NM_001370298.3(FGD4):c.*3920del
|
rs144034303
|
0.09005
|
NM_024577.4(SH3TC2):c.*21472A>G
|
rs59731646
|
0.03434
|
NM_006096.4(NDRG1):c.*1622T>G
|
rs7825439
|
0.02986
|
NM_014874.4(MFN2):c.-149-15T>G
|
rs114306601
|
0.02587
|
NM_018972.4(GDAP1):c.*2408G>A
|
rs11996204
|
0.02523
|
NR_039718.1(MIR4497):n.66C>T
|
rs56079803
|
0.02373
|
NM_006096.4(NDRG1):c.*264C>G
|
rs73711834
|
0.02269
|
NM_014874.4(MFN2):c.159C>T (p.Ser53=)
|
rs61733200
|
0.02240
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129
|
0.01960
|
NM_014874.3(MFN2):c.-249T>A
|
rs2180182
|
0.01549
|
NM_014874.3(MFN2):c.-287C>T
|
rs2180181
|
0.01549
|
NM_024577.4(SH3TC2):c.*7810T>A
|
rs57517567
|
0.01532
|
NM_001370298.3(FGD4):c.1954-8T>C
|
rs115061722
|
0.01466
|
NM_181882.3(PRX):c.731C>T (p.Ala244Val)
|
rs118071705
|
0.01410
|
NM_006096.4(NDRG1):c.*653T>C
|
rs147301529
|
0.01388
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_000530.8(MPZ):c.*568C>G
|
rs60731755
|
0.01265
|
NM_024577.4(SH3TC2):c.*4279C>G
|
rs74578025
|
0.01256
|
NM_006096.4(NDRG1):c.306C>T (p.Gly102=)
|
rs2233322
|
0.01251
|
NM_006096.4(NDRG1):c.507G>A (p.Ala169=)
|
rs2233331
|
0.01225
|
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)
|
rs79251068
|
0.01066
|
NM_024577.4(SH3TC2):c.*8533A>G
|
rs139372772
|
0.00891
|
NM_024577.4(SH3TC2):c.*12807G>A
|
rs150317192
|
0.00846
|
NM_000530.8(MPZ):c.*195G>T
|
rs150182811
|
0.00828
|
NM_024577.4(SH3TC2):c.*16947C>T
|
rs142551288
|
0.00770
|
NM_024577.4(SH3TC2):c.*4052T>C
|
rs147125913
|
0.00707
|
NM_000530.8(MPZ):c.*1048A>T
|
rs71639057
|
0.00663
|
NM_024577.4(SH3TC2):c.*15489G>A
|
rs115194965
|
0.00652
|
NM_024577.4(SH3TC2):c.*6470T>C
|
rs185164450
|
0.00616
|
NM_018972.4(GDAP1):c.*1162T>C
|
rs113017051
|
0.00611
|
NM_024577.4(SH3TC2):c.*16395G>T
|
rs116508083
|
0.00567
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_018972.4(GDAP1):c.*723G>A
|
rs116863614
|
0.00512
|
NM_018972.4(GDAP1):c.*1819T>C
|
rs141157275
|
0.00466
|
NM_024577.4(SH3TC2):c.*6600T>C
|
rs115541211
|
0.00464
|
NM_024577.4(SH3TC2):c.*20512C>A
|
rs76577532
|
0.00463
|
NM_001370298.3(FGD4):c.*3367G>T
|
rs188648275
|
0.00457
|
NM_024577.4(SH3TC2):c.*16169G>A
|
rs191600511
|
0.00417
|
NM_001370298.3(FGD4):c.*3676A>G
|
rs189489067
|
0.00409
|
NM_016156.6(MTMR2):c.*1684A>C
|
rs79576160
|
0.00401
|
NM_016156.6(MTMR2):c.570+11T>C
|
rs182582445
|
0.00390
|
NM_024577.4(SH3TC2):c.*8277G>A
|
rs147532508
|
0.00387
|
NM_024577.4(SH3TC2):c.*3061A>G
|
rs138823547
|
0.00372
|
NM_001370298.3(FGD4):c.*2103A>G
|
rs55963204
|
0.00370
|
NM_018972.4(GDAP1):c.*1006C>T
|
rs145523828
|
0.00367
|
NM_024577.4(SH3TC2):c.*21786G>A
|
rs6890482
|
0.00357
|
NM_024577.4(SH3TC2):c.*6301C>T
|
rs188143654
|
0.00337
|
NM_024577.4(SH3TC2):c.*18606T>G
|
rs182775401
|
0.00336
|
NM_024577.4(SH3TC2):c.*12550A>G
|
rs137953180
|
0.00330
|
NM_016156.6(MTMR2):c.*837G>A
|
rs532069328
|
0.00323
|
NM_024577.4(SH3TC2):c.*3079G>A
|
rs185297430
|
0.00322
|
NM_024577.4(SH3TC2):c.*6047T>A
|
rs139490756
|
0.00322
|
NM_024577.4(SH3TC2):c.*7918C>T
|
rs148732819
|
0.00322
|
NM_181882.3(PRX):c.-236G>A
|
rs552436076
|
0.00317
|
NM_024577.4(SH3TC2):c.*13204A>G
|
rs141603977
|
0.00315
|
NM_024577.4(SH3TC2):c.*5536T>G
|
rs146756049
|
0.00315
|
NM_024577.4(SH3TC2):c.*16784C>T
|
rs144720540
|
0.00314
|
NM_024577.4(SH3TC2):c.*1750C>T
|
rs146276637
|
0.00314
|
NM_024577.4(SH3TC2):c.*5947C>G
|
rs143516557
|
0.00314
|
NM_024577.4(SH3TC2):c.*13230C>T
|
rs138600983
|
0.00313
|
NM_024577.4(SH3TC2):c.*20142A>G
|
rs189978591
|
0.00313
|
NM_024577.4(SH3TC2):c.*22212G>A
|
rs149300520
|
0.00313
|
NM_024577.4(SH3TC2):c.*11010A>G
|
rs114735628
|
0.00312
|
NM_001370298.3(FGD4):c.*4497G>A
|
rs367545740
|
0.00303
|
NM_001540.5(HSPB1):c.*22C>T
|
rs557532119
|
0.00300
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_024577.4(SH3TC2):c.*4298C>T
|
rs145849837
|
0.00296
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_024577.4(SH3TC2):c.*13352G>A
|
rs192178726
|
0.00295
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_016156.6(MTMR2):c.*2187A>G
|
rs141738388
|
0.00241
|
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)
|
rs151083690
|
0.00230
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)
|
rs112327353
|
0.00216
|
NM_001605.3(AARS1):c.*213C>T
|
rs150625194
|
0.00211
|
NM_030962.4(SBF2):c.*112G>A
|
rs144513995
|
0.00201
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)
|
rs147319762
|
0.00180
|
NM_001370298.3(FGD4):c.*167G>A
|
rs138847108
|
0.00176
|
NM_001370298.3(FGD4):c.*4028A>G
|
rs75608969
|
0.00175
|
NM_001370298.3(FGD4):c.*4585T>A
|
rs140048835
|
0.00175
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)
|
rs111967328
|
0.00167
|
NM_024577.4(SH3TC2):c.*22357T>C
|
rs191754280
|
0.00158
|
NM_001365951.3(KIF1B):c.-260C>T
|
rs149705989
|
0.00154
|
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386
|
0.00144
|
NM_181882.3(PRX):c.*144C>T
|
rs189487790
|
0.00143
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_024577.4(SH3TC2):c.*13645C>T
|
rs180704051
|
0.00133
|
NM_024577.4(SH3TC2):c.*797A>G
|
rs140821223
|
0.00133
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510
|
0.00132
|
NM_024577.4(SH3TC2):c.*2081T>G
|
rs543206033
|
0.00127
|
NM_024577.4(SH3TC2):c.*18476T>C
|
rs185251230
|
0.00125
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_001370298.3(FGD4):c.*2638A>G
|
rs193167910
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183
|
0.00108
|
NM_014874.4(MFN2):c.408A>T (p.Val136=)
|
rs78814413
|
0.00106
|
NM_024577.4(SH3TC2):c.*2987C>T
|
rs565331463
|
0.00106
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_024577.4(SH3TC2):c.*2269G>T
|
rs575693285
|
0.00103
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_024577.4(SH3TC2):c.*9361C>T
|
rs573872364
|
0.00096
|
NM_024577.4(SH3TC2):c.*19002A>G
|
rs546701780
|
0.00091
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_024577.4(SH3TC2):c.*711A>C
|
rs567593663
|
0.00079
|
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_024577.4(SH3TC2):c.*16378C>A
|
rs144423228
|
0.00077
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910
|
0.00074
|
NM_024577.4(SH3TC2):c.*4713G>A
|
rs191742061
|
0.00074
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)
|
rs76784113
|
0.00069
|
NM_024577.4(SH3TC2):c.*11427G>A
|
rs535822101
|
0.00067
|
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=)
|
rs140336379
|
0.00065
|
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652
|
0.00065
|
NM_001005373.4(LRSAM1):c.406+15G>T
|
rs201808404
|
0.00064
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313
|
0.00063
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027
|
0.00059
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_001136472.2(LITAF):c.377+13C>G
|
rs200357430
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
0.00058
|
NM_024577.4(SH3TC2):c.*6993T>C
|
rs563203537
|
0.00057
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857
|
0.00056
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_001605.3(AARS1):c.600C>T (p.Ala200=)
|
rs150080663
|
0.00056
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_001136472.2(LITAF):c.6G>A (p.Ser2=)
|
rs147187481
|
0.00052
|
NM_024577.4(SH3TC2):c.*1765G>C
|
rs144178710
|
0.00052
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_170707.4(LMNA):c.-128T>C
|
rs80356803
|
0.00051
|
NM_024577.4(SH3TC2):c.*9953C>T
|
rs535186520
|
0.00046
|
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser)
|
rs148059394
|
0.00045
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756
|
0.00045
|
NM_001605.3(AARS1):c.2178-14G>A
|
rs371633904
|
0.00045
|
NM_001370298.3(FGD4):c.*4831C>T
|
rs145433607
|
0.00044
|
NM_024577.4(SH3TC2):c.*7939C>A
|
rs144288040
|
0.00044
|
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu)
|
rs115861965
|
0.00043
|
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418
|
0.00043
|
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met)
|
rs570675468
|
0.00042
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_024577.4(SH3TC2):c.*6350G>A
|
rs184940808
|
0.00041
|
NM_024577.4(SH3TC2):c.*6820T>C
|
rs60176324
|
0.00041
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339
|
0.00039
|
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg)
|
rs140151379
|
0.00039
|
NM_006158.5(NEFL):c.*436T>G
|
rs542234603
|
0.00038
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447
|
0.00035
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_024577.4(SH3TC2):c.*837G>A
|
rs565462353
|
0.00033
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_000530.8(MPZ):c.*743C>T
|
rs140992541
|
0.00031
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
NM_016156.6(MTMR2):c.*1089C>G
|
rs147982779
|
0.00031
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)
|
rs147187788
|
0.00030
|
NM_024577.4(SH3TC2):c.*21728T>C
|
rs142485824
|
0.00030
|
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=)
|
rs199887448
|
0.00029
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_024577.4(SH3TC2):c.*12509T>C
|
rs550901114
|
0.00028
|
NM_001370298.3(FGD4):c.*5244G>A
|
rs186014657
|
0.00027
|
NM_001376.5(DYNC1H1):c.-13C>G
|
rs537857759
|
0.00026
|
NM_006096.4(NDRG1):c.*1473G>A
|
rs187466317
|
0.00026
|
NM_021625.5(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510
|
0.00026
|
NM_018972.4(GDAP1):c.*1701T>C
|
rs781146378
|
0.00025
|
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)
|
rs201241092
|
0.00025
|
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668
|
0.00024
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_001605.3(AARS1):c.2217C>T (p.Ile739=)
|
rs770980206
|
0.00022
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810
|
0.00021
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135
|
0.00021
|
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)
|
rs117860293
|
0.00021
|
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln)
|
rs142782210
|
0.00020
|
NM_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871
|
0.00019
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
NM_001136472.2(LITAF):c.241G>A (p.Val81Met)
|
rs201653834
|
0.00018
|
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp)
|
rs201337455
|
0.00018
|
NM_001005373.4(LRSAM1):c.*590T>C
|
rs139260397
|
0.00017
|
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835
|
0.00017
|
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
NM_024577.4(SH3TC2):c.*12189C>T
|
rs192729911
|
0.00017
|
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)
|
rs191964053
|
0.00017
|
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)
|
rs140532785
|
0.00016
|
NM_021625.5(TRPV4):c.1658+15C>T
|
rs200083069
|
0.00016
|
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114
|
0.00015
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563
|
0.00014
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479
|
0.00014
|
NM_014874.4(MFN2):c.-161G>A
|
rs140094248
|
0.00014
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519
|
0.00013
|
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
|
rs750251152
|
0.00013
|
NM_030962.4(SBF2):c.*1091G>A
|
rs182391972
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_001605.3(AARS1):c.1671+10C>T
|
rs184240527
|
0.00012
|
NM_001605.3(AARS1):c.2592C>T (p.Ser864=)
|
rs11537665
|
0.00012
|
NM_001005373.4(LRSAM1):c.751-8C>G
|
rs367823841
|
0.00011
|
NM_001136472.2(LITAF):c.*1853A>G
|
rs759832566
|
0.00011
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
NM_001605.3(AARS1):c.1509G>A (p.Val503=)
|
rs138406510
|
0.00011
|
NM_004637.6(RAB7A):c.552C>T (p.Asn184=)
|
rs143140848
|
0.00011
|
NM_014874.4(MFN2):c.*26G>A
|
rs374800481
|
0.00011
|
NM_001605.3(AARS1):c.1410C>T (p.Ile470=)
|
rs79785372
|
0.00010
|
NM_001605.3(AARS1):c.2730C>T (p.Ala910=)
|
rs199839663
|
0.00010
|
NM_014874.4(MFN2):c.*1706T>G
|
rs543365043
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_024577.4(SH3TC2):c.*10875T>C
|
rs184560843
|
0.00010
|
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069
|
0.00010
|
NM_181882.3(PRX):c.1836C>T (p.Ala612=)
|
rs574899855
|
0.00010
|
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)
|
rs373570877
|
0.00009
|
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=)
|
rs199997686
|
0.00009
|
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=)
|
rs147205387
|
0.00009
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799
|
0.00009
|
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)
|
rs373326652
|
0.00009
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002047.4(GARS1):c.882-15T>G
|
rs199741850
|
0.00008
|
NM_006158.5(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413
|
0.00008
|
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889
|
0.00008
|
NM_030962.4(SBF2):c.5231+14C>T
|
rs371184526
|
0.00008
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128
|
0.00007
|
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)
|
rs529095936
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932
|
0.00007
|
NM_024577.4(SH3TC2):c.*4446G>C
|
rs186152591
|
0.00007
|
NM_001136472.2(LITAF):c.147G>A (p.Thr49=)
|
rs145659732
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)
|
rs181251337
|
0.00006
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
0.00006
|
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151
|
0.00006
|
NM_004637.6(RAB7A):c.*1141C>T
|
rs192329045
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)
|
rs142656819
|
0.00006
|
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His)
|
rs368689811
|
0.00005
|
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436
|
0.00005
|
NM_014874.4(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp)
|
rs763390117
|
0.00004
|
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu)
|
rs145382004
|
0.00004
|
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179
|
0.00004
|
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=)
|
rs200527839
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001605.3(AARS1):c.2700G>A (p.Thr900=)
|
rs140814462
|
0.00004
|
NM_014874.4(MFN2):c.522T>C (p.His174=)
|
rs762789747
|
0.00004
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)
|
rs140040335
|
0.00004
|
NM_021625.5(TRPV4):c.936G>A (p.Ala312=)
|
rs202084699
|
0.00004
|
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760
|
0.00003
|
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660
|
0.00003
|
NM_001005361.3(DNM2):c.750A>G (p.Ala250=)
|
rs202214529
|
0.00003
|
NM_001005373.4(LRSAM1):c.1504-5C>G
|
rs377190920
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330
|
0.00003
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046
|
0.00003
|
NM_006096.4(NDRG1):c.*377G>A
|
rs377385607
|
0.00003
|
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
|
rs199775873
|
0.00003
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
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_181882.3(PRX):c.2775C>T (p.Val925=)
|
rs201792838
|
0.00003
|
NM_181882.3(PRX):c.493C>T (p.Arg165Cys)
|
rs555499679
|
0.00003
|
NM_000399.5(EGR2):c.-1A>G
|
rs553201646
|
0.00002
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609
|
0.00002
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
rs201971718
|
0.00002
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694
|
0.00002
|
NM_001540.5(HSPB1):c.498G>A (p.Glu166=)
|
rs148357753
|
0.00002
|
NM_003680.4(YARS1):c.684+3A>G
|
rs375332060
|
0.00002
|
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
|
rs758305388
|
0.00002
|
NM_014365.3(HSPB8):c.48G>A (p.Leu16=)
|
rs755586270
|
0.00002
|
NM_014874.4(MFN2):c.1818C>T (p.Gly606=)
|
rs373843969
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679
|
0.00001
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200
|
0.00001
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289
|
0.00001
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090
|
0.00001
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
rs549582489
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)
|
rs148659998
|
0.00001
|
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)
|
rs775476419
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)
|
rs28940296
|
0.00001
|
NM_014874.4(MFN2):c.2204+13C>T
|
rs200441797
|
0.00001
|
NM_016156.6(MTMR2):c.240A>C (p.Pro80=)
|
rs201920176
|
0.00001
|
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)
|
rs189872222
|
0.00001
|
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101
|
0.00001
|
NM_024577.4(SH3TC2):c.*12637A>G
|
rs536941130
|
0.00001
|
NM_024577.4(SH3TC2):c.*2341A>G
|
rs531168193
|
0.00001
|
NM_024577.4(SH3TC2):c.*6302T>A
|
rs545169695
|
0.00001
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
NM_000530.8(MPZ):c.-49C>A
|
rs750777955
|
|
NM_001005373.4(LRSAM1):c.*105del
|
rs200242834
|
|
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)
|
rs202166023
|
|
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys)
|
rs201284198
|
|
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn)
|
rs551957380
|
|
NM_001365951.3(KIF1B):c.*4127dup
|
rs548680591
|
|
NM_001365951.3(KIF1B):c.*4279dup
|
rs531640427
|
|
NM_001365951.3(KIF1B):c.-26TA[7]
|
rs34063243
|
|
NM_001370298.3(FGD4):c.*4014C>A
|
rs187562428
|
|
NM_001370298.3(FGD4):c.167-62037C>A
|
rs79370524
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
|
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242
|
|
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
|
rs765197724
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001605.3(AARS1):c.1737C>T (p.Ile579=)
|
rs144323646
|
|
NM_001605.3(AARS1):c.1824G>A (p.Thr608=)
|
rs199644417
|
|
NM_002047.4(GARS1):c.*145del
|
rs529035174
|
|
NM_002047.4(GARS1):c.*36del
|
rs758974790
|
|
NM_002047.4(GARS1):c.-36C>A
|
rs531483802
|
|
NM_004637.6(RAB7A):c.*1026G>A
|
rs376185459
|
|
NM_004637.6(RAB7A):c.*997del
|
rs371200521
|
|
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
|
rs554279852
|
|
NM_014365.3(HSPB8):c.*848TAA[9]
|
rs60924821
|
|
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818
|
|
NM_014874.4(MFN2):c.*221_*222dup
|
rs558848411
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.1950G>A (p.Leu650=)
|
rs772030424
|
|
NM_018972.4(GDAP1):c.*1639A>G
|
rs145245478
|
|
NM_018972.4(GDAP1):c.*1639A>T
|
rs145245478
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.760G>A (p.Val254Met)
|
rs143548402
|
|
NM_024577.4(SH3TC2):c.*12108_*12110del
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*14188C>T
|
rs532583447
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*20099T>C
|
rs73795728
|
|
NM_024577.4(SH3TC2):c.*20564A>T
|
rs150905092
|
|
NM_024577.4(SH3TC2):c.*21474AAAC[2]
|
rs146796490
|
|
NM_024577.4(SH3TC2):c.*22035G>A
|
rs544954149
|
|
NM_024577.4(SH3TC2):c.*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*5020C>T
|
rs371723580
|
|
NM_024577.4(SH3TC2):c.*858_*861del
|
rs5872107
|
|
NM_024577.4(SH3TC2):c.*8622del
|
rs562125931
|
|
NM_030962.4(SBF2):c.2611-35AATC[4]
|
rs202029370
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|