NM_018972.4(GDAP1):c.*797A>G
|
rs7007283
|
0.99395
|
NM_001605.3(AARS1):c.2715T>C (p.Val905=)
|
rs4081753
|
0.85676
|
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp)
|
rs1539567
|
0.75123
|
NM_001005373.4(LRSAM1):c.1912+5A>C
|
rs2248822
|
0.74956
|
NM_014874.4(MFN2):c.*58A>G
|
rs1042842
|
0.71104
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=)
|
rs2243906
|
0.61095
|
NM_021625.5(TRPV4):c.670A>C (p.Arg224=)
|
rs3825394
|
0.60669
|
NM_014874.4(MFN2):c.*896G>C
|
rs3088064
|
0.55119
|
NM_015074.3(KIF1B):c.*5019T>C
|
rs3748581
|
0.53815
|
NM_014874.3(MFN2):c.-212T>C
|
rs2180183
|
0.53102
|
NM_014874.3(MFN2):c.-367A>G
|
rs2236054
|
0.52635
|
NM_001605.3(AARS1):c.903C>T (p.His301=)
|
rs2070203
|
0.49332
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_001005373.4(LRSAM1):c.904-9C>T
|
rs1539568
|
0.43695
|
NM_014365.3(HSPB8):c.*644A>G
|
rs11038
|
0.34575
|
NM_018972.4(GDAP1):c.*1855A>G
|
rs6472842
|
0.30274
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_018972.4(GDAP1):c.*2214A>G
|
rs10504580
|
0.26909
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_018972.4(GDAP1):c.*1878G>T
|
rs16938896
|
0.18293
|
NM_018972.4(GDAP1):c.*357A>G
|
rs1135715
|
0.18199
|
NM_018972.4(GDAP1):c.*830C>G
|
rs4737414
|
0.18198
|
NM_001005361.3(DNM2):c.*268A>T
|
rs12461992
|
0.17591
|
NM_014365.3(HSPB8):c.*684G>A
|
rs1133026
|
0.16667
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)
|
rs3742037
|
0.14446
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_021625.5(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034
|
0.12664
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236
|
0.09556
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438
|
0.09548
|
NM_021625.5(TRPV4):c.795C>T (p.His265=)
|
rs1344554
|
0.08478
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593
|
0.08113
|
NM_001605.3(AARS1):c.671+3A>G
|
rs74024185
|
0.07668
|
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)
|
rs11537667
|
0.07667
|
NM_014874.4(MFN2):c.2204+15T>C
|
rs77262016
|
0.07571
|
NM_014365.3(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742
|
0.07444
|
NM_004637.6(RAB7A):c.*863C>G
|
rs59753334
|
0.06155
|
NM_018972.4(GDAP1):c.*1173G>T
|
rs72665430
|
0.06104
|
NM_001605.3(AARS1):c.*74A>T
|
rs11537663
|
0.05921
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_004637.6(RAB7A):c.*189A>G
|
rs11549750
|
0.05501
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_014874.4(MFN2):c.*1488C>T
|
rs11554507
|
0.05161
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_014874.4(MFN2):c.*912C>T
|
rs14305
|
0.04860
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901
|
0.04745
|
NM_014874.4(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837
|
0.04459
|
NM_014874.4(MFN2):c.*1100A>G
|
rs41278638
|
0.04352
|
NM_004637.6(RAB7A):c.219C>T (p.Leu73=)
|
rs4548
|
0.04279
|
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270
|
0.04182
|
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502
|
0.04180
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
NM_014365.3(HSPB8):c.*440C>G
|
rs13378054
|
0.03707
|
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996
|
0.03685
|
NM_004637.6(RAB7A):c.*997T>C
|
rs3755593
|
0.03614
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu)
|
rs75690855
|
0.03450
|
NM_001005361.3(DNM2):c.*385C>T
|
rs78160240
|
0.03446
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_014365.3(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028
|
0.03035
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_002047.2(GARS1):c.-205C>T
|
rs17159262
|
0.03007
|
NM_002047.2(GARS1):c.-217A>G
|
rs2970504
|
0.02929
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_014365.3(HSPB8):c.-193T>C
|
rs11549401
|
0.02683
|
NM_018972.4(GDAP1):c.*1647C>T
|
rs115466662
|
0.02649
|
NM_001540.5(HSPB1):c.*11C>T
|
rs1058872
|
0.02598
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216
|
0.02416
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
NM_014874.4(MFN2):c.*1161C>A
|
rs115706485
|
0.02302
|
NM_014874.4(MFN2):c.*1576C>T
|
rs78523898
|
0.02185
|
NM_014874.4(MFN2):c.*730C>T
|
rs112550280
|
0.02163
|
NM_001005373.4(LRSAM1):c.1830+6C>T
|
rs75171318
|
0.01846
|
NM_004637.6(RAB7A):c.*206G>A
|
rs16851333
|
0.01808
|
NM_002047.2(GARS1):c.-317G>A
|
rs116125961
|
0.01714
|
NM_014874.4(MFN2):c.*231G>A
|
rs41278636
|
0.01666
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_021625.5(TRPV4):c.387-4C>T
|
rs12305439
|
0.01630
|
NM_014874.4(MFN2):c.*777T>C
|
rs112854268
|
0.01628
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770
|
0.01578
|
NM_001005373.4(LRSAM1):c.-316C>T
|
rs116498902
|
0.01548
|
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641
|
0.01523
|
NM_014365.3(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602
|
0.01515
|
NM_004637.6(RAB7A):c.-97C>G
|
rs141622970
|
0.01485
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_014874.4(MFN2):c.2205-13C>A
|
rs76020240
|
0.01362
|
NM_004637.6(RAB7A):c.-29G>T
|
rs112000804
|
0.01334
|
NM_001605.3(AARS1):c.*251A>C
|
rs116553521
|
0.01298
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382
|
0.01064
|
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709
|
0.00971
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196
|
0.00962
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_001005361.3(DNM2):c.1782-11C>T
|
rs78580529
|
0.00921
|
NM_014874.4(MFN2):c.*304A>G
|
rs80118679
|
0.00841
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054
|
0.00771
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)
|
rs149377346
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_018972.4(GDAP1):c.*561C>G
|
rs80136809
|
0.00699
|
NM_014365.3(HSPB8):c.*581G>A
|
rs56754798
|
0.00690
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
NM_002047.4(GARS1):c.*73A>G
|
rs113598818
|
0.00687
|
NM_021625.5(TRPV4):c.1341C>T (p.His447=)
|
rs57316123
|
0.00683
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688
|
0.00646
|
NM_002047.2(GARS1):c.-225G>A
|
rs148593022
|
0.00641
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_001005361.3(DNM2):c.1196+773C>T
|
rs150975494
|
0.00628
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_014874.4(MFN2):c.744C>T (p.Leu248=)
|
rs61733205
|
0.00591
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=)
|
rs34426300
|
0.00573
|
NM_001540.4(HSPB1):c.-46C>T
|
rs35907174
|
0.00569
|
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)
|
rs151091410
|
0.00568
|
NM_021625.5(TRPV4):c.*423G>A
|
rs151286044
|
0.00565
|
NM_001005361.3(DNM2):c.*47G>A
|
rs367938944
|
0.00550
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611
|
0.00542
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_001005373.4(LRSAM1):c.1044-9T>C
|
rs59501881
|
0.00523
|
NM_018972.4(GDAP1):c.*2244T>C
|
rs113763295
|
0.00513
|
NM_002047.4(GARS1):c.*67C>G
|
rs142498676
|
0.00506
|
NM_018972.4(GDAP1):c.*920C>G
|
rs6982840
|
0.00506
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859
|
0.00486
|
NM_018972.4(GDAP1):c.*61C>T
|
rs73345399
|
0.00483
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436
|
0.00446
|
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858
|
0.00446
|
NM_002047.2(GARS1):c.-177T>C
|
rs78980639
|
0.00437
|
NM_014874.4(MFN2):c.*1034C>T
|
rs56333319
|
0.00427
|
NM_004637.6(RAB7A):c.*163T>G
|
rs182521602
|
0.00395
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_002047.2(GARS1):c.-280G>A
|
rs73294431
|
0.00364
|
NM_001005361.3(DNM2):c.236-8C>G
|
rs143084059
|
0.00361
|
NM_001005361.3(DNM2):c.519T>C (p.Ala173=)
|
rs77702567
|
0.00359
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_014874.4(MFN2):c.975C>T (p.Gly325=)
|
rs141475476
|
0.00357
|
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met)
|
rs140786088
|
0.00342
|
NM_004637.6(RAB7A):c.495G>A (p.Ala165=)
|
rs146566121
|
0.00341
|
NM_014874.4(MFN2):c.*1830C>T
|
rs74609163
|
0.00341
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_001005361.3(DNM2):c.*671T>C
|
rs190696940
|
0.00325
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_001540.4(HSPB1):c.-56C>T
|
rs35759978
|
0.00306
|
NM_021625.5(TRPV4):c.*378G>C
|
rs538255561
|
0.00305
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_005572.3(LMNA):c.-223C>T
|
rs188625872
|
0.00284
|
NM_001005373.4(LRSAM1):c.*57G>A
|
rs549468112
|
0.00273
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00260
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280
|
0.00210
|
NM_004637.6(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751
|
0.00210
|
NM_021625.5(TRPV4):c.*365C>T
|
rs184413363
|
0.00210
|
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892
|
0.00191
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_021625.5(TRPV4):c.*230G>A
|
rs181542514
|
0.00171
|
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
NM_001605.3(AARS1):c.*141A>G
|
rs576707006
|
0.00161
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956
|
0.00149
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552
|
0.00137
|
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127
|
0.00133
|
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657
|
0.00125
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165
|
0.00125
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_014874.4(MFN2):c.165C>T (p.Thr55=)
|
rs77458527
|
0.00106
|
NM_021625.5(TRPV4):c.*486T>C
|
rs79157363
|
0.00103
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00102
|
NM_002047.2(GARS1):c.-69T>A
|
rs527307703
|
0.00098
|
NM_001605.3(AARS1):c.1332G>A (p.Glu444=)
|
rs150442667
|
0.00096
|
NM_014874.4(MFN2):c.150C>A (p.Ile50=)
|
rs78841746
|
0.00089
|
NM_001605.3(AARS1):c.2608-6C>A
|
rs200965527
|
0.00088
|
NM_014874.4(MFN2):c.891C>T (p.Ala297=)
|
rs11554508
|
0.00087
|
NM_001005361.3(DNM2):c.*607G>A
|
rs117954916
|
0.00085
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_021625.5(TRPV4):c.*190C>T
|
rs141636597
|
0.00077
|
NM_014874.4(MFN2):c.*1546G>A
|
rs3737960
|
0.00074
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00072
|
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712
|
0.00067
|
NM_014874.4(MFN2):c.-4-13G>T
|
rs373679523
|
0.00060
|
NM_014874.4(MFN2):c.1495+9C>T
|
rs375494746
|
0.00059
|
NM_021625.5(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793
|
0.00058
|
NM_018972.4(GDAP1):c.*2463A>G
|
rs9643686
|
0.00052
|
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674
|
0.00043
|
NM_001605.3(AARS1):c.1428G>C (p.Arg476=)
|
rs80257731
|
0.00041
|
NM_004637.6(RAB7A):c.87G>A (p.Val29=)
|
rs145441548
|
0.00039
|
NM_001605.3(AARS1):c.741G>A (p.Leu247=)
|
rs148075561
|
0.00038
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001005361.3(DNM2):c.*10G>A
|
rs200188660
|
0.00029
|
NM_018972.4(GDAP1):c.*1429A>G
|
rs78545774
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669
|
0.00027
|
NM_001005361.3(DNM2):c.*321A>G
|
rs149937994
|
0.00026
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_004637.6(RAB7A):c.*625T>C
|
rs545004919
|
0.00025
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_004637.5(RAB7A):c.-215C>T
|
rs560785742
|
0.00022
|
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590
|
0.00021
|
NM_014365.2(HSPB8):c.-457A>G
|
rs564088535
|
0.00021
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001605.3(AARS1):c.561C>T (p.Cys187=)
|
rs78523270
|
0.00019
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00018
|
NM_001005361.3(DNM2):c.*453C>T
|
rs200104482
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
|
rs147579870
|
0.00015
|
NM_001005361.3(DNM2):c.1423-12G>A
|
rs376753915
|
0.00014
|
NM_014874.4(MFN2):c.474+4A>G
|
rs141974160
|
0.00014
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_001005361.3(DNM2):c.*14C>T
|
rs369529119
|
0.00010
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00010
|
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138
|
0.00009
|
NM_001005361.3(DNM2):c.555C>T (p.Asp185=)
|
rs140788791
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_004637.6(RAB7A):c.-115C>T
|
rs374777610
|
0.00009
|
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296
|
0.00007
|
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
rs140791936
|
0.00007
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103
|
0.00006
|
NM_001005361.3(DNM2):c.450A>G (p.Pro150=)
|
rs766121627
|
0.00006
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00006
|
NM_001005373.4(LRSAM1):c.619+13C>T
|
rs148704769
|
0.00005
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
NM_014874.4(MFN2):c.176-7C>T
|
rs374055101
|
0.00004
|
NM_001005361.3(DNM2):c.*601C>T
|
rs185820576
|
0.00003
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
0.00003
|
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)
|
rs771059047
|
0.00003
|
NM_004637.6(RAB7A):c.*1374G>A
|
rs539522952
|
0.00003
|
NM_014874.4(MFN2):c.*1562G>A
|
rs551566332
|
0.00003
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001005361.3(DNM2):c.1671+14G>A
|
rs767768534
|
0.00002
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905
|
0.00001
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
NM_014874.4(MFN2):c.*226C>T
|
rs184254413
|
0.00001
|
NM_014874.4(MFN2):c.1806C>T (p.Ser602=)
|
rs201258935
|
0.00001
|
NM_001005361.3(DNM2):c.*22C>T
|
rs531170486
|
|
NM_001005361.3(DNM2):c.*35C>G
|
rs199700849
|
|
NM_001005361.3(DNM2):c.*386G>C
|
rs74952080
|
|
NM_001005361.3(DNM2):c.162-7C>A
|
rs148318860
|
|
NM_001365951.3(KIF1B):c.*249CA[15]
|
rs111663673
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001540.5(HSPB1):c.365-7C>T
|
rs201897299
|
|
NM_004637.6(RAB7A):c.*229C>T
|
rs147244704
|
|
NM_004637.6(RAB7A):c.*846A>G
|
rs532629721
|
|
NM_014365.3(HSPB8):c.*616C>G
|
rs6413487
|
|
NM_014365.3(HSPB8):c.*616C>T
|
rs6413487
|
|
NM_014874.4(MFN2):c.*1258G>A
|
rs116156978
|
|
NM_014874.4(MFN2):c.-80C>T
|
rs7538183
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|