ClinVar Miner

List of variants reported as likely benign 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: 1446
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_014363.6(SACS):c.*484T>C rs4770433 0.36808
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_001079802.2(FKTN):c.-158G>C rs4742953 0.27121
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_004168.3(SDHA):c.-115T>C rs2303741 0.25160
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960 0.24550
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NC_000012.12:g.32744623G>T rs11052213 0.15596
NC_000012.12:g.32744154A>T rs1971911 0.15585
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_152263.4(TPM3):c.*3248G>A rs12026177 0.15247
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_012062.5(DNM1L):c.*1242G>A rs10844336 0.14342
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326 0.11754
NC_000018.10:g.9134356C>G rs12454908 0.11308
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_025152.3(NUBPL):c.*537dup rs200626091 0.09955
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_139343.2(BIN1):c.-389T>A rs56827597 0.08511
NM_004168.4(SDHA):c.1908+15C>T rs34504623 0.08152
NM_012062.5(DNM1L):c.*600C>T rs3600 0.08008
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_004320.6(ATP2A1):c.1764+6del rs66716803 0.06704
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099 0.05590
NM_001849.4(COL6A2):c.*61G>A rs1043801 0.05523
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=) rs76336581 0.05399
NM_001256545.2(MEGF10):c.*2114T>C rs77171194 0.05204
NM_014165.4(NDUFAF4):c.*350A>C rs41288598 0.04940
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_001256545.2(MEGF10):c.*1810C>T rs17685202 0.04703
NM_001256545.2(MEGF10):c.*1410G>T rs11745840 0.04651
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_004544.4(NDUFA10):c.*3075T>G rs7588974 0.03737
NM_025152.3(NUBPL):c.*1451C>T rs28533800 0.03631
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_014165.4(NDUFAF4):c.*387C>T rs41288596 0.03489
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=) rs17164938 0.03315
NM_001256545.2(MEGF10):c.*1150T>C rs75528418 0.03313
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_016013.4(NDUFAF1):c.-379C>T rs146883891 0.03244
NM_014165.4(NDUFAF4):c.*639A>C rs11759571 0.03170
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001256545.2(MEGF10):c.*1522C>A rs74560067 0.03005
NM_001130987.2(DYSF):c.*199T>G rs13429381 0.02954
NC_000013.11:g.23329665G>A rs11843731 0.02927
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_005006.7(NDUFS1):c.*256C>T rs10198830 0.02838
NM_005006.7(NDUFS1):c.551+14C>A rs10206644 0.02838
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890 0.02835
NM_016013.4(NDUFAF1):c.-386A>T rs111326645 0.02811
NM_001042631.3(SDHAF1):c.*156G>T rs115204084 0.02741
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=) rs35591368 0.02614
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888 0.02420
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_004544.4(NDUFA10):c.*3349G>A rs77216981 0.02367
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016 0.02302
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_001025389.2(AMPD3):c.669C>T (p.His223=) rs34319136 0.02210
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_001267550.2(TTN):c.*664G>T rs72629796 0.02133
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001025389.2(AMPD3):c.1674C>T (p.Tyr558=) rs114718879 0.01986
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_021074.5(NDUFV2):c.580-12T>A rs114558512 0.01953
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_152263.4(TPM3):c.*389G>A rs74731791 0.01922
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_013382.7(POMT2):c.*1337C>T rs45561437 0.01861
NM_017547.4(FOXRED1):c.*190T>C rs77902129 0.01849
NM_001849.4(COL6A2):c.*56T>G rs148337125 0.01837
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_001267550.2(TTN):c.-108G>A rs13422986 0.01823
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_001256545.2(MEGF10):c.2076C>T (p.Pro692=) rs115309591 0.01810
NM_001377299.1(NDUFS2):c.986+12A>G rs11265565 0.01793
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_001256545.2(MEGF10):c.*2240G>A rs77136524 0.01650
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001256545.2(MEGF10):c.984C>T (p.Asn328=) rs35550094 0.01638
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_001256545.2(MEGF10):c.*534A>G rs75370992 0.01632
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=) rs56157640 0.01628
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_000070.3(CAPN3):c.1355-6G>A rs28364485 0.01593
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_012062.5(DNM1L):c.*1415T>C rs114366772 0.01556
NM_175614.4(NDUFA11):c.-234T>C rs115530541 0.01556
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_002496.4(NDUFS8):c.-45A>C rs4147776 0.01538
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_001079802.2(FKTN):c.*4825T>C rs115155934 0.01517
NM_004544.4(NDUFA10):c.*2511C>T rs74540213 0.01512
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_004168.4(SDHA):c.-4A>G rs377134185 0.01501
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_014165.4(NDUFAF4):c.*1299G>A rs73758053 0.01451
NM_025152.3(NUBPL):c.*26C>G rs76130953 0.01425
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_005476.7(GNE):c.*74G>A rs16933089 0.01338
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_005476.7(GNE):c.*2211C>G rs150978860 0.01319
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_013382.7(POMT2):c.-56G>A rs567281401 0.01276
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_003863.3(DPM2):c.-382C>T rs112813338 0.01257
NC_000012.12:g.32744566G>C rs148183516 0.01245
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_014165.4(NDUFAF4):c.*1214G>A rs17057099 0.01241
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004544.4(NDUFA10):c.*1217A>G rs116403651 0.01210
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_018834.6(MATR3):c.-56G>A rs59033177 0.01187
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_004544.4(NDUFA10):c.*1878C>T rs80067639 0.01081
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
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_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001025389.2(AMPD3):c.1131C>T (p.His377=) rs76407515 0.01030
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_152263.4(TPM3):c.*4333A>G rs34629044 0.01027
NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser) rs75286033 0.01024
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_004544.4(NDUFA10):c.*3544C>T rs114944621 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779 0.00966
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497 0.00925
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_213599.3(ANO5):c.*1429A>G rs78143145 0.00911
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_152263.4(TPM3):c.*4062G>A rs140590273 0.00864
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_004544.4(NDUFA10):c.*407C>T rs74614612 0.00847
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001267550.2(TTN):c.33340+10T>C rs72650039 0.00830
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_013382.7(POMT2):c.*2091G>T rs139493728 0.00821
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_152263.4(TPM3):c.*5149G>A rs78002555 0.00816
NM_013382.7(POMT2):c.*1756C>T rs148688355 0.00815
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_001079802.2(FKTN):c.*1229A>G rs116549376 0.00711
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977 0.00701
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=) rs143750836 0.00681
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001079802.2(FKTN):c.*2213A>G rs141298287 0.00678
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001077365.2(POMT1):c.*206A>G rs111470256 0.00610
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00607
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=) rs75181912 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646 0.00585
NM_000070.3(CAPN3):c.2381-12A>G rs73402734 0.00578
NM_133642.5(LARGE1):c.*1235A>G rs1801820 0.00578
NM_152263.4(TPM3):c.*4154C>T rs145053113 0.00572
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=) rs139963368 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_000540.3(RYR1):c.9771C>T (p.Ala3257=) rs75991872 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NC_000021.9:g.46136261G>A rs77991819 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_000540.3(RYR1):c.2241G>A (p.Leu747=) rs34097444 0.00526
NM_001025389.2(AMPD3):c.960G>A (p.Ala320=) rs75283041 0.00523
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=) rs140688592 0.00517
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_001079802.2(FKTN):c.*2427G>T rs116364105 0.00472
NM_001267550.2(TTN):c.*587T>A rs114788736 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_152263.4(TPM3):c.*3497T>C rs144544045 0.00465
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_005476.7(GNE):c.-65G>A rs138897916 0.00463
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=) rs61739895 0.00460
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_006657.3(FTCD):c.*15C>A rs114980528 0.00458
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) rs114267234 0.00446
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883 0.00426
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=) rs116378128 0.00419
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=) rs116537677 0.00415
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_025215.6(PUS1):c.*119C>T rs117705819 0.00401
NM_001164508.2(NEB):c.1981C>T (p.Leu661=) rs146460133 0.00395
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00390
NM_001267550.2(TTN):c.*130G>C rs144026962 0.00388
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001164508.2(NEB):c.612+15C>T rs112288851 0.00360
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00347
NM_001164508.2(NEB):c.1257+13A>T rs75320668 0.00345
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_015713.5(RRM2B):c.*2151_*2152insA rs563908556 0.00332
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609 0.00327
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00325
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_152263.4(TPM3):c.*878A>G rs116789181 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
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_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_152263.4(TPM3):c.*780A>G rs185779007 0.00287
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_005476.7(GNE):c.*583G>A rs182741472 0.00279
NM_001164508.2(NEB):c.5032-15T>C rs201180226 0.00277
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_004544.4(NDUFA10):c.*1382C>T rs111337344 0.00263
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
NM_138638.5(CFL2):c.*40A>G rs74043541 0.00258
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
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.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_001164508.2(NEB):c.20682+13G>A rs189918704 0.00244
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=) rs140027285 0.00229
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000540.3(RYR1):c.958-11del rs537751969 0.00211
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_001079802.2(FKTN):c.*1018T>A rs16924759 0.00204
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) rs144482400 0.00202
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) rs111639540 0.00199
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_001164508.2(NEB):c.22050+13C>T rs113403461 0.00197
NM_000540.3(RYR1):c.3557-6C>T rs139849689 0.00196
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_001173464.2(KIF21A):c.*71C>G rs111409014 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val) rs2915960 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_001040436.3(YARS2):c.*469C>T rs182429712 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_152263.4(TPM3):c.*4876C>T rs141628385 0.00178
NM_005198.5(CHKB):c.249C>T (p.Phe83=) rs180979987 0.00176
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys) rs138205828 0.00169
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_001849.4(COL6A2):c.483C>T (p.Thr161=) rs138312213 0.00163
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223 0.00162
NM_005476.7(GNE):c.*2056C>T rs183641957 0.00160
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=) rs112197239 0.00156
NM_004281.4(BAG3):c.*267C>A rs552025009 0.00153
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00152
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_001256545.2(MEGF10):c.2034C>T (p.Asn678=) rs117124929 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_000183.3(HADHB):c.64+11T>C rs57709136 0.00141
NM_000540.3(RYR1):c.*135C>T rs188314477 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_001267550.2(TTN):c.48460+8C>T rs2288565 0.00137
NM_000540.3(RYR1):c.7615-7G>A rs146159174 0.00133
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_001256545.2(MEGF10):c.*1685G>T rs17763722 0.00126
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_007103.4(NDUFV1):c.*79C>T rs76839099 0.00124
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000540.3(RYR1):c.-102C>T rs190259953 0.00121
NM_004544.4(NDUFA10):c.*2202C>T rs77614498 0.00120
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_004544.4(NDUFA10):c.*2495C>T rs78395168 0.00119
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile) rs117668143 0.00101
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_000083.3(CLCN1):c.2364+10G>A rs201855153 0.00098
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001849.3(COL6A2):c.*307G>A rs532914531 0.00083
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_005476.7(GNE):c.*1635G>A rs190727651 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 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_138638.5(CFL2):c.*1268C>T rs753086248 0.00078
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn) rs200893443 0.00074
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_006790.3(MYOT):c.-233C>A rs186433387 0.00069
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) rs139675421 0.00064
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_005476.7(GNE):c.*2576A>G rs531142218 0.00063
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_001164508.2(NEB):c.2524-15G>T rs151206071 0.00059
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=) rs183998406 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_001927.4(DES):c.-44G>A rs184826121 0.00055
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=) rs148249892 0.00051
NM_006790.3(MYOT):c.*404G>A rs188240755 0.00051
NM_006790.3(MYOT):c.*463C>T rs149535236 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000540.3(RYR1):c.4074G>A (p.Gly1358=) rs372178862 0.00049
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_152263.4(TPM3):c.*157C>T rs144482403 0.00047
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807 0.00046
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_152263.4(TPM3):c.*1077A>C rs557217738 0.00045
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_025215.6(PUS1):c.456C>G (p.Ala152=) rs369170782 0.00044
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_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_001079802.2(FKTN):c.*2910C>A rs148937517 0.00041
NM_001079802.2(FKTN):c.*1249C>T rs79589823 0.00039
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00038
NM_199189.2(MATR3):c.-784G>A rs773123084 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00036
NM_001849.4(COL6A2):c.*106G>A rs185393384 0.00036
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_005138.3(SCO2):c.576C>T (p.Thr192=) rs201909075 0.00035
NM_133642.5(LARGE1):c.*796C>T rs144150303 0.00035
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) rs139399166 0.00033
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00032
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000540.3(RYR1):c.6127+3A>G rs78851466 0.00031
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_138638.5(CFL2):c.*605T>C rs138260417 0.00031
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_138638.5(CFL2):c.*905A>G rs117658440 0.00030
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00026
NM_005476.7(GNE):c.*2789G>A rs140396892 0.00026
NM_005476.7(GNE):c.-152G>T rs142004500 0.00026
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237 0.00024
NM_001267550.2(TTN):c.48461-11A>G rs371040291 0.00024
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551 0.00024
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_001173464.2(KIF21A):c.1542G>A (p.Ala514=) rs199973182 0.00021
NM_004281.4(BAG3):c.1674G>A (p.Ala558=) rs142981190 0.00021
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599 0.00021
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182 0.00020
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
NM_000540.3(RYR1):c.1123-11C>T rs3745845 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.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001289808.2(CRYAB):c.-21C>T rs376222434 0.00019
NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934 0.00019
NM_182961.4(SYNE1):c.7238-11T>C rs200802315 0.00019
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000540.3(RYR1):c.7881G>A (p.Val2627=) rs201877620 0.00018
NM_001267550.2(TTN):c.31422G>A (p.Val10474=) rs72650020 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=) rs144334894 0.00018
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_152263.4(TPM3):c.*5701C>T rs373631033 0.00018
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.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_005476.7(GNE):c.*2415T>A rs143569888 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
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.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_001101362.3(KBTBD13):c.*41C>T rs185053492 0.00016
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) rs148101254 0.00016
NM_138638.5(CFL2):c.*671C>T rs74974539 0.00016
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 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_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_000083.3(CLCN1):c.*29C>A rs202172391 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=) rs200355885 0.00014
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001267550.2(TTN):c.49648+13T>A rs368996176 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_005476.7(GNE):c.*2269C>T rs575299401 0.00014
NM_014363.6(SACS):c.*677C>T rs200375761 0.00014
NM_182914.3(SYNE2):c.*59G>A rs776787883 0.00014
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met) rs568071525 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00013
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=) rs151239950 0.00013
NM_000540.3(RYR1):c.2223C>T (p.Asp741=) rs150831055 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465 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.71883T>C (p.Val23961=) rs368692510 0.00013
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_182914.3(SYNE2):c.11549A>G (p.Asp3850Gly) rs527339341 0.00013
NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=) rs139340468 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
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.28542G>A (p.Glu9514=) rs370604793 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_003289.4(TPM2):c.*25A>C rs781513152 0.00012
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) rs201786788 0.00012
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=) rs374751877 0.00012
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534 0.00012
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890 0.00012
NM_182961.4(SYNE1):c.4008+15T>C rs368542446 0.00012
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001173464.2(KIF21A):c.162A>G (p.Val54=) rs754537818 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) rs373380202 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.54078A>T (p.Ala18026=) rs747908048 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 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.98605C>T (p.Arg32869Cys) rs186244950 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001849.4(COL6A2):c.*45G>A rs552240091 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp) rs201181493 0.00011
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070 0.00011
NM_000083.3(CLCN1):c.*30G>A rs368898705 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 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.4758G>A (p.Pro1586=) rs374222028 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.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu) rs756253502 0.00010
NM_004320.6(ATP2A1):c.-12G>A rs201334168 0.00010
NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) rs370683331 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00009
NM_000083.3(CLCN1):c.434-14A>G rs200263856 0.00009
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys) rs145677314 0.00009
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 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.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_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001164508.2(NEB):c.20893-11T>C rs201173663 0.00009
NM_001267550.2(TTN):c.*25C>T rs370597649 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.17183-7C>T rs371785683 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.29317G>A (p.Ala9773Thr) rs371163094 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.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.98989+12A>C rs72648275 0.00009
NM_001849.4(COL6A2):c.138C>T (p.His46=) rs201753549 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu) rs199700646 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_182914.3(SYNE2):c.19623C>T (p.Asp6541=) rs150366060 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669 0.00009
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193 0.00009
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541 0.00009
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=) rs201537074 0.00009
NM_182961.4(SYNE1):c.24977-5C>T rs767722883 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000540.3(RYR1):c.9093C>T (p.Ala3031=) rs140197877 0.00008
NM_001173464.2(KIF21A):c.1851G>A (p.Glu617=) rs147473938 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) rs759713604 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.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.57112-4C>T rs117072049 0.00008
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 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_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.18389+7A>T rs372337180 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.4071G>A (p.Thr1357=) rs371506443 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
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.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_001101362.3(KBTBD13):c.*699G>A rs142860231 0.00007
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) rs397517524 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) rs202098308 0.00007
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) rs766753906 0.00007
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975 0.00007
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe) rs769053787 0.00006
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 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.45G>A (p.Glu15=) rs763166498 0.00006
NM_001173464.2(KIF21A):c.3320-4A>T rs371915160 0.00006
NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met) rs781214904 0.00006
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623 0.00006
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) rs200123047 0.00006
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=) rs761965591 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862 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.48595T>C (p.Ser16199Pro) rs752629624 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.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 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.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001849.4(COL6A2):c.*105C>T rs538537601 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) rs544436881 0.00006
NM_003289.4(TPM2):c.-10C>A rs372751531 0.00006
NM_004281.4(BAG3):c.-18G>A rs754210695 0.00006
NM_004281.4(BAG3):c.-4C>T rs727502894 0.00006
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val) rs11199064 0.00006
NM_004281.4(BAG3):c.693G>A (p.Thr231=) rs144034433 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_015713.5(RRM2B):c.756G>A (p.Arg252=) rs377736828 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=) rs200893674 0.00006
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln) rs140857065 0.00006
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933 0.00006
NM_182914.3(SYNE2):c.8862G>T (p.Ala2954=) rs373930498 0.00006
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=) rs377049622 0.00006
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233 0.00006
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00006
NM_000083.3(CLCN1):c.2124C>T (p.Phe708=) rs769811983 0.00005
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys) rs187569997 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 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.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975 0.00005
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) rs147315735 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=) rs779655754 0.00005
NM_182914.3(SYNE2):c.16754G>A (p.Arg5585His) rs141144237 0.00005
NM_182914.3(SYNE2):c.19938C>T (p.Thr6646=) rs765762035 0.00005
NM_182914.3(SYNE2):c.3885C>T (p.His1295=) rs570341792 0.00005
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783 0.00005
NM_000083.3(CLCN1):c.1593G>A (p.Ala531=) rs367696668 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_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000540.3(RYR1):c.3567C>T (p.Pro1189=) rs200161205 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956 0.00004
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) rs780784090 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) rs200489972 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694 0.00004
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) rs774557269 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 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.54348A>T (p.Glu18116Asp) rs773746281 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=) rs374354363 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 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.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) rs779878975 0.00004
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479 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_001849.4(COL6A2):c.649G>A (p.Ala217Thr) rs530625182 0.00004
NM_005476.7(GNE):c.*1204T>C rs183365416 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=) rs745820221 0.00004
NM_182914.3(SYNE2):c.13281-6C>T rs376973894 0.00004
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.3639-12C>T rs750618626 0.00004
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val) rs150409035 0.00004
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698 0.00004
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279 0.00004
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln) rs200137670 0.00004
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=) rs746159592 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NC_000002.12:g.178605717T>C rs772324772 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.705C>T (p.Phe235=) rs760323048 0.00003
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531 0.00003
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.2551G>A (p.Val851Met) rs375669412 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001173464.2(KIF21A):c.568G>A (p.Val190Ile) rs141530856 0.00003
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe) rs773984912 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) rs761666344 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 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.55619T>C (p.Val18540Ala) rs779623773 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 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.64195G>A (p.Asp21399Asn) rs749018114 0.00003
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu) rs368450785 0.00003
NM_001267550.2(TTN):c.71793A>G (p.Pro23931=) rs780920316 0.00003
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680 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.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001849.4(COL6A2):c.903C>T (p.Gly301=) rs541325013 0.00003
NM_007126.5(VCP):c.384T>C (p.Gly128=) rs367703031 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_182914.3(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=) rs202084149 0.00003
NM_182914.3(SYNE2):c.19204G>A (p.Glu6402Lys) rs200971467 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397 0.00003
NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys) rs759380758 0.00003
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp) rs201873107 0.00003
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln) rs747634832 0.00003
NM_000083.3(CLCN1):c.1767C>T (p.Tyr589=) rs746535507 0.00002
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 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.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 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_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381 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.16391G>C (p.Gly5464Ala) rs377023302 0.00002
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353 0.00002
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp) rs184123332 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.28175-10C>T rs748478445 0.00002
NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys) rs778573156 0.00002
NM_001267550.2(TTN):c.33126C>T (p.Val11042=) rs72650036 0.00002
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251 0.00002
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe) rs773806020 0.00002
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466 0.00002
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=) rs371324060 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His) rs749606240 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_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=) rs200096552 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met) rs373340663 0.00002
NM_182914.3(SYNE2):c.13918-13A>G rs775576281 0.00002
NM_182914.3(SYNE2):c.14252T>C (p.Val4751Ala) rs752935094 0.00002
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu) rs145031656 0.00002
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met) rs181059522 0.00002
NM_182914.3(SYNE2):c.16760+6A>G rs756707482 0.00002
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr) rs143077670 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.6793T>C (p.Leu2265=) rs746513307 0.00002
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe) rs200570324 0.00002
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr) rs368709678 0.00002
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro) rs753335678 0.00002
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153 0.00002
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro) rs779600835 0.00002
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841 0.00002
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr) rs771599539 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 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.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00001
NM_000540.3(RYR1):c.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu) rs551223467 0.00001
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn) rs140171924 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001079802.2(FKTN):c.*777C>A rs369316426 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001101362.3(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223 0.00001
NM_001151.4(SLC25A4):c.243C>T (p.Tyr81=) rs779064025 0.00001
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685 0.00001
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=) rs775644738 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=) rs761269554 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.19994-13C>T rs775393005 0.00001
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr) rs138076523 0.00001
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg) rs375067750 0.00001
NM_001267550.2(TTN):c.30682+7T>C rs752353097 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.3386A>G (p.Lys1129Arg) rs181375012 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile) rs148808516 0.00001
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=) rs760816246 0.00001
NM_001267550.2(TTN):c.49988T>C (p.Ile16663Thr) rs774556838 0.00001
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) rs760963888 0.00001
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys) rs756341923 0.00001
NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val) rs781121273 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.68528-8T>C rs746223377 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser) rs748412838 0.00001
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=) rs747430905 0.00001
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser) rs749305586 0.00001
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) rs754175266 0.00001
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 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.87600G>C (p.Met29200Ile) rs750362675 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.91879A>G (p.Ile30627Val) rs535151633 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372 0.00001
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) rs758109676 0.00001
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_005476.7(GNE):c.*1021A>G rs10435799 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_152263.4(TPM3):c.*1152C>T rs535068015 0.00001
NM_152263.4(TPM3):c.*4940C>G rs562373211 0.00001
NM_182914.3(SYNE2):c.12352G>A (p.Glu4118Lys) rs763188798 0.00001
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295 0.00001
NM_182914.3(SYNE2):c.16480-9T>G rs776380039 0.00001
NM_182914.3(SYNE2):c.888+11A>G rs747593732 0.00001
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu) rs760727534 0.00001
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657 0.00001
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His) rs150266354 0.00001
NM_182961.4(SYNE1):c.16237-10A>T rs201078255 0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608 0.00001
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772 0.00001
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala) rs753654674 0.00001
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862 0.00001
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr) rs371609288 0.00001
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser) rs202207690 0.00001
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198 0.00001
NM_000083.3(CLCN1):c.*29C>T rs202172391
NM_000083.3(CLCN1):c.2285-15C>A rs758496771
NM_000183.3(HADHB):c.*500G>A rs538337605
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000231.3(SGCG):c.*136T>C rs3751372
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000540.3(RYR1):c.10259+10G>A rs187018043
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=) rs543458339
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.3(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_001025389.2(AMPD3):c.*1013GT[11] rs34205084
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001101362.3(KBTBD13):c.1101C>T (p.Cys367=) rs543844534
NM_001101362.3(KBTBD13):c.342C>A (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001151.4(SLC25A4):c.*1020_*1023del rs374044101
NM_001151.4(SLC25A4):c.*2436CT[1] rs375487895
NM_001151.4(SLC25A4):c.*259TAA[1] rs542820181
NM_001151.4(SLC25A4):c.*496ATCT[3] rs551018560
NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met) rs764601859
NM_001173464.2(KIF21A):c.3341-11dup rs71075059
NM_001256545.2(MEGF10):c.*3522CA[1] rs397809018
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.31548G>A (p.Glu10516=) rs777887659
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) rs768652249
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser) rs556948427
NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg) rs367751077
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) rs727505316
NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser) rs781220405
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) rs763682832
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001849.4(COL6A2):c.*147C>T rs560095085
NM_001849.4(COL6A2):c.*66C>G rs568256520
NM_001849.4(COL6A2):c.*88G>C rs369124688
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.1817-4_1817-3dup rs149954350
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_004168.3(SDHA):c.-84dup rs35805262
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005138.3(SCO2):c.-135_-132dup rs143413019
NM_005476.7(GNE):c.*277ATA[1] rs140089561
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_006657.3(FTCD):c.*127C>A rs538433909
NM_006657.3(FTCD):c.*67C>T rs139773262
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_012062.5(DNM1L):c.*393A>C rs77298476
NM_013382.7(POMT2):c.*1893G>A rs114623446
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014363.6(SACS):c.*1046CTTTA[1] rs66920661
NM_015713.5(RRM2B):c.*3003_*3004del rs552260099
NM_017547.4(FOXRED1):c.*93G>A rs114082966
NM_018834.6(MATR3):c.*1810_*1812del rs144802057
NM_018834.6(MATR3):c.*86_*89del rs368308621
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_021830.5(TWNK):c.*472GA[2] rs370783985
NM_021830.5(TWNK):c.-306GT[1] rs146265037
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_133378.4(TTN):c.26780-19dup rs397517532
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_152263.4(TPM3):c.*1130C>T rs143058197
NM_152263.4(TPM3):c.*1246_*1247dup rs72189266
NM_152263.4(TPM3):c.*2147del rs68185418
NM_152263.4(TPM3):c.*5594G>T rs550606876
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_182914.3(SYNE2):c.11550C>A (p.Asp3850Glu) rs146261323
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.15483+13G>A rs369303929
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.3(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.3(SYNE2):c.8862G>A (p.Ala2954=) rs373930498
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu) rs756840607
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met) rs550027519
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys) rs577888458
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*1890AAGA[1] rs397786204
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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