|
NM_004006.3(DMD):c.8217+17C>T
|
|
|
NM_004006.3(DMD):c.8217+18G>A
|
|
|
NM_004006.3(DMD):c.8217+2T>G
|
rs2148421651
|
|
NM_004006.3(DMD):c.8217+32103G>A
|
|
|
NM_004006.3(DMD):c.8217+3A>C
|
rs886042918
|
|
NM_004006.3(DMD):c.8217+3_8217+6del
|
|
|
NM_004006.3(DMD):c.8217+5G>T
|
rs2148421605
|
|
NM_004006.3(DMD):c.8217+8dup
|
|
|
NM_004006.3(DMD):c.8218-11C>T
|
|
|
NM_004006.3(DMD):c.8218-12G>A
|
|
|
NM_004006.3(DMD):c.8218-23TTC[2]
|
|
|
NM_004006.3(DMD):c.8218-2A>G
|
rs886039478
|
|
NM_004006.3(DMD):c.8218-3T>C
|
|
|
NM_004006.3(DMD):c.8218-4G>A
|
|
|
NM_004006.3(DMD):c.8219A>T (p.Asp2740Val)
|
|
|
NM_004006.3(DMD):c.822T>C (p.Tyr274=)
|
|
|
NM_004006.3(DMD):c.8247A>C (p.Thr2749=)
|
rs1176596333
|
|
NM_004006.3(DMD):c.824C>A (p.Ser275Tyr)
|
|
|
NM_004006.3(DMD):c.8254T>C (p.Tyr2752His)
|
rs2071060406
|
|
NM_004006.3(DMD):c.8265G>T (p.Leu2755=)
|
|
|
NM_004006.3(DMD):c.8268T>G (p.Asp2756Glu)
|
rs2147177290
|
|
NM_004006.3(DMD):c.8273del (p.Asn2758fs)
|
rs2147177179
|
|
NM_004006.3(DMD):c.8280A>T (p.Gln2760His)
|
|
|
NM_004006.3(DMD):c.8284del (p.Ile2762fs)
|
rs2071057426
|
|
NM_004006.3(DMD):c.8284dup (p.Ile2762fs)
|
rs2071057426
|
|
NM_004006.3(DMD):c.828A>G (p.Gln276=)
|
rs2063889616
|
|
NM_004006.3(DMD):c.8292A>G (p.Arg2764=)
|
rs2147176818
|
|
NM_004006.3(DMD):c.8294C>T (p.Ser2765Phe)
|
|
|
NM_004006.3(DMD):c.8298G>A (p.Leu2766=)
|
|
|
NM_004006.3(DMD):c.8302G>A (p.Gly2768Ser)
|
|
|
NM_004006.3(DMD):c.8307C>G (p.Ser2769=)
|
|
|
NM_004006.3(DMD):c.831+12A>T
|
|
|
NM_004006.3(DMD):c.831+14A>C
|
|
|
NM_004006.3(DMD):c.831+14A>G
|
|
|
NM_004006.3(DMD):c.831+16G>A
|
|
|
NM_004006.3(DMD):c.831+1G>A
|
rs1239018406
|
|
NM_004006.3(DMD):c.831+1G>C
|
rs1239018406
|
|
NM_004006.3(DMD):c.831+1G>T
|
rs1239018406
|
|
NM_004006.3(DMD):c.831+7T>C
|
rs2147602930
|
|
NM_004006.3(DMD):c.831+8G>A
|
rs2063888451
|
|
NM_004006.3(DMD):c.8311G>T (p.Asp2771Tyr)
|
|
|
NM_004006.3(DMD):c.8315C>A (p.Ala2772Glu)
|
rs758105917
|
|
NM_004006.3(DMD):c.8319C>A (p.Val2773=)
|
|
|
NM_004006.3(DMD):c.831G>A (p.Gln277=)
|
rs398124067
|
|
NM_004006.3(DMD):c.831G>C (p.Gln277His)
|
rs398124067
|
|
NM_004006.3(DMD):c.832-11C>G
|
rs755144083
|
|
NM_004006.3(DMD):c.832-13C>G
|
rs1333642183
|
|
NM_004006.3(DMD):c.832-15A>G
|
rs72470513
|
|
NM_004006.3(DMD):c.832-17C>G
|
|
|
NM_004006.3(DMD):c.832-17C>T
|
rs72470514
|
|
NM_004006.3(DMD):c.832-17del
|
|
|
NM_004006.3(DMD):c.832-18_832-17delinsGA
|
rs2063783358
|
|
NM_004006.3(DMD):c.832-19C>G
|
|
|
NM_004006.3(DMD):c.832-19C>T
|
|
|
NM_004006.3(DMD):c.832-2A>C
|
rs2063781031
|
|
NM_004006.3(DMD):c.832-3C>A
|
rs777492476
|
|
NM_004006.3(DMD):c.832-4G>A
|
rs2147583526
|
|
NM_004006.3(DMD):c.832-6C>G
|
rs910030590
|
|
NM_004006.3(DMD):c.832-8C>G
|
|
|
NM_004006.3(DMD):c.832-8C>T
|
|
|
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)
|
rs72466575
|
|
NM_004006.3(DMD):c.8324T>C (p.Leu2775Ser)
|
rs1363319230
|
|
NM_004006.3(DMD):c.8332C>T (p.Arg2778Cys)
|
rs368974772
|
|
NM_004006.3(DMD):c.8333G>A (p.Arg2778His)
|
rs2071050854
|
|
NM_004006.3(DMD):c.8333G>T (p.Arg2778Leu)
|
|
|
NM_004006.3(DMD):c.8335T>C (p.Leu2779=)
|
|
|
NM_004006.3(DMD):c.8336T>C (p.Leu2779Ser)
|
|
|
NM_004006.3(DMD):c.833T>A (p.Ile278Asn)
|
|
|
NM_004006.3(DMD):c.8344_8359dup (p.Ser2787fs)
|
rs2147175548
|
|
NM_004006.3(DMD):c.8348A>G (p.Asn2783Ser)
|
rs760903823
|
|
NM_004006.3(DMD):c.834C>A (p.Ile278=)
|
rs2147583336
|
|
NM_004006.3(DMD):c.8350T>C (p.Phe2784Leu)
|
|
|
NM_004006.3(DMD):c.8353A>G (p.Lys2785Glu)
|
rs2071048687
|
|
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)
|
rs863225012
|
|
NM_004006.3(DMD):c.8358G>A (p.Trp2786Ter)
|
rs398124068
|
|
NM_004006.3(DMD):c.8366T>C (p.Leu2789Pro)
|
|
|
NM_004006.3(DMD):c.8368del (p.Arg2790fs)
|
|
|
NM_004006.3(DMD):c.8369G>A (p.Arg2790Gln)
|
rs2147175359
|
|
NM_004006.3(DMD):c.8374_8375del (p.Lys2792fs)
|
rs398124070
|
|
NM_004006.3(DMD):c.8378C>G (p.Ser2793Cys)
|
|
|
NM_004006.3(DMD):c.837G>T (p.Thr279=)
|
rs1800265
|
|
NM_004006.3(DMD):c.8390+11A>T
|
|
|
NM_004006.3(DMD):c.8390+12T>A
|
|
|
NM_004006.3(DMD):c.8390+12T>C
|
|
|
NM_004006.3(DMD):c.8390+1G>A
|
rs1064794569
|
|
NM_004006.3(DMD):c.8390+20A>T
|
rs779812236
|
|
NM_004006.3(DMD):c.8390+2T>G
|
|
|
NM_004006.3(DMD):c.8390G>A (p.Arg2797Lys)
|
rs1603280511
|
|
NM_004006.3(DMD):c.8391-10T>A
|
|
|
NM_004006.3(DMD):c.8391-10T>C
|
|
|
NM_004006.3(DMD):c.8391-12G>A
|
rs2147077034
|
|
NM_004006.3(DMD):c.8391-19C>T
|
|
|
NM_004006.3(DMD):c.8391-1_8391delinsAA
|
rs1060502619
|
|
NM_004006.3(DMD):c.8391-2A>G
|
rs1556665303
|
|
NM_004006.3(DMD):c.8391-3C>G
|
rs2069924068
|
|
NM_004006.3(DMD):c.8391-5T>C
|
|
|
NM_004006.3(DMD):c.8391-8T>C
|
rs2147076951
|
|
NM_004006.3(DMD):c.8391-9C>T
|
rs775338222
|
|
NM_004006.3(DMD):c.8395del (p.His2799fs)
|
rs2069923072
|
|
NM_004006.3(DMD):c.83A>C (p.Gln28Pro)
|
|
|
NM_004006.3(DMD):c.8403del (p.Ala2802fs)
|
|
|
NM_004006.3(DMD):c.8411C>A (p.Ser2804Tyr)
|
rs2147076528
|
|
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)
|
rs2147076500
|
|
NM_004006.3(DMD):c.8420G>A (p.Trp2807Ter)
|
rs2147076359
|
|
NM_004006.3(DMD):c.8421G>A (p.Trp2807Ter)
|
rs2147076330
|
|
NM_004006.3(DMD):c.8424G>A (p.Lys2808=)
|
rs2147076254
|
|
NM_004006.3(DMD):c.8440C>T (p.Leu2814=)
|
rs2147076037
|
|
NM_004006.3(DMD):c.8447A>T (p.Glu2816Val)
|
|
|
NM_004006.3(DMD):c.844C>A (p.Leu282Ile)
|
rs1188593868
|
|
NM_004006.3(DMD):c.8454G>C (p.Leu2818=)
|
rs2069917714
|
|
NM_004006.3(DMD):c.8457G>C (p.Val2819=)
|
|
|
NM_004006.3(DMD):c.8471A>G (p.Lys2824Arg)
|
|
|
NM_004006.3(DMD):c.8473G>A (p.Asp2825Asn)
|
|
|
NM_004006.3(DMD):c.8477A>G (p.Asp2826Gly)
|
|
|
NM_004006.3(DMD):c.8479G>T (p.Glu2827Ter)
|
rs2147075563
|
|
NM_004006.3(DMD):c.847G>T (p.Ala283Ser)
|
|
|
NM_004006.3(DMD):c.8489G>A (p.Arg2830Gln)
|
|
|
NM_004006.3(DMD):c.8490G>T (p.Arg2830=)
|
|
|
NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter)
|
rs753225356
|
|
NM_004006.3(DMD):c.8496A>C (p.Ala2832=)
|
rs72466574
|
|
NM_004006.3(DMD):c.8498C>T (p.Pro2833Leu)
|
|
|
NM_004006.3(DMD):c.84A>G (p.Gln28=)
|
rs1060504676
|
|
NM_004006.3(DMD):c.8500A>G (p.Ile2834Val)
|
|
|
NM_004006.3(DMD):c.8511C>T (p.Asp2837=)
|
rs2147075011
|
|
NM_004006.3(DMD):c.8513T>G (p.Phe2838Cys)
|
|
|
NM_004006.3(DMD):c.8517A>G (p.Pro2839=)
|
|
|
NM_004006.3(DMD):c.8518G>A (p.Ala2840Thr)
|
rs2147074872
|
|
NM_004006.3(DMD):c.851A>G (p.Gln284Arg)
|
|
|
NM_004006.3(DMD):c.852G>A (p.Gln284=)
|
rs2147582808
|
|
NM_004006.3(DMD):c.8530C>T (p.Gln2844Ter)
|
|
|
NM_004006.3(DMD):c.8532G>A (p.Gln2844=)
|
rs887532907
|
|
NM_004006.3(DMD):c.8534A>G (p.Asn2845Ser)
|
|
|
NM_004006.3(DMD):c.8535C>T (p.Asn2845=)
|
rs1302775057
|
|
NM_004006.3(DMD):c.8541A>C (p.Val2847=)
|
rs2147074467
|
|
NM_004006.3(DMD):c.8544T>C (p.His2848=)
|
|
|
NM_004006.3(DMD):c.8545A>G (p.Arg2849Gly)
|
|
|
NM_004006.3(DMD):c.8546G>C (p.Arg2849Thr)
|
|
|
NM_004006.3(DMD):c.8547+14A>T
|
|
|
NM_004006.3(DMD):c.8547+16G>A
|
|
|
NM_004006.3(DMD):c.8547+17C>T
|
|
|
NM_004006.3(DMD):c.8547+18C>T
|
rs755142909
|
|
NM_004006.3(DMD):c.8547+18del
|
rs764180310
|
|
NM_004006.3(DMD):c.8547+1G>A
|
rs1556665052
|
|
NM_004006.3(DMD):c.8548-10C>T
|
|
|
NM_004006.3(DMD):c.8548-15C>A
|
|
|
NM_004006.3(DMD):c.8548-20C>A
|
|
|
NM_004006.3(DMD):c.8548-3C>T
|
|
|
NM_004006.3(DMD):c.8548-4A>C
|
|
|
NM_004006.3(DMD):c.8548-9A>C
|
|
|
NM_004006.3(DMD):c.8549C>A (p.Ala2850Asp)
|
rs2068042264
|
|
NM_004006.3(DMD):c.8560G>T (p.Glu2854Ter)
|
|
|
NM_004006.3(DMD):c.8560_8561delinsAC (p.Glu2854Thr)
|
rs2149257504
|
|
NM_004006.3(DMD):c.8564T>A (p.Leu2855Ter)
|
|
|
NM_004006.3(DMD):c.8571T>G (p.Thr2857=)
|
|
|
NM_004006.3(DMD):c.8572A>T (p.Lys2858Ter)
|
rs2149257421
|
|
NM_004006.3(DMD):c.8575G>A (p.Glu2859Lys)
|
|
|
NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)
|
rs1556656851
|
|
NM_004006.3(DMD):c.8577A>G (p.Glu2859=)
|
|
|
NM_004006.3(DMD):c.8577_8578insGT (p.Pro2860fs)
|
|
|
NM_004006.3(DMD):c.8579del (p.Pro2860fs)
|
rs1556656847
|
|
NM_004006.3(DMD):c.857dup (p.Tyr286Ter)
|
rs1556929259
|
|
NM_004006.3(DMD):c.8580T>G (p.Pro2860=)
|
|
|
NM_004006.3(DMD):c.8591G>A (p.Ser2864Asn)
|
rs2149257355
|
|
NM_004006.3(DMD):c.8593A>G (p.Thr2865Ala)
|
|
|
NM_004006.3(DMD):c.8596C>G (p.Leu2866Val)
|
rs1603225951
|
|
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
|
rs2068038543
|
|
NM_004006.3(DMD):c.8598_8599insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTATCCAGGATGGTCTCGATCTCCTGAACAATCATGAGTACTCTT (p.Glu2867delinsPhePhePhePhePhePheXaaXaaXaaXaaArgProProProArgProAlaAsnPheLeuTyrPheTer)
|
rs2149257310
|
|
NM_004006.3(DMD):c.859G>C (p.Glu287Gln)
|
|
|
NM_004006.3(DMD):c.859G>T (p.Glu287Ter)
|
|
|
NM_004006.3(DMD):c.8601G>A (p.Glu2867=)
|
rs775638242
|
|
NM_004006.3(DMD):c.8604dup (p.Val2869fs)
|
rs1556656818
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
NM_004006.3(DMD):c.8609G>C (p.Arg2870Pro)
|
|
|
NM_004006.3(DMD):c.860A>G (p.Glu287Gly)
|
rs1485322486
|
|
NM_004006.3(DMD):c.8617C>T (p.Leu2873=)
|
|
|
NM_004006.3(DMD):c.8624A>G (p.Glu2875Gly)
|
|
|
NM_004006.3(DMD):c.8626C>T (p.Gln2876Ter)
|
rs2068036881
|
|
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
|
|
|
NM_004006.3(DMD):c.8632T>A (p.Leu2878Met)
|
|
|
NM_004006.3(DMD):c.8632T>G (p.Leu2878Val)
|
|
|
NM_004006.3(DMD):c.8639G>A (p.Gly2880Glu)
|
|
|
NM_004006.3(DMD):c.863G>T (p.Arg288Ile)
|
|
|
NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)
|
|
|
NM_004006.3(DMD):c.8652_8653del (p.Tyr2885fs)
|
rs398124075
|
|
NM_004006.3(DMD):c.8655C>A (p.Tyr2885Ter)
|
rs1569546174
|
|
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
|
|
|
NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)
|
rs201361100
|
|
NM_004006.3(DMD):c.8659G>A (p.Glu2887Lys)
|
|
|
NM_004006.3(DMD):c.8663C>G (p.Pro2888Arg)
|
|
|
NM_004006.3(DMD):c.8668+12T>C
|
|
|
NM_004006.3(DMD):c.8668+14G>A
|
|
|
NM_004006.3(DMD):c.8668+14G>T
|
|
|
NM_004006.3(DMD):c.8668+15A>G
|
|
|
NM_004006.3(DMD):c.8668+17C>A
|
rs750783328
|
|
NM_004006.3(DMD):c.8668+20T>C
|
rs2149256809
|
|
NM_004006.3(DMD):c.8668+7G>A
|
|
|
NM_004006.3(DMD):c.8668+9A>G
|
rs1603225742
|
|
NM_004006.3(DMD):c.8668G>A (p.Glu2890Lys)
|
rs398124076
|
|
NM_004006.3(DMD):c.8669-16C>G
|
|
|
NM_004006.3(DMD):c.8669-1G>C
|
rs886044324
|
|
NM_004006.3(DMD):c.8669-8C>T
|
rs2149254433
|
|
NM_004006.3(DMD):c.8670G>A (p.Glu2890=)
|
|
|
NM_004006.3(DMD):c.8673G>A (p.Leu2891=)
|
rs1032573101
|
|
NM_004006.3(DMD):c.8675del (p.Pro2892fs)
|
rs1556656487
|
|
NM_004006.3(DMD):c.8678C>T (p.Pro2893Leu)
|
rs2067979900
|
|
NM_004006.3(DMD):c.867T>G (p.Thr289=)
|
rs2147582365
|
|
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)
|
rs727503802
|
|
NM_004006.3(DMD):c.8683dup (p.Glu2895fs)
|
rs1556656456
|
|
NM_004006.3(DMD):c.8692C>T (p.Gln2898Ter)
|
rs2149254230
|
|
NM_004006.3(DMD):c.8694G>C (p.Gln2898His)
|
|
|
NM_004006.3(DMD):c.8697T>A (p.Asn2899Lys)
|
|
|
NM_004006.3(DMD):c.8700C>G (p.Val2900=)
|
rs2149254160
|
|
NM_004006.3(DMD):c.8702C>A (p.Thr2901Asn)
|
rs2067975834
|
|
NM_004006.3(DMD):c.8702C>T (p.Thr2901Ile)
|
|
|
NM_004006.3(DMD):c.8707C>T (p.Leu2903Phe)
|
rs1040153805
|
|
NM_004006.3(DMD):c.8709T>C (p.Leu2903=)
|
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
NM_004006.3(DMD):c.8721G>A (p.Gln2907=)
|
rs2149253975
|
|
NM_004006.3(DMD):c.8723C>T (p.Ala2908Val)
|
rs2067972248
|
|
NM_004006.3(DMD):c.8724T>C (p.Ala2908=)
|
rs2149253951
|
|
NM_004006.3(DMD):c.8727G>A (p.Glu2909=)
|
|
|
NM_004006.3(DMD):c.872C>T (p.Ser291Phe)
|
rs2147582337
|
|
NM_004006.3(DMD):c.8730G>A (p.Glu2910=)
|
rs1603223043
|
|
NM_004006.3(DMD):c.8731G>A (p.Val2911Ile)
|
rs2067969794
|
|
NM_004006.3(DMD):c.8733C>T (p.Val2911=)
|
|
|
NM_004006.3(DMD):c.8736T>C (p.Asn2912=)
|
rs2149253811
|
|
NM_004006.3(DMD):c.8738C>G (p.Thr2913Ser)
|
rs919154221
|
|
NM_004006.3(DMD):c.8740G>C (p.Glu2914Gln)
|
rs1556656366
|
|
NM_004006.3(DMD):c.8741A>G (p.Glu2914Gly)
|
|
|
NM_004006.3(DMD):c.8745G>A (p.Trp2915Ter)
|
rs761750882
|
|
NM_004006.3(DMD):c.8749A>G (p.Lys2917Glu)
|
|
|
NM_004006.3(DMD):c.874C>T (p.Pro292Ser)
|
|
|
NM_004006.3(DMD):c.8755A>T (p.Asn2919Tyr)
|
rs1603222841
|
|
NM_004006.3(DMD):c.8757C>T (p.Asn2919=)
|
rs753234741
|
|
NM_004006.3(DMD):c.8766C>A (p.Ser2922=)
|
|
|
NM_004006.3(DMD):c.8767G>A (p.Ala2923Thr)
|
|
|
NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)
|
rs868688877
|
|
NM_004006.3(DMD):c.8776C>T (p.Gln2926Ter)
|
rs2149253473
|
|
NM_004006.3(DMD):c.8778G>C (p.Gln2926His)
|
|
|
NM_004006.3(DMD):c.8781A>G (p.Arg2927=)
|
rs976735204
|
|
NM_004006.3(DMD):c.8781A>T (p.Arg2927Ser)
|
rs976735204
|
|
NM_004006.3(DMD):c.8789A>G (p.Asp2930Gly)
|
|
|
NM_004006.3(DMD):c.8793G>C (p.Glu2931Asp)
|
|
|
NM_004006.3(DMD):c.8794A>T (p.Thr2932Ser)
|
rs2067958322
|
|
NM_004006.3(DMD):c.879G>A (p.Lys293=)
|
|
|
NM_004006.3(DMD):c.8800del (p.Glu2934fs)
|
rs2149253335
|
|
NM_004006.3(DMD):c.8806C>A (p.Leu2936Ile)
|
rs146517753
|
|
NM_004006.3(DMD):c.8806C>G (p.Leu2936Val)
|
|
|
NM_004006.3(DMD):c.8815C>T (p.Leu2939Phe)
|
|
|
NM_004006.3(DMD):c.8817del (p.Gln2940fs)
|
rs1603222424
|
|
NM_004006.3(DMD):c.8819A>C (p.Gln2940Pro)
|
rs1372401429
|
|
NM_004006.3(DMD):c.881C>T (p.Pro294Leu)
|
rs2063777083
|
|
NM_004006.3(DMD):c.8820A>G (p.Gln2940=)
|
|
|
NM_004006.3(DMD):c.8821G>T (p.Glu2941Ter)
|
rs2067953453
|
|
NM_004006.3(DMD):c.8823G>A (p.Glu2941=)
|
|
|
NM_004006.3(DMD):c.8824G>C (p.Ala2942Pro)
|
rs755127162
|
|
NM_004006.3(DMD):c.8833G>T (p.Glu2945Ter)
|
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
NM_004006.3(DMD):c.883_901dup (p.Tyr301fs)
|
|
|
NM_004006.3(DMD):c.8841C>T (p.Asp2947=)
|
|
|
NM_004006.3(DMD):c.8843T>C (p.Leu2948Pro)
|
|
|
NM_004006.3(DMD):c.8844C>T (p.Leu2948=)
|
rs2149253053
|
|
NM_004006.3(DMD):c.884G>T (p.Arg295Leu)
|
|
|
NM_004006.3(DMD):c.8853C>T (p.Arg2951=)
|
rs2149252996
|
|
NM_004006.3(DMD):c.8853_8865del (p.Gln2952fs)
|
rs2149252891
|
|
NM_004006.3(DMD):c.8856A>G (p.Gln2952=)
|
rs745428533
|
|
NM_004006.3(DMD):c.8859dup (p.Glu2954Ter)
|
|
|
NM_004006.3(DMD):c.885A>G (p.Arg295=)
|
rs1290943376
|
|
NM_004006.3(DMD):c.8862G>A (p.Glu2954=)
|
rs1384583953
|
|
NM_004006.3(DMD):c.8866A>C (p.Ile2956Leu)
|
rs1032522152
|
|
NM_004006.3(DMD):c.8868C>T (p.Ile2956=)
|
rs201123444
|
|
NM_004006.3(DMD):c.8874A>G (p.Gly2958=)
|
|
|
NM_004006.3(DMD):c.8875T>A (p.Ser2959Thr)
|
|
|
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)
|
rs1556656184
|
|
NM_004006.3(DMD):c.8881C>T (p.Gln2961Ter)
|
rs1603222095
|
|
NM_004006.3(DMD):c.8884C>A (p.Pro2962Thr)
|
|
|
NM_004006.3(DMD):c.8889G>T (p.Val2963=)
|
|
|
NM_004006.3(DMD):c.888C>T (p.Phe296=)
|
rs977310228
|
|
NM_004006.3(DMD):c.8892C>T (p.Gly2964=)
|
|
|
NM_004006.3(DMD):c.8896CTC[1] (p.Leu2967del)
|
rs2149252655
|
|
NM_004006.3(DMD):c.88del (p.Ser30fs)
|
rs2093885666
|
|
NM_004006.3(DMD):c.8909C>G (p.Ser2970Cys)
|
|
|
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.891G>T (p.Lys297Asn)
|
rs1569467457
|
|
NM_004006.3(DMD):c.8922C>A (p.His2974Gln)
|
|
|
NM_004006.3(DMD):c.8922C>T (p.His2974=)
|
|
|
NM_004006.3(DMD):c.8925C>G (p.Leu2975=)
|
rs374063420
|
|
NM_004006.3(DMD):c.8929A>G (p.Lys2977Glu)
|
rs1234431569
|
|
NM_004006.3(DMD):c.8932G>A (p.Val2978Ile)
|
rs2149252455
|
|
NM_004006.3(DMD):c.8937+17T>C
|
|
|
NM_004006.3(DMD):c.8937+1G>A
|
|
|
NM_004006.3(DMD):c.8937+20T>C
|
|
|
NM_004006.3(DMD):c.8937+7T>C
|
rs2149252378
|
|
NM_004006.3(DMD):c.8937+8C>G
|
rs1057524459
|
|
NM_004006.3(DMD):c.8937+8C>T
|
|
|
NM_004006.3(DMD):c.8937G>A (p.Lys2979=)
|
rs2067940140
|
|
NM_004006.3(DMD):c.8938-13C>A
|
|
|
NM_004006.3(DMD):c.8938-18T>A
|
|
|
NM_004006.3(DMD):c.8938-18T>G
|
|
|
NM_004006.3(DMD):c.8938-3C>G
|
rs398124079
|
|
NM_004006.3(DMD):c.8938-5C>G
|
rs2149076146
|
|
NM_004006.3(DMD):c.8938-6A>G
|
rs2149076161
|
|
NM_004006.3(DMD):c.8941C>A (p.Leu2981Ile)
|
rs2149076096
|
|
NM_004006.3(DMD):c.8942T>C (p.Leu2981Pro)
|
rs1569542830
|
|
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)
|
rs128625229
|
|
NM_004006.3(DMD):c.8949A>G (p.Gly2983=)
|
|
|
NM_004006.3(DMD):c.8957C>T (p.Ala2986Val)
|
|
|
NM_004006.3(DMD):c.8958G>T (p.Ala2986=)
|
rs755815057
|
|
NM_004006.3(DMD):c.8960C>A (p.Pro2987His)
|
rs2149075905
|
|
NM_004006.3(DMD):c.8960C>T (p.Pro2987Leu)
|
rs2149075905
|
|
NM_004006.3(DMD):c.8963T>C (p.Leu2988Pro)
|
rs2065154544
|
|
NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)
|
rs2065154326
|
|
NM_004006.3(DMD):c.8970_8971del (p.Asn2991fs)
|
rs863225014
|
|
NM_004006.3(DMD):c.8973C>G (p.Asn2991Lys)
|
|
|
NM_004006.3(DMD):c.8973C>T (p.Asn2991=)
|
rs772306909
|
|
NM_004006.3(DMD):c.8984T>C (p.Val2995Ala)
|
|
|
NM_004006.3(DMD):c.8987A>G (p.Asn2996Ser)
|
|
|
NM_004006.3(DMD):c.8992del (p.Ala2999fs)
|
rs1602938385
|
|
NM_004006.3(DMD):c.8998C>T (p.Arg3000Cys)
|
|
|
NM_004006.3(DMD):c.8999G>T (p.Arg3000Leu)
|
rs772695216
|
|
NM_004006.3(DMD):c.9001C>A (p.Gln3001Lys)
|
|
|
NM_004006.3(DMD):c.9002A>C (p.Gln3001Pro)
|
|
|
NM_004006.3(DMD):c.9008C>A (p.Thr3003Asn)
|
rs769519777
|
|
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)
|
rs2065150560
|
|
NM_004006.3(DMD):c.9017G>A (p.Gly3006Asp)
|
rs1426562530
|
|
NM_004006.3(DMD):c.901T>C (p.Tyr301His)
|
rs773135408
|
|
NM_004006.3(DMD):c.9025C>A (p.Leu3009Ile)
|
rs2149075446
|
|
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys)
|
rs769658853
|
|
NM_004006.3(DMD):c.9039C>T (p.Asn3013=)
|
rs2149075331
|
|
NM_004006.3(DMD):c.903C>T (p.Tyr301=)
|
rs2147581521
|
|
NM_004006.3(DMD):c.9040dup (p.Leu3014fs)
|
rs1556641290
|
|
NM_004006.3(DMD):c.9048T>C (p.Thr3016=)
|
|
|
NM_004006.3(DMD):c.905C>T (p.Thr302Ile)
|
|
|
NM_004006.3(DMD):c.9060G>A (p.Leu3020=)
|
rs2149075169
|
|
NM_004006.3(DMD):c.9069A>G (p.Arg3023=)
|
|
|
NM_004006.3(DMD):c.906A>C (p.Thr302=)
|
rs1021496348
|
|
NM_004006.3(DMD):c.906A>G (p.Thr302=)
|
|
|
NM_004006.3(DMD):c.9075G>A (p.Lys3025=)
|
rs757517457
|
|
NM_004006.3(DMD):c.9084+10T>C
|
rs1405681920
|
|
NM_004006.3(DMD):c.9084+12G>A
|
|
|
NM_004006.3(DMD):c.9084+13T>C
|
|
|
NM_004006.3(DMD):c.9084+17C>T
|
|
|
NM_004006.3(DMD):c.9084+18A>G
|
|
|
NM_004006.3(DMD):c.9084+18_9084+20del
|
|
|
NM_004006.3(DMD):c.9084+19T>G
|
|
|
NM_004006.3(DMD):c.9084+2T>C
|
|
|
NM_004006.3(DMD):c.9084+6C>A
|
rs1839521112
|
|
NM_004006.3(DMD):c.9084+9A>G
|
rs2149074899
|
|
NM_004006.3(DMD):c.9085-18C>A
|
rs1391137517
|
|
NM_004006.3(DMD):c.9085-2A>G
|
rs2058229669
|
|
NM_004006.3(DMD):c.9085-8C>A
|
rs1055931440
|
|
NM_004006.3(DMD):c.9085-9T>C
|
|
|
NM_004006.3(DMD):c.9090C>G (p.Ala3030=)
|
|
|
NM_004006.3(DMD):c.9090C>T (p.Ala3030=)
|
rs776090499
|
|
NM_004006.3(DMD):c.9093C>A (p.Val3031=)
|
|
|
NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)
|
rs72466562
|
|
NM_004006.3(DMD):c.909G>A (p.Gln303=)
|
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
NM_004006.3(DMD):c.9104T>A (p.Val3035Asp)
|
rs1602056237
|
|
NM_004006.3(DMD):c.9111G>C (p.Gln3037His)
|
|
|
NM_004006.3(DMD):c.9113T>A (p.Leu3038Gln)
|
|
|
NM_004006.3(DMD):c.9114G>A (p.Leu3038=)
|
|
|
NM_004006.3(DMD):c.9122C>A (p.Ala3041Asp)
|
|
|
NM_004006.3(DMD):c.9126C>T (p.His3042=)
|
rs2148492049
|
|
NM_004006.3(DMD):c.9129G>A (p.Arg3043=)
|
|
|
NM_004006.3(DMD):c.912T>C (p.Ala304=)
|
|
|
NM_004006.3(DMD):c.9132C>T (p.Asp3044=)
|
rs2148492001
|
|
NM_004006.3(DMD):c.9144A>C (p.Ala3048=)
|
rs2148491824
|
|
NM_004006.3(DMD):c.9147T>C (p.Ser3049=)
|
|
|
NM_004006.3(DMD):c.9147T>G (p.Ser3049=)
|
|
|
NM_004006.3(DMD):c.9147_9148del (p.Gln3050fs)
|
|
|
NM_004006.3(DMD):c.914C>T (p.Ala305Val)
|
rs886044188
|
|
NM_004006.3(DMD):c.9150G>A (p.Gln3050=)
|
rs1352900858
|
|
NM_004006.3(DMD):c.9150G>T (p.Gln3050His)
|
rs1352900858
|
|
NM_004006.3(DMD):c.9156T>G (p.Phe3052Leu)
|
|
|
NM_004006.3(DMD):c.9156dup (p.Leu3053fs)
|
rs2148491730
|
|
NM_004006.3(DMD):c.9163+12T>C
|
|
|
NM_004006.3(DMD):c.9163+12del
|
|
|
NM_004006.3(DMD):c.9163+2T>C
|
rs1556539065
|
|
NM_004006.3(DMD):c.9164-11C>T
|
|
|
NM_004006.3(DMD):c.9164-16C>G
|
rs776000361
|
|
NM_004006.3(DMD):c.9164-2A>G
|
rs2148297581
|
|
NM_004006.3(DMD):c.9164-4T>A
|
|
|
NM_004006.3(DMD):c.9164-5T>A
|
|
|
NM_004006.3(DMD):c.9164-8_9164-6del
|
rs2148297627
|
|
NM_004006.3(DMD):c.9171C>T (p.Val3057=)
|
rs2148297447
|
|
NM_004006.3(DMD):c.9172C>T (p.Gln3058Ter)
|
|
|
NM_004006.3(DMD):c.9173A>G (p.Gln3058Arg)
|
|
|
NM_004006.3(DMD):c.9173del (p.Gln3058fs)
|
rs2148297423
|
|
NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)
|
rs1556503937
|
|
NM_004006.3(DMD):c.9184dup (p.Glu3062fs)
|
|
|
NM_004006.3(DMD):c.9186G>T (p.Glu3062Asp)
|
|
|
NM_004006.3(DMD):c.918T>A (p.Tyr306Ter)
|
rs149106712
|
|
NM_004006.3(DMD):c.9193A>G (p.Ile3065Val)
|
|
|
NM_004006.3(DMD):c.9197C>A (p.Ser3066Ter)
|
rs128626254
|
|
NM_004006.3(DMD):c.919G>T (p.Val307Phe)
|
rs2147580981
|
|
NM_004006.3(DMD):c.91A>G (p.Lys31Glu)
|
rs886044521
|
|
NM_004006.3(DMD):c.9201A>G (p.Pro3067=)
|
|
|
NM_004006.3(DMD):c.9204C>G (p.Asn3068Lys)
|
|
|
NM_004006.3(DMD):c.9204C>T (p.Asn3068=)
|
rs2148296955
|
|
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)
|
rs863225015
|
|
NM_004006.3(DMD):c.9210G>T (p.Val3070=)
|
rs147336953
|
|
NM_004006.3(DMD):c.9212C>G (p.Pro3071Arg)
|
rs2148296853
|
|
NM_004006.3(DMD):c.9213C>A (p.Pro3071=)
|
rs2148296836
|
|
NM_004006.3(DMD):c.9213C>G (p.Pro3071=)
|
|
|
NM_004006.3(DMD):c.9219_9222del (p.Tyr3072_Tyr3073insTer)
|
rs2056573240
|
|
NM_004006.3(DMD):c.9224+13T>C
|
|
|
NM_004006.3(DMD):c.9224+1G>A
|
rs1569526122
|
|
NM_004006.3(DMD):c.9224+5G>C
|
rs1556503812
|
|
NM_004006.3(DMD):c.9224+5G>T
|
rs1556503812
|
|
NM_004006.3(DMD):c.9224+6T>A
|
|
|
NM_004006.3(DMD):c.9224+7T>G
|
|
|
NM_004006.3(DMD):c.9224+8G>A
|
rs2148296496
|
|
NM_004006.3(DMD):c.9225-1G>T
|
|
|
NM_004006.3(DMD):c.9225-20C>T
|
|
|
NM_004006.3(DMD):c.9225-20_9225-17del
|
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
NM_004006.3(DMD):c.9225-287C>A
|
rs2050490437
|
|
NM_004006.3(DMD):c.9225-2A>T
|
rs2147649643
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
NM_004006.3(DMD):c.9225-9G>A
|
|
|
NM_004006.3(DMD):c.9225-9G>C
|
rs765266683
|
|
NM_004006.3(DMD):c.9229G>A (p.Glu3077Lys)
|
|
|
NM_004006.3(DMD):c.9234T>A (p.Thr3078=)
|
rs2147649466
|
|
NM_004006.3(DMD):c.9237A>G (p.Gln3079=)
|
|
|
NM_004006.3(DMD):c.9238_9241del (p.Thr3080fs)
|
rs1060502624
|
|
NM_004006.3(DMD):c.923C>T (p.Thr308Ile)
|
rs145064612
|
|
NM_004006.3(DMD):c.9249_9250delinsAC (p.Trp3083_Asp3084delinsTer)
|
|
|
NM_004006.3(DMD):c.9258C>A (p.Pro3086=)
|
rs2147649152
|
|
NM_004006.3(DMD):c.925A>T (p.Thr309Ser)
|
rs2063773668
|
|
NM_004006.3(DMD):c.9266C>T (p.Thr3089Ile)
|
rs2147649036
|
|
NM_004006.3(DMD):c.9268G>T (p.Glu3090Ter)
|
rs2147648996
|
|
NM_004006.3(DMD):c.9279G>A (p.Gln3093=)
|
rs2147648728
|
|
NM_004006.3(DMD):c.927C>T (p.Thr309=)
|
rs2147580735
|
|
NM_004006.3(DMD):c.9286+10T>A
|
rs2147648174
|
|
NM_004006.3(DMD):c.9286+11G>A
|
|
|
NM_004006.3(DMD):c.9286+11G>C
|
|
|
NM_004006.3(DMD):c.9286+12G>A
|
|
|
NM_004006.3(DMD):c.9286+14C>A
|
|
|
NM_004006.3(DMD):c.9286+15A>G
|
|
|
NM_004006.3(DMD):c.9286+16T>C
|
|
|
NM_004006.3(DMD):c.9286+17G>T
|
|
|
NM_004006.3(DMD):c.9286+2T>G
|
|
|
NM_004006.3(DMD):c.9286+3A>T
|
rs2050453653
|
|
NM_004006.3(DMD):c.9287-10C>G
|
|
|
NM_004006.3(DMD):c.9287-12C>T
|
|
|
NM_004006.3(DMD):c.9287-27_9287-2del
|
rs1064792968
|
|
NM_004006.3(DMD):c.9287-2A>T
|
rs2147071947
|
|
NM_004006.3(DMD):c.9287-4T>C
|
rs2147072069
|
|
NM_004006.3(DMD):c.9287-8C>G
|
|
|
NM_004006.3(DMD):c.9295AAT[1] (p.Asn3100del)
|
|
|
NM_004006.3(DMD):c.9299A>C (p.Asn3100Thr)
|
|
|
NM_004006.3(DMD):c.929C>A (p.Ser310Tyr)
|
rs2063773395
|
|
NM_004006.3(DMD):c.929C>T (p.Ser310Phe)
|
rs2063773395
|
|
NM_004006.3(DMD):c.93+14G>C
|
|
|
NM_004006.3(DMD):c.93+1G>A
|
rs886042604
|
|
NM_004006.3(DMD):c.93+1G>T
|
rs886042604
|
|
NM_004006.3(DMD):c.93+2T>A
|
rs1602765856
|
|
NM_004006.3(DMD):c.93+9G>A
|
|
|
NM_004006.3(DMD):c.9300T>C (p.Asn3100=)
|
rs2147071757
|
|
NM_004006.3(DMD):c.9303C>A (p.Val3101=)
|
|
|
NM_004006.3(DMD):c.9303_9304delinsAC (p.Val3101_Arg3102=)
|
rs2147071669
|
|
NM_004006.3(DMD):c.9305G>T (p.Arg3102Ile)
|
rs2147071625
|
|
NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter)
|
rs2147071577
|
|
NM_004006.3(DMD):c.9315T>C (p.Ala3105=)
|
rs2046261036
|
|
NM_004006.3(DMD):c.9315T>G (p.Ala3105=)
|
rs2046261036
|
|
NM_004006.3(DMD):c.9315_9326del (p.Tyr3106_Ala3109del)
|
rs727503800
|
|
NM_004006.3(DMD):c.9318T>A (p.Tyr3106Ter)
|
|
|
NM_004006.3(DMD):c.9324dup (p.Ala3109fs)
|
rs2147071440
|
|
NM_004006.3(DMD):c.932A>G (p.Asp311Gly)
|
rs760932600
|
|
NM_004006.3(DMD):c.932A>T (p.Asp311Val)
|
|
|
NM_004006.3(DMD):c.9336C>G (p.Leu3112=)
|
rs1602947791
|
|
NM_004006.3(DMD):c.9337C>G (p.Arg3113Gly)
|
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)
|
rs1556320083
|
|
NM_004006.3(DMD):c.9340A>C (p.Arg3114=)
|
rs2147071057
|
|
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)
|
rs200928985
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
NM_004006.3(DMD):c.9354C>T (p.Ala3118=)
|
|
|
NM_004006.3(DMD):c.9358T>A (p.Cys3120Ser)
|
|
|
NM_004006.3(DMD):c.9359G>A (p.Cys3120Tyr)
|
rs2147070854
|
|
NM_004006.3(DMD):c.9361+10G>A
|
rs2147070460
|
|
NM_004006.3(DMD):c.9361+12C>A
|
|
|
NM_004006.3(DMD):c.9361+14A>G
|
|
|
NM_004006.3(DMD):c.9361+15G>A
|
|
|
NM_004006.3(DMD):c.9361+1G>A
|
rs398124094
|
|
NM_004006.3(DMD):c.9361+1G>C
|
rs398124094
|
|
NM_004006.3(DMD):c.9361+1del
|
|
|
NM_004006.3(DMD):c.9361+6_9361+11del
|
rs1395653580
|
|
NM_004006.3(DMD):c.9361+9del
|
|
|
NM_004006.3(DMD):c.9362-10dup
|
rs2044455737
|
|
NM_004006.3(DMD):c.9362-1215A>G
|
rs2148603634
|
|
NM_004006.3(DMD):c.9362-14T>C
|
|
|
NM_004006.3(DMD):c.9362-16T>C
|
|
|
NM_004006.3(DMD):c.9362-17T>G
|
|
|
NM_004006.3(DMD):c.9362-18T>C
|
|
|
NM_004006.3(DMD):c.9362-3C>T
|
rs752816247
|
|
NM_004006.3(DMD):c.9384T>C (p.Ala3128=)
|
rs1404205189
|
|
NM_004006.3(DMD):c.9398del (p.Leu3133fs)
|
rs2148592682
|
|
NM_004006.3(DMD):c.94-12T>G
|
|
|
NM_004006.3(DMD):c.94-14T>A
|
|
|
NM_004006.3(DMD):c.94-14T>G
|
|
|
NM_004006.3(DMD):c.94-16_94-15dup
|
rs3834997
|
|
NM_004006.3(DMD):c.94-17A>T
|
|
|
NM_004006.3(DMD):c.94-17del
|
rs2149015978
|
|
NM_004006.3(DMD):c.94-19G>T
|
|
|
NM_004006.3(DMD):c.94-1del
|
rs2149015763
|
|
NM_004006.3(DMD):c.94-20T>C
|
|
|
NM_004006.3(DMD):c.94-2A>C
|
rs1603448428
|
|
NM_004006.3(DMD):c.94-3_94-2del
|
rs2149015783
|
|
NM_004006.3(DMD):c.94-4T>G
|
|
|
NM_004006.3(DMD):c.94-8A>C
|
|
|
NM_004006.3(DMD):c.94-8A>T
|
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004006.3(DMD):c.9400G>T (p.Asp3134Tyr)
|
|
|
NM_004006.3(DMD):c.9405G>A (p.Gln3135=)
|
|
|
NM_004006.3(DMD):c.940C>G (p.Arg314Gly)
|
rs764526102
|
|
NM_004006.3(DMD):c.9410A>G (p.Asn3137Ser)
|
rs779737146
|
|
NM_004006.3(DMD):c.9415A>C (p.Lys3139Gln)
|
rs1060502628
|
|
NM_004006.3(DMD):c.9415A>T (p.Lys3139Ter)
|
rs1060502628
|
|
NM_004006.3(DMD):c.9417G>A (p.Lys3139=)
|
rs2148592409
|
|
NM_004006.3(DMD):c.941G>T (p.Arg314Leu)
|
rs751164104
|
|
NM_004006.3(DMD):c.9423T>C (p.Asn3141=)
|
rs2148592359
|
|
NM_004006.3(DMD):c.9427C>G (p.Gln3143Glu)
|
rs2148592287
|
|
NM_004006.3(DMD):c.9430C>T (p.Pro3144Ser)
|
|
|
NM_004006.3(DMD):c.9432C>G (p.Pro3144=)
|
rs2148592190
|
|
NM_004006.3(DMD):c.9432C>T (p.Pro3144=)
|
rs2148592190
|
|
NM_004006.3(DMD):c.9432del (p.Met3145fs)
|
rs2044445392
|
|
NM_004006.3(DMD):c.9433A>G (p.Met3145Val)
|
rs775080631
|
|
NM_004006.3(DMD):c.9434del (p.Met3145fs)
|
rs1060502648
|
|
NM_004006.3(DMD):c.9438T>C (p.Asp3146=)
|
|
|
NM_004006.3(DMD):c.9438T>G (p.Asp3146Glu)
|
rs1602729216
|
|
NM_004006.3(DMD):c.9439A>G (p.Ile3147Val)
|
rs1602729172
|
|
NM_004006.3(DMD):c.9441C>A (p.Ile3147=)
|
rs2148592045
|
|
NM_004006.3(DMD):c.9445C>T (p.Gln3149Ter)
|
rs2148592023
|
|
NM_004006.3(DMD):c.9448A>T (p.Ile3150Phe)
|
|
|
NM_004006.3(DMD):c.9453T>A (p.Ile3151=)
|
rs2148591961
|
|
NM_004006.3(DMD):c.9453T>G (p.Ile3151Met)
|
|
|
NM_004006.3(DMD):c.9457del (p.Cys3153fs)
|
rs2148591945
|
|
NM_004006.3(DMD):c.9458G>T (p.Cys3153Phe)
|
|
|
NM_004006.3(DMD):c.9468del (p.Ile3157fs)
|
rs1602728959
|
|
NM_004006.3(DMD):c.9469A>G (p.Ile3157Val)
|
|
|
NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs)
|
rs886039532
|
|
NM_004006.3(DMD):c.947C>T (p.Pro316Leu)
|
rs1569467334
|
|
NM_004006.3(DMD):c.9481C>T (p.Leu3161=)
|
rs2044439597
|
|
NM_004006.3(DMD):c.9483G>C (p.Leu3161=)
|
|
|
NM_004006.3(DMD):c.948A>G (p.Pro316=)
|
|
|
NM_004006.3(DMD):c.9491A>T (p.Glu3164Val)
|
rs2148591470
|
|
NM_004006.3(DMD):c.9495C>T (p.His3165=)
|
|
|
NM_004006.3(DMD):c.9499A>G (p.Asn3167Asp)
|
rs781509861
|
|
NM_004006.3(DMD):c.94T>C (p.Phe32Leu)
|
|
|
NM_004006.3(DMD):c.9504G>A (p.Leu3168=)
|
rs185247491
|
|
NM_004006.3(DMD):c.9510C>A (p.Asn3170Lys)
|
|
|
NM_004006.3(DMD):c.9515C>A (p.Pro3172His)
|
|
|
NM_004006.3(DMD):c.9519C>A (p.Leu3173=)
|
rs2148591143
|
|
NM_004006.3(DMD):c.9519C>G (p.Leu3173=)
|
rs2148591143
|
|
NM_004006.3(DMD):c.9519_9520del (p.Cys3174fs)
|
rs2148591114
|
|
NM_004006.3(DMD):c.9533G>C (p.Cys3178Ser)
|
rs2044432429
|
|
NM_004006.3(DMD):c.9535C>T (p.Leu3179=)
|
rs377405269
|
|
NM_004006.3(DMD):c.9540C>T (p.Asn3180=)
|
rs2148590907
|
|
NM_004006.3(DMD):c.9549G>A (p.Leu3183=)
|
rs2148590839
|
|
NM_004006.3(DMD):c.9549G>C (p.Leu3183=)
|
rs2148590839
|
|
NM_004006.3(DMD):c.9552T>C (p.Asn3184=)
|
rs2148590775
|
|
NM_004006.3(DMD):c.9553G>A (p.Val3185Ile)
|
rs1556280685
|
|
NM_004006.3(DMD):c.9557_9558del (p.Val3185_Tyr3186insTer)
|
|
|
NM_004006.3(DMD):c.9562dup (p.Thr3188fs)
|
|
|
NM_004006.3(DMD):c.9563+1215A>G
|
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
NM_004006.3(DMD):c.9563+2T>A
|
rs1602727611
|
|
NM_004006.3(DMD):c.9563+5G>A
|
|
|
NM_004006.3(DMD):c.9563+5G>C
|
rs764119686
|
|
NM_004006.3(DMD):c.9564-11_9564-3del
|
|
|
NM_004006.3(DMD):c.9564-15G>A
|
|
|
NM_004006.3(DMD):c.9564-19C>T
|
|
|
NM_004006.3(DMD):c.9564-1G>A
|
rs398124096
|
|
NM_004006.3(DMD):c.9564-20G>C
|
|
|
NM_004006.3(DMD):c.9564-3T>A
|
|
|
NM_004006.3(DMD):c.9564-3T>C
|
rs1556257538
|
|
NM_004006.3(DMD):c.9564-4A>T
|
|
|
NM_004006.3(DMD):c.9564-6T>C
|
rs876657453
|
|
NM_004006.3(DMD):c.9564-7A>T
|
rs1162179227
|
|
NM_004006.3(DMD):c.9565G>A (p.Gly3189Arg)
|
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004006.3(DMD):c.956C>A (p.Ser319Ter)
|
|
|
NM_004006.3(DMD):c.9577A>C (p.Arg3193=)
|
rs1330395943
|
|
NM_004006.3(DMD):c.957A>T (p.Ser319=)
|
|
|
NM_004006.3(DMD):c.9583C>A (p.Arg3195Ser)
|
|
|
NM_004006.3(DMD):c.9583C>T (p.Arg3195Cys)
|
rs2148564609
|
|
NM_004006.3(DMD):c.958C>T (p.Gln320Ter)
|
|
|
NM_004006.3(DMD):c.9591G>A (p.Leu3197=)
|
|
|
NM_004006.3(DMD):c.9594T>A (p.Ser3198=)
|
rs2148564482
|
|
NM_004006.3(DMD):c.95T>C (p.Phe32Ser)
|
rs2080986752
|
|
NM_004006.3(DMD):c.960+10C>T
|
rs2147579685
|
|
NM_004006.3(DMD):c.960+11A>G
|
rs1057522246
|
|
NM_004006.3(DMD):c.960+15A>G
|
|
|
NM_004006.3(DMD):c.960+18C>G
|
|
|
NM_004006.3(DMD):c.960+3C>G
|
|
|
NM_004006.3(DMD):c.9602C>G (p.Thr3201Ser)
|
|
|
NM_004006.3(DMD):c.9603T>C (p.Thr3201=)
|
rs2148564388
|
|
NM_004006.3(DMD):c.9603T>G (p.Thr3201=)
|
|
|
NM_004006.3(DMD):c.960G>A (p.Gln320=)
|
rs772656026
|
|
NM_004006.3(DMD):c.960G>T (p.Gln320His)
|
|
|
NM_004006.3(DMD):c.961-11_961-7del
|
|
|
NM_004006.3(DMD):c.961-12T>A
|
|
|
NM_004006.3(DMD):c.961-14A>G
|
|
|
NM_004006.3(DMD):c.961-1G>A
|
rs1602469384
|
|
NM_004006.3(DMD):c.961-1G>C
|
rs1602469384
|
|
NM_004006.3(DMD):c.961-20C>A
|
rs2146836340
|
|
NM_004006.3(DMD):c.961-2A>G
|
rs2146836134
|
|
NM_004006.3(DMD):c.961-3C>T
|
|
|
NM_004006.3(DMD):c.961-4G>A
|
|
|
NM_004006.3(DMD):c.961-4G>T
|
rs772215948
|
|
NM_004006.3(DMD):c.961-5831C>A
|
rs398124099
|
|
NM_004006.3(DMD):c.961-5831C>G
|
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
NM_004006.3(DMD):c.961-6G>A
|
rs886042535
|
|
NM_004006.3(DMD):c.961-6G>T
|
|
|
NM_004006.3(DMD):c.9616C>T (p.Leu3206=)
|
|
|
NM_004006.3(DMD):c.9617T>G (p.Leu3206Arg)
|
rs2148564338
|
|
NM_004006.3(DMD):c.9621T>A (p.Cys3207Ter)
|
rs1057524037
|
|
NM_004006.3(DMD):c.9624del (p.Ala3209fs)
|
rs2148564212
|
|
NM_004006.3(DMD):c.9633G>A (p.Leu3211=)
|
rs2148564156
|
|
NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)
|
rs1569463953
|
|
NM_004006.3(DMD):c.9634del (p.Glu3212fs)
|
|
|
NM_004006.3(DMD):c.9645C>G (p.Tyr3215Ter)
|
rs2148563935
|
|
NM_004006.3(DMD):c.9649+1G>A
|
rs1556256329
|
|
NM_004006.3(DMD):c.9649+2dup
|
rs1602695597
|
|
NM_004006.3(DMD):c.9649+5G>A
|
|
|
NM_004006.3(DMD):c.9649+5G>C
|
rs1602695527
|
|
NM_004006.3(DMD):c.9649+7C>T
|
rs2044091108
|
|
NM_004006.3(DMD):c.9650-12C>T
|
|
|
NM_004006.3(DMD):c.9650-15C>A
|
|
|
NM_004006.3(DMD):c.9650-18T>G
|
|
|
NM_004006.3(DMD):c.9650-20A>G
|
|
|
NM_004006.3(DMD):c.9650-4_9655del
|
rs1060502653
|
|
NM_004006.3(DMD):c.9650A>G (p.Tyr3217Cys)
|
rs2148542082
|
|
NM_004006.3(DMD):c.9663A>G (p.Gln3221=)
|
|
|
NM_004006.3(DMD):c.9668_9669insG (p.Ser3224fs)
|
rs2148541841
|
|
NM_004006.3(DMD):c.9672T>C (p.Ser3224=)
|
rs1060504679
|
|
NM_004006.3(DMD):c.9677C>T (p.Thr3226Ile)
|
rs755943193
|
|
NM_004006.3(DMD):c.967G>A (p.Glu323Lys)
|
|
|
NM_004006.3(DMD):c.9680G>A (p.Gly3227Glu)
|
|
|
NM_004006.3(DMD):c.9693G>A (p.Gln3231=)
|
|
|
NM_004006.3(DMD):c.9699G>A (p.Arg3233=)
|
rs2148541409
|
|
NM_004006.3(DMD):c.9700C>G (p.Leu3234Val)
|
|
|
NM_004006.3(DMD):c.970G>T (p.Ala324Ser)
|
|
|
NM_004006.3(DMD):c.9711T>C (p.Leu3237=)
|
rs2148541324
|
|
NM_004006.3(DMD):c.9712_9713insA (p.Leu3238fs)
|
|
|
NM_004006.3(DMD):c.9717T>C (p.His3239=)
|
rs2148541229
|
|
NM_004006.3(DMD):c.971C>A (p.Ala324Asp)
|
|
|
NM_004006.3(DMD):c.971del (p.Ala324fs)
|
rs1602469251
|
|
NM_004006.3(DMD):c.972T>A (p.Ala324=)
|
rs2059702195
|
|
NM_004006.3(DMD):c.972T>C (p.Ala324=)
|
|
|
NM_004006.3(DMD):c.972T>G (p.Ala324=)
|
|
|
NM_004006.3(DMD):c.9730A>C (p.Ile3244Leu)
|
|
|
NM_004006.3(DMD):c.9739C>T (p.Gln3247Ter)
|
rs2148541048
|
|
NM_004006.3(DMD):c.9740A>G (p.Gln3247Arg)
|
|
|
NM_004006.3(DMD):c.9742T>C (p.Leu3248=)
|
|
|
NM_004006.3(DMD):c.9749_9767dup (p.Asn3258fs)
|
rs2148540742
|
|
NM_004006.3(DMD):c.9753T>C (p.Val3251=)
|
|
|
NM_004006.3(DMD):c.9756A>G (p.Ala3252=)
|
rs2148540830
|
|
NM_004006.3(DMD):c.9759C>T (p.Ser3253=)
|
rs2148540799
|
|
NM_004006.3(DMD):c.9765G>A (p.Gly3255=)
|
rs2148540768
|
|
NM_004006.3(DMD):c.9767G>A (p.Gly3256Asp)
|
rs2148540693
|
|
NM_004006.3(DMD):c.9768C>T (p.Gly3256=)
|
|
|
NM_004006.3(DMD):c.9769A>G (p.Ser3257Gly)
|
rs2148540671
|
|
NM_004006.3(DMD):c.976G>T (p.Glu326Ter)
|
rs2059702093
|
|
NM_004006.3(DMD):c.9774C>A (p.Asn3258Lys)
|
|
|
NM_004006.3(DMD):c.9786T>C (p.Ser3262=)
|
rs1052771260
|
|
NM_004006.3(DMD):c.9789C>A (p.Val3263=)
|
|
|
NM_004006.3(DMD):c.9798C>T (p.Cys3266=)
|
|
|
NM_004006.3(DMD):c.9802del (p.Gln3268fs)
|
rs2148540548
|
|
NM_004006.3(DMD):c.9807+11C>T
|
|
|
NM_004006.3(DMD):c.9807+13C>T
|
|
|
NM_004006.3(DMD):c.9807+1G>A
|
rs1569460610
|
|
NM_004006.3(DMD):c.9807+1G>C
|
rs1569460610
|
|
NM_004006.3(DMD):c.9807+2714C>T
|
|
|
NM_004006.3(DMD):c.9807+2T>A
|
|
|
NM_004006.3(DMD):c.9807+2T>G
|
rs2043792360
|
|
NM_004006.3(DMD):c.9807+5G>A
|
rs1569460607
|
|
NM_004006.3(DMD):c.9807+5G>C
|
rs1569460607
|
|
NM_004006.3(DMD):c.9807+8A>G
|
rs2043791196
|
|
NM_004006.3(DMD):c.9807+8A>T
|
|
|
NM_004006.3(DMD):c.9807+9T>C
|
|
|
NM_004006.3(DMD):c.9808-11T>C
|
|
|
NM_004006.3(DMD):c.9808-13C>T
|
|
|
NM_004006.3(DMD):c.9808-15C>A
|
rs925953969
|
|
NM_004006.3(DMD):c.9808-17C>T
|
|
|
NM_004006.3(DMD):c.9808-19C>T
|
|
|
NM_004006.3(DMD):c.9808-1G>A
|
rs2148335739
|
|
NM_004006.3(DMD):c.9808-1G>T
|
|
|
NM_004006.3(DMD):c.9808-4G>T
|
|
|
NM_004006.3(DMD):c.9810TAA[4] (p.Asn3272dup)
|
rs2148335593
|
|
NM_004006.3(DMD):c.9812A>G (p.Asn3271Ser)
|
rs980324619
|
|
NM_004006.3(DMD):c.9826A>G (p.Ile3276Val)
|
rs2148335494
|
|
NM_004006.3(DMD):c.9829G>A (p.Glu3277Lys)
|
|
|
NM_004006.3(DMD):c.9829G>T (p.Glu3277Ter)
|
rs1602456175
|
|
NM_004006.3(DMD):c.982A>G (p.Lys328Glu)
|
|
|
NM_004006.3(DMD):c.9833C>T (p.Ala3278Val)
|
rs2041311291
|
|
NM_004006.3(DMD):c.9837C>T (p.Ala3279=)
|
rs1602456031
|
|
NM_004006.3(DMD):c.9846A>G (p.Leu3282=)
|
|
|
NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)
|
rs398124104
|
|
NM_004006.3(DMD):c.9852G>A (p.Trp3284Ter)
|
rs2041309291
|
|
NM_004006.3(DMD):c.985T>A (p.Ser329Thr)
|
rs756590471
|
|
NM_004006.3(DMD):c.985T>C (p.Ser329Pro)
|
rs756590471
|
|
NM_004006.3(DMD):c.9865C>T (p.Pro3289Ser)
|
rs2041307409
|
|
NM_004006.3(DMD):c.9867C>G (p.Pro3289=)
|
|
|
NM_004006.3(DMD):c.9868C>T (p.Gln3290Ter)
|
rs2041306808
|
|
NM_004006.3(DMD):c.986C>T (p.Ser329Leu)
|
rs2059701389
|
|
NM_004006.3(DMD):c.987A>T (p.Ser329=)
|
rs1350663706
|
|
NM_004006.3(DMD):c.9881_9890del (p.Trp3294fs)
|
rs1556046080
|
|
NM_004006.3(DMD):c.9884dup (p.Pro3296fs)
|
|
|
NM_004006.3(DMD):c.9885G>A (p.Leu3295=)
|
rs754265253
|
|
NM_004006.3(DMD):c.9885G>T (p.Leu3295=)
|
|
|
NM_004006.3(DMD):c.9888C>G (p.Pro3296=)
|
rs146543659
|
|
NM_004006.3(DMD):c.9889G>A (p.Val3297Ile)
|
rs2148334596
|
|
NM_004006.3(DMD):c.9896A>G (p.His3299Arg)
|
rs398124107
|
|
NM_004006.3(DMD):c.9897_9898del (p.His3299fs)
|
rs2041303734
|
|
NM_004006.3(DMD):c.9899G>A (p.Arg3300Lys)
|
|
|
NM_004006.3(DMD):c.9900A>G (p.Arg3300=)
|
|
|
NM_004006.3(DMD):c.9921C>T (p.Ala3307=)
|
rs2148334246
|
|
NM_004006.3(DMD):c.9926A>G (p.His3309Arg)
|
rs398124108
|
|
NM_004006.3(DMD):c.9928C>T (p.Gln3310Ter)
|
rs104894789
|
|
NM_004006.3(DMD):c.9929A>G (p.Gln3310Arg)
|
rs886044071
|
|
NM_004006.3(DMD):c.992G>T (p.Gly331Val)
|
rs2146835386
|
|
NM_004006.3(DMD):c.9932C>A (p.Ala3311Asp)
|
rs2148334111
|
|
NM_004006.3(DMD):c.9935A>C (p.Lys3312Thr)
|
rs2041299896
|
|
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
|
|
|
NM_004006.3(DMD):c.9938G>A (p.Cys3313Tyr)
|
rs886043597
|
|
NM_004006.3(DMD):c.9938G>T (p.Cys3313Phe)
|
rs886043597
|
|
NM_004006.3(DMD):c.993C>G (p.Gly331=)
|
|
|
NM_004006.3(DMD):c.9947G>C (p.Cys3316Ser)
|
|
|
NM_004006.3(DMD):c.9955T>C (p.Cys3319Arg)
|
rs886044217
|
|
NM_004006.3(DMD):c.9956G>T (p.Cys3319Phe)
|
rs2041296375
|
|
NM_004006.3(DMD):c.9960A>G (p.Pro3320=)
|
rs2148333709
|
|
NM_004006.3(DMD):c.9974+13A>C
|
|
|
NM_004006.3(DMD):c.9974+14_9974+15insT
|
|
|
NM_004006.3(DMD):c.9974+17_9974+18insC
|
|
|
NM_004006.3(DMD):c.9974+18A>C
|
|
|
NM_004006.3(DMD):c.9974+18A>G
|
|
|
NM_004006.3(DMD):c.9974+18_9974+19insG
|
|
|
NM_004006.3(DMD):c.9974+19_9974+20insC
|
rs2148333220
|
|
NM_004006.3(DMD):c.9974+19_9974+20insG
|
|
|
NM_004006.3(DMD):c.9974+2T>A
|
rs2148333619
|
|
NM_004006.3(DMD):c.9974+2T>G
|
|
|
NM_004006.3(DMD):c.9974+5T>C
|
|
|
NM_004006.3(DMD):c.9974+6A>C
|
|
|
NM_004006.3(DMD):c.9974+7G>A
|
rs2041294009
|
|
NM_004006.3(DMD):c.9974G>C (p.Arg3325Thr)
|
rs398124109
|
|
NM_004006.3(DMD):c.9975-10T>C
|
rs2148312424
|
|
NM_004006.3(DMD):c.9975-1G>A
|
rs1556040444
|
|
NM_004006.3(DMD):c.9975-2A>C
|
rs886044502
|
|
NM_004006.3(DMD):c.9975-8T>C
|
|
|
NM_004006.3(DMD):c.9975-9C>T
|
rs2148312376
|
|
NM_004006.3(DMD):c.9975G>T (p.Arg3325Ser)
|
|
|
NM_004006.3(DMD):c.9978C>T (p.Tyr3326=)
|
|
|
NM_004006.3(DMD):c.9981G>A (p.Arg3327=)
|
rs2148312076
|
|
NM_004006.3(DMD):c.9992A>G (p.His3331Arg)
|
|
|
NM_004006.3(DMD):c.9993C>T (p.His3331=)
|
|
|
NM_004006.3(DMD):c.999A>C (p.Ser333=)
|
|
|
NM_004006.3(DMD):c.99dup (p.Lys34fs)
|
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
Single allele
|
|
|