ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Natera, Inc.

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4123
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_004006.3(DMD):c.1993-37T>G rs115571 0.71699
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_004006.3(DMD):c.9361+138T>C rs10127360 0.51217
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_004006.3(DMD):c.9563+1150A>G rs10482232 0.29944
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_004006.3(DMD):c.6439-143G>A rs3761605 0.29636
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_004006.3(DMD):c.9225-675A>G rs12015000 0.25497
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln) rs1800275 0.21153
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713 0.20353
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_004006.3(DMD):c.6913-114A>T rs45618538 0.18012
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_004006.3(DMD):c.9225-138A>G rs17338423 0.13760
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.6614+3294G>A rs5972467 0.12147
NM_004006.3(DMD):c.6290+27T>A rs3788896 0.12062
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_004006.3(DMD):c.93+5601G>T rs34892244 0.10143
NM_004006.3(DMD):c.93+5593T>A rs34352997 0.10114
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_004006.3(DMD):c.1704+51T>C rs5927082 0.09293
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_001164508.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687 0.08083
NM_004006.3(DMD):c.9225-603T>G rs111482252 0.07490
NM_004006.3(DMD):c.1483-72T>C rs17309542 0.07230
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_004006.3(DMD):c.8669-75C>G rs17338583 0.06936
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_024120.5(NDUFAF5):c.849G>A (p.Ala283=) rs34901599 0.04132
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_004006.3(DMD):c.3432+2089A>T rs147073545 0.03762
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
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_001164508.2(NEB):c.21382T>C (p.Leu7128=) rs114218081 0.02752
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_004006.3(DMD):c.31+292A>C rs114046794 0.02592
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_004006.3(DMD):c.-8T>A rs113726961 0.02450
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
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_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_004006.3(DMD):c.93+5655C>T rs145403882 0.01278
NM_004006.3(DMD):c.9085-15497G>C rs73466395 0.01272
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_004006.3(DMD):c.93+5493T>A rs143247129 0.01256
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_004006.3(DMD):c.9225-669G>A rs139193266 0.01156
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_001164508.2(NEB):c.8646C>T (p.Asp2882=) rs61730773 0.01142
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727 0.01117
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
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_001164508.2(NEB):c.5763+4C>T rs78916288 0.01075
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_004006.3(DMD):c.7310-36C>T rs72466586 0.01045
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_004006.3(DMD):c.8668+19A>G rs148241865 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127 0.00920
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=) rs80320923 0.00914
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=) rs16830216 0.00914
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=) rs147569843 0.00870
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=) rs145052299 0.00870
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_004006.3(DMD):c.-419A>G rs150939177 0.00821
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004006.3(DMD):c.1332-18C>T rs193153078 0.00806
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_004006.3(DMD):c.*38G>A rs16989352 0.00785
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_000023.4(SGCA):c.*10C>G rs60300808 0.00619
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=) rs139963368 0.00547
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=) rs35273905 0.00526
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=) rs140688592 0.00517
NM_004006.3(DMD):c.9225-301T>C rs73617063 0.00503
NM_004006.3(DMD):c.9225-645T>C rs73617065 0.00503
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00436
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_001164508.2(NEB):c.2640C>T (p.Arg880=) rs114959904 0.00433
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883 0.00426
NM_001079802.2(FKTN):c.648-1278A>C rs181901044 0.00425
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_001164508.2(NEB):c.1981C>T (p.Leu661=) rs146460133 0.00395
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_001164508.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357 0.00379
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_000070.3(CAPN3):c.1537-33G>A rs143412460 0.00363
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) rs3732309 0.00351
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848 0.00332
NM_004006.3(DMD):c.3276+17A>T rs184220727 0.00329
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_004006.3(DMD):c.8218-798G>A rs149479376 0.00299
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_004006.3(DMD):c.9085-15539G>A rs143848649 0.00271
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=) rs149162847 0.00217
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_001164508.2(NEB):c.10452+9A>G rs117270796 0.00190
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=) rs117018177 0.00190
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) rs118191309 0.00171
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=) rs187211085 0.00156
NM_001130987.2(DYSF):c.4756-3C>T rs371227553 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_004006.3(DMD):c.2293-15G>C rs369384547 0.00149
NM_004006.3(DMD):c.4344+39T>A rs72468644 0.00149
NM_001164508.2(NEB):c.16449C>T (p.Ser5483=) rs546992311 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00143
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001164508.2(NEB):c.24874-8C>T rs200902944 0.00134
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=) rs369897667 0.00125
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
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_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001164508.2(NEB):c.12640-4A>G rs549888246 0.00122
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_001164508.2(NEB):c.17601G>A (p.Val5867=) rs58263509 0.00118
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001164508.2(NEB):c.469A>G (p.Ile157Val) rs188718613 0.00115
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_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys) rs147117631 0.00111
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512 0.00107
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=) rs200624735 0.00101
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053 0.00083
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) rs148095660 0.00081
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960 0.00079
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_004006.3(DMD):c.4125T>C (p.Thr1375=) rs144329742 0.00069
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855 0.00066
NM_004006.3(DMD):c.1812C>T (p.Ala604=) rs140919039 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) rs138399787 0.00063
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) rs763248287 0.00058
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=) rs186244044 0.00058
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=) rs183998406 0.00058
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_025215.6(PUS1):c.1047C>T (p.Asn349=) rs145061048 0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) rs551975117 0.00056
NM_004006.3(DMD):c.8436T>C (p.Leu2812=) rs139365076 0.00056
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_004006.3(DMD):c.5487A>G (p.Gln1829=) rs150787752 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
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_000070.3(CAPN3):c.2380+19C>T rs141234995 0.00053
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020 0.00053
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982 0.00049
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile) rs138172448 0.00048
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001164508.2(NEB):c.19315-10T>C rs201473873 0.00048
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647 0.00048
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778 0.00046
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys) rs139395045 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00043
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
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_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001164508.2(NEB):c.5031+4T>C rs370999716 0.00041
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) rs777564992 0.00041
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe) rs138880406 0.00039
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_000023.4(SGCA):c.1047C>T (p.Ala349=) rs199518562 0.00038
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600 0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259 0.00036
NM_000231.3(SGCG):c.716C>T (p.Ala239Val) rs149086397 0.00036
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138 0.00036
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_004006.3(DMD):c.9564-5A>G rs201390145 0.00035
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432 0.00034
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu) rs149408006 0.00034
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=) rs35946547 0.00034
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu) rs185496567 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00033
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_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser) rs189541265 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_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000231.3(SGCG):c.8G>A (p.Arg3His) rs35105771 0.00031
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=) rs146498307 0.00031
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro) rs372800812 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_004006.3(DMD):c.5586+18A>G rs189522063 0.00031
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975 0.00031
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001164508.2(NEB):c.12597G>A (p.Pro4199=) rs763783436 0.00030
NM_001953.5(TYMP):c.1159+5G>A rs748559929 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149 0.00029
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 0.00029
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=) rs185169373 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_004553.6(NDUFS6):c.257C>T (p.Ala86Val) rs192286856 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys) rs148404730 0.00027
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=) rs372540293 0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_004006.3(DMD):c.2380+10C>T rs372330460 0.00027
NM_004006.3(DMD):c.9804A>G (p.Gln3268=) rs12690372 0.00027
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala) rs540292629 0.00026
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp) rs202145313 0.00026
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462 0.00026
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_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=) rs376199241 0.00025
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu) rs370206339 0.00025
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys) rs146253209 0.00024
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala) rs200304547 0.00024
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu) rs202191938 0.00024
NM_004006.3(DMD):c.2884C>G (p.Leu962Val) rs150959827 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
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_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile) rs200759807 0.00022
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys) rs199718635 0.00022
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
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_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00021
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00021
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr) rs191722579 0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val) rs538524863 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
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_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_005476.7(GNE):c.1933+3G>A rs370730412 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
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_000023.4(SGCA):c.37+10G>T rs200626376 0.00019
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr) rs745746091 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794 0.00019
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His) rs377748897 0.00019
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 0.00019
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_017739.4(POMGNT1):c.120+3A>G rs543271070 0.00019
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388 0.00018
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) rs199677396 0.00018
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=) rs137855767 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00018
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His) rs149596493 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641 0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
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_024120.5(NDUFAF5):c.245G>A (p.Arg82His) rs376456360 0.00018
NM_000023.4(SGCA):c.172G>C (p.Val58Leu) rs141953249 0.00017
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301 0.00017
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys) rs200555425 0.00017
NM_001164508.2(NEB):c.6807+10T>C rs375723456 0.00017
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser) rs370615288 0.00017
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_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys) rs145252144 0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000231.3(SGCG):c.196-3C>T rs765273430 0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr) rs371593605 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=) rs551942312 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581 0.00016
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086 0.00016
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val) rs375646776 0.00016
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys) rs765806782 0.00016
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp) rs200165006 0.00016
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707 0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728 0.00016
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) rs1013301590 0.00016
NM_004006.3(DMD):c.8974G>A (p.Val2992Met) rs201691420 0.00016
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992 0.00015
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr) rs371362494 0.00015
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met) rs374961597 0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu) rs376609115 0.00015
NM_001164508.2(NEB):c.4305G>A (p.Val1435=) rs111241479 0.00015
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.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004006.3(DMD):c.9649+8G>A rs373703618 0.00015
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp) rs200363064 0.00015
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000231.3(SGCG):c.438C>T (p.Asp146=) rs144497243 0.00014
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu) rs143110015 0.00014
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816 0.00014
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val) rs369957704 0.00014
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser) rs376194864 0.00014
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 0.00014
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102 0.00014
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met) rs370810654 0.00014
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn) rs562175196 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_004006.3(DMD):c.1603-4C>A rs377223643 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.4876G>A (p.Val1626Met) rs776998846 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_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) rs200199681 0.00014
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp) rs373512834 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000070.3(CAPN3):c.897C>A (p.Leu299=) rs370313391 0.00013
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339 0.00013
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His) rs185891286 0.00013
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala) rs1358370392 0.00013
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) rs375068646 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=) rs376655029 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu) rs373133009 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
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.7244G>A (p.Arg2415His) rs373749120 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.8706G>A (p.Arg2902=) rs899851642 0.00013
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr) rs201637813 0.00013
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=) rs144260889 0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met) rs376358025 0.00012
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe) rs367901920 0.00012
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545 0.00012
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 0.00012
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737 0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile) rs372762302 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.780A>G (p.Pro260=) rs80255720 0.00012
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=) rs377015178 0.00012
NM_001164508.2(NEB):c.853A>G (p.Ile285Val) rs773114380 0.00012
NM_004006.3(DMD):c.2352T>C (p.Ala784=) rs142006072 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_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=) rs370231427 0.00011
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092 0.00011
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala) rs775742866 0.00011
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser) rs377071680 0.00011
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile) rs371609233 0.00011
NM_001130987.2(DYSF):c.2864+8G>A rs371686795 0.00011
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=) rs144936357 0.00011
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 0.00011
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr) rs376277385 0.00011
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683 0.00011
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His) rs200195063 0.00011
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732 0.00011
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His) rs377443184 0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val) rs551649582 0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly) rs928041091 0.00011
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val) rs370172690 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.6807+5A>G rs746481799 0.00011
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016 0.00011
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His) rs111841612 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_004006.3(DMD):c.*15A>G rs149405184 0.00011
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr) rs186444670 0.00011
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) rs201860210 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn) rs146924667 0.00010
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000232.5(SGCB):c.152G>A (p.Arg51His) rs143751283 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054 0.00010
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met) rs144422408 0.00010
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449 0.00010
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
NM_001164508.2(NEB):c.1182A>C (p.Thr394=) rs186233985 0.00010
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys) rs374390581 0.00010
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His) rs773239926 0.00010
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro) rs768813228 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=) rs369183371 0.00010
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) rs563896790 0.00010
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=) rs779321695 0.00010
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=) rs765208384 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=) rs755883171 0.00010
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn) rs764110936 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 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.5026-7A>G rs398123976 0.00010
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser) rs146420425 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_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_025215.6(PUS1):c.111C>T (p.Pro37=) rs543944505 0.00010
NM_000023.4(SGCA):c.155T>G (p.Val52Gly) rs148132791 0.00009
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537 0.00009
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg) rs747461807 0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00009
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu) rs747399155 0.00009
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys) rs148041867 0.00009
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00009
NM_000231.3(SGCG):c.506-7T>G rs774582375 0.00009
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr) rs562925562 0.00009
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp) rs371841411 0.00009
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=) rs149979662 0.00009
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) rs143775913 0.00009
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815 0.00009
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716 0.00009
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476 0.00009
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679 0.00009
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn) rs766876980 0.00009
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=) rs369429046 0.00009
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr) rs746008098 0.00009
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=) rs367638234 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn) rs200672818 0.00009
NM_001164508.2(NEB):c.17844+7C>T rs373259828 0.00009
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile) rs370695020 0.00009
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln) rs575958060 0.00009
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser) rs369602540 0.00009
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys) rs372117694 0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His) rs139333406 0.00009
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579 0.00009
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=) rs373353657 0.00009
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053 0.00009
NM_001164508.2(NEB):c.9345C>T (p.His3115=) rs367739638 0.00009
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164 0.00009
NM_004006.3(DMD):c.2557T>C (p.Leu853=) rs150387101 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.530+7A>T rs72470523 0.00009
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln) rs1023328955 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_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804 0.00009
NM_017739.4(POMGNT1):c.1285-6C>T rs377292905 0.00009
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=) rs774008151 0.00009
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_000023.4(SGCA):c.983A>T (p.Asp328Val) rs966135192 0.00008
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met) rs553169803 0.00008
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001130987.2(DYSF):c.1449+3G>A rs764771218 0.00008
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met) rs771062534 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) rs763456750 0.00008
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564 0.00008
NM_001130987.2(DYSF):c.4464+7T>C rs369949055 0.00008
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827 0.00008
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu) rs147876220 0.00008
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=) rs759637718 0.00008
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027 0.00008
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305 0.00008
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684 0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val) rs541672313 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=) rs140558263 0.00008
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137 0.00008
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001164508.2(NEB):c.9619-9C>T rs778009768 0.00008
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala) rs373898385 0.00008
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 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_005476.7(GNE):c.1412-5C>T rs369078814 0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408 0.00008
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_000023.4(SGCA):c.312+6G>A rs371433770 0.00007
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln) rs117672945 0.00007
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile) rs140660066 0.00007
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser) rs200485658 0.00007
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688 0.00007
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu) rs776724595 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) rs371816429 0.00007
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.105G>A (p.Thr35=) rs368075131 0.00007
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=) rs528974814 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.16875C>T (p.Val5625=) rs757882235 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met) rs767584361 0.00007
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr) rs536677256 0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His) rs546250852 0.00007
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831 0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His) rs373778424 0.00007
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00007
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) rs748898877 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_004006.3(DMD):c.2060C>T (p.Thr687Met) rs751543064 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.4721G>A (p.Arg1574His) rs755206033 0.00007
NM_004006.3(DMD):c.5177A>G (p.Asp1726Gly) rs372917491 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_004553.6(NDUFS6):c.229G>A (p.Val77Met) rs187737486 0.00007
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=) rs187954010 0.00007
NM_017739.4(POMGNT1):c.1605-8C>T rs535331969 0.00007
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln) rs200042607 0.00007
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp) rs200075504 0.00006
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=) rs534326487 0.00006
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val) rs144138775 0.00006
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=) rs144383704 0.00006
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=) rs371577901 0.00006
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp) rs748363488 0.00006
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu) rs1476836379 0.00006
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu) rs148538711 0.00006
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln) rs188108732 0.00006
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00006
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn) rs753780627 0.00006
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu) rs886042370 0.00006
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn) rs373442790 0.00006
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly) rs1452778513 0.00006
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886 0.00006
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr) rs376932915 0.00006
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069 0.00006
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155 0.00006
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn) rs200422222 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.3340C>T (p.Arg1114Cys) rs148171293 0.00006
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=) rs781758050 0.00006
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu) rs372573603 0.00006
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951 0.00006
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys) rs377706756 0.00006
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn) rs765027886 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His) rs138472236 0.00006
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886 0.00006
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735 0.00006
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro) rs142265349 0.00006
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424 0.00006
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp) rs185617318 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile) rs368842783 0.00006
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=) rs375814899 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=) rs769476760 0.00006
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=) rs377183242 0.00006
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566 0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg) rs757621444 0.00006
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326 0.00006
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn) rs201731351 0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651 0.00006
NM_001164508.2(NEB):c.20127C>T (p.His6709=) rs368328496 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val) rs750039342 0.00006
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala) rs754959175 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr) rs374941096 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 0.00006
NM_001164508.2(NEB):c.2354A>G (p.His785Arg) rs370296542 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=) rs754365974 0.00006
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=) rs200083849 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr) rs756135837 0.00006
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His) rs201984572 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668 0.00006
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=) rs751747575 0.00006
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys) rs758363933 0.00006
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp) rs750990726 0.00006
NM_004006.3(DMD):c.*24G>A rs372284841 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.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.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.6863A>G (p.Gln2288Arg) rs762708936 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.8399T>C (p.Leu2800Ser) rs398124071 0.00006
NM_004553.6(NDUFS6):c.336C>T (p.Cys112=) rs149406977 0.00006
NM_004553.6(NDUFS6):c.9G>A (p.Ala3=) rs765884582 0.00006
NM_005476.7(GNE):c.1070+5G>A rs374170125 0.00006
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654 0.00006
NM_017739.4(POMGNT1):c.1111-9C>T rs757533535 0.00006
NM_017739.4(POMGNT1):c.1539C>T (p.His513=) rs569297597 0.00006
NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln) rs141421141 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) rs772102300 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059 0.00006
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378 0.00006
NM_024301.5(FKRP):c.633G>A (p.Ser211=) rs921883036 0.00006
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln) rs200945974 0.00005
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys) rs370422576 0.00005
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr) rs201566716 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro) rs755930521 0.00005
NM_000117.3(EMD):c.166G>A (p.Ala56Thr) rs1057520579 0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val) rs794729021 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_000231.3(SGCG):c.1-3C>T rs373335254 0.00005
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00005
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn) rs374923265 0.00005
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079802.2(FKTN):c.822G>T (p.Arg274=) rs997235832 0.00005
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp) rs755046419 0.00005
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys) rs138097846 0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001130987.2(DYSF):c.4821C>T (p.His1607=) rs771742780 0.00005
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys) rs759505768 0.00005
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) rs773799968 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851 0.00005
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052 0.00005
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) rs371605774 0.00005
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu) rs573693040 0.00005
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His) rs550715282 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.11182-8T>A rs183088493 0.00005
NM_001164508.2(NEB):c.11712G>A (p.Lys3904=) rs767231395 0.00005
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299 0.00005
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526 0.00005
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=) rs1167279039 0.00005
NM_001164508.2(NEB):c.13059+4C>T rs1253831275 0.00005
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His) rs373850451 0.00005
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle) rs765184893 0.00005
NM_001164508.2(NEB):c.17832C>T (p.Asp5944=) rs544453966 0.00005
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met) rs778982089 0.00005
NM_001164508.2(NEB):c.18694-3T>C rs370200484 0.00005
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=) rs370742146 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 0.00005
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln) rs777069125 0.00005
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met) rs757505325 0.00005
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu) rs200454939 0.00005
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu) rs772083580 0.00005
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=) rs372203426 0.00005
NM_001164508.2(NEB):c.252C>T (p.Pro84=) rs201735545 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453 0.00005
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His) rs752349680 0.00005
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=) rs775336786 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) rs202035863 0.00005
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001953.5(TYMP):c.495T>C (p.Asn165=) rs372889443 0.00005
NM_001953.5(TYMP):c.516+9C>T rs201884709 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_004006.3(DMD):c.10224T>A (p.Thr3408=) rs774389538 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.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.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.5013A>G (p.Leu1671=) rs747877998 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.6132T>C (p.Ser2044=) rs761338933 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.7450G>A (p.Asp2484Asn) rs773102625 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.8135C>G (p.Ala2712Gly) rs751599201 0.00005
NM_004006.3(DMD):c.8159G>A (p.Arg2720His) rs760495223 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.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.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_004553.6(NDUFS6):c.117C>G (p.Val39=) rs556405335 0.00005
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=) rs376138855 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) rs745871040 0.00005
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) rs143178200 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) rs375326964 0.00005
NM_024301.5(FKRP):c.295G>A (p.Val99Met) rs776733780 0.00005
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.869C>T (p.Ala290Val) rs373312721 0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala) rs199625801 0.00004
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg) rs764593698 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln) rs1049698745 0.00004
NM_000070.3(CAPN3):c.2040C>T (p.Val680=) rs200583904 0.00004
NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg) rs1355979542 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.2184+3G>A rs771917810 0.00004
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile) rs755736723 0.00004
NM_000070.3(CAPN3):c.349A>C (p.Asn117His) rs1011699008 0.00004
NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys) rs138914944 0.00004
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00004
NM_000117.3(EMD):c.585A>G (p.Ser195=) rs140970151 0.00004
NM_000117.3(EMD):c.608G>A (p.Arg203His) rs144842093 0.00004
NM_000231.3(SGCG):c.371G>T (p.Gly124Val) rs183204936 0.00004
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser) rs374836520 0.00004
NM_000231.3(SGCG):c.670A>G (p.Met224Val) rs372188878 0.00004
NM_000231.3(SGCG):c.784T>C (p.Tyr262His) rs776357413 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000232.5(SGCB):c.715A>G (p.Ile239Val) rs868151547 0.00004
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00004
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser) rs879945095 0.00004
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.66G>A (p.Thr22=) rs781793926 0.00004
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463 0.00004
NM_001079802.2(FKTN):c.854C>T (p.Ala285Val) rs137951613 0.00004
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu) rs146900302 0.00004
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258 0.00004
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=) rs374809515 0.00004
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=) rs574076669 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438 0.00004
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812 0.00004
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln) rs748636047 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494 0.00004
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr) rs535367520 0.00004
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met) rs768787171 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val) rs562368641 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp) rs759297236 0.00004
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met) rs202013788 0.00004
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly) rs535831045 0.00004
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) rs773542731 0.00004
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) rs768354800 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val) rs754979997 0.00004
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys) rs757240900 0.00004
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=) rs375483537 0.00004
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp) rs200921075 0.00004
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628 0.00004
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=) rs549673939 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys) rs776921154 0.00004
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.10074C>T (p.His3358=) rs896373241 0.00004
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) rs768708852 0.00004
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr) rs762993577 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=) rs373365702 0.00004
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met) rs775362248 0.00004
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=) rs755871388 0.00004
NM_001164508.2(NEB):c.12537A>G (p.Lys4179=) rs753569565 0.00004
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930 0.00004
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=) rs376911383 0.00004
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701 0.00004
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162 0.00004
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.17845-6C>T rs376370460 0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154 0.00004
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=) rs141925015 0.00004
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=) rs771969348 0.00004
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939 0.00004
NM_001164508.2(NEB):c.19430G>A (p.Arg6477His) rs762108795 0.00004
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=) rs113068669 0.00004
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser) rs755153044 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro) rs767873861 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu) rs376157878 0.00004
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=) rs369611234 0.00004
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642 0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly) rs747282707 0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile) rs1396168176 0.00004
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys) rs369642754 0.00004
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile) rs575499014 0.00004
NM_001164508.2(NEB):c.23346+5G>A rs778663301 0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=) rs770713773 0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His) rs369514998 0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys) rs758166991 0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=) rs558657964 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu) rs746031384 0.00004
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln) rs770024830 0.00004
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile) rs377336846 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His) rs796797375 0.00004
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln) rs369174368 0.00004
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=) rs576696191 0.00004
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr) rs563173814 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His) rs368346105 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217 0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084 0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His) rs748121656 0.00004
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=) rs373328073 0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu) rs747225286 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser) rs368270996 0.00004
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=) rs769446481 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala) rs764064217 0.00004
NM_001164508.2(NEB):c.6075+3A>C rs986325764 0.00004
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=) rs752098313 0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu) rs777231395 0.00004
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=) rs371565168 0.00004
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met) rs905660353 0.00004
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814 0.00004
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe) rs372248515 0.00004
NM_001164508.2(NEB):c.8265+3A>T rs374475460 0.00004
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn) rs767512294 0.00004
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn) rs779416595 0.00004
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala) rs748120166 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.1301-9G>A rs548524392 0.00004
NM_001953.5(TYMP):c.177C>T (p.Ala59=) rs137930991 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
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.1083A>G (p.Thr361=) rs767325921 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.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.2076A>G (p.Glu692=) rs764950114 0.00004
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser) rs150692967 0.00004
NM_004006.3(DMD):c.2623-9A>G rs200997841 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.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.3713A>G (p.Lys1238Arg) rs150333718 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.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.5104T>C (p.Leu1702=) rs750664323 0.00004
NM_004006.3(DMD):c.5109T>C (p.Asp1703=) rs141086798 0.00004
NM_004006.3(DMD):c.5684A>T (p.Asp1895Val) rs376202643 0.00004
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile) rs201532491 0.00004
NM_004006.3(DMD):c.6358C>T (p.Leu2120=) rs780793569 0.00004
NM_004006.3(DMD):c.6639G>A (p.Leu2213=) rs1414566832 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.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.9987A>G (p.Leu3329=) rs145595228 0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) rs551854437 0.00004
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu) rs771167726 0.00004
NM_005476.7(GNE):c.828T>C (p.Phe276=) rs770346895 0.00004
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=) rs775495503 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys) rs144959783 0.00004
NM_017739.4(POMGNT1):c.354+3C>T rs372425155 0.00004
NM_017739.4(POMGNT1):c.492C>T (p.Leu164=) rs562534688 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) rs768309175 0.00004
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) rs370575962 0.00004
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.1407G>A (p.Leu469=) rs1351635868 0.00004
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.569G>A (p.Arg190His) rs917645867 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser) rs756912039 0.00003
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val) rs751466306 0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.522C>T (p.Asn174=) rs148960833 0.00003
NM_000023.4(SGCA):c.551G>A (p.Arg184His) rs142169382 0.00003
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=) rs759384108 0.00003
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996 0.00003
NM_000070.3(CAPN3):c.1800+5G>A rs373194123 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr) rs776827432 0.00003
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) rs752155690 0.00003
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr) rs749697583 0.00003
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp) rs764247865 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000117.3(EMD):c.110A>T (p.Lys37Met) rs1085307681 0.00003
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152 0.00003
NM_000117.3(EMD):c.267C>G (p.Gly89=) rs1201464258 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.502C>T (p.Arg168Cys) rs886044839 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_000117.3(EMD):c.714C>T (p.Val238=) rs782290874 0.00003
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu) rs752603127 0.00003
NM_000232.5(SGCB):c.752C>T (p.Ala251Val) rs146111013 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu) rs752663857 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.247A>G (p.Ile83Val) rs757798867 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg) rs762425552 0.00003
NM_001130987.2(DYSF):c.126C>T (p.Ser42=) rs369755508 0.00003
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe) rs765472161 0.00003
NM_001130987.2(DYSF):c.1577-1646C>T rs763227235 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098 0.00003
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln) rs749488054 0.00003
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys) rs377196032 0.00003
NM_001130987.2(DYSF):c.240-7C>T rs746083673 0.00003
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) rs146819460 0.00003
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp) rs749542779 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln) rs763925689 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) rs748951363 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu) rs767190885 0.00003
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe) rs767889531 0.00003
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile) rs766841136 0.00003
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His) rs758688467 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) rs542176164 0.00003
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe) rs367709130 0.00003
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=) rs371231895 0.00003
NM_001130987.2(DYSF):c.4755+10C>T rs139099979 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys) rs758206608 0.00003
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) rs531935195 0.00003
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=) rs139267208 0.00003
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773 0.00003
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562 0.00003
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034 0.00003
NM_001164508.2(NEB):c.104C>T (p.Thr35Met) rs749153659 0.00003
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln) rs774454536 0.00003
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107 0.00003
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=) rs781328083 0.00003
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504 0.00003
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr) rs201614105 0.00003
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg) rs760525587 0.00003
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717 0.00003
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys) rs753450456 0.00003
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078 0.00003
NM_001164508.2(NEB):c.11806-7C>A rs779713133 0.00003
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr) rs750705899 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=) rs755521679 0.00003
NM_001164508.2(NEB):c.1230T>C (p.Asp410=) rs78892743 0.00003
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys) rs756162358 0.00003
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=) rs1310326732 0.00003
NM_001164508.2(NEB):c.12747+4C>T rs1436792470 0.00003
NM_001164508.2(NEB):c.1339A>G (p.Met447Val) rs774284999 0.00003
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met) rs200952733 0.00003
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His) rs751957350 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.18693+5G>A rs377482159 0.00003
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 0.00003
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met) rs553079055 0.00003
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=) rs371194689 0.00003
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=) rs753253128 0.00003
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys) rs762552898 0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val) rs370764959 0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys) rs200826420 0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg) rs200250294 0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) rs539800267 0.00003
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His) rs767207985 0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser) rs775756899 0.00003
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu) rs750689059 0.00003
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp) rs762220487 0.00003
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg) rs200761405 0.00003
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu) rs759261311 0.00003
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu) rs541150975 0.00003
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys) rs542275170 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val) rs749977606 0.00003
NM_001164508.2(NEB):c.24999G>C (p.Gln8333His) rs774663967 0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys) rs371600800 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln) rs779983347 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=) rs372664114 0.00003
NM_001164508.2(NEB):c.339C>T (p.Tyr113=) rs546510007 0.00003
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu) rs781515499 0.00003
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys) rs764769462 0.00003
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser) rs1320792762 0.00003
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp) rs1219268531 0.00003
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=) rs576286059 0.00003
NM_001164508.2(NEB):c.448G>A (p.Val150Ile) rs376288418 0.00003
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=) rs371962475 0.00003
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr) rs371639863 0.00003
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val) rs201940342 0.00003
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895 0.00003
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437 0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val) rs200649387 0.00003
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val) rs779481792 0.00003
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys) rs372667149 0.00003
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala) rs578023308 0.00003
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp) rs368148074 0.00003
NM_001164508.2(NEB):c.7808C>T (p.Pro2603Leu) rs1259492469 0.00003
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064 0.00003
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972 0.00003
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp) rs375216659 0.00003
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn) rs780275367 0.00003
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) rs863224253 0.00003
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg) rs367723039 0.00003
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys) rs763471000 0.00003
NM_004006.3(DMD):c.1014A>G (p.Glu338=) rs758035070 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.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.1332-11C>T rs370927319 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 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.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.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.2518C>G (p.Gln840Glu) rs398123892 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.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.358-7C>T rs192050146 0.00003
NM_004006.3(DMD):c.3636G>A (p.Ala1212=) rs769510089 0.00003
NM_004006.3(DMD):c.3814T>C (p.Leu1272=) rs746405191 0.00003
NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe) rs187617705 0.00003
NM_004006.3(DMD):c.4049G>A (p.Arg1350His) rs750981128 0.00003
NM_004006.3(DMD):c.4094T>C (p.Leu1365Pro) rs752699296 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.4908G>A (p.Glu1636=) rs143538389 0.00003
NM_004006.3(DMD):c.4924T>A (p.Leu1642Met) rs376720373 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.5544G>T (p.Lys1848Asn) rs369623931 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.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.6572G>A (p.Arg2191Gln) rs756238158 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004006.3(DMD):c.6837A>C (p.Val2279=) rs1227539937 0.00003
NM_004006.3(DMD):c.7092C>T (p.Asp2364=) rs768559703 0.00003
NM_004006.3(DMD):c.7449C>T (p.Thr2483=) rs766075840 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.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.8520A>G (p.Ala2840=) rs767304792 0.00003
NM_004006.3(DMD):c.8563T>C (p.Leu2855=) rs750917672 0.00003
NM_004006.3(DMD):c.8643A>G (p.Leu2881=) rs747605156 0.00003
NM_004006.3(DMD):c.8763C>T (p.His2921=) rs755037672 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.9073A>C (p.Lys3025Gln) rs745982132 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_004553.6(NDUFS6):c.102G>A (p.Pro34=) rs763463147 0.00003
NM_005476.7(GNE):c.1070+7A>G rs149675783 0.00003
NM_005476.7(GNE):c.1413C>T (p.Gly471=) rs142836733 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1816+4G>C rs760700813 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser) rs765906814 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro) rs200227264 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017739.4(POMGNT1):c.421-9C>T rs748122023 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416 0.00003
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) rs767277509 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) rs936866997 0.00003
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) rs755588907 0.00003
NM_024301.5(FKRP):c.446G>A (p.Arg149His) rs1449983261 0.00003
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) rs1318966349 0.00003
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207 0.00003
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901 0.00003
NM_024301.5(FKRP):c.797C>T (p.Ala266Val) rs1276654268 0.00003
NM_025215.6(PUS1):c.75-5C>T rs1363622622 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr) rs375692868 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000023.4(SGCA):c.312+5C>T rs377006294 0.00002
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn) rs759284746 0.00002
NM_000023.4(SGCA):c.724G>A (p.Val242Ile) rs200166783 0.00002
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703 0.00002
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His) rs376273996 0.00002
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=) rs367855757 0.00002
NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val) rs756657325 0.00002
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu) rs749614603 0.00002
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser) rs398123145 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989 0.00002
NM_000070.3(CAPN3):c.2358C>T (p.Phe786=) rs576710955 0.00002
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln) rs201155077 0.00002
NM_000117.3(EMD):c.353G>A (p.Arg118His) rs782201984 0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys) rs782299893 0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His) rs782642152 0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.717C>T (p.Leu239=) rs782369799 0.00002
NM_000231.3(SGCG):c.-126C>A rs1411409870 0.00002
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg) rs569816696 0.00002
NM_000231.3(SGCG):c.479T>C (p.Val160Ala) rs527562042 0.00002
NM_000231.3(SGCG):c.535G>A (p.Val179Met) rs139072866 0.00002
NM_000231.3(SGCG):c.623G>T (p.Gly208Val) rs778119056 0.00002
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu) rs886158091 0.00002
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro) rs138367908 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser) rs775409967 0.00002
NM_000232.5(SGCB):c.498C>T (p.Ile166=) rs748602445 0.00002
NM_000232.5(SGCB):c.835A>G (p.Ser279Gly) rs565410997 0.00002
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136 0.00002
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) rs782215492 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser) rs751473818 0.00002
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg) rs763737649 0.00002
NM_001079802.2(FKTN):c.733T>A (p.Ser245Thr) rs776945221 0.00002
NM_001079802.2(FKTN):c.787C>G (p.Leu263Val) rs770440134 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu) rs1268717670 0.00002
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) rs561875696 0.00002
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) rs755829878 0.00002
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile) rs767805308 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2216+6G>C rs747059895 0.00002
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys) rs369209261 0.00002
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His) rs759015457 0.00002
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=) rs773468156 0.00002
NM_001130987.2(DYSF):c.249G>C (p.Gly83=) rs550993602 0.00002
NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn) rs766900434 0.00002
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His) rs765601966 0.00002
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) rs747089235 0.00002
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013 0.00002
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu) rs770593405 0.00002
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val) rs766204227 0.00002
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 0.00002
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930 0.00002
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr) rs556134001 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) rs772742658 0.00002
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) rs201966225 0.00002
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=) rs555086420 0.00002
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358 0.00002
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=) rs758538165 0.00002
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996 0.00002
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=) rs762447573 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714 0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968 0.00002
NM_001130987.2(DYSF):c.6173+4A>C rs749127704 0.00002
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) rs778611782 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.6322-10C>G rs755660226 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn) rs372827767 0.00002
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793 0.00002
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met) rs745706462 0.00002
NM_001164508.2(NEB):c.10452+5G>A rs370685957 0.00002
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val) rs761174573 0.00002
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln) rs748799656 0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=) rs780152095 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys) rs759419548 0.00002
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=) rs368230090 0.00002
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr) rs1008850251 0.00002
NM_001164508.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501 0.00002
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=) rs1396568234 0.00002
NM_001164508.2(NEB):c.12947G>A (p.Cys4316Tyr) rs1192654922 0.00002
NM_001164508.2(NEB):c.12961A>G (p.Ser4321Gly) rs1447644538 0.00002
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330 0.00002
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722 0.00002
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu) rs759653954 0.00002
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu) rs759755890 0.00002
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=) rs761988373 0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met) rs746737604 0.00002
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn) rs374867405 0.00002
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324 0.00002
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573 0.00002
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn) rs765593110 0.00002
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn) rs375143141 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 0.00002
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile) rs553375465 0.00002
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293 0.00002
NM_001164508.2(NEB):c.18366+9G>A rs759834773 0.00002
NM_001164508.2(NEB):c.18693+9_18693+10del rs756671954 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870 0.00002
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys) rs1177490619 0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306 0.00002
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585 0.00002
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His) rs757278862 0.00002
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala) rs752227497 0.00002
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg) rs779842159 0.00002
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln) rs375307136 0.00002
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089 0.00002
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629 0.00002
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377 0.00002
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val) rs368315910 0.00002
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr) rs1289511955 0.00002
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00002
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr) rs373852098 0.00002
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu) rs372387518 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23650-5T>G rs773618223 0.00002
NM_001164508.2(NEB):c.2382C>T (p.Ile794=) rs532547534 0.00002
NM_001164508.2(NEB):c.23928+4T>C rs768465696 0.00002
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys) rs969631939 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.2490G>A (p.Leu830=) rs1259136731 0.00002
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro) rs370819880 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880 0.00002
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys) rs1377050628 0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792 0.00002
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp) rs758590520 0.00002
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562 0.00002
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu) rs765273968 0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn) rs779673816 0.00002
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=) rs763075598 0.00002
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala) rs756000690 0.00002
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met) rs975412307 0.00002
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=) rs771527086 0.00002
NM_001164508.2(NEB):c.4528G>A (p.Glu1510Lys) rs370064863 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His) rs771495234 0.00002
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile) rs552140238 0.00002
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=) rs761341951 0.00002
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=) rs374717947 0.00002
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His) rs767185795 0.00002
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val) rs755853362 0.00002
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile) rs760968740 0.00002
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=) rs974601635 0.00002
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile) rs781202038 0.00002
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu) rs770322824 0.00002
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530 0.00002
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp) rs1204576083 0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val) rs765569689 0.00002
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958 0.00002
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=) rs753267809 0.00002
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln) rs772837483 0.00002
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=) rs746644593 0.00002
NM_001164508.2(NEB):c.8556G>A (p.Val2852=) rs368155040 0.00002
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015 0.00002
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly) rs765940770 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe) rs533898172 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 0.00002
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg) rs763822076 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) rs932099850 0.00002
NM_001953.5(TYMP):c.594A>G (p.Leu198=) rs753241194 0.00002
NM_004006.3(DMD):c.*59C>A rs1057520501 0.00002
NM_004006.3(DMD):c.10014A>G (p.Gln3338=) rs753610550 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.10224-5T>C rs768272792 0.00002
NM_004006.3(DMD):c.10248G>C (p.Trp3416Cys) rs376745644 0.00002
NM_004006.3(DMD):c.104A>C (p.Gln35Pro) rs1477107648 0.00002
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val) rs367748290 0.00002
NM_004006.3(DMD):c.10797+6G>A rs965185463 0.00002
NM_004006.3(DMD):c.10911G>A (p.Ser3637=) rs747939733 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.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.1333T>C (p.Leu445=) rs781105610 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.1463G>A (p.Arg488His) rs794727065 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.162C>T (p.Leu54=) rs904011265 0.00002
NM_004006.3(DMD):c.1812+4T>C rs777165271 0.00002
NM_004006.3(DMD):c.1819A>C (p.Lys607Gln) rs767698069 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.2233C>G (p.Pro745Ala) rs1435295333 0.00002
NM_004006.3(DMD):c.2311G>C (p.Ala771Pro) rs776275581 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.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.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.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.3232C>T (p.Leu1078Phe) rs375329908 0.00002
NM_004006.3(DMD):c.326G>C (p.Gly109Ala) rs1048652498 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.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.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.4300A>G (p.Lys1434Glu) rs771250421 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.4604C>T (p.Thr1535Met) rs1431604157 0.00002
NM_004006.3(DMD):c.4632A>T (p.Arg1544Ser) rs780508132 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.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.5216C>A (p.Ala1739Glu) rs200740165 0.00002
NM_004006.3(DMD):c.5263C>T (p.Pro1755Ser) rs1057515872 0.00002
NM_004006.3(DMD):c.5390T>C (p.Leu1797Pro) rs750303298 0.00002
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser) rs1800271 0.00002
NM_004006.3(DMD):c.5827A>G (p.Met1943Val) rs181849614 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.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.6101A>T (p.Gln2034Leu) rs144754029 0.00002
NM_004006.3(DMD):c.6238C>A (p.Gln2080Lys) rs1340785309 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.6484T>C (p.Leu2162=) rs768153284 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.7359A>G (p.Glu2453=) rs780283825 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.7711C>T (p.Arg2571Trp) rs757011771 0.00002
NM_004006.3(DMD):c.7892G>A (p.Arg2631His) rs748007790 0.00002
NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp) rs1015097529 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.831+10G>A rs756370588 0.00002
NM_004006.3(DMD):c.8543A>G (p.His2848Arg) rs146890210 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.9228C>T (p.His3076=) rs761925260 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.9695G>A (p.Arg3232His) rs751095907 0.00002
NM_004006.3(DMD):c.9834G>A (p.Ala3278=) rs749726519 0.00002
NM_004553.6(NDUFS6):c.165G>T (p.Arg55=) rs147278612 0.00002
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.1130del (p.Ile377fs) rs982936794 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu) rs201808007 0.00002
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr) rs369119154 0.00002
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala) rs776760528 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.2029C>T (p.His677Tyr) rs527267621 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896 0.00002
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro) rs779506923 0.00002
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp) rs770834730 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053 0.00002
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) rs1188660252 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00002
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159 0.00002
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624 0.00002
NM_024301.5(FKRP):c.725C>T (p.Ala242Val) rs1298321836 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) rs886043192 0.00002
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) rs921829148 0.00002
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) rs1365712686 0.00002
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp) rs765257355 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg) rs540254057 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln) rs771876078 0.00001
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln) rs1270625423 0.00001
NM_000023.4(SGCA):c.131C>T (p.Thr44Met) rs770516658 0.00001
NM_000023.4(SGCA):c.132G>A (p.Thr44=) rs886044035 0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 0.00001
NM_000023.4(SGCA):c.37+3A>G rs1370709181 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn) rs771485989 0.00001
NM_000023.4(SGCA):c.555C>A (p.Val185=) rs201518390 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267 0.00001
NM_000023.4(SGCA):c.592A>G (p.Ile198Val) rs375463037 0.00001
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys) rs753784732 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) rs760608643 0.00001
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys) rs753972912 0.00001
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser) rs886042858 0.00001
NM_000023.4(SGCA):c.747+3G>A rs368388538 0.00001
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00001
NM_000023.4(SGCA):c.847G>C (p.Asp283His) rs766674286 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.974C>T (p.Ala325Val) rs780200261 0.00001
NM_000070.3(CAPN3):c.1016C>T (p.Thr339Met) rs747193982 0.00001
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg) rs746311413 0.00001
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu) rs746311413 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr) rs367863862 0.00001
NM_000070.3(CAPN3):c.1244A>G (p.Asn415Ser) rs769367343 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.1382G>A (p.Arg461His) rs767398783 0.00001
NM_000070.3(CAPN3):c.1405G>A (p.Asp469Asn) rs1272589475 0.00001
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513 0.00001
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln) rs143583537 0.00001
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_000070.3(CAPN3):c.1537-3C>G rs187600280 0.00001
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=) rs530529988 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His) rs762091599 0.00001
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg) rs753338235 0.00001
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=) rs766405190 0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1800+6T>G rs866147687 0.00001
NM_000070.3(CAPN3):c.1914+10C>T rs886042479 0.00001
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys) rs1314405681 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.1992+3G>A rs761188919 0.00001
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe) rs751443759 0.00001
NM_000070.3(CAPN3):c.2115+1G>A rs766917640 0.00001
NM_000070.3(CAPN3):c.2116-6C>G rs1287322728 0.00001
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=) rs755010088 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908 0.00001
NM_000070.3(CAPN3):c.2440-3C>G rs761757153 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg) rs1173872855 0.00001
NM_000070.3(CAPN3):c.450C>T (p.Pro150=) rs1255302975 0.00001
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr) rs1177741110 0.00001
NM_000070.3(CAPN3):c.469G>A (p.Glu157Lys) rs200944841 0.00001
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=) rs1401194449 0.00001
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665 0.00001
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln) rs1375691407 0.00001
NM_000070.3(CAPN3):c.637C>T (p.His213Tyr) rs747017866 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys) rs1368398872 0.00001
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr) rs761142449 0.00001
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln) rs775084606 0.00001
NM_000070.3(CAPN3):c.917C>T (p.Pro306Leu) rs1192202929 0.00001
NM_000070.3(CAPN3):c.947C>T (p.Thr316Ile) rs1489416145 0.00001
NM_000070.3(CAPN3):c.949A>G (p.Ile317Val) rs759881880 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015 0.00001
NM_000117.3(EMD):c.103G>A (p.Glu35Lys) rs782222974 0.00001
NM_000117.3(EMD):c.132G>A (p.Gln44=) rs1322660028 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850 0.00001
NM_000117.3(EMD):c.242A>G (p.Asp81Gly) rs1557182377 0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met) rs201250825 0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met) rs397515751 0.00001
NM_000117.3(EMD):c.575C>T (p.Ser192Phe) rs782393829 0.00001
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286 0.00001
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys) rs747549369 0.00001
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala) rs771657671 0.00001
NM_000231.3(SGCG):c.236G>A (p.Arg79His) rs375766013 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys) rs191040430 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000231.3(SGCG):c.501A>T (p.Val167=) rs560640452 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.615C>A (p.Ala205=) rs142409090 0.00001
NM_000231.3(SGCG):c.625G>T (p.Val209Leu) rs563129062 0.00001
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe) rs763780768 0.00001
NM_000231.3(SGCG):c.706G>A (p.Val236Met) rs201788230 0.00001
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr) rs886043151 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.244A>G (p.Ile82Val) rs143106297 0.00001
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu) rs760596229 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.556A>G (p.Thr186Ala) rs1451834188 0.00001
NM_000232.5(SGCB):c.613A>T (p.Thr205Ser) rs202114068 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr) rs759966387 0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) rs782664128 0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) rs782032230 0.00001
NM_000252.3(MTM1):c.447A>G (p.Pro149=) rs782149231 0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) rs781886721 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) rs782444216 0.00001
NM_001079802.2(FKTN):c.1009G>T (p.Asp337Tyr) rs752721354 0.00001
NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844 0.00001
NM_001079802.2(FKTN):c.1107C>G (p.Phe369Leu) rs905981141 0.00001
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp) rs1048088668 0.00001
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His) rs752191412 0.00001
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1184C>T (p.Pro395Leu) rs1201619662 0.00001
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717 0.00001
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151 0.00001
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met) rs1389073650 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.138C>A (p.Ser46Arg) rs1826853440 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly) rs1064796459 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.305A>G (p.Lys102Arg) rs757253023 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996 0.00001
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly) rs773305645 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366 0.00001
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr) rs767961629 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr) rs753503050 0.00001
NM_001079802.2(FKTN):c.647+4A>G rs1828505595 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg) rs367662190 0.00001
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648 0.00001
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn) rs767777879 0.00001
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) rs746610724 0.00001
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) rs925623903 0.00001
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp) rs1131691788 0.00001
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) rs775370021 0.00001
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met) rs761279290 0.00001
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu) rs139258703 0.00001
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser) rs559177313 0.00001
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr) rs749866053 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00001
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) rs1299723799 0.00001
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=) rs762651388 0.00001
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) rs372475742 0.00001
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys) rs754179180 0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088 0.00001
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) rs759412160 0.00001
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu) rs146153109 0.00001
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=) rs750999022 0.00001
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) rs770997582 0.00001
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) rs763710844 0.00001
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly) rs1574058921 0.00001
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys) rs755791637 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) rs750834799 0.00001
NM_001130987.2(DYSF):c.315C>T (p.Pro105=) rs1203731908 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3228+8A>C rs749135257 0.00001
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly) rs1486623448 0.00001
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619 0.00001
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile) rs770648429 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3577C>T (p.Pro1193Ser) rs916964397 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe) rs1392863221 0.00001
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln) rs747606668 0.00001
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161 0.00001
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp) rs753817458 0.00001
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His) rs774779883 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu) rs1185353979 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4060-7T>A rs753614306 0.00001
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447 0.00001
NM_001130987.2(DYSF):c.4221+10A>G rs1448201474 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser) rs151109021 0.00001
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met) rs758226677 0.00001
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val) rs767309227 0.00001
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val) rs779344280 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser) rs1463145288 0.00001
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=) rs775026383 0.00001
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) rs2094956948 0.00001
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) rs886042492 0.00001
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn) rs781415745 0.00001
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) rs146153532 0.00001
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=) rs1573061003 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809 0.00001
NM_001130987.2(DYSF):c.5317+6C>G rs1289453214 0.00001
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met) rs773089790 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5458-5C>T rs780391061 0.00001
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914 0.00001
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=) rs759536240 0.00001
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283 0.00001
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln) rs533781748 0.00001
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro) rs768704227 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5630T>C (p.Ile1877Thr) rs191052325 0.00001
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His) rs777543798 0.00001
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=) rs780923865 0.00001
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser) rs543664648 0.00001
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys) rs763104746 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr) rs759198745 0.00001
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val) rs1189744662 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788 0.00001
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=) rs1308247360 0.00001
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=) rs539234900 0.00001
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=) rs561011151 0.00001
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) rs754852745 0.00001
NM_001130987.2(DYSF):c.6322-7C>T rs749806665 0.00001
NM_001130987.2(DYSF):c.636G>A (p.Pro212=) rs185711021 0.00001
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu) rs756925596 0.00001
NM_001130987.2(DYSF):c.693G>A (p.Gly231=) rs775544808 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) rs771325384 0.00001
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys) rs1375948337 0.00001
NM_001130987.2(DYSF):c.965G>A (p.Arg322His) rs1386290894 0.00001
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=) rs777930884 0.00001
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro) rs762447469 0.00001
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=) rs774372075 0.00001
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly) rs778763661 0.00001
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791 0.00001
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg) rs372053480 0.00001
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg) rs186278440 0.00001
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=) rs368803600 0.00001
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His) rs376558062 0.00001
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys) rs1049205301 0.00001
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr) rs2098276722 0.00001
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu) rs377027708 0.00001
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala) rs1316575607 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.11181+3A>G rs1448725511 0.00001
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg) rs761139484 0.00001
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_001164508.2(NEB):c.114G>A (p.Arg38=) rs1578040445 0.00001
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr) rs758723038 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln) rs755390933 0.00001
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=) rs372772607 0.00001
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127 0.00001
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558 0.00001
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe) rs757175445 0.00001
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln) rs1194302071 0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838 0.00001
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264 0.00001
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met) rs780157705 0.00001
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn) rs747847680 0.00001
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys) rs1475951452 0.00001
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=) rs752937326 0.00001
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.12640-10C>T rs1264692800 0.00001
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val) rs959840049 0.00001
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869 0.00001
NM_001164508.2(NEB):c.13251A>C (p.Val4417=) rs1246456851 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1365+5G>T rs1553607969 0.00001
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu) rs1484438248 0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val) rs772070576 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe) rs749473348 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.1614T>C (p.His538=) rs769074908 0.00001
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943 0.00001
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047 0.00001
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala) rs527672223 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile) rs1353681047 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu) rs776095941 0.00001
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser) rs767710795 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln) rs773983252 0.00001
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00001
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601 0.00001
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp) rs769673154 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 0.00001
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser) rs1221212842 0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549 0.00001
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538 0.00001
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg) rs1166853973 0.00001
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met) rs2096323080 0.00001
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=) rs1300207920 0.00001
NM_001164508.2(NEB):c.1839C>T (p.Ser613=) rs751976783 0.00001
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr) rs1577779523 0.00001
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=) rs541088387 0.00001
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr) rs764500250 0.00001
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp) rs750141196 0.00001
NM_001164508.2(NEB):c.18762C>T (p.His6254=) rs748339284 0.00001
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met) rs781706876 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn) rs766403303 0.00001
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=) rs773178453 0.00001
NM_001164508.2(NEB):c.192G>A (p.Lys64=) rs761189437 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp) rs746394316 0.00001
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu) rs774608228 0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn) rs752626000 0.00001
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val) rs1354087086 0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923 0.00001
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val) rs747034126 0.00001
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr) rs756123091 0.00001
NM_001164508.2(NEB):c.19732-5G>A rs779841022 0.00001
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn) rs534519331 0.00001
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688 0.00001
NM_001164508.2(NEB):c.19944+7A>G rs201751179 0.00001
NM_001164508.2(NEB):c.1998+5G>A rs1015618560 0.00001
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile) rs951646007 0.00001
NM_001164508.2(NEB):c.20727C>T (p.His6909=) rs779779886 0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123 0.00001
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697 0.00001
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His) rs767230683 0.00001
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys) rs901568718 0.00001
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile) rs779881258 0.00001
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=) rs778067687 0.00001
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=) rs767655200 0.00001
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln) rs1487630736 0.00001
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113 0.00001
NM_001164508.2(NEB):c.21312+5G>A rs778363526 0.00001
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile) rs766520487 0.00001
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile) rs749168085 0.00001
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro) rs777945797 0.00001
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=) rs568248647 0.00001
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp) rs778063345 0.00001
NM_001164508.2(NEB):c.21841-6T>A rs767466501 0.00001
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=) rs757845188 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=) rs780790042 0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519 0.00001
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val) rs550296441 0.00001
NM_001164508.2(NEB):c.22051-3C>A rs1172424440 0.00001
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg) rs1447292730 0.00001
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp) rs376684415 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22268G>A (p.Ser7423Asn) rs759974940 0.00001
NM_001164508.2(NEB):c.22374+6G>A rs749050869 0.00001
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys) rs768826001 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu) rs376495046 0.00001
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=) rs373263895 0.00001
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr) rs746454129 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 0.00001
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn) rs758761216 0.00001
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln) rs903199022 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu) rs768880396 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23551A>T (p.Ser7851Cys) rs371991383 0.00001
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg) rs1480807112 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg) rs762094581 0.00001
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala) rs1253296856 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser) rs1461067378 0.00001
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln) rs767969927 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu) rs763365852 0.00001
NM_001164508.2(NEB):c.24021+8G>A rs1361035933 0.00001
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu) rs1037262755 0.00001
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe) rs1217235799 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=) rs527744844 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr) rs1320244420 0.00001
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=) rs1230102324 0.00001
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His) rs775139388 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.24873+7C>T rs372378614 0.00001
NM_001164508.2(NEB):c.249C>T (p.Thr83=) rs200936927 0.00001
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=) rs766453942 0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=) rs763433145 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu) rs949111967 0.00001
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu) rs772154599 0.00001
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193 0.00001
NM_001164508.2(NEB):c.2755C>G (p.His919Asp) rs373168257 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2892T>C (p.Phe964=) rs762595663 0.00001
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val) rs1337927808 0.00001
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712 0.00001
NM_001164508.2(NEB):c.2931C>T (p.Asp977=) rs1576205507 0.00001
NM_001164508.2(NEB):c.2954G>A (p.Arg985His) rs769987120 0.00001
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala) rs1043417027 0.00001
NM_001164508.2(NEB):c.2979T>C (p.Phe993=) rs780408206 0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly) rs748741238 0.00001
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=) rs1448712345 0.00001
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp) rs574309369 0.00001
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val) rs574309369 0.00001
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met) rs1404806019 0.00001
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met) rs757659868 0.00001
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val) rs371816204 0.00001
NM_001164508.2(NEB):c.3568-10A>G rs774345653 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser) rs774219262 0.00001
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164 0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln) rs747423578 0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn) rs534646949 0.00001
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=) rs754513702 0.00001
NM_001164508.2(NEB):c.422G>T (p.Gly141Val) rs973669056 0.00001
NM_001164508.2(NEB):c.4243C>T (p.Leu1415=) rs749514411 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 0.00001
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn) rs781655186 0.00001
NM_001164508.2(NEB):c.4653C>G (p.Gly1551=) rs1471553322 0.00001
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys) rs1257025966 0.00001
NM_001164508.2(NEB):c.4693A>G (p.Lys1565Glu) rs767580883 0.00001
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp) rs751602407 0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser) rs772492791 0.00001
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile) rs1575593044 0.00001
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596 0.00001
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572 0.00001
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu) rs971655417 0.00001
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys) rs1306269352 0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039 0.00001
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=) rs201539560 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr) rs763408172 0.00001
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638 0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355 0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=) rs757546480 0.00001
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136 0.00001
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg) rs750070644 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys) rs753064438 0.00001
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile) rs747729019 0.00001
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp) rs756398214 0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser) rs774148469 0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965 0.00001
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu) rs765096308 0.00001
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys) rs762107662 0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr) rs777601721 0.00001
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln) rs369456343 0.00001
NM_001164508.2(NEB):c.6A>T (p.Ala2=) rs778187569 0.00001
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667 0.00001
NM_001164508.2(NEB):c.718-6C>T rs371791129 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515 0.00001
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr) rs571451076 0.00001
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr) rs375216853 0.00001
NM_001164508.2(NEB):c.761C>T (p.Thr254Met) rs376835458 0.00001
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097 0.00001
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val) rs1334008702 0.00001
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063 0.00001
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys) rs377602828 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr) rs779023599 0.00001
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=) rs1419803549 0.00001
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=) rs774348830 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888 0.00001
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His) rs753996512 0.00001
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His) rs548343514 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys) rs750799792 0.00001
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met) rs757497327 0.00001
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu) rs765207403 0.00001
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu) rs764499750 0.00001
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=) rs761257246 0.00001
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser) rs200672688 0.00001
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=) rs774786443 0.00001
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452 0.00001
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly) rs756396449 0.00001
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=) rs777722290 0.00001
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile) rs755604172 0.00001
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283 0.00001
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138 0.00001
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219 0.00001
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=) rs770587751 0.00001
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=) rs373833313 0.00001
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr) rs781238222 0.00001
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196 0.00001
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met) rs564504601 0.00001
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365 0.00001
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile) rs369385033 0.00001
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr) rs776107526 0.00001
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) rs1085307802 0.00001
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) rs752674133 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) rs1159355069 0.00001
NM_001953.5(TYMP):c.198G>A (p.Ala66=) rs1172184794 0.00001
NM_001953.5(TYMP):c.281C>T (p.Ala94Val) rs863224249 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.762G>A (p.Thr254=) rs373478014 0.00001
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala) rs368577086 0.00001
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val) rs1057524492 0.00001
NM_003494.4(DYSF):c.27C>G (p.Ala9=) rs771520271 0.00001
NM_004006.3(DMD):c.1000T>A (p.Leu334Met) rs1280415176 0.00001
NM_004006.3(DMD):c.1004T>C (p.Met335Thr) rs540761988 0.00001
NM_004006.3(DMD):c.10086G>A (p.Pro3362=) rs201288384 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.10160C>T (p.Ala3387Val) rs202219782 0.00001
NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu) rs367657320 0.00001
NM_004006.3(DMD):c.10272G>A (p.Ser3424=) rs1400465644 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.10608G>A (p.Leu3536=) rs773786369 0.00001
NM_004006.3(DMD):c.10696C>T (p.Arg3566Cys) rs750800262 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.10910C>T (p.Ser3637Leu) rs200166885 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.1150-4T>A rs794727031 0.00001
NM_004006.3(DMD):c.1155C>T (p.Tyr385=) rs1430845292 0.00001
NM_004006.3(DMD):c.1219A>G (p.Ile407Val) rs1463021278 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.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.1464C>T (p.Arg488=) rs771891715 0.00001
NM_004006.3(DMD):c.1532C>T (p.Thr511Ile) rs1295185756 0.00001
NM_004006.3(DMD):c.1572C>T (p.His524=) rs779611516 0.00001
NM_004006.3(DMD):c.1604T>C (p.Val535Ala) rs770149373 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.1694C>T (p.Thr565Ile) rs763112789 0.00001
NM_004006.3(DMD):c.1739A>G (p.Asp580Gly) rs1246969208 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.1825G>T (p.Asp609Tyr) rs761724460 0.00001
NM_004006.3(DMD):c.191A>C (p.Lys64Thr) rs1482045034 0.00001
NM_004006.3(DMD):c.1965C>T (p.Val655=) rs1255068879 0.00001
NM_004006.3(DMD):c.2032C>G (p.Gln678Glu) rs398123872 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.2146G>C (p.Val716Leu) rs886043081 0.00001
NM_004006.3(DMD):c.21A>G (p.Val7=) rs1374590369 0.00001
NM_004006.3(DMD):c.2226G>A (p.Leu742=) rs775246170 0.00001
NM_004006.3(DMD):c.2292+10G>A rs763586440 0.00001
NM_004006.3(DMD):c.2297T>C (p.Ile766Thr) rs1443021146 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.2384G>T (p.Gly795Val) rs760247534 0.00001
NM_004006.3(DMD):c.2422C>T (p.Leu808=) rs1289380956 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.247G>A (p.Val83Ile) rs1358774744 0.00001
NM_004006.3(DMD):c.2492A>T (p.Asn831Ile) rs2042985183 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.2599A>G (p.Lys867Glu) rs1382610511 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.2645A>T (p.Asp882Val) rs228406 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.2724T>G (p.Asp908Glu) rs372780045 0.00001
NM_004006.3(DMD):c.2729A>T (p.Asp910Val) rs1469818959 0.00001
NM_004006.3(DMD):c.2785G>A (p.Glu929Lys) rs772679497 0.00001
NM_004006.3(DMD):c.284G>T (p.Gly95Val) rs1381812538 0.00001
NM_004006.3(DMD):c.2905G>A (p.Val969Ile) rs750582245 0.00001
NM_004006.3(DMD):c.2938G>A (p.Gly980Arg) rs374102077 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.3029C>A (p.Ala1010Glu) rs780896933 0.00001
NM_004006.3(DMD):c.3030G>A (p.Ala1010=) rs72468666 0.00001
NM_004006.3(DMD):c.3093G>T (p.Lys1031Asn) rs1220406312 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.3193G>C (p.Ala1065Pro) rs774756042 0.00001
NM_004006.3(DMD):c.3198A>C (p.Glu1066Asp) rs1334068605 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.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.3387A>G (p.Thr1129=) rs765737579 0.00001
NM_004006.3(DMD):c.3403A>G (p.Asn1135Asp) rs753384771 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.3482G>A (p.Ser1161Asn) rs371273141 0.00001
NM_004006.3(DMD):c.3488A>G (p.Gln1163Arg) rs1603633866 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.3590T>C (p.Val1197Ala) rs777955789 0.00001
NM_004006.3(DMD):c.3635C>T (p.Ala1212Val) rs142171890 0.00001
NM_004006.3(DMD):c.3777G>A (p.Lys1259=) rs1445951268 0.00001
NM_004006.3(DMD):c.3891C>T (p.Gly1297=) rs758317261 0.00001
NM_004006.3(DMD):c.3937A>G (p.Met1313Val) rs794729003 0.00001
NM_004006.3(DMD):c.396A>G (p.Gln132=) rs1421854333 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.4014G>A (p.Glu1338=) rs752324539 0.00001
NM_004006.3(DMD):c.4040T>A (p.Phe1347Tyr) rs1466636716 0.00001
NM_004006.3(DMD):c.4064A>G (p.His1355Arg) rs1422809613 0.00001
NM_004006.3(DMD):c.4105A>G (p.Ile1369Val) rs978977375 0.00001
NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg) rs876657779 0.00001
NM_004006.3(DMD):c.4206C>T (p.Asp1402=) rs766668051 0.00001
NM_004006.3(DMD):c.4336G>A (p.Val1446Ile) rs756852420 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.4449G>A (p.Met1483Ile) rs765355046 0.00001
NM_004006.3(DMD):c.4458T>A (p.Pro1486=) rs775097950 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.4561A>G (p.Met1521Val) rs757350813 0.00001
NM_004006.3(DMD):c.4621C>A (p.Leu1541Ile) rs777614188 0.00001
NM_004006.3(DMD):c.4765G>A (p.Ala1589Thr) rs770347305 0.00001
NM_004006.3(DMD):c.4845+7C>T rs764100658 0.00001
NM_004006.3(DMD):c.4910C>T (p.Ala1637Val) rs1285159164 0.00001
NM_004006.3(DMD):c.4995C>T (p.Ser1665=) rs775659020 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.5040C>T (p.His1680=) rs72468632 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.5154+8A>G rs781716282 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.5236G>A (p.Gly1746Ser) rs1305126237 0.00001
NM_004006.3(DMD):c.5277G>T (p.Glu1759Asp) rs761491343 0.00001
NM_004006.3(DMD):c.531-9G>T rs780448549 0.00001
NM_004006.3(DMD):c.5370A>C (p.Ile1790=) rs748336386 0.00001
NM_004006.3(DMD):c.5393A>T (p.Glu1798Val) rs778973278 0.00001
NM_004006.3(DMD):c.5468C>G (p.Thr1823Ser) rs1465595838 0.00001
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu) rs770845480 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.5617C>G (p.Leu1873Val) rs769637913 0.00001
NM_004006.3(DMD):c.5658T>C (p.Ala1886=) rs398123994 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.5785G>C (p.Val1929Leu) rs794729004 0.00001
NM_004006.3(DMD):c.5788C>T (p.Arg1930Cys) rs1295144399 0.00001
NM_004006.3(DMD):c.5820G>T (p.Gly1940=) rs1404360892 0.00001
NM_004006.3(DMD):c.5876T>C (p.Ile1959Thr) rs1306182225 0.00001
NM_004006.3(DMD):c.5923-6T>C rs747486367 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.5964C>T (p.Asp1988=) rs1057515869 0.00001
NM_004006.3(DMD):c.5969C>T (p.Pro1990Leu) rs961227665 0.00001
NM_004006.3(DMD):c.6028G>T (p.Ala2010Ser) rs72468613 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.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.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.6200C>T (p.Thr2067Met) rs1405599353 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.6438+10T>C rs754382994 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.657T>A (p.Asp219Glu) rs771312947 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.683T>A (p.Ile228Asn) rs886043430 0.00001
NM_004006.3(DMD):c.6891G>T (p.Gln2297His) rs769249649 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.7083A>C (p.Gly2361=) rs1397611369 0.00001
NM_004006.3(DMD):c.7093G>A (p.Val2365Ile) rs746851176 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.7335G>A (p.Val2445=) rs1329493987 0.00001
NM_004006.3(DMD):c.7341A>G (p.Gln2447=) rs780354773 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.74T>C (p.Val25Ala) rs886039061 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.7597G>A (p.Ala2533Thr) rs369583884 0.00001
NM_004006.3(DMD):c.7620G>A (p.Lys2540=) rs1331437410 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.7853A>G (p.Lys2618Arg) rs972664841 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.7993A>G (p.Asn2665Asp) rs767634310 0.00001
NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser) rs371437381 0.00001
NM_004006.3(DMD):c.8028G>A (p.Arg2676=) rs1237546420 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.8137A>G (p.Asn2713Asp) rs766553671 0.00001
NM_004006.3(DMD):c.8158C>T (p.Arg2720Cys) rs375657730 0.00001
NM_004006.3(DMD):c.8296C>T (p.Leu2766=) rs751387739 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.832-3C>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.8502T>C (p.Ile2834=) rs1002021681 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004006.3(DMD):c.8526G>C (p.Gln2842His) rs1281466006 0.00001
NM_004006.3(DMD):c.8605G>C (p.Val2869Leu) rs2068037888 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.8673G>C (p.Leu2891=) rs1032573101 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.8714G>A (p.Arg2905Gln) rs267606433 0.00001
NM_004006.3(DMD):c.8745G>T (p.Trp2915Cys) rs761750882 0.00001
NM_004006.3(DMD):c.877A>G (p.Lys293Glu) rs960307751 0.00001
NM_004006.3(DMD):c.8806C>T (p.Leu2936Phe) rs146517753 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.8865G>A (p.Val2955=) rs374478841 0.00001
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu) rs151087470 0.00001
NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr) rs755061434 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.9032C>T (p.Pro3011Leu) rs143925896 0.00001
NM_004006.3(DMD):c.9140C>T (p.Pro3047Leu) rs1303381637 0.00001
NM_004006.3(DMD):c.918T>C (p.Tyr306=) rs149106712 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.9390T>C (p.Cys3130=) rs1057523643 0.00001
NM_004006.3(DMD):c.9483G>A (p.Leu3161=) rs749737691 0.00001
NM_004006.3(DMD):c.9525G>A (p.Val3175=) rs1060502622 0.00001
NM_004006.3(DMD):c.9642G>C (p.Lys3214Asn) rs1341389139 0.00001
NM_004006.3(DMD):c.9690C>T (p.Asp3230=) rs767474138 0.00001
NM_004006.3(DMD):c.969A>T (p.Glu323Asp) rs774626343 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.9931G>A (p.Ala3311Thr) rs1348920866 0.00001
NM_004553.6(NDUFS6):c.306C>T (p.Asn102=) rs773991515 0.00001
NM_004553.6(NDUFS6):c.353A>G (p.Gln118Arg) rs748728259 0.00001
NM_005476.7(GNE):c.1250C>T (p.Thr417Met) rs1554659711 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser) rs370478702 0.00001
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138 0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210 0.00001
NM_005476.7(GNE):c.1634-8C>T rs756876449 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.2008G>T (p.Val670Phe) rs746449874 0.00001
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682 0.00001
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr) rs201216576 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met) rs1332597566 0.00001
NM_017739.4(POMGNT1):c.1110+9T>C rs1553163359 0.00001
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu) rs375845761 0.00001
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=) rs760312462 0.00001
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887 0.00001
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu) rs749863346 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile) rs766383336 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1605-9C>T rs368345562 0.00001
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp) rs546654268 0.00001
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn) rs761426941 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val) rs886044042 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala) rs768245322 0.00001
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169 0.00001
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu) rs1467007123 0.00001
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=) rs747815387 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu) rs1459243404 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.405C>T (p.Val135=) rs777809507 0.00001
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys) rs780641373 0.00001
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala) rs868433749 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=) rs139266745 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) rs752124301 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His) rs368653589 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg) rs1306444778 0.00001
NM_024120.5(NDUFAF5):c.263+8G>A rs200867652 0.00001
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) rs1199767012 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser) rs1412050261 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) rs751586523 0.00001
NM_024301.5(FKRP):c.1167G>A (p.Glu389=) rs771708277 0.00001
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) rs767570224 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) rs763422045 0.00001
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) rs1555739297 0.00001
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg) rs763299165 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092 0.00001
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr) rs751506122 0.00001
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr) rs1311501368 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) rs1244445645 0.00001
NM_024301.5(FKRP):c.299G>A (p.Arg100His) rs1174581828 0.00001
NM_024301.5(FKRP):c.315G>T (p.Gln105His) rs765444642 0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) rs1164727838 0.00001
NM_024301.5(FKRP):c.32C>T (p.Ala11Val) rs760295001 0.00001
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) rs1060502106 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) rs1599935206 0.00001
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) rs748272589 0.00001
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846 0.00001
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) rs772380755 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 0.00001
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) rs1320991574 0.00001
NM_024301.5(FKRP):c.809G>A (p.Arg270His) rs1025118379 0.00001
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110 0.00001
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) rs1435780847 0.00001
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) rs886044183 0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802 0.00001
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458 0.00001
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr) rs769778891
NM_000023.4(SGCA):c.187C>T (p.His63Tyr) rs1905021704
NM_000023.4(SGCA):c.304G>A (p.Val102Ile) rs1266940329
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala) rs749097695
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.37+6T>C rs751466815
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.52C>G (p.Leu18Val) rs1555568100
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.781G>A (p.Val261Met) rs754703769
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.957-1G>T rs2144502043
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu) rs1309107612
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1002C>T (p.His334=) rs374833797
NM_000070.3(CAPN3):c.1003G>A (p.Ala335Thr) rs779526097
NM_000070.3(CAPN3):c.1123G>C (p.Asp375His) rs2053707997
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn) rs760121531
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
NM_000070.3(CAPN3):c.1293G>A (p.Val431=) rs1009544440
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1355-10G>A rs1388234925
NM_000070.3(CAPN3):c.1355-1G>C rs747557404
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu) rs140828326
NM_000070.3(CAPN3):c.1584C>A (p.Asn528Lys) rs530529988
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu) rs138172448
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu) rs370809015
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1800+4G>A rs2054007004
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=) rs746786954
NM_000070.3(CAPN3):c.193C>G (p.His65Asp) rs898013388
NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln) rs2052597232
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg) rs140425651
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr) rs1008776680
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=) rs770894443
NM_000070.3(CAPN3):c.222T>G (p.Leu74=) rs551850600
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys) rs769208910
NM_000070.3(CAPN3):c.281C>T (p.Pro94Leu) rs2052600414
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) rs772580081
NM_000070.3(CAPN3):c.526G>A (p.Val176Met) rs774114705
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr) rs148855999
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser) rs148855999
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu) rs768426565
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.60del (p.Pro22fs) rs1566965857
NM_000070.3(CAPN3):c.632+8A>G rs2053447422
NM_000070.3(CAPN3):c.638A>G (p.His213Arg) rs768447053
NM_000070.3(CAPN3):c.673A>G (p.Thr225Ala) rs2053479373
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg) rs762020512
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr) rs2053485296
NM_000070.3(CAPN3):c.802-3C>T rs1376586945
NM_000070.3(CAPN3):c.864A>G (p.Ala288=) rs1555420768
NM_000070.3(CAPN3):c.945+5G>A rs773547765
NM_000070.3(CAPN3):c.946-9_946-5del rs758101156
NM_000070.3(CAPN3):c.965A>G (p.Tyr322Cys) rs2053589191
NM_000117.3(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.3(EMD):c.266-35_266-18dup rs200992013
NM_000117.3(EMD):c.271A>G (p.Asn91Asp) rs2067879275
NM_000117.3(EMD):c.350T>G (p.Val117Gly) rs781924971
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) rs2067884058
NM_000117.3(EMD):c.503G>A (p.Arg168His) rs898460509
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del) rs2067884874
NM_000117.3(EMD):c.587C>T (p.Ser196Phe) rs781900414
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_000117.3(EMD):c.651G>A (p.Leu217=) rs2067885915
NM_000117.3(EMD):c.712G>A (p.Val238Ile) rs782455914
NM_000117.3(EMD):c.730C>T (p.His244Tyr) rs2067886772
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.217G>A (p.Val73Ile) rs763619480
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.386-2A>C rs886042757
NM_000231.3(SGCG):c.438C>A (p.Asp146Glu) rs144497243
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys) rs770939408
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.529C>T (p.His177Tyr) rs375592456
NM_000231.3(SGCG):c.551T>G (p.Val184Gly) rs1593095374
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp) rs752669226
NM_000231.3(SGCG):c.607A>G (p.Met203Val) rs1883002488
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg) rs1456517729
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup) rs768838951
NM_000232.5(SGCB):c.17C>T (p.Ala6Val) rs1414363052
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.361C>A (p.Pro121Thr) rs764749125
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.434T>C (p.Val145Ala) rs1446053409
NM_000232.5(SGCB):c.44A>G (p.Asn15Ser) rs1560568898
NM_000232.5(SGCB):c.698T>C (p.Phe233Ser) rs1578125133
NM_000232.5(SGCB):c.753+10_753+12del rs138604476
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup) rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup) rs781364428
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) rs1195705222
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) rs964287315
NM_000252.3(MTM1):c.912C>T (p.Ala304=) rs782504569
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1045G>A (p.Val349Ile) rs1831549660
NM_001079802.2(FKTN):c.1045G>C (p.Val349Leu) rs1831549660
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro) rs1833923288
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile) rs371464705
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1265A>G (p.Asn422Ser) rs1833935107
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val) rs1827816995
NM_001079802.2(FKTN):c.224T>C (p.Ile75Thr) rs756178260
NM_001079802.2(FKTN):c.22G>A (p.Val8Met) rs368981218
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser) rs1587865923
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.369+4A>G rs1588088864
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp) rs142783718
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val) rs977350409
NM_001079802.2(FKTN):c.488T>A (p.Ile163Asn) rs1828461999
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
NM_001079802.2(FKTN):c.564C>G (p.His188Gln) rs1828485095
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys) rs749576551
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.719AAG[1] (p.Glu241del) rs1437925297
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_001079802.2(FKTN):c.975A>C (p.Gln325His) rs774410536
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys) rs781380886
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.1271C>G (p.Pro424Arg) rs767800266
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1577-25T>C rs769185336
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu) rs773168782
NM_001130987.2(DYSF):c.1797C>T (p.Leu599=) rs2090960824
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln) rs546679270
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr) rs376652699
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) rs146819460
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=) rs1465061221
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=) rs775337850
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) rs2092226553
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) rs759171890
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup) rs1172863089
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu) rs774307376
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) rs775907195
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) rs1237272381
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) rs2092365476
NM_001130987.2(DYSF):c.3153G>A (p.Met1051Ile) rs2092366716
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) rs770883682
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr) rs959125009
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=) rs778088008
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val) rs1442583354
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu) rs1385670493
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) rs762041312
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) rs370620594
NM_001130987.2(DYSF):c.3928-10T>C rs1558589946
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=) rs781449138
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys) rs760074198
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His) rs61742872
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys) rs775254512
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe) rs775254512
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His) rs138268837
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser) rs757346544
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu) rs1471848144
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) rs1574354515
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=) rs1476328093
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) rs562261472
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4626+10C>T rs1420815050
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro) rs2094765878
NM_001130987.2(DYSF):c.4658C>A (p.Ala1553Asp) rs2094766394
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro) rs751126464
NM_001130987.2(DYSF):c.4755+5A>C rs2094768502
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val) rs768130248
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr) rs1298041271
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=) rs963646326
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys) rs771735871
NM_001130987.2(DYSF):c.5174+8G>A rs1573054048
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe) rs575920691
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser) rs1573078295
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala) rs753644501
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
NM_001130987.2(DYSF):c.5546+7T>C rs1573092033
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala) rs886043339
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser) rs886044266
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5906A>G (p.Asn1969Ser) rs775578484
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp) rs1395588065
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser) rs1442725303
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser) rs759455142
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) rs752497222
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu) rs201980470
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly) rs373585652
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.852G>A (p.Thr284=) rs1454893867
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs) rs1337417322
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr) rs1314586455
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr) rs539484245
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser) rs1574279999
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=) rs1205545857
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn) rs1370385550
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val) rs535926481
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys) rs765175171
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=) rs2098336175
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg) rs371572709
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu) rs1221725692
NM_001164508.2(NEB):c.1074A>G (p.Lys358=) rs2099709094
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr) rs2098331597
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu) rs781328083
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg) rs1489953672
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp) rs199766288
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn) rs1367960856
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.11826G>C (p.Trp3942Cys) rs759613419
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val) rs751650751
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp) rs1576715880
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser) rs761668198
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg) rs199683595
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg) rs749270501
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys) rs755521679
NM_001164508.2(NEB):c.12362G>A (p.Arg4121His) rs1310133597
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=) rs1320574868
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=) rs1579059705
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.12534+3A>G rs2097772131
NM_001164508.2(NEB):c.12535-10C>T rs2097760296
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001164508.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001164508.2(NEB):c.12638A>G (p.Asn4213Ser) rs2097758270
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=) rs1579015882
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001164508.2(NEB):c.12747+5G>A rs1251007091
NM_001164508.2(NEB):c.12784C>T (p.His4262Tyr) rs2097628697
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001164508.2(NEB):c.12832G>T (p.Ala4278Ser) rs1578941825
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala) rs752660824
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001164508.2(NEB):c.12998C>A (p.Thr4333Lys) rs1319674362
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001164508.2(NEB):c.13060-2A>G rs2097571378
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001164508.2(NEB):c.1314C>G (p.Phe438Leu) rs765769921
NM_001164508.2(NEB):c.1314C>T (p.Phe438=) rs765769921
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=) rs1344892267
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=) rs1578890458
NM_001164508.2(NEB):c.13263+8C>T rs1553866957
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=) rs1578873204
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr) rs771832822
NM_001164508.2(NEB):c.13367A>G (p.Asn4456Ser) rs2097549978
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13369-14CT[2] rs1553865749
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001164508.2(NEB):c.13457C>T (p.Ser4486Phe) rs2097548401
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001164508.2(NEB):c.13476+1G>A rs1578868550
NM_001164508.2(NEB):c.13477-2A>G rs2153903681
NM_001164508.2(NEB):c.13477-7C>T rs1328191142
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=) rs1578803539
NM_001164508.2(NEB):c.13593G>C (p.Arg4531Ser) rs2097451987
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn) rs1578802735
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001164508.2(NEB):c.13651G>C (p.Val4551Leu) rs1553862399
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=) rs1578801445
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001164508.2(NEB):c.1434A>G (p.Glu478=) rs2149351968
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1]) rs757726895
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr) rs749713442
NM_001164508.2(NEB):c.168A>G (p.Ala56=) rs200297299
NM_001164508.2(NEB):c.16934A>G (p.Lys5645Arg) rs2096805812
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met) rs1360278350
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser) rs1390168520
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly) rs547231033
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=) rs140688592
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His) rs371681892
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001164508.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr) rs1262861131
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del) rs1553787578
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=) rs767518298
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser) rs2099581808
NM_001164508.2(NEB):c.17738A>G (p.Tyr5913Cys) rs2096492304
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp) rs764985237
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg) rs2096449520
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile) rs764679933
NM_001164508.2(NEB):c.18161T>C (p.Val6054Ala) rs1362288800
NM_001164508.2(NEB):c.18261+5G>A rs375167899
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=) rs757188494
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys) rs377179553
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly) rs753261774
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg) rs1176664285
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=) rs1362922636
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.1900T>C (p.Leu634=) rs1576526817
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn) rs191579691
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro) rs556624010
NM_001164508.2(NEB):c.19428+8C>A rs773614835
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys) rs765181095
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp) rs771483221
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala) rs1028441065
NM_001164508.2(NEB):c.2038C>A (p.His680Asn) rs773702715
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr) rs1383294380
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly) rs1279646895
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.21418-6del rs56026241
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn) rs1227689355
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly) rs376072545
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu) rs1559547106
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser) rs750642580
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile) rs764524918
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly) rs1436329266
NM_001164508.2(NEB):c.22372G>A (p.Glu7458Lys) rs2084187419
NM_001164508.2(NEB):c.23010A>T (p.Ala7670=) rs2076734268
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys) rs762019205
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg) rs776379234
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu) rs2070773602
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn) rs780379101
NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe) rs1553601424
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala) rs2064473141
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly) rs2062685891
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser) rs946188918
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.24486+10G>A rs755064162
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile) rs770656983
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile) rs369083039
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp) rs200804762
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala) rs1038960610
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=) rs1574544943
NM_001164508.2(NEB):c.25297+4C>T rs1410859190
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr) rs376984481
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser) rs751394716
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu) rs373892420
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser) rs2099480203
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val) rs765478068
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr) rs549231016
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.2904A>G (p.Glu968=) rs2099429615
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro) rs770003609
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly) rs371710158
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val) rs371710158
NM_001164508.2(NEB):c.3253G>A (p.Asp1085Asn) rs2099400725
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile) rs1311528896
NM_001164508.2(NEB):c.3774+4A>C rs1026503983
NM_001164508.2(NEB):c.3862G>A (p.Ala1288Thr) rs775943165
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe) rs2099787743
NM_001164508.2(NEB):c.402+4G>A rs1162289427
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr) rs760822809
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala) rs918736685
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala) rs2099279650
NM_001164508.2(NEB):c.4507-3del rs767772701
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=) rs2099254265
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp) rs2099240158
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val) rs751602407
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu) rs1237432906
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg) rs2099214775
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=) rs1575578013
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser) rs764638678
NM_001164508.2(NEB):c.508-6G>A rs374227241
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser) rs374677022
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn) rs2099187269
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys) rs747326135
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg) rs997951612
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu) rs1486289467
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln) rs531692437
NM_001164508.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu) rs2099118243
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.6086A>T (p.Lys2029Ile) rs747575539
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn) rs1234273631
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.6578A>G (p.Lys2193Arg) rs2099081977
NM_001164508.2(NEB):c.6583G>A (p.Ala2195Thr) rs2099081952
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser) rs768864684
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp) rs1363435897
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser) rs757526825
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg) rs1575132924
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7158T>C (p.His2386=) rs1051050497
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg) rs2099020273
NM_001164508.2(NEB):c.7197A>C (p.Gln2399His) rs2099020027
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg) rs1031592589
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser) rs1425616065
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=) rs772164378
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys) rs756956766
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala) rs2098907855
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val) rs1574917037
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp) rs759848500
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser) rs747131655
NM_001164508.2(NEB):c.8469G>A (p.Val2823=) rs1574818802
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp) rs2098833761
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu) rs1256097684
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp) rs748618562
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly) rs979095688
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg) rs539367087
NM_001164508.2(NEB):c.8994+1G>A rs2098817648
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys) rs1574635522
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser) rs758739517
NM_001164508.2(NEB):c.9281G>C (p.Gly3094Ala) rs896120572
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr) rs145770770
NM_001164508.2(NEB):c.9479A>C (p.Asp3160Ala) rs1574428058
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001164508.2(NEB):c.955A>G (p.Met319Val) rs1269690979
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9679C>G (p.Pro3227Ala) rs778571060
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln) rs200930670
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met) rs373285394
NM_001164508.2(NEB):c.9972G>T (p.Lys3324Asn) rs747709979
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) rs1603441848
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) rs2069353068
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) rs863224254
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) rs2069352300
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) rs2069348232
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro) rs28931613
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) rs781153870
NM_001953.5(TYMP):c.135C>T (p.Asp45=) rs1035604323
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) rs863224256
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn) rs570047465
NM_001953.5(TYMP):c.402G>C (p.Ala134=) rs747718279
NM_001953.5(TYMP):c.418-7C>T rs2069479747
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_001953.5(TYMP):c.647-6C>G rs1323542953
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) rs570438867
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser) rs368577086
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn) rs1354334539
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_004006.3(DMD):c.*57_*60dup rs1327332363
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe) rs2041037870
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.10066A>G (p.Met3356Val) rs2041033085
NM_004006.3(DMD):c.10085C>T (p.Pro3362Leu) rs1569423459
NM_004006.3(DMD):c.100A>G (p.Lys34Glu) rs1557084280
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.1015G>A (p.Val339Ile) rs886044093
NM_004006.3(DMD):c.10224dup (p.Pro3409fs) rs2148280837
NM_004006.3(DMD):c.10258T>C (p.Ser3420Pro) rs1569418231
NM_004006.3(DMD):c.10261G>A (p.Ala3421Thr) rs2040705871
NM_004006.3(DMD):c.10262+1G>T rs145603325
NM_004006.3(DMD):c.10308C>T (p.Arg3436=) rs780389106
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu) rs199974153
NM_004006.3(DMD):c.10666G>A (p.Ala3556Thr) rs2036843971
NM_004006.3(DMD):c.10797+6_10797+8del rs761754676
NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile) rs1555996685
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.10843_10845del (p.Ser3615del) rs751391426
NM_004006.3(DMD):c.10846A>C (p.Thr3616Pro) rs368996545
NM_004006.3(DMD):c.1084T>C (p.Leu362=) rs1556876311
NM_004006.3(DMD):c.10879A>G (p.Met3627Val) rs886044628
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.10961C>A (p.Thr3654Lys) rs2034876653
NM_004006.3(DMD):c.10969G>A (p.Glu3657Lys) rs2147774607
NM_004006.3(DMD):c.1097G>A (p.Gly366Glu) rs763144501
NM_004006.3(DMD):c.11015-6_11015-4del rs748344570
NM_004006.3(DMD):c.11022T>G (p.Asn3674Lys) rs398123849
NM_004006.3(DMD):c.11047-11_11047-10del rs751483072
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.1176T>C (p.His392=) rs1057521572
NM_004006.3(DMD):c.1233A>T (p.Lys411Asn) rs2059646376
NM_004006.3(DMD):c.1236A>T (p.Leu412Phe) rs2059646282
NM_004006.3(DMD):c.1254T>G (p.Thr418=) rs777002544
NM_004006.3(DMD):c.1274A>G (p.Asn425Ser) rs1449136689
NM_004006.3(DMD):c.1309G>A (p.Ala437Thr) rs748964279
NM_004006.3(DMD):c.1311T>G (p.Ala437=) rs398123855
NM_004006.3(DMD):c.1315A>G (p.Met439Val) rs1569373322
NM_004006.3(DMD):c.1378T>C (p.Leu460=) rs746640758
NM_004006.3(DMD):c.1514T>A (p.Val505Asp) rs2055459221
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) rs398123863
NM_004006.3(DMD):c.1537A>G (p.Met513Val) rs368326458
NM_004006.3(DMD):c.1597C>T (p.Leu533Phe) rs1556834538
NM_004006.3(DMD):c.1639A>G (p.Thr547Ala) rs2052707401
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser) rs766450050
NM_004006.3(DMD):c.1753A>G (p.Ile585Val) rs1085307667
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.1813-3C>T rs181399181
NM_004006.3(DMD):c.1851G>A (p.Met617Ile) rs1238073206
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.1877A>T (p.Asp626Val) rs1569214355
NM_004006.3(DMD):c.1879CTT[1] (p.Leu628del) rs767034345
NM_004006.3(DMD):c.1897A>T (p.Asn633Tyr) rs757047592
NM_004006.3(DMD):c.1911C>A (p.Thr637=) rs928561454
NM_004006.3(DMD):c.1956del (p.Asp652fs) rs886043640
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.1983T>C (p.Ser661=) rs1603636536
NM_004006.3(DMD):c.2008A>T (p.Thr670Ser) rs1476533504
NM_004006.3(DMD):c.2066C>A (p.Thr689Asn) rs2048861309
NM_004006.3(DMD):c.2084T>G (p.Leu695Arg) rs1556780761
NM_004006.3(DMD):c.2126A>T (p.Gln709Leu) rs370459675
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.2169-7_2169-4del rs746108360
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr) rs398123879
NM_004006.3(DMD):c.2222T>C (p.Val741Ala) rs886039135
NM_004006.3(DMD):c.224A>G (p.Asn75Ser) rs2080508805
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.3(DMD):c.2287G>A (p.Val763Ile) rs2046031052
NM_004006.3(DMD):c.2301G>T (p.Glu767Asp) rs2044086255
NM_004006.3(DMD):c.2318A>C (p.Lys773Thr) rs2044083706
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) rs794727226
NM_004006.3(DMD):c.2331G>C (p.Leu777=) rs369659071
NM_004006.3(DMD):c.2375T>C (p.Val792Ala) rs1014795303
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.2418A>T (p.Glu806Asp) rs1569564803
NM_004006.3(DMD):c.2421A>C (p.Gln807His) rs2042991906
NM_004006.3(DMD):c.245G>C (p.Arg82Pro) rs1228664222
NM_004006.3(DMD):c.2508T>C (p.Tyr836=) rs886044674
NM_004006.3(DMD):c.2518C>A (p.Gln840Lys) rs398123892
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.2607G>T (p.Gln869His) rs398123898
NM_004006.3(DMD):c.2629G>A (p.Val877Ile) rs774459142
NM_004006.3(DMD):c.265-438T>C rs1459975890
NM_004006.3(DMD):c.265-9_265-6del rs780278315
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.2667A>G (p.Arg889=) rs759593799
NM_004006.3(DMD):c.2714T>C (p.Met905Thr) rs1454170307
NM_004006.3(DMD):c.2717T>G (p.Phe906Cys) rs375557173
NM_004006.3(DMD):c.2720T>C (p.Leu907Pro) rs1060502654
NM_004006.3(DMD):c.2725G>A (p.Ala909Thr) rs1060502616
NM_004006.3(DMD):c.2734G>A (p.Val912Met) rs201549805
NM_004006.3(DMD):c.2745A>G (p.Thr915=) rs149922633
NM_004006.3(DMD):c.2761G>A (p.Val921Ile) rs746919167
NM_004006.3(DMD):c.2762T>G (p.Val921Gly) rs779873011
NM_004006.3(DMD):c.281T>C (p.Ile94Thr) rs2078436389
NM_004006.3(DMD):c.2822C>T (p.Pro941Leu) rs373914964
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg) rs2040732218
NM_004006.3(DMD):c.2846G>C (p.Ser949Thr) rs1057522383
NM_004006.3(DMD):c.2939G>T (p.Gly980Val) rs1057515875
NM_004006.3(DMD):c.2942A>G (p.Glu981Gly) rs1557374492
NM_004006.3(DMD):c.2949+2T>C rs2040709857
NM_004006.3(DMD):c.2949+5G>A rs1569564280
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.2968C>A (p.Gln990Lys) rs1233380601
NM_004006.3(DMD):c.29G>C (p.Cys10Ser) rs794726909
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala) rs370171367
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3119G>A (p.Cys1040Tyr) rs1603634202
NM_004006.3(DMD):c.3126G>C (p.Lys1042Asn) rs2040289618
NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro) rs2040288189
NM_004006.3(DMD):c.3163-1G>T rs2148428395
NM_004006.3(DMD):c.3177C>G (p.Thr1059=) rs755632126
NM_004006.3(DMD):c.3190A>G (p.Met1064Val) rs1281398911
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter) rs886039536
NM_004006.3(DMD):c.3271T>G (p.Cys1091Gly) rs1569563736
NM_004006.3(DMD):c.3306G>T (p.Gln1102His) rs2148419656
NM_004006.3(DMD):c.3311G>A (p.Ser1104Asn) rs1009754942
NM_004006.3(DMD):c.331A>C (p.Ile111Leu) rs2078431806
NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser) rs200596739
NM_004006.3(DMD):c.3331G>A (p.Gly1111Ser) rs2098390878
NM_004006.3(DMD):c.333T>C (p.Ile111=) rs138909301
NM_004006.3(DMD):c.3351T>C (p.Asn1117=) rs2148419029
NM_004006.3(DMD):c.3375G>C (p.Ser1125=) rs191164314
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.3603+15del rs5902031
NM_004006.3(DMD):c.3607G>A (p.Ala1203Thr) rs1569562950
NM_004006.3(DMD):c.365A>C (p.Asn122Thr) rs1603437369
NM_004006.3(DMD):c.3678T>G (p.Ala1226=) rs767458058
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.3718C>A (p.Leu1240Ile) rs1557362186
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.3800G>T (p.Cys1267Phe) rs2098280665
NM_004006.3(DMD):c.3806A>C (p.His1269Pro) rs775892814
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.3850G>A (p.Glu1284Lys) rs1557359192
NM_004006.3(DMD):c.3875C>T (p.Thr1292Ile) rs1603633538
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004006.3(DMD):c.3925C>T (p.Leu1309Phe) rs1060502642
NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu) rs2098269308
NM_004006.3(DMD):c.3967A>T (p.Ile1323Phe) rs770016783
NM_004006.3(DMD):c.3988C>T (p.Leu1330=) rs1557357523
NM_004006.3(DMD):c.3998G>A (p.Gly1333Asp) rs2098269163
NM_004006.3(DMD):c.4037C>T (p.Thr1346Ile) rs766890056
NM_004006.3(DMD):c.4059A>T (p.Glu1353Asp) rs1287715135
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr) rs753639717
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.4102A>G (p.Ser1368Gly) rs1557340477
NM_004006.3(DMD):c.4139A>G (p.His1380Arg) rs2098143120
NM_004006.3(DMD):c.4190T>C (p.Ile1397Thr) rs974271827
NM_004006.3(DMD):c.4214A>T (p.Gln1405Leu) rs2098142833
NM_004006.3(DMD):c.4289A>G (p.His1430Arg) rs1603632327
NM_004006.3(DMD):c.428G>T (p.Trp143Leu) rs1452761489
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu) rs1603632326
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.4323G>T (p.Leu1441=) rs777712150
NM_004006.3(DMD):c.4345-4dup rs1557322418
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.3(DMD):c.4409G>A (p.Arg1470His) rs752129019
NM_004006.3(DMD):c.4447A>G (p.Met1483Val) rs2147611951
NM_004006.3(DMD):c.445C>T (p.Arg149Cys) rs774139970
NM_004006.3(DMD):c.446G>C (p.Arg149Pro) rs771307588
NM_004006.3(DMD):c.4508A>C (p.Asn1503Thr) rs2097985832
NM_004006.3(DMD):c.4519-10T>G rs2097958853
NM_004006.3(DMD):c.4660G>A (p.Glu1554Lys) rs1216000876
NM_004006.3(DMD):c.4691A>G (p.Gln1564Arg) rs2097921065
NM_004006.3(DMD):c.4705T>C (p.Cys1569Arg) rs2097921010
NM_004006.3(DMD):c.4739T>G (p.Met1580Arg) rs764192677
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.4769C>T (p.Thr1590Ile) rs907514288
NM_004006.3(DMD):c.479C>A (p.Thr160Asn) rs748752465
NM_004006.3(DMD):c.4811C>G (p.Pro1604Arg) rs747218608
NM_004006.3(DMD):c.4852C>G (p.Gln1618Glu) rs1085307535
NM_004006.3(DMD):c.4858G>C (p.Glu1620Gln) rs1060502645
NM_004006.3(DMD):c.4882C>A (p.Leu1628Met) rs1172674386
NM_004006.3(DMD):c.4890T>A (p.Ser1630Arg) rs1603631755
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp) rs886044407
NM_004006.3(DMD):c.4953T>C (p.Asp1651=) rs764476153
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5068_5070del (p.His1690del) rs761764494
NM_004006.3(DMD):c.5195A>G (p.Asp1732Gly) rs2097842164
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.5253A>G (p.Lys1751=) rs1557303579
NM_004006.3(DMD):c.5279T>C (p.Leu1760Pro) rs2097841814
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.530+7_530+9del rs750507979
NM_004006.3(DMD):c.531-11_531-6del rs758404687
NM_004006.3(DMD):c.531-17ATGTGT[3] rs758404687
NM_004006.3(DMD):c.5326-11dup rs398123988
NM_004006.3(DMD):c.5336C>G (p.Pro1779Arg) rs2097771479
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5449-12_5449-10del rs745728411
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.5586+1G>A rs1557292599
NM_004006.3(DMD):c.5653C>A (p.Gln1885Lys) rs1295935628
NM_004006.3(DMD):c.5660A>G (p.Asp1887Gly) rs1239878805
NM_004006.3(DMD):c.5680G>C (p.Asp1894His) rs1288134740
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly) rs376202643
NM_004006.3(DMD):c.568C>T (p.Gln190Ter) rs2148751523
NM_004006.3(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.5750G>C (p.Arg1917Pro) rs760528813
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.579A>G (p.Thr193=) rs766344083
NM_004006.3(DMD):c.579A>T (p.Thr193=) rs766344083
NM_004006.3(DMD):c.5801A>T (p.Glu1934Val) rs878854620
NM_004006.3(DMD):c.582A>G (p.Gln194=) rs1603432096
NM_004006.3(DMD):c.5858G>A (p.Ser1953Asn) rs1430944728
NM_004006.3(DMD):c.5884A>C (p.Lys1962Gln) rs2097746777
NM_004006.3(DMD):c.5914G>T (p.Ala1972Ser) rs1351121628
NM_004006.3(DMD):c.5929G>C (p.Val1977Leu) rs1314263909
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.5942C>G (p.Thr1981Arg) rs140575687
NM_004006.3(DMD):c.5999A>T (p.Tyr2000Phe) rs1603630432
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.6082T>G (p.Phe2028Val) rs2097556386
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.6179C>T (p.Thr2060Ile) rs794729000
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser) rs1468473458
NM_004006.3(DMD):c.6212G>C (p.Arg2071Thr) rs774825173
NM_004006.3(DMD):c.6259A>G (p.Lys2087Glu) rs2148456625
NM_004006.3(DMD):c.6291-10T>C rs758023750
NM_004006.3(DMD):c.6296T>C (p.Phe2099Ser) rs1229763776
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.6375G>T (p.Gln2125His) rs766781970
NM_004006.3(DMD):c.6398C>A (p.Pro2133His) rs2097114550
NM_004006.3(DMD):c.6405T>C (p.Asn2135=) rs2147865207
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter) rs1425702864
NM_004006.3(DMD):c.6489T>C (p.Asn2163=) rs1057523928
NM_004006.3(DMD):c.6521C>T (p.Ser2174Leu) rs2095370109
NM_004006.3(DMD):c.652G>A (p.Val218Ile) rs1085307594
NM_004006.3(DMD):c.6535A>G (p.Ser2179Gly) rs1361261157
NM_004006.3(DMD):c.6557G>A (p.Gly2186Glu) rs2095369768
NM_004006.3(DMD):c.6614+7C>A rs180719577
NM_004006.3(DMD):c.6664G>A (p.Glu2222Lys) rs2094863563
NM_004006.3(DMD):c.6704G>A (p.Ser2235Asn) rs1316893006
NM_004006.3(DMD):c.6712C>G (p.Leu2238Val) rs2094862668
NM_004006.3(DMD):c.680C>T (p.Ser227Phe) rs746536387
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter) rs2094828872
NM_004006.3(DMD):c.6839G>A (p.Ser2280Asn) rs1060502614
NM_004006.3(DMD):c.6886A>G (p.Lys2296Glu) rs1828030875
NM_004006.3(DMD):c.7018C>T (p.Leu2340=) rs1189846429
NM_004006.3(DMD):c.7032A>G (p.Leu2344=) rs1556962392
NM_004006.3(DMD):c.7064A>G (p.Asn2355Ser) rs1366729351
NM_004006.3(DMD):c.7074C>T (p.Asn2358=) rs1556962301
NM_004006.3(DMD):c.7084C>T (p.Pro2362Ser) rs2093949947
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn) rs202090289
NM_004006.3(DMD):c.718C>A (p.Pro240Thr) rs2063897942
NM_004006.3(DMD):c.7200+53C>G rs1379871
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.7281A>T (p.Leu2427=) rs886038872
NM_004006.3(DMD):c.7288G>C (p.Gly2430Arg) rs200078222
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.7310-5T>G rs2090517382
NM_004006.3(DMD):c.731G>A (p.Ser244Asn) rs751368412
NM_004006.3(DMD):c.7366A>G (p.Ile2456Val) rs1467855560
NM_004006.3(DMD):c.7450G>C (p.Asp2484His) rs773102625
NM_004006.3(DMD):c.7543-17del rs754422509
NM_004006.3(DMD):c.7645A>G (p.Ile2549Val) rs1006232878
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.7701C>T (p.His2567=) rs1603445347
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln) rs371588290
NM_004006.3(DMD):c.7802C>T (p.Ala2601Val) rs892657975
NM_004006.3(DMD):c.793C>A (p.His265Asn) rs1603150210
NM_004006.3(DMD):c.80C>A (p.Ala27Glu) rs763407275
NM_004006.3(DMD):c.8150A>G (p.Asp2717Gly) rs886043271
NM_004006.3(DMD):c.8159G>C (p.Arg2720Pro) rs760495223
NM_004006.3(DMD):c.8217+18141AC[9] rs74965499
NM_004006.3(DMD):c.8218-2A>G rs886039478
NM_004006.3(DMD):c.8247A>C (p.Thr2749=) rs1176596333
NM_004006.3(DMD):c.828A>G (p.Gln276=) rs2063889616
NM_004006.3(DMD):c.8322G>T (p.Leu2774=) rs72466575
NM_004006.3(DMD):c.8333G>A (p.Arg2778His) rs2071050854
NM_004006.3(DMD):c.8348A>G (p.Asn2783Ser) rs760903823
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) rs863225012
NM_004006.3(DMD):c.8391-3C>G rs2069924068
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter) rs2147076500
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.8532G>A (p.Gln2844=) rs887532907
NM_004006.3(DMD):c.8547+18C>T rs755142909
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8678C>T (p.Pro2893Leu) rs2067979900
NM_004006.3(DMD):c.8723C>T (p.Ala2908Val) rs2067972248
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.8794A>T (p.Thr2932Ser) rs2067958322
NM_004006.3(DMD):c.881C>T (p.Pro294Leu) rs2063777083
NM_004006.3(DMD):c.8866A>C (p.Ile2956Leu) rs1032522152
NM_004006.3(DMD):c.891G>T (p.Lys297Asn) rs1569467457
NM_004006.3(DMD):c.8925C>G (p.Leu2975=) rs374063420
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.8960C>T (p.Pro2987Leu) rs2149075905
NM_004006.3(DMD):c.8973C>T (p.Asn2991=) rs772306909
NM_004006.3(DMD):c.8999G>T (p.Arg3000Leu) rs772695216
NM_004006.3(DMD):c.9017G>A (p.Gly3006Asp) rs1426562530
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys) rs769658853
NM_004006.3(DMD):c.9150G>T (p.Gln3050His) rs1352900858
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) rs863225015
NM_004006.3(DMD):c.9225-607C>A rs35710613
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004006.3(DMD):c.925A>T (p.Thr309Ser) rs2063773668
NM_004006.3(DMD):c.9299A>G (p.Asn3100Ser) rs794729002
NM_004006.3(DMD):c.929C>T (p.Ser310Phe) rs2063773395
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.9352G>A (p.Ala3118Thr) rs200928985
NM_004006.3(DMD):c.9361+1G>A rs398124094
NM_004006.3(DMD):c.9361+6_9361+11del rs1395653580
NM_004006.3(DMD):c.9362-3C>T rs752816247
NM_004006.3(DMD):c.9396C>T (p.Ala3132=) rs1556282217
NM_004006.3(DMD):c.94-9dup rs3834997
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.941G>T (p.Arg314Leu) rs751164104
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.947C>T (p.Pro316Leu) rs1569467334
NM_004006.3(DMD):c.9563+1245T>G rs1921709
NM_004006.3(DMD):c.9563+1301T>C rs5927706
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.961-5853C>T rs5972633
NM_004006.3(DMD):c.961-5978_961-5977insAGG rs200672281
NM_004006.3(DMD):c.961-5981A>T rs112213679
NM_004006.3(DMD):c.9786T>C (p.Ser3262=) rs1052771260
NM_004006.3(DMD):c.9812A>G (p.Asn3271Ser) rs980324619
NM_004006.3(DMD):c.9833C>T (p.Ala3278Val) rs2041311291
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.986C>T (p.Ser329Leu) rs2059701389
NM_004553.6(NDUFS6):c.67C>T (p.Leu23=) rs1014264454
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp) rs2133024785
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg) rs1828512489
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp) rs1299435942
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser) rs139347806
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr) rs1828371895
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.498G>C (p.Gln166His) rs1829863461
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005476.7(GNE):c.79C>T (p.Pro27Ser) rs1554664064
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032
NM_017739.4(POMGNT1):c.*2A>T rs1188540095
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1111-10C>A rs1277266739
NM_017739.4(POMGNT1):c.1111-7C>T rs1414733588
NM_017739.4(POMGNT1):c.120+2T>A rs1658353874
NM_017739.4(POMGNT1):c.121-6C>T rs558052679
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn) rs1657843296
NM_017739.4(POMGNT1):c.1413+6T>G rs1160554172
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) rs1253221637
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr) rs753688195
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser) rs1553164303
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) rs1657576580
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp) rs763071717
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp) rs1352412667
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln) rs779506923
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) rs6659553
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile) rs199723646
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu) rs373866304
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His) rs527454065
NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro) rs764809782
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_017739.4(POMGNT1):c.421-3C>T rs1658202678
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) rs949714416
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala) rs766907690
NM_024120.5(NDUFAF5):c.114C>A (p.Ser38Arg) rs369277594
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] rs749228752
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) rs768566143
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe) rs375461797
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr) rs982005875
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) rs140217866
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) rs1230638385
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) rs764311774
NM_024301.5(FKRP):c.1368C>T (p.Gly456=) rs1599940206
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) rs1060502108
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) rs1424035060
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) rs2054894857
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) rs1473327480
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) rs900304726
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) rs1008630400
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln) rs755316345
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser) rs543163491
NM_024301.5(FKRP):c.561C>G (p.Ala187=) rs771770302
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.777C>T (p.Arg259=) rs766086486
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp) rs1414659732
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg) rs756205019
NM_024301.5(FKRP):c.849G>A (p.Arg283=) rs2054920441
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) rs28937901
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg) rs561744467
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731

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