ClinVar Miner

List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5590
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.*691A>T rs10972791 0.11652
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090 0.02639
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02476
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_213599.3(ANO5):c.*279G>A rs72982058 0.02298
NM_139343.2(BIN1):c.*501G>A rs77059199 0.02237
NM_213599.3(ANO5):c.*3168C>T rs35892535 0.01843
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001025389.2(AMPD3):c.*287T>C rs76318574 0.01748
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_213599.3(ANO5):c.*2095G>A rs142192440 0.01610
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_213599.3(ANO5):c.*3155T>C rs78929863 0.01340
NM_004553.4(NDUFS6):c.-12C>T rs145747389 0.01272
NM_001256545.2(MEGF10):c.*357T>G rs78940206 0.01270
NM_213599.3(ANO5):c.*1328C>T rs78089375 0.01250
NM_213599.3(ANO5):c.-261A>C rs114897158 0.01250
NM_213599.3(ANO5):c.*1661C>T rs12284506 0.01249
NM_000070.3(CAPN3):c.-104G>C rs149698681 0.01241
NM_213599.3(ANO5):c.*930C>T rs78428314 0.01204
NM_004544.4(NDUFA10):c.*2133A>G rs6736791 0.01130
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_001077365.2(POMT1):c.*338T>G rs193003183 0.00971
NM_025152.3(NUBPL):c.*806A>G rs139044047 0.00955
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_025152.3(NUBPL):c.*736C>G rs111321293 0.00901
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_000023.4(SGCA):c.*134del rs201486782 0.00891
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=) rs113794264 0.00845
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) rs146562956 0.00828
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988 0.00827
NM_001079802.2(FKTN):c.*4491T>C rs41316524 0.00811
NM_001164508.2(NEB):c.*212T>C rs1061317 0.00811
NM_004544.4(NDUFA10):c.*647C>T rs116254382 0.00794
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_003673.4(TCAP):c.*395C>T rs45540732 0.00792
NM_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_007103.3(NDUFV1):c.-74T>C rs373383800 0.00728
NM_213599.3(ANO5):c.*3350T>G rs144806967 0.00723
NM_213599.3(ANO5):c.*2357A>T rs151218419 0.00715
NM_004544.4(NDUFA10):c.*1453G>A rs192964209 0.00706
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_001256545.2(MEGF10):c.*1312G>A rs76555555 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972 0.00667
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_003283.6(TNNT1):c.310-14T>C rs115663668 0.00636
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_005006.7(NDUFS1):c.-75A>G rs138818421 0.00612
NM_001256545.2(MEGF10):c.*2549G>C rs75434042 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_213599.3(ANO5):c.*2869A>G rs115249135 0.00608
NM_001377299.1(NDUFS2):c.1212+7A>G rs36233987 0.00606
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_001377299.1(NDUFS2):c.514+11C>T rs76309459 0.00593
NM_001256545.2(MEGF10):c.*1296T>A rs55857193 0.00591
NM_001256545.2(MEGF10):c.*2485G>T rs141495648 0.00589
NM_001256545.2(MEGF10):c.*4C>G rs73783802 0.00588
NM_007103.4(NDUFV1):c.326+12G>A rs184136353 0.00588
NM_000540.3(RYR1):c.-69T>G rs886054377 0.00582
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His) rs78847357 0.00577
NM_001256545.2(MEGF10):c.489C>T (p.Ile163=) rs34649270 0.00577
NM_001256545.2(MEGF10):c.*3175G>A rs76059053 0.00574
NM_001256545.2(MEGF10):c.*933C>G rs17164927 0.00571
NM_001256545.2(MEGF10):c.*2098G>A rs79556392 0.00554
NM_001025389.2(AMPD3):c.*75C>T rs59351157 0.00550
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_001256545.2(MEGF10):c.*2066A>G rs112337118 0.00522
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_001042631.3(SDHAF1):c.*229C>T rs144661239 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=) rs36061366 0.00492
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001256545.2(MEGF10):c.*1028G>A rs186303123 0.00488
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_005198.5(CHKB):c.*208T>G rs41281533 0.00481
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_001256545.2(MEGF10):c.*3566G>T rs139305981 0.00478
NM_001025389.2(AMPD3):c.426+8G>A rs150321693 0.00477
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_004544.3(NDUFA10):c.-92C>T rs559797625 0.00474
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_001267550.2(TTN):c.*587T>A rs114788736 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_004544.3(NDUFA10):c.-93G>T rs577432343 0.00460
NM_005006.7(NDUFS1):c.*341A>G rs150214409 0.00460
NM_004168.4(SDHA):c.*249T>C rs189989110 0.00459
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_004550.5(NDUFS2):c.-223C>G rs74124661 0.00446
NM_004550.5(NDUFS2):c.-298C>G rs41270845 0.00436
NM_003673.4(TCAP):c.*54G>A rs45592941 0.00433
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_000334.4(SCN4A):c.*129G>T rs140026321 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_004281.4(BAG3):c.-294A>C rs544280047 0.00385
NM_138638.5(CFL2):c.*1036G>A rs150492527 0.00379
NM_014165.4(NDUFAF4):c.*482A>G rs56240093 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_003673.4(TCAP):c.*199G>T rs45503594 0.00371
NM_005006.7(NDUFS1):c.*426T>G rs114402169 0.00369
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_213599.3(ANO5):c.*622G>A rs185108747 0.00343
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_004553.6(NDUFS6):c.*46C>T rs145407020 0.00336
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_133642.5(LARGE1):c.-399A>T rs535216289 0.00327
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001377299.1(NDUFS2):c.*108A>T rs191955041 0.00316
NM_012210.4(TRIM32):c.*1077C>T rs41266677 0.00314
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.*201A>T rs190132249 0.00311
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_000070.3(CAPN3):c.-131G>T rs113881834 0.00309
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_017547.4(FOXRED1):c.*432T>G rs185024577 0.00304
NM_003283.6(TNNT1):c.*110T>C rs147109223 0.00303
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001267550.2(TTN):c.*1015A>G rs72629798 0.00294
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_001079802.2(FKTN):c.*3861T>C rs185745657 0.00292
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) rs34313388 0.00292
NM_004544.4(NDUFA10):c.*925C>G rs149563558 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_025152.3(NUBPL):c.*301G>T rs189475622 0.00290
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_004281.4(BAG3):c.-293T>A rs557535632 0.00284
NM_004544.4(NDUFA10):c.*1943A>G rs148829605 0.00283
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_199069.1(NDUFAF3):c.-241C>T rs573066357 0.00274
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001377299.1(NDUFS2):c.1355-4C>G rs147235167 0.00265
NM_013382.7(POMT2):c.*176C>T rs143803905 0.00265
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_001256545.2(MEGF10):c.*3615G>A rs149991413 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_001256545.2(MEGF10):c.303C>T (p.Ser101=) rs77203884 0.00260
NM_014165.4(NDUFAF4):c.*782T>C rs190211537 0.00260
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_017547.3(FOXRED1):c.-163G>C rs552937899 0.00259
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_152263.4(TPM3):c.*5640C>T rs564296987 0.00257
NM_000334.4(SCN4A):c.*1324T>C rs544883913 0.00256
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_004168.4(SDHA):c.*133G>C rs193112615 0.00255
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388 0.00255
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001256545.2(MEGF10):c.*2519G>A rs187089787 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_004544.4(NDUFA10):c.*546G>A rs192485848 0.00252
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001025389.2(AMPD3):c.*1245G>A rs114908387 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NC_000002.12:g.26244826T>C rs749979964 0.00249
NM_003673.4(TCAP):c.*76G>T rs45506294 0.00248
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001256545.2(MEGF10):c.*601C>T rs146027479 0.00246
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=) rs146075981 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648 0.00243
NM_001256545.2(MEGF10):c.*1387A>G rs143870753 0.00242
NM_001256545.2(MEGF10):c.-18-11C>T rs138523651 0.00240
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180 0.00237
NM_005476.7(GNE):c.*1660A>G rs185870650 0.00237
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001256545.2(MEGF10):c.*192A>T rs151022976 0.00235
NM_001256545.2(MEGF10):c.*52G>T rs182533165 0.00235
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_014165.4(NDUFAF4):c.*294T>G rs555318888 0.00233
NM_152263.4(TPM3):c.*656C>T rs12064261 0.00233
NM_001377299.1(NDUFS2):c.866+8G>A rs142594036 0.00231
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=) rs139929890 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu) rs116500162 0.00227
NM_213599.3(ANO5):c.*1967G>A rs147606218 0.00226
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_004550.5(NDUFS2):c.-346G>A rs189165754 0.00223
NM_001025389.2(AMPD3):c.*1221T>C rs139597662 0.00222
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_004544.4(NDUFA10):c.*372C>T rs143693330 0.00222
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_004281.4(BAG3):c.-95G>A rs111750619 0.00218
NM_213599.3(ANO5):c.*1712T>C rs530413127 0.00216
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073 0.00215
NM_004544.4(NDUFA10):c.*1161C>T rs184925264 0.00213
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_001025389.2(AMPD3):c.*327G>C rs146002789 0.00212
NM_001079802.2(FKTN):c.-88-6T>C rs115730708 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=) rs35159176 0.00207
NM_199069.1(NDUFAF3):c.-126G>C rs75749590 0.00207
NM_199069.1(NDUFAF3):c.-127G>C rs74601553 0.00207
NM_001164508.2(NEB):c.20466+11A>G rs181826071 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_004544.4(NDUFA10):c.*632G>A rs189306598 0.00206
NM_004544.4(NDUFA10):c.-38T>G rs374970309 0.00206
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_004550.5(NDUFS2):c.-20C>T rs201554004 0.00203
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001079802.2(FKTN):c.-96T>C rs151250905 0.00201
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_175614.4(NDUFA11):c.-83G>C rs562075121 0.00199
NM_021074.5(NDUFV2):c.-30G>T rs139650842 0.00198
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219 0.00194
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_012210.4(TRIM32):c.*1152A>G rs557939030 0.00190
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765 0.00187
NM_001164508.2(NEB):c.11076+12A>G rs201250579 0.00186
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_004544.4(NDUFA10):c.*3141C>T rs144864637 0.00185
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_021074.5(NDUFV2):c.-13A>G rs369562850 0.00182
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_025215.5(PUS1):c.-453C>T rs551126678 0.00180
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg) rs140563851 0.00178
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_004550.5(NDUFS2):c.-218G>A rs563669084 0.00175
NM_016013.4(NDUFAF1):c.-205G>C rs190265352 0.00175
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_013382.7(POMT2):c.*606G>A rs141262145 0.00173
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_213599.3(ANO5):c.-210G>C rs181864243 0.00172
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser) rs75783175 0.00171
NM_007126.5(VCP):c.*1040T>C rs188935092 0.00171
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168 0.00171
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_004544.4(NDUFA10):c.*2242T>C rs111969519 0.00170
NM_001079802.2(FKTN):c.*3460G>A rs539474742 0.00168
NM_152263.4(TPM3):c.*3819G>A rs190553185 0.00168
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366 0.00167
NM_001079802.2(FKTN):c.*3918A>G rs17316607 0.00167
NM_001100.4(ACTA1):c.*248G>A rs551585351 0.00167
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_139343.2(BIN1):c.-314G>C rs531361957 0.00163
NM_012210.4(TRIM32):c.*512A>T rs144172952 0.00160
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_001025389.2(AMPD3):c.1569T>G (p.Phe523Leu) rs146000615 0.00157
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001025389.2(AMPD3):c.-25C>T rs576679601 0.00150
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_133642.5(LARGE1):c.-480C>T rs886057469 0.00148
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_004544.4(NDUFA10):c.*1198G>A rs143353868 0.00145
NM_152263.4(TPM3):c.*4095G>A rs559852699 0.00145
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012 0.00143
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_005138.3(SCO2):c.-114G>C rs554814235 0.00142
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_005006.7(NDUFS1):c.*561T>C rs146538309 0.00141
NM_000540.3(RYR1):c.*135C>T rs188314477 0.00140
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_001256545.2(MEGF10):c.*2630A>G rs548781667 0.00138
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00138
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378 0.00138
NM_182914.3(SYNE2):c.-169C>T rs886050575 0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001256545.2(MEGF10):c.*2663T>C rs568875554 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=) rs143456239 0.00136
NM_152263.4(TPM3):c.*5440A>C rs12064494 0.00136
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_002488.4(NDUFA2):c.-50G>A rs143857164 0.00135
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001164508.2(NEB):c.24874-8C>T rs200902944 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_133642.5(LARGE1):c.-455G>A rs532736408 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_007171.3(POMT1):c.*694G>A rs550900373 0.00133
NM_004544.4(NDUFA10):c.*1879G>A rs143421241 0.00132
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_133642.5(LARGE1):c.*100C>A rs567278765 0.00131
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=) rs146902993 0.00129
NM_152263.4(TPM3):c.*5577C>T rs886045287 0.00129
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_001077365.2(POMT1):c.-168G>C rs556267289 0.00127
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00126
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418 0.00121
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_017547.4(FOXRED1):c.*159C>T rs570233921 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_138638.5(CFL2):c.*1507C>T rs139087926 0.00118
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_001256545.2(MEGF10):c.2857-8T>G rs201148765 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_004544.4(NDUFA10):c.*1915G>A rs144590599 0.00117
NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser) rs144613367 0.00116
NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=) rs114704569 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_025152.3(NUBPL):c.256+14T>C rs377077969 0.00113
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
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_001164508.2(NEB):c.*57C>T rs566096042 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_013382.7(POMT2):c.*1603C>T rs139267307 0.00111
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743 0.00111
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_007103.4(NDUFV1):c.72+15G>T rs187400726 0.00109
NM_133642.5(LARGE1):c.-481G>T rs537756491 0.00109
NM_000334.4(SCN4A):c.*2170G>A rs569759069 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_001025389.1(AMPD3):c.-200G>A rs180772894 0.00108
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_014165.4(NDUFAF4):c.*459A>G rs560563894 0.00108
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_013382.7(POMT2):c.*2072C>T rs558857629 0.00107
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_000334.4(SCN4A):c.*2150C>A rs182791237 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_001164508.2(NEB):c.21840+13A>C rs75515097 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_213599.3(ANO5):c.*817A>G rs551128567 0.00104
NM_017547.4(FOXRED1):c.417+10A>G rs180800246 0.00103
NM_001164508.2(NEB):c.18262-13C>T rs374553944 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273 0.00100
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_000334.4(SCN4A):c.*2072G>A rs192346663 0.00099
NM_004544.4(NDUFA10):c.*3095A>G rs576198967 0.00099
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591 0.00098
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_004553.6(NDUFS6):c.*15C>T rs200445799 0.00096
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_005476.7(GNE):c.-102G>C rs1053014986 0.00095
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=) rs371612136 0.00093
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374 0.00093
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928 0.00093
NM_133642.5(LARGE1):c.-271G>A rs185068235 0.00093
NM_152263.4(TPM3):c.*4806A>C rs186291812 0.00093
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_001077365.2(POMT1):c.*182T>C rs535816758 0.00091
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_004544.4(NDUFA10):c.*2659A>C rs559550890 0.00091
NM_025152.3(NUBPL):c.*188T>C rs569141248 0.00091
NM_138638.5(CFL2):c.*541A>G rs144345993 0.00091
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_005198.5(CHKB):c.670A>C (p.Asn224His) rs149858290 0.00088
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551 0.00086
NM_001256545.2(MEGF10):c.*164G>A rs187806833 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_003283.6(TNNT1):c.750+15C>T rs138664823 0.00086
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg) rs140201636 0.00083
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_013382.7(POMT2):c.*758G>A rs371632843 0.00083
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401 0.00083
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_001025389.2(AMPD3):c.1080C>T (p.Asp360=) rs139511483 0.00081
NM_001256545.2(MEGF10):c.117-5_117-4insC rs538399152 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_014165.4(NDUFAF4):c.*119T>C rs113099906 0.00081
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=) rs368560744 0.00080
NM_001256545.2(MEGF10):c.1975+10G>A rs148814585 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) rs141107290 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_003863.3(DPM2):c.-587C>T rs566910080 0.00077
NM_001256545.2(MEGF10):c.1130+3G>A rs115184652 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_005138.3(SCO2):c.341G>A (p.Arg114His) rs145100473 0.00076
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_001025389.2(AMPD3):c.974A>G (p.Asn325Ser) rs147246880 0.00075
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_001377299.1(NDUFS2):c.628-12C>T rs202121443 0.00075
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500 0.00075
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_001164508.2(NEB):c.5763+15C>T rs148455519 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_004544.4(NDUFA10):c.*3347C>T rs537694779 0.00072
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799 0.00072
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_014165.4(NDUFAF4):c.*690G>A rs181915821 0.00071
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) rs201412882 0.00071
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_005476.7(GNE):c.*1728C>T rs41277097 0.00070
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_024407.5(NDUFS7):c.*16C>T rs573586959 0.00069
NM_001079802.2(FKTN):c.*1010G>A rs144159266 0.00068
NM_001256545.2(MEGF10):c.*3191A>T rs188780004 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_003289.4(TPM2):c.*194C>T rs561175276 0.00068
NM_004281.4(BAG3):c.*402T>C rs541591765 0.00068
NM_012210.4(TRIM32):c.*84A>C rs571526516 0.00068
NM_013382.7(POMT2):c.-142C>T rs886050827 0.00068
NM_025152.3(NUBPL):c.*344T>C rs572496732 0.00067
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_001025389.2(AMPD3):c.423C>T (p.Ala141=) rs117002871 0.00066
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760 0.00066
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_002496.3(NDUFS8):c.-76C>T rs544094420 0.00065
NM_012210.4(TRIM32):c.*229C>T rs770788386 0.00065
NM_152263.4(TPM3):c.*2152C>T rs1363684144 0.00065
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_001025389.2(AMPD3):c.1728C>T (p.Arg576=) rs150947905 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_003863.3(DPM2):c.-429G>T rs192275912 0.00064
NM_007103.4(NDUFV1):c.-45T>G rs373940385 0.00064
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022 0.00064
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958 0.00064
NM_025152.3(NUBPL):c.*1940A>C rs149945695 0.00064
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_004544.4(NDUFA10):c.*1303C>T rs575940810 0.00063
NM_004544.4(NDUFA10):c.*2297T>G rs773090030 0.00063
NM_021074.4(NDUFV2):c.-94A>T rs552940397 0.00063
NM_058246.4(DNAJB6):c.*610C>T rs886062134 0.00063
NM_058246.4(DNAJB6):c.*934C>T rs886062136 0.00063
NM_001079802.2(FKTN):c.*712C>T rs535353095 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_015713.5(RRM2B):c.*1510T>C rs577176343 0.00062
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_003863.3(DPM2):c.*627C>T rs544907409 0.00061
NM_138638.5(CFL2):c.*1759A>G rs539503694 0.00061
NM_001025389.2(AMPD3):c.283G>A (p.Asp95Asn) rs149433198 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_152263.4(TPM3):c.*3756C>A rs555633635 0.00060
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_001025389.2(AMPD3):c.1267-3C>T rs369778695 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_133642.5(LARGE1):c.-194G>A rs530725597 0.00059
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_001173464.2(KIF21A):c.*582G>A rs767760567 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_005476.7(GNE):c.*2679G>A rs566044462 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser) rs78119534 0.00057
NM_001079802.2(FKTN):c.-77A>G rs188804693 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_005006.7(NDUFS1):c.*438C>T rs561980718 0.00057
NM_018834.6(MATR3):c.*1757T>C rs191196444 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_152263.4(TPM3):c.*999G>A rs565913061 0.00057
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00056
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.40634-9A>G rs373511249 0.00056
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn) rs201567815 0.00056
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser) rs199891245 0.00056
NM_001079802.2(FKTN):c.*100G>A rs542491025 0.00055
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001256545.2(MEGF10):c.*1094A>T rs547236825 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=) rs138565447 0.00054
NM_004544.4(NDUFA10):c.*1482C>G rs557576958 0.00054
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819 0.00053
NM_016013.4(NDUFAF1):c.-165C>T rs561102841 0.00053
NM_199189.2(MATR3):c.-649C>T rs779721416 0.00053
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001256545.2(MEGF10):c.259A>G (p.Met87Val) rs41298304 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_001849.4(COL6A2):c.791G>A (p.Arg264His) rs148029276 0.00052
NM_005006.7(NDUFS1):c.*151T>C rs533179154 0.00052
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met) rs370446082 0.00051
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808 0.00051
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_199069.2(NDUFAF3):c.*98A>G rs117051791 0.00050
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_001025389.2(AMPD3):c.1445C>T (p.Ser482Leu) rs144107914 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_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015 0.00049
NM_005006.7(NDUFS1):c.*938C>T rs780498090 0.00049
NM_012210.4(TRIM32):c.-109T>C rs886063378 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_025152.3(NUBPL):c.-13A>G rs754769393 0.00049
NM_213599.3(ANO5):c.*3077G>C rs184295328 0.00049
NM_001025389.2(AMPD3):c.885C>T (p.Ser295=) rs149271802 0.00048
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_213599.3(ANO5):c.*2947A>T rs764082792 0.00048
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_001135254.2(PAX7):c.644G>A (p.Arg215His) rs200575057 0.00047
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_138638.5(CFL2):c.*281A>G rs761508275 0.00047
NM_152263.4(TPM3):c.*157C>T rs144482403 0.00047
NM_152263.4(TPM3):c.*4302A>G rs886045298 0.00047
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) rs201272728 0.00046
NM_014165.4(NDUFAF4):c.*1368A>G rs563778638 0.00046
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_139343.3(BIN1):c.*22C>T rs200108564 0.00046
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001173464.2(KIF21A):c.*451A>G rs183559712 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928 0.00045
NM_152263.4(TPM3):c.*1077A>C rs557217738 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His) rs765789028 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_004544.4(NDUFA10):c.*2149C>T rs570872300 0.00044
NM_006790.3(MYOT):c.*311A>T rs966703412 0.00044
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315 0.00044
NM_017641.3(KIF21A):c.-345G>A rs886049353 0.00044
NM_000070.3(CAPN3):c.*202A>G rs886051150 0.00043
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_007126.5(VCP):c.*367G>A rs768675930 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_199069.1(NDUFAF3):c.-363C>G rs760652685 0.00043
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_001025389.2(AMPD3):c.1771G>A (p.Gly591Ser) rs142086203 0.00042
NM_001164508.2(NEB):c.2107-8C>T rs369441230 0.00042
NM_001256545.2(MEGF10):c.-152A>G rs146523995 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471 0.00042
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745 0.00042
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_001042631.3(SDHAF1):c.*682A>T rs554739627 0.00041
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_016013.4(NDUFAF1):c.-352C>T rs532681188 0.00041
NM_139343.3(BIN1):c.*303A>G rs766515815 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_001256545.2(MEGF10):c.669T>A (p.Asp223Glu) rs142221815 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=) rs149953813 0.00040
NM_002496.4(NDUFS8):c.*44C>T rs201815115 0.00040
NM_012210.4(TRIM32):c.-124G>A rs752864284 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_007103.4(NDUFV1):c.155+12C>T rs199963966 0.00039
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_015713.5(RRM2B):c.*869G>T rs771055735 0.00039
NM_133642.5(LARGE1):c.*823_*824dup rs140177888 0.00039
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=) rs370750044 0.00038
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg) rs143975327 0.00038
NM_002496.4(NDUFS8):c.200-14C>T rs373128833 0.00038
NM_003863.4(DPM2):c.*553G>A rs886063480 0.00038
NM_016013.4(NDUFAF1):c.-137C>T rs369431865 0.00038
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131 0.00038
NM_001077365.2(POMT1):c.*613C>T rs551579745 0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_025215.6(PUS1):c.-244G>C rs886049091 0.00037
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) rs202104160 0.00037
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259 0.00036
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018 0.00036
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00036
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001267550.2(TTN):c.*623G>A rs778009328 0.00036
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_004544.4(NDUFA10):c.*1992C>T rs373034894 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_006790.3(MYOT):c.*372G>A rs1029781405 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000334.4(SCN4A):c.*1069G>A rs368616841 0.00035
NM_001101362.3(KBTBD13):c.*1582C>T rs111882334 0.00035
NM_001164508.2(NEB):c.20466+7G>A rs201684605 0.00035
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_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_007126.5(VCP):c.*700C>A rs537730311 0.00035
NM_152263.4(TPM3):c.*6097G>T rs576691614 0.00035
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000334.4(SCN4A):c.*780G>T rs562146322 0.00034
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_001256545.2(MEGF10):c.*941A>G rs538168537 0.00034
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) rs201625116 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_003673.4(TCAP):c.*297C>T rs772638575 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_013382.7(POMT2):c.*196G>A rs773072355 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_025152.3(NUBPL):c.*1053G>A rs546991443 0.00034
NM_025152.3(NUBPL):c.*357C>G rs576520205 0.00034
NM_138638.5(CFL2):c.*738A>G rs188669360 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_182914.3(SYNE2):c.*315C>T rs183982306 0.00034
NM_182961.4(SYNE1):c.*433A>G rs886061189 0.00034
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_004551.3(NDUFS3):c.*32G>A rs189495301 0.00033
NM_005476.7(GNE):c.*446C>T rs886063924 0.00033
NM_013382.7(POMT2):c.*1805G>A rs184473107 0.00033
NM_133642.5(LARGE1):c.*998A>G rs886057455 0.00033
NM_175614.5(NDUFA11):c.*59C>G rs191571307 0.00033
NM_213599.3(ANO5):c.*1757A>C rs886048136 0.00033
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_001256545.2(MEGF10):c.1841-5T>C rs372378202 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_004320.6(ATP2A1):c.1185-11C>T rs780795453 0.00032
NM_012210.4(TRIM32):c.*177C>T rs149956877 0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00031
NM_004168.4(SDHA):c.*179G>A rs980815395 0.00031
NM_004281.4(BAG3):c.-86G>A rs913687992 0.00031
NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser) rs185041245 0.00031
NM_004544.3(NDUFA10):c.-87A>C rs886055827 0.00031
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_016013.4(NDUFAF1):c.-293C>T rs760649120 0.00031
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_005198.5(CHKB):c.275C>T (p.Pro92Leu) rs140867913 0.00030
NM_213599.3(ANO5):c.*2207A>T rs143147634 0.00030
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149 0.00029
NM_001025389.2(AMPD3):c.498G>A (p.Ala166=) rs147701905 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.22647G>A (p.Glu7549=) rs201688876 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_001267550.2(TTN):c.*968T>C rs772669140 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_004320.6(ATP2A1):c.*103C>T rs368850176 0.00029
NM_133642.5(LARGE1):c.*798G>A rs778063005 0.00029
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960 0.00029
NM_199069.2(NDUFAF3):c.271-10C>G rs200789117 0.00029
NM_000070.3(CAPN3):c.*237A>G rs753401049 0.00028
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000183.3(HADHB):c.*43C>T rs192988436 0.00028
NM_000183.3(HADHB):c.640G>A (p.Val214Ile) rs149693931 0.00028
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_001025389.2(AMPD3):c.427-13C>T rs374707086 0.00028
NM_001130987.2(DYSF):c.*78C>T rs367543759 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=) rs199730497 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.28463-14G>A rs200917885 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_001025389.2(AMPD3):c.*1520A>G rs548862296 0.00027
NM_001256545.2(MEGF10):c.*3770A>G rs961838268 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.30433+15A>T rs371872220 0.00027
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_003863.3(DPM2):c.-211T>G rs187834148 0.00027
NM_004544.4(NDUFA10):c.*679A>G rs374065697 0.00027
NM_017547.4(FOXRED1):c.*374T>G rs576196293 0.00027
NM_025215.6(PUS1):c.*152A>T rs188546423 0.00027
NM_138638.5(CFL2):c.*1810T>A rs763550520 0.00027
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_001025389.2(AMPD3):c.1513A>G (p.Ile505Val) rs141457480 0.00026
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_001130987.2(DYSF):c.*75C>T rs374833260 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001849.4(COL6A2):c.2423-9C>G rs368725753 0.00026
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00026
NM_005476.7(GNE):c.*582A>G rs999645453 0.00026
NM_015713.5(RRM2B):c.*3266G>T rs746260787 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_138638.5(CFL2):c.*995T>C rs749572493 0.00026
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_001101362.3(KBTBD13):c.*684C>T rs549339931 0.00025
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001256545.2(MEGF10):c.*1170G>A rs533979647 0.00025
NM_001256545.2(MEGF10):c.*3267G>C rs750922449 0.00025
NM_001267550.2(TTN):c.*59G>A rs72629795 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_025215.6(PUS1):c.*164C>T rs554815640 0.00025
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_139343.3(BIN1):c.*418C>T rs779551565 0.00025
NM_152263.4(TPM3):c.*4443G>T rs139123540 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001267550.2(TTN):c.*141T>G rs781617834 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.48461-11A>G rs371040291 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001927.4(DES):c.*280G>A rs925513578 0.00024
NM_003863.3(DPM2):c.-612G>C rs886063487 0.00024
NM_004544.4(NDUFA10):c.*1206G>A rs192203978 0.00024
NM_004544.4(NDUFA10):c.*1245G>A rs187916829 0.00024
NM_004544.4(NDUFA10):c.*2685C>A rs114807372 0.00024
NM_013382.7(POMT2):c.*622C>G rs886050819 0.00024
NM_025152.3(NUBPL):c.*850C>T rs370650416 0.00024
NM_152263.4(TPM3):c.*4541T>A rs886045294 0.00024
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179 0.00024
NM_001101362.3(KBTBD13):c.*403C>A rs748599461 0.00023
NM_001151.4(SLC25A4):c.*1546T>C rs762473759 0.00023
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261 0.00023
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=) rs145959971 0.00023
NM_004544.4(NDUFA10):c.*183C>T rs112660586 0.00023
NM_005006.7(NDUFS1):c.-64T>C rs145023130 0.00023
NM_007126.5(VCP):c.-250C>T rs886063894 0.00023
NM_133642.5(LARGE1):c.*155C>T rs551266967 0.00023
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=) rs377282283 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.54811+15G>A rs201450276 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_004168.4(SDHA):c.-2A>T rs763680697 0.00022
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) rs146163970 0.00022
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777 0.00022
NM_013382.7(POMT2):c.*2165T>C rs770272986 0.00022
NM_014165.4(NDUFAF4):c.*986A>C rs192839240 0.00022
NM_152263.4(TPM3):c.*5755A>G rs777522493 0.00022
NM_000070.3(CAPN3):c.*265C>T rs74009086 0.00021
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_001025389.2(AMPD3):c.1066C>T (p.Arg356Trp) rs149809940 0.00021
NM_001025389.2(AMPD3):c.408C>T (p.Ser136=) rs542609298 0.00021
NM_001040436.3(YARS2):c.*24A>G rs368305831 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) rs376613199 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) rs141187412 0.00021
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_005006.7(NDUFS1):c.*966A>G rs755776989 0.00021
NM_133642.5(LARGE1):c.*699G>A rs760092745 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_152263.4(TPM3):c.*962C>T rs564047493 0.00021
NM_182961.4(SYNE1):c.*101C>T rs571719631 0.00021
NM_182961.4(SYNE1):c.*186G>A rs766338162 0.00021
NM_213599.3(ANO5):c.*1119C>T rs886048131 0.00021
NM_213599.3(ANO5):c.*3373C>A rs868787906 0.00021
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 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_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_002488.4(NDUFA2):c.-63G>A rs748460855 0.00020
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=) rs376915313 0.00020
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586 0.00020
NM_004551.3(NDUFS3):c.*39C>T rs145121567 0.00020
NM_007103.4(NDUFV1):c.700+12C>T rs200417926 0.00020
NM_013382.7(POMT2):c.*1252C>A rs569143920 0.00020
NM_025152.3(NUBPL):c.*905A>C rs750277296 0.00020
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00020
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) rs200576852 0.00020
NM_213674.1(TPM2):c.-238C>T rs886063908 0.00020
NC_000002.12:g.178719839G>A rs771244164 0.00019
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
NM_000540.3(RYR1):c.11034+15G>A rs552725260 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_001025389.2(AMPD3):c.1016C>T (p.Thr339Met) rs201115705 0.00019
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 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_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689 0.00019
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=) rs145578059 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) rs141774400 0.00019
NM_003863.3(DPM2):c.-523C>A rs1010662067 0.00019
NM_004281.4(BAG3):c.*399G>T rs774188346 0.00019
NM_004544.4(NDUFA10):c.749+11C>T rs200760509 0.00019
NM_005006.7(NDUFS1):c.*130A>C rs200736574 0.00019
NM_005476.7(GNE):c.*1575C>T rs761447556 0.00019
NM_005476.7(GNE):c.*208T>C rs771508931 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483 0.00019
NM_012210.4(TRIM32):c.*1350A>C rs1055184514 0.00019
NM_013382.7(POMT2):c.*2053C>A rs759715686 0.00019
NM_021074.4(NDUFV2):c.-83C>T rs540830035 0.00019
NM_133642.5(LARGE1):c.-343C>A rs886057467 0.00019
NM_139343.3(BIN1):c.-105G>C rs575072529 0.00019
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00019
NM_213599.3(ANO5):c.*2568T>A rs150297037 0.00019
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00018
NM_000540.3(RYR1):c.4294-4C>T rs368108496 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 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.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001256545.2(MEGF10):c.*1052C>A rs192309131 0.00018
NM_001256545.2(MEGF10):c.-19+8996T>G rs752797617 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.31422G>A (p.Val10474=) rs72650020 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=) rs374612925 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001377299.1(NDUFS2):c.1354+10C>A rs201275792 0.00018
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=) rs373635709 0.00018
NM_004320.6(ATP2A1):c.*174A>G rs140984847 0.00018
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) rs148726142 0.00018
NM_007078.3(LDB3):c.897-6700G>A rs560431536 0.00018
NM_133642.5(LARGE1):c.*455C>T rs886057460 0.00018
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_182914.3(SYNE2):c.*807G>A rs755864712 0.00018
NM_000334.4(SCN4A):c.*304G>A rs545908155 0.00017
NM_000334.4(SCN4A):c.*86G>T rs566876110 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_001077365.2(POMT1):c.*614G>A rs373680261 0.00017
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys) rs200555425 0.00017
NM_001256545.2(MEGF10):c.*3131A>C rs193298014 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) rs727504200 0.00017
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=) rs7192781 0.00017
NM_005476.7(GNE):c.*1007G>A rs1192808563 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_025215.6(PUS1):c.*120G>A rs569395844 0.00017
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_199069.2(NDUFAF3):c.*169G>C rs886058669 0.00017
NM_000070.3(CAPN3):c.*534T>C rs772498665 0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=) rs36042816 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_001025389.2(AMPD3):c.*431A>G rs751822472 0.00016
NM_001025389.2(AMPD3):c.*845A>G rs529360394 0.00016
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001079802.2(FKTN):c.*5356C>T rs553575648 0.00016
NM_001079802.2(FKTN):c.*71C>T rs747766931 0.00016
NM_001130987.2(DYSF):c.*142G>A rs774156078 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 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_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 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.5420C>T (p.Ala1807Val) rs373790988 0.00016
NM_001164508.2(NEB):c.7227+13T>G rs373818296 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_001173464.2(KIF21A):c.-147C>A rs886049348 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00016
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys) rs191549948 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met) rs142432514 0.00016
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr) rs372922115 0.00016
NM_003863.3(DPM2):c.-141G>A rs886063485 0.00016
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_005476.7(GNE):c.*2847T>C rs886063915 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411 0.00016
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743 0.00016
NM_025152.3(NUBPL):c.-7C>T rs201073307 0.00016
NM_025215.6(PUS1):c.*122C>T rs747836180 0.00016
NM_133642.5(LARGE1):c.-247T>G rs886057463 0.00016
NM_138638.5(CFL2):c.4-198A>G rs143465827 0.00016
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070 0.00016
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.606-15G>C rs201897506 0.00015
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772 0.00015
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581 0.00015
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_003863.3(DPM2):c.*632T>C rs371958283 0.00015
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=) rs145043756 0.00015
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) rs146540015 0.00015
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_152263.4(TPM3):c.*5658G>A rs547577437 0.00015
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_213599.3(ANO5):c.*2274A>G rs372225865 0.00015
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 0.00014
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=) rs771306571 0.00014
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001079802.2(FKTN):c.*1017A>G rs886063324 0.00014
NM_001079802.2(FKTN):c.*1681G>A rs886063327 0.00014
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
NM_001151.4(SLC25A4):c.*2697T>C rs768164742 0.00014
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102 0.00014
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=) rs372808358 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001173464.2(KIF21A):c.-146G>A rs886049347 0.00014
NM_001256545.2(MEGF10):c.*48G>A rs775219648 0.00014
NM_001256545.2(MEGF10):c.2150A>G (p.Asn717Ser) rs116135607 0.00014
NM_001256545.2(MEGF10):c.2980+14A>G rs370563737 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 0.00014
NM_001267550.2(TTN):c.21962-6C>T rs374870814 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=) rs372382546 0.00014
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00014
NM_001267550.2(TTN):c.49648+13T>A rs368996176 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402 0.00014
NM_001267550.2(TTN):c.72720T>A (p.Val24240=) rs550285671 0.00014
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg) rs537071956 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val) rs72648225 0.00014
NM_001267550.2(TTN):c.88611T>G (p.Pro29537=) rs555380931 0.00014
NM_001267550.2(TTN):c.95016T>C (p.Thr31672=) rs367549998 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001849.4(COL6A2):c.*139G>A rs774514501 0.00014
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) rs140243793 0.00014
NM_004544.4(NDUFA10):c.*389C>T rs539829771 0.00014
NM_004553.6(NDUFS6):c.*27A>G rs370587409 0.00014
NM_005006.7(NDUFS1):c.*866A>C rs749790811 0.00014
NM_005476.7(GNE):c.*1038T>C rs975309543 0.00014
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_017534.6(MYH2):c.-34C>T rs573601098 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_058246.4(DNAJB6):c.*636T>G rs756063127 0.00014
NM_138638.5(CFL2):c.*2284C>T rs372609152 0.00014
NM_138638.5(CFL2):c.*473A>G rs916389634 0.00014
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_152263.4(TPM3):c.*482C>T rs886045313 0.00014
NM_213674.1(TPM2):c.-158C>A rs886063907 0.00014
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp) rs373512834 0.00013
NM_000070.3(CAPN3):c.1800+12G>A rs542523863 0.00013
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=) rs368063600 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_001025389.2(AMPD3):c.1739C>T (p.Thr580Met) rs750830023 0.00013
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_001164508.2(NEB):c.1119G>A (p.Arg373=) rs200914626 0.00013
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu) rs373133009 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465 0.00013
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr) rs201181445 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=) rs141768043 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln) rs141142920 0.00013
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys) rs772093035 0.00013
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510 0.00013
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met) rs758758266 0.00013
NM_001849.4(COL6A2):c.542G>A (p.Arg181His) rs371640468 0.00013
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.*51C>A rs372291142 0.00013
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_004544.4(NDUFA10):c.*1057T>G rs541016943 0.00013
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_005476.7(GNE):c.*2877T>C rs886063914 0.00013
NM_007126.5(VCP):c.*347C>T rs886063888 0.00013
NM_007215.4(POLG2):c.562+11C>T rs782336056 0.00013
NM_012210.4(TRIM32):c.*1416A>G rs572710748 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_017547.4(FOXRED1):c.-31A>G rs368307265 0.00013
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_182914.3(SYNE2):c.-128A>T rs886050576 0.00013
NM_000070.3(CAPN3):c.*211G>A rs112661890 0.00012
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000334.4(SCN4A):c.*1887A>G rs749866237 0.00012
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val) rs755651622 0.00012
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737 0.00012
NM_001164508.2(NEB):c.2823G>A (p.Ala941=) rs376849181 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=) rs373278622 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) rs370604793 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537 0.00012
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) rs142478636 0.00012
NM_004544.4(NDUFA10):c.*2111G>A rs752139055 0.00012
NM_004553.6(NDUFS6):c.*99G>C rs994577006 0.00012
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00012
NM_005476.7(GNE):c.*252A>C rs745365886 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123 0.00012
NM_025152.3(NUBPL):c.109-11A>T rs886050448 0.00012
NM_025152.3(NUBPL):c.777A>G (p.Ala259=) rs368513010 0.00012
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_139343.2(BIN1):c.-214T>G rs886054841 0.00012
NM_152263.4(TPM3):c.*1661C>T rs575927755 0.00012
NM_182961.4(SYNE1):c.-347C>A rs570030870 0.00012
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) rs199504381 0.00012
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000334.4(SCN4A):c.*1108C>G rs773016576 0.00011
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=) rs201670423 0.00011
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_001025389.2(AMPD3):c.1729G>A (p.Gly577Ser) rs769751034 0.00011
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867 0.00011
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186 0.00011
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) rs377071831 0.00011
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001164508.2(NEB):c.-114+3A>G rs772077208 0.00011
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 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.20212G>A (p.Asp6738Asn) rs201337732 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_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) rs373380202 0.00011
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238 0.00011
NM_001267550.2(TTN):c.34379-15A>G rs764544769 0.00011
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=) rs747908048 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His) rs775137607 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00011
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=) rs752309744 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001953.5(TYMP):c.*10G>A rs369012029 0.00011
NM_001953.5(TYMP):c.*3C>T rs372620403 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_004544.4(NDUFA10):c.*2649G>A rs886055815 0.00011
NM_004544.4(NDUFA10):c.*3409G>A rs146483651 0.00011
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_005198.5(CHKB):c.944A>G (p.His315Arg) rs199641367 0.00011
NM_005476.7(GNE):c.*2537G>A rs1042849497 0.00011
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00011
NM_007126.5(VCP):c.*382C>T rs749381324 0.00011
NM_007126.5(VCP):c.-215A>G rs886063893 0.00011
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_013382.7(POMT2):c.*1724C>T rs45510397 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_015713.5(RRM2B):c.*2410C>A rs767476703 0.00011
NM_015713.5(RRM2B):c.*2722A>G rs543127762 0.00011
NM_017547.3(FOXRED1):c.-151C>A rs546439717 0.00011
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700 0.00011
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_025152.3(NUBPL):c.*1048G>A rs886050455 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_133642.5(LARGE1):c.*499G>A rs886057458 0.00011
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) rs138938225 0.00011
NM_152263.4(TPM3):c.*32C>T rs141699072 0.00011
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218 0.00011
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000070.3(CAPN3):c.945+15G>A rs567256305 0.00010
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000334.4(SCN4A):c.*1253G>A rs886053240 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_001077365.2(POMT1):c.*105G>A rs886063539 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001079802.2(FKTN):c.*3377A>G rs148172557 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_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.19751T>G (p.Met6584Arg) rs190605644 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.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001256545.2(MEGF10):c.*13G>A rs372938701 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=) rs566454891 0.00010
NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr) rs183499397 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001377299.1(NDUFS2):c.515-3C>A rs149789018 0.00010
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=) rs746339542 0.00010
NM_001927.4(DES):c.*588G>A rs746886224 0.00010
NM_003673.4(TCAP):c.*292G>A rs185210946 0.00010
NM_004168.4(SDHA):c.*189C>T rs185107377 0.00010
NM_005138.3(SCO2):c.162C>T (p.Gly54=) rs139545104 0.00010
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587 0.00010
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) rs143216424 0.00010
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_012210.4(TRIM32):c.*1354C>A rs763188009 0.00010
NM_013382.7(POMT2):c.*693C>G rs752332125 0.00010
NM_013382.7(POMT2):c.-149C>A rs886050828 0.00010
NM_015713.5(RRM2B):c.*2978A>G rs761021253 0.00010
NM_015713.5(RRM2B):c.*3118T>G rs1010967137 0.00010
NM_015713.5(RRM2B):c.*328G>A rs142449540 0.00010
NM_133642.5(LARGE1):c.*770A>T rs886057456 0.00010
NM_133642.5(LARGE1):c.*849C>T rs149508241 0.00010
NM_138638.5(CFL2):c.*718A>G rs886050474 0.00010
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_152263.4(TPM3):c.*3481C>T rs753333464 0.00010
NM_213599.3(ANO5):c.2235+4A>C rs372056234 0.00010
NM_000070.3(CAPN3):c.-300C>G rs886051147 0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00009
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883 0.00009
NM_000540.3(RYR1):c.6549-9C>T rs370994573 0.00009
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001025389.2(AMPD3):c.459G>A (p.Lys153=) rs752821070 0.00009
NM_001025389.2(AMPD3):c.460A>G (p.Ser154Gly) rs756660564 0.00009
NM_001040436.3(YARS2):c.*627A>T rs886049303 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_001077365.2(POMT1):c.*448C>T rs373799176 0.00009
NM_001077365.2(POMT1):c.*591C>T rs1012682271 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001151.4(SLC25A4):c.*3025G>A rs773137655 0.00009
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 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.12279G>A (p.Pro4093=) rs367638234 0.00009
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=) rs200122580 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579 0.00009
NM_001164508.2(NEB):c.9832-7A>T rs778183317 0.00009
NM_001173464.2(KIF21A):c.44+5G>A rs986920207 0.00009
NM_001256545.2(MEGF10):c.*296C>T rs568755125 0.00009
NM_001256545.2(MEGF10):c.*3769C>T rs886059880 0.00009
NM_001256545.2(MEGF10):c.1726C>T (p.Arg576Cys) rs143087353 0.00009
NM_001256545.2(MEGF10):c.2157T>C (p.His719=) rs374544972 0.00009
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=) rs151316424 0.00009
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=) rs370850456 0.00009
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=) rs371253627 0.00009
NM_001267550.2(TTN):c.*25C>T rs370597649 0.00009
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=) rs375120372 0.00009
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val) rs370890922 0.00009
NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln) rs368151146 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His) rs745578038 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.18307+12A>G rs376899412 0.00009
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) rs371882162 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.27049+10C>A rs780979988 0.00009
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00009
NM_001267550.2(TTN):c.31208-13G>A rs377135196 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg) rs372841136 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=) rs369255906 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) rs200992636 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn) rs376634713 0.00009
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser) rs200148139 0.00009
NM_001267550.2(TTN):c.98989+12A>C rs72648275 0.00009
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=) rs41428447 0.00009
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013 0.00009
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_002488.4(NDUFA2):c.-114T>A rs760264090 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_004544.4(NDUFA10):c.*3067C>T rs564992184 0.00009
NM_004544.4(NDUFA10):c.*765C>T rs144208727 0.00009
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) rs138887128 0.00009
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) rs773111037 0.00009
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) rs375383752 0.00009
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00009
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_013382.7(POMT2):c.*1749C>A rs543216671 0.00009
NM_013382.7(POMT2):c.*727C>T rs980293755 0.00009
NM_013382.7(POMT2):c.*766C>T rs552352814 0.00009
NM_015713.5(RRM2B):c.*552G>A rs375924434 0.00009
NM_017641.3(KIF21A):c.-339C>A rs886049352 0.00009
NM_017739.4(POMGNT1):c.-141A>G rs886046387 0.00009
NM_018834.6(MATR3):c.*1239A>G rs746298588 0.00009
NM_018834.6(MATR3):c.*857C>T rs745417770 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_025152.3(NUBPL):c.*1609G>A rs142179743 0.00009
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_139343.3(BIN1):c.*470A>C rs984385783 0.00009
NM_152263.4(TPM3):c.*2015T>C rs758111582 0.00009
NM_152263.4(TPM3):c.*5795C>T rs981377315 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_182914.3(SYNE2):c.16700C>T (p.Thr5567Met) rs527368157 0.00009
NM_182961.4(SYNE1):c.-305G>T rs949603195 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_199069.1(NDUFAF3):c.-249C>T rs886058665 0.00009
NM_199189.3(MATR3):c.-422C>T rs751398373 0.00009
NM_213599.3(ANO5):c.369G>A (p.Ser123=) rs199888040 0.00009
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258 0.00008
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438 0.00008
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=) rs376851030 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.8310+10A>G rs372730488 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_001025389.2(AMPD3):c.991C>T (p.Arg331Cys) rs758038726 0.00008
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001079802.2(FKTN):c.*2984C>T rs886063332 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_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.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln) rs755400237 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.1365G>A (p.Thr455=) rs145211131 0.00008
NM_001267550.2(TTN):c.1743G>A (p.Pro581=) rs138560523 0.00008
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) rs759713604 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.3522A>C (p.Glu1174Asp) rs545280886 0.00008
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158 0.00008
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) rs727504192 0.00008
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.57112-4C>T rs117072049 0.00008
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile) rs764203267 0.00008
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile) rs757911359 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00008
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His) rs561977468 0.00008
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=) rs72648203 0.00008
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys) rs192360370 0.00008
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr) rs773226749 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_001849.4(COL6A2):c.*202C>T rs886057171 0.00008
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_003863.4(DPM2):c.-5G>A rs371551833 0.00008
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) rs746453879 0.00008
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259 0.00008
NM_004281.4(BAG3):c.-128G>T rs543269835 0.00008
NM_004544.4(NDUFA10):c.*1214C>T rs546735567 0.00008
NM_004544.4(NDUFA10):c.*2900G>A rs752124492 0.00008
NM_004551.2(NDUFS3):c.-30C>T rs375483884 0.00008
NM_005198.5(CHKB):c.708C>T (p.Val236=) rs141934594 0.00008
NM_005476.7(GNE):c.*2448A>G rs757287887 0.00008
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_012210.4(TRIM32):c.*1246T>C rs573622329 0.00008
NM_012210.4(TRIM32):c.27G>C (p.Leu9=) rs201891227 0.00008
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=) rs376738763 0.00008
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) rs77785510 0.00008
NM_025152.3(NUBPL):c.*1047C>T rs913575962 0.00008
NM_025152.3(NUBPL):c.*864C>T rs996734164 0.00008
NM_058246.4(DNAJB6):c.*606A>G rs570569711 0.00008
NM_152263.4(TPM3):c.*4924C>T rs1036320708 0.00008
NM_152263.4(TPM3):c.*5500C>G rs973966350 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_182914.3(SYNE2):c.16905+4A>C rs369093036 0.00008
NM_213599.3(ANO5):c.*1941C>T rs183334403 0.00008
NC_000002.12:g.178692011C>T rs145387989 0.00007
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000540.3(RYR1):c.10260-12C>T rs779541890 0.00007
NM_000540.3(RYR1):c.11260-13C>T rs540088883 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.7028-8G>A rs147390699 0.00007
NM_001101362.3(KBTBD13):c.*174G>A rs983773942 0.00007
NM_001130987.2(DYSF):c.*179G>A rs886056284 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.23127+4G>A rs764457781 0.00007
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu) rs200468391 0.00007
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=) rs368371414 0.00007
NM_001256545.2(MEGF10):c.*104G>A rs541948892 0.00007
NM_001256545.2(MEGF10):c.1112A>C (p.His371Pro) rs775006586 0.00007
NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys) rs200236385 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) rs397517524 0.00007
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.54194G>A (p.Arg18065His) rs375895183 0.00007
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) rs189818369 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) rs202098308 0.00007
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) rs182161195 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) rs766753906 0.00007
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile) rs756561910 0.00007
NM_001927.4(DES):c.*114G>T rs755277387 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001953.5(TYMP):c.-84T>C rs560027665 0.00007
NM_001953.5(TYMP):c.517-15G>A rs372690172 0.00007
NM_002496.4(NDUFS8):c.502-10C>T rs369961682 0.00007
NM_003289.4(TPM2):c.*99A>G rs879505630 0.00007
NM_003673.4(TCAP):c.*128G>A rs1019098438 0.00007
NM_004320.6(ATP2A1):c.-15C>T rs761455664 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln) rs774708450 0.00007
NM_004544.4(NDUFA10):c.*1486C>T rs746931112 0.00007
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) rs3740654 0.00007
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) rs147624681 0.00007
NM_005198.5(CHKB):c.219C>T (p.Pro73=) rs751273046 0.00007
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) rs781925329 0.00007
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly) rs139086727 0.00007
NM_017547.4(FOXRED1):c.418-1G>T rs771941278 0.00007
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) rs757488156 0.00007
NM_025152.3(NUBPL):c.*1554A>G rs967796383 0.00007
NM_025152.3(NUBPL):c.*561G>A rs189555353 0.00007
NM_025152.3(NUBPL):c.*72T>C rs975175643 0.00007
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp) rs143828069 0.00007
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) rs200591614 0.00007
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) rs200035534 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_199069.2(NDUFAF3):c.78-15C>G rs587781096 0.00007
NM_213599.3(ANO5):c.*2752G>A rs752574891 0.00007
NM_000070.3(CAPN3):c.*136C>T rs980663241 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn) rs753780627 0.00006
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000183.2(HADHB):c.-176G>T rs574318006 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000257.4(MYH7):c.1179C>T (p.Ala393=) rs143293426 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 0.00006
NM_000334.4(SCN4A):c.-4G>A rs565414568 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000540.3(RYR1):c.10938-11C>T rs760754746 0.00006
NM_000540.3(RYR1):c.10938-12T>A rs767711818 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu) rs544742812 0.00006
NM_000540.3(RYR1):c.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.4620+13C>T rs201971363 0.00006
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=) rs772422894 0.00006
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln) rs748907487 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=) rs199813873 0.00006
NM_000540.3(RYR1):c.9555-10C>T rs774666035 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001025389.2(AMPD3):c.*1536T>C rs866636048 0.00006
NM_001025389.2(AMPD3):c.1600G>A (p.Asp534Asn) rs750200570 0.00006
NM_001025389.2(AMPD3):c.2267C>G (p.Ala756Gly) rs144691269 0.00006
NM_001025389.2(AMPD3):c.2289C>T (p.Thr763=) rs138270366 0.00006
NM_001040436.3(YARS2):c.*478G>A rs925773588 0.00006
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) rs145906298 0.00006
NM_001077365.2(POMT1):c.*37G>A rs201474628 0.00006
NM_001079802.2(FKTN):c.*1845G>T rs886063328 0.00006
NM_001079802.2(FKTN):c.*2254A>G rs764218622 0.00006
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) rs755775428 0.00006
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001151.4(SLC25A4):c.*671A>G rs181474745 0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile) rs368842783 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.18166A>G (p.Arg6056Gly) rs779413062 0.00006
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr) rs751483486 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys) rs763554121 0.00006
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile) rs140982447 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 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.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=) rs577894144 0.00006
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=) rs183764569 0.00006
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=) rs143876096 0.00006
NM_001256545.2(MEGF10):c.*187G>A rs1471426891 0.00006
NM_001256545.2(MEGF10):c.*2174T>C rs770022175 0.00006
NM_001256545.2(MEGF10):c.*602G>A rs753515395 0.00006
NM_001256545.2(MEGF10):c.1435G>A (p.Gly479Arg) rs372163689 0.00006
NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=) rs558369303 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=) rs148349018 0.00006
NM_001267550.2(TTN):c.-118G>A rs886055310 0.00006
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg) rs545443009 0.00006
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu) rs72629788 0.00006
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) rs200123047 0.00006
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe) rs763752622 0.00006
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=) rs761965591 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu) rs764248656 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser) rs776799144 0.00006
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=) rs727503643 0.00006
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe) rs746558975 0.00006
NM_001267550.2(TTN):c.28462+11T>C rs563062273 0.00006
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=) rs368780181 0.00006
NM_001267550.2(TTN):c.3132C>T (p.Ala1044=) rs777315600 0.00006
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) rs370208651 0.00006
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862 0.00006
NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val) rs763205133 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00006
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) rs368056479 0.00006
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=) rs375519815 0.00006
NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu) rs370520319 0.00006
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln) rs770389312 0.00006
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624 0.00006
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=) rs370998052 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe) rs555577161 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 0.00006
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=) rs776141268 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.62679C>T (p.Gly20893=) rs188059075 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) rs545377175 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe) rs3813244 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00006
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His) rs370137092 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.851C>T (p.Ser284Leu) rs775566677 0.00006
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile) rs377264123 0.00006
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00006
NM_001267550.2(TTN):c.9195G>A (p.Lys3065=) rs780650145 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943 0.00006
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) rs184078016 0.00006
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile) rs370918800 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser) rs139992576 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) rs754241926 0.00006
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=) rs146323303 0.00006
NM_001849.4(COL6A2):c.2436G>A (p.Val812=) rs372745282 0.00006
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) rs149697707 0.00006
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=) rs139116075 0.00006
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met) rs145959270 0.00006
NM_001927.4(DES):c.*489G>A rs886055655 0.00006
NM_001927.4(DES):c.*695C>T rs1452548510 0.00006
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) rs146922557 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688 0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser) rs374891900 0.00006
NM_003283.6(TNNT1):c.791+12C>T rs201143291 0.00006
NM_004168.4(SDHA):c.*102G>A rs1009017730 0.00006
NM_004281.4(BAG3):c.-285C>A rs866276705 0.00006
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met) rs142091964 0.00006
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=) rs754620899 0.00006
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs) rs398124555 0.00006
NM_004544.4(NDUFA10):c.*3205G>A rs886055811 0.00006
NM_004544.4(NDUFA10):c.*361A>G rs778261754 0.00006
NM_004550.5(NDUFS2):c.-156G>A rs886045457 0.00006
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655 0.00006
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187 0.00006
NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274 0.00006
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) rs769276632 0.00006
NM_005138.3(SCO2):c.-83A>G rs886057632 0.00006
NM_005198.5(CHKB):c.1037C>T (p.Ala346Val) rs772616505 0.00006
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe) rs371355721 0.00006
NM_005476.7(GNE):c.*573G>A rs1032415165 0.00006
NM_006790.3(MYOT):c.-165C>T rs866748883 0.00006
NM_007078.3(LDB3):c.897-6745C>T rs746256049 0.00006
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500 0.00006
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800 0.00006
NM_007126.5(VCP):c.*172C>G rs886063890 0.00006
NM_007126.5(VCP):c.*217G>T rs981870646 0.00006
NM_007126.5(VCP):c.*64C>T rs553370942 0.00006
NM_012210.4(TRIM32):c.*1424C>G rs886473067 0.00006
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_013382.7(POMT2):c.*1548G>A rs902166672 0.00006
NM_013382.7(POMT2):c.*1818T>C rs1010549526 0.00006
NM_013382.7(POMT2):c.*637C>G rs1327896686 0.00006
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_018834.6(MATR3):c.*2241A>G rs886060006 0.00006
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) rs199863621 0.00006
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_133642.5(LARGE1):c.*186C>T rs780030367 0.00006
NM_133642.5(LARGE1):c.-242C>T rs886057462 0.00006
NM_133642.5(LARGE1):c.-277T>G rs886057464 0.00006
NM_133642.5(LARGE1):c.-287A>G rs886057465 0.00006
NM_133642.5(LARGE1):c.-83+63184A>C rs759992064 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_138638.5(CFL2):c.*1885C>T rs775859581 0.00006
NM_138638.5(CFL2):c.*293G>A rs774843860 0.00006
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.-163T>C rs560690864 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_152263.4(TPM3):c.*1967C>T rs910205963 0.00006
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_175614.4(NDUFA11):c.-282T>C rs779432735 0.00006
NM_175614.5(NDUFA11):c.*63G>A rs749166288 0.00006
NM_182914.3(SYNE2):c.17524G>A (p.Glu5842Lys) rs769564739 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093 0.00006
NM_213599.3(ANO5):c.*305A>T rs867650799 0.00006
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.945+14C>T rs763112832 0.00005
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000257.4(MYH7):c.4519+6C>T rs370779504 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000334.4(SCN4A):c.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) rs376830015 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.1956G>A (p.Ala652=) rs202105428 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=) rs371006370 0.00005
NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser) rs377080876 0.00005
NM_000540.3(RYR1):c.9555-4C>T rs1417337927 0.00005
NM_001025389.2(AMPD3):c.*771C>T rs746976193 0.00005
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742 0.00005
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 0.00005
NM_001151.4(SLC25A4):c.-46G>A rs763271934 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.19315-4A>G rs778306769 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 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.7246C>G (p.Leu2416Val) rs747337656 0.00005
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=) rs751813170 0.00005
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His) rs565304206 0.00005
NM_001256545.2(MEGF10):c.2364G>C (p.Lys788Asn) rs554750220 0.00005
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=) rs144450528 0.00005
NM_001256545.2(MEGF10):c.522G>A (p.Arg174=) rs201076330 0.00005
NM_001256545.2(MEGF10):c.916C>T (p.Arg306Trp) rs371078929 0.00005
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val) rs769369764 0.00005
NM_001267550.2(TTN):c.15253G>A (p.Asp5085Asn) rs374299783 0.00005
NM_001267550.2(TTN):c.15453T>C (p.Asn5151=) rs201343844 0.00005
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=) rs368427156 0.00005
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu) rs201586695 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.24157G>A (p.Gly8053Ser) rs374167223 0.00005
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu) rs374075627 0.00005
NM_001267550.2(TTN):c.34538-12A>G rs376626305 0.00005
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.44229G>A (p.Gly14743=) rs376445406 0.00005
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=) rs760251812 0.00005
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His) rs778885931 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.71058G>A (p.Ala23686=) rs375183437 0.00005
NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr) rs183015944 0.00005
NM_001267550.2(TTN):c.81217C>T (p.Pro27073Ser) rs542799302 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn) rs554231442 0.00005
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975 0.00005
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala) rs779339626 0.00005
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr) rs140731056 0.00005
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=) rs751688085 0.00005
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) rs267606749 0.00005
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn) rs372431744 0.00005
NM_002496.4(NDUFS8):c.199+5G>A rs373522607 0.00005
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) rs139334907 0.00005
NM_003283.6(TNNT1):c.*129C>G rs1014566207 0.00005
NM_003863.4(DPM2):c.197-5C>T rs886063482 0.00005
NM_004320.6(ATP2A1):c.*158_*159del rs540528794 0.00005
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) rs118106981 0.00005
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) rs928084265 0.00005
NM_005198.4(CHKB):c.-94G>A rs886057639 0.00005
NM_005476.7(GNE):c.*872C>T rs1008750814 0.00005
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) rs202139846 0.00005
NM_007078.3(LDB3):c.897-6665C>T rs549156118 0.00005
NM_007126.4(VCP):c.-370G>A rs886063895 0.00005
NM_007126.5(VCP):c.*63G>A rs969638105 0.00005
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_013382.7(POMT2):c.*2200G>A rs1037547422 0.00005
NM_013382.7(POMT2):c.*289G>A rs886050823 0.00005
NM_013382.7(POMT2):c.*601G>A rs150190025 0.00005
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922 0.00005
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516 0.00005
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro) rs375454069 0.00005
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) rs777315728 0.00005
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_025152.3(NUBPL):c.*1840A>G rs886050471 0.00005
NM_025152.3(NUBPL):c.*355T>C rs886050452 0.00005
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) rs751219189 0.00005
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148 0.00005
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998 0.00005
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) rs201753270 0.00005
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_152263.4(TPM3):c.*2298T>C rs201157203 0.00005
NM_152263.4(TPM3):c.*974C>T rs534731616 0.00005
NM_152263.4(TPM3):c.327T>G (p.Thr109=) rs764255899 0.00005
NM_173201.4(ATP2A1):c.*287G>A rs886051885 0.00005
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_182914.3(SYNE2):c.3971C>T (p.Ala1324Val) rs778039158 0.00005
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly) rs377526133 0.00005
NM_213599.3(ANO5):c.*2293G>C rs886048138 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_000070.3(CAPN3):c.*443A>C rs886051152 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly) rs754441267 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000183.3(HADHB):c.64+15A>T rs1018820638 0.00004
NM_000257.4(MYH7):c.1368C>T (p.Phe456=) rs766216871 0.00004
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00004
NM_000334.4(SCN4A):c.-74G>A rs546675124 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val) rs374061380 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met) rs148540135 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys) rs766827383 0.00004
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=) rs143891703 0.00004
NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr) rs761386401 0.00004
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr) rs376567445 0.00004
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr) rs1030955858 0.00004
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793 0.00004
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=) rs781110591 0.00004
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr) rs756311466 0.00004
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=) rs139409128 0.00004
NM_001005361.3(DNM2):c.-116C>T rs966672075 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001025389.2(AMPD3):c.1824C>T (p.His608=) rs201980416 0.00004
NM_001025389.2(AMPD3):c.362C>T (p.Thr121Met) rs780348844 0.00004
NM_001025389.2(AMPD3):c.500G>T (p.Arg167Leu) rs764108261 0.00004
NM_001025389.2(AMPD3):c.600T>G (p.Pro200=) rs200373616 0.00004
NM_001025389.2(AMPD3):c.7C>T (p.Arg3Trp) rs148904594 0.00004
NM_001025389.2(AMPD3):c.939+13C>T rs776606981 0.00004
NM_001040436.3(YARS2):c.*595G>A rs961010458 0.00004
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998 0.00004
NM_001042631.3(SDHAF1):c.*329G>C rs886054355 0.00004
NM_001042631.3(SDHAF1):c.117T>C (p.His39=) rs754546603 0.00004
NM_001077365.2(POMT1):c.*68C>T rs773474667 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.-136A>G rs886063318 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_001101362.3(KBTBD13):c.*1276G>T rs886051344 0.00004
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) rs376673920 0.00004
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 0.00004
NM_001130987.2(DYSF):c.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494 0.00004
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628 0.00004
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*3336G>A rs925362228 0.00004
NM_001151.4(SLC25A4):c.*448G>A rs767635362 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=) rs554366790 0.00004
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met) rs759624618 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.1953G>A (p.Glu651=) rs367997645 0.00004
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=) rs141526973 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.2250G>A (p.Thr750=) rs753965951 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.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979 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.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00004
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=) rs559846137 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001256545.2(MEGF10):c.*1496T>C rs886059868 0.00004
NM_001256545.2(MEGF10):c.*1584G>A rs187137999 0.00004
NM_001256545.2(MEGF10):c.*2001A>G rs959051009 0.00004
NM_001256545.2(MEGF10):c.*2222A>G rs531911246 0.00004
NM_001256545.2(MEGF10):c.*3153C>T rs996897163 0.00004
NM_001256545.2(MEGF10):c.*3537T>C rs756636870 0.00004
NM_001256545.2(MEGF10):c.*3562C>T rs886059877 0.00004
NM_001256545.2(MEGF10):c.*3715A>G rs755314732 0.00004
NM_001256545.2(MEGF10):c.*447A>G rs183710966 0.00004
NM_001256545.2(MEGF10):c.-219G>T rs746325634 0.00004
NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=) rs528654275 0.00004
NM_001256545.2(MEGF10):c.2942C>T (p.Pro981Leu) rs1064793648 0.00004
NM_001267550.2(TTN):c.*197C>G rs886055216 0.00004
NM_001267550.2(TTN):c.*898A>C rs998874416 0.00004
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343 0.00004
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956 0.00004
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) rs774524898 0.00004
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.1398+9G>A rs368350210 0.00004
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln) rs553541436 0.00004
NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln) rs367630668 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) rs780784090 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.185G>A (p.Arg62His) rs758169489 0.00004
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) rs369275615 0.00004
NM_001267550.2(TTN):c.19377G>A (p.Val6459=) rs371652207 0.00004
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=) rs775289296 0.00004
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys) rs778532757 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=) rs886055291 0.00004
NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) rs200489972 0.00004
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile) rs769996978 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr) rs886055288 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694 0.00004
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg) rs767155246 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00004
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) rs774557269 0.00004
NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala) rs768249663 0.00004
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) rs794729427 0.00004
NM_001267550.2(TTN):c.44691G>A (p.Lys14897=) rs755769210 0.00004
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140 0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) rs147703145 0.00004
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser) rs372404266 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met) rs554368924 0.00004
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp) rs748175453 0.00004
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp) rs773746281 0.00004
NM_001267550.2(TTN):c.56761C>T (p.Leu18921=) rs769824680 0.00004
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) rs576158850 0.00004
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060 0.00004
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=) rs374354363 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His) rs375149365 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu) rs763002536 0.00004
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=) rs368985748 0.00004
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.78756T>C (p.Ile26252=) rs372319281 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.79155G>A (p.Val26385=) rs377618488 0.00004
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211 0.00004
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) rs779878975 0.00004
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00004
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) rs752974639 0.00004
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His) rs375800916 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479 0.00004
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr) rs201592005 0.00004
NM_001267550.2(TTN):c.89309T>C (p.Val29770Ala) rs755018367 0.00004
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro) rs762590394 0.00004
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg) rs727503681 0.00004
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile) rs758006837 0.00004
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys) rs569593251 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00004
NM_001377299.1(NDUFS2):c.95+14C>T rs751472475 0.00004
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His) rs760872485 0.00004
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met) rs200488881 0.00004
NM_001927.4(DES):c.*112C>G rs540351476 0.00004
NM_001953.5(TYMP):c.516+10G>A rs552829713 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416 0.00004
NM_002495.4(NDUFS4):c.-22C>A rs144843461 0.00004
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) rs201341132 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103 0.00004
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=) rs199557273 0.00004
NM_004320.6(ATP2A1):c.220-11C>T rs369161791 0.00004
NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp) rs368388257 0.00004
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=) rs200531611 0.00004
NM_004544.4(NDUFA10):c.*1594G>A rs773071160 0.00004
NM_004544.4(NDUFA10):c.*2455C>G rs756778773 0.00004
NM_004544.4(NDUFA10):c.*3557G>A rs149933652 0.00004
NM_004544.4(NDUFA10):c.*428C>T rs557106858 0.00004
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) rs759587515 0.00004
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296 0.00004
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915 0.00004
NM_005138.3(SCO2):c.723C>T (p.Tyr241=) rs375345044 0.00004
NM_005476.7(GNE):c.*554G>A rs755277976 0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 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_006790.3(MYOT):c.*418T>C rs778508971 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_007078.3(LDB3):c.897-6692C>T rs1286351667 0.00004
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln) rs758882829 0.00004
NM_013382.7(POMT2):c.*119T>C rs886050824 0.00004
NM_013382.7(POMT2):c.*11A>G rs373236103 0.00004
NM_013382.7(POMT2):c.*1265T>G rs886050816 0.00004
NM_013382.7(POMT2):c.*2359A>T rs564345093 0.00004
NM_013382.7(POMT2):c.*809G>A rs1035134599 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_014165.4(NDUFAF4):c.*1213C>T rs1456765249 0.00004
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) rs372832376 0.00004
NM_017547.4(FOXRED1):c.*71A>G rs763886127 0.00004
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val) rs139029287 0.00004
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112 0.00004
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg) rs368843227 0.00004
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046 0.00004
NM_018834.6(MATR3):c.*2098A>G rs774066454 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) rs565395435 0.00004
NM_024407.5(NDUFS7):c.455+13C>T rs376025020 0.00004
NM_025152.3(NUBPL):c.-25A>G rs749942385 0.00004
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) rs79498789 0.00004
NM_025215.6(PUS1):c.-287G>C rs886049088 0.00004
NM_025215.6(PUS1):c.426C>T (p.Cys142=) rs554459931 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_058246.4(DNAJB6):c.*105C>T rs534203597 0.00004
NM_058246.4(DNAJB6):c.*215C>T rs953620507 0.00004
NM_058246.4(DNAJB6):c.230G>A (p.Gly77Glu) rs372973038 0.00004
NM_058246.4(DNAJB6):c.347-14A>T rs368036062 0.00004
NM_133642.5(LARGE1):c.*566G>A rs878945156 0.00004
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) rs561439887 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_138638.5(CFL2):c.*1620T>C rs943154114 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_152263.4(TPM3):c.*2220T>C rs886045306 0.00004
NM_152263.4(TPM3):c.*2544C>T rs968828245 0.00004
NM_152263.4(TPM3):c.*2652C>T rs555966358 0.00004
NM_152263.4(TPM3):c.*4203G>A rs886045299 0.00004
NM_152263.4(TPM3):c.*4389G>T rs886045297 0.00004
NM_152263.4(TPM3):c.*489T>G rs886045312 0.00004
NM_152263.4(TPM3):c.*4930G>A rs995544936 0.00004
NM_152263.4(TPM3):c.495+7G>C rs749792884 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) rs550008432 0.00004
NM_175614.4(NDUFA11):c.-143C>G rs550697802 0.00004
NM_175614.4(NDUFA11):c.-300G>A rs563822139 0.00004
NM_175614.5(NDUFA11):c.-31G>A rs886054648 0.00004
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser) rs751766809 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863 0.00004
NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=) rs764264884 0.00004
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790 0.00004
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val) rs199854951 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser) rs868377407 0.00004
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730 0.00004
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile) rs563568189 0.00004
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=) rs200800604 0.00004
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=) rs369691475 0.00004
NM_182961.4(SYNE1):c.888+4G>C rs749258298 0.00004
NM_199069.2(NDUFAF3):c.*243G>A rs941353519 0.00004
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe) rs373060774 0.00004
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln) rs143078257 0.00004
NC_000002.12:g.178605717T>C rs772324772 0.00003
NM_000070.3(CAPN3):c.*395G>C rs774343819 0.00003
NM_000070.3(CAPN3):c.1768G>A (p.Val590Met) rs370809015 0.00003
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) rs752155690 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=) rs766561921 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000334.4(SCN4A):c.*394A>C rs886053244 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=) rs774096421 0.00003
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.11193+15C>G rs370928637 0.00003
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=) rs1292456827 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.2937G>A (p.Ala979=) rs775442275 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.537+13G>A rs754569485 0.00003
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=) rs201310026 0.00003
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp) rs147441124 0.00003
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=) rs769443054 0.00003
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys) rs147197176 0.00003
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=) rs768702294 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys) rs772769577 0.00003
NM_000540.3(RYR1):c.8686G>A (p.Ala2896Thr) rs886054397 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001025389.2(AMPD3):c.1267-13C>A rs376493129 0.00003
NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln) rs886047586 0.00003
NM_001042631.3(SDHAF1):c.*327C>A rs1252756289 0.00003
NM_001077365.2(POMT1):c.-30G>A rs780382988 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001079802.2(FKTN):c.*2505A>G rs367988702 0.00003
NM_001079802.2(FKTN):c.*760A>C rs532531159 0.00003
NM_001079802.2(FKTN):c.*79C>T rs530616539 0.00003
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA rs749384329 0.00003
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915 0.00003
NM_001130987.2(DYSF):c.5643-12A>G rs375507062 0.00003
NM_001151.4(SLC25A4):c.*1217A>C rs1048884006 0.00003
NM_001151.4(SLC25A4):c.*2618C>G rs1271807284 0.00003
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773 0.00003
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=) rs200043736 0.00003
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449 0.00003
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=) rs749556191 0.00003
NM_001164508.2(NEB):c.1365+14C>A rs750849844 0.00003
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg) rs760552939 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.20367+15G>C rs886054931 0.00003
NM_001164508.2(NEB):c.20578-8A>G rs368526624 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.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly) rs772803200 0.00003
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=) rs543961404 0.00003
NM_001164508.2(NEB):c.475C>T (p.His159Tyr) rs776746330 0.00003
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val) rs201940342 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.6135T>C (p.Asp2045=) rs886042654 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001173464.2(KIF21A):c.*65G>A rs888970061 0.00003
NM_001256545.2(MEGF10):c.*1699G>A rs886059869 0.00003
NM_001256545.2(MEGF10):c.*22C>T rs770979380 0.00003
NM_001256545.2(MEGF10):c.*77C>T rs1237291224 0.00003
NM_001256545.2(MEGF10):c.*780A>C rs752257506 0.00003
NM_001256545.2(MEGF10):c.1906G>A (p.Gly636Arg) rs201512679 0.00003
NM_001256545.2(MEGF10):c.2704G>A (p.Val902Ile) rs138034219 0.00003
NM_001256545.2(MEGF10):c.512C>T (p.Ala171Val) rs201824269 0.00003
NM_001256545.2(MEGF10):c.781-15T>C rs767842462 0.00003
NM_001267550.2(TTN):c.*636T>G rs886055214 0.00003
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe) rs773984912 0.00003
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685 0.00003
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro) rs368765896 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys) rs778207634 0.00003
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=) rs148865574 0.00003
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu) rs750660824 0.00003
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) rs761666344 0.00003
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr) rs748155563 0.00003
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.18646G>A (p.Val6216Met) rs369242073 0.00003
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly) rs367868361 0.00003
NM_001267550.2(TTN):c.20397G>A (p.Arg6799=) rs376573256 0.00003
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) rs761383124 0.00003
NM_001267550.2(TTN):c.22240+7A>C rs368101794 0.00003
NM_001267550.2(TTN):c.2370+9A>G rs373443384 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly) rs558169834 0.00003
NM_001267550.2(TTN):c.27124G>A (p.Val9042Ile) rs766095051 0.00003
NM_001267550.2(TTN):c.30137C>T (p.Thr10046Ile) rs535268419 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32555-12G>T rs397517540 0.00003
NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr) rs144963490 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 0.00003
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr) rs886055272 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp) rs767768313 0.00003
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557 0.00003
NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys) rs774137928 0.00003
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala) rs752204728 0.00003
NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala) rs779623773 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys) rs397517658 0.00003
NM_001267550.2(TTN):c.583+4C>T rs764670848 0.00003
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys) rs768427369 0.00003
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884 0.00003
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) rs767670018 0.00003
NM_001267550.2(TTN):c.62703A>G (p.Leu20901=) rs749180542 0.00003
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys) rs762999586 0.00003
NM_001267550.2(TTN):c.64047C>T (p.Gly21349=) rs775357802 0.00003
NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn) rs749018114 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu) rs368450785 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) rs1371471381 0.00003
NM_001267550.2(TTN):c.71793A>G (p.Pro23931=) rs780920316 0.00003
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) rs876658080 0.00003
NM_001267550.2(TTN):c.72C>G (p.Thr24=) rs876657615 0.00003
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) rs794727456 0.00003
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680 0.00003
NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys) rs145437410 0.00003
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=) rs375553630 0.00003
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His) rs377668457 0.00003
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) rs749194310 0.00003
NM_001267550.2(TTN):c.82241G>A (p.Arg27414Gln) rs763336230 0.00003
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) rs371539720 0.00003
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) rs368608059 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr) rs1460359915 0.00003
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542 0.00003
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr) rs745962752 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98954C>A (p.Pro32985His) rs1387380794 0.00003
NM_001849.4(COL6A2):c.*121C>A rs886057170 0.00003
NM_001849.4(COL6A2):c.*31C>T rs886057169 0.00003
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=) rs752243349 0.00003
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu) rs747184649 0.00003
NM_001927.4(DES):c.*559G>A rs547498920 0.00003
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
NM_001953.5(TYMP):c.-92C>T rs886057636 0.00003
NM_002488.4(NDUFA2):c.-53A>G rs747127939 0.00003
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333 0.00003
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) rs201430870 0.00003
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_003283.6(TNNT1):c.47-6C>G rs375682055 0.00003
NM_003673.4(TCAP):c.111-13C>T rs773913117 0.00003
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004281.4(BAG3):c.*199A>C rs950081061 0.00003
NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser) rs138267146 0.00003
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=) rs773807881 0.00003
NM_004320.6(ATP2A1):c.2456G>A (p.Arg819His) rs780765179 0.00003
NM_004544.4(NDUFA10):c.*1011A>G rs575477219 0.00003
NM_004544.4(NDUFA10):c.*2648C>T rs953906857 0.00003
NM_004544.4(NDUFA10):c.*3098A>T rs886055813 0.00003
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820 0.00003
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=) rs886060511 0.00003
NM_005006.7(NDUFS1):c.-61G>C rs367762150 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 0.00003
NM_005198.5(CHKB):c.*126C>T rs112742765 0.00003
NM_005198.5(CHKB):c.214T>C (p.Tyr72His) rs747691808 0.00003
NM_005198.5(CHKB):c.927+10C>G rs549171476 0.00003
NM_005476.7(GNE):c.*2245A>T rs1193929989 0.00003
NM_005476.7(GNE):c.*512C>T rs537851886 0.00003
NM_005476.7(GNE):c.-51C>T rs368282013 0.00003
NM_006790.3(MYOT):c.-286C>G rs1281967239 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_007078.3(LDB3):c.897-6664G>A rs376355443 0.00003
NM_007078.3(LDB3):c.897-6909G>A rs532856980 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879 0.00003
NM_007171.3(POMT1):c.-195C>T rs886063536 0.00003
NM_007171.3(POMT1):c.-196G>T rs886063535 0.00003
NM_007215.3(POLG2):c.-87G>A rs886053253 0.00003
NM_007215.4(POLG2):c.-85C>T rs886053252 0.00003
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys) rs754554333 0.00003
NM_012210.4(TRIM32):c.1720G>T (p.Asp574Tyr) rs886063379 0.00003
NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys) rs780867714 0.00003
NM_013382.7(POMT2):c.*349G>A rs886050822 0.00003
NM_013382.7(POMT2):c.*927G>C rs886050818 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_014165.4(NDUFAF4):c.*1334G>A rs763941216 0.00003
NM_014165.4(NDUFAF4):c.-49C>T rs372635399 0.00003
NM_017534.6(MYH2):c.-60T>C rs886052575 0.00003
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966 0.00003
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712 0.00003
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_018834.6(MATR3):c.*2171C>T rs886060004 0.00003
NM_018834.6(MATR3):c.*2222G>T rs886060005 0.00003
NM_018834.6(MATR3):c.*587A>G rs535027907 0.00003
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338 0.00003
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) rs775410920 0.00003
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806 0.00003
NM_025152.3(NUBPL):c.*1370C>T rs1031134034 0.00003
NM_025152.3(NUBPL):c.*1621C>T rs1315512923 0.00003
NM_025152.3(NUBPL):c.*2036A>C rs886050472 0.00003
NM_025215.6(PUS1):c.-246G>A rs886049090 0.00003
NM_025215.6(PUS1):c.-266G>C rs886049089 0.00003
NM_058246.4(DNAJB6):c.*289C>T rs886062131 0.00003
NM_058246.4(DNAJB6):c.*528C>T rs886062132 0.00003
NM_133642.5(LARGE1):c.*580C>T rs776235903 0.00003
NM_133642.5(LARGE1):c.*833A>G rs748248240 0.00003
NM_133642.5(LARGE1):c.*969G>A rs892305427 0.00003
NM_133642.5(LARGE1):c.-47C>T rs775356534 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_139343.3(BIN1):c.-62G>A rs886054836 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_152263.4(TPM3):c.*2101T>C rs151275058 0.00003
NM_152263.4(TPM3):c.*2423G>A rs1243423616 0.00003
NM_152263.4(TPM3):c.*303A>C rs555108967 0.00003
NM_152263.4(TPM3):c.*903C>T rs545353984 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045 0.00003
NM_182914.3(SYNE2):c.*305G>T rs886050605 0.00003
NM_182914.3(SYNE2):c.10164G>A (p.Ser3388=) rs772208833 0.00003
NM_182914.3(SYNE2):c.13524G>C (p.Leu4508=) rs373702093 0.00003
NM_182914.3(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895 0.00003
NM_182914.3(SYNE2):c.16094+4T>A rs769120290 0.00003
NM_182914.3(SYNE2):c.18104G>A (p.Arg6035His) rs963291095 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00003
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys) rs763133096 0.00003
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu) rs770940744 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_182961.4(SYNE1):c.-361G>T rs886061221 0.00003
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln) rs774322624 0.00003
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=) rs767967824 0.00003
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr) rs763051329 0.00003
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=) rs762665527 0.00003
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val) rs1055043180 0.00003
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys) rs373016793 0.00003
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=) rs758276004 0.00003
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe) rs886061212 0.00003
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr) rs764200857 0.00003
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107 0.00003
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser) rs139344099 0.00003
NM_000070.3(CAPN3):c.*375C>T rs1399469008 0.00002
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu) rs749614603 0.00002
NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr) rs762776236 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543 0.00002
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.2868T>C (p.Asp956=) rs140718120 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.4134C>T (p.Asp1378=) rs770630028 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000334.4(SCN4A):c.-23G>T rs747406998 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000540.3(RYR1):c.-31C>T rs375755030 0.00002
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=) rs757745087 0.00002
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met) rs762258310 0.00002
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00002
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829 0.00002
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=) rs770698609 0.00002
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=) rs569565316 0.00002
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys) rs777117206 0.00002
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560 0.00002
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000 0.00002
NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg) rs759947063 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys) rs748140394 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 0.00002
NM_000540.3(RYR1):c.9122+8G>A rs772116480 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=) rs753425281 0.00002
NM_001025389.2(AMPD3):c.1258A>G (p.Met420Val) rs184691110 0.00002
NM_001025389.2(AMPD3):c.1452G>A (p.Lys484=) rs371018918 0.00002
NM_001025389.2(AMPD3):c.2118C>T (p.Leu706=) rs1394943119 0.00002
NM_001040436.2(YARS2):c.-72C>G rs552674058 0.00002
NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys) rs777257006 0.00002
NM_001077365.2(POMT1):c.*64T>A rs892418533 0.00002
NM_001077365.2(POMT1):c.*693C>T rs886063541 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001079802.2(FKTN):c.*2464G>A rs1054760144 0.00002
NM_001079802.2(FKTN):c.*3352C>A rs143805719 0.00002
NM_001079802.2(FKTN):c.-39G>A rs1284252327 0.00002
NM_001100.4(ACTA1):c.809-16_809-15insG rs746125735 0.00002
NM_001101362.3(KBTBD13):c.*1421C>T rs374389911 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.759+10G>A rs200198865 0.00002
NM_001151.4(SLC25A4):c.*655G>C rs951763559 0.00002
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=) rs371771414 0.00002
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys) rs762876022 0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met) rs746737604 0.00002
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573 0.00002
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu) rs369054525 0.00002
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln) rs886054926 0.00002
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp) rs561904743 0.00002
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys) rs542706227 0.00002
NM_001164508.2(NEB):c.2940T>C (p.Asn980=) rs1472489170 0.00002
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562 0.00002
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=) rs1023030953 0.00002
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) rs1458182449 0.00002
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys) rs749644826 0.00002
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr) rs748150530 0.00002
NM_001256545.2(MEGF10):c.*1901C>T rs1188462262 0.00002
NM_001256545.2(MEGF10):c.*1953G>C rs750967805 0.00002
NM_001256545.2(MEGF10):c.*1983T>C rs1034430879 0.00002
NM_001256545.2(MEGF10):c.*2106T>C rs886059872 0.00002
NM_001256545.2(MEGF10):c.1058G>A (p.Arg353His) rs146940427 0.00002
NM_001256545.2(MEGF10):c.1426+5G>T rs148197499 0.00002
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=) rs770936974 0.00002
NM_001256545.2(MEGF10):c.418G>A (p.Asp140Asn) rs750650046 0.00002
NM_001267550.2(TTN):c.*919G>C rs752604042 0.00002
NM_001267550.2(TTN):c.10000G>A (p.Val3334Met) rs886055299 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=) rs542799064 0.00002
NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser) rs761821275 0.00002
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys) rs3813249 0.00002
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441 0.00002
NM_001267550.2(TTN):c.106293T>C (p.Val35431=) rs749108651 0.00002
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) rs530572005 0.00002
NM_001267550.2(TTN):c.15775+15A>C rs776801864 0.00002
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala) rs377023302 0.00002
NM_001267550.2(TTN):c.18427G>A (p.Gly6143Arg) rs757453585 0.00002
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353 0.00002
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu) rs774362265 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp) rs184123332 0.00002
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=) rs754815317 0.00002
NM_001267550.2(TTN):c.24039G>A (p.Pro8013=) rs768390615 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) rs200572298 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.28175-10C>T rs748478445 0.00002
NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys) rs778573156 0.00002
NM_001267550.2(TTN):c.28754-11T>C rs146738622 0.00002
NM_001267550.2(TTN):c.33126C>T (p.Val11042=) rs72650036 0.00002
NM_001267550.2(TTN):c.3380+12G>T rs775071824 0.00002
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr) rs368157806 0.00002
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251 0.00002
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val) rs754227553 0.00002
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys) rs377015571 0.00002
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys) rs77496539 0.00002
NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val) rs780634456 0.00002
NM_001267550.2(TTN):c.52142T>C (p.Ile17381Thr) rs775637498 0.00002
NM_001267550.2(TTN):c.53881+3G>A rs1160974431 0.00002
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys) rs537070177 0.00002
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu) rs769129424 0.00002
NM_001267550.2(TTN):c.59247C>T (p.Asp19749=) rs587780491 0.00002
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.60242A>G (p.Asp20081Gly) rs369680191 0.00002
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe) rs773806020 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) rs748901968 0.00002
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466 0.00002
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala) rs72646860 0.00002
NM_001267550.2(TTN):c.6491C>T (p.Ala2164Val) rs1338410239 0.00002
NM_001267550.2(TTN):c.6508+15T>C rs747722195 0.00002
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=) rs371324060 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.68450G>A (p.Arg22817Gln) rs372496072 0.00002
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met) rs764263517 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile) rs759432194 0.00002
NM_001267550.2(TTN):c.7524T>C (p.His2508=) rs2291307 0.00002
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly) rs767430531 0.00002
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu) rs912454417 0.00002
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val) rs371325635 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=) rs756176112 0.00002
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His) rs749606240 0.00002
NM_001267550.2(TTN):c.89410G>A (p.Val29804Ile) rs747784568 0.00002
NM_001267550.2(TTN):c.8991C>A (p.Ile2997=) rs757524187 0.00002
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) rs374474227 0.00002
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=) rs771773845 0.00002
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=) rs764189986 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.96030A>G (p.Glu32010=) rs144101806 0.00002
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) rs779723670 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=) rs140324736 0.00002
NM_001849.4(COL6A2):c.2264C>T (p.Thr755Met) rs369954815 0.00002
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) rs771700483 0.00002
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=) rs200255683 0.00002
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) rs1022912416 0.00002
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_003283.6(TNNT1):c.73+15T>G rs759885491 0.00002
NM_003289.4(TPM2):c.*199C>T rs965743785 0.00002
NM_003289.4(TPM2):c.773-3C>A rs199476157 0.00002
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407 0.00002
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) rs758252610 0.00002
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349 0.00002
NM_004281.4(BAG3):c.-155C>G rs963964101 0.00002
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=) rs757274362 0.00002
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=) rs749931257 0.00002
NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) rs886051883 0.00002
NM_004320.6(ATP2A1):c.515C>T (p.Thr172Met) rs779457144 0.00002
NM_004543.4(NEB):c.-195C>T rs773435967 0.00002
NM_004544.4(NDUFA10):c.*1665C>A rs1314058965 0.00002
NM_004544.4(NDUFA10):c.*2382C>A rs1289543938 0.00002
NM_004544.4(NDUFA10):c.*3113G>A rs886055812 0.00002
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872 0.00002
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) rs749199433 0.00002
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) rs1222086753 0.00002
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502 0.00002
NM_005198.5(CHKB):c.722A>G (p.Asn241Ser) rs371751084 0.00002
NM_005198.5(CHKB):c.745T>C (p.Leu249=) rs760310819 0.00002
NM_005476.7(GNE):c.*2431A>G rs917794045 0.00002
NM_005476.7(GNE):c.*2766T>C rs886063916 0.00002
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) rs752723849 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_007078.3(LDB3):c.897-6831C>T rs886047355 0.00002
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) rs753686111 0.00002
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) rs368184231 0.00002
NM_012210.4(TRIM32):c.*530C>T rs192837427 0.00002
NM_012210.4(TRIM32):c.*935A>G rs886063384 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012210.4(TRIM32):c.978C>T (p.Asp326=) rs759707001 0.00002
NM_013382.7(POMT2):c.*1053A>G rs886050817 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825 0.00002
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824 0.00002
NM_014165.4(NDUFAF4):c.-65C>G rs1463385663 0.00002
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_015713.5(RRM2B):c.*2885A>G rs29000291 0.00002
NM_015713.5(RRM2B):c.*788T>C rs559700946 0.00002
NM_016013.4(NDUFAF1):c.-140C>T rs886051144 0.00002
NM_016013.4(NDUFAF1):c.-34C>G rs751720445 0.00002
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045 0.00002
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr) rs769463886 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270 0.00002
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln) rs201882457 0.00002
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) rs751634994 0.00002
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) rs749675822 0.00002
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152 0.00002
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00002
NM_018834.6(MATR3):c.*1143G>A rs1357784533 0.00002
NM_018834.6(MATR3):c.*2170T>G rs1403800962 0.00002
NM_018834.6(MATR3):c.*262A>G rs1378690022 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_025152.3(NUBPL):c.422+8T>C rs868061310 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_058246.4(DNAJB6):c.*299A>G rs939042113 0.00002
NM_058246.4(DNAJB6):c.*307G>A rs1286436589 0.00002
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=) rs758663546 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.2070G>A (p.Val690=) rs771631103 0.00002
NM_138638.5(CFL2):c.*1886G>A rs544351937 0.00002
NM_138638.5(CFL2):c.*720A>T rs771461390 0.00002
NM_139343.3(BIN1):c.*301C>T rs886054830 0.00002
NM_152263.4(TPM3):c.*1447G>A rs1005684992 0.00002
NM_152263.4(TPM3):c.*3298A>G rs946669485 0.00002
NM_152263.4(TPM3):c.*3860C>T rs763202740 0.00002
NM_152263.4(TPM3):c.*406T>C rs886045314 0.00002
NM_152263.4(TPM3):c.*4513G>A rs886045296 0.00002
NM_152263.4(TPM3):c.*499C>A rs745782085 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068 0.00002
NM_175614.4(NDUFA11):c.-210T>C rs886054650 0.00002
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=) rs941748424 0.00002
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr) rs746878775 0.00002
NM_182914.3(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131 0.00002
NM_182914.3(SYNE2):c.1195C>A (p.Leu399Ile) rs751800008 0.00002
NM_182914.3(SYNE2):c.12108+3A>G rs751551602 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.13159-3C>T rs1277619996 0.00002
NM_182914.3(SYNE2):c.16304T>G (p.Leu5435Arg) rs750900424 0.00002
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys) rs747214483 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.18385A>G (p.Met6129Val) rs766731181 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.2646+6A>T rs768967034 0.00002
NM_182914.3(SYNE2):c.4931C>T (p.Ala1644Val) rs771776215 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253 0.00002
NM_182961.4(SYNE1):c.15408T>C (p.His5136=) rs776024178 0.00002
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile) rs770022371 0.00002
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro) rs773155844 0.00002
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe) rs886061196 0.00002
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514 0.00002
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn) rs1449605743 0.00002
NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile) rs551062879 0.00002
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937 0.00002
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_000070.3(CAPN3):c.*436G>A rs1285650098 0.00001
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His) rs762091599 0.00001
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=) rs79440238 0.00001
NM_000070.3(CAPN3):c.2051-8C>T rs754375124 0.00001
NM_000070.3(CAPN3):c.2219G>A (p.Gly740Asp) rs750162858 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=) rs781587827 0.00001
NM_000083.3(CLCN1):c.1598C>G (p.Thr533Ser) rs1316380335 0.00001
NM_000083.3(CLCN1):c.2114C>G (p.Pro705Arg) rs1803220621 0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.562+6A>C rs1245612236 0.00001
NM_000083.3(CLCN1):c.697-9C>A rs201207110 0.00001
NM_000083.3(CLCN1):c.756G>A (p.Val252=) rs886062034 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000183.2(HADHB):c.-202G>A rs886055865 0.00001
NM_000183.2(HADHB):c.-235delT rs886055864 0.00001
NM_000183.3(HADHB):c.-53C>T rs1187378058 0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755 0.00001
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) rs781574694 0.00001
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly) rs971767907 0.00001
NM_000183.3(HADHB):c.443-10T>C rs371257973 0.00001
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu) rs758393205 0.00001
NM_000257.4(MYH7):c.*81G>A rs938515730 0.00001
NM_000257.4(MYH7):c.1000-13G>T rs772831757 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1139-4C>T rs886050422 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr) rs771599539 0.00001
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg) rs1298804415 0.00001
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr) rs1159928168 0.00001
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His) rs200000290 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly) rs730880824 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000257.4(MYH7):c.639+13C>T rs1346778409 0.00001
NM_000257.4(MYH7):c.801T>C (p.Leu267=) rs1171861442 0.00001
NM_000334.4(SCN4A):c.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000540.3(RYR1):c.-118G>A rs1972297039 0.00001
NM_000540.3(RYR1):c.10441-8T>C rs755330618 0.00001
NM_000540.3(RYR1):c.11193+3G>A rs886054400 0.00001
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=) rs776123178 0.00001
NM_000540.3(RYR1):c.11735T>A (p.Ile3912Asn) rs150588606 0.00001
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00001
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe) rs763042731 0.00001
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=) rs764395582 0.00001
NM_000540.3(RYR1):c.12802G>A (p.Ala4268Thr) rs886054404 0.00001
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr) rs746798861 0.00001
NM_000540.3(RYR1):c.13089C>A (p.Phe4363Leu) rs757097846 0.00001
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) rs794727983 0.00001
NM_000540.3(RYR1):c.13807G>C (p.Gly4603Arg) rs373231458 0.00001
NM_000540.3(RYR1):c.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg) rs1974034199 0.00001
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=) rs886054411 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.199G>A (p.Val67Ile) rs761182247 0.00001
NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser) rs558181103 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.2646G>A (p.Ala882=) rs375163703 0.00001
NM_000540.3(RYR1):c.2682+13C>T rs745844424 0.00001
NM_000540.3(RYR1):c.2823G>A (p.Ala941=) rs750305530 0.00001
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804 0.00001
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His) rs764009626 0.00001
NM_000540.3(RYR1):c.3299G>A (p.Arg1100His) rs755973279 0.00001
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=) rs763082630 0.00001
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=) rs915321867 0.00001
NM_000540.3(RYR1):c.4061A>C (p.Glu1354Ala) rs1458779012 0.00001
NM_000540.3(RYR1):c.4122T>A (p.Asn1374Lys) rs886054382 0.00001
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His) rs150499158 0.00001
NM_000540.3(RYR1):c.4480G>C (p.Val1494Leu) rs886054387 0.00001
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=) rs886038331 0.00001
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=) rs147901772 0.00001
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=) rs200600174 0.00001
NM_000540.3(RYR1):c.550G>A (p.Ala184Thr) rs766256366 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr) rs886054379 0.00001
NM_000540.3(RYR1):c.6128-3C>T rs775568216 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.683A>G (p.Glu228Gly) rs1260538999 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=) rs758872814 0.00001
NM_000540.3(RYR1):c.7640C>T (p.Ala2547Val) rs751482960 0.00001
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645 0.00001
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=) rs777420696 0.00001
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=) rs547048377 0.00001
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro) rs1425983637 0.00001
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=) rs745619519 0.00001
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00001
NM_000540.3(RYR1):c.8550T>C (p.Asp2850=) rs767925886 0.00001
NM_000540.3(RYR1):c.8692+15G>A rs1219182533 0.00001
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys) rs779597449 0.00001
NM_000540.3(RYR1):c.9001-8G>A rs768611849 0.00001
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=) rs144067910 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9554+13A>T rs1265960627 0.00001
NM_000540.3(RYR1):c.9638A>G (p.Tyr3213Cys) rs886054398 0.00001
NM_000540.3(RYR1):c.9685+8G>T rs752615788 0.00001
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val) rs1449733977 0.00001
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=) rs764290955 0.00001
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.-153G>T rs886054138 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001025389.1(AMPD3):c.-240A>G rs886047584 0.00001
NM_001025389.1(AMPD3):c.-263T>C rs1336172653 0.00001
NM_001025389.2(AMPD3):c.-116A>C rs891567072 0.00001
NM_001025389.2(AMPD3):c.1087C>T (p.His363Tyr) rs886047587 0.00001
NM_001025389.2(AMPD3):c.1090A>G (p.Met364Val) rs979808372 0.00001
NM_001025389.2(AMPD3):c.110C>T (p.Ala37Val) rs375814372 0.00001
NM_001025389.2(AMPD3):c.1304A>G (p.Tyr435Cys) rs201772411 0.00001
NM_001025389.2(AMPD3):c.1496C>T (p.Pro499Leu) rs1446342474 0.00001
NM_001025389.2(AMPD3):c.1614C>T (p.Ser538=) rs781317958 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282 0.00001
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259 0.00001
NM_001042631.3(SDHAF1):c.-64C>G rs886054354 0.00001
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001079802.2(FKTN):c.*1276C>T rs886063325 0.00001
NM_001079802.2(FKTN):c.*1511A>G rs886063326 0.00001
NM_001079802.2(FKTN):c.*166A>G rs1419619269 0.00001
NM_001079802.2(FKTN):c.*324G>C rs536822992 0.00001
NM_001079802.2(FKTN):c.*4501A>G rs1045549173 0.00001
NM_001079802.2(FKTN):c.*4599G>A rs886063338 0.00001
NM_001079802.2(FKTN):c.*462T>C rs1014071784 0.00001
NM_001079802.2(FKTN):c.*4908A>G rs1834324161 0.00001
NM_001079802.2(FKTN):c.*4940C>G rs886063339 0.00001
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.-114G>A rs1564210000 0.00001
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001100.4(ACTA1):c.*66G>A rs1403018747 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_001101362.3(KBTBD13):c.*1112C>T rs886051342 0.00001
NM_001101362.3(KBTBD13):c.*380A>G rs932464244 0.00001
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=) rs886051334 0.00001
NM_001101362.3(KBTBD13):c.396C>G (p.Gly132=) rs1232211104 0.00001
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) rs555158930 0.00001
NM_001128227.3(GNE):c.52-9097C>T rs886063929 0.00001
NM_001130987.2(DYSF):c.1276+13C>T rs373530549 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) rs886056280 0.00001
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283 0.00001
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001151.4(SLC25A4):c.*2037del rs886059273 0.00001
NM_001151.4(SLC25A4):c.*2350G>C rs886059274 0.00001
NM_001151.4(SLC25A4):c.*2782G>A rs886059276 0.00001
NM_001151.4(SLC25A4):c.*3264G>A rs1246606859 0.00001
NM_001151.4(SLC25A4):c.*3335C>T rs1734517872 0.00001
NM_001151.4(SLC25A4):c.*3394A>G rs1449333012 0.00001
NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) rs772055424 0.00001
NM_001164508.2(NEB):c.*36C>T rs773628949 0.00001
NM_001164508.2(NEB):c.*95G>A rs2049714734 0.00001
NM_001164508.2(NEB):c.-167G>T rs886054948 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 0.00001
NM_001164508.2(NEB):c.11023A>G (p.Thr3675Ala) rs771318349 0.00001
NM_001164508.2(NEB):c.11037G>A (p.Glu3679=) rs886054942 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.1227C>T (p.Leu409=) rs371658494 0.00001
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val) rs761807814 0.00001
NM_001164508.2(NEB):c.1698G>A (p.Glu566=) rs1242070276 0.00001
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 0.00001
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060 0.00001
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu) rs764417105 0.00001
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser) rs1292580496 0.00001
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile) rs368484176 0.00001
NM_001164508.2(NEB):c.19699C>A (p.His6567Asn) rs886054933 0.00001
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu) rs765189771 0.00001
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys) rs767886794 0.00001
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr) rs199722285 0.00001
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val) rs372042301 0.00001
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser) rs770240346 0.00001
NM_001164508.2(NEB):c.21209A>G (p.Tyr7070Cys) rs754366347 0.00001
NM_001164508.2(NEB):c.22272+7T>C rs762551492 0.00001
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala) rs886054928 0.00001
NM_001164508.2(NEB):c.22502A>G (p.Asp7501Gly) rs771620082 0.00001
NM_001164508.2(NEB):c.22801-7T>C rs368298970 0.00001
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly) rs776739582 0.00001
NM_001164508.2(NEB):c.22970C>T (p.Thr7657Met) rs770889470 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.23024A>T (p.Tyr7675Phe) rs1284363805 0.00001
NM_001164508.2(NEB):c.24449T>C (p.Met8150Thr) rs774559645 0.00001
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His) rs781388562 0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=) rs763433145 0.00001
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys) rs766943894 0.00001
NM_001164508.2(NEB):c.4102C>T (p.Arg1368Cys) rs772128314 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=) rs757546480 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6227T>A (p.Val2076Asp) rs1031350120 0.00001
NM_001164508.2(NEB):c.7016A>G (p.Lys2339Arg) rs1452924362 0.00001
NM_001164508.2(NEB):c.7228-5C>T rs773213959 0.00001
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888 0.00001
NM_001164508.2(NEB):c.934T>C (p.Tyr312His) rs1031048700 0.00001
NM_001164508.2(NEB):c.9848G>A (p.Gly3283Asp) rs2098553051 0.00001
NM_001173464.2(KIF21A):c.*326T>A rs886049337 0.00001
NM_001173464.2(KIF21A):c.*531T>C rs1479577907 0.00001
NM_001173464.2(KIF21A):c.268-14G>T rs762377796 0.00001
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) rs886049344 0.00001
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) rs749290916 0.00001
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) rs886049339 0.00001
NM_001173464.2(KIF21A):c.681T>C (p.His227=) rs753495640 0.00001
NM_001256545.2(MEGF10):c.*1469G>A rs886059867 0.00001
NM_001256545.2(MEGF10):c.*154C>T rs541612518 0.00001
NM_001256545.2(MEGF10):c.*2329T>C rs1231565813 0.00001
NM_001256545.2(MEGF10):c.*2518C>T rs1333924981 0.00001
NM_001256545.2(MEGF10):c.*3053A>G rs778103087 0.00001
NM_001256545.2(MEGF10):c.*3577T>C rs886059878 0.00001
NM_001256545.2(MEGF10):c.*559G>A rs886059866 0.00001
NM_001256545.2(MEGF10):c.*663A>C rs1328954894 0.00001
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=) rs145815113 0.00001
NM_001256545.2(MEGF10):c.1081G>A (p.Gly361Ser) rs757939016 0.00001
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=) rs781762135 0.00001
NM_001256545.2(MEGF10):c.1682C>T (p.Pro561Leu) rs376978969 0.00001
NM_001256545.2(MEGF10):c.1750C>A (p.Pro584Thr) rs148212621 0.00001
NM_001256545.2(MEGF10):c.1783C>G (p.Pro595Ala) rs761416158 0.00001
NM_001256545.2(MEGF10):c.1876C>G (p.Gln626Glu) rs375356838 0.00001
NM_001256545.2(MEGF10):c.212G>A (p.Arg71Gln) rs886059862 0.00001
NM_001256545.2(MEGF10):c.3224A>G (p.Tyr1075Cys) rs1302032599 0.00001
NM_001256545.2(MEGF10):c.422G>A (p.Gly141Asp) rs756329251 0.00001
NM_001256545.2(MEGF10):c.780+9C>T rs886059863 0.00001
NM_001256545.2(MEGF10):c.789G>A (p.Val263=) rs1188804374 0.00001
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=) rs145870973 0.00001
NM_001267550.2(TTN):c.*183A>G rs534998626 0.00001
NM_001267550.2(TTN):c.*280A>G rs549242855 0.00001
NM_001267550.2(TTN):c.*504G>A rs957184446 0.00001
NM_001267550.2(TTN):c.*633C>T rs1242028803 0.00001
NM_001267550.2(TTN):c.-217G>A rs886055311 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu) rs773862320 0.00001
NM_001267550.2(TTN):c.103178C>T (p.Thr34393Ile) rs372299779 0.00001
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His) rs190398670 0.00001
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=) rs1575245592 0.00001
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr) rs886055222 0.00001
NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr) rs779363624 0.00001
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=) rs775644738 0.00001
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=) rs377340289 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.1446C>T (p.Ala482=) rs183258737 0.00001
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=) rs761269554 0.00001
NM_001267550.2(TTN):c.15499C>A (p.Pro5167Thr) rs1031284707 0.00001
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln) rs749816144 0.00001
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met) rs372176136 0.00001
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438 0.00001
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=) rs754798297 0.00001
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met) rs928844023 0.00001
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val) rs374012753 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu) rs373750655 0.00001
NM_001267550.2(TTN):c.19497T>C (p.His6499=) rs1223390157 0.00001
NM_001267550.2(TTN):c.19994-13C>T rs775393005 0.00001
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe) rs189557659 0.00001
NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro) rs727504741 0.00001
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=) rs878903172 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=) rs775230627 0.00001
NM_001267550.2(TTN):c.22240+14A>G rs1288832655 0.00001
NM_001267550.2(TTN):c.22673G>T (p.Gly7558Val) rs886055294 0.00001
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) rs144032104 0.00001
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr) rs138076523 0.00001
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln) rs1161435142 0.00001
NM_001267550.2(TTN):c.24613A>G (p.Ile8205Val) rs747306219 0.00001
NM_001267550.2(TTN):c.2494-5T>C rs370759512 0.00001
NM_001267550.2(TTN):c.25640-4A>G rs886055292 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg) rs375067750 0.00001
NM_001267550.2(TTN):c.26753A>G (p.Gln8918Arg) rs760040495 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27654T>G (p.Val9218=) rs780101457 0.00001
NM_001267550.2(TTN):c.27747G>A (p.Thr9249=) rs778970711 0.00001
NM_001267550.2(TTN):c.27856G>T (p.Val9286Phe) rs777547707 0.00001
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747 0.00001
NM_001267550.2(TTN):c.28011C>T (p.Asp9337=) rs757848062 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.30682+7T>C rs752353097 0.00001
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys) rs886055287 0.00001
NM_001267550.2(TTN):c.31274T>C (p.Ile10425Thr) rs1198546466 0.00001
NM_001267550.2(TTN):c.31710G>C (p.Glu10570Asp) rs1338646609 0.00001
NM_001267550.2(TTN):c.31764C>T (p.Val10588=) rs766441395 0.00001
NM_001267550.2(TTN):c.31865G>A (p.Gly10622Glu) rs2071793480 0.00001
NM_001267550.2(TTN):c.32011+15T>G rs886055285 0.00001
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=) rs747597729 0.00001
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val) rs528216574 0.00001
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn) rs370317568 0.00001
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) rs773225325 0.00001
NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val) rs886055284 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr) rs545067681 0.00001
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr) rs769195017 0.00001
NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg) rs181375012 0.00001
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=) rs886055281 0.00001
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys) rs765827814 0.00001
NM_001267550.2(TTN):c.34247A>T (p.Glu11416Val) rs886055280 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.3729+4A>G rs1170576212 0.00001
NM_001267550.2(TTN):c.39044-15C>T rs749495580 0.00001
NM_001267550.2(TTN):c.39465G>A (p.Val13155=) rs886055279 0.00001
NM_001267550.2(TTN):c.39709+7G>A rs750763722 0.00001
NM_001267550.2(TTN):c.39766A>G (p.Lys13256Glu) rs762177160 0.00001
NM_001267550.2(TTN):c.39835A>G (p.Lys13279Glu) rs2062656094 0.00001
NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly) rs1203373476 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys) rs528749203 0.00001
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=) rs750761966 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.40786+3G>A rs551963261 0.00001
NM_001267550.2(TTN):c.41428G>A (p.Val13810Met) rs763668057 0.00001
NM_001267550.2(TTN):c.416G>A (p.Arg139Gln) rs780003580 0.00001
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr) rs777451130 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) rs397517572 0.00001
NM_001267550.2(TTN):c.44096C>G (p.Ser14699Cys) rs1293270234 0.00001
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln) rs727505019 0.00001
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn) rs753053245 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.45653G>A (p.Arg15218Gln) rs548035065 0.00001
NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=) rs532009022 0.00001
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly) rs886055274 0.00001
NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile) rs148808516 0.00001
NM_001267550.2(TTN):c.47684T>C (p.Ile15895Thr) rs768530598 0.00001
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu) rs764059405 0.00001
NM_001267550.2(TTN):c.47875+12T>G rs758849410 0.00001
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=) rs779940754 0.00001
NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys) rs758399903 0.00001
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=) rs760816246 0.00001
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met) rs771120250 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) rs772152172 0.00001
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=) rs755324231 0.00001
NM_001267550.2(TTN):c.49988T>C (p.Ile16663Thr) rs774556838 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.50538T>C (p.Ile16846=) rs763711863 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser) rs752852690 0.00001
NM_001267550.2(TTN):c.52032T>C (p.His17344=) rs374254751 0.00001
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His) rs886055267 0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556 0.00001
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) rs760963888 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) rs755252821 0.00001
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys) rs756341923 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr) rs727503597 0.00001
NM_001267550.2(TTN):c.56264G>A (p.Arg18755His) rs772767570 0.00001
NM_001267550.2(TTN):c.56362C>T (p.Pro18788Ser) rs1363268909 0.00001
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=) rs771353550 0.00001
NM_001267550.2(TTN):c.58207G>C (p.Ala19403Pro) rs545185154 0.00001
NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=) rs749167827 0.00001
NM_001267550.2(TTN):c.5851G>A (p.Val1951Ile) rs765382880 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=) rs761455000 0.00001
NM_001267550.2(TTN):c.60302T>C (p.Ile20101Thr) rs777610858 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.61048C>T (p.Leu20350Phe) rs1162158537 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met) rs886042497 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr) rs376338324 0.00001
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu) rs776468606 0.00001
NM_001267550.2(TTN):c.64453C>A (p.Arg21485=) rs768345594 0.00001
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr) rs752724337 0.00001
NM_001267550.2(TTN):c.64973-12C>G rs918265990 0.00001
NM_001267550.2(TTN):c.65022C>T (p.Asp21674=) rs866763453 0.00001
NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp) rs371802736 0.00001
NM_001267550.2(TTN):c.6517T>G (p.Leu2173Val) rs760798049 0.00001
NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val) rs781121273 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.66552C>T (p.Gly22184=) rs146502705 0.00001
NM_001267550.2(TTN):c.67063C>T (p.Pro22355Ser) rs794729481 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro) rs1359881893 0.00001
NM_001267550.2(TTN):c.68528-8T>C rs746223377 0.00001
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr) rs879119970 0.00001
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) rs56141309 0.00001
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro) rs886055249 0.00001
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=) rs373388052 0.00001
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) rs777101912 0.00001
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys) rs778284888 0.00001
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) rs140018785 0.00001
NM_001267550.2(TTN):c.72994G>T (p.Val24332Phe) rs876658081 0.00001
NM_001267550.2(TTN):c.73024A>G (p.Ile24342Val) rs1051443527 0.00001
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) rs376041680 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) rs745832906 0.00001
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser) rs748412838 0.00001
NM_001267550.2(TTN):c.75366G>A (p.Val25122=) rs750424357 0.00001
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=) rs886055246 0.00001
NM_001267550.2(TTN):c.75983C>T (p.Pro25328Leu) rs758581188 0.00001
NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile) rs773127796 0.00001
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) rs886055245 0.00001
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile) rs1332594097 0.00001
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=) rs747430905 0.00001
NM_001267550.2(TTN):c.7781T>C (p.Met2594Thr) rs764016233 0.00001
NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys) rs373530641 0.00001
NM_001267550.2(TTN):c.78654T>C (p.His26218=) rs886055244 0.00001
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) rs727504673 0.00001
NM_001267550.2(TTN):c.80145C>G (p.Val26715=) rs761074887 0.00001
NM_001267550.2(TTN):c.80185G>C (p.Ala26729Pro) rs1252013447 0.00001
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr) rs761384994 0.00001
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=) rs539234338 0.00001
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser) rs749305586 0.00001
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp) rs746488250 0.00001
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) rs754175266 0.00001
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) rs886055240 0.00001
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr) rs886055239 0.00001
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 0.00001
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp) rs373745130 0.00001
NM_001267550.2(TTN):c.83351C>T (p.Thr27784Met) rs140879454 0.00001
NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys) rs527624888 0.00001
NM_001267550.2(TTN):c.83827G>A (p.Gly27943Arg) rs886055236 0.00001
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=) rs755164013 0.00001
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=) rs766611189 0.00001
NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly) rs751860205 0.00001
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys) rs776756769 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala) rs147895770 0.00001
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=) rs886055235 0.00001
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=) rs886055233 0.00001
NM_001267550.2(TTN):c.864C>T (p.His288=) rs772543040 0.00001
NM_001267550.2(TTN):c.88009+5G>A rs148231754 0.00001
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=) rs201658018 0.00001
NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val) rs117097948 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.90161C>T (p.Pro30054Leu) rs767891763 0.00001
NM_001267550.2(TTN):c.90652A>G (p.Thr30218Ala) rs768528782 0.00001
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp) rs751610164 0.00001
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr) rs984360776 0.00001
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) rs535151633 0.00001
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) rs545632095 0.00001
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) rs1280272876 0.00001
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=) rs377521708 0.00001
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys) rs727503549 0.00001
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=) rs764363274 0.00001
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) rs794729539 0.00001
NM_001267550.2(TTN):c.95824G>A (p.Val31942Ile) rs757627281 0.00001
NM_001267550.2(TTN):c.95829A>G (p.Gly31943=) rs572618111 0.00001
NM_001267550.2(TTN):c.96592C>G (p.Leu32198Val) rs752075170 0.00001
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val) rs727504981 0.00001
NM_001267550.2(TTN):c.97112T>G (p.Ile32371Ser) rs748682168 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His) rs750047570 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.98169A>C (p.Arg32723Ser) rs753058072 0.00001
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372 0.00001
NM_001267550.2(TTN):c.98803G>A (p.Glu32935Lys) rs1407053984 0.00001
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) rs758109676 0.00001
NM_001267550.2(TTN):c.9918G>A (p.Ala3306=) rs533798702 0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) rs747130957 0.00001
NM_001289808.2(CRYAB):c.*60G>A rs540926728 0.00001
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=) rs886045464 0.00001
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=) rs569128565 0.00001
NM_001849.4(COL6A2):c.1734+14C>T rs886057167 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.537G>A (p.Arg179=) rs762450920 0.00001
NM_001927.4(DES):c.*428G>C rs886055654 0.00001
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) rs760529157 0.00001
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) rs145056860 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_001953.5(TYMP):c.930G>A (p.Gly310=) rs773100466 0.00001
NM_002488.4(NDUFA2):c.-145T>A rs886060017 0.00001
NM_002496.4(NDUFS8):c.*26T>G rs886048592 0.00001
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259 0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134 0.00001
NM_002496.4(NDUFS8):c.501+12C>G rs372004236 0.00001
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) rs1371377502 0.00001
NM_003283.6(TNNT1):c.34G>C (p.Glu12Gln) rs748000993 0.00001
NM_003283.6(TNNT1):c.366C>T (p.Arg122=) rs375999352 0.00001
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp) rs757227738 0.00001
NM_003283.6(TNNT1):c.757G>A (p.Val253Met) rs572119503 0.00001
NM_003673.4(TCAP):c.282C>T (p.Phe94=) rs749565002 0.00001
NM_003863.3(DPM2):c.-208G>A rs1290789503 0.00001
NM_003863.3(DPM2):c.-88C>T rs886063484 0.00001
NM_003863.4(DPM2):c.*14A>T rs1352343761 0.00001
NM_003863.4(DPM2):c.*529G>A rs926580610 0.00001
NM_004168.3(SDHA):c.-63G>A rs886060513 0.00001
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) rs778667374 0.00001
NM_004168.4(SDHA):c.558C>T (p.Ala186=) rs199618059 0.00001
NM_004168.4(SDHA):c.896-11G>T rs774043076 0.00001
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser) rs774241343 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu) rs751261054 0.00001
NM_004320.6(ATP2A1):c.1184+12A>G rs375336581 0.00001
NM_004320.6(ATP2A1):c.2285G>A (p.Arg762His) rs886051882 0.00001
NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969 0.00001
NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile) rs779823220 0.00001
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) rs781369773 0.00001
NM_004320.6(ATP2A1):c.675C>T (p.Thr225=) rs753160368 0.00001
NM_004544.4(NDUFA10):c.*105G>A rs886055825 0.00001
NM_004544.4(NDUFA10):c.*1262C>T rs759194775 0.00001
NM_004544.4(NDUFA10):c.*1709T>C rs562457080 0.00001
NM_004544.4(NDUFA10):c.*1927G>C rs1227609332 0.00001
NM_004544.4(NDUFA10):c.*1930C>G rs535714073 0.00001
NM_004544.4(NDUFA10):c.*2192T>A rs886055817 0.00001
NM_004544.4(NDUFA10):c.*2350G>A rs1218747092 0.00001
NM_004544.4(NDUFA10):c.*3143C>T rs1357789210 0.00001
NM_004544.4(NDUFA10):c.*3711A>G rs1466622883 0.00001
NM_004544.4(NDUFA10):c.*445C>G rs563264912 0.00001
NM_004544.4(NDUFA10):c.*489A>G rs886055824 0.00001
NM_004544.4(NDUFA10):c.*804T>C rs1422021026 0.00001
NM_004544.4(NDUFA10):c.*857G>C rs1303822860 0.00001
NM_004544.4(NDUFA10):c.460+5A>G rs1158773739 0.00001
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) rs980893132 0.00001
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) rs1188020120 0.00001
NM_004550.5(NDUFS2):c.-159C>A rs886045456 0.00001
NM_004551.2(NDUFS3):c.-41T>C rs750965789 0.00001
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) rs201457989 0.00001
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) rs780005953 0.00001
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760 0.00001
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) rs201371939 0.00001
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617 0.00001
NM_004553.6(NDUFS6):c.27G>C (p.Arg9=) rs886060512 0.00001
NM_005006.7(NDUFS1):c.*641A>G rs886055501 0.00001
NM_005006.7(NDUFS1):c.*756A>T rs755460274 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) rs1434275816 0.00001
NM_005006.7(NDUFS1):c.261+6T>C rs748906579 0.00001
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) rs780235386 0.00001
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275 0.00001
NM_005006.7(NDUFS1):c.63T>C (p.Val21=) rs756632601 0.00001
NM_005138.3(SCO2):c.-51C>T rs886057631 0.00001
NM_005138.3(SCO2):c.4C>G (p.Leu2Val) rs747642461 0.00001
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys) rs780314255 0.00001
NM_005198.5(CHKB):c.-13T>C rs2070729352 0.00001
NM_005198.5(CHKB):c.1031+12G>A rs777277938 0.00001
NM_005198.5(CHKB):c.1114-6C>T rs151123092 0.00001
NM_005198.5(CHKB):c.234C>G (p.Leu78=) rs929019284 0.00001
NM_005198.5(CHKB):c.678-12A>G rs749813559 0.00001
NM_005198.5(CHKB):c.692C>G (p.Ser231Cys) rs199783402 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005476.7(GNE):c.*2453C>A rs1163596916 0.00001
NM_005476.7(GNE):c.*2550G>A rs191345940 0.00001
NM_005476.7(GNE):c.*2709T>C rs1390610132 0.00001
NM_005476.7(GNE):c.*513G>A rs886063923 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.530G>A (p.Arg177His) rs772597073 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_006790.3(MYOT):c.*167A>G rs886059969 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) rs770515990 0.00001
NM_006790.3(MYOT):c.191T>A (p.Met64Lys) rs763147610 0.00001
NM_007078.3(LDB3):c.30C>G (p.Pro10=) rs766817285 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007078.3(LDB3):c.897-6719C>T rs975012427 0.00001
NM_007078.3(LDB3):c.897-6861G>A rs1458669091 0.00001
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372 0.00001
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) rs201727252 0.00001
NM_007103.4(NDUFV1):c.1308+7A>T rs767679135 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121 0.00001
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589 0.00001
NM_007126.5(VCP):c.*184G>A rs886063889 0.00001
NM_007126.5(VCP):c.*885G>A rs925146670 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 0.00001
NM_007126.5(VCP):c.446-4G>A rs370700002 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_012210.4(TRIM32):c.*112G>A rs886063380 0.00001
NM_012210.4(TRIM32):c.*283G>T rs886063381 0.00001
NM_012210.4(TRIM32):c.*676G>T rs541032542 0.00001
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val) rs746383181 0.00001
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=) rs200244154 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012210.4(TRIM32):c.1432T>G (p.Leu478Val) rs371002754 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_013382.7(POMT2):c.*1285T>C rs886050815 0.00001
NM_013382.7(POMT2):c.*1579C>A rs780717261 0.00001
NM_013382.7(POMT2):c.*2381A>G rs993351501 0.00001
NM_013382.7(POMT2):c.*316C>G rs1460121683 0.00001
NM_013382.7(POMT2):c.*597C>T rs886050820 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_014165.4(NDUFAF4):c.*1728G>A rs1775284209 0.00001
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823 0.00001
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) rs760918613 0.00001
NM_015713.5(RRM2B):c.*1522A>G rs889321989 0.00001
NM_015713.5(RRM2B):c.*1664T>A rs1810545907 0.00001
NM_015713.5(RRM2B):c.*2960G>A rs886062561 0.00001
NM_015713.5(RRM2B):c.*3125T>C rs886062560 0.00001
NM_015713.5(RRM2B):c.*3289A>G rs569359604 0.00001
NM_015713.5(RRM2B):c.-1G>C rs1437655477 0.00001
NM_015713.5(RRM2B):c.162A>G (p.Lys54=) rs746927643 0.00001
NM_015713.5(RRM2B):c.503A>G (p.Lys168Arg) rs886062571 0.00001
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu) rs1406147170 0.00001
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys) rs759057658 0.00001
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=) rs764849578 0.00001
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser) rs759432475 0.00001
NM_017534.6(MYH2):c.*131T>C rs1407636374 0.00001
NM_017534.6(MYH2):c.1251C>A (p.Gly417=) rs746987085 0.00001
NM_017534.6(MYH2):c.2305-11T>G rs369500791 0.00001
NM_017534.6(MYH2):c.2468A>G (p.Asn823Ser) rs1378547305 0.00001
NM_017534.6(MYH2):c.3263+11A>G rs890845570 0.00001
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys) rs756255059 0.00001
NM_017534.6(MYH2):c.3567A>G (p.Leu1189=) rs886052565 0.00001
NM_017534.6(MYH2):c.3839C>T (p.Thr1280Ile) rs886052564 0.00001
NM_017534.6(MYH2):c.4158C>A (p.Ile1386=) rs778626880 0.00001
NM_017534.6(MYH2):c.5294T>A (p.Ile1765Asn) rs139621607 0.00001
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg) rs1204821136 0.00001
NM_017534.6(MYH2):c.688C>T (p.Leu230=) rs375063863 0.00001
NM_017547.4(FOXRED1):c.*211T>C rs1245337651 0.00001
NM_017547.4(FOXRED1):c.*392G>A rs886047983 0.00001
NM_017547.4(FOXRED1):c.*85T>C rs372575072 0.00001
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser) rs1036245067 0.00001
NM_017547.4(FOXRED1):c.307-14T>C rs541684918 0.00001
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp) rs140745629 0.00001
NM_017547.4(FOXRED1):c.537-11G>A rs199599636 0.00001
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680 0.00001
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) rs886047982 0.00001
NM_017641.3(KIF21A):c.-245C>T rs886049350 0.00001
NM_017641.3(KIF21A):c.-392G>C rs886049354 0.00001
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_018834.6(MATR3):c.*1111T>C rs772678059 0.00001
NM_018834.6(MATR3):c.*1891T>G rs886060001 0.00001
NM_018834.6(MATR3):c.*2142G>A rs1561950387 0.00001
NM_018834.6(MATR3):c.*493T>C rs972728364 0.00001
NM_018834.6(MATR3):c.*60A>G rs886059993 0.00001
NM_018834.6(MATR3):c.*770A>G rs886059996 0.00001
NM_018834.6(MATR3):c.-5C>G rs375381025 0.00001
NM_018834.6(MATR3):c.1179A>G (p.Arg393=) rs747566193 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.305G>A (p.Arg102His) rs886059988 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_021074.4(NDUFV2):c.-98G>T rs886054123 0.00001
NM_021074.5(NDUFV2):c.*57C>T rs977177603 0.00001
NM_021074.5(NDUFV2):c.120+1G>C rs749991624 0.00001
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter) rs771236417 0.00001
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=) rs547252886 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_024407.5(NDUFS7):c.*8G>A rs756081375 0.00001
NM_024407.5(NDUFS7):c.*94G>A rs1329105128 0.00001
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388 0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) rs1193585808 0.00001
NM_025152.2(NUBPL):c.-39G>A rs886050446 0.00001
NM_025152.3(NUBPL):c.*135T>G rs377738028 0.00001
NM_025152.3(NUBPL):c.*1963C>A rs1164142579 0.00001
NM_025152.3(NUBPL):c.*527G>A rs560274677 0.00001
NM_025152.3(NUBPL):c.*638C>G rs886050454 0.00001
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) rs886050450 0.00001
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) rs886050447 0.00001
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) rs765747555 0.00001
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110 0.00001
NM_025215.5(PUS1):c.-457G>C rs1033621386 0.00001
NM_025215.6(PUS1):c.*192T>C rs930371689 0.00001
NM_025215.6(PUS1):c.-80G>A rs1215451501 0.00001
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093 0.00001
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg) rs545204877 0.00001
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996 0.00001
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092 0.00001
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys) rs573837941 0.00001
NM_058246.4(DNAJB6):c.*1008G>A rs928224062 0.00001
NM_058246.4(DNAJB6):c.*502A>G rs1379188183 0.00001
NM_058246.4(DNAJB6):c.562T>C (p.Phe188Leu) rs886062128 0.00001
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=) rs886062129 0.00001
NM_133642.5(LARGE1):c.*1229G>A rs918504034 0.00001
NM_133642.5(LARGE1):c.-34G>A rs759430272 0.00001
NM_133642.5(LARGE1):c.-359C>G rs886057468 0.00001
NM_133642.5(LARGE1):c.-500T>C rs968923312 0.00001
NM_133642.5(LARGE1):c.-527C>T rs956387343 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) rs752854659 0.00001
NM_133642.5(LARGE1):c.230G>A (p.Arg77His) rs1402888044 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.506A>G (p.His169Arg) rs886057461 0.00001
NM_138638.5(CFL2):c.*1070G>A rs767101584 0.00001
NM_138638.5(CFL2):c.*2248G>A rs1315039573 0.00001
NM_138638.5(CFL2):c.4-172C>T rs190226324 0.00001
NM_139343.2(BIN1):c.-272G>A rs886054842 0.00001
NM_139343.3(BIN1):c.*243T>G rs886054831 0.00001
NM_139343.3(BIN1):c.*413G>A rs886054829 0.00001
NM_139343.3(BIN1):c.*449G>A rs369704619 0.00001
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) rs1405949552 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) rs1468092156 0.00001
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) rs886054834 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.330G>A (p.Leu110=) rs746946704 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_152263.4(TPM3):c.*1097C>T rs886045310 0.00001
NM_152263.4(TPM3):c.*1152C>T rs535068015 0.00001
NM_152263.4(TPM3):c.*1521G>T rs949522786 0.00001
NM_152263.4(TPM3):c.*1652G>A rs543538969 0.00001
NM_152263.4(TPM3):c.*2053G>C rs969372773 0.00001
NM_152263.4(TPM3):c.*2116T>C rs886045307 0.00001
NM_152263.4(TPM3):c.*2240C>T rs561949016 0.00001
NM_152263.4(TPM3):c.*254G>A rs1286827899 0.00001
NM_152263.4(TPM3):c.*2630T>A rs767983989 0.00001
NM_152263.4(TPM3):c.*283G>C rs886045316 0.00001
NM_152263.4(TPM3):c.*312A>G rs1251165733 0.00001
NM_152263.4(TPM3):c.*4287A>G rs1383649289 0.00001
NM_152263.4(TPM3):c.*4525G>T rs886045295 0.00001
NM_152263.4(TPM3):c.*46C>T rs777118586 0.00001
NM_152263.4(TPM3):c.*4872A>G rs1660550689 0.00001
NM_152263.4(TPM3):c.*5437G>A rs929840818 0.00001
NM_152263.4(TPM3):c.*5901G>C rs1287850337 0.00001
NM_152263.4(TPM3):c.*88G>T rs1306456266 0.00001
NM_152263.4(TPM3):c.567-4A>C rs199517163 0.00001
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) rs766751249 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) rs773988847 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962 0.00001
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser) rs1192917919 0.00001
NM_182914.3(SYNE2):c.*372T>C rs964393717 0.00001
NM_182914.3(SYNE2):c.*489C>A rs886050607 0.00001
NM_182914.3(SYNE2):c.*734T>A rs886050610 0.00001
NM_182914.3(SYNE2):c.-107G>A rs886050577 0.00001
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser) rs886285721 0.00001
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg) rs759503520 0.00001
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg) rs745526712 0.00001
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys) rs779441612 0.00001
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys) rs759668362 0.00001
NM_182914.3(SYNE2):c.12739G>A (p.Glu4247Lys) rs886050590 0.00001
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn) rs375241792 0.00001
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe) rs368105920 0.00001
NM_182914.3(SYNE2):c.14110G>T (p.Ala4704Ser) rs886050592 0.00001
NM_182914.3(SYNE2):c.16184G>A (p.Gly5395Asp) rs775698210 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=) rs1450190172 0.00001
NM_182914.3(SYNE2):c.17431-3T>C rs886050595 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala) rs759557576 0.00001
NM_182914.3(SYNE2):c.20245A>T (p.Ile6749Phe) rs886050599 0.00001
NM_182914.3(SYNE2):c.20303A>C (p.Lys6768Thr) rs775768707 0.00001
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg) rs751565440 0.00001
NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro) rs763134759 0.00001
NM_182914.3(SYNE2):c.2314-9T>C rs1351046607 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro) rs2096727951 0.00001
NM_182914.3(SYNE2):c.3550G>A (p.Val1184Met) rs377084463 0.00001
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val) rs755316066 0.00001
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg) rs374305796 0.00001
NM_182914.3(SYNE2):c.5284G>A (p.Gly1762Arg) rs754809587 0.00001
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln) rs765830189 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His) rs772510663 0.00001
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=) rs374756957 0.00001
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr) rs780736831 0.00001
NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837 0.00001
NM_182961.4(SYNE1):c.*138A>G rs2051574407 0.00001
NM_182961.4(SYNE1):c.*166G>A rs958754447 0.00001
NM_182961.4(SYNE1):c.*181C>T rs150886628 0.00001
NM_182961.4(SYNE1):c.*368T>C rs927168592 0.00001
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile) rs886043016 0.00001
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769 0.00001
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr) rs2098931321 0.00001
NM_182961.4(SYNE1):c.1176G>A (p.Val392=) rs776130961 0.00001
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr) rs750676780 0.00001
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=) rs780437149 0.00001
NM_182961.4(SYNE1):c.15917+9G>A rs779265988 0.00001
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln) rs1233067296 0.00001
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357 0.00001
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu) rs749718460 0.00001
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=) rs775672135 0.00001
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe) rs760237153 0.00001
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568 0.00001
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961 0.00001
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln) rs777435137 0.00001
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His) rs778080338 0.00001
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser) rs756645782 0.00001
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His) rs886061213 0.00001
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr) rs775729666 0.00001
NM_182961.4(SYNE1):c.7030-4G>C rs112853992 0.00001
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys) rs886061209 0.00001
NM_182961.4(SYNE1):c.8004+5A>G rs746589347 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) rs759189660 0.00001
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671 0.00001
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668 0.00001
NM_213599.3(ANO5):c.*1248A>G rs886048132 0.00001
NM_213599.3(ANO5):c.*1647T>C rs886048133 0.00001
NM_213599.3(ANO5):c.*185A>G rs774589940 0.00001
NM_213599.3(ANO5):c.*3196A>G rs886048142 0.00001
NM_213599.3(ANO5):c.*3206A>G rs886048143 0.00001
NM_213599.3(ANO5):c.-162A>G rs61879341 0.00001
NM_213599.3(ANO5):c.-65G>C rs886048116 0.00001
NM_213599.3(ANO5):c.1548C>T (p.Leu516=) rs886042624 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_213599.3(ANO5):c.2236-5T>G rs886048122 0.00001
NM_213599.3(ANO5):c.2317A>G (p.Met773Val) rs751028884 0.00001
NM_213599.3(ANO5):c.2478G>T (p.Trp826Cys) rs886048124 0.00001
NM_213599.3(ANO5):c.567A>G (p.Ala189=) rs546565538 0.00001
NM_000036.3(AMPD1):c.382-6del rs727503806
NM_000036.3(AMPD1):c.382-6dup rs727503806
NM_000070.3(CAPN3):c.*139C>T rs1338589746
NM_000070.3(CAPN3):c.*170G>C rs886051149
NM_000070.3(CAPN3):c.*387C>T rs2054279990
NM_000070.3(CAPN3):c.*436del rs774244796
NM_000070.3(CAPN3):c.*482_*485dup rs780202767
NM_000070.3(CAPN3):c.-96A>T rs2052587591
NM_000070.3(CAPN3):c.1002C>T (p.His334=) rs374833797
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1301_1304del (p.Asn434fs) rs1566979465
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=) rs2054086848
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2115T>C (p.Asp705=) rs2054158589
NM_000070.3(CAPN3):c.2236G>C (p.Glu746Gln) rs752155690
NM_000070.3(CAPN3):c.337A>G (p.Ile113Val) rs2053334758
NM_000070.3(CAPN3):c.451C>G (p.His151Asp) rs886051148
NM_000070.3(CAPN3):c.526G>A (p.Val176Met) rs774114705
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.618G>A (p.Glu206=) rs541597520
NM_000070.3(CAPN3):c.809C>T (p.Thr270Met) rs1219356790
NM_000083.3(CLCN1):c.1251+11G>T rs780748786
NM_000083.3(CLCN1):c.1251+14G>A rs1027351084
NM_000083.3(CLCN1):c.1254G>C (p.Leu418Phe) rs1472138354
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) rs886062032
NM_000083.3(CLCN1):c.1796+2_1796+6del rs1563084796
NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg) rs886062035
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) rs200385034
NM_000083.3(CLCN1):c.2192dup (p.His732fs) rs1563087702
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) rs1803241372
NM_000083.3(CLCN1):c.2615G>A (p.Gly872Glu) rs1803406966
NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys) rs886062036
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.563-13T>G rs1802439916
NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu) rs886062031
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000183.3(HADHB):c.*241T>G rs886055867
NM_000183.3(HADHB):c.*244T>G rs886055868
NM_000183.3(HADHB):c.*268G>A rs886055869
NM_000183.3(HADHB):c.*380A>G rs886055870
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu) rs777680722
NM_000231.3(SGCG):c.*474AAGT[3] rs886050066
NM_000231.3(SGCG):c.*571_*576del rs886050067
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.1138+7G>A rs886050423
NM_000257.4(MYH7):c.1671G>T (p.Leu557=) rs149386750
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2424-7C>T rs759141144
NM_000257.4(MYH7):c.2877G>A (p.Leu959=) rs886039162
NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) rs886050421
NM_000257.4(MYH7):c.2955G>A (p.Leu985=) rs886050420
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=) rs747004925
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=) rs730880767
NM_000257.4(MYH7):c.3558G>A (p.Glu1186=) rs1415340981
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=) rs137918672
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4169+6T>G rs886050417
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln) rs370069461
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) rs730880810
NM_000257.4(MYH7):c.4953+6C>A rs1892187663
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly) rs1892168471
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) rs886050416
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp) rs146796870
NM_000257.4(MYH7):c.5793C>T (p.Gly1931=) rs148420672
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu) rs779190577
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1497C>T rs1908443762
NM_000334.4(SCN4A):c.*1505G>T rs1908443410
NM_000334.4(SCN4A):c.*1599A>G rs1908440330
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*203T>G rs1908484940
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.-67G>A rs191783461
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg) rs753391449
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=) rs1597971116
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn) rs1909633732
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) rs1909617747
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile) rs1908500124
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000540.3(RYR1):c.-61A>C rs1192726936
NM_000540.3(RYR1):c.-65G>C rs1204515719
NM_000540.3(RYR1):c.-69T>C rs886054377
NM_000540.3(RYR1):c.-70dup rs886054376
NM_000540.3(RYR1):c.-74A>C rs886054375
NM_000540.3(RYR1):c.-81dup rs886054374
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10466C>G (p.Ser3489Trp) rs764263987
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=) rs1971495978
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.3(RYR1):c.10824+13G>A rs756468318
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His) rs747528384
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys) rs781379239
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg) rs1971614117
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=) rs886054401
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr) rs764309886
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly) rs1972296147
NM_000540.3(RYR1):c.11907+8G>A rs886054402
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=) rs571477269
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys) rs1973119741
NM_000540.3(RYR1):c.125G>A (p.Gly42Asp) rs1972639264
NM_000540.3(RYR1):c.12619C>A (p.Pro4207Thr) rs886054403
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=) rs886054405
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=) rs758223017
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala) rs1973361809
NM_000540.3(RYR1):c.13128G>A (p.Val4376=) rs886054406
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=) rs543458339
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.3(RYR1):c.13352C>A (p.Ala4451Asp) rs886054408
NM_000540.3(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup) rs886054409
NM_000540.3(RYR1):c.13437+14C>A rs771599721
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=) rs886054410
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser) rs371441593
NM_000540.3(RYR1):c.14288C>A (p.Pro4763Gln) rs1974035851
NM_000540.3(RYR1):c.1440+13C>T rs774459267
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr) rs886054412
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr) rs886054380
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala) rs1183569355
NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu) rs1225931762
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3773G>T (p.Arg1258Leu) rs886054381
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly) rs1425575552
NM_000540.3(RYR1):c.4160+8G>T rs886054383
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=) rs886054385
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4322G>T (p.Gly1441Val) rs1968805897
NM_000540.3(RYR1):c.4342T>C (p.Trp1448Arg) rs886054386
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) rs1182258955
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=) rs886054388
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) rs377476955
NM_000540.3(RYR1):c.537+12C>A rs779869638
NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met) rs886054389
NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro) rs886054390
NM_000540.3(RYR1):c.5584A>C (p.Ile1862Leu) rs886054391
NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp) rs1043076830
NM_000540.3(RYR1):c.5620G>A (p.Glu1874Lys) rs1969440508
NM_000540.3(RYR1):c.5910G>A (p.Gln1970=) rs1555780327
NM_000540.3(RYR1):c.5G>C (p.Gly2Ala) rs886054378
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6082C>G (p.Arg2028Gly) rs773540275
NM_000540.3(RYR1):c.6128-13T>G rs1969594703
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys) rs587784378
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly) rs193922791
NM_000540.3(RYR1):c.663C>T (p.Leu221=) rs761319979
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val) rs886054393
NM_000540.3(RYR1):c.7028-11C>G rs369342449
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=) rs748167551
NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp) rs886054394
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=) rs573431795
NM_000540.3(RYR1):c.7684A>G (p.Ile2562Val) rs1359576805
NM_000540.3(RYR1):c.76A>C (p.Thr26Pro) rs1972635177
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=) rs1477392994
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser) rs193922824
NM_000540.3(RYR1):c.7836-3C>T rs1345584460
NM_000540.3(RYR1):c.7836-6C>T rs780269941
NM_000540.3(RYR1):c.7874G>T (p.Arg2625Leu) rs751301767
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=) rs148907377
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu) rs150620191
NM_000540.3(RYR1):c.8042G>C (p.Gly2681Ala) rs1970341837
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys) rs1970446266
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp) rs1234488220
NM_000540.3(RYR1):c.874C>T (p.Leu292Phe) rs1966901541
NM_000540.3(RYR1):c.8901G>A (p.Met2967Ile) rs1970544424
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=) rs1568524980
NM_000540.3(RYR1):c.9581T>C (p.Leu3194Pro) rs1970955432
NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=) rs1971019633
NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys) rs557030813
NM_000540.3(RYR1):c.9846C>T (p.Pro3282=) rs886054399
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.-122G>A rs886054139
NM_001005361.3(DNM2):c.-19G>T rs753599004
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_001025389.2(AMPD3):c.*1181dup rs765400983
NM_001025389.2(AMPD3):c.*121del rs886047589
NM_001025389.2(AMPD3):c.*1297T>C rs886047592
NM_001025389.2(AMPD3):c.*1381C>T rs1207427717
NM_001025389.2(AMPD3):c.*1672TAAA[1] rs752754496
NM_001025389.2(AMPD3):c.*1681T>C rs551737295
NM_001025389.2(AMPD3):c.*603G>A rs1849717914
NM_001025389.2(AMPD3):c.-48_-43del rs547362583
NM_001025389.2(AMPD3):c.-5-6T>G rs540683532
NM_001025389.2(AMPD3):c.-9G>A rs779381507
NM_001025389.2(AMPD3):c.1135-5C>A rs202231572
NM_001025389.2(AMPD3):c.1135-5C>T rs202231572
NM_001025389.2(AMPD3):c.1135-6C>G rs180912663
NM_001025389.2(AMPD3):c.1276C>T (p.Arg426Trp) rs143114453
NM_001025389.2(AMPD3):c.1317G>T (p.Arg439=) rs370322247
NM_001025389.2(AMPD3):c.1388A>T (p.Tyr463Phe) rs766302802
NM_001025389.2(AMPD3):c.1516A>G (p.Asn506Asp) rs886047588
NM_001025389.2(AMPD3):c.1549C>G (p.Leu517Val) rs1849421091
NM_001025389.2(AMPD3):c.1709A>G (p.Asn570Ser) rs1849538120
NM_001025389.2(AMPD3):c.1891A>C (p.Met631Leu) rs1007093143
NM_001025389.2(AMPD3):c.1982C>T (p.Ser661Phe) rs1849617242
NM_001025389.2(AMPD3):c.2101G>T (p.Val701Leu) rs764421503
NM_001025389.2(AMPD3):c.271C>T (p.Pro91Ser) rs201551496
NM_001025389.2(AMPD3):c.325A>G (p.Thr109Ala) rs774974291
NM_001025389.2(AMPD3):c.353C>T (p.Ser118Phe) rs758624728
NM_001025389.2(AMPD3):c.56T>C (p.Leu19Pro) rs1848271993
NM_001025389.2(AMPD3):c.702C>T (p.Asn234=) rs987924771
NM_001025389.2(AMPD3):c.81A>C (p.Lys27Asn) rs933731212
NM_001025389.2(AMPD3):c.931G>A (p.Val311Met) rs117706710
NM_001025389.2(AMPD3):c.981G>T (p.Lys327Asn) rs555477655
NM_001040436.2(YARS2):c.-31A>G rs557243101
NM_001040436.3(YARS2):c.*377G>A rs1955646004
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.1104-16dup rs761612441
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001042631.3(SDHAF1):c.*248C>T rs552373950
NM_001042631.3(SDHAF1):c.*323C>G rs757546678
NM_001042631.3(SDHAF1):c.*66G>A rs1976659752
NM_001042631.3(SDHAF1):c.3G>A (p.Met1Ile) rs1976651034
NM_001042631.3(SDHAF1):c.49G>A (p.Asp17Asn) rs538225779
NM_001077365.2(POMT1):c.*330G>A rs556148765
NM_001077365.2(POMT1):c.*370C>G rs1950358020
NM_001077365.2(POMT1):c.*381G>A rs57955153
NM_001077365.2(POMT1):c.-83C>T rs550740786
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=) rs766759606
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser) rs1948110753
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=) rs1949210371
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala) rs1945225387
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001079802.2(FKTN):c.*2516G>T rs886063331
NM_001079802.2(FKTN):c.*2640G>C rs556673268
NM_001079802.2(FKTN):c.*2674A>G rs1834156242
NM_001079802.2(FKTN):c.*2902C>T rs1834171760
NM_001079802.2(FKTN):c.*2904G>A rs138806979
NM_001079802.2(FKTN):c.*3046T>C rs886063333
NM_001079802.2(FKTN):c.*3156A>T rs886063334
NM_001079802.2(FKTN):c.*3312T>G rs1343215418
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*3985C>T rs1293866364
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*436C>T rs886063322
NM_001079802.2(FKTN):c.*4646A>G rs1834308173
NM_001079802.2(FKTN):c.*4705G>A rs1834312188
NM_001079802.2(FKTN):c.*4826A>G rs1834318656
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.910+7T>G rs1830641729
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001100.4(ACTA1):c.-66_-65delinsTC rs386640096
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) rs886046075
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.129+14T>C rs886046076
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) rs1571893385
NM_001100.4(ACTA1):c.661G>T (p.Val221Leu)
NM_001100.4(ACTA1):c.809-13_809-12dup rs201427429
NM_001100.4(ACTA1):c.81C>T (p.Asp27=) rs1553255533
NM_001100.4(ACTA1):c.966G>A (p.Leu322=) rs765996798
NM_001101362.3(KBTBD13):c.*1306T>G rs541447859
NM_001101362.3(KBTBD13):c.*1323A>T rs992471402
NM_001101362.3(KBTBD13):c.*1514T>C rs189406063
NM_001101362.3(KBTBD13):c.*33C>T rs886051336
NM_001101362.3(KBTBD13):c.*71C>T rs886051337
NM_001101362.3(KBTBD13):c.*846G>C rs17804968
NM_001101362.3(KBTBD13):c.1048C>G (p.Arg350Gly) rs779744493
NM_001101362.3(KBTBD13):c.1139C>T (p.Thr380Met) rs769627742
NM_001101362.3(KBTBD13):c.1175C>T (p.Ala392Val) rs1296754906
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) rs760134475
NM_001101362.3(KBTBD13):c.485C>A (p.Thr162Lys) rs1269389678
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.3(KBTBD13):c.924C>T (p.Phe308=) rs886051335
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001130987.2(DYSF):c.*245T>C rs886056285
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3927+10G>A rs886056282
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001135254.2(PAX7):c.1402+91T>G rs2089708295
NM_001151.4(SLC25A4):c.*1378A>G rs868358526
NM_001151.4(SLC25A4):c.*2150G>T rs894890311
NM_001151.4(SLC25A4):c.*2363G>A rs753110221
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*2499G>T rs1579212062
NM_001151.4(SLC25A4):c.*2510T>C rs1579212069
NM_001151.4(SLC25A4):c.*2713G>A rs886059275
NM_001151.4(SLC25A4):c.*2720G>A rs559222593
NM_001151.4(SLC25A4):c.*2802C>T rs1031240359
NM_001151.4(SLC25A4):c.*424A>G rs886059269
NM_001151.4(SLC25A4):c.*482G>C rs1734462158
NM_001151.4(SLC25A4):c.*571T>G rs370688019
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) rs886059266
NM_001164507.2(NEB):c.21316A>G (p.Lys7106Glu) rs2092606329
NM_001164508.2(NEB):c.*316C>T rs2049611427
NM_001164508.2(NEB):c.1106A>G (p.Asn369Ser) rs2099709000
NM_001164508.2(NEB):c.11164C>A (p.Arg3722=) rs928945364
NM_001164508.2(NEB):c.11479G>A (p.Ala3827Thr) rs1404351594
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile) rs542092706
NM_001164508.2(NEB):c.11602-13A>T rs886054941
NM_001164508.2(NEB):c.11615C>G (p.Ser3872Cys) rs886054940
NM_001164508.2(NEB):c.11889T>A (p.Ser3963Arg) rs773708904
NM_001164508.2(NEB):c.12018+8C>G rs2097909628
NM_001164508.2(NEB):c.12103G>A (p.Ala4035Thr) rs2097889020
NM_001164508.2(NEB):c.1227C>G (p.Leu409=) rs371658494
NM_001164508.2(NEB):c.1404A>G (p.Lys468=) rs2099602836
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001164508.2(NEB):c.17180G>C (p.Arg5727Thr) rs533494950
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=) rs886054938
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18579+11C>T rs567282220
NM_001164508.2(NEB):c.18579+15T>C rs2096234308
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001164508.2(NEB):c.19162G>A (p.Val6388Met) rs2096008692
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001164508.2(NEB):c.19428+8C>A rs773614835
NM_001164508.2(NEB):c.19593T>C (p.Asp6531=) rs886054935
NM_001164508.2(NEB):c.19686T>G (p.Thr6562=) rs886054934
NM_001164508.2(NEB):c.19739A>G (p.Tyr6580Cys) rs2095414762
NM_001164508.2(NEB):c.19919T>G (p.Leu6640Arg) rs886054932
NM_001164508.2(NEB):c.20578-6G>A rs376710012
NM_001164508.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001164508.2(NEB):c.21221A>G (p.Glu7074Gly) rs1190090108
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=) rs2090436424
NM_001164508.2(NEB):c.21973G>A (p.Glu7325Lys) rs747662624
NM_001164508.2(NEB):c.22273-5T>C rs886054929
NM_001164508.2(NEB):c.22591-3C>T rs778824203
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=) rs778662915
NM_001164508.2(NEB):c.2272C>A (p.Leu758Met) rs866369010
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.24919C>A (p.Pro8307Thr) rs886054927
NM_001164508.2(NEB):c.25258T>C (p.Ser8420Pro) rs886054925
NM_001164508.2(NEB):c.25573A>G (p.Ile8525Val) rs2049766133
NM_001164508.2(NEB):c.2957A>G (p.Gln986Arg) rs781465553
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val) rs371710158
NM_001164508.2(NEB):c.3424G>A (p.Asp1142Asn) rs747102490
NM_001164508.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001164508.2(NEB):c.3815A>G (p.Tyr1272Cys) rs925465070
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.5029G>A (p.Asp1677Asn) rs778722719
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001164508.2(NEB):c.5332A>T (p.Thr1778Ser) rs2099190635
NM_001164508.2(NEB):c.5395A>C (p.Arg1799=) rs2099187669
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.585C>G (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001164508.2(NEB):c.7537-3C>A rs886054946
NM_001164508.2(NEB):c.7645-14T>C rs886054945
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001164508.2(NEB):c.7956+4A>G rs886054944
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu) rs549227905
NM_001164508.2(NEB):c.8101A>G (p.Ser2701Gly) rs2098908042
NM_001164508.2(NEB):c.8335A>T (p.Ile2779Phe) rs114853127
NM_001164508.2(NEB):c.8660G>A (p.Arg2887Gln) rs781688981
NM_001164508.2(NEB):c.8682C>A (p.Ser2894Arg) rs373799650
NM_001164508.2(NEB):c.8753T>G (p.Val2918Gly) rs2098827193
NM_001164508.2(NEB):c.8796C>A (p.Ile2932=) rs886054943
NM_001173464.2(KIF21A):c.*1010T>C rs886049332
NM_001173464.2(KIF21A):c.*1022A>T rs886049331
NM_001173464.2(KIF21A):c.*1157A>T rs886049330
NM_001173464.2(KIF21A):c.*211C>G rs886049338
NM_001173464.2(KIF21A):c.*366C>T rs1942069691
NM_001173464.2(KIF21A):c.*690T>C rs886049336
NM_001173464.2(KIF21A):c.*690dup rs34373131
NM_001173464.2(KIF21A):c.*845dup rs886049334
NM_001173464.2(KIF21A):c.*935A>G rs886049333
NM_001173464.2(KIF21A):c.-41G>A rs886049346
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) rs375541289
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr) rs886049345
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) rs1947443550
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) rs1227646139
NM_001173464.2(KIF21A):c.2418+2T>C rs1565839016
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe) rs779688115
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) rs764601859
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=) rs148166854
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) rs886049343
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile) rs1946526630
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) rs1316892081
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) rs886049342
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) rs1565724893
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) rs1565724702
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) rs1944493997
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) rs886049341
NM_001173464.2(KIF21A):c.44+15C>G rs1478935702
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) rs886049340
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) rs1942967439
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) rs373406994
NM_001256545.2(MEGF10):c.*1375A>G rs1212226492
NM_001256545.2(MEGF10):c.*1746T>G rs886059870
NM_001256545.2(MEGF10):c.*1866C>T rs886059871
NM_001256545.2(MEGF10):c.*186C>A rs765310112
NM_001256545.2(MEGF10):c.*2002A>T rs191111952
NM_001256545.2(MEGF10):c.*2113A>G rs183376722
NM_001256545.2(MEGF10):c.*2555A>G rs886059873
NM_001256545.2(MEGF10):c.*2852T>C rs997154382
NM_001256545.2(MEGF10):c.*2868G>A rs1332548047
NM_001256545.2(MEGF10):c.*2911T>G rs182225709
NM_001256545.2(MEGF10):c.*2972T>C rs886059874
NM_001256545.2(MEGF10):c.*3238A>C rs1580899331
NM_001256545.2(MEGF10):c.*3313T>C rs886059875
NM_001256545.2(MEGF10):c.*3461A>G rs886059876
NM_001256545.2(MEGF10):c.*3614C>T rs1414203140
NM_001256545.2(MEGF10):c.*3669C>A rs886059879
NM_001256545.2(MEGF10):c.*3865T>C rs1766546392
NM_001256545.2(MEGF10):c.*3868G>A rs886059881
NM_001256545.2(MEGF10):c.*551G>A rs1025283407
NM_001256545.2(MEGF10):c.-197T>C rs886059860
NM_001256545.2(MEGF10):c.-96A>C rs886059861
NM_001256545.2(MEGF10):c.1128T>A (p.His376Gln) rs539382353
NM_001256545.2(MEGF10):c.117-13C>G rs965709177
NM_001256545.2(MEGF10):c.1433A>T (p.His478Leu) rs1764932467
NM_001256545.2(MEGF10):c.1517C>G (p.Ala506Gly) rs1764939557
NM_001256545.2(MEGF10):c.1673G>A (p.Arg558His) rs182243856
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu) rs182243856
NM_001256545.2(MEGF10):c.1727G>A (p.Arg576His) rs201832505
NM_001256545.2(MEGF10):c.2284C>A (p.Gln762Lys) rs886059864
NM_001256545.2(MEGF10):c.2424C>T (p.Ser808=) rs1765815351
NM_001256545.2(MEGF10):c.2762A>G (p.Asn921Ser) rs79861077
NM_001256545.2(MEGF10):c.2810C>T (p.Ala937Val) rs886059865
NM_001256545.2(MEGF10):c.3241G>A (p.Val1081Met) rs202070491
NM_001256545.2(MEGF10):c.451C>G (p.Arg151Gly) rs767672691
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His) rs377547826
NM_001256545.2(MEGF10):c.755A>G (p.Glu252Gly) rs779137178
NM_001256545.2(MEGF10):c.954T>C (p.Val318=) rs1580833127
NM_001257988.1(TYMP):c.-185C>G rs886057637
NM_001267550.2(TTN):c.*274G>A rs886055215
NM_001267550.2(TTN):c.*913C>A rs886055213
NM_001267550.2(TTN):c.-225G>A rs886055312
NM_001267550.2(TTN):c.-38T>G rs886055309
NM_001267550.2(TTN):c.-76A>G rs1575064539
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) rs886055226
NM_001267550.2(TTN):c.101068C>A (p.Pro33690Thr) rs886055225
NM_001267550.2(TTN):c.10115-6T>C rs886055298
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn) rs375002174
NM_001267550.2(TTN):c.10255A>G (p.Ser3419Gly) rs1266502582
NM_001267550.2(TTN):c.102705T>C (p.Tyr34235=) rs1690297479
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) rs771366227
NM_001267550.2(TTN):c.104072T>C (p.Phe34691Ser) rs886055223
NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp) rs376634193
NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys) rs886055221
NM_001267550.2(TTN):c.105326T>C (p.Leu35109Ser) rs1689008949
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp) rs372875128
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys) rs878913505
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val) rs370476812
NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr) rs886055220
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp) rs886055219
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys) rs886055218
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys) rs886055217
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp) rs886042500
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=) rs762859509
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.1224T>C (p.Ala408=) rs2093688642
NM_001267550.2(TTN):c.1301A>T (p.Asp434Val) rs1478114976
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14153A>G (p.Lys4718Arg) rs753558755
NM_001267550.2(TTN):c.14392C>T (p.Leu4798Phe) rs2081388048
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala) rs201744218
NM_001267550.2(TTN):c.14860G>C (p.Asp4954His) rs1443901302
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15497-4C>G rs2080975329
NM_001267550.2(TTN):c.15942T>C (p.Asn5314=) rs1311178060
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=) rs772821743
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=) rs886055297
NM_001267550.2(TTN):c.16776G>A (p.Met5592Ile) rs879188937
NM_001267550.2(TTN):c.1683A>G (p.Ile561Met) rs1321890564
NM_001267550.2(TTN):c.1688C>T (p.Ala563Val) rs2093449486
NM_001267550.2(TTN):c.1696A>G (p.Met566Val) rs987302368
NM_001267550.2(TTN):c.17364C>T (p.Tyr5788=) rs2080475152
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg) rs572678771
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro) rs2080087332
NM_001267550.2(TTN):c.18472G>A (p.Asp6158Asn) rs2080068286
NM_001267550.2(TTN):c.18493A>G (p.Ile6165Val) rs886055296
NM_001267550.2(TTN):c.18690C>T (p.Val6230=) rs754536598
NM_001267550.2(TTN):c.1923A>C (p.Gln641His) rs886055308
NM_001267550.2(TTN):c.19370T>C (p.Phe6457Ser) rs2079785463
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr) rs886055295
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn) rs369993514
NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr) rs786205314
NM_001267550.2(TTN):c.22528+12C>T rs756012779
NM_001267550.2(TTN):c.22659G>A (p.Lys7553=) rs2078449618
NM_001267550.2(TTN):c.22696G>A (p.Val7566Met) rs2078438102
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23147G>T (p.Gly7716Val) rs751284978
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.23601A>G (p.Ile7867Met) rs1334032406
NM_001267550.2(TTN):c.23654T>C (p.Val7885Ala) rs2078098721
NM_001267550.2(TTN):c.24528A>G (p.Arg8176=) rs1162009739
NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro) rs2077698375
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys) rs750195208
NM_001267550.2(TTN):c.25521A>G (p.Val8507=) rs886055293
NM_001267550.2(TTN):c.26012C>T (p.Pro8671Leu) rs2077292301
NM_001267550.2(TTN):c.26597A>G (p.Asp8866Gly) rs2077094217
NM_001267550.2(TTN):c.26618A>G (p.Asp8873Gly) rs776032171
NM_001267550.2(TTN):c.26656G>A (p.Gly8886Ser) rs72648991
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr) rs886055307
NM_001267550.2(TTN):c.28317T>C (p.Ser9439=) rs886055290
NM_001267550.2(TTN):c.28353C>G (p.Ser9451Arg) rs777096848
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser) rs4893852
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=) rs1560529237
NM_001267550.2(TTN):c.29786A>G (p.Glu9929Gly) rs1340062320
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=) rs764333790
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.30803-14T>C rs2073693398
NM_001267550.2(TTN):c.30978A>G (p.Val10326=) rs2073654294
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31348+14C>T rs2073303724
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp) rs374555701
NM_001267550.2(TTN):c.31548G>A (p.Glu10516=) rs777887659
NM_001267550.2(TTN):c.3165-9T>C rs886055306
NM_001267550.2(TTN):c.31753C>G (p.Pro10585Ala) rs2154280079
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) rs768652249
NM_001267550.2(TTN):c.31857A>G (p.Val10619=) rs886055286
NM_001267550.2(TTN):c.31871T>C (p.Val10624Ala) rs2071792935
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val) rs886055305
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=) rs397517542
NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr) rs2069920810
NM_001267550.2(TTN):c.33473T>C (p.Val11158Ala) rs1441498569
NM_001267550.2(TTN):c.33754C>T (p.Pro11252Ser) rs886055283
NM_001267550.2(TTN):c.33826+7G>A rs752099208
NM_001267550.2(TTN):c.34015G>A (p.Val11339Ile) rs886055282
NM_001267550.2(TTN):c.34119G>A (p.Glu11373=) rs548399416
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34248A>C (p.Glu11416Asp) rs780920687
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser) rs556948427
NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln) rs764974634
NM_001267550.2(TTN):c.36790+5G>T rs752204534
NM_001267550.2(TTN):c.39464-15T>C rs2062964886
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.41468C>G (p.Pro13823Arg) rs2060403983
NM_001267550.2(TTN):c.41503C>T (p.Arg13835Trp) rs886055278
NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg) rs367751077
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro) rs727505144
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) rs150579194
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.43939G>C (p.Ala14647Pro) rs2059746777
NM_001267550.2(TTN):c.440C>G (p.Ser147Cys) rs2094006092
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=) rs772552324
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala) rs753926213
NM_001267550.2(TTN):c.44467A>G (p.Arg14823Gly) rs886055277
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) rs886055276
NM_001267550.2(TTN):c.44815+14T>C rs2058737403
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr) rs886055275
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=) rs185660585
NM_001267550.2(TTN):c.45725G>T (p.Arg15242Ile) rs140795503
NM_001267550.2(TTN):c.45746A>G (p.Asp15249Gly) rs2058157979
NM_001267550.2(TTN):c.45942G>T (p.Met15314Ile) rs2058108323
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=) rs886055273
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46172C>T (p.Thr15391Ile) rs775807236
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr) rs537428006
NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=) rs397517586
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=) rs780824428
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln) rs886055271
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr) rs1576492463
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) rs886055270
NM_001267550.2(TTN):c.48760+8T>C rs2057012531
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.49183A>G (p.Ser16395Gly) rs2056873203
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile) rs2056867382
NM_001267550.2(TTN):c.49436G>A (p.Gly16479Asp) rs2056796893
NM_001267550.2(TTN):c.49648+5T>C rs759948503
NM_001267550.2(TTN):c.5001T>C (p.Tyr1667=) rs540957547
NM_001267550.2(TTN):c.50355-3T>C rs1172932037
NM_001267550.2(TTN):c.5039T>A (p.Leu1680His) rs886055304
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.51672A>C (p.Ala17224=) rs755746120
NM_001267550.2(TTN):c.5176C>A (p.Leu1726Ile) rs2092262370
NM_001267550.2(TTN):c.51859G>A (p.Val17287Ile) rs1333508634
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn) rs72632861
NM_001267550.2(TTN):c.52062C>A (p.Asp17354Glu) rs886055269
NM_001267550.2(TTN):c.52428G>A (p.Lys17476=) rs886055268
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu) rs2055350149
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=) rs373140387
NM_001267550.2(TTN):c.53236G>A (p.Ala17746Thr) rs886055266
NM_001267550.2(TTN):c.53322T>G (p.Val17774=) rs886055265
NM_001267550.2(TTN):c.53881+4C>A rs187632918
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) rs531242797
NM_001267550.2(TTN):c.54263C>T (p.Ala18088Val) rs2054396232
NM_001267550.2(TTN):c.54449G>A (p.Ser18150Asn) rs886055264
NM_001267550.2(TTN):c.54469A>G (p.Lys18157Glu) rs886055263
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=) rs397517620
NM_001267550.2(TTN):c.54811+8T>C rs747409403
NM_001267550.2(TTN):c.55432+10A>G rs751062759
NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser) rs528329600
NM_001267550.2(TTN):c.55909C>T (p.Arg18637Cys) rs374151130
NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=) rs886055262
NM_001267550.2(TTN):c.56396C>T (p.Ala18799Val) rs753746652
NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=) rs886055261
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=) rs375403059
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) rs754793079
NM_001267550.2(TTN):c.58299T>A (p.Thr19433=) rs778334134
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr) rs920055688
NM_001267550.2(TTN):c.58433-15T>G rs2050786898
NM_001267550.2(TTN):c.58639G>A (p.Gly19547Arg) rs886055260
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys) rs779755661
NM_001267550.2(TTN):c.58984A>G (p.Ile19662Val) rs886055259
NM_001267550.2(TTN):c.59200C>T (p.Pro19734Ser) rs563889482
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del) rs886055257
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=) rs1215674180
NM_001267550.2(TTN):c.60811C>A (p.Pro20271Thr) rs886055256
NM_001267550.2(TTN):c.60844G>C (p.Asp20282His) rs2050065045
NM_001267550.2(TTN):c.60991A>G (p.Arg20331Gly) rs1226541281
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.6151A>G (p.Lys2051Glu) rs1393006247
NM_001267550.2(TTN):c.62165G>A (p.Ser20722Asn) rs568728579
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) rs727505316
NM_001267550.2(TTN):c.62834G>A (p.Gly20945Asp) rs2049635543
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn) rs558727238
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.64119A>C (p.Leu21373Phe) rs753245626
NM_001267550.2(TTN):c.64685C>A (p.Pro21562His) rs1213776805
NM_001267550.2(TTN):c.64965C>G (p.Phe21655Leu) rs886055255
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) rs767001973
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His) rs1447894010
NM_001267550.2(TTN):c.66565A>G (p.Ile22189Val) rs886055254
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys) rs768049902
NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser) rs781220405
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr) rs886055253
NM_001267550.2(TTN):c.67056T>C (p.Leu22352=) rs747715690
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=) rs886055302
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu) rs886055252
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) rs886055251
NM_001267550.2(TTN):c.69490G>A (p.Val23164Met) rs755341733
NM_001267550.2(TTN):c.69565G>A (p.Ala23189Thr)
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln) rs752879532
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile) rs542004766
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser) rs886055250
NM_001267550.2(TTN):c.71612T>C (p.Ile23871Thr) rs770250820
NM_001267550.2(TTN):c.71833T>C (p.Trp23945Arg) rs553796385
NM_001267550.2(TTN):c.71956G>A (p.Val23986Ile) rs754373279
NM_001267550.2(TTN):c.72149A>G (p.Glu24050Gly) rs771209223
NM_001267550.2(TTN):c.72166C>A (p.Arg24056Ser) rs372662393
NM_001267550.2(TTN):c.72497G>A (p.Ser24166Asn) rs886055248
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe) rs879004898
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=) rs756809007
NM_001267550.2(TTN):c.7368G>C (p.Val2456=) rs886055301
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=) rs886055247
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala) rs886055300
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile) rs1228257559
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=) rs1060503924
NM_001267550.2(TTN):c.74573T>C (p.Ile24858Thr) rs1708197097
NM_001267550.2(TTN):c.75255T>C (p.Asn25085=) rs1707950573
NM_001267550.2(TTN):c.75311A>T (p.Asp25104Val) rs534319705
NM_001267550.2(TTN):c.75489C>T (p.Thr25163=) rs1234238096
NM_001267550.2(TTN):c.75634G>C (p.Val25212Leu) rs1707781335
NM_001267550.2(TTN):c.75706G>A (p.Asp25236Asn) rs1707754880
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=) rs868081432
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.7705G>A (p.Asp2569Asn) rs2091797961
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.77911T>C (p.Tyr25971His) rs1432174919
NM_001267550.2(TTN):c.78193G>A (p.Val26065Met) rs1371536406
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn) rs778290450
NM_001267550.2(TTN):c.79106T>C (p.Val26369Ala) rs1706144836
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.80252C>T (p.Ala26751Val) rs912122514
NM_001267550.2(TTN):c.80484C>G (p.Ser26828Arg) rs886055243
NM_001267550.2(TTN):c.80890A>G (p.Asn26964Asp) rs886055242
NM_001267550.2(TTN):c.81017G>T (p.Ser27006Ile) rs886055241
NM_001267550.2(TTN):c.81373A>C (p.Thr27125Pro) rs1362825687
NM_001267550.2(TTN):c.81600C>G (p.Ser27200Arg) rs773107849
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala) rs753766297
NM_001267550.2(TTN):c.83192T>C (p.Leu27731Ser) rs886055238
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.83416C>G (p.Arg27806Gly) rs886055237
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) rs760755965
NM_001267550.2(TTN):c.8373C>T (p.His2791=) rs566816279
NM_001267550.2(TTN):c.84196G>A (p.Glu28066Lys) rs1703825463
NM_001267550.2(TTN):c.85243T>C (p.Leu28415=) rs1703401045
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=) rs758811159
NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met) rs886055234
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) rs763682832
NM_001267550.2(TTN):c.88047G>A (p.Lys29349=) rs748102856
NM_001267550.2(TTN):c.88774A>G (p.Ile29592Val) rs1700602244
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=) rs201241167
NM_001267550.2(TTN):c.88951A>G (p.Thr29651Ala) rs879233366
NM_001267550.2(TTN):c.89392T>A (p.Ser29798Thr) rs886055232
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala) rs201620815
NM_001267550.2(TTN):c.89716G>A (p.Asp29906Asn) rs770892973
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val) rs777636306
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn) rs774523194
NM_001267550.2(TTN):c.91316T>C (p.Ile30439Thr) rs561319486
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.91514T>C (p.Ile30505Thr) rs1699227127
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.91871T>C (p.Val30624Ala) rs886055231
NM_001267550.2(TTN):c.92336G>C (p.Arg30779Thr) rs1289817129
NM_001267550.2(TTN):c.92645C>A (p.Thr30882Lys) rs1698296911
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.94039G>C (p.Glu31347Gln) rs886055230
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=) rs1042759526
NM_001267550.2(TTN):c.94864G>A (p.Gly31622Ser) rs1385680314
NM_001267550.2(TTN):c.95163A>G (p.Thr31721=) rs376944872
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln) rs748984928
NM_001267550.2(TTN):c.95490A>G (p.Lys31830=) rs1696713042
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg) rs375368824
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96491A>G (p.Tyr32164Cys) rs886055229
NM_001267550.2(TTN):c.97045G>A (p.Glu32349Lys) rs1695237277
NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys) rs1257117887
NM_001267550.2(TTN):c.97410T>C (p.Tyr32470=) rs886055228
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu) rs1060500477
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98524G>T (p.Ala32842Ser) rs199647622
NM_001267550.2(TTN):c.98617G>A (p.Glu32873Lys) rs1575354700
NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu) rs762905152
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001289808.2(CRYAB):c.*107A>G rs886047686
NM_001289808.2(CRYAB):c.*38G>C rs781853968
NM_001289808.2(CRYAB):c.*39T>C rs782808506
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) rs1555165546
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001377299.1(NDUFS2):c.*108_*109dup rs886045468
NM_001377299.1(NDUFS2):c.*187G>A rs886045469
NM_001377299.1(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_001377299.1(NDUFS2):c.*78GT[14] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[16] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[18] rs10629771
NM_001377299.1(NDUFS2):c.1213-9del rs750838845
NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_001377299.1(NDUFS2):c.702+14_702+17dup rs776704187
NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_001849.4(COL6A2):c.116-11G>A rs886057166
NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser) rs779979272
NM_001849.4(COL6A2):c.1817-3del rs149954350
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.4(COL6A2):c.901-10C>T rs754039292
NM_001927.4(DES):c.*295G>A rs1954536782
NM_001927.4(DES):c.-54C>T rs1954355610
NM_001927.4(DES):c.-74C>T rs886055653
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.247T>C (p.Tyr83His) rs1954368990
NM_001927.4(DES):c.367A>C (p.Ile123Leu)
NM_001927.4(DES):c.735+11G>A rs1559352868
NM_001953.5(TYMP):c.-20C>T rs1040337014
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) rs2069332918
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) rs768582480
NM_001953.5(TYMP):c.214+6_214+7del rs753466981
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) rs377572658
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) rs775841111
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) rs769568725
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) rs781163498
NM_001953.5(TYMP):c.516+14C>T rs780757016
NM_001953.5(TYMP):c.516+4C>T rs369574115
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) rs367723039
NM_001953.5(TYMP):c.647-8C>T rs753922795
NM_001953.5(TYMP):c.756A>C (p.Ala252=) rs886057635
NM_001953.5(TYMP):c.766-10C>T rs886057634
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg) rs1412132331
NM_002206.3(ITGA7):c.180dup (p.Gln61fs) rs1565644465
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) rs1255776529
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A rs1740746273
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) rs1329465366
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) rs746246241
NM_003283.6(TNNT1):c.611+12G>A rs376456377
NM_003283.6(TNNT1):c.611+12G>T rs376456377
NM_003283.6(TNNT1):c.751-5C>T rs192248377
NM_003289.4(TPM2):c.*22C>A rs1824669468
NM_003289.4(TPM2):c.-92C>T rs886063906
NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr) rs1369077598
NM_003289.4(TPM2):c.760G>A (p.Asp254Asn) rs1419786293
NM_003673.4(TCAP):c.*418C>T rs45500896
NM_003673.4(TCAP):c.111-13C>A rs773913117
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003863.3(DPM2):c.-267T>C rs1831540551
NM_003863.3(DPM2):c.-319G>A rs886063486
NM_003863.3(DPM2):c.-84G>A rs1831537719
NM_003863.4(DPM2):c.*124G>C rs1831491179
NM_003863.4(DPM2):c.*231C>T rs1831489245
NM_003863.4(DPM2):c.*404C>T rs1245531633
NM_003863.4(DPM2):c.*49G>T rs886063481
NM_003863.4(DPM2):c.*510A>G rs1831485679
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.88C>G (p.Leu30Val) rs886063483
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) rs372989971
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) rs6962
NM_004168.4(SDHA):c.1977A>G (p.Pro659=) rs768693502
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) rs1734960553
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) rs1337777456
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004281.4(BAG3):c.*455G>A rs978995119
NM_004281.4(BAG3):c.*469A>G rs1847262118
NM_004281.4(BAG3):c.-285C>T rs866276705
NM_004281.4(BAG3):c.-319C>T rs987450541
NM_004281.4(BAG3):c.-87G>T rs879223257
NM_004281.4(BAG3):c.1503C>T (p.Val501=) rs147277075
NM_004281.4(BAG3):c.1667C>A (p.Ala556Glu) rs886046756
NM_004281.4(BAG3):c.637G>A (p.Glu213Lys) rs1311591078
NM_004281.4(BAG3):c.7G>T (p.Ala3Ser) rs956429406
NM_004320.6(ATP2A1):c.*158A>T rs1037560496
NM_004320.6(ATP2A1):c.*203G>C rs886051884
NM_004320.6(ATP2A1):c.*234T>G rs1749997734
NM_004320.6(ATP2A1):c.1176G>A (p.Glu392=) rs886051879
NM_004320.6(ATP2A1):c.1936G>A (p.Glu646Lys) rs141394193
NM_004320.6(ATP2A1):c.1941G>A (p.Glu647=) rs886051880
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys) rs148957878
NM_004320.6(ATP2A1):c.2091C>G (p.Ile697Met) rs886051881
NM_004320.6(ATP2A1):c.2101-15C>T rs1964082734
NM_004320.6(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu) rs1057522931
NM_004320.6(ATP2A1):c.2959G>A (p.Val987Ile) rs200445830
NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu) rs200445830
NM_004320.6(ATP2A1):c.41C>A (p.Ala14Asp) rs1320892017
NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu) rs956847228
NM_004320.6(ATP2A1):c.78G>A (p.Pro26=) rs886051878
NM_004320.6(ATP2A1):c.937G>A (p.Ala313Thr) rs762549353
NM_004544.4(NDUFA10):c.*1047T>C rs1694787943
NM_004544.4(NDUFA10):c.*1124C>T rs754187471
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1391C>T rs552149779
NM_004544.4(NDUFA10):c.*1586A>G rs1483288404
NM_004544.4(NDUFA10):c.*1702G>A rs1694755462
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*2009G>C rs370309206
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2046T>C rs1694740787
NM_004544.4(NDUFA10):c.*2079A>G rs1574808891
NM_004544.4(NDUFA10):c.*2136T>C rs943989946
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.*2838C>A rs532456176
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3009T>C rs1694711139
NM_004544.4(NDUFA10):c.*3052G>A rs1003876097
NM_004544.4(NDUFA10):c.*3175T>G rs1694704488
NM_004544.4(NDUFA10):c.*3301C>T rs1694700570
NM_004544.4(NDUFA10):c.*3403A>G rs1574807018
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3456T>G rs1694694826
NM_004544.4(NDUFA10):c.*3490G>C rs1694693520
NM_004544.4(NDUFA10):c.*3724G>A rs1694684016
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*435A>G rs1054245819
NM_004544.4(NDUFA10):c.*548G>C rs1694810369
NM_004544.4(NDUFA10):c.*732T>G rs1349086163
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*861C>G rs551167199
NM_004544.4(NDUFA10):c.-34C>T rs920826583
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) rs201449418
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) rs558134843
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) rs1258770997
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) rs1559403435
NM_004544.4(NDUFA10):c.558C>T (p.His186=) rs1407750102
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) rs148656779
NM_004544.4(NDUFA10):c.749+5G>A rs1697147446
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) rs758042753
NM_004550.5(NDUFS2):c.-28C>T rs886045458
NM_004550.5(NDUFS2):c.-388G>A rs3813623
NM_004551.3(NDUFS3):c.-15C>G rs950097510
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) rs1555198759
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) rs773943416
NM_004553.6(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_005006.6(NDUFS1):c.-149T>G rs572965960
NM_005006.7(NDUFS1):c.*1077A>T rs917604810
NM_005006.7(NDUFS1):c.*459A>G rs1691173843
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A rs1691159722
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.-101G>A rs983757976
NM_005006.7(NDUFS1):c.-31A>G rs1687818178
NM_005006.7(NDUFS1):c.-38T>G rs1559071008
NM_005006.7(NDUFS1):c.-73C>A rs367649369
NM_005006.7(NDUFS1):c.-76G>A rs116137442
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) rs78042826
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-15dup rs34184317
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) rs1367512688
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) rs1692265722
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) rs774232299
NM_005138.3(SCO2):c.226C>T (p.Leu76=) rs942543259
NM_005138.3(SCO2):c.276A>G (p.Glu92=) rs886057630
NM_005138.3(SCO2):c.738G>A (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.738G>C (p.Ser246=) rs200605042
NM_005198.5(CHKB):c.1114-14G>A rs756289571
NM_005198.5(CHKB):c.1114-3T>G rs886057638
NM_005198.5(CHKB):c.447+12G>A rs749454476
NM_005198.5(CHKB):c.512T>C (p.Met171Thr) rs774685301
NM_005198.5(CHKB):c.565_568del (p.Phe189fs) rs752436924
NM_005198.5(CHKB):c.819-15A>T rs1272038088
NM_005476.7(GNE):c.*1012CA[10] rs10527967
NM_005476.7(GNE):c.*1012CA[14] rs10527967
NM_005476.7(GNE):c.*1012CA[15] rs10527967
NM_005476.7(GNE):c.*1012CA[16] rs10527967
NM_005476.7(GNE):c.*1012CA[22] rs10527967
NM_005476.7(GNE):c.*1127C>T rs1828268117
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1854C>T rs1828233358
NM_005476.7(GNE):c.*2185T>A rs1828216707
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*292C>G rs1335595008
NM_005476.7(GNE):c.*663A>G rs1373838375
NM_005476.7(GNE):c.*690T>A rs10972792
NM_005476.7(GNE):c.*692AAT[10] rs113316798
NM_005476.7(GNE):c.*692AAT[12] rs113316798
NM_005476.7(GNE):c.*692AAT[13] rs113316798
NM_005476.7(GNE):c.*692AAT[9] rs113316798
NM_005476.7(GNE):c.*693A>T rs886063922
NM_005476.7(GNE):c.*694T>A rs867926432
NM_005476.7(GNE):c.*702dup rs886063921
NM_005476.7(GNE):c.*988G>C rs916769105
NM_005476.7(GNE):c.1281+13C>A rs1022557448
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_006790.3(MYOT):c.*188A>C rs1561666869
NM_006790.3(MYOT):c.*50T>G rs1755640829
NM_006790.3(MYOT):c.-89del rs886059966
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.348G>A (p.Met116Ile) rs1295803826
NM_006790.3(MYOT):c.356+13T>G rs1461754985
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.896+6695T>C rs1846150336
NM_007078.3(LDB3):c.896+6814G>A rs1846157787
NM_007078.3(LDB3):c.896+6872G>A rs1037329839
NM_007078.3(LDB3):c.896+6957G>A rs886047354
NM_007078.3(LDB3):c.897-6525T>C rs886047356
NM_007078.3(LDB3):c.897-6702C>G rs1188752285
NM_007078.3(LDB3):c.897-6707G>A rs537660741
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.3(NDUFV1):c.-159G>T rs1387676031
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-61A>G rs947406124
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) rs1854932368
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) rs147719815
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) rs1432435322
NM_007126.5(VCP):c.*216G>A rs567542622
NM_007126.5(VCP):c.*788G>A rs886063887
NM_007126.5(VCP):c.-53C>T rs369830702
NM_007126.5(VCP):c.1293C>T (p.Asp431=) rs1828712869
NM_007126.5(VCP):c.130-9T>C rs1828868223
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) rs886063892
NM_007126.5(VCP):c.591C>G (p.Ser197=) rs866003333
NM_007126.5(VCP):c.794T>C (p.Phe265Ser) rs1828756507
NM_007215.4(POLG2):c.-66C>T rs886053251
NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu) rs2037794198
NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer) rs1568079693
NM_007215.4(POLG2):c.358G>A (p.Val120Met) rs782034872
NM_007215.4(POLG2):c.381G>A (p.Pro127=) rs2038155788
NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) rs371515325
NM_007215.4(POLG2):c.970-4G>A rs2037942296
NM_012210.4(TRIM32):c.*1060T>C rs886063385
NM_012210.4(TRIM32):c.*1074A>T rs1861131414
NM_012210.4(TRIM32):c.*1207A>G rs886063386
NM_012210.4(TRIM32):c.*1254C>A rs1861140982
NM_012210.4(TRIM32):c.*1490A>C rs886063388
NM_012210.4(TRIM32):c.*152T>G rs868402796
NM_012210.4(TRIM32):c.*206A>G rs567913198
NM_012210.4(TRIM32):c.*250G>C rs1861092175
NM_012210.4(TRIM32):c.*312G>C rs1434937610
NM_012210.4(TRIM32):c.*371T>C rs866692844
NM_012210.4(TRIM32):c.*464C>G rs1861100376
NM_012210.4(TRIM32):c.*479G>T rs543534409
NM_012210.4(TRIM32):c.*737T>C rs549857802
NM_012210.4(TRIM32):c.*866A>C rs886063383
NM_012210.4(TRIM32):c.-143C>T rs1860294388
NM_012210.4(TRIM32):c.1573G>T (p.Gly525Cys) rs1861055421
NM_012210.4(TRIM32):c.317G>A (p.Arg106His) rs760730435
NM_012210.4(TRIM32):c.621A>G (p.Thr207=) rs1206247561
NM_012210.4(TRIM32):c.660G>C (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp) rs372298402
NM_013382.7(POMT2):c.*103C>T rs886050825
NM_013382.7(POMT2):c.*1043C>T rs373396403
NM_013382.7(POMT2):c.*1317A>G rs144329117
NM_013382.7(POMT2):c.*1317A>T rs144329117
NM_013382.7(POMT2):c.*1474G>A rs749841763
NM_013382.7(POMT2):c.*15T>C rs538140316
NM_013382.7(POMT2):c.*1610T>C rs886050814
NM_013382.7(POMT2):c.*1641C>T rs151201281
NM_013382.7(POMT2):c.*1734A>C rs1889915019
NM_013382.7(POMT2):c.*1774C>T rs1889911263
NM_013382.7(POMT2):c.*186C>G rs547018226
NM_013382.7(POMT2):c.*1906G>A rs1429067153
NM_013382.7(POMT2):c.*2077T>C rs1889895782
NM_013382.7(POMT2):c.*2080G>A rs1889895704
NM_013382.7(POMT2):c.*2093A>G rs528818473
NM_013382.7(POMT2):c.*2151A>G rs45579739
NM_013382.7(POMT2):c.*574T>C rs574135706
NM_013382.7(POMT2):c.*594G>A rs886050821
NM_013382.7(POMT2):c.*605C>G rs186897393
NM_013382.7(POMT2):c.*605C>T rs186897393
NM_013382.7(POMT2):c.-113G>A rs1891868176
NM_013382.7(POMT2):c.-136G>A rs1891870150
NM_013382.7(POMT2):c.-172C>A rs897215490
NM_013382.7(POMT2):c.-176C>G rs978645827
NM_013382.7(POMT2):c.1133A>G (p.His378Arg) rs867000155
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr) rs1890397099
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1576+10G>T rs756884609
NM_013382.7(POMT2):c.1725+13G>C rs1890173997
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.547+14G>T rs1404659015
NM_013382.7(POMT2):c.90C>T (p.Gly30=) rs923004188
NM_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1247A>G rs1775290779
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*14A>C rs1775308769
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*289C>T rs143895125
NM_014165.4(NDUFAF4):c.*305C>A rs576437181
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.-11G>T rs571796525
NM_014165.4(NDUFAF4):c.-20G>T rs1186295770
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) rs1562146819
NM_015713.4(RRM2B):c.-193G>C rs1325086159
NM_015713.5(RRM2B):c.*1337G>C rs962002084
NM_015713.5(RRM2B):c.*1451A>C rs11575864
NM_015713.5(RRM2B):c.*1552T>C rs1051017101
NM_015713.5(RRM2B):c.*1717T>A rs886062566
NM_015713.5(RRM2B):c.*2328A>T rs886062565
NM_015713.5(RRM2B):c.*247G>A rs886062568
NM_015713.5(RRM2B):c.*2492AAGTT[1] rs886062564
NM_015713.5(RRM2B):c.*2513T>C rs866323859
NM_015713.5(RRM2B):c.*2728G>A rs1810526776
NM_015713.5(RRM2B):c.*2809G>A rs886062562
NM_015713.5(RRM2B):c.*2991C>T rs972415772
NM_015713.5(RRM2B):c.*2995A>T rs1810522232
NM_015713.5(RRM2B):c.*3250G>C rs1279038036
NM_015713.5(RRM2B):c.*3473A>G rs1810512728
NM_015713.5(RRM2B):c.*3577G>T rs779768316
NM_015713.5(RRM2B):c.*436A>G rs1810567744
NM_015713.5(RRM2B):c.*485A>C rs531379490
NM_015713.5(RRM2B):c.*73A>T rs886062570
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.*855C>G rs886062567
NM_015713.5(RRM2B):c.*895G>A rs1810559850
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-192T>C rs948869374
NM_016013.4(NDUFAF1):c.-242G>C rs762867624
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln) rs576430165
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val) rs769371844
NM_017534.6(MYH2):c.-10T>C rs886052574
NM_017534.6(MYH2):c.-64+13A>G rs886052576
NM_017534.6(MYH2):c.132A>C (p.Lys44Asn) rs2073654641
NM_017534.6(MYH2):c.1444A>C (p.Asn482His) rs886052570
NM_017534.6(MYH2):c.1644C>A (p.Asp548Glu) rs886052569
NM_017534.6(MYH2):c.1913G>A (p.Gly638Glu) rs2073484495
NM_017534.6(MYH2):c.2125C>T (p.Arg709Cys) rs761461325
NM_017534.6(MYH2):c.2181-9C>T rs886052568
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr) rs1167250510
NM_017534.6(MYH2):c.2331G>A (p.Gly777=) rs886052567
NM_017534.6(MYH2):c.2331G>T (p.Gly777=) rs886052567
NM_017534.6(MYH2):c.2478C>T (p.Ser826=) rs2073428153
NM_017534.6(MYH2):c.2893C>T (p.Leu965=) rs886052566
NM_017534.6(MYH2):c.301G>C (p.Ala101Pro) rs886052573
NM_017534.6(MYH2):c.3312G>A (p.Gln1104=) rs1257247271
NM_017534.6(MYH2):c.3369G>C (p.Glu1123Asp) rs2073391277
NM_017534.6(MYH2):c.3468G>A (p.Leu1156=) rs2073389597
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val) rs138470281
NM_017534.6(MYH2):c.4048C>T (p.Arg1350Trp) rs776018379
NM_017534.6(MYH2):c.495C>A (p.Phe165Leu) rs886052572
NM_017534.6(MYH2):c.5176-10T>C rs886052563
NM_017534.6(MYH2):c.5176-12C>A rs1270961978
NM_017534.6(MYH2):c.5616T>C (p.Asp1872=) rs2073304426
NM_017534.6(MYH2):c.579C>T (p.Ile193=) rs886052571
NM_017534.6(MYH2):c.71G>T (p.Arg24Leu) rs141174023
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=) rs560953332
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=) rs1951030849
NM_017547.4(FOXRED1):c.417+6T>C rs1951035111
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly) rs886047981
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr) rs148955548
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_017641.3(KIF21A):c.-203C>G rs886049349
NM_017641.3(KIF21A):c.-335C>G rs886049351
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.-144C>T rs1571674193
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_018834.6(MATR3):c.*138T>C rs1756028343
NM_018834.6(MATR3):c.*1633T>C rs886059998
NM_018834.6(MATR3):c.*175AT[1] rs767576295
NM_018834.6(MATR3):c.*1821T>G rs886060000
NM_018834.6(MATR3):c.*1999G>T rs886060002
NM_018834.6(MATR3):c.*2077A>C rs886060003
NM_018834.6(MATR3):c.*413A>T rs886059995
NM_018834.6(MATR3):c.*441C>G rs572126808
NM_018834.6(MATR3):c.*487C>T rs1756049111
NM_018834.6(MATR3):c.*929G>A rs886059997
NM_018834.6(MATR3):c.-124T>C rs886059987
NM_018834.6(MATR3):c.-139G>A rs886059986
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe) rs886059991
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro) rs772433814
NM_018834.6(MATR3):c.2493+7_2493+9del rs886059992
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_021074.5(NDUFV2):c.*51A>C rs1188007874
NM_021074.5(NDUFV2):c.-39G>T rs748188888
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.5(NDUFV2):c.301-10A>G rs756241126
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu) rs2077948602
NM_021074.5(NDUFV2):c.469+12A>G rs538112556
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=) rs1372175274
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_024407.5(NDUFS7):c.*3CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3CCG[5] rs3065757
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024854.5(PYROXD1):c.750+5C>A
NM_025152.3(NUBPL):c.*1015C>A rs551958784
NM_025152.3(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.3(NUBPL):c.*1121_*1123del rs886050458
NM_025152.3(NUBPL):c.*1121dup rs886050457
NM_025152.3(NUBPL):c.*1122_*1124del rs886050460
NM_025152.3(NUBPL):c.*1122dup rs886050459
NM_025152.3(NUBPL):c.*1144_*1147del rs34847511
NM_025152.3(NUBPL):c.*1145_*1148del rs886050463
NM_025152.3(NUBPL):c.*1146_*1148del rs886050464
NM_025152.3(NUBPL):c.*1147dup rs34847511
NM_025152.3(NUBPL):c.*1148del rs886050465
NM_025152.3(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*1155dup rs886050467
NM_025152.3(NUBPL):c.*1260T>C rs551289319
NM_025152.3(NUBPL):c.*1594T>G rs2040700976
NM_025152.3(NUBPL):c.*1619C>T rs886050468
NM_025152.3(NUBPL):c.*1655A>G rs1407466515
NM_025152.3(NUBPL):c.*1768G>A rs2040704041
NM_025152.3(NUBPL):c.*1773A>G rs886050469
NM_025152.3(NUBPL):c.*1776G>A rs886050470
NM_025152.3(NUBPL):c.*237G>T rs1566603021
NM_025152.3(NUBPL):c.*323G>T rs2040678852
NM_025152.3(NUBPL):c.*742C>G rs760265792
NM_025152.3(NUBPL):c.*817T>A rs2040686751
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val) rs2033400591
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.90G>A (p.Ala30=) rs773747183
NM_025215.6(PUS1):c.-151G>A rs1890481878
NM_025215.6(PUS1):c.-424C>T rs1890465624
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val) rs200292016
NM_025215.6(PUS1):c.423C>A (p.Arg141=) rs371752870
NM_025215.6(PUS1):c.937G>A (p.Val313Met) rs140088613
NM_032446.2(MEGF10):c.-348C>A rs573108245
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)
NM_058246.4(DNAJB6):c.*118G>A rs886062130
NM_058246.4(DNAJB6):c.*1236G>A rs886062137
NM_058246.4(DNAJB6):c.*243T>C rs971860158
NM_058246.4(DNAJB6):c.*513C>T rs538467964
NM_058246.4(DNAJB6):c.*586T>C rs886062133
NM_058246.4(DNAJB6):c.*64C>A rs562936080
NM_058246.4(DNAJB6):c.*664A>G rs779593683
NM_058246.4(DNAJB6):c.*72C>A rs116630040
NM_058246.4(DNAJB6):c.*781C>A rs886062135
NM_058246.4(DNAJB6):c.*965T>C rs1796122012
NM_058246.4(DNAJB6):c.*98A>G rs1796104403
NM_058246.4(DNAJB6):c.-108C>A rs886062125
NM_058246.4(DNAJB6):c.-77G>A rs951471745
NM_058246.4(DNAJB6):c.-7G>A rs751502803
NM_058246.4(DNAJB6):c.-93G>T rs886062126
NM_058246.4(DNAJB6):c.188A>G (p.Asp63Gly) rs886062127
NM_058246.4(DNAJB6):c.844G>A (p.Glu282Lys) rs911721201
NM_133642.5(LARGE1):c.*479A>T rs886057459
NM_133642.5(LARGE1):c.*501T>C rs886057457
NM_133642.5(LARGE1):c.*639T>G rs373361875
NM_133642.5(LARGE1):c.*995T>C rs1928531659
NM_133642.5(LARGE1):c.-202C>A rs946350081
NM_133642.5(LARGE1):c.-292G>C rs886057466
NM_133642.5(LARGE1):c.-377C>G rs1218154642
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) rs369168322
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) rs1428533575
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) rs539747006
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) rs757062605
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) rs1928773545
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) rs1372134080
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_138638.5(CFL2):c.*1030C>G rs1885306504
NM_138638.5(CFL2):c.*2340T>G rs886050473
NM_138638.5(CFL2):c.*362G>A rs553554454
NM_138638.5(CFL2):c.76C>G (p.Gln26Glu) rs1885389290
NM_139343.2(BIN1):c.-366C>A rs886054843
NM_139343.3(BIN1):c.*194C>T rs565856632
NM_139343.3(BIN1):c.*214G>A rs886054832
NM_139343.3(BIN1):c.*247G>T rs1334404831
NM_139343.3(BIN1):c.*479del rs367627116
NM_139343.3(BIN1):c.*55G>A rs886054833
NM_139343.3(BIN1):c.*82C>T rs111649895
NM_139343.3(BIN1):c.-105G>T rs575072529
NM_139343.3(BIN1):c.-114del rs886054837
NM_139343.3(BIN1):c.-146C>G rs1462553382
NM_139343.3(BIN1):c.-177_-174dup rs886054838
NM_139343.3(BIN1):c.-192G>A rs886054839
NM_139343.3(BIN1):c.-197C>A rs886054840
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) rs758494519
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) rs775119768
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.84+9G>A rs762680903
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) rs1684085224
NM_152263.4(TPM3):c.*1093T>C rs886045311
NM_152263.4(TPM3):c.*1359G>T rs563700738
NM_152263.4(TPM3):c.*1397A>G rs1660988364
NM_152263.4(TPM3):c.*1964A>G rs886045309
NM_152263.4(TPM3):c.*2035C>T rs886045308
NM_152263.4(TPM3):c.*2130del rs370257288
NM_152263.4(TPM3):c.*2295T>C rs1261513379
NM_152263.4(TPM3):c.*2597G>T rs886045305
NM_152263.4(TPM3):c.*2675T>C rs886045304
NM_152263.4(TPM3):c.*2757C>G rs897434039
NM_152263.4(TPM3):c.*2774G>C rs886045303
NM_152263.4(TPM3):c.*3015G>A rs1207872451
NM_152263.4(TPM3):c.*325G>A rs886045315
NM_152263.4(TPM3):c.*3558G>A rs886045302
NM_152263.4(TPM3):c.*3756dup rs574252210
NM_152263.4(TPM3):c.*3807G>T rs886045301
NM_152263.4(TPM3):c.*3872T>C rs1571372689
NM_152263.4(TPM3):c.*4194G>A rs886045300
NM_152263.4(TPM3):c.*41C>G rs886045318
NM_152263.4(TPM3):c.*4423G>A rs373468102
NM_152263.4(TPM3):c.*4574_*4578del rs886045293
NM_152263.4(TPM3):c.*4636G>A rs886045292
NM_152263.4(TPM3):c.*5028_*5029dup rs886045291
NM_152263.4(TPM3):c.*5204C>T rs1660513178
NM_152263.4(TPM3):c.*5239C>T rs1020851805
NM_152263.4(TPM3):c.*5266T>G rs143097126
NM_152263.4(TPM3):c.*5406A>G rs1039422203
NM_152263.4(TPM3):c.*5549GT[1] rs886045290
NM_152263.4(TPM3):c.*5572dup rs58289686
NM_152263.4(TPM3):c.*5573GA[1] rs886045288
NM_152263.4(TPM3):c.*5583C>T rs886045286
NM_152263.4(TPM3):c.*5594G>T rs550606876
NM_152263.4(TPM3):c.*5715C>T rs527401847
NM_152263.4(TPM3):c.*5865A>G rs1159409765
NM_152263.4(TPM3):c.*5870A>T rs890715632
NM_152263.4(TPM3):c.*5926T>C rs886045285
NM_152263.4(TPM3):c.*61C>A rs886045317
NM_152263.4(TPM3):c.*958C>T rs577888532
NM_152263.4(TPM3):c.243+11GA[2] rs146969764
NM_152263.4(TPM3):c.324C>T (p.Ala108=) rs1034128909
NM_152263.4(TPM3):c.776-14C>T rs943685377
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) rs1752321893
NM_175614.4(NDUFA11):c.*69_*70delGT rs755637853
NM_175614.4(NDUFA11):c.-205_-204CT[2] rs759857076
NM_175614.5(NDUFA11):c.*55G>C rs771648754
NM_175614.5(NDUFA11):c.-51T>G rs886054649
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser) rs2057614252
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) rs1345378776
NM_182914.2(SYNE2):c.-209A>T rs886050574
NM_182914.3(SYNE2):c.*145C>A rs886050602
NM_182914.3(SYNE2):c.*149G>C rs886050603
NM_182914.3(SYNE2):c.*219T>G rs886050604
NM_182914.3(SYNE2):c.*359A>C rs886050606
NM_182914.3(SYNE2):c.*521A>G rs2098717089
NM_182914.3(SYNE2):c.*574A>G rs954643801
NM_182914.3(SYNE2):c.*695T>G rs886050608
NM_182914.3(SYNE2):c.*732G>A rs886050609
NM_182914.3(SYNE2):c.*819G>A rs1300953935
NM_182914.3(SYNE2):c.*820T>G rs941392635
NM_182914.3(SYNE2):c.*824G>A rs2098718315
NM_182914.3(SYNE2):c.-149G>A rs926052381
NM_182914.3(SYNE2):c.-52G>A rs1393089319
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg) rs1369723578
NM_182914.3(SYNE2):c.10881C>T (p.Ile3627=) rs750125057
NM_182914.3(SYNE2):c.11016T>C (p.Asp3672=) rs886050584
NM_182914.3(SYNE2):c.11023-14T>C rs2097488518
NM_182914.3(SYNE2):c.1129-4_1129-3del rs886050578
NM_182914.3(SYNE2):c.114G>A (p.Thr38=) rs369020126
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His) rs2097575346
NM_182914.3(SYNE2):c.11993C>T (p.Thr3998Ile) rs886050585
NM_182914.3(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_182914.3(SYNE2):c.12064G>A (p.Glu4022Lys) rs886050586
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=) rs755552590
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr) rs2097691016
NM_182914.3(SYNE2):c.12311A>C (p.Asn4104Thr) rs886050587
NM_182914.3(SYNE2):c.12610G>T (p.Gly4204Cys) rs886050588
NM_182914.3(SYNE2):c.12637A>C (p.Thr4213Pro) rs886050589
NM_182914.3(SYNE2):c.12840+12A>G rs886050591
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=) rs775368857
NM_182914.3(SYNE2):c.13906C>T (p.Arg4636Cys) rs767673156
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro) rs751092033
NM_182914.3(SYNE2):c.15263C>A (p.Pro5088Gln) rs779934215
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile) rs2098161023
NM_182914.3(SYNE2):c.16300G>A (p.Glu5434Lys) rs886050594
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=) rs2098368173
NM_182914.3(SYNE2):c.16605+9A>G rs775937516
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=) rs1056275153
NM_182914.3(SYNE2):c.17001-8T>C rs768210935
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=) rs2098427126
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr) rs1208826730
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.18121A>G (p.Ile6041Val) rs886050597
NM_182914.3(SYNE2):c.1837-11G>A rs770407054
NM_182914.3(SYNE2):c.18541-9G>A rs886050598
NM_182914.3(SYNE2):c.1867C>G (p.Leu623Val) rs886050579
NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly) rs2098632167
NM_182914.3(SYNE2):c.19402+10C>T rs759119344
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys) rs1488229138
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly) rs753598628
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr) rs908836747
NM_182914.3(SYNE2):c.20383-15G>T rs886050600
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe) rs564532190
NM_182914.3(SYNE2):c.20562G>T (p.Val6854=) rs755188684
NM_182914.3(SYNE2):c.20721A>G (p.Thr6907=) rs886050601
NM_182914.3(SYNE2):c.287A>G (p.His96Arg) rs2095922493
NM_182914.3(SYNE2):c.3715C>G (p.Leu1239Val) rs886050581
NM_182914.3(SYNE2):c.4190C>A (p.Thr1397Asn) rs760136466
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly) rs1421966833
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro) rs1482814444
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796
NM_182914.3(SYNE2):c.4728+9A>G rs2096831894
NM_182914.3(SYNE2):c.5696A>G (p.Lys1899Arg) rs886050582
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=) rs2096966269
NM_182914.3(SYNE2):c.6247A>T (p.Ile2083Phe) rs200739844
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr) rs1473588731
NM_182914.3(SYNE2):c.8232G>T (p.Lys2744Asn) rs886050583
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=) rs778905999
NM_182914.3(SYNE2):c.888+13A>G rs2096315740
NM_182914.3(SYNE2):c.8928T>G (p.Gly2976=) rs373828834
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu) rs768731460
NM_182914.3(SYNE2):c.9396G>A (p.Lys3132=) rs566182360
NM_182914.3(SYNE2):c.9873A>G (p.Glu3291=) rs747745836
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe) rs2097267152
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*449T>A rs886061188
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.*580del rs886061186
NM_182961.4(SYNE1):c.*667del rs71660056
NM_182961.4(SYNE1):c.-352C>T rs886061220
NM_182961.4(SYNE1):c.-40A>T rs2099690467
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=) rs886061205
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly) rs2096893025
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=) rs765669433
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr) rs2098931353
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=) rs767172575
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly) rs767172575
NM_182961.4(SYNE1):c.1119C>T (p.His373=) rs886061217
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val) rs756840607
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg) rs2096590726
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys) rs1159138676
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met) rs144274149
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp) rs866991892
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe) rs761198236
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly) rs886061204
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys) rs746657854
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr) rs759275432
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=) rs762262465
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met) rs886061203
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn) rs886061216
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro) rs2095450657
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=) rs997194150
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg) rs2093773675
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys) rs867471417
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala) rs886061202
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp) rs2092880052
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln) rs200360218
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro) rs886061201
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val) rs1275027623
NM_182961.4(SYNE1):c.1932+9G>T rs746181375
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=) rs2082942186
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=) rs886061200
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg) rs2081442642
NM_182961.4(SYNE1):c.21351+14C>T rs2081426061
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=) rs1427603497
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp) rs886061199
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His) rs886061198
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=) rs886061197
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His) rs756758310
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg) rs886061215
NM_182961.4(SYNE1):c.22044+9C>T rs774609945
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val) rs963496863
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr) rs886061214
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr) rs767407271
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr) rs886061195
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg) rs2063159798
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile) rs757122298
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala) rs746086003
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=) rs886061194
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala) rs2061108490
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=) rs2061105872
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=) rs886061193
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser) rs886061192
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu) rs2060437692
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu) rs148367376
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His) rs766534980
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr) rs1466825112
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His) rs886061191
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=) rs2098645628
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=) rs1041302788
NM_182961.4(SYNE1):c.403-10T>G rs886061219
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln) rs149918889
NM_182961.4(SYNE1):c.4461+6C>T rs776194459
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr) rs1487588055
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln) rs1295935097
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser) rs886061218
NM_182961.4(SYNE1):c.553T>C (p.Leu185=) rs2099078168
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr) rs917922270
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=) rs773819434
NM_182961.4(SYNE1):c.6541-12T>A rs2097913765
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly) rs886061211
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser) rs2099051828
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu) rs1374881204
NM_182961.4(SYNE1):c.68-14C>A rs554675581
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe) rs867285350
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly) rs1395736433
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr) rs1317403604
NM_182961.4(SYNE1):c.7030-14C>T rs1257361080
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT rs764324594
NM_182961.4(SYNE1):c.7713-18_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7713-19_7713-13dup rs756232172
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys) rs766019755
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp) rs886061208
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val) rs1591451162
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln) rs1024177161
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr) rs886061206
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_199069.1(NDUFAF3):c.-118G>A rs886058666
NM_199069.1(NDUFAF3):c.-143A>T rs2093162490
NM_199069.1(NDUFAF3):c.-369C>T rs886058664
NM_199069.1(NDUFAF3):c.-370A>G rs886058663
NM_199069.1(NDUFAF3):c.-489T>C rs886058662
NM_199069.1(NDUFAF3):c.-503G>A rs774579592
NM_199069.1(NDUFAF3):c.-503G>C rs774579592
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu) rs2093169670
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) rs1378867079
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371
NM_199189.2(MATR3):c.-563T>C rs1753162477
NM_213599.3(ANO5):c.*106T>C rs886048126
NM_213599.3(ANO5):c.*1095G>A rs886048130
NM_213599.3(ANO5):c.*112_*113del rs5790246
NM_213599.3(ANO5):c.*114C>T rs12575889
NM_213599.3(ANO5):c.*114_*115del rs886048127
NM_213599.3(ANO5):c.*1666_*1669dup rs886048134
NM_213599.3(ANO5):c.*1674T>A rs886048135
NM_213599.3(ANO5):c.*220G>A rs886048128
NM_213599.3(ANO5):c.*2252T>C rs886048137
NM_213599.3(ANO5):c.*2296T>C rs762485787
NM_213599.3(ANO5):c.*2704A>C rs886048139
NM_213599.3(ANO5):c.*2784G>A rs886048140
NM_213599.3(ANO5):c.*2980T>C rs886048141
NM_213599.3(ANO5):c.*3251_*3253del rs548308698
NM_213599.3(ANO5):c.*3273G>C rs886048145
NM_213599.3(ANO5):c.*3473T>G rs886048147
NM_213599.3(ANO5):c.*811A>G rs886048129
NM_213599.3(ANO5):c.*99del rs376217145
NM_213599.3(ANO5):c.-194G>T rs573002846
NM_213599.3(ANO5):c.1277T>C (p.Leu426Pro) rs886048119
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.138+7A>G rs886048118
NM_213599.3(ANO5):c.1641A>C (p.Arg547=) rs886048120
NM_213599.3(ANO5):c.2236-10_2236-7del rs886048121
NM_213599.3(ANO5):c.2249C>T (p.Ala750Val) rs886048123
NM_213599.3(ANO5):c.2580T>C (p.Asp860=) rs886048125
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.79A>C (p.Met27Leu) rs886048117
NM_213599.3(ANO5):c.88-14C>T rs770721931
NM_213674.1(TPM2):c.-118G>A rs986048371
NM_213674.1(TPM2):c.-142C>T rs1825166266

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