NM_001303.3(COX10):c.-112G>A
|
rs6502330
|
0.99477
|
NM_018972.4(GDAP1):c.*797A>G
|
rs7007283
|
0.99395
|
NM_001127649.3(PEX26):c.*2281T>C
|
rs362209
|
0.99208
|
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=)
|
rs721186
|
0.99062
|
NM_001370298.3(FGD4):c.*4991A>G
|
rs1239830
|
0.98871
|
NM_002618.4(PEX13):c.*358G>A
|
rs1177230
|
0.98833
|
NM_000318.3(PEX2):c.*1194A>G
|
rs4311633
|
0.98172
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_024577.4(SH3TC2):c.*3136G>A
|
rs1019927
|
0.97931
|
NM_020312.4(COQ9):c.*490T>C
|
rs223870
|
0.97315
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_000153.4(GALC):c.1834+5C>G
|
rs448805
|
0.95475
|
NM_004863.4(SPTLC2):c.*3612T>A
|
rs2364160
|
0.95467
|
NM_000153.4(GALC):c.*989G>A
|
rs370559
|
0.95463
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
NM_000153.4(GALC):c.*627A>G
|
rs413750
|
0.95456
|
NM_004863.4(SPTLC2):c.*4645A>G
|
rs10132095
|
0.95264
|
NM_000318.3(PEX2):c.*2377A>G
|
rs4388434
|
0.94963
|
NM_000318.3(PEX2):c.*727T>C
|
rs4610720
|
0.94956
|
NM_012073.5(CCT5):c.*1172G>T
|
rs2578638
|
0.93037
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val)
|
rs2627223
|
0.89112
|
NM_001127649.3(PEX26):c.*2051A>G
|
rs361946
|
0.88398
|
NM_001127649.3(PEX26):c.*987T>C
|
rs361807
|
0.88380
|
NM_030962.4(SBF2):c.4571-6C>T
|
rs2645029
|
0.88084
|
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)
|
rs1800431
|
0.87890
|
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
|
rs4777502
|
0.87885
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
NM_001605.3(AARS1):c.2715T>C (p.Val905=)
|
rs4081753
|
0.85676
|
NM_000286.3(PEX12):c.-428T>C
|
rs321600
|
0.84193
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
NM_004376.5(COX15):c.*3566C>T
|
rs2300983
|
0.83937
|
NM_006096.4(NDRG1):c.*956T>C
|
rs1049697
|
0.83830
|
NM_004863.4(SPTLC2):c.*4673_*4674insTG
|
rs58831828
|
0.83371
|
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=)
|
rs2364602
|
0.83233
|
NM_000274.3(OAT):c.-94T>G
|
rs4144117
|
0.82728
|
NM_000274.4(OAT):c.648+14A>G
|
rs9422807
|
0.81973
|
NM_003630.3(PEX3):c.*319A>T
|
rs223234
|
0.81061
|
NM_003477.3(PDHX):c.*644C>A
|
rs7808
|
0.80809
|
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)
|
rs31303
|
0.79100
|
NM_004813.4(PEX16):c.873T>C (p.Tyr291=)
|
rs1132349
|
0.79011
|
NM_003477.3(PDHX):c.63C>T (p.Pro21=)
|
rs2956109
|
0.78720
|
NM_003477.2(PDHX):c.-302A>G
|
rs2956112
|
0.78475
|
NM_000487.6(ARSA):c.*919A>G
|
rs5770805
|
0.78412
|
NM_006158.5(NEFL):c.*1256G>A
|
rs2979704
|
0.77789
|
NM_024577.4(SH3TC2):c.*15823T>C
|
rs4562031
|
0.77381
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_024577.4(SH3TC2):c.*19919T>C
|
rs2217638
|
0.77125
|
NM_024577.4(SH3TC2):c.*18554G>T
|
rs10040598
|
0.76741
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)
|
rs560096
|
0.76511
|
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)
|
rs2430347
|
0.76291
|
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_024577.4(SH3TC2):c.*16950T>C
|
rs10040798
|
0.76017
|
NM_002180.3(IGHMBP2):c.*255T>C
|
rs564244
|
0.75917
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)
|
rs4766309
|
0.75219
|
NM_004863.4(SPTLC2):c.*3524A>C
|
rs1063270
|
0.75189
|
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp)
|
rs1539567
|
0.75123
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_001005373.4(LRSAM1):c.1912+5A>C
|
rs2248822
|
0.74956
|
NM_012073.5(CCT5):c.*593A>G
|
rs2578640
|
0.74295
|
NM_004863.4(SPTLC2):c.*3637G>A
|
rs1063271
|
0.74276
|
NM_012073.5(CCT5):c.426T>C (p.Arg142=)
|
rs1042392
|
0.74241
|
NM_012073.5(CCT5):c.-23G>A
|
rs2548546
|
0.74239
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
NM_004863.4(SPTLC2):c.*2302A>G
|
rs11159269
|
0.73771
|
NM_012073.5(CCT5):c.*67A>G
|
rs544
|
0.73487
|
NM_012073.5(CCT5):c.*181C>T
|
rs699113
|
0.73464
|
NM_012073.5(CCT5):c.*567G>A
|
rs2607286
|
0.73457
|
NM_012073.5(CCT5):c.198A>G (p.Gly66=)
|
rs2578617
|
0.73455
|
NM_012073.5(CCT5):c.1317+10C>A
|
rs2578642
|
0.73429
|
NM_012073.5(CCT5):c.*383A>G
|
rs2662533
|
0.73426
|
NM_012073.5(CCT5):c.-10T>C
|
rs2578618
|
0.73426
|
NM_000520.6(HEXA):c.*589T>G
|
rs11629508
|
0.73205
|
NM_000520.6(HEXA):c.*515G>A
|
rs3087652
|
0.73188
|
NM_000925.4(PDHB):c.*296C>G
|
rs7231
|
0.72833
|
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=)
|
rs162848
|
0.71313
|
NM_012073.5(CCT5):c.*824C>G
|
rs2578639
|
0.71210
|
NM_014874.4(MFN2):c.*58A>G
|
rs1042842
|
0.71104
|
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)
|
rs2083411
|
0.70392
|
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)
|
rs9646771
|
0.70187
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=)
|
rs6741066
|
0.69341
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_174889.4(NDUFAF2):c.-97A>G
|
rs158922
|
0.66969
|
NM_000108.5(DLD):c.*487C>T
|
rs4518
|
0.66588
|
NM_000108.5(DLD):c.*978T>C
|
rs2158835
|
0.66205
|
NM_000108.5(DLD):c.*1451T>C
|
rs2108223
|
0.66202
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_002618.4(PEX13):c.*2147A>G
|
rs2564097
|
0.66023
|
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)
|
rs2279516
|
0.65985
|
NM_000108.5(DLD):c.*207G>A
|
rs4564
|
0.65906
|
NM_006096.4(NDRG1):c.64-6T>C
|
rs2272653
|
0.65276
|
NM_002291.3(LAMB1):c.5225-7C>T
|
rs3213673
|
0.64814
|
NM_003477.3(PDHX):c.*486G>T
|
rs9326
|
0.64744
|
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)
|
rs6432901
|
0.64588
|
NM_006308.3(HSPB3):c.369T>C (p.Gly123=)
|
rs7823
|
0.63826
|
NM_133259.4(LRPPRC):c.*1665C>T
|
rs1139250
|
0.63748
|
NM_005138.3(SCO2):c.633A>C (p.Ala211=)
|
rs12148
|
0.63421
|
NM_030962.4(SBF2):c.*1364C>T
|
rs10118
|
0.63186
|
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)
|
rs158921
|
0.63042
|
NM_001195248.2(APTX):c.484-13G>T
|
rs10123944
|
0.62521
|
NM_022041.4(GAN):c.*472C>G
|
rs1816122
|
0.61663
|
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=)
|
rs2243906
|
0.61095
|
NM_000183.2(HADHB):c.-201G>A
|
rs3806516
|
0.60985
|
NM_057174.2(PEX16):c.*434G>A
|
rs2280329
|
0.60761
|
NM_021625.5(TRPV4):c.670A>C (p.Arg224=)
|
rs3825394
|
0.60669
|
NM_022041.4(GAN):c.*592T>A
|
rs1345895
|
0.59860
|
NM_003477.3(PDHX):c.858T>C (p.Val286=)
|
rs497582
|
0.59662
|
NM_004544.4(NDUFA10):c.*3450G>A
|
rs7573892
|
0.59554
|
NM_001386140.1(MTTP):c.*1046C>G
|
rs1061271
|
0.59509
|
NM_000370.3(TTPA):c.663+11T>C
|
rs4501570
|
0.59337
|
NM_024577.4(SH3TC2):c.*17703A>G
|
rs4235739
|
0.59322
|
NM_000370.3(TTPA):c.*1093G>A
|
rs4587328
|
0.59276
|
NM_003477.2(PDHX):c.-88C>A
|
rs2956110
|
0.59089
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
NM_024577.4(SH3TC2):c.*16020A>C
|
rs4543254
|
0.57641
|
NM_022041.4(GAN):c.*247G>A
|
rs2216769
|
0.57491
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422
|
0.56905
|
NM_000287.4(PEX6):c.2814G>A (p.Glu938=)
|
rs1129186
|
0.56758
|
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)
|
rs6747673
|
0.56670
|
NM_001365536.1(SCN9A):c.2105-14C>T
|
rs6432893
|
0.56480
|
NM_001303.4(COX10):c.699A>G (p.Pro233=)
|
rs2230354
|
0.55696
|
NM_005908.4(MANBA):c.*384C>T
|
rs4019
|
0.55353
|
NM_005908.4(MANBA):c.*401G>A
|
rs4013
|
0.55336
|
NM_004544.4(NDUFA10):c.*1957G>A
|
rs4854069
|
0.55325
|
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)
|
rs2272697
|
0.55313
|
NM_005908.4(MANBA):c.*124T>C
|
rs3194585
|
0.55297
|
NM_005908.4(MANBA):c.*161C>T
|
rs1054029
|
0.55296
|
NM_000521.4(HEXB):c.-126C>T
|
rs71627068
|
0.55186
|
NM_000521.4(HEXB):c.-122del
|
rs70976124
|
0.55177
|
NM_014874.4(MFN2):c.*896G>C
|
rs3088064
|
0.55119
|
NM_001113491.2(SEPTIN9):c.*1720T>C
|
rs445507
|
0.54935
|
NM_004376.6(COX15):c.-597A>C
|
rs2281636
|
0.54611
|
NM_004376.6(COX15):c.-435C>T
|
rs2231675
|
0.54408
|
NM_001042472.2(ABHD12):c.-220G>A
|
rs3827014
|
0.54397
|
NM_004863.4(SPTLC2):c.*4446G>T
|
rs11159268
|
0.54169
|
NM_005908.4(MANBA):c.*505G>A
|
rs1054037
|
0.54146
|
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)
|
rs6337
|
0.53946
|
NM_001113491.2(SEPTIN9):c.*325T>C
|
rs448203
|
0.53926
|
NM_015074.3(KIF1B):c.*5019T>C
|
rs3748581
|
0.53815
|
NM_006158.5(NEFL):c.*687G>C
|
rs2976439
|
0.53745
|
NM_006308.3(HSPB3):c.282G>A (p.Leu94=)
|
rs7699
|
0.53709
|
NM_006158.4(NEFL):c.-176C>A
|
rs2979688
|
0.53692
|
NM_001303.4(COX10):c.504G>A (p.Leu168=)
|
rs2159132
|
0.53492
|
NM_004813.4(PEX16):c.*303C>T
|
rs10838529
|
0.53226
|
NM_014874.3(MFN2):c.-212T>C
|
rs2180183
|
0.53102
|
NM_005006.7(NDUFS1):c.*336G>T
|
rs1044120
|
0.52989
|
NM_024577.4(SH3TC2):c.*11390A>G
|
rs3213854
|
0.52790
|
NM_024577.4(SH3TC2):c.*3077C>T
|
rs1045942
|
0.52772
|
NM_024577.4(SH3TC2):c.*5490G>A
|
rs1432795
|
0.52698
|
NM_033305.3(VPS13A):c.*1024C>T
|
rs9186
|
0.52644
|
NM_014874.3(MFN2):c.-367A>G
|
rs2236054
|
0.52635
|
NM_001127649.3(PEX26):c.*1265T>A
|
rs456551
|
0.52154
|
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)
|
rs1142530
|
0.52046
|
NM_001127649.3(PEX26):c.*167G>A
|
rs464385
|
0.52045
|
NM_005138.3(SCO2):c.-78G>C
|
rs131806
|
0.51847
|
NM_000370.3(TTPA):c.*1487G>A
|
rs6472068
|
0.51778
|
NM_001370298.3(FGD4):c.*4438A>G
|
rs11052124
|
0.51721
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_024577.4(SH3TC2):c.*19040A>G
|
rs930205
|
0.51121
|
NM_000288.4(PEX7):c.*306T>G
|
rs1050803
|
0.51106
|
NM_003630.3(PEX3):c.942-13A>G
|
rs161058
|
0.51037
|
NM_024577.4(SH3TC2):c.*19573G>A
|
rs4560536
|
0.51021
|
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)
|
rs2228611
|
0.50821
|
NM_001130823.3(DNMT1):c.1832+14A>G
|
rs2114724
|
0.50605
|
NM_000318.3(PEX2):c.*2663T>A
|
rs28435921
|
0.50526
|
NM_000217.3(KCNA1):c.804G>C (p.Thr268=)
|
rs2227910
|
0.50318
|
NM_001113491.2(SEPTIN9):c.*40A>T
|
rs11537705
|
0.50158
|
NM_000153.4(GALC):c.*723G>A
|
rs412915
|
0.49978
|
NM_000153.4(GALC):c.*626C>T
|
rs432946
|
0.49976
|
NM_000153.4(GALC):c.*1453A>G
|
rs405567
|
0.49973
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_000217.3(KCNA1):c.*1681T>C
|
rs7974459
|
0.49866
|
NM_001605.3(AARS1):c.903C>T (p.His301=)
|
rs2070203
|
0.49332
|
NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_024577.4(SH3TC2):c.*7292C>T
|
rs1347130
|
0.49144
|
NM_024577.4(SH3TC2):c.*14766T>A
|
rs891919
|
0.49105
|
NM_000158.4(GBE1):c.-28G>T
|
rs368460254
|
0.48974
|
NM_001370298.3(FGD4):c.*5198G>A
|
rs1133509
|
0.48969
|
NM_001303.4(COX10):c.476G>A (p.Arg159Gln)
|
rs2072279
|
0.48875
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_000217.3(KCNA1):c.*406C>T
|
rs4766311
|
0.48547
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_000217.3(KCNA1):c.*3062T>C
|
rs10849174
|
0.47680
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)
|
rs2306985
|
0.47212
|
NM_001113491.2(SEPTIN9):c.*657T>C
|
rs9038
|
0.47153
|
NM_000217.3(KCNA1):c.684T>C (p.Cys228=)
|
rs1048500
|
0.46819
|
NM_004589.4(SCO1):c.*722C>G
|
rs7512
|
0.46449
|
NM_000217.3(KCNA1):c.*1927A>T
|
rs7974559
|
0.45881
|
NM_000153.4(GALC):c.*590T>C
|
rs1042029
|
0.45472
|
NM_000153.4(GALC):c.*1186_*1188del
|
rs141199615
|
0.45391
|
NM_001370298.3(FGD4):c.*3770G>T
|
rs11052123
|
0.45391
|
NM_000217.3(KCNA1):c.*9G>A
|
rs4766310
|
0.45248
|
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)
|
rs10966
|
0.45223
|
NM_020247.5(COQ8A):c.1660-9T>C
|
rs7552783
|
0.45219
|
NM_024577.4(SH3TC2):c.*16631G>A
|
rs4705303
|
0.45194
|
NM_001113491.2(SEPTIN9):c.*6A>G
|
rs1059485
|
0.45123
|
NM_000153.4(GALC):c.*1275G>A
|
rs1042042
|
0.45032
|
NM_000153.4(GALC):c.1671-15C>T
|
rs12432149
|
0.45011
|
NM_000153.4(GALC):c.*1588T>G
|
rs17198
|
0.44979
|
NM_002857.4(PEX19):c.*2156C>G
|
rs10594
|
0.44938
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_001042472.3(ABHD12):c.*148C>T
|
rs1046073
|
0.44458
|
NM_001042472.3(ABHD12):c.*297C>G
|
rs11100
|
0.44435
|
NM_001351132.2(PEX5):c.*755C>G
|
rs1057225
|
0.44145
|
NM_001005373.4(LRSAM1):c.904-9C>T
|
rs1539568
|
0.43695
|
NM_001365536.1(SCN9A):c.*2640G>A
|
rs13396526
|
0.43246
|
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)
|
rs6107027
|
0.42961
|
NM_001723.7(DST):c.6031G>C (p.Val2011Leu)
|
rs6459166
|
0.42446
|
NM_002495.4(NDUFS4):c.*46G>A
|
rs567
|
0.42121
|
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)
|
rs3738725
|
0.42035
|
NM_000081.4(LYST):c.1251A>G (p.Gln417=)
|
rs1063128
|
0.41864
|
NM_000081.4(LYST):c.1683A>G (p.Leu561=)
|
rs3820553
|
0.41844
|
NM_000081.4(LYST):c.4956A>G (p.Leu1652=)
|
rs6696123
|
0.41826
|
NM_000081.4(LYST):c.5373G>A (p.Lys1791=)
|
rs2273584
|
0.41769
|
NM_022041.4(GAN):c.*967G>A
|
rs12920236
|
0.41705
|
NM_000487.6(ARSA):c.*682G>C
|
rs7288338
|
0.41670
|
NM_000487.6(ARSA):c.*855G>A
|
rs7288050
|
0.41126
|
NM_001723.7(DST):c.4074G>A (p.Lys1358=)
|
rs2230862
|
0.40815
|
NM_000287.3(PEX6):c.-55C>T
|
rs9462859
|
0.40581
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
|
rs1129187
|
0.40479
|
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)
|
rs3737289
|
0.40290
|
NM_000153.4(GALC):c.1350C>T (p.Ser450=)
|
rs398076
|
0.39907
|
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)
|
rs227368
|
0.39095
|
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)
|
rs13848
|
0.38961
|
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)
|
rs13402180
|
0.38348
|
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)
|
rs13414203
|
0.38341
|
NM_000286.3(PEX12):c.*517A>G
|
rs1046321
|
0.37640
|
NM_001042472.3(ABHD12):c.*83G>A
|
rs2424708
|
0.37241
|
NM_001034850.3(RETREG1):c.*1012G>A
|
rs26016
|
0.37107
|
NM_001136472.2(LITAF):c.*1251A>G
|
rs7102
|
0.36899
|
NM_000286.3(PEX12):c.*836G>C
|
rs10068
|
0.36472
|
NM_003477.2(PDHX):c.-272G>A
|
rs2956111
|
0.36407
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
NM_002506.3(NGF):c.104C>T (p.Ala35Val)
|
rs6330
|
0.36049
|
NM_000158.4(GBE1):c.*176G>A
|
rs846
|
0.35837
|
NM_014845.6(FIG4):c.*120C>T
|
rs1127775
|
0.35612
|
NM_021830.5(TWNK):c.-605G>T
|
rs3740484
|
0.35155
|
NM_001370298.3(FGD4):c.*1492T>G
|
rs7980205
|
0.34985
|
NM_001370298.3(FGD4):c.*1133A>C
|
rs10844268
|
0.34951
|
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)
|
rs1801318
|
0.34874
|
NM_024577.4(SH3TC2):c.*3196T>C
|
rs3763022
|
0.34686
|
NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
0.34581
|
NM_014365.3(HSPB8):c.*644A>G
|
rs11038
|
0.34575
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_003477.2(PDHX):c.-390G>A
|
rs2956114
|
0.34353
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_030962.4(SBF2):c.*514C>T
|
rs3829252
|
0.33836
|
NM_030962.4(SBF2):c.*1515G>A
|
rs1045634
|
0.33744
|
NM_000274.4(OAT):c.1134C>T (p.Asn378=)
|
rs11461
|
0.33660
|
NM_006096.4(NDRG1):c.*691G>A
|
rs1049694
|
0.32591
|
NM_001370298.3(FGD4):c.*1454A>G
|
rs7964947
|
0.31826
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
NM_024577.4(SH3TC2):c.*929G>C
|
rs1432798
|
0.31381
|
NM_000108.5(DLD):c.*1688G>A
|
rs8440
|
0.31157
|
NM_020247.5(COQ8A):c.*464G>A
|
rs8159
|
0.31059
|
NM_030962.4(SBF2):c.*40A>C
|
rs3751000
|
0.30738
|
NM_004544.4(NDUFA10):c.*1189C>T
|
rs66534347
|
0.30437
|
NM_018972.4(GDAP1):c.*1855A>G
|
rs6472842
|
0.30274
|
NM_033305.3(VPS13A):c.*1378C>A
|
rs13286867
|
0.30192
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_000925.4(PDHB):c.438G>A (p.Gly146=)
|
rs1126551
|
0.30058
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_001034850.3(RETREG1):c.*206A>C
|
rs32147
|
0.29733
|
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_000925.4(PDHB):c.*243A>C
|
rs1126722
|
0.29583
|
NM_000487.6(ARSA):c.*635G>A
|
rs5770953
|
0.29302
|
NM_002618.4(PEX13):c.*952C>T
|
rs56739127
|
0.29127
|
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)
|
rs61741379
|
0.28900
|
NM_021830.5(TWNK):c.*766A>T
|
rs3740488
|
0.28823
|
NM_021830.5(TWNK):c.1593-5C>T
|
rs3740485
|
0.28642
|
NM_021830.5(TWNK):c.1593-3T>C
|
rs3740486
|
0.28631
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
NM_004544.4(NDUFA10):c.*414G>A
|
rs13424612
|
0.28510
|
NM_004544.4(NDUFA10):c.*3204C>T
|
rs34277046
|
0.28460
|
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=)
|
rs566204
|
0.28363
|
NM_000925.4(PDHB):c.*353T>C
|
rs1126735
|
0.28091
|
NM_016156.6(MTMR2):c.*1419G>A
|
rs496305
|
0.27825
|
NM_016156.6(MTMR2):c.*1934T>C
|
rs525404
|
0.27753
|
NM_016156.6(MTMR2):c.*1568C>T
|
rs596277
|
0.27751
|
NM_016156.6(MTMR2):c.*549G>A
|
rs611020
|
0.27729
|
NM_002617.4(PEX10):c.*173G>A
|
rs1129171
|
0.27656
|
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874
|
0.27654
|
NM_078470.6(COX15):c.*2649G>A
|
rs1128642
|
0.27557
|
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=)
|
rs10844253
|
0.27488
|
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)
|
rs730600
|
0.27319
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_020631.6(PLEKHG5):c.*290T>C
|
rs14708
|
0.27269
|
NM_018972.4(GDAP1):c.*2214A>G
|
rs10504580
|
0.26909
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
NM_006329.4(FBLN5):c.-414C>T
|
rs7149187
|
0.26340
|
NM_000487.6(ARSA):c.*1522C>A
|
rs6009939
|
0.26325
|
NM_001303.4(COX10):c.*1385C>T
|
rs1050223
|
0.26244
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_000253.3(MTTP):c.-241G>A
|
rs11944752
|
0.26041
|
NM_004565.3(PEX14):c.156C>T (p.Phe52=)
|
rs12375
|
0.25602
|
NM_018319.4(TDP1):c.-230-14C>A
|
rs28365055
|
0.25524
|
NM_018319.4(TDP1):c.291A>G (p.Gln97=)
|
rs3825663
|
0.25304
|
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=)
|
rs11052110
|
0.25239
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
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_002977.3(SCN9A):c.-307G>T
|
rs1881440
|
0.24356
|
NM_024577.4(SH3TC2):c.*8111A>C
|
rs17109205
|
0.24306
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)
|
rs622082
|
0.24183
|
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)
|
rs546382
|
0.24174
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_024577.4(SH3TC2):c.*1909G>T
|
rs998304
|
0.23360
|
NM_024577.4(SH3TC2):c.*1639T>C
|
rs1007400
|
0.23355
|
NM_001303.4(COX10):c.*1078C>T
|
rs13183
|
0.23332
|
NM_001303.4(COX10):c.*297G>A
|
rs8076247
|
0.23328
|
NM_024577.4(SH3TC2):c.*5799C>T
|
rs17109208
|
0.23286
|
NM_000284.4(PDHA1):c.*1394C>T
|
rs55856360
|
0.22991
|
NM_000284.4(PDHA1):c.760-15C>A
|
rs7058209
|
0.22904
|
NM_002180.3(IGHMBP2):c.*681T>C
|
rs9095
|
0.22873
|
NM_024577.4(SH3TC2):c.*14562G>A
|
rs17109198
|
0.22872
|
NM_000284.4(PDHA1):c.*1059G>A
|
rs15816
|
0.22867
|
NM_024577.4(SH3TC2):c.*14856C>A
|
rs891920
|
0.22858
|
NM_000284.4(PDHA1):c.*844A>G
|
rs1042453
|
0.22833
|
NM_000284.4(PDHA1):c.*728C>T
|
rs1042452
|
0.22767
|
NM_000284.4(PDHA1):c.*319G>T
|
rs1042449
|
0.22677
|
NM_012073.5(CCT5):c.*382C>T
|
rs2578641
|
0.22645
|
NM_000284.4(PDHA1):c.*322G>A
|
rs1042450
|
0.22629
|
NM_020631.6(PLEKHG5):c.-88+5G>A
|
rs3007429
|
0.22575
|
NM_024577.4(SH3TC2):c.*2956C>T
|
rs3763020
|
0.22548
|
NM_024577.4(SH3TC2):c.*8248G>C
|
rs56309414
|
0.22436
|
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)
|
rs17612126
|
0.22387
|
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
NM_000925.4(PDHB):c.*99C>T
|
rs7230
|
0.22245
|
NM_002180.3(IGHMBP2):c.*427C>T
|
rs3750980
|
0.22234
|
NM_000925.4(PDHB):c.*356A>G
|
rs1126737
|
0.22224
|
NM_003477.2(PDHX):c.-129C>T
|
rs112032820
|
0.22090
|
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)
|
rs11539202
|
0.21800
|
NM_000318.3(PEX2):c.-164C>A
|
rs12718
|
0.21609
|
NM_000217.3(KCNA1):c.*4439C>T
|
rs12424292
|
0.21574
|
NM_022041.4(GAN):c.1293C>T (p.Tyr431=)
|
rs2608555
|
0.21491
|
NM_000284.4(PDHA1):c.*1377G>A
|
rs56039350
|
0.20892
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)
|
rs11228413
|
0.20651
|
NM_000304.4(PMP22):c.*577T>C
|
rs7538
|
0.20549
|
NM_000286.3(PEX12):c.*166C>A
|
rs1037590
|
0.20532
|
NM_018319.4(TDP1):c.*77C>T
|
rs9488
|
0.20063
|
NM_002529.4(NTRK1):c.1674G>A (p.Gln558=)
|
rs6334
|
0.19892
|
NM_020631.4(PLEKHG5):c.*1440C>T
|
rs3007417
|
0.19870
|
NM_024577.4(SH3TC2):c.*6436G>T
|
rs11168079
|
0.19789
|
NM_033305.3(VPS13A):c.*222G>A
|
rs12343797
|
0.19772
|
NM_003477.2(PDHX):c.-202A>G
|
rs113073242
|
0.19613
|
NM_003477.2(PDHX):c.-505G>A
|
rs16926448
|
0.19609
|
NM_003477.3(PDHX):c.108T>C (p.Ser36=)
|
rs1049307
|
0.19592
|
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)
|
rs1049306
|
0.19588
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_020631.4(PLEKHG5):c.*990C>T
|
rs3007418
|
0.19422
|
NM_004565.3(PEX14):c.384+14A>T
|
rs284238
|
0.19360
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)
|
rs7025532
|
0.18911
|
NM_002180.3(IGHMBP2):c.-2C>T
|
rs4930624
|
0.18778
|
NM_002496.4(NDUFS8):c.*14C>T
|
rs1051806
|
0.18509
|
NM_001136472.2(LITAF):c.*796T>C
|
rs1198
|
0.18402
|
NM_001303.4(COX10):c.*371A>G
|
rs11078234
|
0.18397
|
NM_003477.2(PDHX):c.-124G>C
|
rs375130125
|
0.18392
|
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_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
NM_024577.4(SH3TC2):c.*719G>A
|
rs10050933
|
0.18073
|
NM_001005361.3(DNM2):c.*268A>T
|
rs12461992
|
0.17591
|
NM_000183.2(HADHB):c.-214C>T
|
rs72809668
|
0.17558
|
NM_001303.4(COX10):c.*1076T>C
|
rs1050216
|
0.17502
|
NM_000182.5(HADHA):c.*302G>A
|
rs1049987
|
0.17222
|
NM_000182.5(HADHA):c.474C>T (p.Tyr158=)
|
rs11552518
|
0.16973
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_024577.4(SH3TC2):c.*5999G>A
|
rs79866394
|
0.16703
|
NM_014365.3(HSPB8):c.*684G>A
|
rs1133026
|
0.16667
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_024577.4(SH3TC2):c.*4719C>G
|
rs6885467
|
0.16464
|
NM_024577.4(SH3TC2):c.*1309C>T
|
rs1007401
|
0.16452
|
NM_024577.4(SH3TC2):c.*6692A>G
|
rs11168078
|
0.16452
|
NM_024577.4(SH3TC2):c.*17903A>G
|
rs76444127
|
0.16396
|
NM_024577.4(SH3TC2):c.*14621G>T
|
rs17795097
|
0.16395
|
NM_024577.4(SH3TC2):c.*20463T>C
|
rs77021631
|
0.16394
|
NM_024577.4(SH3TC2):c.*20166T>A
|
rs17795091
|
0.16389
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_015046.7(SETX):c.*562C>A
|
rs11787894
|
0.16282
|
NM_015046.7(SETX):c.*626C>T
|
rs11795382
|
0.16247
|
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)
|
rs35843327
|
0.15996
|
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262
|
0.15945
|
NM_001303.4(COX10):c.*757T>C
|
rs1802618
|
0.15929
|
NM_003630.3(PEX3):c.*546A>G
|
rs10809
|
0.15859
|
NM_001303.4(COX10):c.*322T>C
|
rs11078233
|
0.15800
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_000253.3(MTTP):c.-252G>C
|
rs11944749
|
0.15525
|
NM_001370298.3(FGD4):c.2047-7T>C
|
rs11052113
|
0.15340
|
NM_001303.3(COX10):c.-109G>A
|
rs28680987
|
0.15186
|
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=)
|
rs4953042
|
0.14931
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_001351132.2(PEX5):c.*141G>A
|
rs3813737
|
0.14722
|
NM_033305.3(VPS13A):c.6378+15A>T
|
rs12348097
|
0.14593
|
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)
|
rs3742037
|
0.14446
|
NM_002180.3(IGHMBP2):c.*665C>T
|
rs9769
|
0.14339
|
NM_001374736.1(DST):c.2368T>C (p.Leu790=)
|
rs2144407
|
0.14274
|
NM_001723.7(DST):c.98T>C (p.Leu33Ser)
|
rs1024196
|
0.14270
|
NM_001953.5(TYMP):c.1284T>A (p.Gly428=)
|
rs1138404
|
0.14075
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_002618.4(PEX13):c.*1194G>A
|
rs75205376
|
0.13689
|
NM_000487.6(ARSA):c.*741C>T
|
rs8142033
|
0.13503
|
NM_004565.3(PEX14):c.1032G>T (p.Gly344=)
|
rs11539794
|
0.13336
|
NM_001136472.2(LITAF):c.-6+594A>G
|
rs12921437
|
0.13319
|
NM_000081.4(LYST):c.153A>C (p.Gly51=)
|
rs11464
|
0.13219
|
NM_003680.3(YARS1):c.-738C>G
|
rs3737251
|
0.13215
|
NM_000530.8(MPZ):c.*761A>G
|
rs16832786
|
0.13087
|
NM_014317.5(PDSS1):c.*76C>T
|
rs12776877
|
0.13025
|
NM_001365536.1(SCN9A):c.2105-15G>A
|
rs4525717
|
0.12980
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_002778.4(PSAP):c.-4C>T
|
rs2070188
|
0.12811
|
NM_003477.3(PDHX):c.-4C>G
|
rs3818401
|
0.12767
|
NM_021625.5(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034
|
0.12664
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_000158.4(GBE1):c.143+10G>T
|
rs9820490
|
0.12510
|
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg)
|
rs3745202
|
0.12427
|
NM_181882.3(PRX):c.306C>T (p.Thr102=)
|
rs744389
|
0.12409
|
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)
|
rs982424
|
0.12209
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_000217.3(KCNA1):c.-110G>A
|
rs35678382
|
0.12116
|
NM_000288.4(PEX7):c.-56C>T
|
rs73777751
|
0.11791
|
NM_000487.6(ARSA):c.*340T>A
|
rs5741862
|
0.11788
|
NM_004544.4(NDUFA10):c.*1923_*1924insA
|
rs138899326
|
0.11754
|
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly)
|
rs11541494
|
0.11689
|
NM_004544.4(NDUFA10):c.*308C>T
|
rs8369
|
0.11658
|
NM_024577.4(SH3TC2):c.*10968G>A
|
rs13166730
|
0.11562
|
NM_004544.4(NDUFA10):c.*2309G>A
|
rs1132778
|
0.11433
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_020312.4(COQ9):c.*456C>A
|
rs223869
|
0.11358
|
NM_000153.4(GALC):c.42G>C (p.Ala14=)
|
rs112992946
|
0.11300
|
NM_000153.4(GALC):c.61G>C (p.Ala21Pro)
|
rs111887056
|
0.11296
|
NM_000153.4(GALC):c.75C>A (p.Gly25=)
|
rs111976362
|
0.11287
|
NM_006415.4(SPTLC1):c.*1302T>G
|
rs7035964
|
0.11234
|
NM_020631.6(PLEKHG5):c.1801-12C>A
|
rs943584
|
0.11198
|
NM_001365536.1(SCN9A):c.*2854T>C
|
rs73017538
|
0.11196
|
NM_004863.4(SPTLC2):c.*2177A>C
|
rs17824567
|
0.11179
|
NM_006096.4(NDRG1):c.756-5C>T
|
rs2227262
|
0.11176
|
NM_000153.4(GALC):c.*1126G>A
|
rs1042035
|
0.11091
|
NM_004863.4(SPTLC2):c.*2159A>G
|
rs45493395
|
0.11081
|
NM_000108.5(DLD):c.*28G>T
|
rs17154615
|
0.10964
|
NM_004544.4(NDUFA10):c.*2602C>T
|
rs58261980
|
0.10946
|
NM_000081.4(LYST):c.2355T>C (p.Leu785=)
|
rs3768066
|
0.10928
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_001127649.3(PEX26):c.*1590G>A
|
rs5992169
|
0.10823
|
NM_001127649.3(PEX26):c.*1669C>G
|
rs112015789
|
0.10796
|
NM_001127649.3(PEX26):c.*917C>T
|
rs9605518
|
0.10773
|
NM_001365536.1(SCN9A):c.*1013C>T
|
rs16851754
|
0.10746
|
NM_001365536.1(SCN9A):c.*1796C>T
|
rs16851751
|
0.10742
|
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)
|
rs17533489
|
0.10642
|
NM_003680.4(YARS1):c.57+14G>T
|
rs72654020
|
0.10621
|
NM_003680.4(YARS1):c.1218G>C (p.Leu406=)
|
rs699005
|
0.10610
|
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val)
|
rs2228612
|
0.10575
|
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr)
|
rs28365054
|
0.10566
|
NM_033305.2(VPS13A):c.-181G>A
|
rs117488726
|
0.10492
|
NM_003477.3(PDHX):c.798T>C (p.Pro266=)
|
rs61760973
|
0.10477
|
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)
|
rs11145366
|
0.10477
|
NM_006158.5(NEFL):c.*1107C>T
|
rs3761
|
0.10372
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
NM_000274.4(OAT):c.*185C>T
|
rs2459216
|
0.10300
|
NM_133259.4(LRPPRC):c.3900+14C>T
|
rs3795859
|
0.10271
|
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)
|
rs62639695
|
0.10172
|
NM_001127649.3(PEX26):c.-318A>G
|
rs62239019
|
0.10068
|
NM_005908.4(MANBA):c.315G>A (p.Thr105=)
|
rs6857760
|
0.10011
|
NM_022041.4(GAN):c.*2188T>C
|
rs2290949
|
0.09906
|
NM_078470.6(COX15):c.*3417T>C
|
rs10883407
|
0.09903
|
NM_001113491.2(SEPTIN9):c.*1035G>A
|
rs368116
|
0.09627
|
NM_133259.4(LRPPRC):c.3900+15C>T
|
rs76850904
|
0.09620
|
NM_004376.5(COX15):c.*3268A>C
|
rs1056844
|
0.09586
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236
|
0.09556
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438
|
0.09548
|
NM_001127649.3(PEX26):c.*1635G>C
|
rs361703
|
0.09478
|
NM_000487.6(ARSA):c.-345G>C
|
rs6151406
|
0.09453
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_005138.3(SCO2):c.-18G>A
|
rs74479613
|
0.09346
|
NM_015046.7(SETX):c.*2262A>G
|
rs997784
|
0.09345
|
NM_022041.4(GAN):c.*235T>C
|
rs16955203
|
0.09324
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
NM_000158.4(GBE1):c.579G>A (p.Lys193=)
|
rs17019144
|
0.09257
|
NM_000081.4(LYST):c.4392C>T (p.Asn1464=)
|
rs11583387
|
0.09239
|
NM_020631.4(PLEKHG5):c.*1304G>A
|
rs45604837
|
0.09117
|
NM_001370298.3(FGD4):c.*1148C>T
|
rs56110646
|
0.09020
|
NM_001370298.3(FGD4):c.*1723C>T
|
rs4931030
|
0.09014
|
NM_001370298.3(FGD4):c.*3920del
|
rs144034303
|
0.09005
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
NM_001370298.3(FGD4):c.*1828A>T
|
rs4931031
|
0.08985
|
NM_001370298.3(FGD4):c.1750-12C>T
|
rs73083501
|
0.08885
|
NM_033305.3(VPS13A):c.*565G>A
|
rs989391
|
0.08857
|
NM_000158.4(GBE1):c.342C>T (p.Tyr114=)
|
rs13320194
|
0.08854
|
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)
|
rs2306986
|
0.08726
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_014845.6(FIG4):c.*29G>A
|
rs10659
|
0.08648
|
NM_002617.4(PEX10):c.913-4G>A
|
rs11586985
|
0.08566
|
NM_004863.4(SPTLC2):c.*2702G>A
|
rs10147023
|
0.08565
|
NM_022041.4(GAN):c.*2321_*2322insG
|
rs202192140
|
0.08532
|
NM_024577.4(SH3TC2):c.*8756G>T
|
rs7733177
|
0.08504
|
NM_021625.5(TRPV4):c.795C>T (p.His265=)
|
rs1344554
|
0.08478
|
NM_006158.5(NEFL):c.1170-13T>C
|
rs76347846
|
0.08329
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_006158.5(NEFL):c.*1643G>A
|
rs8077
|
0.08320
|
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)
|
rs3792683
|
0.08314
|
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys)
|
rs7102464
|
0.08286
|
NM_001386140.1(MTTP):c.*183C>T
|
rs74542928
|
0.08278
|
NM_001386140.1(MTTP):c.*862C>A
|
rs6832927
|
0.08274
|
NM_001386140.1(MTTP):c.*506A>G
|
rs6832119
|
0.08272
|
NM_004168.4(SDHA):c.1908+15C>T
|
rs34504623
|
0.08152
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593
|
0.08113
|
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu)
|
rs34587622
|
0.08095
|
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=)
|
rs16868675
|
0.08069
|
NM_021830.5(TWNK):c.*521C>G
|
rs11542131
|
0.08029
|
NM_003680.3(YARS1):c.-683C>T
|
rs72654022
|
0.07993
|
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu)
|
rs12574508
|
0.07978
|
NM_001113491.2(SEPTIN9):c.*764C>G
|
rs422959
|
0.07882
|
NM_001351132.2(PEX5):c.-17+290T>A
|
rs113752912
|
0.07875
|
NM_024577.4(SH3TC2):c.*19519G>A
|
rs10039839
|
0.07821
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
NM_133259.4(LRPPRC):c.*1458A>G
|
rs371572374
|
0.07783
|
NM_024577.4(SH3TC2):c.*11852G>T
|
rs13359285
|
0.07778
|
NM_001370298.3(FGD4):c.1404+8G>A
|
rs12823621
|
0.07737
|
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=)
|
rs17424026
|
0.07721
|
NM_001605.3(AARS1):c.671+3A>G
|
rs74024185
|
0.07668
|
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)
|
rs11537667
|
0.07667
|
NM_133259.4(LRPPRC):c.*556A>T
|
rs1136998
|
0.07663
|
NM_014874.4(MFN2):c.2204+15T>C
|
rs77262016
|
0.07571
|
NM_001042472.3(ABHD12):c.*320_*321del
|
rs58058232
|
0.07558
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_000487.6(ARSA):c.*1570C>T
|
rs79823940
|
0.07507
|
NM_001386140.1(MTTP):c.39C>G (p.Ser13=)
|
rs7667001
|
0.07507
|
NM_000487.6(ARSA):c.*1369C>T
|
rs76841085
|
0.07487
|
NM_014365.3(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742
|
0.07444
|
NM_000156.6(GAMT):c.*276C>T
|
rs266810
|
0.07427
|
NM_016156.6(MTMR2):c.*1066T>C
|
rs16922622
|
0.07419
|
NM_000156.6(GAMT):c.*146A>C
|
rs659455
|
0.07418
|
NM_000156.6(GAMT):c.*151T>C
|
rs659460
|
0.07383
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
NM_001386140.1(MTTP):c.933C>A (p.Thr311=)
|
rs17029213
|
0.07360
|
NM_001386140.1(MTTP):c.1769+9C>T
|
rs34734558
|
0.07357
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_001365536.1(SCN9A):c.*2146G>C
|
rs1062844
|
0.07204
|
NM_016156.6(MTMR2):c.*1396C>T
|
rs16922615
|
0.07185
|
NM_004863.4(SPTLC2):c.*1134T>C
|
rs17751562
|
0.07179
|
NM_003560.4(PLA2G6):c.87G>A (p.Val29=)
|
rs2267369
|
0.07176
|
NM_198252.3(GSN):c.2115T>C (p.Phe705=)
|
rs9102
|
0.07073
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
NM_020631.6(PLEKHG5):c.43+13G>A
|
rs78593902
|
0.07001
|
NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=)
|
rs2228613
|
0.06881
|
NM_030962.4(SBF2):c.*1619A>C
|
rs360126
|
0.06845
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_001365536.1(SCN9A):c.3802-4A>G
|
rs75230218
|
0.06754
|
NM_006158.5(NEFL):c.*426G>A
|
rs73546943
|
0.06709
|
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)
|
rs2228389
|
0.06703
|
NM_004813.4(PEX16):c.*587A>G
|
rs72902478
|
0.06684
|
NM_015046.7(SETX):c.*1365G>T
|
rs7875801
|
0.06684
|
NM_001365536.1(SCN9A):c.*1774G>A
|
rs114843828
|
0.06654
|
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)
|
rs149207258
|
0.06646
|
NM_001365536.1(SCN9A):c.*2297A>T
|
rs75345520
|
0.06645
|
NM_000156.6(GAMT):c.*311C>G
|
rs266811
|
0.06572
|
NM_018319.4(TDP1):c.-21C>T
|
rs34348197
|
0.06559
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_001195248.2(APTX):c.484-12_484-11insG
|
rs377129152
|
0.06469
|
NM_000274.4(OAT):c.*535T>C
|
rs8182
|
0.06407
|
NM_001127649.3(PEX26):c.*1623G>T
|
rs114698763
|
0.06369
|
NM_002529.4(NTRK1):c.1806-4del
|
rs1799770
|
0.06316
|
NM_000284.4(PDHA1):c.*614G>T
|
rs5955761
|
0.06313
|
NM_001303.4(COX10):c.184A>T (p.Thr62Ser)
|
rs2230351
|
0.06303
|
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr)
|
rs74809741
|
0.06203
|
NM_004637.6(RAB7A):c.*863C>G
|
rs59753334
|
0.06155
|
NM_000287.4(PEX6):c.2364G>A (p.Val788=)
|
rs2274515
|
0.06152
|
NM_000158.4(GBE1):c.*152C>A
|
rs9820089
|
0.06146
|
NM_000287.4(PEX6):c.*319C>T
|
rs736158
|
0.06143
|
NM_006096.4(NDRG1):c.755+10T>C
|
rs2233336
|
0.06123
|
NM_020247.5(COQ8A):c.*681G>A
|
rs10482
|
0.06118
|
NM_000108.5(DLD):c.684+7G>A
|
rs75123588
|
0.06110
|
NM_018972.4(GDAP1):c.*1173G>T
|
rs72665430
|
0.06104
|
NM_001042472.3(ABHD12):c.-44C>G
|
rs373200654
|
0.06100
|
NM_001113491.2(SEPTIN9):c.*740C>T
|
rs442959
|
0.06084
|
NM_004863.4(SPTLC2):c.*5531A>G
|
rs17105886
|
0.06072
|
NM_000925.3(PDHB):c.*407_*408delAA
|
rs35161513
|
0.06029
|
NM_000304.4(PMP22):c.*828G>A
|
rs13027
|
0.06019
|
NM_000284.4(PDHA1):c.*1598G>C
|
rs11094770
|
0.06012
|
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val)
|
rs61740145
|
0.06002
|
NM_018319.4(TDP1):c.*1448G>A
|
rs34004710
|
0.05962
|
NM_018319.4(TDP1):c.*1452C>T
|
rs34923595
|
0.05957
|
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=)
|
rs2413502
|
0.05955
|
NM_018319.4(TDP1):c.*1460C>G
|
rs35944390
|
0.05950
|
NM_018319.4(TDP1):c.1077A>G (p.Pro359=)
|
rs17126522
|
0.05945
|
NM_000487.6(ARSA):c.459C>T (p.His153=)
|
rs6151412
|
0.05937
|
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=)
|
rs11570679
|
0.05937
|
NM_001605.3(AARS1):c.*74A>T
|
rs11537663
|
0.05921
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_000081.4(LYST):c.2316C>T (p.Asp772=)
|
rs16832868
|
0.05899
|
NM_198252.3(GSN):c.1694C>T (p.Thr565Met)
|
rs76463933
|
0.05893
|
NM_000081.4(LYST):c.5847G>C (p.Gln1949His)
|
rs6665568
|
0.05891
|
NM_000081.4(LYST):c.6630A>G (p.Glu2210=)
|
rs34466404
|
0.05877
|
NM_030962.4(SBF2):c.909C>T (p.Pro303=)
|
rs16907355
|
0.05858
|
NM_022041.4(GAN):c.*1817G>C
|
rs73602873
|
0.05804
|
NM_198252.3(GSN):c.1260C>T (p.Gly420=)
|
rs2304393
|
0.05790
|
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=)
|
rs17340192
|
0.05788
|
NM_022041.4(GAN):c.*764G>A
|
rs1934
|
0.05779
|
NM_022041.4(GAN):c.*227G>A
|
rs113970605
|
0.05772
|
NM_133259.3(LRPPRC):c.-45G>A
|
rs11124961
|
0.05742
|
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)
|
rs3138150
|
0.05741
|
NM_003172.4(SURF1):c.*118T>C
|
rs4962133
|
0.05734
|
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)
|
rs11548670
|
0.05713
|
NM_000304.4(PMP22):c.*228G>A
|
rs1804193
|
0.05698
|
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)
|
rs33946522
|
0.05607
|
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)
|
rs76625876
|
0.05582
|
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=)
|
rs17423984
|
0.05526
|
NM_024407.5(NDUFS7):c.408+10G>T
|
rs2074896
|
0.05515
|
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=)
|
rs112471131
|
0.05506
|
NM_004637.6(RAB7A):c.*189A>G
|
rs11549750
|
0.05501
|
NM_001303.4(COX10):c.33C>T (p.Arg11=)
|
rs8076787
|
0.05496
|
NM_003172.4(SURF1):c.573C>G (p.Thr191=)
|
rs28715079
|
0.05492
|
NM_005138.3(SCO2):c.582C>T (p.Ser194=)
|
rs131811
|
0.05449
|
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser)
|
rs1802083
|
0.05390
|
NM_006415.4(SPTLC1):c.*445A>G
|
rs7944
|
0.05348
|
NM_000399.5(EGR2):c.*287T>A
|
rs61865883
|
0.05337
|
NM_000286.3(PEX12):c.-534C>T
|
rs2278950
|
0.05335
|
NM_000399.5(EGR2):c.*874A>G
|
rs61865882
|
0.05335
|
NM_004544.4(NDUFA10):c.*631C>T
|
rs10933622
|
0.05326
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_018319.4(TDP1):c.-224A>G
|
rs35439694
|
0.05316
|
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)
|
rs1800458
|
0.05309
|
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)
|
rs6151415
|
0.05295
|
NM_000153.4(GALC):c.*709A>C
|
rs45572135
|
0.05219
|
NM_014874.4(MFN2):c.*1488C>T
|
rs11554507
|
0.05161
|
NM_022041.4(GAN):c.*1658T>G
|
rs16955221
|
0.05141
|
NM_022041.4(GAN):c.*1068T>G
|
rs57170812
|
0.05139
|
NM_022041.4(GAN):c.*1250T>G
|
rs61096092
|
0.05139
|
NM_022041.4(GAN):c.*1388A>G
|
rs41484544
|
0.05121
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
NM_000520.6(HEXA):c.*630A>G
|
rs35949555
|
0.05119
|
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=)
|
rs11227859
|
0.05117
|
NM_003477.3(PDHX):c.*173G>A
|
rs75863418
|
0.05112
|
NM_003477.3(PDHX):c.*200T>C
|
rs16926653
|
0.05109
|
NM_003477.3(PDHX):c.339C>T (p.Ile113=)
|
rs34582941
|
0.05105
|
NM_004863.4(SPTLC2):c.*6080C>G
|
rs56040359
|
0.05057
|
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=)
|
rs10896187
|
0.05020
|
NM_003477.3(PDHX):c.241+3G>A
|
rs78878052
|
0.04995
|
NM_003477.3(PDHX):c.*890T>C
|
rs1049333
|
0.04989
|
NM_003172.4(SURF1):c.280T>C (p.Leu94=)
|
rs28615629
|
0.04975
|
NM_001386140.1(MTTP):c.285G>C (p.Gln95His)
|
rs61733139
|
0.04959
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_006096.4(NDRG1):c.*711C>T
|
rs16904866
|
0.04897
|
NM_001370298.3(FGD4):c.167-61986C>T
|
rs11052033
|
0.04887
|
NM_006158.5(NEFL):c.*378A>G
|
rs17052849
|
0.04877
|
NM_001365536.1(SCN9A):c.688+13T>C
|
rs74449889
|
0.04864
|
NM_014874.4(MFN2):c.*912C>T
|
rs14305
|
0.04860
|
NC_000017.11:g.10697578C>A
|
rs2520169
|
0.04792
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901
|
0.04745
|
NM_003680.4(YARS1):c.*293A>G
|
rs16866009
|
0.04739
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_000304.4(PMP22):c.*1111G>T
|
rs7415
|
0.04701
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
NM_018319.4(TDP1):c.-177C>T
|
rs35132667
|
0.04596
|
NM_000182.5(HADHA):c.*510A>T
|
rs13432453
|
0.04522
|
NM_000217.3(KCNA1):c.*2174C>T
|
rs73050551
|
0.04497
|
NM_000487.6(ARSA):c.*1746G>A
|
rs73172277
|
0.04494
|
NM_000217.3(KCNA1):c.*5141G>A
|
rs41482147
|
0.04492
|
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133
|
0.04462
|
NM_014874.4(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837
|
0.04459
|
NM_002857.3(PEX19):c.-41C>T
|
rs113442137
|
0.04456
|
NM_002857.4(PEX19):c.*2353G>T
|
rs9853
|
0.04407
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)
|
rs58465962
|
0.04390
|
NM_000081.4(LYST):c.574T>G (p.Leu192Val)
|
rs7524261
|
0.04386
|
NM_030962.4(SBF2):c.*1144A>G
|
rs3751001
|
0.04377
|
NM_005908.4(MANBA):c.*356G>A
|
rs7672268
|
0.04355
|
NM_000108.5(DLD):c.1351C>T (p.Leu451=)
|
rs1803921
|
0.04354
|
NM_014874.4(MFN2):c.*1100A>G
|
rs41278638
|
0.04352
|
NM_006415.4(SPTLC1):c.1136+12A>G
|
rs76562923
|
0.04351
|
NM_005908.4(MANBA):c.831A>G (p.Leu277=)
|
rs17033168
|
0.04331
|
NM_004589.4(SCO1):c.*310C>T
|
rs2662957
|
0.04323
|
NM_024577.4(SH3TC2):c.*1935T>C
|
rs6883926
|
0.04318
|
NM_015046.7(SETX):c.*717T>C
|
rs17148857
|
0.04316
|
NM_004565.3(PEX14):c.1014C>T (p.Asp338=)
|
rs2128414
|
0.04291
|
NM_000217.3(KCNA1):c.*1524A>G
|
rs79357862
|
0.04290
|
NM_004637.6(RAB7A):c.219C>T (p.Leu73=)
|
rs4548
|
0.04279
|
NM_022041.4(GAN):c.*2498T>G
|
rs2290948
|
0.04199
|
NM_004589.4(SCO1):c.*272T>C
|
rs2662956
|
0.04198
|
NM_004589.4(SCO1):c.594A>G (p.Pro198=)
|
rs2271228
|
0.04192
|
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_022041.4(GAN):c.*294A>G
|
rs16955210
|
0.04160
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)
|
rs2297411
|
0.04148
|
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=)
|
rs13429423
|
0.04117
|
NM_001303.4(COX10):c.928+12G>A
|
rs200573622
|
0.04100
|
NM_016156.6(MTMR2):c.*1444C>G
|
rs149223349
|
0.04087
|
NM_014845.6(FIG4):c.67-7T>C
|
rs56378532
|
0.04073
|
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577
|
0.04066
|
NM_007103.4(NDUFV1):c.-66G>A
|
rs73490568
|
0.04056
|
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr)
|
rs746748
|
0.04054
|
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp)
|
rs35333195
|
0.04044
|
NM_002506.3(NGF):c.54G>A (p.Ala18=)
|
rs6325
|
0.04032
|
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala)
|
rs74641549
|
0.04030
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)
|
rs112723255
|
0.04015
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_015046.7(SETX):c.*1700G>T
|
rs75682594
|
0.03993
|
NM_001386140.1(MTTP):c.1769+14C>T
|
rs41275713
|
0.03960
|
NM_006158.5(NEFL):c.*1100C>T
|
rs79736124
|
0.03959
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
NM_000156.6(GAMT):c.571-6G>A
|
rs2074899
|
0.03927
|
NM_016156.6(MTMR2):c.*2014T>G
|
rs112404010
|
0.03885
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)
|
rs13420401
|
0.03855
|
NM_004544.4(NDUFA10):c.*3075T>G
|
rs7588974
|
0.03737
|
NM_001365536.1(SCN9A):c.*129C>T
|
rs16851759
|
0.03731
|
NM_001127649.3(PEX26):c.*754A>G
|
rs114146293
|
0.03730
|
NM_000318.3(PEX2):c.*1141G>A
|
rs10108054
|
0.03721
|
NM_000318.3(PEX2):c.*1909G>T
|
rs112352942
|
0.03714
|
NM_000318.3(PEX2):c.*2446C>T
|
rs73242165
|
0.03710
|
NM_014365.3(HSPB8):c.*440C>G
|
rs13378054
|
0.03707
|
NM_004637.6(RAB7A):c.*181G>A
|
rs3206306
|
0.03706
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_004863.4(SPTLC2):c.*1742C>T
|
rs9323644
|
0.03686
|
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996
|
0.03685
|
NM_001136472.2(LITAF):c.*1415C>A
|
rs80119580
|
0.03674
|
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn)
|
rs10465613
|
0.03661
|
NM_000318.3(PEX2):c.24G>A (p.Ala8=)
|
rs9298285
|
0.03660
|
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)
|
rs61735578
|
0.03636
|
NM_004637.6(RAB7A):c.*997T>C
|
rs3755593
|
0.03614
|
NM_000284.4(PDHA1):c.-88G>A
|
rs5955751
|
0.03606
|
NM_001122955.4(BSCL2):c.765+15C>T
|
rs79586077
|
0.03596
|
NM_006096.4(NDRG1):c.*834T>A
|
rs79281324
|
0.03589
|
NM_000217.3(KCNA1):c.-959C>T
|
rs11831584
|
0.03555
|
NM_000217.3(KCNA1):c.-134G>T
|
rs12817318
|
0.03550
|
NM_001370298.3(FGD4):c.*3630T>C
|
rs73313005
|
0.03542
|
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=)
|
rs113012830
|
0.03541
|
NM_001370298.3(FGD4):c.*4128C>T
|
rs12312970
|
0.03539
|
NM_001113491.2(SEPTIN9):c.76+12812C>T
|
rs75147264
|
0.03538
|
NM_000318.3(PEX2):c.*2338C>T
|
rs56231626
|
0.03506
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_002857.4(PEX19):c.*487T>A
|
rs16831724
|
0.03465
|
NM_001953.5(TYMP):c.831G>A (p.Leu277=)
|
rs8141558
|
0.03453
|
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu)
|
rs75690855
|
0.03450
|
NM_001113491.2(SEPTIN9):c.*377T>G
|
rs9904206
|
0.03447
|
NM_001005361.3(DNM2):c.*385C>T
|
rs78160240
|
0.03446
|
NM_024577.4(SH3TC2):c.*21472A>G
|
rs59731646
|
0.03434
|
NM_001136472.2(LITAF):c.*816T>A
|
rs7187810
|
0.03432
|
NM_002617.4(PEX10):c.*11G>A
|
rs3795270
|
0.03427
|
NM_018319.4(TDP1):c.1107T>C (p.Asn369=)
|
rs10151377
|
0.03424
|
NM_000318.3(PEX2):c.*2142A>G
|
rs79700176
|
0.03415
|
NM_181882.3(PRX):c.2017A>G (p.Met673Val)
|
rs61735531
|
0.03414
|
NM_002529.4(NTRK1):c.1860C>T (p.Gly620=)
|
rs6338
|
0.03397
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_004637.6(RAB7A):c.*183A>G
|
rs774054837
|
0.03357
|
NM_012073.5(CCT5):c.738G>A (p.Ala246=)
|
rs11557649
|
0.03346
|
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr)
|
rs61733811
|
0.03341
|
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=)
|
rs78120278
|
0.03339
|
NM_001034850.3(RETREG1):c.*592G>A
|
rs2401881
|
0.03326
|
NM_002529.4(NTRK1):c.2052A>G (p.Gly684=)
|
rs34271945
|
0.03311
|
NM_181882.3(PRX):c.2727C>T (p.Pro909=)
|
rs61735546
|
0.03308
|
NM_001365536.1(SCN9A):c.*1492C>G
|
rs73017542
|
0.03296
|
NM_000318.3(PEX2):c.*1696C>T
|
rs112199677
|
0.03286
|
NM_001723.7(DST):c.4980A>C (p.Val1660=)
|
rs2230863
|
0.03282
|
NM_000166.6(GJB1):c.*117C>T
|
rs41307256
|
0.03266
|
NM_005006.7(NDUFS1):c.*733A>G
|
rs6707707
|
0.03241
|
NM_198252.3(GSN):c.232G>A (p.Ala78Thr)
|
rs2230287
|
0.03231
|
NM_006096.4(NDRG1):c.*866A>T
|
rs16904865
|
0.03230
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001365536.1(SCN9A):c.*2136C>G
|
rs77050817
|
0.03222
|
NM_001723.7(DST):c.5055T>C (p.Asn1685=)
|
rs2230864
|
0.03211
|
NM_024577.4(SH3TC2):c.*17317G>A
|
rs78254952
|
0.03209
|
NM_024577.4(SH3TC2):c.*2397G>A
|
rs17722155
|
0.03207
|
NM_024577.4(SH3TC2):c.*3860G>A
|
rs1432797
|
0.03207
|
NM_024577.4(SH3TC2):c.*10485G>A
|
rs76931184
|
0.03206
|
NM_024577.4(SH3TC2):c.*6162C>T
|
rs17795115
|
0.03204
|
NM_022041.4(GAN):c.*81T>C
|
rs78835723
|
0.03196
|
NM_000217.3(KCNA1):c.-731C>G
|
rs74058081
|
0.03186
|
NM_000143.4(FH):c.1302C>T (p.Cys434=)
|
rs2070080
|
0.03163
|
NM_000153.4(GALC):c.330C>T (p.Asp110=)
|
rs11552556
|
0.03162
|
NM_018319.4(TDP1):c.*393T>C
|
rs7150480
|
0.03142
|
NM_024577.4(SH3TC2):c.*2900G>T
|
rs3763019
|
0.03116
|
NM_002857.4(PEX19):c.*1084T>C
|
rs77962224
|
0.03113
|
NM_024577.4(SH3TC2):c.*11120G>A
|
rs2069087
|
0.03085
|
NM_024577.4(SH3TC2):c.*2428C>T
|
rs149384180
|
0.03078
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_005908.4(MANBA):c.*317A>G
|
rs78514870
|
0.03053
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_030962.4(SBF2):c.4933-15T>C
|
rs75447733
|
0.03044
|
NM_001365536.1(SCN9A):c.*1184T>G
|
rs11902920
|
0.03035
|
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_198252.3(GSN):c.1535C>G (p.Thr512Ser)
|
rs77681311
|
0.02987
|
NM_006096.4(NDRG1):c.*1622T>G
|
rs7825439
|
0.02986
|
NM_000081.4(LYST):c.7857T>C (p.His2619=)
|
rs34160788
|
0.02966
|
NM_004813.2(PEX16):c.-279G>A
|
rs2280330
|
0.02963
|
NM_000081.4(LYST):c.6900G>A (p.Leu2300=)
|
rs10926586
|
0.02954
|
NM_002047.2(GARS1):c.-217A>G
|
rs2970504
|
0.02929
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_000081.4(LYST):c.7137A>C (p.Leu2379=)
|
rs61738992
|
0.02884
|
NM_000143.4(FH):c.309C>T (p.Ala103=)
|
rs10926501
|
0.02876
|
NM_133259.4(LRPPRC):c.3570-3C>T
|
rs35113761
|
0.02876
|
NM_020312.4(COQ9):c.102G>A (p.Pro34=)
|
rs223864
|
0.02864
|
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293
|
0.02854
|
NM_005006.7(NDUFS1):c.*256C>T
|
rs10198830
|
0.02838
|
NM_005006.7(NDUFS1):c.551+14C>A
|
rs10206644
|
0.02838
|
NM_004376.5(COX15):c.*3661T>C
|
rs73345141
|
0.02836
|
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)
|
rs2230890
|
0.02835
|
NM_012073.5(CCT5):c.*856A>C
|
rs72738998
|
0.02833
|
NM_001113491.2(SEPTIN9):c.*283C>T
|
rs9897357
|
0.02822
|
NM_000487.6(ARSA):c.*1076A>T
|
rs114833506
|
0.02807
|
NM_000487.6(ARSA):c.*1769A>G
|
rs56788262
|
0.02807
|
NM_001303.4(COX10):c.1038G>A (p.Ser346=)
|
rs2230355
|
0.02804
|
NM_004863.4(SPTLC2):c.*4198C>T
|
rs143542715
|
0.02771
|
NM_004863.4(SPTLC2):c.*5358T>C
|
rs8021886
|
0.02770
|
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)
|
rs3750904
|
0.02756
|
NM_000487.6(ARSA):c.-136C>G
|
rs6151408
|
0.02754
|
NM_004863.4(SPTLC2):c.*4914C>T
|
rs150007923
|
0.02739
|
NM_000487.6(ARSA):c.*2374C>A
|
rs11704557
|
0.02731
|
NM_000487.6(ARSA):c.*503A>G
|
rs141494339
|
0.02726
|
NM_005138.3(SCO2):c.327C>T (p.His109=)
|
rs75485962
|
0.02713
|
NM_001370298.3(FGD4):c.*4652T>C
|
rs16920125
|
0.02707
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
NM_001042472.3(ABHD12):c.*454G>A
|
rs41309917
|
0.02689
|
NM_014365.3(HSPB8):c.-193T>C
|
rs11549401
|
0.02683
|
NM_001136472.2(LITAF):c.*421C>T
|
rs13336723
|
0.02660
|
NM_001127649.3(PEX26):c.*2878C>T
|
rs116424707
|
0.02655
|
NM_198252.3(GSN):c.29A>G (p.Lys10Arg)
|
rs115224458
|
0.02654
|
NM_018972.4(GDAP1):c.*1647C>T
|
rs115466662
|
0.02649
|
NM_003477.3(PDHX):c.641+4T>C
|
rs2767035
|
0.02645
|
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)
|
rs61737997
|
0.02621
|
NM_001127649.3(PEX26):c.*1608G>A
|
rs116824049
|
0.02602
|
NM_001540.5(HSPB1):c.*11C>T
|
rs1058872
|
0.02598
|
NM_014874.4(MFN2):c.-149-15T>G
|
rs114306601
|
0.02587
|
NM_004863.4(SPTLC2):c.-43C>T
|
rs7155278
|
0.02570
|
NM_001113491.2(SEPTIN9):c.*955C>T
|
rs116655270
|
0.02567
|
NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_002857.4(PEX19):c.*2417C>T
|
rs193290301
|
0.02557
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_002857.4(PEX19):c.433-11G>T
|
rs41265791
|
0.02551
|
NM_005006.7(NDUFS1):c.*158T>C
|
rs3770989
|
0.02543
|
NM_001374736.1(DST):c.4930-367C>T
|
rs150986597
|
0.02538
|
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)
|
rs112108739
|
0.02536
|
NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
NM_001113491.2(SEPTIN9):c.1042+10C>T
|
rs114550498
|
0.02534
|
NM_001723.7(DST):c.7765A>G (p.Ile2589Val)
|
rs150191284
|
0.02534
|
NM_001723.7(DST):c.6633A>G (p.Ala2211=)
|
rs115542549
|
0.02533
|
NM_018972.4(GDAP1):c.*2408G>A
|
rs11996204
|
0.02523
|
NM_000217.3(KCNA1):c.*5145T>C
|
rs11063406
|
0.02510
|
NM_001374736.1(DST):c.4452T>C (p.Asn1484=)
|
rs112640831
|
0.02508
|
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)
|
rs114619322
|
0.02505
|
NM_004813.4(PEX16):c.303C>T (p.Ala101=)
|
rs80275010
|
0.02501
|
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly)
|
rs114205971
|
0.02459
|
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val)
|
rs17855857
|
0.02444
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
NM_001127649.3(PEX26):c.*1003T>G
|
rs79085553
|
0.02437
|
NM_000143.4(FH):c.927G>A (p.Pro309=)
|
rs61737760
|
0.02428
|
NM_000487.6(ARSA):c.243C>T (p.Gly81=)
|
rs6151410
|
0.02425
|
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val)
|
rs74350038
|
0.02423
|
NM_005006.7(NDUFS1):c.123C>T (p.Val41=)
|
rs2230888
|
0.02420
|
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216
|
0.02416
|
NM_174936.4(PCSK9):c.*537del
|
rs72646535
|
0.02413
|
NM_000288.4(PEX7):c.-31G>A
|
rs115866467
|
0.02411
|
NM_001303.4(COX10):c.-63C>T
|
rs77877576
|
0.02405
|
NM_002496.4(NDUFS8):c.*40A>G
|
rs61329983
|
0.02403
|
NM_001374736.1(DST):c.4590T>G (p.Asn1530Lys)
|
rs35014998
|
0.02397
|
NM_001136472.2(LITAF):c.*143C>T
|
rs1801977
|
0.02394
|
NM_000318.3(PEX2):c.*458G>A
|
rs143201132
|
0.02392
|
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr)
|
rs34642241
|
0.02388
|
NM_033305.3(VPS13A):c.*942C>T
|
rs1048743
|
0.02380
|
NM_004565.3(PEX14):c.475G>A (p.Val159Met)
|
rs74052157
|
0.02375
|
NC_000012.12:g.109833413C>T
|
rs56079803
|
0.02373
|
NM_005908.4(MANBA):c.1482G>T (p.Leu494=)
|
rs74718667
|
0.02371
|
NM_024577.4(SH3TC2):c.*14411G>A
|
rs143623684
|
0.02369
|
NM_004544.4(NDUFA10):c.*3349G>A
|
rs77216981
|
0.02367
|
NM_033305.3(VPS13A):c.2964+13A>G
|
rs115996561
|
0.02367
|
NM_001127649.3(PEX26):c.*2701G>C
|
rs114075265
|
0.02360
|
NM_001386140.1(MTTP):c.*113G>C
|
rs112407688
|
0.02360
|
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)
|
rs113557405
|
0.02353
|
NM_012073.5(CCT5):c.*1377C>G
|
rs11956986
|
0.02353
|
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=)
|
rs78046172
|
0.02340
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
NM_001136472.2(LITAF):c.*439G>A
|
rs13337025
|
0.02310
|
NM_000287.4(PEX6):c.*212C>T
|
rs1051218
|
0.02308
|
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=)
|
rs76751358
|
0.02305
|
NM_014874.4(MFN2):c.*1161C>A
|
rs115706485
|
0.02302
|
NM_033305.3(VPS13A):c.2718A>G (p.Val906=)
|
rs79287753
|
0.02299
|
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys)
|
rs76077278
|
0.02297
|
NM_003477.3(PDHX):c.507C>T (p.Ile169=)
|
rs79170416
|
0.02292
|
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227
|
0.02289
|
NM_004082.5(DCTN1):c.*21C>T
|
rs11555696
|
0.02286
|
NM_000182.5(HADHA):c.1392+10G>A
|
rs60085478
|
0.02277
|
NM_022041.4(GAN):c.*2322T>G
|
rs11862952
|
0.02277
|
NM_002618.4(PEX13):c.*775G>A
|
rs143032208
|
0.02272
|
NM_006096.4(NDRG1):c.*264C>G
|
rs73711834
|
0.02269
|
NM_014317.5(PDSS1):c.*157T>G
|
rs1046187
|
0.02265
|
NM_001365536.1(SCN9A):c.3802-8T>C
|
rs76550960
|
0.02262
|
NM_002857.4(PEX19):c.*2637G>A
|
rs41265787
|
0.02253
|
NM_001042472.3(ABHD12):c.-94C>T
|
rs536190889
|
0.02252
|
NM_014845.6(FIG4):c.-120C>T
|
rs75045314
|
0.02248
|
NM_014874.4(MFN2):c.159C>T (p.Ser53=)
|
rs61733200
|
0.02240
|
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)
|
rs76708142
|
0.02223
|
NM_000166.6(GJB1):c.*163G>T
|
rs139775308
|
0.02210
|
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln)
|
rs74401238
|
0.02210
|
NM_001370298.3(FGD4):c.*4211T>C
|
rs75583772
|
0.02209
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
NM_002857.4(PEX19):c.*898A>G
|
rs8989
|
0.02188
|
NM_014874.4(MFN2):c.*1576C>T
|
rs78523898
|
0.02185
|
NM_000284.4(PDHA1):c.*392G>A
|
rs56318063
|
0.02182
|
NM_014845.6(FIG4):c.-121G>A
|
rs75509752
|
0.02164
|
NM_014874.4(MFN2):c.*730C>T
|
rs112550280
|
0.02163
|
NM_000371.4(TTR):c.*21C>A
|
rs12226
|
0.02158
|
NM_000287.4(PEX6):c.207C>T (p.Pro69=)
|
rs11539736
|
0.02141
|
NM_004813.4(PEX16):c.*438C>T
|
rs2280328
|
0.02139
|
NM_015046.7(SETX):c.*561A>C
|
rs73661150
|
0.02138
|
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803
|
0.02130
|
NM_001723.7(DST):c.3346C>T (p.His1116Tyr)
|
rs6909714
|
0.02098
|
NM_001351132.2(PEX5):c.*794_*795dup
|
rs112785895
|
0.02091
|
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
|
rs2274516
|
0.02086
|
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)
|
rs35881858
|
0.02080
|
NM_000166.6(GJB1):c.*34C>A
|
rs113014279
|
0.02074
|
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser)
|
rs73933276
|
0.02067
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=)
|
rs79914457
|
0.02054
|
NM_003680.3(YARS1):c.-442C>T
|
rs115959445
|
0.02048
|
NM_006329.4(FBLN5):c.*623A>T
|
rs77357345
|
0.02046
|
NM_001723.7(DST):c.3809A>G (p.Lys1270Arg)
|
rs35497571
|
0.02037
|
NM_001136472.2(LITAF):c.-6+681dup
|
rs398100090
|
0.02035
|
NM_024577.4(SH3TC2):c.*20207C>T
|
rs114079860
|
0.02033
|
NM_018319.4(TDP1):c.*539G>A
|
rs35090050
|
0.02032
|
NM_004376.5(COX15):c.*4473T>C
|
rs10490941
|
0.02022
|
NM_001127649.3(PEX26):c.*1627G>T
|
rs1056492732
|
0.01991
|
NM_000217.3(KCNA1):c.-839C>T
|
rs12303537
|
0.01982
|
NM_001303.4(COX10):c.83C>T (p.Thr28Ile)
|
rs16948978
|
0.01976
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129
|
0.01960
|
NM_133259.4(LRPPRC):c.*2176A>T
|
rs73924082
|
0.01948
|
NM_006096.4(NDRG1):c.*100G>A
|
rs2233348
|
0.01904
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_004376.5(COX15):c.*3817A>G
|
rs76530337
|
0.01896
|
NM_020312.4(COQ9):c.*411C>T
|
rs112075830
|
0.01875
|
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn)
|
rs61730662
|
0.01873
|
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala)
|
rs35035668
|
0.01872
|
NM_006096.4(NDRG1):c.*1135G>A
|
rs10675
|
0.01865
|
NM_000371.3(TTR):c.*261C>T
|
rs62093482
|
0.01852
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790
|
0.01850
|
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala)
|
rs78048112
|
0.01850
|
NM_016156.6(MTMR2):c.80+13C>T
|
rs139510268
|
0.01848
|
NM_001005373.4(LRSAM1):c.1830+6C>T
|
rs75171318
|
0.01846
|
NM_001127649.3(PEX26):c.*400C>T
|
rs74988725
|
0.01840
|
NM_001127649.3(PEX26):c.*692T>C
|
rs79936154
|
0.01840
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_002180.2(IGHMBP2):c.-68T>C
|
rs57258566
|
0.01836
|
NM_001127649.3(PEX26):c.*943G>A
|
rs79785382
|
0.01835
|
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=)
|
rs77878573
|
0.01828
|
NM_004813.4(PEX16):c.307G>A (p.Val103Met)
|
rs11553094
|
0.01821
|
NM_004637.6(RAB7A):c.*206G>A
|
rs16851333
|
0.01808
|
NM_000182.5(HADHA):c.1620+11G>C
|
rs112236946
|
0.01807
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met)
|
rs55909005
|
0.01791
|
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=)
|
rs34255276
|
0.01788
|
NM_003477.3(PDHX):c.531C>T (p.Pro177=)
|
rs76486106
|
0.01781
|
NM_133259.4(LRPPRC):c.*825A>G
|
rs17031753
|
0.01776
|
NM_001303.4(COX10):c.*438G>C
|
rs75823746
|
0.01767
|
NM_133259.4(LRPPRC):c.*1088G>C
|
rs79225555
|
0.01767
|
NM_001113491.2(SEPTIN9):c.*939A>G
|
rs74779723
|
0.01764
|
NM_001303.4(COX10):c.*974C>A
|
rs2071245
|
0.01762
|
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys)
|
rs16948986
|
0.01758
|
NM_001953.5(TYMP):c.204C>T (p.Gly68=)
|
rs34375653
|
0.01755
|
NM_024577.4(SH3TC2):c.2872+9G>A
|
rs76488338
|
0.01755
|
NM_000304.4(PMP22):c.*1120T>C
|
rs11654383
|
0.01749
|
NM_003477.3(PDHX):c.438C>T (p.Asp146=)
|
rs75182779
|
0.01749
|
NM_003477.3(PDHX):c.*123A>G
|
rs59918794
|
0.01748
|
NM_001374736.1(DST):c.4930-864A>C
|
rs17674547
|
0.01739
|
NM_001370658.1(BTD):c.-94C>T
|
rs114567021
|
0.01730
|
NM_005006.7(NDUFS1):c.*399G>A
|
rs77000728
|
0.01727
|
NM_002047.2(GARS1):c.-317G>A
|
rs116125961
|
0.01714
|
NM_001386140.1(MTTP):c.*279C>G
|
rs115807483
|
0.01703
|
NM_002857.4(PEX19):c.*328A>G
|
rs115260345
|
0.01698
|
NM_006329.4(FBLN5):c.*514A>G
|
rs17804735
|
0.01698
|
NM_006158.5(NEFL):c.*883G>C
|
rs76387248
|
0.01696
|
NM_000143.4(FH):c.*221_*222del
|
rs112946286
|
0.01684
|
NM_024577.4(SH3TC2):c.*12969C>A
|
rs76955068
|
0.01682
|
NM_030962.4(SBF2):c.3111-6T>C
|
rs16907139
|
0.01676
|
NM_022041.4(GAN):c.*1908A>C
|
rs11861082
|
0.01673
|
NM_014874.4(MFN2):c.*231G>A
|
rs41278636
|
0.01666
|
NM_018319.4(TDP1):c.-230-4G>T
|
rs28365053
|
0.01666
|
NM_016156.6(MTMR2):c.*2406C>T
|
rs16922613
|
0.01655
|
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
|
rs35214605
|
0.01652
|
NM_015046.7(SETX):c.*1052T>A
|
rs12349210
|
0.01647
|
NM_001303.4(COX10):c.*1267A>G
|
rs75844637
|
0.01645
|
NM_015046.7(SETX):c.*1288T>C
|
rs72765812
|
0.01645
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_020631.5(PLEKHG5):c.*765T>A
|
rs538175057
|
0.01642
|
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=)
|
rs145515678
|
0.01635
|
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=)
|
rs60803891
|
0.01632
|
NM_021625.5(TRPV4):c.387-4C>T
|
rs12305439
|
0.01630
|
NM_014874.4(MFN2):c.*777T>C
|
rs112854268
|
0.01628
|
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)
|
rs3007419
|
0.01628
|
NM_030962.4(SBF2):c.2850C>T (p.Ile950=)
|
rs74642088
|
0.01620
|
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)
|
rs113897932
|
0.01619
|
NM_000217.3(KCNA1):c.*4234A>G
|
rs61907267
|
0.01618
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)
|
rs2229520
|
0.01610
|
NM_001370298.3(FGD4):c.*2203T>C
|
rs41276678
|
0.01601
|
NM_012073.5(CCT5):c.437A>T (p.Glu146Val)
|
rs11557652
|
0.01601
|
NM_001127649.3(PEX26):c.-363G>C
|
rs138787474
|
0.01598
|
NM_024577.4(SH3TC2):c.*18299C>T
|
rs147903089
|
0.01595
|
NM_001351132.2(PEX5):c.*75G>A
|
rs112966367
|
0.01593
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770
|
0.01578
|
NM_017929.5(PEX26):c.-148C>T
|
rs115617644
|
0.01576
|
NM_015046.7(SETX):c.*849G>T
|
rs74975459
|
0.01559
|
NM_001365536.1(SCN9A):c.*2540C>T
|
rs58249489
|
0.01556
|
NM_014874.3(MFN2):c.-249T>A
|
rs2180182
|
0.01549
|
NM_014874.3(MFN2):c.-287C>T
|
rs2180181
|
0.01549
|
NM_001005373.4(LRSAM1):c.-316C>T
|
rs116498902
|
0.01548
|
NM_001303.4(COX10):c.*1101C>T
|
rs75165393
|
0.01548
|
NM_002496.4(NDUFS8):c.-45A>C
|
rs4147776
|
0.01538
|
NM_016156.6(MTMR2):c.*1952G>A
|
rs118033833
|
0.01538
|
NM_000530.8(MPZ):c.*624C>T
|
rs60821801
|
0.01537
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_024577.4(SH3TC2):c.*7810T>A
|
rs57517567
|
0.01532
|
NM_000286.3(PEX12):c.*636T>C
|
rs111424374
|
0.01528
|
NM_000153.4(GALC):c.*801A>T
|
rs114174103
|
0.01526
|
NM_000286.3(PEX12):c.*297T>C
|
rs113891712
|
0.01526
|
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641
|
0.01523
|
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)
|
rs75826658
|
0.01517
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
NM_014365.3(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602
|
0.01515
|
NM_004544.4(NDUFA10):c.*2511C>T
|
rs74540213
|
0.01512
|
NM_030962.4(SBF2):c.*1399T>C
|
rs60154961
|
0.01504
|
NM_030962.4(SBF2):c.*1413A>G
|
rs59613534
|
0.01502
|
NM_004168.4(SDHA):c.-4A>G
|
rs377134185
|
0.01501
|
NM_001113491.2(SEPTIN9):c.*1233C>T
|
rs77195002
|
0.01495
|
NM_181882.3(PRX):c.471G>A (p.Glu157=)
|
rs4803335
|
0.01488
|
NM_004637.6(RAB7A):c.-97C>G
|
rs141622970
|
0.01485
|
NM_078470.6(COX15):c.*1693G>A
|
rs74981084
|
0.01485
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_022041.4(GAN):c.*1273G>C
|
rs75176423
|
0.01472
|
NM_001370298.3(FGD4):c.1954-8T>C
|
rs115061722
|
0.01466
|
NM_000108.5(DLD):c.*855C>T
|
rs116055514
|
0.01464
|
NM_015046.7(SETX):c.*1224G>C
|
rs10491906
|
0.01458
|
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=)
|
rs17081163
|
0.01458
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
NM_022041.4(GAN):c.*159C>T
|
rs76000455
|
0.01456
|
NM_006415.4(SPTLC1):c.1255-7C>T
|
rs7863487
|
0.01454
|
NM_001136472.2(LITAF):c.*711G>T
|
rs117082330
|
0.01448
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_000304.4(PMP22):c.-74A>G
|
rs114365663
|
0.01441
|
NM_002778.4(PSAP):c.*775G>A
|
rs79662404
|
0.01440
|
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg)
|
rs35220041
|
0.01440
|
NM_004813.4(PEX16):c.*158A>C
|
rs79435202
|
0.01440
|
NM_133259.4(LRPPRC):c.*1435C>T
|
rs78163628
|
0.01439
|
NM_003680.3(YARS1):c.-623G>A
|
rs59686477
|
0.01434
|
NM_002857.4(PEX19):c.*2057T>G
|
rs56089807
|
0.01433
|
NM_078470.6(COX15):c.*1876A>G
|
rs115287270
|
0.01433
|
NM_001365536.1(SCN9A):c.*3038C>T
|
rs115766730
|
0.01421
|
NM_000274.4(OAT):c.-53C>T
|
rs117824913
|
0.01420
|
NM_000520.6(HEXA):c.*575G>A
|
rs76075374
|
0.01411
|
NM_181882.3(PRX):c.731C>T (p.Ala244Val)
|
rs118071705
|
0.01410
|
NM_020247.5(COQ8A):c.-10+8T>C
|
rs145688619
|
0.01402
|
NM_033305.3(VPS13A):c.*1186A>G
|
rs3177
|
0.01392
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_006096.4(NDRG1):c.*653T>C
|
rs147301529
|
0.01388
|
NM_020631.4(PLEKHG5):c.*1313C>T
|
rs45574533
|
0.01380
|
NM_004376.5(COX15):c.*4218C>T
|
rs138423739
|
0.01377
|
NM_133259.4(LRPPRC):c.*1371C>T
|
rs111381413
|
0.01377
|
NM_002857.4(PEX19):c.879T>C (p.Gly293=)
|
rs74125561
|
0.01375
|
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=)
|
rs73466058
|
0.01375
|
NM_001370298.3(FGD4):c.*4454G>A
|
rs147515673
|
0.01373
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn)
|
rs73467962
|
0.01369
|
NM_006329.4(FBLN5):c.989+13G>A
|
rs74071605
|
0.01368
|
NM_004565.3(PEX14):c.513C>A (p.Ala171=)
|
rs35046754
|
0.01363
|
NM_014874.4(MFN2):c.2205-13C>A
|
rs76020240
|
0.01362
|
NM_001136472.2(LITAF):c.*1493T>G
|
rs77423500
|
0.01358
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
NM_001136472.2(LITAF):c.*933C>T
|
rs75472256
|
0.01353
|
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=)
|
rs73654012
|
0.01345
|
NM_001370298.3(FGD4):c.*3340A>C
|
rs75320947
|
0.01342
|
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
|
rs12478318
|
0.01339
|
NM_006329.4(FBLN5):c.863-13C>T
|
rs74071606
|
0.01336
|
NM_004637.6(RAB7A):c.-29G>T
|
rs112000804
|
0.01334
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507
|
0.01328
|
NM_004589.4(SCO1):c.297A>G (p.Ala99=)
|
rs11538237
|
0.01326
|
NM_001351132.2(PEX5):c.-17+188T>C
|
rs186539500
|
0.01324
|
NM_000370.3(TTPA):c.*1404G>A
|
rs56675911
|
0.01322
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=)
|
rs73449933
|
0.01319
|
NM_020312.4(COQ9):c.921+13C>T
|
rs115677652
|
0.01317
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_000217.3(KCNA1):c.*2308C>G
|
rs114342545
|
0.01314
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_001374736.1(DST):c.4062C>T (p.Val1354=)
|
rs78600049
|
0.01311
|
NM_024577.4(SH3TC2):c.*14750A>G
|
rs149133999
|
0.01302
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_001605.3(AARS1):c.*251A>C
|
rs116553521
|
0.01298
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_024577.4(SH3TC2):c.*10767G>A
|
rs139720866
|
0.01293
|
NM_001113491.2(SEPTIN9):c.*783A>G
|
rs76051887
|
0.01291
|
NM_001122955.4(BSCL2):c.88-662C>A
|
rs117597269
|
0.01291
|
NM_006096.4(NDRG1):c.892-5C>T
|
rs2233346
|
0.01290
|
NM_000217.3(KCNA1):c.*3724C>T
|
rs73050554
|
0.01288
|
NM_006415.4(SPTLC1):c.781-6A>G
|
rs138268337
|
0.01288
|
NM_198252.3(GSN):c.538A>G (p.Asn180Asp)
|
rs11550199
|
0.01287
|
NM_001370298.3(FGD4):c.167-61799G>C
|
rs77113168
|
0.01285
|
NM_004082.5(DCTN1):c.1288-3C>T
|
rs72466490
|
0.01285
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)
|
rs11549709
|
0.01280
|
NM_001127649.3(PEX26):c.*464A>G
|
rs141229564
|
0.01278
|
NM_002529.4(NTRK1):c.2047-11G>A
|
rs79173278
|
0.01269
|
NM_000530.8(MPZ):c.*568C>G
|
rs60731755
|
0.01265
|
NM_001365536.1(SCN9A):c.*235T>C
|
rs140553451
|
0.01263
|
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln)
|
rs111282915
|
0.01262
|
NM_001365536.1(SCN9A):c.*2155G>A
|
rs77565541
|
0.01260
|
NM_004544.4(NDUFA10):c.*396C>G
|
rs73103629
|
0.01256
|
NM_024577.4(SH3TC2):c.*4279C>G
|
rs74578025
|
0.01256
|
NM_006096.4(NDRG1):c.306C>T (p.Gly102=)
|
rs2233322
|
0.01251
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
NM_004863.4(SPTLC2):c.*4431G>T
|
rs75823402
|
0.01241
|
NM_015046.7(SETX):c.*351G>T
|
rs117409290
|
0.01236
|
NM_004863.4(SPTLC2):c.*4503A>G
|
rs78947178
|
0.01233
|
NM_033305.3(VPS13A):c.7806+6A>G
|
rs74810255
|
0.01231
|
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=)
|
rs34418677
|
0.01229
|
NM_001365536.1(SCN9A):c.*204G>A
|
rs111510277
|
0.01227
|
NM_006096.4(NDRG1):c.507G>A (p.Ala169=)
|
rs2233331
|
0.01225
|
NM_014845.5(FIG4):c.-182G>A
|
rs55873083
|
0.01220
|
NM_004082.5(DCTN1):c.34-11G>T
|
rs73948789
|
0.01216
|
NM_001370298.3(FGD4):c.*1007G>A
|
rs114843464
|
0.01214
|
NM_004544.4(NDUFA10):c.*1217A>G
|
rs116403651
|
0.01210
|
NM_004863.4(SPTLC2):c.*1014C>T
|
rs116563416
|
0.01210
|
NM_001370298.3(FGD4):c.*22G>A
|
rs114284024
|
0.01207
|
NM_002778.4(PSAP):c.-10A>G
|
rs76455588
|
0.01197
|
NM_006329.4(FBLN5):c.*326G>A
|
rs79375113
|
0.01197
|
NM_006329.4(FBLN5):c.*329T>C
|
rs115237925
|
0.01197
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_000371.3(TTR):c.*345G>A
|
rs58172837
|
0.01182
|
NM_001374736.1(DST):c.3492C>T (p.Asn1164=)
|
rs79026338
|
0.01176
|
NM_002506.3(NGF):c.239G>A (p.Arg80Gln)
|
rs11466111
|
0.01173
|
NM_020247.5(COQ8A):c.*133G>A
|
rs149820067
|
0.01173
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
NM_004376.5(COX15):c.*2640T>G
|
rs80332976
|
0.01155
|
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg)
|
rs116340501
|
0.01154
|
NM_020631.6(PLEKHG5):c.795+8G>A
|
rs114275646
|
0.01154
|
NM_000217.3(KCNA1):c.*1522C>G
|
rs140297443
|
0.01151
|
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=)
|
rs4494798
|
0.01150
|
NM_014845.6(FIG4):c.*7C>T
|
rs113946190
|
0.01145
|
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)
|
rs34432513
|
0.01144
|
NM_006096.4(NDRG1):c.*69C>T
|
rs114738844
|
0.01142
|
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155
|
0.01137
|
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His)
|
rs61750053
|
0.01134
|
NM_020631.5(PLEKHG5):c.*843G>T
|
rs12735472
|
0.01132
|
NM_004544.4(NDUFA10):c.*2133A>G
|
rs6736791
|
0.01130
|
NM_002618.4(PEX13):c.*1652G>A
|
rs72877535
|
0.01126
|
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)
|
rs2230892
|
0.01121
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
NM_003560.4(PLA2G6):c.*589C>G
|
rs11570771
|
0.01112
|
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)
|
rs55958233
|
0.01103
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_001127649.3(PEX26):c.*1778C>T
|
rs79447039
|
0.01095
|
NM_001127649.3(PEX26):c.*1957G>A
|
rs11913772
|
0.01094
|
NM_001351132.2(PEX5):c.1718+13A>G
|
rs116873137
|
0.01093
|
NM_001723.7(DST):c.4289C>T (p.Ala1430Val)
|
rs78701610
|
0.01093
|
NM_001723.7(DST):c.5485C>G (p.Gln1829Glu)
|
rs79943354
|
0.01087
|
NM_000318.3(PEX2):c.*1601T>A
|
rs116949534
|
0.01081
|
NM_004544.4(NDUFA10):c.*1878C>T
|
rs80067639
|
0.01081
|
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)
|
rs624147
|
0.01079
|
NM_015046.7(SETX):c.*548A>T
|
rs139883935
|
0.01078
|
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly)
|
rs61733451
|
0.01078
|
NM_004565.3(PEX14):c.768G>A (p.Val256=)
|
rs36083022
|
0.01070
|
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln)
|
rs146789340
|
0.01068
|
NM_014317.4(PDSS1):c.-29C>T
|
rs537781419
|
0.01066
|
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)
|
rs79251068
|
0.01066
|
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382
|
0.01064
|
NM_004863.4(SPTLC2):c.*5395C>G
|
rs13430
|
0.01060
|
NM_024577.4(SH3TC2):c.*2237G>A
|
rs76481943
|
0.01060
|
NM_001303.4(COX10):c.*1079G>A
|
rs116445114
|
0.01056
|
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=)
|
rs3765043
|
0.01048
|
NM_012073.5(CCT5):c.*866A>C
|
rs114441137
|
0.01043
|
NM_018319.4(TDP1):c.*799A>G
|
rs35437984
|
0.01042
|
NM_003630.3(PEX3):c.*205C>A
|
rs78091135
|
0.01040
|
NM_024577.4(SH3TC2):c.*14894G>A
|
rs17109192
|
0.01038
|
NM_003172.4(SURF1):c.543C>T (p.Phe181=)
|
rs62637580
|
0.01036
|
NM_001374736.1(DST):c.4831-3C>A
|
rs115890942
|
0.01035
|
NM_001351132.2(PEX5):c.*960C>G
|
rs78134587
|
0.01032
|
NM_001113491.2(SEPTIN9):c.1125-5C>T
|
rs73377525
|
0.01030
|
NM_005908.4(MANBA):c.178-8A>G
|
rs113584126
|
0.01028
|
NM_000284.4(PDHA1):c.*1563C>G
|
rs7883708
|
0.01025
|
NM_000318.3(PEX2):c.*1242A>G
|
rs73691481
|
0.01024
|
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg)
|
rs114049933
|
0.01021
|
NM_001113491.2(SEPTIN9):c.76+13049A>G
|
rs140915871
|
0.01020
|
NM_000318.3(PEX2):c.*2306A>G
|
rs59296540
|
0.01019
|
NM_000318.3(PEX2):c.*2554G>A
|
rs116215385
|
0.01018
|
NM_004544.4(NDUFA10):c.*3544C>T
|
rs114944621
|
0.01013
|
NM_002529.4(NTRK1):c.1331G>A (p.Arg444Gln)
|
rs56320207
|
0.01010
|
NM_016156.6(MTMR2):c.*85A>C
|
rs578159
|
0.01009
|
NM_005006.7(NDUFS1):c.*574T>G
|
rs73065790
|
0.01005
|
NM_000487.6(ARSA):c.624T>C (p.His208=)
|
rs113990230
|
0.01000
|
NM_000284.4(PDHA1):c.*1682T>C
|
rs55744630
|
0.00998
|
NM_022041.4(GAN):c.46C>T (p.Leu16=)
|
rs77470936
|
0.00993
|
NM_001365536.1(SCN9A):c.*958C>T
|
rs143727895
|
0.00990
|
NM_001136472.2(LITAF):c.234G>A (p.Thr78=)
|
rs9282774
|
0.00987
|
NM_000108.5(DLD):c.*648G>A
|
rs57801571
|
0.00985
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp)
|
rs113974315
|
0.00985
|
NM_000399.5(EGR2):c.*429G>A
|
rs114237833
|
0.00979
|
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=)
|
rs142903301
|
0.00977
|
NM_002618.4(PEX13):c.*1943G>A
|
rs183689971
|
0.00973
|
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_001953.5(TYMP):c.214+13G>A
|
rs74624637
|
0.00960
|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)
|
rs16999593
|
0.00959
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_015046.7(SETX):c.-124C>T
|
rs114850064
|
0.00959
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_004863.4(SPTLC2):c.*3224C>T
|
rs77200167
|
0.00956
|
NM_020312.4(COQ9):c.*545G>T
|
rs115123016
|
0.00954
|
NM_000399.5(EGR2):c.169+10G>T
|
rs114201658
|
0.00953
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=)
|
rs61749272
|
0.00952
|
NM_001113491.2(SEPTIN9):c.1043-4G>A
|
rs147213134
|
0.00950
|
NM_005138.3(SCO2):c.776C>T (p.Ala259Val)
|
rs8139305
|
0.00949
|
NM_001374736.1(DST):c.4200A>G (p.Lys1400=)
|
rs35715547
|
0.00947
|
NM_002529.4(NTRK1):c.288-8C>T
|
rs80026148
|
0.00947
|
NM_133259.4(LRPPRC):c.*1343G>C
|
rs75002669
|
0.00947
|
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)
|
rs12941376
|
0.00945
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)
|
rs41289969
|
0.00944
|
NM_000108.5(DLD):c.*1300A>G
|
rs77095705
|
0.00939
|
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=)
|
rs61741225
|
0.00939
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_000217.3(KCNA1):c.*228A>C
|
rs142908193
|
0.00937
|
NM_001370298.3(FGD4):c.*4063A>G
|
rs62642552
|
0.00933
|
NM_001370298.3(FGD4):c.*792A>T
|
rs140601094
|
0.00932
|
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=)
|
rs115565179
|
0.00932
|
NM_003477.3(PDHX):c.*114A>G
|
rs76663700
|
0.00931
|
NM_004863.4(SPTLC2):c.*3812C>T
|
rs74730673
|
0.00930
|
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser)
|
rs35715497
|
0.00925
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_001005361.3(DNM2):c.1782-11C>T
|
rs78580529
|
0.00921
|
NM_004863.4(SPTLC2):c.*1221A>G
|
rs80244932
|
0.00919
|
NM_004863.4(SPTLC2):c.*3034C>G
|
rs75977251
|
0.00919
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
NM_078470.6(COX15):c.548G>A (p.Arg183His)
|
rs35483721
|
0.00915
|
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys)
|
rs12070353
|
0.00912
|
NM_004565.3(PEX14):c.213C>G (p.Gly71=)
|
rs41274482
|
0.00899
|
NM_078470.6(COX15):c.*1197T>C
|
rs149696723
|
0.00897
|
NM_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
NM_024577.4(SH3TC2):c.*8533A>G
|
rs139372772
|
0.00891
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_024577.4(SH3TC2):c.*6242A>G
|
rs142279453
|
0.00889
|
NM_024577.4(SH3TC2):c.*122G>T
|
rs114151926
|
0.00888
|
NM_001386140.1(MTTP):c.*515G>A
|
rs116005476
|
0.00885
|
NM_000217.3(KCNA1):c.*2123A>G
|
rs77647135
|
0.00881
|
NM_024577.4(SH3TC2):c.*11604G>A
|
rs143229015
|
0.00876
|
NM_001113491.2(SEPTIN9):c.*260C>T
|
rs28364840
|
0.00872
|
NM_030962.4(SBF2):c.*177A>C
|
rs192542785
|
0.00872
|
NM_198252.3(GSN):c.1239A>G (p.Thr413=)
|
rs149375418
|
0.00861
|
NM_024577.4(SH3TC2):c.*8053G>A
|
rs115027318
|
0.00859
|
NM_006096.4(NDRG1):c.*1294T>C
|
rs144034977
|
0.00858
|
NM_020247.5(COQ8A):c.*790A>G
|
rs12565212
|
0.00855
|
NM_024577.4(SH3TC2):c.*10864G>A
|
rs189701174
|
0.00853
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
NM_001374736.1(DST):c.4930-300A>T
|
rs75951731
|
0.00849
|
NM_004544.4(NDUFA10):c.*407C>T
|
rs74614612
|
0.00847
|
NM_002617.4(PEX10):c.843G>A (p.Arg281=)
|
rs35082957
|
0.00846
|
NM_024577.4(SH3TC2):c.*12807G>A
|
rs150317192
|
0.00846
|
NM_022041.4(GAN):c.*1268C>T
|
rs182391687
|
0.00845
|
NM_024577.4(SH3TC2):c.*3694T>A
|
rs115774169
|
0.00844
|
NM_014874.4(MFN2):c.*304A>G
|
rs80118679
|
0.00841
|
NM_001113491.2(SEPTIN9):c.*373G>A
|
rs139898898
|
0.00838
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_000304.4(PMP22):c.-86A>C
|
rs140650630
|
0.00832
|
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=)
|
rs114209691
|
0.00830
|
NM_006096.4(NDRG1):c.199A>G (p.Met67Val)
|
rs2233319
|
0.00829
|
NM_000530.8(MPZ):c.*195G>T
|
rs150182811
|
0.00828
|
NM_030962.4(SBF2):c.*291C>T
|
rs114604750
|
0.00828
|
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=)
|
rs115993634
|
0.00825
|
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)
|
rs116727742
|
0.00819
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00817
|
NM_133259.4(LRPPRC):c.*734A>G
|
rs114517881
|
0.00810
|
NM_000217.3(KCNA1):c.*1892C>T
|
rs146972463
|
0.00806
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_000784.3(CYP27A1):c.-370T>C
|
rs182545847
|
0.00800
|
NM_020631.6(PLEKHG5):c.*63C>T
|
rs45446394
|
0.00800
|
NM_000217.3(KCNA1):c.*2005G>A
|
rs76783799
|
0.00798
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_018972.4(GDAP1):c.*2298A>G
|
rs4551344
|
0.00796
|
NM_002180.3(IGHMBP2):c.*22C>T
|
rs80298715
|
0.00795
|
NM_004544.4(NDUFA10):c.*647C>T
|
rs116254382
|
0.00794
|
NM_000466.3(PEX1):c.2901G>A (p.Gln967=)
|
rs111704518
|
0.00792
|
NM_001370298.3(FGD4):c.1247+10G>T
|
rs41276676
|
0.00792
|
NM_004813.4(PEX16):c.*65T>C
|
rs16938413
|
0.00789
|
NM_006415.4(SPTLC1):c.*490A>G
|
rs115637483
|
0.00786
|
NM_020631.6(PLEKHG5):c.*108G>A
|
rs11800788
|
0.00786
|
NM_002778.3(PSAP):c.-65C>T
|
rs145948209
|
0.00785
|
NM_000274.4(OAT):c.200-10T>C
|
rs80313473
|
0.00780
|
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)
|
rs114389264
|
0.00778
|
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297
|
0.00777
|
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)
|
rs59209175
|
0.00776
|
NM_006158.5(NEFL):c.*1155T>G
|
rs116881703
|
0.00773
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054
|
0.00771
|
NM_000153.4(GALC):c.*395C>T
|
rs3850376
|
0.00770
|
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met)
|
rs11904930
|
0.00770
|
NM_024577.4(SH3TC2):c.*16947C>T
|
rs142551288
|
0.00770
|
NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser)
|
rs35258119
|
0.00768
|
NM_012073.5(CCT5):c.1194G>A (p.Ala398=)
|
rs113262482
|
0.00768
|
NM_022041.4(GAN):c.*2584A>G
|
rs117621048
|
0.00767
|
NM_078470.6(COX15):c.-23G>T
|
rs2231678
|
0.00765
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
NM_033305.3(VPS13A):c.228T>C (p.Thr76=)
|
rs115443572
|
0.00762
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_000399.5(EGR2):c.*288G>A
|
rs117395928
|
0.00758
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_000158.4(GBE1):c.*308C>T
|
rs141214861
|
0.00757
|
NM_001370298.3(FGD4):c.1470C>T (p.Pro490=)
|
rs16920084
|
0.00752
|
NM_030962.4(SBF2):c.*51T>C
|
rs41275194
|
0.00749
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
NM_004376.6(COX15):c.-149G>T
|
rs139698647
|
0.00745
|
NM_006158.5(NEFL):c.*1344G>A
|
rs79034217
|
0.00743
|
NM_001042472.3(ABHD12):c.*541G>A
|
rs41304802
|
0.00734
|
NM_021830.5(TWNK):c.-241C>T
|
rs113159821
|
0.00734
|
NM_000370.3(TTPA):c.*578T>C
|
rs886063065
|
0.00730
|
NM_000286.3(PEX12):c.*781T>A
|
rs185900922
|
0.00728
|
NM_007103.3(NDUFV1):c.-74T>C
|
rs373383800
|
0.00728
|
NM_001303.4(COX10):c.682C>T (p.Arg228Cys)
|
rs114521946
|
0.00727
|
NM_002506.3(NGF):c.214G>A (p.Val72Met)
|
rs11466110
|
0.00727
|
NM_004376.5(COX15):c.*2701C>T
|
rs114201692
|
0.00727
|
NM_030962.4(SBF2):c.*1315A>C
|
rs360125
|
0.00723
|
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_000487.6(ARSA):c.*992G>A
|
rs376910590
|
0.00717
|
NM_000370.3(TTPA):c.*782C>T
|
rs114278576
|
0.00716
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
NM_003680.4(YARS1):c.*681T>G
|
rs78319035
|
0.00714
|
NM_004863.4(SPTLC2):c.*1729G>A
|
rs143610997
|
0.00712
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
NM_024577.4(SH3TC2):c.*4052T>C
|
rs147125913
|
0.00707
|
NM_004544.4(NDUFA10):c.*1453G>A
|
rs192964209
|
0.00706
|
NM_078470.6(COX15):c.*1591C>T
|
rs190369277
|
0.00705
|
NM_001365536.1(SCN9A):c.-294T>C
|
rs141521157
|
0.00704
|
NM_078470.6(COX15):c.*1590A>C
|
rs181768654
|
0.00704
|
NM_018972.4(GDAP1):c.*561C>G
|
rs80136809
|
0.00699
|
NM_001386140.1(MTTP):c.*267A>C
|
rs79992570
|
0.00692
|
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)
|
rs138683183
|
0.00691
|
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly)
|
rs116059308
|
0.00690
|
NM_014365.3(HSPB8):c.*581G>A
|
rs56754798
|
0.00690
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
NM_001127649.3(PEX26):c.*2162G>A
|
rs45489191
|
0.00688
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_002047.4(GARS1):c.*73A>G
|
rs113598818
|
0.00687
|
NM_030962.4(SBF2):c.1173A>G (p.Ala391=)
|
rs79470805
|
0.00687
|
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)
|
rs115180949
|
0.00686
|
NM_002617.4(PEX10):c.685G>C (p.Val229Leu)
|
rs139345520
|
0.00686
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_021625.5(TRPV4):c.1341C>T (p.His447=)
|
rs57316123
|
0.00683
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_006415.4(SPTLC1):c.*1170T>C
|
rs112076327
|
0.00675
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
NM_006415.4(SPTLC1):c.*124A>G
|
rs189582528
|
0.00666
|
NM_004863.4(SPTLC2):c.*4039T>C
|
rs117131683
|
0.00665
|
NM_001113491.2(SEPTIN9):c.*479C>A
|
rs28364841
|
0.00664
|
NM_000530.8(MPZ):c.*1048A>T
|
rs71639057
|
0.00663
|
NM_000217.3(KCNA1):c.*2080G>A
|
rs147644839
|
0.00661
|
NM_000274.4(OAT):c.-30+8C>T
|
rs552799531
|
0.00661
|
NM_020247.5(COQ8A):c.*727C>T
|
rs16846762
|
0.00659
|
NM_000153.4(GALC):c.1788C>T (p.Phe596=)
|
rs115018138
|
0.00658
|
NM_001370298.3(FGD4):c.*290G>A
|
rs79732949
|
0.00658
|
NM_020247.5(COQ8A):c.655+9G>A
|
rs146526153
|
0.00658
|
NM_000217.3(KCNA1):c.*1577A>T
|
rs79432803
|
0.00657
|
NM_000153.4(GALC):c.195+10A>G
|
rs191767015
|
0.00653
|
NM_024577.4(SH3TC2):c.*15489G>A
|
rs115194965
|
0.00652
|
NM_033305.3(VPS13A):c.8472-12C>T
|
rs115077471
|
0.00651
|
NM_002617.4(PEX10):c.318G>A (p.Leu106=)
|
rs146452560
|
0.00649
|
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688
|
0.00646
|
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)
|
rs115338343
|
0.00644
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_181882.3(PRX):c.2469G>A (p.Ala823=)
|
rs61733450
|
0.00644
|
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=)
|
rs146280301
|
0.00643
|
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys)
|
rs78314670
|
0.00642
|
NM_002047.2(GARS1):c.-225G>A
|
rs148593022
|
0.00641
|
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=)
|
rs139753431
|
0.00641
|
NM_000925.3(PDHB):c.-26G>A
|
rs201243189
|
0.00640
|
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)
|
rs34452707
|
0.00640
|
NM_018319.4(TDP1):c.1098A>G (p.Gln366=)
|
rs34563565
|
0.00639
|
NM_033305.3(VPS13A):c.3813-15T>C
|
rs145835861
|
0.00639
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_001374736.1(DST):c.2520A>C (p.Ser840=)
|
rs139336917
|
0.00635
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
NM_001005361.3(DNM2):c.1196+773C>T
|
rs150975494
|
0.00628
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)
|
rs35455108
|
0.00620
|
NM_018972.4(GDAP1):c.*444A>G
|
rs113377784
|
0.00620
|
NM_181882.3(PRX):c.4044G>C (p.Gly1348=)
|
rs76088917
|
0.00620
|
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)
|
rs34551839
|
0.00619
|
NM_001386140.1(MTTP):c.*588A>G
|
rs184236038
|
0.00619
|
NM_024577.4(SH3TC2):c.*6470T>C
|
rs185164450
|
0.00616
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
NM_005006.7(NDUFS1):c.-75A>G
|
rs138818421
|
0.00612
|
NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu)
|
rs41270303
|
0.00612
|
NM_018972.4(GDAP1):c.*1162T>C
|
rs113017051
|
0.00611
|
NM_000318.3(PEX2):c.*319A>G
|
rs78045204
|
0.00610
|
NM_022041.4(GAN):c.1239C>T (p.Ile413=)
|
rs61740238
|
0.00609
|
NM_001370298.3(FGD4):c.*4192G>T
|
rs77065831
|
0.00605
|
NM_002617.4(PEX10):c.-52_-51del
|
rs570192538
|
0.00605
|
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)
|
rs28763904
|
0.00604
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_002180.3(IGHMBP2):c.*744G>A
|
rs116625875
|
0.00591
|
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)
|
rs62640939
|
0.00591
|
NM_014874.4(MFN2):c.744C>T (p.Leu248=)
|
rs61733205
|
0.00591
|
NM_007103.4(NDUFV1):c.326+12G>A
|
rs184136353
|
0.00588
|
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512
|
0.00587
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_024577.4(SH3TC2):c.*15061C>T
|
rs115722370
|
0.00585
|
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=)
|
rs191388646
|
0.00585
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
NM_000081.4(LYST):c.7059+7G>A
|
rs111764031
|
0.00582
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly)
|
rs112601869
|
0.00580
|
NM_003630.3(PEX3):c.*958T>C
|
rs41285019
|
0.00578
|
NM_001365536.1(SCN9A):c.*377C>G
|
rs115464654
|
0.00575
|
NM_004863.4(SPTLC2):c.*4276G>A
|
rs116794186
|
0.00575
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=)
|
rs34426300
|
0.00573
|
NM_002778.4(PSAP):c.*122C>G
|
rs113284884
|
0.00572
|
NM_001195248.2(APTX):c.*806G>A
|
rs113556331
|
0.00570
|
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)
|
rs35462421
|
0.00570
|
NM_015046.7(SETX):c.*319C>T
|
rs1056912
|
0.00570
|
NM_000108.5(DLD):c.*887T>C
|
rs16872396
|
0.00569
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_000521.4(HEXB):c.276C>T (p.Thr92=)
|
rs140509633
|
0.00569
|
NM_001540.4(HSPB1):c.-46C>T
|
rs35907174
|
0.00569
|
NM_181882.3(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201
|
0.00569
|
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)
|
rs151091410
|
0.00568
|
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)
|
rs111529228
|
0.00567
|
NM_024577.4(SH3TC2):c.*16395G>T
|
rs116508083
|
0.00567
|
NM_020631.6(PLEKHG5):c.*27T>C
|
rs117494970
|
0.00566
|
NM_021625.5(TRPV4):c.*423G>A
|
rs151286044
|
0.00565
|
NM_000217.3(KCNA1):c.*786G>A
|
rs148607588
|
0.00564
|
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=)
|
rs6335
|
0.00563
|
NM_002529.4(NTRK1):c.2202G>A (p.Thr734=)
|
rs55668752
|
0.00562
|
NM_001365536.1(SCN9A):c.*2323G>T
|
rs142172527
|
0.00561
|
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=)
|
rs144475533
|
0.00560
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=)
|
rs114699935
|
0.00559
|
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)
|
rs34555341
|
0.00555
|
NM_024577.4(SH3TC2):c.*12190G>A
|
rs116091693
|
0.00555
|
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro)
|
rs35426403
|
0.00554
|
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=)
|
rs75443147
|
0.00552
|
NM_001034850.3(RETREG1):c.*235C>A
|
rs144074026
|
0.00551
|
NM_181882.3(PRX):c.1281C>T (p.Ile427=)
|
rs76960467
|
0.00551
|
NM_001005361.3(DNM2):c.*47G>A
|
rs367938944
|
0.00550
|
NM_001130823.3(DNMT1):c.2382-4C>T
|
rs74505694
|
0.00548
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_004565.3(PEX14):c.504G>A (p.Thr168=)
|
rs146781531
|
0.00548
|
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577
|
0.00548
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
NM_000158.4(GBE1):c.143+11A>C
|
rs145918282
|
0.00545
|
NM_000182.5(HADHA):c.*561C>T
|
rs115151034
|
0.00544
|
NM_006329.4(FBLN5):c.*423T>C
|
rs17731705
|
0.00543
|
NM_018319.4(TDP1):c.*1105A>G
|
rs34815305
|
0.00542
|
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611
|
0.00542
|
NM_002180.3(IGHMBP2):c.1538-8C>G
|
rs115320302
|
0.00540
|
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys)
|
rs34398018
|
0.00536
|
NM_002857.3(PEX19):c.-14T>G
|
rs2301297
|
0.00535
|
NM_024577.4(SH3TC2):c.*10101C>T
|
rs552099019
|
0.00533
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_000108.5(DLD):c.*1074C>G
|
rs149275540
|
0.00531
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_024577.4(SH3TC2):c.*10099A>T
|
rs570266229
|
0.00531
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_001351132.2(PEX5):c.*81A>C
|
rs183460108
|
0.00529
|
NM_001386140.1(MTTP):c.*796C>T
|
rs551084925
|
0.00527
|
NM_001113491.2(SEPTIN9):c.76+12730G>T
|
rs138208028
|
0.00526
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_024577.4(SH3TC2):c.*10052C>T
|
rs113802539
|
0.00525
|
NM_001127649.3(PEX26):c.*2311G>T
|
rs74714634
|
0.00524
|
NM_000318.3(PEX2):c.*1842G>C
|
rs184573256
|
0.00523
|
NM_001005373.4(LRSAM1):c.1044-9T>C
|
rs59501881
|
0.00523
|
NM_001127649.3(PEX26):c.*925A>G
|
rs115277831
|
0.00523
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_001723.7(DST):c.7491G>A (p.Lys2497=)
|
rs145891100
|
0.00518
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys)
|
rs77826284
|
0.00516
|
NM_015046.7(SETX):c.-107C>T
|
rs190832998
|
0.00516
|
NM_024577.4(SH3TC2):c.*19270G>A
|
rs149188140
|
0.00516
|
NM_001113491.2(SEPTIN9):c.1573+9C>T
|
rs148975193
|
0.00515
|
NM_018972.4(GDAP1):c.*2244T>C
|
rs113763295
|
0.00513
|
NM_001351132.2(PEX5):c.*20G>C
|
rs145760932
|
0.00512
|
NM_018972.4(GDAP1):c.*723G>A
|
rs116863614
|
0.00512
|
NM_000217.3(KCNA1):c.*3840G>A
|
rs148103166
|
0.00509
|
NM_198252.3(GSN):c.382G>A (p.Val128Met)
|
rs41305623
|
0.00507
|
NM_002047.4(GARS1):c.*67C>G
|
rs142498676
|
0.00506
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_018972.4(GDAP1):c.*920C>G
|
rs6982840
|
0.00506
|
NM_000487.6(ARSA):c.-330C>T
|
rs558023516
|
0.00504
|
NM_001370298.3(FGD4):c.*2487C>A
|
rs188600194
|
0.00503
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000182.5(HADHA):c.*331T>C
|
rs189483687
|
0.00500
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_003630.3(PEX3):c.*220G>A
|
rs117247312
|
0.00495
|
NM_024577.4(SH3TC2):c.*2862G>A
|
rs116548620
|
0.00495
|
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)
|
rs77822399
|
0.00494
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753
|
0.00494
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_024577.4(SH3TC2):c.*10120C>A
|
rs13355933
|
0.00493
|
NM_024577.4(SH3TC2):c.*47C>T
|
rs79738100
|
0.00493
|
NM_004863.4(SPTLC2):c.*2375C>T
|
rs147416393
|
0.00492
|
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser)
|
rs142155860
|
0.00492
|
NM_004863.4(SPTLC2):c.*3526A>T
|
rs530009301
|
0.00491
|
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met)
|
rs141675330
|
0.00491
|
NM_024577.4(SH3TC2):c.*7251A>G
|
rs73795731
|
0.00491
|
NM_030962.4(SBF2):c.-118G>T
|
rs563422015
|
0.00491
|
NM_030962.4(SBF2):c.645T>C (p.Phe215=)
|
rs148187321
|
0.00491
|
NM_000318.3(PEX2):c.*1040C>G
|
rs139337482
|
0.00490
|
NM_024577.4(SH3TC2):c.*13514A>G
|
rs78516040
|
0.00490
|
NM_000274.4(OAT):c.-38C>T
|
rs9422945
|
0.00489
|
NM_000520.5(HEXA):c.-59G>A
|
rs147174351
|
0.00489
|
NM_001351132.2(PEX5):c.*1097T>C
|
rs116107198
|
0.00489
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859
|
0.00486
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
NM_002778.4(PSAP):c.204C>T (p.Asp68=)
|
rs143981174
|
0.00484
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_018972.4(GDAP1):c.*61C>T
|
rs73345399
|
0.00483
|
NM_000108.5(DLD):c.*474T>C
|
rs16872391
|
0.00479
|
NM_000217.3(KCNA1):c.*127A>C
|
rs116918891
|
0.00476
|
NM_001136472.2(LITAF):c.*99C>T
|
rs149712652
|
0.00476
|
NM_000081.4(LYST):c.-5C>T
|
rs141317482
|
0.00475
|
NM_001370298.3(FGD4):c.*27G>A
|
rs150192477
|
0.00475
|
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)
|
rs144125742
|
0.00475
|
NM_004863.4(SPTLC2):c.*2699C>A
|
rs142877874
|
0.00475
|
NM_004544.3(NDUFA10):c.-92C>T
|
rs559797625
|
0.00474
|
NM_033305.3(VPS13A):c.*1458T>G
|
rs139050715
|
0.00474
|
NM_133259.4(LRPPRC):c.*399G>A
|
rs149268737
|
0.00473
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_024577.4(SH3TC2):c.*1246G>A
|
rs142628780
|
0.00469
|
NM_020631.4(PLEKHG5):c.*1052G>A
|
rs148036862
|
0.00467
|
NM_004863.4(SPTLC2):c.*4478C>A
|
rs145218669
|
0.00466
|
NM_018972.4(GDAP1):c.*1819T>C
|
rs141157275
|
0.00466
|
NM_024577.4(SH3TC2):c.*6600T>C
|
rs115541211
|
0.00464
|
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser)
|
rs146651455
|
0.00463
|
NM_024577.4(SH3TC2):c.*20512C>A
|
rs76577532
|
0.00463
|
NM_001303.4(COX10):c.*305A>G
|
rs143758001
|
0.00462
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=)
|
rs13436308
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_001365536.1(SCN9A):c.2517+6C>T
|
rs145316463
|
0.00460
|
NM_004544.3(NDUFA10):c.-93G>T
|
rs577432343
|
0.00460
|
NM_005006.7(NDUFS1):c.*341A>G
|
rs150214409
|
0.00460
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959
|
0.00460
|
NM_004168.4(SDHA):c.*249T>C
|
rs189989110
|
0.00459
|
NM_004863.4(SPTLC2):c.*1440G>T
|
rs116702345
|
0.00458
|
NM_001365536.1(SCN9A):c.*2662G>A
|
rs149873320
|
0.00457
|
NM_001370298.3(FGD4):c.*3367G>T
|
rs188648275
|
0.00457
|
NM_006329.4(FBLN5):c.502+15G>C
|
rs190933127
|
0.00456
|
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)
|
rs117336941
|
0.00456
|
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)
|
rs138652708
|
0.00454
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541
|
0.00454
|
NM_015046.7(SETX):c.*475A>C
|
rs60760878
|
0.00452
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_004565.3(PEX14):c.795A>G (p.Ser265=)
|
rs41274484
|
0.00451
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_004863.4(SPTLC2):c.*3274C>T
|
rs114274991
|
0.00449
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_002617.4(PEX10):c.*686C>G
|
rs41310349
|
0.00448
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_003680.3(YARS1):c.-539G>T
|
rs114349735
|
0.00447
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436
|
0.00446
|
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858
|
0.00446
|
NM_003630.3(PEX3):c.-4A>G
|
rs116692495
|
0.00446
|
NM_198252.3(GSN):c.196+7C>T
|
rs146379508
|
0.00444
|
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
|
rs148560273
|
0.00443
|
NM_020631.6(PLEKHG5):c.440-6A>G
|
rs202049535
|
0.00443
|
NM_004863.4(SPTLC2):c.*397G>T
|
rs140766311
|
0.00442
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_000217.3(KCNA1):c.*4635G>C
|
rs1045892
|
0.00438
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_002047.2(GARS1):c.-177T>C
|
rs78980639
|
0.00437
|
NM_000284.4(PDHA1):c.*1869G>C
|
rs15943
|
0.00434
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_004863.4(SPTLC2):c.506G>C (p.Gly169Ala)
|
rs75565823
|
0.00430
|
NM_018319.4(TDP1):c.*598G>A
|
rs34083314
|
0.00430
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_014874.4(MFN2):c.*1034C>T
|
rs56333319
|
0.00427
|
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)
|
rs148656796
|
0.00425
|
NM_018319.4(TDP1):c.1317+11G>A
|
rs36009827
|
0.00423
|
NM_001113491.2(SEPTIN9):c.1574-10C>T
|
rs192537441
|
0.00421
|
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)
|
rs34658653
|
0.00420
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
NM_024577.4(SH3TC2):c.*16169G>A
|
rs191600511
|
0.00417
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_002618.4(PEX13):c.*2356T>C
|
rs139999174
|
0.00416
|
NM_000286.3(PEX12):c.*509T>G
|
rs192370696
|
0.00415
|
NM_005908.4(MANBA):c.*521G>A
|
rs138999320
|
0.00415
|
NM_022041.4(GAN):c.*1113G>A
|
rs114880082
|
0.00415
|
NM_020354.5(ENTPD7):c.*4789T>C
|
rs148302095
|
0.00414
|
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly)
|
rs115693730
|
0.00414
|
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)
|
rs35973343
|
0.00413
|
NM_000182.5(HADHA):c.1690-6G>A
|
rs111662358
|
0.00412
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00412
|
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
NM_014317.5(PDSS1):c.162+13A>G
|
rs12571799
|
0.00410
|
NM_001370298.3(FGD4):c.*3676A>G
|
rs189489067
|
0.00409
|
NM_002617.4(PEX10):c.*676C>T
|
rs77863194
|
0.00408
|
NM_014845.6(FIG4):c.*14C>T
|
rs114136062
|
0.00408
|
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630
|
0.00407
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
NM_000182.5(HADHA):c.68-10T>G
|
rs144414842
|
0.00403
|
NM_002180.3(IGHMBP2):c.*425G>A
|
rs144205786
|
0.00401
|
NM_016156.6(MTMR2):c.*1684A>C
|
rs79576160
|
0.00401
|
NM_024577.4(SH3TC2):c.*3430T>A
|
rs184043381
|
0.00400
|
NM_001370298.3(FGD4):c.*1564T>C
|
rs77836862
|
0.00399
|
NM_004863.4(SPTLC2):c.1176+7G>A
|
rs74063297
|
0.00399
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_000521.4(HEXB):c.*40A>C
|
rs184908092
|
0.00397
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_004637.6(RAB7A):c.*163T>G
|
rs182521602
|
0.00395
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
NM_004863.4(SPTLC2):c.*5892C>A
|
rs140576195
|
0.00392
|
NM_133259.4(LRPPRC):c.*343C>T
|
rs144519599
|
0.00392
|
NM_016156.6(MTMR2):c.570+11T>C
|
rs182582445
|
0.00390
|
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291
|
0.00390
|
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)
|
rs145444300
|
0.00389
|
NM_012073.5(CCT5):c.*320T>C
|
rs186512015
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)
|
rs79901179
|
0.00388
|
NM_024577.4(SH3TC2):c.*8277G>A
|
rs147532508
|
0.00387
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
NM_001370658.1(BTD):c.*211G>A
|
rs78601074
|
0.00384
|
NM_001127649.3(PEX26):c.815-13C>T
|
rs139370593
|
0.00381
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_078470.6(COX15):c.*3247T>C
|
rs74775778
|
0.00380
|
NM_000284.4(PDHA1):c.831+15C>T
|
rs190157093
|
0.00379
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
NM_198252.3(GSN):c.1680C>T (p.Ser560=)
|
rs73660439
|
0.00379
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)
|
rs61750051
|
0.00377
|
NM_002617.4(PEX10):c.*595G>A
|
rs72924937
|
0.00377
|
NM_012073.5(CCT5):c.*1400A>G
|
rs140380065
|
0.00377
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_198252.3(GSN):c.664-4A>G
|
rs143590302
|
0.00376
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_000318.3(PEX2):c.*2443A>G
|
rs76770837
|
0.00372
|
NM_024577.4(SH3TC2):c.*3061A>G
|
rs138823547
|
0.00372
|
NM_001370298.3(FGD4):c.*2103A>G
|
rs55963204
|
0.00370
|
NM_005006.7(NDUFS1):c.*426T>G
|
rs114402169
|
0.00369
|
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)
|
rs112026097
|
0.00369
|
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)
|
rs9885480
|
0.00369
|
NM_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_018972.4(GDAP1):c.*1006C>T
|
rs145523828
|
0.00367
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440
|
0.00366
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_002047.2(GARS1):c.-280G>A
|
rs73294431
|
0.00364
|
NM_000287.4(PEX6):c.1071A>G (p.Leu357=)
|
rs116318004
|
0.00363
|
NM_000318.3(PEX2):c.*789C>T
|
rs144050052
|
0.00361
|
NM_001005361.3(DNM2):c.236-8C>G
|
rs143084059
|
0.00361
|
NM_022041.4(GAN):c.*372G>A
|
rs79192026
|
0.00361
|
NM_024577.4(SH3TC2):c.*6051G>A
|
rs146293131
|
0.00361
|
NM_001005361.3(DNM2):c.519T>C (p.Ala173=)
|
rs77702567
|
0.00359
|
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu)
|
rs9696578
|
0.00359
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_001370298.3(FGD4):c.*2813C>T
|
rs148195158
|
0.00358
|
NM_000784.3(CYP27A1):c.-205C>A
|
rs187723732
|
0.00357
|
NM_001113491.2(SEPTIN9):c.*1900A>G
|
rs180847518
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_002529.4(NTRK1):c.428+12C>A
|
rs41267425
|
0.00357
|
NM_014874.4(MFN2):c.975C>T (p.Gly325=)
|
rs141475476
|
0.00357
|
NM_022041.4(GAN):c.1182C>T (p.Tyr394=)
|
rs150102659
|
0.00357
|
NM_024577.4(SH3TC2):c.*21786G>A
|
rs6890482
|
0.00357
|
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)
|
rs116185403
|
0.00357
|
NM_006158.5(NEFL):c.*101A>G
|
rs34505194
|
0.00356
|
NM_012073.5(CCT5):c.*670T>A
|
rs114402073
|
0.00354
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
NM_012073.5(CCT5):c.1059G>A (p.Leu353=)
|
rs114634318
|
0.00353
|
NM_000217.3(KCNA1):c.*2245C>G
|
rs76258625
|
0.00350
|
NM_002617.4(PEX10):c.621C>G (p.Pro207=)
|
rs140107510
|
0.00350
|
NM_014317.5(PDSS1):c.*3A>G
|
rs115180525
|
0.00350
|
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)
|
rs34767818
|
0.00349
|
NM_133259.4(LRPPRC):c.*1335T>C
|
rs76970610
|
0.00348
|
NM_003680.4(YARS1):c.*284A>G
|
rs150690731
|
0.00347
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_002618.4(PEX13):c.-6G>C
|
rs147461642
|
0.00345
|
NM_000318.3(PEX2):c.*1174A>G
|
rs562263817
|
0.00343
|
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met)
|
rs140786088
|
0.00342
|
NM_001113491.2(SEPTIN9):c.*709C>T
|
rs146084702
|
0.00342
|
NM_004376.5(COX15):c.*3564C>T
|
rs12241912
|
0.00342
|
NM_033305.3(VPS13A):c.2667+12G>A
|
rs199995355
|
0.00342
|
NM_001303.4(COX10):c.*1324C>T
|
rs75636595
|
0.00341
|
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys)
|
rs202055175
|
0.00341
|
NM_004376.5(COX15):c.*3618A>G
|
rs76656125
|
0.00341
|
NM_004637.6(RAB7A):c.495G>A (p.Ala165=)
|
rs146566121
|
0.00341
|
NM_014874.4(MFN2):c.*1830C>T
|
rs74609163
|
0.00341
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_004376.5(COX15):c.*2842T>C
|
rs11190252
|
0.00339
|
NM_033305.3(VPS13A):c.101-7T>C
|
rs190684534
|
0.00338
|
NM_012073.5(CCT5):c.*487C>T
|
rs144767471
|
0.00337
|
NM_024577.4(SH3TC2):c.*6301C>T
|
rs188143654
|
0.00337
|
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884
|
0.00337
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_024577.4(SH3TC2):c.*18606T>G
|
rs182775401
|
0.00336
|
NM_001365536.1(SCN9A):c.*3426A>T
|
rs186838828
|
0.00334
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
NM_024577.4(SH3TC2):c.*5689A>C
|
rs537285537
|
0.00334
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_018319.3(TDP1):c.-292G>T
|
rs577403021
|
0.00332
|
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)
|
rs146061247
|
0.00332
|
NM_001042465.2(PSAP):c.-118G>A
|
rs28365838
|
0.00331
|
NM_024577.4(SH3TC2):c.*12550A>G
|
rs137953180
|
0.00330
|
NM_001351132.2(PEX5):c.*114C>T
|
rs187571620
|
0.00329
|
NM_024577.4(SH3TC2):c.*5368C>T
|
rs189202481
|
0.00329
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_001005361.3(DNM2):c.*671T>C
|
rs190696940
|
0.00325
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
|
rs12061667
|
0.00324
|
NM_006329.4(FBLN5):c.620-8T>C
|
rs147699855
|
0.00324
|
NM_016156.6(MTMR2):c.*837G>A
|
rs532069328
|
0.00323
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
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_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_181882.3(PRX):c.-236G>A
|
rs552436076
|
0.00317
|
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr)
|
rs146091043
|
0.00315
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
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_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_000217.3(KCNA1):c.-428C>T
|
rs7307690
|
0.00307
|
NM_001127649.3(PEX26):c.*954T>C
|
rs188986907
|
0.00307
|
NM_001365536.1(SCN9A):c.*2226T>G
|
rs141310425
|
0.00306
|
NM_001540.4(HSPB1):c.-56C>T
|
rs35759978
|
0.00306
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_018319.4(TDP1):c.*496G>A
|
rs34796911
|
0.00305
|
NM_021625.5(TRPV4):c.*378G>C
|
rs538255561
|
0.00305
|
NM_000370.3(TTPA):c.664-4T>G
|
rs2045224
|
0.00304
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_000318.3(PEX2):c.*1448C>T
|
rs184740361
|
0.00303
|
NM_001370298.3(FGD4):c.*4497G>A
|
rs367545740
|
0.00303
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_198252.3(GSN):c.243C>T (p.Thr81=)
|
rs116956127
|
0.00302
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001365536.1(SCN9A):c.-283G>C
|
rs191091185
|
0.00301
|
NM_000318.3(PEX2):c.*1012C>T
|
rs181539288
|
0.00300
|
NM_001540.5(HSPB1):c.*22C>T
|
rs557532119
|
0.00300
|
NM_002618.4(PEX13):c.*956G>T
|
rs141215166
|
0.00300
|
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=)
|
rs76066681
|
0.00299
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_003477.3(PDHX):c.*27A>C
|
rs74524673
|
0.00299
|
NM_024577.4(SH3TC2):c.*13598A>G
|
rs141011337
|
0.00299
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met)
|
rs143878016
|
0.00296
|
NM_024577.4(SH3TC2):c.*4298C>T
|
rs145849837
|
0.00296
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)
|
rs148278887
|
0.00295
|
NM_024577.4(SH3TC2):c.*13352G>A
|
rs192178726
|
0.00295
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_001034850.3(RETREG1):c.*1026T>C
|
rs191157317
|
0.00294
|
NM_003680.4(YARS1):c.*439T>C
|
rs184249741
|
0.00294
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_001723.7(DST):c.4400G>A (p.Arg1467His)
|
rs147704763
|
0.00292
|
NM_004544.4(NDUFA10):c.*925C>G
|
rs149563558
|
0.00292
|
NM_005006.7(NDUFS1):c.421-7A>G
|
rs192949406
|
0.00292
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_181882.3(PRX):c.554G>A (p.Arg185His)
|
rs76756143
|
0.00292
|
NM_181882.3(PRX):c.3702C>T (p.Gly1234=)
|
rs139950446
|
0.00291
|
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)
|
rs61740909
|
0.00290
|
NM_002618.4(PEX13):c.*383A>T
|
rs149099359
|
0.00290
|
NM_006158.5(NEFL):c.*244A>G
|
rs78869168
|
0.00290
|
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=)
|
rs141289653
|
0.00290
|
NM_000487.6(ARSA):c.*2259G>A
|
rs187444411
|
0.00289
|
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=)
|
rs147438950
|
0.00289
|
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)
|
rs77113494
|
0.00289
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_181882.3(PRX):c.3846G>A (p.Ser1282=)
|
rs143289108
|
0.00288
|
NM_001127649.3(PEX26):c.*828C>T
|
rs551641353
|
0.00287
|
NM_002618.4(PEX13):c.*944C>T
|
rs148184159
|
0.00287
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_001723.7(DST):c.4674C>T (p.Leu1558=)
|
rs191617697
|
0.00285
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_005572.3(LMNA):c.-223C>T
|
rs188625872
|
0.00284
|
NM_022041.4(GAN):c.*1175C>A
|
rs142989603
|
0.00284
|
NM_000487.6(ARSA):c.*191C>G
|
rs537362532
|
0.00283
|
NM_001365536.1(SCN9A):c.*124A>G
|
rs201137748
|
0.00283
|
NM_002618.4(PEX13):c.*3012A>G
|
rs144691386
|
0.00283
|
NM_004544.4(NDUFA10):c.*1943A>G
|
rs148829605
|
0.00283
|
NM_014317.5(PDSS1):c.*264A>T
|
rs144623506
|
0.00283
|
NM_002618.4(PEX13):c.*1724A>T
|
rs137932203
|
0.00282
|
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)
|
rs76508383
|
0.00282
|
NM_000217.3(KCNA1):c.237G>A (p.Glu79=)
|
rs149110871
|
0.00280
|
NM_001723.7(DST):c.5909T>C (p.Phe1970Ser)
|
rs141573097
|
0.00280
|
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419
|
0.00278
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
NM_000520.6(HEXA):c.*76G>A
|
rs558918292
|
0.00277
|
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser)
|
rs77848653
|
0.00276
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_001303.4(COX10):c.*904C>G
|
rs75839697
|
0.00276
|
NM_001386140.1(MTTP):c.-6G>A
|
rs41275707
|
0.00276
|
NM_003172.4(SURF1):c.54+10G>A
|
rs587598397
|
0.00276
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_000182.5(HADHA):c.-25C>G
|
rs184300489
|
0.00274
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
NM_001005373.4(LRSAM1):c.*57G>A
|
rs549468112
|
0.00273
|
NM_001130823.2(DNMT1):c.*323C>G
|
rs146694575
|
0.00273
|
NM_001303.4(COX10):c.*1148G>A
|
rs151138383
|
0.00272
|
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)
|
rs141292904
|
0.00272
|
NM_020312.4(COQ9):c.826C>T (p.Arg276Trp)
|
rs143587648
|
0.00272
|
NM_001370298.3(FGD4):c.*795G>A
|
rs112398567
|
0.00271
|
NM_000153.4(GALC):c.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
NM_001370298.3(FGD4):c.*1485T>C
|
rs55970127
|
0.00268
|
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_001386140.1(MTTP):c.1557+7T>A
|
rs142706742
|
0.00266
|
NM_002778.4(PSAP):c.189C>T (p.Cys63=)
|
rs111369573
|
0.00266
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468
|
0.00264
|
NM_004544.4(NDUFA10):c.*1382C>T
|
rs111337344
|
0.00263
|
NM_078470.6(COX15):c.582+14A>G
|
rs79410539
|
0.00263
|
NM_006329.4(FBLN5):c.*647C>T
|
rs10197
|
0.00262
|
NM_022041.4(GAN):c.*747G>T
|
rs148581491
|
0.00262
|
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)
|
rs201251634
|
0.00261
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00260
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_000217.3(KCNA1):c.-1043C>T
|
rs11831571
|
0.00257
|
NM_000318.3(PEX2):c.*2894T>C
|
rs569387185
|
0.00257
|
NM_001136472.2(LITAF):c.333C>T (p.Ala111=)
|
rs34448402
|
0.00256
|
NM_004168.4(SDHA):c.*133G>C
|
rs193112615
|
0.00255
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=)
|
rs149271718
|
0.00254
|
NM_000284.4(PDHA1):c.*1208A>C
|
rs369499936
|
0.00252
|
NM_004544.4(NDUFA10):c.*546G>A
|
rs192485848
|
0.00252
|
NM_006158.5(NEFL):c.*485A>G
|
rs145103399
|
0.00252
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)
|
rs142647321
|
0.00251
|
NM_002529.4(NTRK1):c.612G>A (p.Ser204=)
|
rs114320051
|
0.00251
|
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=)
|
rs115689748
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_020247.5(COQ8A):c.384C>T (p.Ala128=)
|
rs139970507
|
0.00250
|
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=)
|
rs61750052
|
0.00249
|
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)
|
rs147755372
|
0.00249
|
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=)
|
rs139634347
|
0.00249
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
NM_001365536.1(SCN9A):c.*2312A>T
|
rs185580193
|
0.00248
|
NM_001113491.2(SEPTIN9):c.*789G>A
|
rs12969
|
0.00247
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
NM_001723.7(DST):c.5153A>C (p.Lys1718Thr)
|
rs45487998
|
0.00245
|
NM_005908.4(MANBA):c.2136G>A (p.Ser712=)
|
rs149687835
|
0.00245
|
NM_006415.4(SPTLC1):c.*1154T>C
|
rs142740904
|
0.00245
|
NM_006415.4(SPTLC1):c.985-5C>T
|
rs114380004
|
0.00245
|
NM_015046.7(SETX):c.*168C>T
|
rs115351494
|
0.00245
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=)
|
rs16999358
|
0.00243
|
NM_001370298.3(FGD4):c.*4956T>A
|
rs149215917
|
0.00243
|
NM_002047.2(GARS1):c.-85C>A
|
rs777045330
|
0.00243
|
NM_003477.3(PDHX):c.474G>A (p.Glu158=)
|
rs148723565
|
0.00243
|
NM_003172.4(SURF1):c.*47G>A
|
rs138050767
|
0.00242
|
NM_016156.6(MTMR2):c.*1826C>A
|
rs145394232
|
0.00242
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
NM_016156.6(MTMR2):c.*2187A>G
|
rs141738388
|
0.00241
|
NM_000384.3(APOB):c.3843C>T (p.Ser1281=)
|
rs72653079
|
0.00240
|
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu)
|
rs75616428
|
0.00240
|
NM_006329.4(FBLN5):c.-411A>G
|
rs143296045
|
0.00240
|
NM_018319.4(TDP1):c.*599G>C
|
rs184066284
|
0.00238
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)
|
rs148331180
|
0.00237
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)
|
rs143484278
|
0.00233
|
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=)
|
rs202186741
|
0.00232
|
NM_001370298.3(FGD4):c.*2462C>A
|
rs575272682
|
0.00231
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)
|
rs151083690
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_004863.4(SPTLC2):c.*2338G>A
|
rs148034053
|
0.00227
|
NM_000217.3(KCNA1):c.*189G>A
|
rs187069793
|
0.00226
|
NM_024577.4(SH3TC2):c.*16056C>T
|
rs147906062
|
0.00226
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_001374736.1(DST):c.2256A>T (p.Ser752=)
|
rs113432929
|
0.00225
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_001953.5(TYMP):c.735G>A (p.Gln245=)
|
rs139223629
|
0.00222
|
NM_004544.4(NDUFA10):c.*372C>T
|
rs143693330
|
0.00222
|
NM_004565.3(PEX14):c.170-13C>T
|
rs182967518
|
0.00222
|
NM_006158.5(NEFL):c.*82T>A
|
rs148654058
|
0.00222
|
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)
|
rs150761638
|
0.00221
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_001303.4(COX10):c.929-7C>T
|
rs62052075
|
0.00220
|
NM_003630.3(PEX3):c.-96G>T
|
rs375554173
|
0.00220
|
NM_004863.4(SPTLC2):c.*1709G>A
|
rs146295173
|
0.00220
|
NM_004863.4(SPTLC2):c.*2645C>T
|
rs78577388
|
0.00220
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_003680.3(YARS1):c.-188G>T
|
rs184477254
|
0.00218
|
NM_003680.3(YARS1):c.-245T>C
|
rs189362780
|
0.00218
|
NM_003680.4(YARS1):c.52C>T (p.Leu18=)
|
rs147538442
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=)
|
rs61744333
|
0.00217
|
NM_020312.4(COQ9):c.-25C>G
|
rs547268811
|
0.00217
|
NM_020312.4(COQ9):c.625C>G (p.Leu209Val)
|
rs78846023
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_000925.4(PDHB):c.132T>C (p.Asp44=)
|
rs11542399
|
0.00216
|
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)
|
rs112327353
|
0.00216
|
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)
|
rs138941073
|
0.00215
|
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=)
|
rs139061654
|
0.00215
|
NM_004863.4(SPTLC2):c.*2749A>C
|
rs138960830
|
0.00215
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_004544.4(NDUFA10):c.*1161C>T
|
rs184925264
|
0.00213
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
NM_000182.5(HADHA):c.-1G>T
|
rs72809666
|
0.00211
|
NM_001605.3(AARS1):c.*213C>T
|
rs150625194
|
0.00211
|
NM_001386140.1(MTTP):c.*382T>C
|
rs556994625
|
0.00210
|
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_000108.5(DLD):c.*1640A>G
|
rs148148357
|
0.00209
|
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)
|
rs149102738
|
0.00209
|
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
0.00209
|
NM_000284.4(PDHA1):c.*857A>G
|
rs182836908
|
0.00208
|
NM_001127649.3(PEX26):c.*279G>A
|
rs147096782
|
0.00208
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
NM_004544.4(NDUFA10):c.*632G>A
|
rs189306598
|
0.00206
|
NM_004544.4(NDUFA10):c.-38T>G
|
rs374970309
|
0.00206
|
NM_024577.4(SH3TC2):c.*15125C>G
|
rs181229340
|
0.00206
|
NM_024577.4(SH3TC2):c.*578C>T
|
rs567100275
|
0.00206
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00205
|
NM_005908.4(MANBA):c.2191G>A (p.Val731Met)
|
rs150554352
|
0.00205
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424
|
0.00204
|
NM_000284.4(PDHA1):c.*864G>A
|
rs192450087
|
0.00203
|
NM_001136472.2(LITAF):c.*686C>T
|
rs190484543
|
0.00202
|
NM_001365536.1(SCN9A):c.*2212T>C
|
rs200750861
|
0.00201
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
NM_016156.6(MTMR2):c.*825G>A
|
rs192257681
|
0.00201
|
NM_024577.4(SH3TC2):c.*13465C>A
|
rs186009343
|
0.00201
|
NM_024577.4(SH3TC2):c.*4638A>T
|
rs117883175
|
0.00201
|
NM_030962.4(SBF2):c.*112G>A
|
rs144513995
|
0.00201
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_006329.4(FBLN5):c.-152C>T
|
rs139387007
|
0.00199
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)
|
rs17838192
|
0.00198
|
NM_000487.6(ARSA):c.-224C>G
|
rs546035074
|
0.00197
|
NM_004813.4(PEX16):c.*10C>T
|
rs201127195
|
0.00197
|
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)
|
rs140236960
|
0.00196
|
NM_001374736.1(DST):c.4906T>C (p.Leu1636=)
|
rs147406105
|
0.00195
|
NM_001723.7(DST):c.25C>T (p.Arg9Cys)
|
rs75671065
|
0.00193
|
NM_002618.3(PEX13):c.-68C>T
|
rs571713221
|
0.00193
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
NM_022041.4(GAN):c.*211C>T
|
rs566082565
|
0.00192
|
NM_001351132.2(PEX5):c.-16-274G>A
|
rs542096066
|
0.00191
|
NM_004376.5(COX15):c.*3086G>T
|
rs1000984
|
0.00191
|
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892
|
0.00191
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
NM_001370298.3(FGD4):c.167-61923G>A
|
rs184708096
|
0.00190
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
NM_000288.4(PEX7):c.*38G>A
|
rs41288965
|
0.00188
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
0.00188
|
NM_000284.4(PDHA1):c.-98C>T
|
rs192773464
|
0.00187
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)
|
rs200815412
|
0.00187
|
NM_003630.2(PEX3):c.-247T>C
|
rs138955442
|
0.00187
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_001136472.2(LITAF):c.*68G>A
|
rs189101115
|
0.00186
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)
|
rs138328594
|
0.00185
|
NM_004544.4(NDUFA10):c.*3141C>T
|
rs144864637
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_004376.6(COX15):c.-590G>A
|
rs191339901
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_002618.4(PEX13):c.*3106T>C
|
rs148515938
|
0.00183
|
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=)
|
rs150772386
|
0.00183
|
NM_033305.3(VPS13A):c.9078-7C>T
|
rs186819389
|
0.00183
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_022124.6(CDH23):c.*68G>C
|
rs527311705
|
0.00182
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)
|
rs147319762
|
0.00180
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_000217.3(KCNA1):c.*1469G>A
|
rs536746031
|
0.00179
|
NM_001113491.2(SEPTIN9):c.*454G>A
|
rs573267105
|
0.00179
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met)
|
rs143763184
|
0.00179
|
NM_004565.3(PEX14):c.825G>A (p.Ser275=)
|
rs143412169
|
0.00179
|
NM_000217.3(KCNA1):c.*2727C>T
|
rs113371270
|
0.00178
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr)
|
rs138044459
|
0.00178
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_000217.3(KCNA1):c.*2121T>C
|
rs188295490
|
0.00177
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_001365536.1(SCN9A):c.*2228G>T
|
rs200790957
|
0.00177
|
NM_002617.4(PEX10):c.*643C>T
|
rs150136015
|
0.00177
|
NM_001370298.3(FGD4):c.*167G>A
|
rs138847108
|
0.00176
|
NM_001386140.1(MTTP):c.2513+13G>A
|
rs148073215
|
0.00176
|
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
|
rs116424900
|
0.00176
|
NM_001370298.3(FGD4):c.*4028A>G
|
rs75608969
|
0.00175
|
NM_001370298.3(FGD4):c.*4585T>A
|
rs140048835
|
0.00175
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)
|
rs149632783
|
0.00173
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_001365536.1(SCN9A):c.*2344C>T
|
rs200962814
|
0.00173
|
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)
|
rs202084411
|
0.00173
|
NM_001605.3(AARS1):c.*324G>A
|
rs141837805
|
0.00173
|
NM_005908.4(MANBA):c.1254C>G (p.Ala418=)
|
rs139157403
|
0.00173
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00173
|
NM_024577.4(SH3TC2):c.*7917A>G
|
rs546816780
|
0.00173
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_000370.3(TTPA):c.24C>G (p.Pro8=)
|
rs140010311
|
0.00172
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)
|
rs148544177
|
0.00172
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_001127649.3(PEX26):c.*1156T>C
|
rs565644082
|
0.00171
|
NM_001127649.3(PEX26):c.*1194G>A
|
rs118188952
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met)
|
rs112530241
|
0.00171
|
NM_021625.5(TRPV4):c.*230G>A
|
rs181542514
|
0.00171
|
NM_000217.3(KCNA1):c.*4591T>G
|
rs150901962
|
0.00170
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
NM_004544.4(NDUFA10):c.*2242T>C
|
rs111969519
|
0.00170
|
NM_004565.3(PEX14):c.*576A>G
|
rs530124005
|
0.00170
|
NM_016156.6(MTMR2):c.*207A>G
|
rs185702937
|
0.00170
|
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=)
|
rs367775215
|
0.00169
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_018319.4(TDP1):c.*1618T>C
|
rs35308003
|
0.00169
|
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)
|
rs146576740
|
0.00169
|
NM_133259.4(LRPPRC):c.*1152C>G
|
rs562361644
|
0.00169
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_024577.4(SH3TC2):c.*3058A>G
|
rs563916447
|
0.00168
|
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)
|
rs146241431
|
0.00167
|
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)
|
rs111967328
|
0.00167
|
NM_002180.3(IGHMBP2):c.*175T>C
|
rs189725711
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_004544.4(NDUFA10):c.548-9A>G
|
rs147876332
|
0.00166
|
NM_022124.6(CDH23):c.*478G>C
|
rs564392413
|
0.00166
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_004376.5(COX15):c.*4110T>G
|
rs56206689
|
0.00164
|
NM_015046.7(SETX):c.*2506T>C
|
rs73545065
|
0.00164
|
NM_015046.7(SETX):c.*905A>G
|
rs58327306
|
0.00164
|
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
NM_001365536.1(SCN9A):c.-277C>T
|
rs201445594
|
0.00163
|
NM_004376.5(COX15):c.*4435A>G
|
rs74152722
|
0.00163
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_001605.3(AARS1):c.*141A>G
|
rs576707006
|
0.00161
|
NM_024577.4(SH3TC2):c.*15639A>G
|
rs190478262
|
0.00160
|
NM_000466.3(PEX1):c.*292G>A
|
rs138531138
|
0.00159
|
NM_002180.3(IGHMBP2):c.*466G>A
|
rs542162905
|
0.00159
|
NM_003680.4(YARS1):c.*138G>A
|
rs41265857
|
0.00159
|
NM_024577.4(SH3TC2):c.*22357T>C
|
rs191754280
|
0.00158
|
NM_000143.4(FH):c.1236+14C>T
|
rs149241949
|
0.00157
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)
|
rs2228208
|
0.00157
|
NM_001113491.2(SEPTIN9):c.1477-9G>A
|
rs145143440
|
0.00156
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_001113491.2(SEPTIN9):c.*1639C>G
|
rs539303139
|
0.00155
|
NM_001351132.2(PEX5):c.*179A>G
|
rs192786621
|
0.00155
|
NM_001374736.1(DST):c.4930-651G>A
|
rs116219382
|
0.00155
|
NM_024577.4(SH3TC2):c.*20773G>T
|
rs113020040
|
0.00155
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
NM_001365951.3(KIF1B):c.-260C>T
|
rs149705989
|
0.00154
|
NM_022041.4(GAN):c.*2332T>A
|
rs191866467
|
0.00154
|
NM_024577.4(SH3TC2):c.*7006T>C
|
rs187720692
|
0.00154
|
NM_001130823.3(DNMT1):c.2117+13G>A
|
rs112660071
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)
|
rs150696959
|
0.00153
|
NM_024577.4(SH3TC2):c.*10105C>T
|
rs753563756
|
0.00153
|
NM_024577.4(SH3TC2):c.*1982C>A
|
rs535127091
|
0.00153
|
NM_024577.4(SH3TC2):c.*391G>C
|
rs117139060
|
0.00153
|
NM_024577.4(SH3TC2):c.1177+10G>A
|
rs139257109
|
0.00153
|
NM_133259.4(LRPPRC):c.3148+12C>T
|
rs199684766
|
0.00153
|
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)
|
rs151271595
|
0.00152
|
NM_002047.4(GARS1):c.*145C>A
|
rs904772533
|
0.00152
|
NM_133259.4(LRPPRC):c.*1564G>A
|
rs142436911
|
0.00152
|
NM_004863.4(SPTLC2):c.*4131G>A
|
rs45577834
|
0.00151
|
NM_003477.3(PDHX):c.*331G>C
|
rs555691861
|
0.00150
|
NM_004376.5(COX15):c.*3211G>A
|
rs548503022
|
0.00150
|
NM_014845.6(FIG4):c.-132A>G
|
rs548471516
|
0.00150
|
NM_024577.4(SH3TC2):c.*20882A>G
|
rs112269889
|
0.00150
|
NM_033305.3(VPS13A):c.-148C>T
|
rs555695029
|
0.00150
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001370298.3(FGD4):c.*1351A>T
|
rs558890776
|
0.00149
|
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956
|
0.00149
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_000318.3(PEX2):c.*659C>G
|
rs551943990
|
0.00148
|
NM_001370298.3(FGD4):c.*5389A>G
|
rs566628332
|
0.00148
|
NM_078470.6(COX15):c.*1776T>A
|
rs145963002
|
0.00148
|
NM_004082.5(DCTN1):c.*167C>T
|
rs142053202
|
0.00147
|
NM_020312.4(COQ9):c.921+11C>A
|
rs75908124
|
0.00146
|
NM_024577.4(SH3TC2):c.*21658A>G
|
rs145964634
|
0.00146
|
NM_000288.4(PEX7):c.*272A>G
|
rs186705952
|
0.00145
|
NM_004544.4(NDUFA10):c.*1198G>A
|
rs143353868
|
0.00145
|
NM_181882.3(PRX):c.-114T>G
|
rs367716653
|
0.00145
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_015046.7(SETX):c.*1800C>T
|
rs147200829
|
0.00144
|
NM_022041.4(GAN):c.*816T>C
|
rs188599282
|
0.00144
|
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386
|
0.00144
|
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)
|
rs11540012
|
0.00143
|
NM_020247.5(COQ8A):c.*230G>A
|
rs117808661
|
0.00143
|
NM_024577.4(SH3TC2):c.*1720T>A
|
rs148473467
|
0.00143
|
NM_033305.3(VPS13A):c.2170+13T>C
|
rs183087425
|
0.00143
|
NM_181882.3(PRX):c.*144C>T
|
rs189487790
|
0.00143
|
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)
|
rs77144869
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_005006.7(NDUFS1):c.*561T>C
|
rs146538309
|
0.00141
|
NM_018972.4(GDAP1):c.*1141C>T
|
rs566147187
|
0.00141
|
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=)
|
rs56043893
|
0.00141
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_006329.4(FBLN5):c.*648G>A
|
rs182435130
|
0.00140
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490
|
0.00140
|
NM_020312.4(COQ9):c.74-13G>A
|
rs181356497
|
0.00140
|
NM_181882.3(PRX):c.719G>A (p.Arg240Gln)
|
rs77917609
|
0.00140
|
NM_002529.4(NTRK1):c.287+12G>A
|
rs202238126
|
0.00138
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_000183.2(HADHB):c.-185G>C
|
rs367712851
|
0.00137
|
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_001723.7(DST):c.4049C>T (p.Thr1350Met)
|
rs45472691
|
0.00137
|
NM_024577.4(SH3TC2):c.*2361A>T
|
rs146327509
|
0.00137
|
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr)
|
rs117505788
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)
|
rs111722949
|
0.00135
|
NM_001005361.3(DNM2):c.*185A>C
|
rs570774479
|
0.00135
|
NM_001113491.2(SEPTIN9):c.1573+10G>A
|
rs143783047
|
0.00135
|
NM_001605.2(AARS1):c.-108T>C
|
rs779683414
|
0.00135
|
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)
|
rs143789597
|
0.00135
|
NM_002180.3(IGHMBP2):c.-28C>A
|
rs117368938
|
0.00135
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
0.00135
|
NM_024577.4(SH3TC2):c.*4935A>T
|
rs149921013
|
0.00135
|
NM_001127649.3(PEX26):c.*1720G>A
|
rs749348676
|
0.00134
|
NM_001351132.2(PEX5):c.*452G>C
|
rs185474091
|
0.00134
|
NM_006329.4(FBLN5):c.714T>A (p.Leu238=)
|
rs141152607
|
0.00134
|
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn)
|
rs74622901
|
0.00134
|
NM_000217.3(KCNA1):c.*2596A>T
|
rs188377239
|
0.00133
|
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127
|
0.00133
|
NM_001374736.1(DST):c.1779-395G>A
|
rs143726337
|
0.00133
|
NM_002857.4(PEX19):c.*1471A>T
|
rs2301299
|
0.00133
|
NM_002857.4(PEX19):c.346+14A>G
|
rs77156017
|
0.00133
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_024577.4(SH3TC2):c.*13645C>T
|
rs180704051
|
0.00133
|
NM_024577.4(SH3TC2):c.*797A>G
|
rs140821223
|
0.00133
|
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=)
|
rs117804174
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_001130823.3(DNMT1):c.*165T>G
|
rs192952800
|
0.00132
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510
|
0.00132
|
NM_002857.4(PEX19):c.*864C>T
|
rs144938105
|
0.00132
|
NM_003630.3(PEX3):c.*321A>T
|
rs1030569248
|
0.00132
|
NM_004544.4(NDUFA10):c.*1879G>A
|
rs143421241
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)
|
rs118136428
|
0.00131
|
NM_015046.7(SETX):c.-70T>C
|
rs72765839
|
0.00131
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
NM_000925.4(PDHB):c.198A>G (p.Ala66=)
|
rs138621975
|
0.00130
|
NM_003630.3(PEX3):c.*391G>A
|
rs140007169
|
0.00129
|
NM_133259.4(LRPPRC):c.*1981A>T
|
rs180886841
|
0.00129
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_000784.3(CYP27A1):c.-335C>T
|
rs528284503
|
0.00128
|
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809
|
0.00128
|
NM_004376.6(COX15):c.-406C>G
|
rs11595470
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_024577.4(SH3TC2):c.*2081T>G
|
rs543206033
|
0.00127
|
NM_024577.4(SH3TC2):c.*39A>C
|
rs76579569
|
0.00127
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
NM_000284.4(PDHA1):c.*549A>G
|
rs187525386
|
0.00126
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
NM_001113491.2(SEPTIN9):c.*876C>T
|
rs3826284
|
0.00126
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_024577.4(SH3TC2):c.*4555A>G
|
rs117287440
|
0.00126
|
NM_024577.4(SH3TC2):c.*4691C>T
|
rs574710725
|
0.00126
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
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_024577.4(SH3TC2):c.*18476T>C
|
rs185251230
|
0.00125
|
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=)
|
rs17795193
|
0.00125
|
NM_007103.4(NDUFV1):c.*79C>T
|
rs76839099
|
0.00124
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_001130823.3(DNMT1):c.768+12T>A
|
rs189898346
|
0.00123
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_003680.4(YARS1):c.1374G>A (p.Pro458=)
|
rs151227410
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)
|
rs17851387
|
0.00121
|
NM_001370298.3(FGD4):c.*2638A>G
|
rs193167910
|
0.00121
|
NM_003560.4(PLA2G6):c.-20C>A
|
rs191263821
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189
|
0.00121
|
NM_022041.4(GAN):c.*1336G>A
|
rs150666164
|
0.00121
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_004544.4(NDUFA10):c.*2202C>T
|
rs77614498
|
0.00120
|
NM_024577.4(SH3TC2):c.*3202T>C
|
rs188625202
|
0.00120
|
NM_004544.4(NDUFA10):c.*2495C>T
|
rs78395168
|
0.00119
|
NM_018972.4(GDAP1):c.*331C>T
|
rs1052033443
|
0.00119
|
NM_000217.3(KCNA1):c.-638C>T
|
rs574980784
|
0.00118
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_003680.4(YARS1):c.*599A>C
|
rs542816112
|
0.00118
|
NM_024577.4(SH3TC2):c.*16928A>G
|
rs760134609
|
0.00118
|
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=)
|
rs147000685
|
0.00118
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
NM_004544.4(NDUFA10):c.*1915G>A
|
rs144590599
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_000487.6(ARSA):c.*332C>T
|
rs780413907
|
0.00115
|
NM_001365536.1(SCN9A):c.*1770A>C
|
rs200353065
|
0.00115
|
NM_001723.7(DST):c.6582A>C (p.Ala2194=)
|
rs149007397
|
0.00115
|
NM_000284.4(PDHA1):c.*575T>C
|
rs191995452
|
0.00114
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
NM_000217.3(KCNA1):c.*2488T>C
|
rs376503311
|
0.00113
|
NM_022041.4(GAN):c.*495G>A
|
rs558701236
|
0.00113
|
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=)
|
rs74983687
|
0.00113
|
NM_000284.4(PDHA1):c.*1297G>A
|
rs778678656
|
0.00112
|
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
|
rs41306784
|
0.00112
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_020312.4(COQ9):c.-27G>C
|
rs538493869
|
0.00111
|
NM_000284.4(PDHA1):c.*1345A>G
|
rs193253848
|
0.00110
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_007103.4(NDUFV1):c.72+15G>T
|
rs187400726
|
0.00109
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
NM_001365536.1(SCN9A):c.*785C>T
|
rs181229506
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_002529.4(NTRK1):c.212+10C>T
|
rs183517027
|
0.00108
|
NM_002618.4(PEX13):c.*357T>C
|
rs138236564
|
0.00108
|
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
0.00108
|
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000318.3(PEX2):c.*1716A>G
|
rs192555214
|
0.00107
|
NM_001130823.3(DNMT1):c.493+8C>T
|
rs138998574
|
0.00107
|
NM_004565.3(PEX14):c.36+8G>A
|
rs200154696
|
0.00107
|
NM_022041.4(GAN):c.*1002T>A
|
rs552489170
|
0.00107
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
NM_000318.3(PEX2):c.-183G>T
|
rs568404564
|
0.00106
|
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)
|
rs188104446
|
0.00106
|
NM_014874.4(MFN2):c.165C>T (p.Thr55=)
|
rs77458527
|
0.00106
|
NM_014874.4(MFN2):c.408A>T (p.Val136=)
|
rs78814413
|
0.00106
|
NM_024577.4(SH3TC2):c.*2987C>T
|
rs565331463
|
0.00106
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)
|
rs77261230
|
0.00105
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_001079866.2(BCS1L):c.-14G>A
|
rs367721351
|
0.00103
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
NM_021625.5(TRPV4):c.*486T>C
|
rs79157363
|
0.00103
|
NM_022041.4(GAN):c.1162C>T (p.Leu388=)
|
rs73589395
|
0.00103
|
NM_024577.4(SH3TC2):c.*2269G>T
|
rs575693285
|
0.00103
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_198252.3(GSN):c.1225G>A (p.Val409Met)
|
rs140042418
|
0.00103
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00102
|
NM_002618.4(PEX13):c.*1961T>C
|
rs771587917
|
0.00102
|
NM_003680.3(YARS1):c.-464C>T
|
rs534491159
|
0.00102
|
NM_003680.3(YARS1):c.-662G>A
|
rs112104823
|
0.00102
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln)
|
rs200031107
|
0.00101
|
NM_001127649.3(PEX26):c.*113G>A
|
rs199653646
|
0.00101
|
NM_003630.3(PEX3):c.578+8A>G
|
rs200807211
|
0.00101
|
NM_003680.3(YARS1):c.-283G>A
|
rs113748028
|
0.00101
|
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
|
rs11547480
|
0.00101
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)
|
rs149201273
|
0.00100
|
NM_000487.6(ARSA):c.*729C>T
|
rs191335867
|
0.00099
|
NM_001127649.3(PEX26):c.*133C>T
|
rs200243782
|
0.00099
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
NM_004544.4(NDUFA10):c.*3095A>G
|
rs576198967
|
0.00099
|
NM_014317.5(PDSS1):c.130-10G>T
|
rs551306397
|
0.00099
|
NM_018444.4(PDP1):c.*1649_*1650insG
|
rs886063184
|
0.00099
|
NM_024577.4(SH3TC2):c.*5277G>T
|
rs529868327
|
0.00099
|
NM_001130823.3(DNMT1):c.*287T>C
|
rs189422259
|
0.00098
|
NM_001303.4(COX10):c.981C>T (p.Asn327=)
|
rs146175179
|
0.00098
|
NM_002047.2(GARS1):c.-69T>A
|
rs527307703
|
0.00098
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_033305.3(VPS13A):c.101-14T>G
|
rs202024224
|
0.00098
|
NM_018972.4(GDAP1):c.*931A>G
|
rs532787830
|
0.00097
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00096
|
NM_001127649.3(PEX26):c.*439C>G
|
rs148217514
|
0.00096
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_001605.3(AARS1):c.1332G>A (p.Glu444=)
|
rs150442667
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_005908.4(MANBA):c.*437A>T
|
rs80064803
|
0.00096
|
NM_024577.4(SH3TC2):c.*9361C>T
|
rs573872364
|
0.00096
|
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=)
|
rs143021112
|
0.00096
|
NM_133259.4(LRPPRC):c.*1563C>T
|
rs186518252
|
0.00096
|
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=)
|
rs2274498
|
0.00095
|
NM_003560.4(PLA2G6):c.*301G>A
|
rs11570769
|
0.00095
|
NM_033305.3(VPS13A):c.*279A>T
|
rs191865643
|
0.00095
|
NM_006415.4(SPTLC1):c.*1009G>T
|
rs559735773
|
0.00094
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=)
|
rs150859374
|
0.00093
|
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=)
|
rs145346590
|
0.00093
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_000284.4(PDHA1):c.*349A>G
|
rs1013526559
|
0.00092
|
NM_001365536.1(SCN9A):c.*362C>T
|
rs185832567
|
0.00092
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
NM_006096.4(NDRG1):c.*1300G>C
|
rs557737109
|
0.00092
|
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
0.00091
|
NM_001365536.1(SCN9A):c.*2191G>A
|
rs201184093
|
0.00091
|
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=)
|
rs147954772
|
0.00091
|
NM_004544.4(NDUFA10):c.*2659A>C
|
rs559550890
|
0.00091
|
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)
|
rs111624565
|
0.00091
|
NM_024577.4(SH3TC2):c.*19002A>G
|
rs546701780
|
0.00091
|
NM_001303.4(COX10):c.93C>A (p.Asp31Glu)
|
rs141481210
|
0.00090
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
NM_003630.3(PEX3):c.165A>G (p.Gln55=)
|
rs41285015
|
0.00090
|
NM_006415.4(SPTLC1):c.*178T>A
|
rs184220566
|
0.00090
|
NM_133259.4(LRPPRC):c.*1872C>T
|
rs147686285
|
0.00090
|
NM_001351132.2(PEX5):c.*462G>C
|
rs75145323
|
0.00089
|
NM_001386140.1(MTTP):c.*694A>C
|
rs187658213
|
0.00089
|
NM_004863.3(SPTLC2):c.-181C>G
|
rs538010560
|
0.00089
|
NM_014874.4(MFN2):c.150C>A (p.Ile50=)
|
rs78841746
|
0.00089
|
NM_001122955.4(BSCL2):c.88-674G>T
|
rs549450153
|
0.00088
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_001605.3(AARS1):c.2608-6C>A
|
rs200965527
|
0.00088
|
NM_005908.4(MANBA):c.479G>A (p.Arg160His)
|
rs144917953
|
0.00088
|
NM_024577.4(SH3TC2):c.*9830C>T
|
rs557247993
|
0.00088
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)
|
rs151104852
|
0.00087
|
NM_014874.4(MFN2):c.891C>T (p.Ala297=)
|
rs11554508
|
0.00087
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
NM_000217.3(KCNA1):c.-235C>A
|
rs113587682
|
0.00086
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
NM_001113491.2(SEPTIN9):c.*417C>T
|
rs758432689
|
0.00086
|
NM_001131025.1(PEX5):c.*1251G>A
|
rs538222740
|
0.00086
|
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=)
|
rs142030960
|
0.00086
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00086
|
NM_024577.4(SH3TC2):c.*18699T>G
|
rs117371981
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_001005361.3(DNM2):c.*607G>A
|
rs117954916
|
0.00085
|
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=)
|
rs11228414
|
0.00085
|
NM_004637.6(RAB7A):c.*85A>G
|
rs549333234
|
0.00085
|
NM_020247.5(COQ8A):c.*425G>T
|
rs552968994
|
0.00085
|
NM_033305.3(VPS13A):c.*933A>G
|
rs561135773
|
0.00085
|
NM_001042472.2(ABHD12):c.-221G>A
|
rs879795178
|
0.00084
|
NM_002857.4(PEX19):c.*1069G>A
|
rs542626903
|
0.00084
|
NM_006096.4(NDRG1):c.*31T>G
|
rs573564976
|
0.00084
|
NM_024577.4(SH3TC2):c.*4131T>C
|
rs141113906
|
0.00084
|
NM_133259.4(LRPPRC):c.*577G>T
|
rs183378286
|
0.00084
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
NM_004637.6(RAB7A):c.*274G>A
|
rs565849348
|
0.00083
|
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)
|
rs140445386
|
0.00083
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_000925.4(PDHB):c.288T>C (p.Ala96=)
|
rs138128142
|
0.00082
|
NM_001113491.2(SEPTIN9):c.*1204A>G
|
rs568078300
|
0.00082
|
NM_003477.3(PDHX):c.579A>G (p.Glu193=)
|
rs61752926
|
0.00082
|
NM_024577.4(SH3TC2):c.*12111C>A
|
rs930165203
|
0.00082
|
NM_001303.4(COX10):c.302C>T (p.Pro101Leu)
|
rs145948285
|
0.00081
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
|
rs142658611
|
0.00081
|
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321
|
0.00081
|
NM_024577.4(SH3TC2):c.*10113T>C
|
rs908427102
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_001131025.1(PEX5):c.*1259G>C
|
rs148385560
|
0.00080
|
NM_078470.6(COX15):c.*1851G>T
|
rs754063121
|
0.00080
|
NM_002857.4(PEX19):c.*1802G>C
|
rs745362133
|
0.00079
|
NM_024577.4(SH3TC2):c.*711A>C
|
rs567593663
|
0.00079
|
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)
|
rs150849316
|
0.00078
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
0.00078
|
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451
|
0.00078
|
NM_001127649.3(PEX26):c.*1922C>T
|
rs181819830
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_006308.2(HSPB3):c.-129C>T
|
rs577774043
|
0.00078
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_018972.4(GDAP1):c.*751A>G
|
rs544136357
|
0.00078
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)
|
rs188145203
|
0.00077
|
NM_021625.5(TRPV4):c.*190C>T
|
rs141636597
|
0.00077
|
NM_024577.4(SH3TC2):c.*16378C>A
|
rs144423228
|
0.00077
|
NM_001370298.3(FGD4):c.167-62008C>A
|
rs187553815
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_002778.4(PSAP):c.714C>G (p.Ala238=)
|
rs141199649
|
0.00076
|
NM_005908.4(MANBA):c.2246T>A (p.Leu749His)
|
rs142248415
|
0.00076
|
NM_024577.4(SH3TC2):c.*1917C>T
|
rs561485632
|
0.00076
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
NM_000487.6(ARSA):c.*1213T>G
|
rs886057649
|
0.00074
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910
|
0.00074
|
NM_001127649.3(PEX26):c.*2195A>G
|
rs565621911
|
0.00074
|
NM_014874.4(MFN2):c.*1546G>A
|
rs3737960
|
0.00074
|
NM_016156.6(MTMR2):c.*212A>C
|
rs372852182
|
0.00074
|
NM_024577.4(SH3TC2):c.*4713G>A
|
rs191742061
|
0.00074
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
NM_000081.4(LYST):c.10235G>A (p.Arg3412His)
|
rs148409403
|
0.00073
|
NM_000158.4(GBE1):c.*468G>A
|
rs750772386
|
0.00073
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_018972.4(GDAP1):c.*1430T>A
|
rs538689570
|
0.00073
|
NM_024577.4(SH3TC2):c.*9504G>A
|
rs17722113
|
0.00073
|
NM_078470.6(COX15):c.*1850G>T
|
rs755134012
|
0.00073
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_004544.4(NDUFA10):c.*3347C>T
|
rs537694779
|
0.00072
|
NM_012073.5(CCT5):c.*776T>C
|
rs553660590
|
0.00072
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00072
|
NM_020312.4(COQ9):c.*622A>G
|
rs534696904
|
0.00072
|
NM_024577.4(SH3TC2):c.*11589C>T
|
rs189059447
|
0.00072
|
NM_024577.4(SH3TC2):c.*9503C>T
|
rs533786708
|
0.00072
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000182.5(HADHA):c.*355C>T
|
rs539549041
|
0.00071
|
NM_020312.4(COQ9):c.*100C>T
|
rs373048666
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_001113491.2(SEPTIN9):c.914-4C>T
|
rs199809734
|
0.00070
|
NM_003560.4(PLA2G6):c.*541C>T
|
rs45473603
|
0.00070
|
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser)
|
rs145958900
|
0.00070
|
NM_024577.4(SH3TC2):c.*17662T>C
|
rs556308084
|
0.00070
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)
|
rs76784113
|
0.00069
|
NM_024407.5(NDUFS7):c.*16C>T
|
rs573586959
|
0.00069
|
NM_078470.6(COX15):c.*2193A>T
|
rs557527426
|
0.00069
|
NM_000158.4(GBE1):c.*555G>A
|
rs143820392
|
0.00068
|
NM_000284.4(PDHA1):c.*432C>T
|
rs754719295
|
0.00068
|
NM_001113491.2(SEPTIN9):c.76+12407G>A
|
rs765972765
|
0.00068
|
NM_001365536.1(SCN9A):c.-126G>C
|
rs200099565
|
0.00068
|
NM_001374736.1(DST):c.2504G>A (p.Arg835His)
|
rs41267671
|
0.00068
|
NM_003477.3(PDHX):c.-23C>A
|
rs201033364
|
0.00068
|
NM_005908.4(MANBA):c.*8T>G
|
rs199881261
|
0.00068
|
NM_012073.5(CCT5):c.954C>T (p.Asn318=)
|
rs150870419
|
0.00068
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_000370.3(TTPA):c.*776C>T
|
rs886063063
|
0.00067
|
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)
|
rs45484792
|
0.00067
|
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712
|
0.00067
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_024577.4(SH3TC2):c.*11427G>A
|
rs535822101
|
0.00067
|
NM_078470.6(COX15):c.*1716G>A
|
rs186244558
|
0.00067
|
NM_000143.4(FH):c.105G>A (p.Ser35=)
|
rs181655698
|
0.00066
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
|
rs150999369
|
0.00066
|
NM_001723.7(DST):c.3436A>G (p.Met1146Val)
|
rs148413592
|
0.00066
|
NM_003172.4(SURF1):c.54+9C>G
|
rs587675928
|
0.00066
|
NM_003560.2(PLA2G6):c.*672G>A
|
rs572000246
|
0.00066
|
NM_003680.4(YARS1):c.*21C>A
|
rs149812692
|
0.00066
|
NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)
|
rs141323599
|
0.00066
|
NM_020631.6(PLEKHG5):c.*285C>T
|
rs572888702
|
0.00066
|
NM_024577.4(SH3TC2):c.*10111T>C
|
rs943889013
|
0.00066
|
NM_133259.4(LRPPRC):c.-11A>G
|
rs188424940
|
0.00066
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
0.00066
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=)
|
rs140336379
|
0.00065
|
NM_001351132.2(PEX5):c.-53T>C
|
rs770339670
|
0.00065
|
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652
|
0.00065
|
NM_001723.7(DST):c.5930C>G (p.Thr1977Arg)
|
rs148856756
|
0.00065
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_002496.3(NDUFS8):c.-76C>T
|
rs544094420
|
0.00065
|
NM_006096.4(NDRG1):c.-64G>A
|
rs886062717
|
0.00065
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_198252.3(GSN):c.*185G>A
|
rs757682798
|
0.00065
|
NM_001005373.4(LRSAM1):c.406+15G>T
|
rs201808404
|
0.00064
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862
|
0.00064
|
NM_006096.4(NDRG1):c.-123T>G
|
rs886062718
|
0.00064
|
NM_006308.3(HSPB3):c.-89T>C
|
rs186550955
|
0.00064
|
NM_007103.4(NDUFV1):c.-45T>G
|
rs373940385
|
0.00064
|
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)
|
rs142982022
|
0.00064
|
NM_000304.4(PMP22):c.*200T>G
|
rs142106420
|
0.00063
|
NM_000318.3(PEX2):c.*1765G>A
|
rs60300869
|
0.00063
|
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)
|
rs138232280
|
0.00063
|
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_002618.4(PEX13):c.*216T>C
|
rs146980377
|
0.00063
|
NM_004544.4(NDUFA10):c.*1303C>T
|
rs575940810
|
0.00063
|
NM_004544.4(NDUFA10):c.*2297T>G
|
rs773090030
|
0.00063
|
NM_004589.4(SCO1):c.*81A>G
|
rs140538532
|
0.00063
|
NM_198252.3(GSN):c.1663G>A (p.Val555Met)
|
rs151208452
|
0.00063
|
NM_000158.4(GBE1):c.24G>A (p.Ala8=)
|
rs28763906
|
0.00062
|
NM_000217.3(KCNA1):c.*3588T>C
|
rs535813845
|
0.00062
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)
|
rs150549628
|
0.00062
|
NM_018972.4(GDAP1):c.*2210C>T
|
rs571939530
|
0.00062
|
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln)
|
rs138506576
|
0.00061
|
NM_000284.4(PDHA1):c.*321C>T
|
rs886566327
|
0.00061
|
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)
|
rs150318528
|
0.00061
|
NM_000487.6(ARSA):c.-131G>A
|
rs551316995
|
0.00061
|
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)
|
rs201493373
|
0.00061
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00061
|
NM_002529.4(NTRK1):c.*56C>G
|
rs773036874
|
0.00061
|
NM_004863.4(SPTLC2):c.*2966G>A
|
rs369681276
|
0.00061
|
NM_024577.4(SH3TC2):c.*20935C>G
|
rs769773057
|
0.00061
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_000487.6(ARSA):c.*103C>T
|
rs146160737
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_014874.4(MFN2):c.-4-13G>T
|
rs373679523
|
0.00060
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)
|
rs187453572
|
0.00059
|
NM_001374736.1(DST):c.4930-430A>G
|
rs140470023
|
0.00059
|
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_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
NM_014874.4(MFN2):c.1495+9C>T
|
rs375494746
|
0.00059
|
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823
|
0.00059
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)
|
rs118003416
|
0.00059
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000284.4(PDHA1):c.604-10C>T
|
rs201754585
|
0.00058
|
NM_000466.3(PEX1):c.-43T>G
|
rs572810743
|
0.00058
|
NM_001079866.2(BCS1L):c.-50+458T>G
|
rs188224298
|
0.00058
|
NM_001127649.3(PEX26):c.*2449C>T
|
rs140919342
|
0.00058
|
NM_001136472.2(LITAF):c.377+13C>G
|
rs200357430
|
0.00058
|
NM_001370298.3(FGD4):c.*3994A>G
|
rs567853773
|
0.00058
|
NM_001374736.1(DST):c.2042G>A (p.Arg681His)
|
rs143101723
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_003630.3(PEX3):c.*129C>T
|
rs41285017
|
0.00058
|
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)
|
rs139771078
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00058
|
NM_020312.4(COQ9):c.*492C>T
|
rs550304608
|
0.00058
|
NM_021625.5(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793
|
0.00058
|
NM_022041.4(GAN):c.*1029C>T
|
rs189688967
|
0.00058
|
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)
|
rs139586219
|
0.00058
|
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr)
|
rs147554026
|
0.00058
|
NM_001195248.2(APTX):c.134-12A>C
|
rs113391831
|
0.00057
|
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg)
|
rs145867351
|
0.00057
|
NM_005006.7(NDUFS1):c.*438C>T
|
rs561980718
|
0.00057
|
NM_020631.6(PLEKHG5):c.-113C>A
|
rs190848227
|
0.00057
|
NM_024577.4(SH3TC2):c.*6993T>C
|
rs563203537
|
0.00057
|
NM_198252.3(GSN):c.1931C>T (p.Thr644Met)
|
rs144434647
|
0.00057
|
NM_000286.3(PEX12):c.-427G>A
|
rs531286605
|
0.00056
|
NM_001351132.2(PEX5):c.*110G>A
|
rs775495288
|
0.00056
|
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
|
rs149707354
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
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_003477.3(PDHX):c.161-6T>C
|
rs200438675
|
0.00056
|
NM_003680.3(YARS1):c.-269C>T
|
rs772899682
|
0.00056
|
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
NM_006096.3(NDRG1):c.-157C>T
|
rs545130040
|
0.00056
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_000487.6(ARSA):c.*1969C>A
|
rs556167510
|
0.00055
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
NM_004813.4(PEX16):c.*175C>A
|
rs375099703
|
0.00055
|
NM_004863.4(SPTLC2):c.1239T>C (p.Pro413=)
|
rs140041902
|
0.00055
|
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)
|
rs142499054
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_000153.4(GALC):c.*1451C>A
|
rs138919458
|
0.00054
|
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)
|
rs1800456
|
0.00054
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_000520.5(HEXA):c.-136G>A
|
rs561320483
|
0.00054
|
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)
|
rs147734401
|
0.00054
|
NM_004544.4(NDUFA10):c.*1482C>G
|
rs557576958
|
0.00054
|
NM_012073.5(CCT5):c.*882C>G
|
rs529512144
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_000217.3(KCNA1):c.*4739C>T
|
rs575527417
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001005373.4(LRSAM1):c.*121C>T
|
rs899262383
|
0.00053
|
NM_001113491.2(SEPTIN9):c.76+12764G>A
|
rs769442066
|
0.00053
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_002047.2(GARS1):c.-237A>C
|
rs540431164
|
0.00053
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00053
|
NM_002617.4(PEX10):c.*854G>A
|
rs556816263
|
0.00053
|
NM_002857.4(PEX19):c.-4C>T
|
rs201541204
|
0.00053
|
NM_003680.4(YARS1):c.*386G>T
|
rs144131403
|
0.00053
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_018319.4(TDP1):c.*1430G>C
|
rs34513682
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
NM_000318.3(PEX2):c.*2057G>A
|
rs568202276
|
0.00052
|
NM_001042472.3(ABHD12):c.*331G>A
|
rs927058842
|
0.00052
|
NM_001136472.2(LITAF):c.6G>A (p.Ser2=)
|
rs147187481
|
0.00052
|
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)
|
rs200160858
|
0.00052
|
NM_002617.4(PEX10):c.*10C>T
|
rs367845280
|
0.00052
|
NM_005006.7(NDUFS1):c.*151T>C
|
rs533179154
|
0.00052
|
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)
|
rs148078248
|
0.00052
|
NM_018972.4(GDAP1):c.*2463A>G
|
rs9643686
|
0.00052
|
NM_020312.4(COQ9):c.71C>T (p.Pro24Leu)
|
rs578214371
|
0.00052
|
NM_024577.4(SH3TC2):c.*10177T>A
|
rs149759395
|
0.00052
|
NM_024577.4(SH3TC2):c.*1765G>C
|
rs144178710
|
0.00052
|
NM_024577.4(SH3TC2):c.*21539T>C
|
rs542529184
|
0.00052
|
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)
|
rs149967939
|
0.00052
|
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=)
|
rs118188415
|
0.00052
|
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)
|
rs145203783
|
0.00052
|
NM_000143.4(FH):c.77C>T (p.Pro26Leu)
|
rs187226800
|
0.00051
|
NM_000487.6(ARSA):c.-159C>T
|
rs6151407
|
0.00051
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_000925.4(PDHB):c.701-3C>T
|
rs377063331
|
0.00051
|
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)
|
rs142368721
|
0.00051
|
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)
|
rs144942998
|
0.00051
|
NM_003680.3(YARS1):c.-129C>A
|
rs560979597
|
0.00051
|
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala)
|
rs184147813
|
0.00051
|
NM_004813.2(PEX16):c.-184A>G
|
rs745333570
|
0.00051
|
NM_004863.4(SPTLC2):c.1449A>T (p.Gly483=)
|
rs149054777
|
0.00051
|
NM_012073.5(CCT5):c.*1042T>C
|
rs376234447
|
0.00051
|
NM_012073.5(CCT5):c.*1087A>T
|
rs190835896
|
0.00051
|
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
|
rs151046729
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_018319.4(TDP1):c.*945C>T
|
rs540904390
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_022041.4(GAN):c.730A>G (p.Ile244Val)
|
rs200749953
|
0.00051
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
NM_170707.4(LMNA):c.-128T>C
|
rs80356803
|
0.00051
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_003477.3(PDHX):c.674C>T (p.Thr225Met)
|
rs148645836
|
0.00050
|
NM_012073.5(CCT5):c.*1294A>G
|
rs534017480
|
0.00050
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
NM_001034850.3(RETREG1):c.6G>C (p.Ala2=)
|
rs750740230
|
0.00049
|
NM_001113491.2(SEPTIN9):c.*1847G>A
|
rs535971752
|
0.00049
|
NM_001303.4(COX10):c.909C>T (p.Ala303=)
|
rs370260574
|
0.00049
|
NM_002180.3(IGHMBP2):c.*6C>T
|
rs117995705
|
0.00049
|
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)
|
rs143986510
|
0.00049
|
NM_002529.4(NTRK1):c.1252-15C>G
|
rs186649954
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_004863.4(SPTLC2):c.*4108G>A
|
rs140701933
|
0.00049
|
NM_005006.7(NDUFS1):c.*938C>T
|
rs780498090
|
0.00049
|
NM_006329.4(FBLN5):c.*363C>T
|
rs536827304
|
0.00049
|
NM_012073.5(CCT5):c.*1603G>A
|
rs150385942
|
0.00049
|
NM_014874.3(MFN2):c.-359C>G
|
rs997846275
|
0.00049
|
NM_000318.3(PEX2):c.*2004C>T
|
rs117344716
|
0.00048
|
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)
|
rs144401814
|
0.00048
|
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)
|
rs200560768
|
0.00048
|
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)
|
rs185711494
|
0.00048
|
NM_004863.4(SPTLC2):c.*4030T>G
|
rs185596488
|
0.00048
|
NM_022041.4(GAN):c.*32C>A
|
rs200964845
|
0.00048
|
NM_024577.4(SH3TC2):c.*9969_*9972del
|
rs113518050
|
0.00048
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00048
|
NM_000399.5(EGR2):c.*646C>T
|
rs555024997
|
0.00047
|
NM_000487.6(ARSA):c.*1212T>G
|
rs868201030
|
0.00047
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_001723.7(DST):c.6868A>G (p.Arg2290Gly)
|
rs112473525
|
0.00047
|
NM_002618.4(PEX13):c.*1649C>T
|
rs1042646135
|
0.00047
|
NM_004565.3(PEX14):c.78G>A (p.Glu26=)
|
rs144664869
|
0.00047
|
NM_014874.3(MFN2):c.-382G>A
|
rs568548916
|
0.00047
|
NM_181882.3(PRX):c.1651G>A (p.Val551Met)
|
rs61733448
|
0.00047
|
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln)
|
rs138936105
|
0.00046
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_000217.3(KCNA1):c.*2848A>G
|
rs562792530
|
0.00046
|
NM_000274.3(OAT):c.-83A>G
|
rs969985784
|
0.00046
|
NM_000274.4(OAT):c.1015-6A>G
|
rs561800688
|
0.00046
|
NM_000318.3(PEX2):c.*233C>G
|
rs190595998
|
0.00046
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn)
|
rs199636231
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_001127649.3(PEX26):c.*2807_*2808del
|
rs754613851
|
0.00046
|
NM_001127649.3(PEX26):c.*2810G>C
|
rs781588186
|
0.00046
|
NM_001127649.3(PEX26):c.667+8A>G
|
rs200880379
|
0.00046
|
NM_001370298.3(FGD4):c.*5309C>T
|
rs556209722
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_002618.4(PEX13):c.*1998T>C
|
rs559684247
|
0.00046
|
NM_004082.5(DCTN1):c.279+8C>T
|
rs376401397
|
0.00046
|
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
0.00046
|
NM_004863.4(SPTLC2):c.*2794C>T
|
rs191989490
|
0.00046
|
NM_004863.4(SPTLC2):c.*2962C>T
|
rs561137941
|
0.00046
|
NM_004863.4(SPTLC2):c.*3261C>A
|
rs566911644
|
0.00046
|
NM_004863.4(SPTLC2):c.*365A>G
|
rs532673076
|
0.00046
|
NM_006415.4(SPTLC1):c.*750C>T
|
rs768395365
|
0.00046
|
NM_015046.7(SETX):c.*1803G>A
|
rs556145432
|
0.00046
|
NM_021830.5(TWNK):c.*709C>G
|
rs41291470
|
0.00046
|
NM_024577.4(SH3TC2):c.*9953C>T
|
rs535186520
|
0.00046
|
NM_030962.4(SBF2):c.*875G>A
|
rs886048776
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_181882.3(PRX):c.2832T>C (p.Ala944=)
|
rs145226687
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
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_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys)
|
rs142182789
|
0.00045
|
NM_014365.3(HSPB8):c.-201G>T
|
rs764259720
|
0.00045
|
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=)
|
rs376823275
|
0.00045
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_174936.4(PCSK9):c.*1151del
|
rs563024336
|
0.00045
|
NM_000304.4(PMP22):c.*173C>T
|
rs117277951
|
0.00044
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_001370298.3(FGD4):c.*4831C>T
|
rs145433607
|
0.00044
|
NM_001386140.1(MTTP):c.502-12C>T
|
rs200628118
|
0.00044
|
NM_001953.5(TYMP):c.401C>T (p.Ala134Val)
|
rs199901350
|
0.00044
|
NM_002857.4(PEX19):c.*1335G>T
|
rs748536788
|
0.00044
|
NM_003560.4(PLA2G6):c.966C>T (p.His322=)
|
rs144033740
|
0.00044
|
NM_004544.4(NDUFA10):c.*2149C>T
|
rs570872300
|
0.00044
|
NM_022041.4(GAN):c.973+6G>A
|
rs372665411
|
0.00044
|
NM_024577.4(SH3TC2):c.*2004A>G
|
rs111746123
|
0.00044
|
NM_024577.4(SH3TC2):c.*7939C>A
|
rs144288040
|
0.00044
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val)
|
rs150321124
|
0.00043
|
NM_000166.6(GJB1):c.-6G>A
|
rs201344743
|
0.00043
|
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)
|
rs148101729
|
0.00043
|
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674
|
0.00043
|
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)
|
rs202047865
|
0.00043
|
NM_002617.4(PEX10):c.627G>A (p.Glu209=)
|
rs141430704
|
0.00043
|
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr)
|
rs145568490
|
0.00043
|
NM_003680.4(YARS1):c.*539A>G
|
rs550239801
|
0.00043
|
NM_006158.5(NEFL):c.*1293A>G
|
rs573350915
|
0.00043
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
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_024577.4(SH3TC2):c.*12710G>A
|
rs537800973
|
0.00043
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_030962.4(SBF2):c.*631T>C
|
rs573284772
|
0.00043
|
NM_033305.3(VPS13A):c.*185A>G
|
rs773434698
|
0.00043
|
NM_000304.4(PMP22):c.*542C>T
|
rs184928176
|
0.00042
|
NM_000520.6(HEXA):c.*436C>T
|
rs112626309
|
0.00042
|
NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala)
|
rs140967031
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_003477.3(PDHX):c.*743G>A
|
rs577162977
|
0.00042
|
NM_004863.4(SPTLC2):c.*3666T>G
|
rs146602683
|
0.00042
|
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met)
|
rs570675468
|
0.00042
|
NM_030962.4(SBF2):c.*1439C>A
|
rs531522907
|
0.00042
|
NM_030962.4(SBF2):c.*1441C>T
|
rs562275980
|
0.00042
|
NM_181882.3(PRX):c.966G>T (p.Val322=)
|
rs139544245
|
0.00042
|
NM_000287.4(PEX6):c.1234-11A>G
|
rs201879957
|
0.00041
|
NM_001034850.3(RETREG1):c.*1641A>G
|
rs778191948
|
0.00041
|
NM_001351132.2(PEX5):c.*1134T>A
|
rs769928491
|
0.00041
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
NM_001370298.3(FGD4):c.*3037C>A
|
rs886049267
|
0.00041
|
NM_001374736.1(DST):c.4638+7A>T
|
rs185349093
|
0.00041
|
NM_001605.3(AARS1):c.1428G>C (p.Arg476=)
|
rs80257731
|
0.00041
|
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg)
|
rs149577588
|
0.00041
|
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
|
rs11550119
|
0.00041
|
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)
|
rs141777179
|
0.00041
|
NM_004813.4(PEX16):c.149-6C>T
|
rs78883829
|
0.00041
|
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571
|
0.00041
|
NM_012073.4(CCT5):c.-125A>G
|
rs552002776
|
0.00041
|
NM_015046.7(SETX):c.*1454C>G
|
rs561712582
|
0.00041
|
NM_020247.5(COQ8A):c.1399-13G>A
|
rs73087649
|
0.00041
|
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)
|
rs144859183
|
0.00041
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_024577.4(SH3TC2):c.*6350G>A
|
rs184940808
|
0.00041
|
NM_024577.4(SH3TC2):c.*6820T>C
|
rs60176324
|
0.00041
|
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)
|
rs147302249
|
0.00041
|
NM_181882.3(PRX):c.2101G>A (p.Val701Met)
|
rs116855701
|
0.00041
|
NM_198252.3(GSN):c.271C>T (p.Arg91Trp)
|
rs146956976
|
0.00041
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
NM_000166.6(GJB1):c.*309G>A
|
rs181881705
|
0.00040
|
NM_000217.3(KCNA1):c.*1012A>T
|
rs886049519
|
0.00040
|
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)
|
rs150710403
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)
|
rs145724674
|
0.00040
|
NM_002496.4(NDUFS8):c.*44C>T
|
rs201815115
|
0.00040
|
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788
|
0.00040
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
NM_002618.4(PEX13):c.*263A>T
|
rs558525565
|
0.00040
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
NM_012073.5(CCT5):c.*841T>C
|
rs180679435
|
0.00040
|
NM_012073.5(CCT5):c.440A>G (p.His147Arg)
|
rs118203986
|
0.00040
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_021830.5(TWNK):c.*453G>A
|
rs769950933
|
0.00040
|
NM_024577.4(SH3TC2):c.*4511T>C
|
rs578024597
|
0.00040
|
NM_024577.4(SH3TC2):c.*9972T>C
|
rs778531473
|
0.00040
|
NM_133259.4(LRPPRC):c.1842+10C>T
|
rs373649496
|
0.00040
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
NM_000274.4(OAT):c.*61A>G
|
rs530505560
|
0.00039
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
NM_000487.6(ARSA):c.*2316C>T
|
rs117951552
|
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_001079866.2(BCS1L):c.126A>G (p.Ala42=)
|
rs144200704
|
0.00039
|
NM_001127649.3(PEX26):c.*1509C>G
|
rs571401889
|
0.00039
|
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met)
|
rs61758431
|
0.00039
|
NM_001351132.2(PEX5):c.754-4G>A
|
rs111286659
|
0.00039
|
NM_001365536.1(SCN9A):c.*3317A>G
|
rs191667986
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001374736.1(DST):c.2125A>G (p.Met709Val)
|
rs142650835
|
0.00039
|
NM_001386140.1(MTTP):c.394-7C>T
|
rs368989581
|
0.00039
|
NM_002618.4(PEX13):c.*1416G>T
|
rs573040186
|
0.00039
|
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)
|
rs146876119
|
0.00039
|
NM_004637.6(RAB7A):c.87G>A (p.Val29=)
|
rs145441548
|
0.00039
|
NM_006096.4(NDRG1):c.944-13C>T
|
rs753312340
|
0.00039
|
NM_007103.4(NDUFV1):c.155+12C>T
|
rs199963966
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly)
|
rs201355368
|
0.00039
|
NM_022041.4(GAN):c.*1943T>C
|
rs751490334
|
0.00039
|
NM_024577.4(SH3TC2):c.*1616C>T
|
rs758753462
|
0.00039
|
NM_024577.4(SH3TC2):c.*2248A>G
|
rs187399485
|
0.00039
|
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys)
|
rs149243712
|
0.00039
|
NM_000081.4(LYST):c.1655T>C (p.Val552Ala)
|
rs199617821
|
0.00038
|
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)
|
rs144351014
|
0.00038
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_001005361.3(DNM2):c.*88C>G
|
rs886054143
|
0.00038
|
NM_001113491.2(SEPTIN9):c.*903C>T
|
rs886053495
|
0.00038
|
NM_001130823.3(DNMT1):c.*253G>A
|
rs768761819
|
0.00038
|
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg)
|
rs62621087
|
0.00038
|
NM_001303.4(COX10):c.*859G>T
|
rs974629254
|
0.00038
|
NM_001365536.1(SCN9A):c.4399-14G>T
|
rs112927502
|
0.00038
|
NM_001605.3(AARS1):c.741G>A (p.Leu247=)
|
rs148075561
|
0.00038
|
NM_002496.4(NDUFS8):c.200-14C>T
|
rs373128833
|
0.00038
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
NM_004082.5(DCTN1):c.3610-14C>T
|
rs757854575
|
0.00038
|
NM_006158.5(NEFL):c.*436T>G
|
rs542234603
|
0.00038
|
NM_024577.4(SH3TC2):c.*15235A>G
|
rs145210501
|
0.00038
|
NM_000143.3(FH):c.*266A>G
|
rs113667027
|
0.00037
|
NM_000287.4(PEX6):c.*343G>C
|
rs117055658
|
0.00037
|
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu)
|
rs200026148
|
0.00037
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159
|
0.00037
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
NM_001953.5(TYMP):c.858G>A (p.Glu286=)
|
rs372421189
|
0.00037
|
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613
|
0.00037
|
NM_002529.4(NTRK1):c.*6C>T
|
rs370807813
|
0.00037
|
NM_003630.3(PEX3):c.*1335A>G
|
rs9403495
|
0.00037
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_022041.4(GAN):c.*2532T>C
|
rs528796667
|
0.00037
|
NM_024577.4(SH3TC2):c.*9969T>C
|
rs761191045
|
0.00037
|
NM_001005361.3(DNM2):c.*82C>T
|
rs569502521
|
0.00036
|
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His)
|
rs200871433
|
0.00036
|
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)
|
rs188888939
|
0.00036
|
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)
|
rs151018278
|
0.00036
|
NM_001351132.2(PEX5):c.*137C>T
|
rs773375737
|
0.00036
|
NM_001365536.1(SCN9A):c.*159T>C
|
rs201133173
|
0.00036
|
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)
|
rs762630777
|
0.00036
|
NM_001953.5(TYMP):c.995C>T (p.Ala332Val)
|
rs778306525
|
0.00036
|
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907
|
0.00036
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln)
|
rs146445744
|
0.00036
|
NM_004376.7(COX15):c.-84G>A
|
rs574143521
|
0.00036
|
NM_004544.4(NDUFA10):c.*1992C>T
|
rs373034894
|
0.00036
|
NM_004813.4(PEX16):c.695-6C>T
|
rs372182266
|
0.00036
|
NM_004863.4(SPTLC2):c.*4842A>C
|
rs538809593
|
0.00036
|
NM_005138.3(SCO2):c.237G>A (p.Arg79=)
|
rs150485659
|
0.00036
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_016156.6(MTMR2):c.-81G>A
|
rs772112416
|
0.00036
|
NM_018319.4(TDP1):c.1366+10G>A
|
rs200295380
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_133259.4(LRPPRC):c.*1911G>A
|
rs533572540
|
0.00036
|
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887
|
0.00035
|
NM_000370.3(TTPA):c.*806C>T
|
rs752352118
|
0.00035
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447
|
0.00035
|
NM_001113491.2(SEPTIN9):c.*578G>T
|
rs546283819
|
0.00035
|
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)
|
rs199584370
|
0.00035
|
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=)
|
rs144675407
|
0.00035
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)
|
rs144941725
|
0.00035
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_002618.4(PEX13):c.*1377G>A
|
rs536283006
|
0.00035
|
NM_002778.4(PSAP):c.-29C>T
|
rs201780377
|
0.00035
|
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)
|
rs150024227
|
0.00035
|
NM_004551.3(NDUFS3):c.381+6T>C
|
rs377579231
|
0.00035
|
NM_004863.4(SPTLC2):c.*695T>A
|
rs192822567
|
0.00035
|
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=)
|
rs150756641
|
0.00035
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_018319.4(TDP1):c.*950C>T
|
rs577840358
|
0.00035
|
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys)
|
rs144290291
|
0.00035
|
NM_078470.6(COX15):c.*2060C>T
|
rs886046606
|
0.00035
|
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)
|
rs202119177
|
0.00035
|
NM_000081.4(LYST):c.2946T>C (p.Tyr982=)
|
rs145892183
|
0.00034
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
NM_000286.3(PEX12):c.-495C>T
|
rs577172680
|
0.00034
|
NM_000370.3(TTPA):c.*161A>G
|
rs183885151
|
0.00034
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000487.6(ARSA):c.*2037C>T
|
rs568146327
|
0.00034
|
NM_000530.8(MPZ):c.*752G>A
|
rs533147214
|
0.00034
|
NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=)
|
rs78745349
|
0.00034
|
NM_001370298.3(FGD4):c.*1704C>G
|
rs886049263
|
0.00034
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_002618.4(PEX13):c.*446A>G
|
rs554737021
|
0.00034
|
NM_004082.5(DCTN1):c.*122A>C
|
rs777649011
|
0.00034
|
NM_004551.3(NDUFS3):c.628-7C>T
|
rs11039306
|
0.00034
|
NM_004813.4(PEX16):c.*107C>T
|
rs201513691
|
0.00034
|
NM_004863.4(SPTLC2):c.*4115G>T
|
rs542638116
|
0.00034
|
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)
|
rs137889316
|
0.00034
|
NM_006158.5(NEFL):c.*878A>G
|
rs189452316
|
0.00034
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=)
|
rs139570869
|
0.00034
|
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)
|
rs200641225
|
0.00034
|
NM_078470.6(COX15):c.*2282G>A
|
rs762075313
|
0.00034
|
NM_133259.4(LRPPRC):c.1920+11A>G
|
rs373513189
|
0.00034
|
NM_000158.4(GBE1):c.859G>C (p.Val287Leu)
|
rs116899644
|
0.00033
|
NM_000284.4(PDHA1):c.*729G>A
|
rs376808450
|
0.00033
|
NM_000530.8(MPZ):c.*341A>G
|
rs557613782
|
0.00033
|
NM_001113491.2(SEPTIN9):c.*207G>A
|
rs560243481
|
0.00033
|
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)
|
rs142609007
|
0.00033
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_002180.3(IGHMBP2):c.*692A>G
|
rs188469352
|
0.00033
|
NM_004551.3(NDUFS3):c.*32G>A
|
rs189495301
|
0.00033
|
NM_004863.4(SPTLC2):c.*5799C>T
|
rs142817152
|
0.00033
|
NM_006329.4(FBLN5):c.*121C>T
|
rs548351890
|
0.00033
|
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln)
|
rs144746398
|
0.00033
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_024577.4(SH3TC2):c.*837G>A
|
rs565462353
|
0.00033
|
NM_030962.4(SBF2):c.705T>C (p.Ser235=)
|
rs143209062
|
0.00033
|
NM_181882.3(PRX):c.960G>A (p.Ser320=)
|
rs775367319
|
0.00033
|
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg)
|
rs58750568
|
0.00033
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
NM_000217.3(KCNA1):c.*4903C>G
|
rs760686126
|
0.00032
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_001113491.2(SEPTIN9):c.*1896A>G
|
rs189204974
|
0.00032
|
NM_001127649.3(PEX26):c.*2386C>G
|
rs148534099
|
0.00032
|
NM_001136472.2(LITAF):c.*37G>C
|
rs201429019
|
0.00032
|
NM_001195248.2(APTX):c.*834C>G
|
rs770908697
|
0.00032
|
NM_001303.4(COX10):c.-29C>A
|
rs373184679
|
0.00032
|
NM_001351132.2(PEX5):c.*446_*452dup
|
rs771366153
|
0.00032
|
NM_001370298.3(FGD4):c.*2374G>T
|
rs753715337
|
0.00032
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_002857.4(PEX19):c.*2717A>G
|
rs574056299
|
0.00032
|
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu)
|
rs147487151
|
0.00032
|
NM_006096.3(NDRG1):c.*1706G>A
|
rs781277187
|
0.00032
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_024577.4(SH3TC2):c.*7391A>C
|
rs886060159
|
0.00032
|
NM_000081.4(LYST):c.2313G>A (p.Gln771=)
|
rs147220685
|
0.00031
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
NM_000318.3(PEX2):c.*1858G>A
|
rs777834563
|
0.00031
|
NM_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00031
|
NM_000487.6(ARSA):c.*15G>A
|
rs377187248
|
0.00031
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
NM_000530.8(MPZ):c.*743C>T
|
rs140992541
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_001127649.3(PEX26):c.*578A>G
|
rs150745941
|
0.00031
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
NM_001195248.2(APTX):c.*858C>G
|
rs772290850
|
0.00031
|
NM_001365536.1(SCN9A):c.*2222T>C
|
rs199958892
|
0.00031
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
NM_004544.3(NDUFA10):c.-87A>C
|
rs886055827
|
0.00031
|
NM_004863.4(SPTLC2):c.*1612G>A
|
rs769535377
|
0.00031
|
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)
|
rs201806038
|
0.00031
|
NM_014874.4(MFN2):c.*413C>T
|
rs558887681
|
0.00031
|
NM_016156.6(MTMR2):c.*1089C>G
|
rs147982779
|
0.00031
|
NM_022041.4(GAN):c.*1368T>C
|
rs568868279
|
0.00031
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696
|
0.00031
|
NM_024577.4(SH3TC2):c.*21703G>A
|
rs761390238
|
0.00031
|
NM_078470.6(COX15):c.*1309T>C
|
rs556850599
|
0.00031
|
NM_078470.6(COX15):c.929C>G (p.Pro310Arg)
|
rs138293000
|
0.00031
|
NM_133259.4(LRPPRC):c.*1584G>A
|
rs372330583
|
0.00031
|
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)
|
rs138621982
|
0.00030
|
NM_001005373.4(LRSAM1):c.*350C>A
|
rs764119919
|
0.00030
|
NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met)
|
rs367749123
|
0.00030
|
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)
|
rs200732890
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
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_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg)
|
rs367836863
|
0.00030
|
NM_002618.4(PEX13):c.*803A>G
|
rs561112537
|
0.00030
|
NM_002618.4(PEX13):c.*90A>G
|
rs535967834
|
0.00030
|
NM_004376.5(COX15):c.*4392G>A
|
rs764641759
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_024577.4(SH3TC2):c.*21728T>C
|
rs142485824
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367
|
0.00030
|
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val)
|
rs142981309
|
0.00030
|
NM_133259.4(LRPPRC):c.*2376C>G
|
rs886056040
|
0.00030
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000081.4(LYST):c.3394-14T>C
|
rs372892911
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000158.4(GBE1):c.*466G>A
|
rs571158601
|
0.00029
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000286.3(PEX12):c.*380G>C
|
rs762716335
|
0.00029
|
NM_000287.4(PEX6):c.25C>T (p.Leu9=)
|
rs183449855
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_000318.3(PEX2):c.*1749A>T
|
rs556984036
|
0.00029
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000487.6(ARSA):c.-142G>A
|
rs886057660
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000520.6(HEXA):c.*355C>G
|
rs188399769
|
0.00029
|
NM_001005361.3(DNM2):c.*10G>A
|
rs200188660
|
0.00029
|
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=)
|
rs199887448
|
0.00029
|
NM_001042472.3(ABHD12):c.*22A>G
|
rs377339443
|
0.00029
|
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=)
|
rs184232860
|
0.00029
|
NM_001113491.2(SEPTIN9):c.1699G>A (p.Glu567Lys)
|
rs201409034
|
0.00029
|
NM_001127649.3(PEX26):c.*977C>T
|
rs181706274
|
0.00029
|
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met)
|
rs144897942
|
0.00029
|
NM_001370298.3(FGD4):c.*368T>C
|
rs925762740
|
0.00029
|
NM_001374736.1(DST):c.4046C>T (p.Ala1349Val)
|
rs150656535
|
0.00029
|
NM_001386140.1(MTTP):c.-82C>T
|
rs767201629
|
0.00029
|
NM_001386140.1(MTTP):c.-84T>C
|
rs761717058
|
0.00029
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=)
|
rs140296831
|
0.00029
|
NM_002506.3(NGF):c.247C>T (p.Arg83Cys)
|
rs138175552
|
0.00029
|
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)
|
rs145823996
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_002618.4(PEX13):c.*962G>A
|
rs931059778
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
NM_004082.5(DCTN1):c.597G>A (p.Pro199=)
|
rs143607419
|
0.00029
|
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=)
|
rs143934634
|
0.00029
|
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)
|
rs147428514
|
0.00029
|
NM_006096.4(NDRG1):c.-19+14C>G
|
rs886062716
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_016156.6(MTMR2):c.*1888del
|
rs775823662
|
0.00029
|
NM_018972.4(GDAP1):c.*1429A>G
|
rs78545774
|
0.00029
|
NM_020631.4(PLEKHG5):c.*1289C>G
|
rs886046487
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107
|
0.00029
|
NM_024577.4(SH3TC2):c.*1254T>C
|
rs752672326
|
0.00029
|
NM_030962.4(SBF2):c.*480G>A
|
rs148002177
|
0.00029
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_181882.3(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566
|
0.00029
|
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln)
|
rs141510612
|
0.00029
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000784.4(CYP27A1):c.*47G>A
|
rs140059093
|
0.00028
|
NM_001113491.2(SEPTIN9):c.1125-10C>T
|
rs199872443
|
0.00028
|
NM_001113491.2(SEPTIN9):c.76+12350G>C
|
rs534426016
|
0.00028
|
NM_001127649.3(PEX26):c.*114C>T
|
rs45500699
|
0.00028
|
NM_001374736.1(DST):c.3964-11C>T
|
rs371499560
|
0.00028
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_002778.4(PSAP):c.-28A>C
|
rs375720661
|
0.00028
|
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)
|
rs142530390
|
0.00028
|
NM_003630.3(PEX3):c.*677C>T
|
rs886061136
|
0.00028
|
NM_004082.5(DCTN1):c.558G>A (p.Pro186=)
|
rs201078804
|
0.00028
|
NM_004813.2(PEX16):c.-164G>T
|
rs773746164
|
0.00028
|
NM_004863.4(SPTLC2):c.*4825C>T
|
rs193215155
|
0.00028
|
NM_018972.4(GDAP1):c.*873T>C
|
rs573385308
|
0.00028
|
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)
|
rs370666430
|
0.00028
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272
|
0.00028
|
NM_024577.4(SH3TC2):c.*12509T>C
|
rs550901114
|
0.00028
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_030962.4(SBF2):c.*963C>T
|
rs144512459
|
0.00028
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669
|
0.00027
|
NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=)
|
rs80015943
|
0.00027
|
NM_001127649.3(PEX26):c.*2339G>A
|
rs772852627
|
0.00027
|
NM_001351132.2(PEX5):c.-17+273G>T
|
rs117442311
|
0.00027
|
NM_001370298.3(FGD4):c.*5244G>A
|
rs186014657
|
0.00027
|
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)
|
rs201185829
|
0.00027
|
NM_002617.4(PEX10):c.*410G>A
|
rs886046144
|
0.00027
|
NM_003630.3(PEX3):c.*895G>A
|
rs3804545
|
0.00027
|
NM_004544.4(NDUFA10):c.*679A>G
|
rs374065697
|
0.00027
|
NM_004813.4(PEX16):c.*70C>G
|
rs530762140
|
0.00027
|
NM_015046.7(SETX):c.*1688A>G
|
rs773351268
|
0.00027
|
NM_024577.4(SH3TC2):c.*44G>A
|
rs200095406
|
0.00027
|
NM_024577.4(SH3TC2):c.*4603C>T
|
rs144955630
|
0.00027
|
NM_024577.4(SH3TC2):c.*6623G>A
|
rs78100143
|
0.00027
|
NM_024577.4(SH3TC2):c.*882G>A
|
rs775429372
|
0.00027
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
NM_000166.6(GJB1):c.*277A>G
|
rs759936874
|
0.00026
|
NM_000274.4(OAT):c.*311T>C
|
rs753216934
|
0.00026
|
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)
|
rs757654963
|
0.00026
|
NM_000487.6(ARSA):c.*2301T>C
|
rs534387866
|
0.00026
|
NM_000530.8(MPZ):c.*435T>G
|
rs868502674
|
0.00026
|
NM_001005361.3(DNM2):c.*321A>G
|
rs149937994
|
0.00026
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_001034850.3(RETREG1):c.*1169G>A
|
rs914670182
|
0.00026
|
NM_001113491.2(SEPTIN9):c.*372C>T
|
rs773235757
|
0.00026
|
NM_001113491.2(SEPTIN9):c.76+12362T>G
|
rs370236963
|
0.00026
|
NM_001127649.3(PEX26):c.198C>T (p.Ala66=)
|
rs374290931
|
0.00026
|
NM_001127649.3(PEX26):c.207C>T (p.Ala69=)
|
rs375516973
|
0.00026
|
NM_001351132.2(PEX5):c.*627C>T
|
rs146897980
|
0.00026
|
NM_001365536.1(SCN9A):c.*18A>G
|
rs150401869
|
0.00026
|
NM_001376.5(DYNC1H1):c.-13C>G
|
rs537857759
|
0.00026
|
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490
|
0.00026
|
NM_006096.4(NDRG1):c.*1473G>A
|
rs187466317
|
0.00026
|
NM_006329.4(FBLN5):c.989+9C>T
|
rs557362799
|
0.00026
|
NM_014317.5(PDSS1):c.467+9T>G
|
rs202187965
|
0.00026
|
NM_014365.2(HSPB8):c.-480C>G
|
rs886049024
|
0.00026
|
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)
|
rs139133094
|
0.00026
|
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu)
|
rs572530276
|
0.00026
|
NM_021625.5(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510
|
0.00026
|
NM_021830.5(TWNK):c.-592C>T
|
rs774214514
|
0.00026
|
NM_022041.4(GAN):c.*1138A>G
|
rs554886016
|
0.00026
|
NM_022041.4(GAN):c.*1949G>C
|
rs191873952
|
0.00026
|
NM_022041.4(GAN):c.974-11G>C
|
rs753746307
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_024577.4(SH3TC2):c.*20469C>T
|
rs886060097
|
0.00026
|
NM_024577.4(SH3TC2):c.*2716T>C
|
rs577940138
|
0.00026
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)
|
rs148891181
|
0.00026
|
NM_133259.4(LRPPRC):c.*1121G>T
|
rs371325663
|
0.00026
|
NM_133259.4(LRPPRC):c.*2289A>T
|
rs777772528
|
0.00026
|
NM_198252.3(GSN):c.1563C>T (p.Ser521=)
|
rs140414249
|
0.00026
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
NM_000217.3(KCNA1):c.*5209C>T
|
rs189939908
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001136472.2(LITAF):c.*1627G>A
|
rs62022848
|
0.00025
|
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)
|
rs201984007
|
0.00025
|
NM_001370298.3(FGD4):c.*3044T>C
|
rs747748956
|
0.00025
|
NM_001370298.3(FGD4):c.*5484T>C
|
rs577630567
|
0.00025
|
NM_004168.4(SDHA):c.895+13G>A
|
rs201461936
|
0.00025
|
NM_004637.6(RAB7A):c.*625T>C
|
rs545004919
|
0.00025
|
NM_004863.4(SPTLC2):c.*2807C>G
|
rs560223593
|
0.00025
|
NM_006096.4(NDRG1):c.*525G>A
|
rs185153183
|
0.00025
|
NM_006329.4(FBLN5):c.862+12C>T
|
rs202088447
|
0.00025
|
NM_014874.4(MFN2):c.*1054C>T
|
rs951038336
|
0.00025
|
NM_014874.4(MFN2):c.*1539G>A
|
rs557643473
|
0.00025
|
NM_015046.7(SETX):c.*891T>C
|
rs573743210
|
0.00025
|
NM_018972.4(GDAP1):c.*1701T>C
|
rs781146378
|
0.00025
|
NM_020247.5(COQ8A):c.*612C>T
|
rs747804729
|
0.00025
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)
|
rs201241092
|
0.00025
|
NM_024577.4(SH3TC2):c.*10546C>T
|
rs186003687
|
0.00025
|
NM_024577.4(SH3TC2):c.*626G>A
|
rs781581124
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)
|
rs550446238
|
0.00025
|
NM_198252.3(GSN):c.1098G>A (p.Val366=)
|
rs201325199
|
0.00025
|
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys)
|
rs139832048
|
0.00025
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
NM_000217.3(KCNA1):c.*947C>T
|
rs557429239
|
0.00024
|
NM_000284.4(PDHA1):c.-79C>T
|
rs942040058
|
0.00024
|
NM_000287.4(PEX6):c.-79C>T
|
rs186587060
|
0.00024
|
NM_000370.3(TTPA):c.*326T>A
|
rs529634119
|
0.00024
|
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_000487.6(ARSA):c.*1207T>G
|
rs985590155
|
0.00024
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001034850.3(RETREG1):c.17C>T (p.Pro6Leu)
|
rs894277583
|
0.00024
|
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=)
|
rs143904813
|
0.00024
|
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)
|
rs138841970
|
0.00024
|
NM_001136472.2(LITAF):c.*500A>G
|
rs767760361
|
0.00024
|
NM_001136472.2(LITAF):c.*904G>A
|
rs192766322
|
0.00024
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
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_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)
|
rs147924368
|
0.00024
|
NM_003680.4(YARS1):c.-110G>A
|
rs748353138
|
0.00024
|
NM_003680.4(YARS1):c.60G>A (p.Glu20=)
|
rs143712443
|
0.00024
|
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala)
|
rs72466493
|
0.00024
|
NM_004544.4(NDUFA10):c.*1206G>A
|
rs192203978
|
0.00024
|
NM_004544.4(NDUFA10):c.*1245G>A
|
rs187916829
|
0.00024
|
NM_004544.4(NDUFA10):c.*2685C>A
|
rs114807372
|
0.00024
|
NM_004813.4(PEX16):c.1002T>C (p.Ser334=)
|
rs144897515
|
0.00024
|
NM_004863.3(SPTLC2):c.-160A>G
|
rs886050852
|
0.00024
|
NM_004863.4(SPTLC2):c.851-5T>C
|
rs199867946
|
0.00024
|
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172
|
0.00024
|
NM_022041.4(GAN):c.*1883C>G
|
rs76019247
|
0.00024
|
NM_024577.4(SH3TC2):c.*14827T>A
|
rs569378409
|
0.00024
|
NM_024577.4(SH3TC2):c.*19438C>A
|
rs533701005
|
0.00024
|
NM_078470.6(COX15):c.*1594C>G
|
rs886046607
|
0.00024
|
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)
|
rs149693840
|
0.00024
|
NM_000274.4(OAT):c.-12T>G
|
rs775990544
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000370.3(TTPA):c.*1365A>C
|
rs181348477
|
0.00023
|
NM_000371.3(TTR):c.*191C>T
|
rs556327750
|
0.00023
|
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)
|
rs141982176
|
0.00023
|
NM_000384.3(APOB):c.5763A>G (p.Gly1921=)
|
rs141022509
|
0.00023
|
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala)
|
rs148429884
|
0.00023
|
NM_000487.6(ARSA):c.*342A>G
|
rs182635438
|
0.00023
|
NM_001042472.3(ABHD12):c.960C>T (p.His320=)
|
rs146195280
|
0.00023
|
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile)
|
rs201213597
|
0.00023
|
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)
|
rs62621089
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
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_002529.4(NTRK1):c.641G>A (p.Arg214Gln)
|
rs200132482
|
0.00023
|
NM_002617.4(PEX10):c.*401A>C
|
rs866387988
|
0.00023
|
NM_002618.4(PEX13):c.*2495A>T
|
rs777198802
|
0.00023
|
NM_003630.3(PEX3):c.*287A>G
|
rs779692327
|
0.00023
|
NM_004376.5(COX15):c.*3800C>A
|
rs576990987
|
0.00023
|
NM_004376.6(COX15):c.-114A>G
|
rs539821050
|
0.00023
|
NM_004544.4(NDUFA10):c.*183C>T
|
rs112660586
|
0.00023
|
NM_005006.7(NDUFS1):c.-64T>C
|
rs145023130
|
0.00023
|
NM_006308.3(HSPB3):c.*109A>C
|
rs564437576
|
0.00023
|
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)
|
rs147724326
|
0.00023
|
NM_018972.4(GDAP1):c.*1415C>T
|
rs558846970
|
0.00023
|
NM_024577.4(SH3TC2):c.*10064C>T
|
rs904197605
|
0.00023
|
NM_024577.4(SH3TC2):c.*5741G>A
|
rs538159827
|
0.00023
|
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175
|
0.00023
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
NM_170707.4(LMNA):c.1698+83G>A
|
rs555844506
|
0.00023
|
NM_000081.4(LYST):c.2754G>A (p.Glu918=)
|
rs373577384
|
0.00022
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00022
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326
|
0.00022
|
NM_000217.3(KCNA1):c.*2313C>T
|
rs183989674
|
0.00022
|
NM_000217.3(KCNA1):c.*4663G>A
|
rs186319441
|
0.00022
|
NM_000286.3(PEX12):c.*923G>A
|
rs576761038
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000487.6(ARSA):c.*2368A>T
|
rs570115432
|
0.00022
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_000784.4(CYP27A1):c.*195G>C
|
rs886055632
|
0.00022
|
NM_001113491.2(SEPTIN9):c.*1253T>G
|
rs748692946
|
0.00022
|
NM_001370298.3(FGD4):c.*5223G>A
|
rs886049280
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
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_002496.4(NDUFS8):c.502-13C>T
|
rs199793417
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_004168.4(SDHA):c.-2A>T
|
rs763680697
|
0.00022
|
NM_004589.4(SCO1):c.*326C>T
|
rs959024756
|
0.00022
|
NM_004637.5(RAB7A):c.-215C>T
|
rs560785742
|
0.00022
|
NM_004863.4(SPTLC2):c.*4037G>A
|
rs144430502
|
0.00022
|
NM_006158.5(NEFL):c.*1744T>C
|
rs886062825
|
0.00022
|
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=)
|
rs139299777
|
0.00022
|
NM_012073.5(CCT5):c.86T>C (p.Met29Thr)
|
rs141133834
|
0.00022
|
NM_015046.7(SETX):c.*2384T>A
|
rs570456500
|
0.00022
|
NM_018319.4(TDP1):c.*1355G>A
|
rs755484553
|
0.00022
|
NM_018319.4(TDP1):c.884+5G>A
|
rs370991229
|
0.00022
|
NM_020247.5(COQ8A):c.*234G>A
|
rs188462608
|
0.00022
|
NM_021625.5(TRPV4):c.*99C>T
|
rs552478250
|
0.00022
|
NM_024577.4(SH3TC2):c.*19411T>C
|
rs780022559
|
0.00022
|
NM_174936.4(PCSK9):c.*950C>T
|
rs72646537
|
0.00022
|
NM_181882.3(PRX):c.993G>A (p.Pro331=)
|
rs146323928
|
0.00022
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
NM_000081.4(LYST):c.9045-13T>C
|
rs181450025
|
0.00021
|
NM_000182.5(HADHA):c.*586G>A
|
rs749568626
|
0.00021
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
NM_000217.3(KCNA1):c.*486G>C
|
rs764863360
|
0.00021
|
NM_000304.4(PMP22):c.*894C>T
|
rs916402753
|
0.00021
|
NM_000487.6(ARSA):c.*527A>G
|
rs898694289
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590
|
0.00021
|
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=)
|
rs375450011
|
0.00021
|
NM_001127649.3(PEX26):c.*280G>A
|
rs188897908
|
0.00021
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
NM_001303.4(COX10):c.192G>A (p.Leu64=)
|
rs569444237
|
0.00021
|
NM_001351132.2(PEX5):c.*322C>T
|
rs764082627
|
0.00021
|
NM_001370298.3(FGD4):c.167-61790C>T
|
rs531501340
|
0.00021
|
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_001386140.1(MTTP):c.*989T>C
|
rs183510498
|
0.00021
|
NM_001605.3(AARS1):c.*131G>A
|
rs555883502
|
0.00021
|
NM_001953.5(TYMP):c.1176C>T (p.Val392=)
|
rs770533125
|
0.00021
|
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=)
|
rs370850999
|
0.00021
|
NM_002529.4(NTRK1):c.630C>T (p.Asp210=)
|
rs147882947
|
0.00021
|
NM_002617.4(PEX10):c.*310G>A
|
rs539850807
|
0.00021
|
NM_002617.4(PEX10):c.776+8C>T
|
rs370594705
|
0.00021
|
NM_002857.4(PEX19):c.*2224G>T
|
rs573966291
|
0.00021
|
NM_002857.4(PEX19):c.*2536A>G
|
rs141829599
|
0.00021
|
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)
|
rs147948716
|
0.00021
|
NM_003477.3(PDHX):c.542+10T>C
|
rs368960575
|
0.00021
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00021
|
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)
|
rs141187412
|
0.00021
|
NM_004565.3(PEX14):c.360A>G (p.Ala120=)
|
rs148479162
|
0.00021
|
NM_004565.3(PEX14):c.400C>G (p.Leu134Val)
|
rs140476337
|
0.00021
|
NM_004637.6(RAB7A):c.*402T>A
|
rs950767971
|
0.00021
|
NM_004863.4(SPTLC2):c.*1457C>T
|
rs542322275
|
0.00021
|
NM_004863.4(SPTLC2):c.*288C>T
|
rs187745450
|
0.00021
|
NM_005006.7(NDUFS1):c.*966A>G
|
rs755776989
|
0.00021
|
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
|
rs140692906
|
0.00021
|
NM_006158.5(NEFL):c.*1806T>C
|
rs192937928
|
0.00021
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
NM_012073.5(CCT5):c.*69C>T
|
rs535827783
|
0.00021
|
NM_012073.5(CCT5):c.1425C>T (p.Thr475=)
|
rs370529963
|
0.00021
|
NM_014365.2(HSPB8):c.-457A>G
|
rs564088535
|
0.00021
|
NM_014365.3(HSPB8):c.*788C>T
|
rs975396136
|
0.00021
|
NM_014874.4(MFN2):c.*1535C>T
|
rs778755558
|
0.00021
|
NM_015046.7(SETX):c.*988G>A
|
rs182693244
|
0.00021
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00021
|
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
0.00021
|
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)
|
rs140817021
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)
|
rs117860293
|
0.00021
|
NM_078470.6(COX15):c.664C>T (p.Arg222Cys)
|
rs2231682
|
0.00021
|
NM_198252.3(GSN):c.*98T>A
|
rs903037306
|
0.00021
|
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)
|
rs200511787
|
0.00020
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
NM_000217.3(KCNA1):c.*1308C>T
|
rs575443810
|
0.00020
|
NM_000217.3(KCNA1):c.*592C>A
|
rs144000949
|
0.00020
|
NM_000217.3(KCNA1):c.-420C>A
|
rs1036896109
|
0.00020
|
NM_000286.3(PEX12):c.84T>C (p.Ser28=)
|
rs200641558
|
0.00020
|
NM_001005361.3(DNM2):c.*79G>A
|
rs550692861
|
0.00020
|
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln)
|
rs142782210
|
0.00020
|
NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=)
|
rs371418239
|
0.00020
|
NM_001370298.3(FGD4):c.*2026A>G
|
rs765502938
|
0.00020
|
NM_001370298.3(FGD4):c.*3543G>C
|
rs753405606
|
0.00020
|
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)
|
rs138672490
|
0.00020
|
NM_003680.4(YARS1):c.1228G>A (p.Val410Met)
|
rs146393022
|
0.00020
|
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)
|
rs140776586
|
0.00020
|
NM_004551.3(NDUFS3):c.*39C>T
|
rs145121567
|
0.00020
|
NM_006096.4(NDRG1):c.63+6T>C
|
rs199597649
|
0.00020
|
NM_006308.3(HSPB3):c.321C>T (p.His107=)
|
rs367560285
|
0.00020
|
NM_007103.4(NDUFV1):c.700+12C>T
|
rs200417926
|
0.00020
|
NM_020312.4(COQ9):c.*378G>A
|
rs190372643
|
0.00020
|
NM_021625.5(TRPV4):c.*500C>T
|
rs929739314
|
0.00020
|
NM_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_024577.4(SH3TC2):c.*15967C>T
|
rs139941418
|
0.00020
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_033305.3(VPS13A):c.1453-15C>T
|
rs200334710
|
0.00020
|
NM_198252.3(GSN):c.-9-1967C>T
|
rs372837702
|
0.00020
|
NM_000143.4(FH):c.1237-12A>T
|
rs74405673
|
0.00019
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)
|
rs201166587
|
0.00019
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)
|
rs187435179
|
0.00019
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_000370.3(TTPA):c.*364A>T
|
rs559345463
|
0.00019
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=)
|
rs187657144
|
0.00019
|
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp)
|
rs769536524
|
0.00019
|
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)
|
rs140208002
|
0.00019
|
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=)
|
rs369470867
|
0.00019
|
NM_001136472.2(LITAF):c.*1364A>C
|
rs775642546
|
0.00019
|
NM_001351132.2(PEX5):c.*495G>A
|
rs776371289
|
0.00019
|
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)
|
rs200826539
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)
|
rs187558439
|
0.00019
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001386140.1(MTTP):c.799T>C (p.Leu267=)
|
rs7672497
|
0.00019
|
NM_001605.3(AARS1):c.1493-7T>C
|
rs376087556
|
0.00019
|
NM_001605.3(AARS1):c.561C>T (p.Cys187=)
|
rs78523270
|
0.00019
|
NM_001723.7(DST):c.7284A>G (p.Thr2428=)
|
rs150845451
|
0.00019
|
NM_002180.3(IGHMBP2):c.*117G>A
|
rs745828352
|
0.00019
|
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His)
|
rs201640213
|
0.00019
|
NM_002180.3(IGHMBP2):c.366C>T (p.His122=)
|
rs144401213
|
0.00019
|
NM_002506.3(NGF):c.-13+14G>A
|
rs553442923
|
0.00019
|
NM_002617.4(PEX10):c.*420G>A
|
rs868844283
|
0.00019
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)
|
rs371920697
|
0.00019
|
NM_004544.4(NDUFA10):c.749+11C>T
|
rs200760509
|
0.00019
|
NM_005006.7(NDUFS1):c.*130A>C
|
rs200736574
|
0.00019
|
NM_006096.4(NDRG1):c.*1340G>A
|
rs12668
|
0.00019
|
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys)
|
rs146613168
|
0.00019
|
NM_006308.2(HSPB3):c.-136G>A
|
rs563501231
|
0.00019
|
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)
|
rs142907552
|
0.00019
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)
|
rs199543483
|
0.00019
|
NM_014874.4(MFN2):c.*946C>A
|
rs765105334
|
0.00019
|
NM_015046.7(SETX):c.*2065dup
|
rs886063546
|
0.00019
|
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)
|
rs200507089
|
0.00019
|
NM_018972.4(GDAP1):c.*18C>T
|
rs147945220
|
0.00019
|
NM_018979.4(WNK1):c.*1904dup
|
rs1555165765
|
0.00019
|
NM_020631.4(PLEKHG5):c.*1186A>G
|
rs540290288
|
0.00019
|
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)
|
rs150666859
|
0.00019
|
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871
|
0.00019
|
NM_022041.4(GAN):c.283-14T>C
|
rs369700456
|
0.00019
|
NM_078470.6(COX15):c.*2745T>G
|
rs952880831
|
0.00019
|
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)
|
rs200017171
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln)
|
rs146222815
|
0.00019
|
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)
|
rs757322355
|
0.00019
|
NM_198252.3(GSN):c.1421G>A (p.Arg474His)
|
rs142828669
|
0.00019
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
NM_000284.4(PDHA1):c.*1306G>A
|
rs745566169
|
0.00018
|
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)
|
rs202166915
|
0.00018
|
NM_000286.3(PEX12):c.-434A>C
|
rs771210303
|
0.00018
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
|
rs539784253
|
0.00018
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00018
|
NM_001005373.4(LRSAM1):c.-199A>G
|
rs760403428
|
0.00018
|
NM_001113491.2(SEPTIN9):c.*45C>T
|
rs756589796
|
0.00018
|
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn)
|
rs201560726
|
0.00018
|
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=)
|
rs768871202
|
0.00018
|
NM_001136472.2(LITAF):c.241G>A (p.Val81Met)
|
rs201653834
|
0.00018
|
NM_002506.3(NGF):c.165G>A (p.Pro55=)
|
rs149876217
|
0.00018
|
NM_002617.4(PEX10):c.27G>A (p.Pro9=)
|
rs559431523
|
0.00018
|
NM_002857.4(PEX19):c.*1980T>C
|
rs372976790
|
0.00018
|
NM_002857.4(PEX19):c.*2413C>T
|
rs183164292
|
0.00018
|
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)
|
rs146252218
|
0.00018
|
NM_004863.4(SPTLC2):c.*5357A>G
|
rs139325375
|
0.00018
|
NM_005006.7(NDUFS1):c.1393-7T>A
|
rs200409285
|
0.00018
|
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)
|
rs148726142
|
0.00018
|
NM_012073.5(CCT5):c.*1289T>C
|
rs76573887
|
0.00018
|
NM_018319.4(TDP1):c.*1203G>T
|
rs531417402
|
0.00018
|
NM_018319.4(TDP1):c.*228T>G
|
rs954549405
|
0.00018
|
NM_181882.3(PRX):c.-160C>T
|
rs763423646
|
0.00018
|
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp)
|
rs201337455
|
0.00018
|
NM_000081.4(LYST):c.2700A>G (p.Leu900=)
|
rs111463684
|
0.00017
|
NM_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
NM_000370.3(TTPA):c.*554C>T
|
rs576595274
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)
|
rs151333262
|
0.00017
|
NM_000925.4(PDHB):c.*201T>C
|
rs375277648
|
0.00017
|
NM_001005373.4(LRSAM1):c.*590T>C
|
rs139260397
|
0.00017
|
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835
|
0.00017
|
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=)
|
rs184125970
|
0.00017
|
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=)
|
rs141264613
|
0.00017
|
NM_001303.4(COX10):c.624+4A>G
|
rs199668725
|
0.00017
|
NM_001365536.1(SCN9A):c.3472+14T>C
|
rs201979079
|
0.00017
|
NM_002529.4(NTRK1):c.631G>A (p.Val211Met)
|
rs201192875
|
0.00017
|
NM_002618.4(PEX13):c.*3126A>G
|
rs745626475
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)
|
rs75430333
|
0.00017
|
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)
|
rs146684391
|
0.00017
|
NM_004863.4(SPTLC2):c.*536T>G
|
rs45612439
|
0.00017
|
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu)
|
rs147023714
|
0.00017
|
NM_005908.4(MANBA):c.2416-3C>T
|
rs375466384
|
0.00017
|
NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln)
|
rs376818531
|
0.00017
|
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
NM_015046.7(SETX):c.-123C>A
|
rs184570956
|
0.00017
|
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys)
|
rs141387488
|
0.00017
|
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr)
|
rs148927677
|
0.00017
|
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=)
|
rs367560509
|
0.00017
|
NM_024577.4(SH3TC2):c.*12189C>T
|
rs192729911
|
0.00017
|
NM_024577.4(SH3TC2):c.*8649A>G
|
rs914913642
|
0.00017
|
NM_030962.4(SBF2):c.-101A>C
|
rs886047577
|
0.00017
|
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)
|
rs191964053
|
0.00017
|
NM_133259.4(LRPPRC):c.*409C>G
|
rs187382374
|
0.00017
|
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)
|
rs367876251
|
0.00017
|
NM_000081.4(LYST):c.6291C>T (p.Ala2097=)
|
rs199857997
|
0.00016
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
0.00016
|
NM_000143.4(FH):c.*92G>T
|
rs202167168
|
0.00016
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
NM_000217.3(KCNA1):c.*4303A>T
|
rs886049535
|
0.00016
|
NM_000284.4(PDHA1):c.*1458C>T
|
rs923765752
|
0.00016
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370
|
0.00016
|
NM_000318.3(PEX2):c.*1400A>G
|
rs1002618013
|
0.00016
|
NM_000318.3(PEX2):c.*2518C>T
|
rs886063124
|
0.00016
|
NM_000370.3(TTPA):c.*735T>C
|
rs886063064
|
0.00016
|
NM_000371.3(TTR):c.*304C>T
|
rs541989755
|
0.00016
|
NM_000466.3(PEX1):c.-19A>G
|
rs368326503
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys)
|
rs143635580
|
0.00016
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
NM_000784.4(CYP27A1):c.1017+5G>A
|
rs370304209
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_001005361.3(DNM2):c.*453C>T
|
rs200104482
|
0.00016
|
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu)
|
rs528532732
|
0.00016
|
NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=)
|
rs201471541
|
0.00016
|
NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=)
|
rs546188962
|
0.00016
|
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)
|
rs370926100
|
0.00016
|
NM_001127649.3(PEX26):c.*1152G>C
|
rs886057252
|
0.00016
|
NM_001127649.3(PEX26):c.-381C>T
|
rs561094254
|
0.00016
|
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu)
|
rs368118099
|
0.00016
|
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=)
|
rs202058239
|
0.00016
|
NM_001136472.2(LITAF):c.-6+539G>A
|
rs545189325
|
0.00016
|
NM_001303.4(COX10):c.*1459del
|
rs574015313
|
0.00016
|
NM_001303.4(COX10):c.*823C>T
|
rs886052609
|
0.00016
|
NM_001303.4(COX10):c.311C>T (p.Pro104Leu)
|
rs202207627
|
0.00016
|
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)
|
rs202002028
|
0.00016
|
NM_001370298.3(FGD4):c.167-61974A>C
|
rs192626243
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005
|
0.00016
|
NM_002529.4(NTRK1):c.*39C>T
|
rs774009893
|
0.00016
|
NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp)
|
rs372041586
|
0.00016
|
NM_002618.4(PEX13):c.*2159T>C
|
rs886056206
|
0.00016
|
NM_002778.4(PSAP):c.*376A>G
|
rs141906397
|
0.00016
|
NM_002778.4(PSAP):c.*737G>A
|
rs147046509
|
0.00016
|
NM_002857.4(PEX19):c.*169C>T
|
rs192931972
|
0.00016
|
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)
|
rs587669420
|
0.00016
|
NM_004082.5(DCTN1):c.570G>A (p.Pro190=)
|
rs528908728
|
0.00016
|
NM_004589.4(SCO1):c.*349C>G
|
rs151279533
|
0.00016
|
NM_004813.4(PEX16):c.726G>A (p.Ser242=)
|
rs200414298
|
0.00016
|
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)
|
rs142716964
|
0.00016
|
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)
|
rs140532785
|
0.00016
|
NM_014317.5(PDSS1):c.243C>T (p.Thr81=)
|
rs762902803
|
0.00016
|
NM_014365.3(HSPB8):c.*648A>G
|
rs770364674
|
0.00016
|
NM_014845.6(FIG4):c.-138T>C
|
rs550585093
|
0.00016
|
NM_014845.6(FIG4):c.-84A>G
|
rs764845399
|
0.00016
|
NM_014874.4(MFN2):c.*1794_*1796del
|
rs540280019
|
0.00016
|
NM_018319.4(TDP1):c.885-15T>C
|
rs375601290
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)
|
rs142749412
|
0.00016
|
NM_021625.5(TRPV4):c.1658+15C>T
|
rs200083069
|
0.00016
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=)
|
rs375120743
|
0.00016
|
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=)
|
rs147597665
|
0.00016
|
NM_030962.4(SBF2):c.514-12C>T
|
rs770141264
|
0.00016
|
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)
|
rs200107412
|
0.00016
|
NM_133259.4(LRPPRC):c.*2099C>A
|
rs771863074
|
0.00016
|
NM_133259.4(LRPPRC):c.*2192A>G
|
rs189755235
|
0.00016
|
NM_133259.4(LRPPRC):c.*2224A>C
|
rs757205247
|
0.00016
|
NM_133259.4(LRPPRC):c.*456G>C
|
rs886056052
|
0.00016
|
NM_133259.4(LRPPRC):c.1262-12T>C
|
rs149449510
|
0.00016
|
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=)
|
rs559176918
|
0.00016
|
NM_133259.4(LRPPRC):c.1583-14A>G
|
rs372371276
|
0.00016
|
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly)
|
rs567372749
|
0.00016
|
NM_198252.3(GSN):c.754-11C>T
|
rs374057474
|
0.00016
|
NM_000217.3(KCNA1):c.*4422A>T
|
rs923448860
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
|
rs147579870
|
0.00015
|
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114
|
0.00015
|
NM_001127649.3(PEX26):c.*36G>A
|
rs202010734
|
0.00015
|
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly)
|
rs143307183
|
0.00015
|
NM_001365536.1(SCN9A):c.*1417A>G
|
rs201120940
|
0.00015
|
NM_001370658.1(BTD):c.-105C>T
|
rs184480128
|
0.00015
|
NM_001374736.1(DST):c.2950C>T (p.Arg984Trp)
|
rs138162782
|
0.00015
|
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
|
rs775444653
|
0.00015
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)
|
rs149323691
|
0.00015
|
NM_002857.4(PEX19):c.*77del
|
rs771535781
|
0.00015
|
NM_004863.4(SPTLC2):c.*513C>T
|
rs530076018
|
0.00015
|
NM_006096.4(NDRG1):c.*1339C>T
|
rs539924589
|
0.00015
|
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009
|
0.00015
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
NM_016156.6(MTMR2):c.*910T>A
|
rs555290971
|
0.00015
|
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val)
|
rs370515061
|
0.00015
|
NM_021830.5(TWNK):c.-418C>T
|
rs750659283
|
0.00015
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
NM_024577.4(SH3TC2):c.*13418G>T
|
rs544487653
|
0.00015
|
NM_024577.4(SH3TC2):c.*20966T>G
|
rs532239431
|
0.00015
|
NM_024577.4(SH3TC2):c.*2394C>T
|
rs368101139
|
0.00015
|
NM_030962.4(SBF2):c.-128C>T
|
rs886047579
|
0.00015
|
NM_030962.4(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939
|
0.00015
|
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val)
|
rs546399905
|
0.00015
|
NM_181882.3(PRX):c.-20A>C
|
rs780315081
|
0.00015
|
NM_000081.4(LYST):c.7806A>G (p.Gln2602=)
|
rs372754364
|
0.00014
|
NM_000108.5(DLD):c.*739G>A
|
rs181103944
|
0.00014
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
NM_000143.4(FH):c.122C>T (p.Ala41Val)
|
rs201486221
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000158.4(GBE1):c.1803G>A (p.Gln601=)
|
rs368793136
|
0.00014
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
NM_000217.3(KCNA1):c.*3503C>T
|
rs532649581
|
0.00014
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262
|
0.00014
|
NM_000318.3(PEX2):c.*1854A>C
|
rs886063127
|
0.00014
|
NM_000371.3(TTR):c.*234G>C
|
rs542619281
|
0.00014
|
NM_000371.4(TTR):c.-61G>A
|
rs770403822
|
0.00014
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563
|
0.00014
|
NM_001005361.3(DNM2):c.1423-12G>A
|
rs376753915
|
0.00014
|
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223
|
0.00014
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00014
|
NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)
|
rs759739482
|
0.00014
|
NM_001042472.3(ABHD12):c.-118T>C
|
rs886056565
|
0.00014
|
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)
|
rs112329020
|
0.00014
|
NM_001113491.2(SEPTIN9):c.*1292G>A
|
rs747361957
|
0.00014
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val)
|
rs768425084
|
0.00014
|
NM_001130823.3(DNMT1):c.2020-10C>T
|
rs369373339
|
0.00014
|
NM_001351132.2(PEX5):c.-17+71G>A
|
rs927673107
|
0.00014
|
NM_001365536.1(SCN9A):c.*2078C>T
|
rs548072061
|
0.00014
|
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)
|
rs147969494
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479
|
0.00014
|
NM_001386140.1(MTTP):c.*436A>G
|
rs1450371659
|
0.00014
|
NM_001723.7(DST):c.7557G>A (p.Gln2519=)
|
rs368876285
|
0.00014
|
NM_002047.2(GARS1):c.-80C>T
|
rs886062270
|
0.00014
|
NM_002180.3(IGHMBP2):c.*465C>T
|
rs770309885
|
0.00014
|
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=)
|
rs745534850
|
0.00014
|
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys)
|
rs192806153
|
0.00014
|
NM_002617.4(PEX10):c.*627C>T
|
rs886046142
|
0.00014
|
NM_002617.4(PEX10):c.275G>A (p.Arg92His)
|
rs375649043
|
0.00014
|
NM_002618.4(PEX13):c.*813G>C
|
rs781689721
|
0.00014
|
NM_002857.4(PEX19):c.*854G>A
|
rs747191827
|
0.00014
|
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)
|
rs749966284
|
0.00014
|
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)
|
rs140243793
|
0.00014
|
NM_004544.4(NDUFA10):c.*389C>T
|
rs539829771
|
0.00014
|
NM_005006.7(NDUFS1):c.*866A>C
|
rs749790811
|
0.00014
|
NM_006096.4(NDRG1):c.*677C>T
|
rs886062712
|
0.00014
|
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)
|
rs148660796
|
0.00014
|
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile)
|
rs142050639
|
0.00014
|
NM_012073.5(CCT5):c.*1404T>G
|
rs780281527
|
0.00014
|
NM_012073.5(CCT5):c.*1405T>C
|
rs747318041
|
0.00014
|
NM_014365.3(HSPB8):c.-314T>C
|
rs754447057
|
0.00014
|
NM_014874.4(MFN2):c.*1276G>A
|
rs766342161
|
0.00014
|
NM_014874.4(MFN2):c.-161G>A
|
rs140094248
|
0.00014
|
NM_014874.4(MFN2):c.474+4A>G
|
rs141974160
|
0.00014
|
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678
|
0.00014
|
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748
|
0.00014
|
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)
|
rs140058160
|
0.00014
|
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)
|
rs147097934
|
0.00014
|
NM_020247.5(COQ8A):c.1572+7G>A
|
rs371874740
|
0.00014
|
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)
|
rs187886272
|
0.00014
|
NM_021830.5(TWNK):c.*341G>A
|
rs1007423847
|
0.00014
|
NM_024577.4(SH3TC2):c.*1545A>G
|
rs898075581
|
0.00014
|
NM_030962.4(SBF2):c.*608G>C
|
rs776490076
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004
|
0.00014
|
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611
|
0.00014
|
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His)
|
rs141321409
|
0.00014
|
NM_033305.3(VPS13A):c.971A>G (p.His324Arg)
|
rs138568018
|
0.00014
|
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)
|
rs200138144
|
0.00014
|
NM_181882.3(PRX):c.1026A>C (p.Ala342=)
|
rs150772010
|
0.00014
|
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)
|
rs147441856
|
0.00014
|
NM_198252.3(GSN):c.1191+4C>T
|
rs372713895
|
0.00014
|
NM_000081.4(LYST):c.1494A>G (p.Arg498=)
|
rs201412615
|
0.00013
|
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
|
rs201255245
|
0.00013
|
NM_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
NM_000143.4(FH):c.739-10T>C
|
rs201971572
|
0.00013
|
NM_000182.5(HADHA):c.1690-14C>T
|
rs142401180
|
0.00013
|
NM_000217.3(KCNA1):c.*1504G>A
|
rs770664473
|
0.00013
|
NM_000274.4(OAT):c.-4C>G
|
rs372151002
|
0.00013
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
NM_000318.3(PEX2):c.*595C>T
|
rs754113775
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001042472.3(ABHD12):c.*353G>A
|
rs886056563
|
0.00013
|
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)
|
rs149412531
|
0.00013
|
NM_001127649.3(PEX26):c.*1684T>C
|
rs886057255
|
0.00013
|
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=)
|
rs199832007
|
0.00013
|
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)
|
rs146601335
|
0.00013
|
NM_001136472.2(LITAF):c.-6+657C>A
|
rs374282727
|
0.00013
|
NM_001303.4(COX10):c.*591_*592del
|
rs886052606
|
0.00013
|
NM_001303.4(COX10):c.*894G>T
|
rs573080780
|
0.00013
|
NM_001351132.2(PEX5):c.*132C>G
|
rs753013794
|
0.00013
|
NM_001351132.2(PEX5):c.*296C>T
|
rs758323453
|
0.00013
|
NM_001351132.2(PEX5):c.*891A>G
|
rs371691416
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_001365536.1(SCN9A):c.*408A>G
|
rs201291538
|
0.00013
|
NM_001370298.3(FGD4):c.*4756A>G
|
rs763037960
|
0.00013
|
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)
|
rs140220443
|
0.00013
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367
|
0.00013
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519
|
0.00013
|
NM_002180.3(IGHMBP2):c.*860G>A
|
rs149898985
|
0.00013
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
NM_002778.4(PSAP):c.557G>A (p.Arg186His)
|
rs138880818
|
0.00013
|
NM_004082.5(DCTN1):c.*49G>A
|
rs368049781
|
0.00013
|
NM_004082.5(DCTN1):c.3345+13C>T
|
rs376707439
|
0.00013
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_004544.4(NDUFA10):c.*1057T>G
|
rs541016943
|
0.00013
|
NM_004565.3(PEX14):c.381C>T (p.Tyr127=)
|
rs372630614
|
0.00013
|
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys)
|
rs544053792
|
0.00013
|
NM_006096.4(NDRG1):c.*2C>T
|
rs200367524
|
0.00013
|
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
|
rs191237702
|
0.00013
|
NM_006158.5(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919
|
0.00013
|
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
rs758191113
|
0.00013
|
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
|
rs750251152
|
0.00013
|
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val)
|
rs138168151
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
NM_016156.6(MTMR2):c.*133C>G
|
rs367677499
|
0.00013
|
NM_020247.5(COQ8A):c.-75C>T
|
rs886046064
|
0.00013
|
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)
|
rs141423403
|
0.00013
|
NM_020381.4(PDSS2):c.*769G>A
|
rs782037173
|
0.00013
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270
|
0.00013
|
NM_024577.4(SH3TC2):c.*11542G>A
|
rs886060130
|
0.00013
|
NM_024577.4(SH3TC2):c.*15383C>A
|
rs186004627
|
0.00013
|
NM_024577.4(SH3TC2):c.*2500C>A
|
rs559833500
|
0.00013
|
NM_024577.4(SH3TC2):c.*6557T>C
|
rs199797914
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_030962.4(SBF2):c.*1091G>A
|
rs182391972
|
0.00013
|
NM_033305.3(VPS13A):c.*1194A>C
|
rs556413345
|
0.00013
|
NM_033305.3(VPS13A):c.787G>A (p.Val263Met)
|
rs372957084
|
0.00013
|
NM_078470.6(COX15):c.*2857A>G
|
rs576268362
|
0.00013
|
NM_078470.6(COX15):c.131G>A (p.Ser44Asn)
|
rs141506146
|
0.00013
|
NM_078470.6(COX15):c.255T>C (p.Ile85=)
|
rs147881961
|
0.00013
|
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)
|
rs199706677
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_198252.3(GSN):c.1170C>T (p.Asp390=)
|
rs147583697
|
0.00013
|
NM_000081.4(LYST):c.2517T>C (p.Ile839=)
|
rs78172154
|
0.00012
|
NM_000143.4(FH):c.379-15A>T
|
rs374529177
|
0.00012
|
NM_000284.4(PDHA1):c.*707G>A
|
rs150945967
|
0.00012
|
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp)
|
rs368752843
|
0.00012
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307
|
0.00012
|
NM_000318.3(PEX2):c.*2519G>A
|
rs1005895700
|
0.00012
|
NM_000318.3(PEX2):c.*596G>A
|
rs139852334
|
0.00012
|
NM_000370.3(TTPA):c.*1422T>G
|
rs913423928
|
0.00012
|
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln)
|
rs141163645
|
0.00012
|
NM_000487.6(ARSA):c.*625G>A
|
rs778826401
|
0.00012
|
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg)
|
rs139073195
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001127649.3(PEX26):c.*2308A>T
|
rs775281083
|
0.00012
|
NM_001370298.3(FGD4):c.167-61842A>G
|
rs56168193
|
0.00012
|
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp)
|
rs201419873
|
0.00012
|
NM_001386140.1(MTTP):c.*468A>C
|
rs556582995
|
0.00012
|
NM_001605.3(AARS1):c.1671+10C>T
|
rs184240527
|
0.00012
|
NM_001605.3(AARS1):c.2592C>T (p.Ser864=)
|
rs11537665
|
0.00012
|
NM_002618.4(PEX13):c.*1174A>T
|
rs182453488
|
0.00012
|
NM_002618.4(PEX13):c.*1376C>T
|
rs927046080
|
0.00012
|
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)
|
rs143250889
|
0.00012
|
NM_004544.4(NDUFA10):c.*2111G>A
|
rs752139055
|
0.00012
|
NM_004565.3(PEX14):c.*369A>G
|
rs977546775
|
0.00012
|
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=)
|
rs539265514
|
0.00012
|
NM_005006.7(NDUFS1):c.*27C>T
|
rs369746514
|
0.00012
|
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)
|
rs80338765
|
0.00012
|
NM_014845.6(FIG4):c.1271+5A>G
|
rs374583399
|
0.00012
|
NM_014874.4(MFN2):c.*256G>A
|
rs557772799
|
0.00012
|
NM_015046.7(SETX):c.*2016G>A
|
rs752950104
|
0.00012
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_020247.5(COQ8A):c.-113A>G
|
rs886046063
|
0.00012
|
NM_020312.4(COQ9):c.*168A>G
|
rs376172393
|
0.00012
|
NM_020631.6(PLEKHG5):c.2201C>T (p.Ser734Phe)
|
rs554772993
|
0.00012
|
NM_022041.4(GAN):c.*48C>T
|
rs182080874
|
0.00012
|
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)
|
rs147710123
|
0.00012
|
NM_024577.4(SH3TC2):c.*14429T>G
|
rs577465518
|
0.00012
|
NM_024577.4(SH3TC2):c.*14480A>G
|
rs564255234
|
0.00012
|
NM_024577.4(SH3TC2):c.*20400A>C
|
rs1019391321
|
0.00012
|
NM_024577.4(SH3TC2):c.*4182A>G
|
rs886060177
|
0.00012
|
NM_024577.4(SH3TC2):c.*5748G>A
|
rs1038952809
|
0.00012
|
NM_078470.6(COX15):c.*1362G>A
|
rs750145039
|
0.00012
|
NM_181882.3(PRX):c.2229C>T (p.Pro743=)
|
rs144975214
|
0.00012
|
NM_198252.3(GSN):c.*126T>C
|
rs886063411
|
0.00012
|
NM_198252.3(GSN):c.1782G>A (p.Leu594=)
|
rs139239940
|
0.00012
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
NM_000153.4(GALC):c.82G>A (p.Ala28Thr)
|
rs776663863
|
0.00011
|
NM_000158.4(GBE1):c.*226T>C
|
rs748963117
|
0.00011
|
NM_000274.4(OAT):c.*561G>A
|
rs375454907
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_000284.4(PDHA1):c.*1450C>T
|
rs747229060
|
0.00011
|
NM_000286.3(PEX12):c.-138T>C
|
rs543169335
|
0.00011
|
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)
|
rs200283718
|
0.00011
|
NM_000286.3(PEX12):c.793T>C (p.Tyr265His)
|
rs142726996
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000318.3(PEX2):c.*40G>A
|
rs148915806
|
0.00011
|
NM_000384.3(APOB):c.11466G>A (p.Val3822=)
|
rs755842633
|
0.00011
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
|
rs202057449
|
0.00011
|
NM_000487.6(ARSA):c.*1171A>G
|
rs918518184
|
0.00011
|
NM_000487.6(ARSA):c.-88G>A
|
rs562486733
|
0.00011
|
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)
|
rs551548107
|
0.00011
|
NM_000925.3(PDHB):c.-49T>C
|
rs373907802
|
0.00011
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897
|
0.00011
|
NM_001005373.4(LRSAM1):c.751-8C>G
|
rs367823841
|
0.00011
|
NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met)
|
rs374082497
|
0.00011
|
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)
|
rs148302981
|
0.00011
|
NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=)
|
rs200363929
|
0.00011
|
NM_001113491.2(SEPTIN9):c.76+12321C>G
|
rs989073256
|
0.00011
|
NM_001122955.4(BSCL2):c.1234+7G>A
|
rs200631909
|
0.00011
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp)
|
rs150451390
|
0.00011
|
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)
|
rs201774098
|
0.00011
|
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys)
|
rs200024502
|
0.00011
|
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro)
|
rs143287044
|
0.00011
|
NM_001136472.2(LITAF):c.*1853A>G
|
rs759832566
|
0.00011
|
NM_001303.4(COX10):c.*13G>A
|
rs371047487
|
0.00011
|
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met)
|
rs138028549
|
0.00011
|
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)
|
rs751043763
|
0.00011
|
NM_001351132.2(PEX5):c.966+3G>A
|
rs373763823
|
0.00011
|
NM_001365536.1(SCN9A):c.*410A>T
|
rs200153085
|
0.00011
|
NM_001365536.1(SCN9A):c.2875-6A>G
|
rs760470229
|
0.00011
|
NM_001370298.3(FGD4):c.*2192G>A
|
rs568095427
|
0.00011
|
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)
|
rs201915829
|
0.00011
|
NM_001374736.1(DST):c.3375G>A (p.Ala1125=)
|
rs149789667
|
0.00011
|
NM_001374736.1(DST):c.4930-984G>A
|
rs77216326
|
0.00011
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_001605.3(AARS1):c.1509G>A (p.Val503=)
|
rs138406510
|
0.00011
|
NM_001723.7(DST):c.7495C>T (p.Arg2499Trp)
|
rs369328276
|
0.00011
|
NM_001953.5(TYMP):c.*10G>A
|
rs369012029
|
0.00011
|
NM_001953.5(TYMP):c.*3C>T
|
rs372620403
|
0.00011
|
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
|
rs188802138
|
0.00011
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)
|
rs188270548
|
0.00011
|
NM_002529.4(NTRK1):c.279G>A (p.Leu93=)
|
rs147983523
|
0.00011
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
NM_002617.4(PEX10):c.915G>A (p.Ala305=)
|
rs374891812
|
0.00011
|
NM_002618.4(PEX13):c.*2296G>A
|
rs886056208
|
0.00011
|
NM_002618.4(PEX13):c.-7G>A
|
rs200847026
|
0.00011
|
NM_002857.4(PEX19):c.*1013G>A
|
rs747057473
|
0.00011
|
NM_003477.3(PDHX):c.*650G>A
|
rs886048249
|
0.00011
|
NM_003477.3(PDHX):c.*763G>A
|
rs886048250
|
0.00011
|
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)
|
rs765182974
|
0.00011
|
NM_003560.4(PLA2G6):c.*191C>T
|
rs886057499
|
0.00011
|
NM_003680.3(YARS1):c.-437G>A
|
rs537314587
|
0.00011
|
NM_004082.5(DCTN1):c.*251T>G
|
rs756362040
|
0.00011
|
NM_004544.4(NDUFA10):c.*2649G>A
|
rs886055815
|
0.00011
|
NM_004544.4(NDUFA10):c.*3409G>A
|
rs146483651
|
0.00011
|
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu)
|
rs79954820
|
0.00011
|
NM_004637.6(RAB7A):c.552C>T (p.Asn184=)
|
rs143140848
|
0.00011
|
NM_004863.4(SPTLC2):c.*3931G>C
|
rs371265800
|
0.00011
|
NM_004863.4(SPTLC2):c.*4107C>T
|
rs991399387
|
0.00011
|
NM_004863.4(SPTLC2):c.*823G>T
|
rs879635428
|
0.00011
|
NM_005908.4(MANBA):c.*172G>A
|
rs146374185
|
0.00011
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
NM_005908.4(MANBA):c.849+13A>C
|
rs76954465
|
0.00011
|
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=)
|
rs141265918
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_014874.4(MFN2):c.*1153C>T
|
rs542684406
|
0.00011
|
NM_014874.4(MFN2):c.*26G>A
|
rs374800481
|
0.00011
|
NM_014874.4(MFN2):c.*36G>A
|
rs377468070
|
0.00011
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_018319.4(TDP1):c.*1015G>A
|
rs374734859
|
0.00011
|
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp)
|
rs141725364
|
0.00011
|
NM_020247.5(COQ8A):c.*110G>C
|
rs1046215592
|
0.00011
|
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=)
|
rs201865243
|
0.00011
|
NM_020247.5(COQ8A):c.525C>T (p.Ala175=)
|
rs201787750
|
0.00011
|
NM_020631.4(PLEKHG5):c.*1347G>T
|
rs886046486
|
0.00011
|
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys)
|
rs201551894
|
0.00011
|
NM_022041.4(GAN):c.1323T>C (p.Tyr441=)
|
rs368072478
|
0.00011
|
NM_022041.4(GAN):c.944C>T (p.Pro315Leu)
|
rs144486241
|
0.00011
|
NM_022124.6(CDH23):c.*80G>A
|
rs75715348
|
0.00011
|
NM_024577.4(SH3TC2):c.*12088_*12091del
|
rs886060127
|
0.00011
|
NM_024577.4(SH3TC2):c.*19019T>C
|
rs777292025
|
0.00011
|
NM_024577.4(SH3TC2):c.*19989G>A
|
rs560779315
|
0.00011
|
NM_024577.4(SH3TC2):c.*8878T>A
|
rs886060151
|
0.00011
|
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255
|
0.00011
|
NM_033305.3(VPS13A):c.1785+7A>G
|
rs367906505
|
0.00011
|
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser)
|
rs139073067
|
0.00011
|
NM_078470.6(COX15):c.*2839G>T
|
rs1025606598
|
0.00011
|
NM_174889.4(NDUFAF2):c.-63G>T
|
rs886060724
|
0.00011
|
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val)
|
rs749677218
|
0.00011
|
NM_198252.3(GSN):c.2046G>A (p.Thr682=)
|
rs747385746
|
0.00011
|
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=)
|
rs146457386
|
0.00010
|
NM_000081.4(LYST):c.196T>C (p.Leu66=)
|
rs138393416
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000182.5(HADHA):c.*239C>T
|
rs1001518961
|
0.00010
|
NM_000217.3(KCNA1):c.*2554C>T
|
rs768068963
|
0.00010
|
NM_000217.3(KCNA1):c.*5212C>T
|
rs139521962
|
0.00010
|
NM_000217.3(KCNA1):c.*883T>G
|
rs756451969
|
0.00010
|
NM_000217.3(KCNA1):c.*88G>A
|
rs886049513
|
0.00010
|
NM_000286.3(PEX12):c.-147C>T
|
rs559905700
|
0.00010
|
NM_000370.3(TTPA):c.*1368C>G
|
rs553853197
|
0.00010
|
NM_000487.6(ARSA):c.*794C>T
|
rs886057652
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001005361.3(DNM2):c.*14C>T
|
rs369529119
|
0.00010
|
NM_001005373.4(LRSAM1):c.620-3C>T
|
rs373015900
|
0.00010
|
NM_001034850.3(RETREG1):c.723A>G (p.Lys241=)
|
rs746380834
|
0.00010
|
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr)
|
rs199861986
|
0.00010
|
NM_001122955.4(BSCL2):c.*49T>G
|
rs368144792
|
0.00010
|
NM_001122955.4(BSCL2):c.*58G>A
|
rs755714656
|
0.00010
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)
|
rs200300686
|
0.00010
|
NM_001136472.2(LITAF):c.*1054A>C
|
rs967890581
|
0.00010
|
NM_001136472.2(LITAF):c.*598G>A
|
rs367546754
|
0.00010
|
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)
|
rs200215904
|
0.00010
|
NM_001365536.1(SCN9A):c.*3204G>A
|
rs201300071
|
0.00010
|
NM_001365536.1(SCN9A):c.965+13T>C
|
rs772337722
|
0.00010
|
NM_001374736.1(DST):c.4390C>T (p.Arg1464Trp)
|
rs200316560
|
0.00010
|
NM_001374736.1(DST):c.4831-6T>A
|
rs751953259
|
0.00010
|
NM_001374736.1(DST):c.4930-460A>G
|
rs886061641
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234
|
0.00010
|
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_001605.3(AARS1):c.333+3A>C
|
rs747431164
|
0.00010
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730
|
0.00010
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520
|
0.00010
|
NM_002180.3(IGHMBP2):c.*565G>A
|
rs935838633
|
0.00010
|
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=)
|
rs759627672
|
0.00010
|
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)
|
rs145631247
|
0.00010
|
NM_002529.4(NTRK1):c.711G>A (p.Thr237=)
|
rs537430475
|
0.00010
|
NM_002778.4(PSAP):c.*574G>C
|
rs549402343
|
0.00010
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln)
|
rs149337104
|
0.00010
|
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)
|
rs200599704
|
0.00010
|
NM_003630.3(PEX3):c.*1332A>G
|
rs886061138
|
0.00010
|
NM_003630.3(PEX3):c.249A>G (p.Gln83=)
|
rs139760270
|
0.00010
|
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg)
|
rs143800457
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile)
|
rs368273709
|
0.00010
|
NM_004168.4(SDHA):c.*189C>T
|
rs185107377
|
0.00010
|
NM_004376.5(COX15):c.*3411G>C
|
rs914156906
|
0.00010
|
NM_004813.4(PEX16):c.*557G>C
|
rs770223341
|
0.00010
|
NM_004863.4(SPTLC2):c.*2186A>G
|
rs377018367
|
0.00010
|
NM_004863.4(SPTLC2):c.*3315C>G
|
rs886050839
|
0.00010
|
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=)
|
rs773905221
|
0.00010
|
NM_006096.4(NDRG1):c.-8G>A
|
rs200465804
|
0.00010
|
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)
|
rs745520295
|
0.00010
|
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073
|
0.00010
|
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His)
|
rs768582587
|
0.00010
|
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr)
|
rs143216424
|
0.00010
|
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys)
|
rs141400889
|
0.00010
|
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu)
|
rs773314762
|
0.00010
|
NM_014874.4(MFN2):c.*1706T>G
|
rs543365043
|
0.00010
|
NM_014874.4(MFN2):c.*813G>A
|
rs771869272
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)
|
rs767453182
|
0.00010
|
NM_018319.4(TDP1):c.*801G>A
|
rs1017363264
|
0.00010
|
NM_018319.4(TDP1):c.19T>C (p.Tyr7His)
|
rs754747710
|
0.00010
|
NM_020312.3(COQ9):c.-37C>G
|
rs886052178
|
0.00010
|
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=)
|
rs184541137
|
0.00010
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00010
|
NM_022041.4(GAN):c.*551C>T
|
rs886052341
|
0.00010
|
NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys)
|
rs147864771
|
0.00010
|
NM_022041.4(GAN):c.1630G>A (p.Val544Met)
|
rs200071978
|
0.00010
|
NM_024577.4(SH3TC2):c.*10875T>C
|
rs184560843
|
0.00010
|
NM_024577.4(SH3TC2):c.*15824G>A
|
rs530880070
|
0.00010
|
NM_024577.4(SH3TC2):c.*19631T>A
|
rs961541157
|
0.00010
|
NM_024577.4(SH3TC2):c.*20362T>C
|
rs571268825
|
0.00010
|
NM_024577.4(SH3TC2):c.*5740C>T
|
rs886060167
|
0.00010
|
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
NM_033305.3(VPS13A):c.*474G>A
|
rs531360785
|
0.00010
|
NM_033305.3(VPS13A):c.-158G>C
|
rs1057515644
|
0.00010
|
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=)
|
rs372019796
|
0.00010
|
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met)
|
rs151129933
|
0.00010
|
NM_133259.4(LRPPRC):c.3901-6T>G
|
rs553466522
|
0.00010
|
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val)
|
rs749629864
|
0.00010
|
NM_181882.3(PRX):c.1836C>T (p.Ala612=)
|
rs574899855
|
0.00010
|
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)
|
rs764162630
|
0.00010
|
NM_198252.3(GSN):c.*205G>A
|
rs779431879
|
0.00010
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
NM_000143.4(FH):c.*102T>C
|
rs200093224
|
0.00009
|
NM_000166.6(GJB1):c.*402G>A
|
rs753223616
|
0.00009
|
NM_000182.5(HADHA):c.1284C>T (p.Asn428=)
|
rs199535840
|
0.00009
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000318.3(PEX2):c.*1755A>G
|
rs886063129
|
0.00009
|
NM_000318.3(PEX2):c.*2973T>C
|
rs751974703
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)
|
rs373477107
|
0.00009
|
NM_000399.5(EGR2):c.*618T>C
|
rs748486219
|
0.00009
|
NM_000487.6(ARSA):c.*1987G>A
|
rs886057643
|
0.00009
|
NM_000520.5(HEXA):c.-141G>A
|
rs886051462
|
0.00009
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000521.3(HEXB):c.-52C>A
|
rs886060748
|
0.00009
|
NM_001005361.3(DNM2):c.*391C>T
|
rs886054147
|
0.00009
|
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_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005373.4(LRSAM1):c.*588T>A
|
rs886063461
|
0.00009
|
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)
|
rs373570877
|
0.00009
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=)
|
rs199997686
|
0.00009
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=)
|
rs147205387
|
0.00009
|
NM_001042472.3(ABHD12):c.-82_-76del
|
rs886056564
|
0.00009
|
NM_001042472.3(ABHD12):c.453C>T (p.Asn151=)
|
rs375299452
|
0.00009
|
NM_001130823.3(DNMT1):c.*274T>C
|
rs886054125
|
0.00009
|
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met)
|
rs148038464
|
0.00009
|
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=)
|
rs764496230
|
0.00009
|
NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro)
|
rs201319352
|
0.00009
|
NM_001136472.2(LITAF):c.*1632C>G
|
rs74808365
|
0.00009
|
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)
|
rs759334733
|
0.00009
|
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)
|
rs371233272
|
0.00009
|
NM_001365536.1(SCN9A):c.*887T>C
|
rs200611007
|
0.00009
|
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser)
|
rs187526567
|
0.00009
|
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)
|
rs79805025
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001370298.3(FGD4):c.1543+13T>C
|
rs762177862
|
0.00009
|
NM_001374736.1(DST):c.2719C>T (p.Arg907Trp)
|
rs775464446
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)
|
rs756998920
|
0.00009
|
NM_001953.5(TYMP):c.859G>A (p.Val287Met)
|
rs781064742
|
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_002180.3(IGHMBP2):c.*417C>A
|
rs117542830
|
0.00009
|
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn)
|
rs139635469
|
0.00009
|
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser)
|
rs761942658
|
0.00009
|
NM_002618.4(PEX13):c.*1005C>A
|
rs375607663
|
0.00009
|
NM_002618.4(PEX13):c.*2229C>T
|
rs1048932355
|
0.00009
|
NM_002618.4(PEX13):c.*851A>G
|
rs917019488
|
0.00009
|
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)
|
rs202077756
|
0.00009
|
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)
|
rs140066253
|
0.00009
|
NM_002778.4(PSAP):c.577-10T>C
|
rs185892516
|
0.00009
|
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)
|
rs200008050
|
0.00009
|
NM_003477.2(PDHX):c.-354C>T
|
rs761199870
|
0.00009
|
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)
|
rs146456454
|
0.00009
|
NM_003560.4(PLA2G6):c.1742+12C>T
|
rs11570739
|
0.00009
|
NM_003680.4(YARS1):c.*680A>G
|
rs536402126
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004376.5(COX15):c.*2742A>G
|
rs188328622
|
0.00009
|
NM_004544.4(NDUFA10):c.*3067C>T
|
rs564992184
|
0.00009
|
NM_004544.4(NDUFA10):c.*765C>T
|
rs144208727
|
0.00009
|
NM_004565.3(PEX14):c.488-14C>T
|
rs200684088
|
0.00009
|
NM_004565.3(PEX14):c.766G>A (p.Val256Met)
|
rs143378690
|
0.00009
|
NM_004637.6(RAB7A):c.*1142G>A
|
rs747470481
|
0.00009
|
NM_004637.6(RAB7A):c.*989C>G
|
rs1039323764
|
0.00009
|
NM_004637.6(RAB7A):c.-115C>T
|
rs374777610
|
0.00009
|
NM_004813.4(PEX16):c.946G>A (p.Val316Ile)
|
rs775371916
|
0.00009
|
NM_004863.4(SPTLC2):c.*4755C>T
|
rs548820679
|
0.00009
|
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)
|
rs138887128
|
0.00009
|
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)
|
rs773111037
|
0.00009
|
NM_006096.4(NDRG1):c.*1299C>T
|
rs926267815
|
0.00009
|
NM_006096.4(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752
|
0.00009
|
NM_006308.3(HSPB3):c.-67C>T
|
rs913988211
|
0.00009
|
NM_006329.4(FBLN5):c.*98G>A
|
rs568348723
|
0.00009
|
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)
|
rs372047256
|
0.00009
|
NM_014317.5(PDSS1):c.*47A>G
|
rs200899328
|
0.00009
|
NM_014365.3(HSPB8):c.*123G>A
|
rs987225344
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_014845.6(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249
|
0.00009
|
NM_018319.4(TDP1):c.*776T>C
|
rs761481355
|
0.00009
|
NM_018319.4(TDP1):c.15C>T (p.Gly5=)
|
rs779666160
|
0.00009
|
NM_018972.4(GDAP1):c.*1183G>A
|
rs756257305
|
0.00009
|
NM_018972.4(GDAP1):c.*618C>T
|
rs886063106
|
0.00009
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
NM_020631.5(PLEKHG5):c.*801G>A
|
rs886046491
|
0.00009
|
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)
|
rs142378760
|
0.00009
|
NM_021830.5(TWNK):c.-470G>A
|
rs886046626
|
0.00009
|
NM_022041.4(GAN):c.1199C>G (p.Thr400Ser)
|
rs368571975
|
0.00009
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_024577.4(SH3TC2):c.*10132A>G
|
rs886060138
|
0.00009
|
NM_024577.4(SH3TC2):c.*10863C>T
|
rs181346624
|
0.00009
|
NM_024577.4(SH3TC2):c.*14985A>G
|
rs886060116
|
0.00009
|
NM_024577.4(SH3TC2):c.*16261C>T
|
rs150690882
|
0.00009
|
NM_024577.4(SH3TC2):c.*16590A>G
|
rs564063667
|
0.00009
|
NM_024577.4(SH3TC2):c.*20412A>T
|
rs774453230
|
0.00009
|
NM_024577.4(SH3TC2):c.*21395T>C
|
rs886060094
|
0.00009
|
NM_024577.4(SH3TC2):c.*22034C>T
|
rs886060093
|
0.00009
|
NM_024577.4(SH3TC2):c.*22199C>T
|
rs778637809
|
0.00009
|
NM_024577.4(SH3TC2):c.*8217A>G
|
rs768467653
|
0.00009
|
NM_024577.4(SH3TC2):c.*9026A>T
|
rs1000086928
|
0.00009
|
NM_024577.4(SH3TC2):c.*9034A>G
|
rs750855366
|
0.00009
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
NM_024577.4(SH3TC2):c.280-5C>T
|
rs201937366
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_030962.4(SBF2):c.*78G>C
|
rs184117822
|
0.00009
|
NM_030962.4(SBF2):c.1296+13T>C
|
rs376685939
|
0.00009
|
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys)
|
rs146265794
|
0.00009
|
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
NM_133259.4(LRPPRC):c.*1894C>T
|
rs563480210
|
0.00009
|
NM_133259.4(LRPPRC):c.*2245A>G
|
rs758080975
|
0.00009
|
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)
|
rs760016065
|
0.00009
|
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr)
|
rs142097048
|
0.00009
|
NM_170707.4(LMNA):c.-138T>C
|
rs886045359
|
0.00009
|
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
|
rs140880177
|
0.00009
|
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp)
|
rs753339248
|
0.00009
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
NM_000153.4(GALC):c.*405A>G
|
rs143839879
|
0.00008
|
NM_000182.5(HADHA):c.*110G>A
|
rs952439873
|
0.00008
|
NM_000217.3(KCNA1):c.*3862C>T
|
rs746524947
|
0.00008
|
NM_000286.3(PEX12):c.*38C>T
|
rs756694664
|
0.00008
|
NM_000304.4(PMP22):c.*544C>T
|
rs1329536994
|
0.00008
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610
|
0.00008
|
NM_000318.3(PEX2):c.*627G>T
|
rs145960090
|
0.00008
|
NM_000371.4(TTR):c.*143G>C
|
rs545271394
|
0.00008
|
NM_000384.3(APOB):c.2160C>T (p.Tyr720=)
|
rs756184175
|
0.00008
|
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)
|
rs200623857
|
0.00008
|
NM_000384.3(APOB):c.6656G>A (p.Arg2219His)
|
rs200106845
|
0.00008
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
NM_000487.6(ARSA):c.728G>A (p.Arg243His)
|
rs142142638
|
0.00008
|
NM_001005373.4(LRSAM1):c.*370C>T
|
rs370358510
|
0.00008
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001130823.3(DNMT1):c.*29G>A
|
rs749247799
|
0.00008
|
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)
|
rs200240989
|
0.00008
|
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)
|
rs371407163
|
0.00008
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706
|
0.00008
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
NM_001953.5(TYMP):c.1137G>A (p.Glu379=)
|
rs764142194
|
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_002180.3(IGHMBP2):c.*666G>A
|
rs576058010
|
0.00008
|
NM_002180.3(IGHMBP2):c.1236-10C>T
|
rs778515935
|
0.00008
|
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)
|
rs200566598
|
0.00008
|
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His)
|
rs754452975
|
0.00008
|
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)
|
rs201503610
|
0.00008
|
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)
|
rs749660716
|
0.00008
|
NM_002857.4(PEX19):c.*1145C>T
|
rs75916849
|
0.00008
|
NM_002857.4(PEX19):c.*1163T>C
|
rs575199724
|
0.00008
|
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg)
|
rs201822068
|
0.00008
|
NM_003477.2(PDHX):c.-162C>A
|
rs759318998
|
0.00008
|
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)
|
rs150572286
|
0.00008
|
NM_003560.4(PLA2G6):c.895-11G>A
|
rs371094406
|
0.00008
|
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)
|
rs746453879
|
0.00008
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
NM_004376.6(COX15):c.-133T>C
|
rs566424487
|
0.00008
|
NM_004544.4(NDUFA10):c.*1214C>T
|
rs546735567
|
0.00008
|
NM_004544.4(NDUFA10):c.*2900G>A
|
rs752124492
|
0.00008
|
NM_004551.2(NDUFS3):c.-30C>T
|
rs375483884
|
0.00008
|
NM_004589.4(SCO1):c.411G>A (p.Gly137=)
|
rs371690301
|
0.00008
|
NM_004589.4(SCO1):c.787A>G (p.Ile263Val)
|
rs111708860
|
0.00008
|
NM_004863.4(SPTLC2):c.*542T>C
|
rs758359564
|
0.00008
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
NM_006158.5(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413
|
0.00008
|
NM_006329.4(FBLN5):c.*426C>T
|
rs553193064
|
0.00008
|
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=)
|
rs560780691
|
0.00008
|
NM_012073.5(CCT5):c.*1239C>G
|
rs886059759
|
0.00008
|
NM_012073.5(CCT5):c.*205T>C
|
rs533788803
|
0.00008
|
NM_012073.5(CCT5):c.*5A>C
|
rs533404395
|
0.00008
|
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys)
|
rs572671693
|
0.00008
|
NM_014845.6(FIG4):c.-112G>A
|
rs757848529
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_015046.7(SETX):c.1221A>G (p.Thr407=)
|
rs377618570
|
0.00008
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_018319.4(TDP1):c.-8+15T>C
|
rs767166629
|
0.00008
|
NM_020247.5(COQ8A):c.*570T>C
|
rs778729725
|
0.00008
|
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=)
|
rs369876443
|
0.00008
|
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln)
|
rs761000380
|
0.00008
|
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889
|
0.00008
|
NM_024577.4(SH3TC2):c.*22208T>C
|
rs756451967
|
0.00008
|
NM_024577.4(SH3TC2):c.*2982T>C
|
rs886060180
|
0.00008
|
NM_024577.4(SH3TC2):c.*3903A>G
|
rs750071171
|
0.00008
|
NM_024577.4(SH3TC2):c.*4576G>T
|
rs996951340
|
0.00008
|
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)
|
rs569974719
|
0.00008
|
NM_030962.4(SBF2):c.5231+14C>T
|
rs371184526
|
0.00008
|
NM_030962.4(SBF2):c.946C>T (p.Leu316=)
|
rs374841593
|
0.00008
|
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val)
|
rs143067406
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)
|
rs200755494
|
0.00008
|
NM_078470.6(COX15):c.665G>A (p.Arg222His)
|
rs377568460
|
0.00008
|
NM_133259.4(LRPPRC):c.*996A>G
|
rs572718388
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)
|
rs142064826
|
0.00008
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr)
|
rs368459753
|
0.00008
|
NM_000081.4(LYST):c.3931A>G (p.Met1311Val)
|
rs376718077
|
0.00007
|
NM_000108.5(DLD):c.*1505C>T
|
rs1053262850
|
0.00007
|
NM_000143.4(FH):c.*211G>C
|
rs1385240800
|
0.00007
|
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983
|
0.00007
|
NM_000217.3(KCNA1):c.*829A>G
|
rs777685914
|
0.00007
|
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)
|
rs193253559
|
0.00007
|
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)
|
rs199874465
|
0.00007
|
NM_000466.3(PEX1):c.*428A>G
|
rs769772779
|
0.00007
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val)
|
rs540762357
|
0.00007
|
NM_000530.8(MPZ):c.*1020G>A
|
rs886045472
|
0.00007
|
NM_000530.8(MPZ):c.*102C>T
|
rs774748921
|
0.00007
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296
|
0.00007
|
NM_001042472.3(ABHD12):c.543-13T>C
|
rs575339393
|
0.00007
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
NM_001113491.2(SEPTIN9):c.*718C>G
|
rs370900865
|
0.00007
|
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu)
|
rs774560543
|
0.00007
|
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=)
|
rs367637414
|
0.00007
|
NM_001365536.1(SCN9A):c.*1383G>T
|
rs896976419
|
0.00007
|
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)
|
rs202235611
|
0.00007
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_001370298.3(FGD4):c.*1356T>G
|
rs886049262
|
0.00007
|
NM_001370298.3(FGD4):c.*4977G>C
|
rs575914495
|
0.00007
|
NM_001370298.3(FGD4):c.167-62000T>C
|
rs886049252
|
0.00007
|
NM_001370658.1(BTD):c.-65G>T
|
rs199516128
|
0.00007
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001540.5(HSPB1):c.*116C>T
|
rs368381742
|
0.00007
|
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
rs140791936
|
0.00007
|
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)
|
rs529095936
|
0.00007
|
NM_001723.7(DST):c.4397A>G (p.Lys1466Arg)
|
rs144279221
|
0.00007
|
NM_001953.5(TYMP):c.-84T>C
|
rs560027665
|
0.00007
|
NM_001953.5(TYMP):c.517-15G>A
|
rs372690172
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002180.3(IGHMBP2):c.*754G>A
|
rs374679092
|
0.00007
|
NM_002496.4(NDUFS8):c.502-10C>T
|
rs369961682
|
0.00007
|
NM_002529.4(NTRK1):c.585G>A (p.Thr195=)
|
rs182531655
|
0.00007
|
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp)
|
rs202030811
|
0.00007
|
NM_002617.4(PEX10):c.*732G>A
|
rs886046140
|
0.00007
|
NM_002617.4(PEX10):c.*835C>T
|
rs886046136
|
0.00007
|
NM_002857.4(PEX19):c.*1745T>C
|
rs186821837
|
0.00007
|
NM_002857.4(PEX19):c.*1852C>G
|
rs370387085
|
0.00007
|
NM_003172.4(SURF1):c.321C>T (p.Ala107=)
|
rs141425824
|
0.00007
|
NM_003477.2(PDHX):c.-155G>A
|
rs886048246
|
0.00007
|
NM_003477.3(PDHX):c.*259G>T
|
rs771515806
|
0.00007
|
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)
|
rs373930150
|
0.00007
|
NM_003630.3(PEX3):c.*424T>C
|
rs189379544
|
0.00007
|
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg)
|
rs199781957
|
0.00007
|
NM_003680.4(YARS1):c.*399G>A
|
rs890588915
|
0.00007
|
NM_003680.4(YARS1):c.1275C>T (p.Asn425=)
|
rs778718842
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004544.4(NDUFA10):c.*1486C>T
|
rs746931112
|
0.00007
|
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)
|
rs3740654
|
0.00007
|
NM_004589.4(SCO1):c.689C>T (p.Thr230Met)
|
rs141066877
|
0.00007
|
NM_004637.6(RAB7A):c.*165A>T
|
rs886057942
|
0.00007
|
NM_004813.4(PEX16):c.360-7G>A
|
rs202161790
|
0.00007
|
NM_004863.4(SPTLC2):c.*419C>T
|
rs897879528
|
0.00007
|
NM_004863.4(SPTLC2):c.*838G>A
|
rs760436119
|
0.00007
|
NM_006096.4(NDRG1):c.*402C>T
|
rs551081194
|
0.00007
|
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970
|
0.00007
|
NM_006308.3(HSPB3):c.*10G>A
|
rs200960902
|
0.00007
|
NM_006329.4(FBLN5):c.-413C>T
|
rs886050892
|
0.00007
|
NM_012073.5(CCT5):c.-48C>T
|
rs574425461
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)
|
rs141163823
|
0.00007
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys)
|
rs144245744
|
0.00007
|
NM_020631.6(PLEKHG5):c.439+12C>G
|
rs778853521
|
0.00007
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932
|
0.00007
|
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)
|
rs757488156
|
0.00007
|
NM_024577.4(SH3TC2):c.*11621G>A
|
rs886060128
|
0.00007
|
NM_024577.4(SH3TC2):c.*15062G>A
|
rs886060115
|
0.00007
|
NM_024577.4(SH3TC2):c.*2118G>A
|
rs115163989
|
0.00007
|
NM_024577.4(SH3TC2):c.*4446G>C
|
rs186152591
|
0.00007
|
NM_024577.4(SH3TC2):c.*4947G>A
|
rs1012023269
|
0.00007
|
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
|
rs78346510
|
0.00007
|
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro)
|
rs148227344
|
0.00007
|
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=)
|
rs189138644
|
0.00007
|
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser)
|
rs371055567
|
0.00007
|
NM_078470.6(COX15):c.*3670G>A
|
rs886046600
|
0.00007
|
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)
|
rs775605330
|
0.00007
|
NM_181882.3(PRX):c.4157C>A (p.Pro1386His)
|
rs372582520
|
0.00007
|
NM_181882.3(PRX):c.922A>G (p.Thr308Ala)
|
rs753330520
|
0.00007
|
NM_198252.3(GSN):c.126C>T (p.Asp42=)
|
rs200027070
|
0.00007
|
NM_198252.3(GSN):c.547C>T (p.Arg183Trp)
|
rs371175865
|
0.00007
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
NM_000081.4(LYST):c.3834G>A (p.Leu1278=)
|
rs148542548
|
0.00006
|
NM_000081.4(LYST):c.5635-4A>G
|
rs754201076
|
0.00006
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
|
rs140229368
|
0.00006
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00006
|
NM_000153.4(GALC):c.*1458T>C
|
rs757918900
|
0.00006
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
|
rs755139799
|
0.00006
|
NM_000158.4(GBE1):c.*460C>T
|
rs771301034
|
0.00006
|
NM_000158.4(GBE1):c.*558T>C
|
rs886058899
|
0.00006
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
NM_000182.5(HADHA):c.*403C>T
|
rs146210168
|
0.00006
|
NM_000217.3(KCNA1):c.*3142A>G
|
rs923945668
|
0.00006
|
NM_000274.4(OAT):c.*35C>T
|
rs750628344
|
0.00006
|
NM_000284.4(PDHA1):c.*1347C>T
|
rs1241045421
|
0.00006
|
NM_000286.3(PEX12):c.*519A>G
|
rs886052827
|
0.00006
|
NM_000286.3(PEX12):c.*569T>A
|
rs541598688
|
0.00006
|
NM_000286.3(PEX12):c.-108A>G
|
rs886052831
|
0.00006
|
NM_000286.3(PEX12):c.-358G>T
|
rs565433352
|
0.00006
|
NM_000288.4(PEX7):c.*115A>G
|
rs41288967
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000304.4(PMP22):c.*26T>C
|
rs200563670
|
0.00006
|
NM_000304.4(PMP22):c.*890C>T
|
rs546778557
|
0.00006
|
NM_000318.3(PEX2):c.*1370A>G
|
rs886063131
|
0.00006
|
NM_000318.3(PEX2):c.*1561G>A
|
rs886063130
|
0.00006
|
NM_000318.3(PEX2):c.*489C>T
|
rs886063136
|
0.00006
|
NM_000370.3(TTPA):c.*934C>T
|
rs776683493
|
0.00006
|
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435
|
0.00006
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)
|
rs201016626
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000466.3(PEX1):c.2927-12T>A
|
rs375062546
|
0.00006
|
NM_000487.6(ARSA):c.225-5C>T
|
rs192013394
|
0.00006
|
NM_000487.6(ARSA):c.918G>A (p.Thr306=)
|
rs370250328
|
0.00006
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_000925.4(PDHB):c.*173C>T
|
rs546485141
|
0.00006
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
NM_001005361.3(DNM2):c.*373G>A
|
rs906210543
|
0.00006
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103
|
0.00006
|
NM_001005361.3(DNM2):c.450A>G (p.Pro150=)
|
rs766121627
|
0.00006
|
NM_001005373.4(LRSAM1):c.*238G>A
|
rs886063459
|
0.00006
|
NM_001034850.3(RETREG1):c.*1235T>C
|
rs372275936
|
0.00006
|
NM_001034850.3(RETREG1):c.*757G>A
|
rs3804255
|
0.00006
|
NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys)
|
rs368759467
|
0.00006
|
NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser)
|
rs186440319
|
0.00006
|
NM_001113491.2(SEPTIN9):c.*1724G>A
|
rs886053498
|
0.00006
|
NM_001113491.2(SEPTIN9):c.*959G>A
|
rs911601031
|
0.00006
|
NM_001113491.2(SEPTIN9):c.76+12716G>A
|
rs1376331809
|
0.00006
|
NM_001127649.3(PEX26):c.*122A>C
|
rs753279674
|
0.00006
|
NM_001127649.3(PEX26):c.*2479G>A
|
rs537299090
|
0.00006
|
NM_001127649.3(PEX26):c.*566T>C
|
rs541332240
|
0.00006
|
NM_001130823.3(DNMT1):c.*211G>C
|
rs772999851
|
0.00006
|
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr)
|
rs529074384
|
0.00006
|
NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=)
|
rs144567470
|
0.00006
|
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys)
|
rs201308454
|
0.00006
|
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=)
|
rs147755768
|
0.00006
|
NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=)
|
rs145657360
|
0.00006
|
NM_001136472.2(LITAF):c.*1879A>G
|
rs760630375
|
0.00006
|
NM_001136472.2(LITAF):c.147G>A (p.Thr49=)
|
rs145659732
|
0.00006
|
NM_001136472.2(LITAF):c.310G>A (p.Val104Met)
|
rs373445989
|
0.00006
|
NM_001195248.2(APTX):c.*605G>A
|
rs545625482
|
0.00006
|
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)
|
rs117041645
|
0.00006
|
NM_001303.4(COX10):c.-24G>A
|
rs201257809
|
0.00006
|
NM_001303.4(COX10):c.260C>T (p.Thr87Ile)
|
rs144000161
|
0.00006
|
NM_001351132.2(PEX5):c.*722G>A
|
rs886049831
|
0.00006
|
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)
|
rs370306007
|
0.00006
|
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr)
|
rs143600154
|
0.00006
|
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)
|
rs145886418
|
0.00006
|
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala)
|
rs200475014
|
0.00006
|
NM_001365536.1(SCN9A):c.*3053G>A
|
rs199656729
|
0.00006
|
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)
|
rs41268671
|
0.00006
|
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg)
|
rs267607030
|
0.00006
|
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)
|
rs201875421
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_001370298.3(FGD4):c.*2648G>A
|
rs1041987634
|
0.00006
|
NM_001370298.3(FGD4):c.*3940G>A
|
rs549337235
|
0.00006
|
NM_001370298.3(FGD4):c.*5321G>A
|
rs1013226199
|
0.00006
|
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)
|
rs770633850
|
0.00006
|
NM_001374736.1(DST):c.1779-350C>T
|
rs182565183
|
0.00006
|
NM_001374736.1(DST):c.4930-620A>C
|
rs886061642
|
0.00006
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
NM_001386140.1(MTTP):c.*1118C>T
|
rs144013236
|
0.00006
|
NM_001386140.1(MTTP):c.393+11G>A
|
rs367982075
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00006
|
NM_001723.7(DST):c.3715C>T (p.Arg1239Cys)
|
rs371231287
|
0.00006
|
NM_001723.7(DST):c.3956C>A (p.Ala1319Glu)
|
rs142302277
|
0.00006
|
NM_001723.7(DST):c.3957A>C (p.Ala1319=)
|
rs543767625
|
0.00006
|
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly)
|
rs146922557
|
0.00006
|
NM_001953.5(TYMP):c.646+8G>A
|
rs200818286
|
0.00006
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802
|
0.00006
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144
|
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_002180.3(IGHMBP2):c.2139C>T (p.Asn713=)
|
rs199879444
|
0.00006
|
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=)
|
rs149684358
|
0.00006
|
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407
|
0.00006
|
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His)
|
rs368584364
|
0.00006
|
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)
|
rs1804688
|
0.00006
|
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)
|
rs578145610
|
0.00006
|
NM_002506.3(NGF):c.335C>G (p.Pro112Arg)
|
rs147763877
|
0.00006
|
NM_002506.3(NGF):c.552C>T (p.Pro184=)
|
rs532714783
|
0.00006
|
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=)
|
rs200575096
|
0.00006
|
NM_002529.4(NTRK1):c.575-15G>A
|
rs762788551
|
0.00006
|
NM_002529.4(NTRK1):c.850+11G>A
|
rs372293237
|
0.00006
|
NM_002617.4(PEX10):c.*594C>T
|
rs760677467
|
0.00006
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile)
|
rs199683357
|
0.00006
|
NM_002778.4(PSAP):c.*1008C>T
|
rs537171961
|
0.00006
|
NM_002778.4(PSAP):c.*276G>A
|
rs547409137
|
0.00006
|
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)
|
rs377024801
|
0.00006
|
NM_002778.4(PSAP):c.249+6C>T
|
rs774663731
|
0.00006
|
NM_002857.4(PEX19):c.*1761C>A
|
rs761868324
|
0.00006
|
NM_002857.4(PEX19):c.*2068T>C
|
rs536872409
|
0.00006
|
NM_002857.4(PEX19):c.*427A>G
|
rs886045447
|
0.00006
|
NM_002857.4(PEX19):c.347-7C>T
|
rs753523567
|
0.00006
|
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp)
|
rs201492662
|
0.00006
|
NM_003477.2(PDHX):c.-342A>G
|
rs567329509
|
0.00006
|
NM_003560.4(PLA2G6):c.-129C>T
|
rs886057504
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_003680.4(YARS1):c.*369G>A
|
rs879511403
|
0.00006
|
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151
|
0.00006
|
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)
|
rs764443534
|
0.00006
|
NM_004168.4(SDHA):c.*102G>A
|
rs1009017730
|
0.00006
|
NM_004376.5(COX15):c.*3470G>C
|
rs988381164
|
0.00006
|
NM_004376.6(COX15):c.-586C>T
|
rs186438310
|
0.00006
|
NM_004544.4(NDUFA10):c.*3205G>A
|
rs886055811
|
0.00006
|
NM_004544.4(NDUFA10):c.*361A>G
|
rs778261754
|
0.00006
|
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)
|
rs117981655
|
0.00006
|
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser)
|
rs368907187
|
0.00006
|
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)
|
rs201979629
|
0.00006
|
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala)
|
rs199525137
|
0.00006
|
NM_004565.3(PEX14):c.911A>T (p.Asp304Val)
|
rs199860518
|
0.00006
|
NM_004589.3(SCO1):c.-49C>T
|
rs778522503
|
0.00006
|
NM_004589.4(SCO1):c.*594A>G
|
rs183020275
|
0.00006
|
NM_004589.4(SCO1):c.15C>T (p.Val5=)
|
rs780334801
|
0.00006
|
NM_004637.6(RAB7A):c.*1029A>G
|
rs776759455
|
0.00006
|
NM_004637.6(RAB7A):c.*1141C>T
|
rs192329045
|
0.00006
|
NM_004813.4(PEX16):c.*341C>T
|
rs559300237
|
0.00006
|
NM_004813.4(PEX16):c.*53C>G
|
rs369974509
|
0.00006
|
NM_004863.4(SPTLC2):c.*100G>A
|
rs535135686
|
0.00006
|
NM_004863.4(SPTLC2):c.*1153T>A
|
rs749346501
|
0.00006
|
NM_004863.4(SPTLC2):c.*2622A>C
|
rs762906175
|
0.00006
|
NM_004863.4(SPTLC2):c.*3785G>C
|
rs996810849
|
0.00006
|
NM_004863.4(SPTLC2):c.*4948A>C
|
rs886050832
|
0.00006
|
NM_004863.4(SPTLC2):c.*5852A>G
|
rs753761374
|
0.00006
|
NM_004863.4(SPTLC2):c.-37C>T
|
rs762618185
|
0.00006
|
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)
|
rs769276632
|
0.00006
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
NM_006158.5(NEFL):c.*1101G>A
|
rs527471303
|
0.00006
|
NM_006415.4(SPTLC1):c.*1093G>A
|
rs1057515685
|
0.00006
|
NM_006415.4(SPTLC1):c.1254+10C>T
|
rs200704785
|
0.00006
|
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu)
|
rs372208500
|
0.00006
|
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr)
|
rs376958800
|
0.00006
|
NM_012073.5(CCT5):c.*1257A>G
|
rs572016113
|
0.00006
|
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp)
|
rs143444882
|
0.00006
|
NM_014365.2(HSPB8):c.-419A>T
|
rs1011802078
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_014874.3(MFN2):c.-468G>A
|
rs973376897
|
0.00006
|
NM_015046.7(SETX):c.*1523A>G
|
rs758582946
|
0.00006
|
NM_015046.7(SETX):c.*1534G>A
|
rs886063548
|
0.00006
|
NM_015046.7(SETX):c.*2610T>G
|
rs530469492
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)
|
rs148375192
|
0.00006
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
NM_015046.7(SETX):c.768G>T (p.Leu256=)
|
rs759468738
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)
|
rs200285624
|
0.00006
|
NM_018319.4(TDP1):c.*904C>T
|
rs886050884
|
0.00006
|
NM_018319.4(TDP1):c.789C>T (p.His263=)
|
rs562317662
|
0.00006
|
NM_018972.2(GDAP1):c.*2675C>T
|
rs957273627
|
0.00006
|
NM_018972.4(GDAP1):c.*1905A>G
|
rs185710169
|
0.00006
|
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
|
rs112786851
|
0.00006
|
NM_018979.4(WNK1):c.2652G>A (p.Ala884=)
|
rs142528714
|
0.00006
|
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)
|
rs201995891
|
0.00006
|
NM_020631.4(PLEKHG5):c.*1332C>A
|
rs538419041
|
0.00006
|
NM_020631.4(PLEKHG5):c.*1333C>T
|
rs1157083758
|
0.00006
|
NM_020631.6(PLEKHG5):c.*304C>T
|
rs549168459
|
0.00006
|
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp)
|
rs764053619
|
0.00006
|
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=)
|
rs370572859
|
0.00006
|
NM_021625.5(TRPV4):c.*405G>A
|
rs886048937
|
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.2605G>A (p.Ala869Thr)
|
rs138396764
|
0.00006
|
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
NM_021830.5(TWNK):c.-644A>T
|
rs886046623
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_022041.4(GAN):c.*1839G>A
|
rs375907932
|
0.00006
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00006
|
NM_024577.4(SH3TC2):c.*11357G>A
|
rs147502432
|
0.00006
|
NM_024577.4(SH3TC2):c.*11680C>T
|
rs893213252
|
0.00006
|
NM_024577.4(SH3TC2):c.*1310G>A
|
rs886060184
|
0.00006
|
NM_024577.4(SH3TC2):c.*21371A>G
|
rs768014940
|
0.00006
|
NM_024577.4(SH3TC2):c.*2729T>C
|
rs555581492
|
0.00006
|
NM_024577.4(SH3TC2):c.*341A>G
|
rs868833114
|
0.00006
|
NM_024577.4(SH3TC2):c.*5304G>A
|
rs886060171
|
0.00006
|
NM_024577.4(SH3TC2):c.*7189C>A
|
rs886060163
|
0.00006
|
NM_024577.4(SH3TC2):c.*7269A>G
|
rs763490898
|
0.00006
|
NM_024577.4(SH3TC2):c.*7452G>A
|
rs761137746
|
0.00006
|
NM_024577.4(SH3TC2):c.*8521C>A
|
rs886060152
|
0.00006
|
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776
|
0.00006
|
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272
|
0.00006
|
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)
|
rs574669908
|
0.00006
|
NM_030962.4(SBF2):c.*1495T>C
|
rs929359339
|
0.00006
|
NM_030962.4(SBF2):c.*305A>G
|
rs905556733
|
0.00006
|
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)
|
rs146868794
|
0.00006
|
NM_030962.4(SBF2):c.2598G>A (p.Pro866=)
|
rs376372877
|
0.00006
|
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn)
|
rs572884226
|
0.00006
|
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val)
|
rs750174637
|
0.00006
|
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg)
|
rs202148808
|
0.00006
|
NM_033305.3(VPS13A):c.8212-15G>A
|
rs771085531
|
0.00006
|
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=)
|
rs201517936
|
0.00006
|
NM_133259.4(LRPPRC):c.*1372G>A
|
rs750310194
|
0.00006
|
NM_133259.4(LRPPRC):c.*1587C>T
|
rs886056046
|
0.00006
|
NM_133259.4(LRPPRC):c.*1653G>A
|
rs886056045
|
0.00006
|
NM_133259.4(LRPPRC):c.*485C>T
|
rs886056051
|
0.00006
|
NM_133259.4(LRPPRC):c.*518A>T
|
rs138559252
|
0.00006
|
NM_133259.4(LRPPRC):c.*667C>T
|
rs533028399
|
0.00006
|
NM_133259.4(LRPPRC):c.-19C>G
|
rs574328970
|
0.00006
|
NM_133259.4(LRPPRC):c.1009+15A>T
|
rs572849791
|
0.00006
|
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly)
|
rs886056062
|
0.00006
|
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=)
|
rs145105621
|
0.00006
|
NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala)
|
rs143290138
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_174889.4(NDUFAF2):c.-66G>C
|
rs376045901
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_181882.3(PRX):c.*45C>T
|
rs200778472
|
0.00006
|
NM_181882.3(PRX):c.1500A>G (p.Ser500=)
|
rs777104457
|
0.00006
|
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg)
|
rs542711361
|
0.00006
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_181882.3(PRX):c.597C>T (p.Ala199=)
|
rs144157275
|
0.00006
|
NM_181882.3(PRX):c.992C>T (p.Pro331Leu)
|
rs566629777
|
0.00006
|
NM_198252.3(GSN):c.1191+14G>A
|
rs377308627
|
0.00006
|
NM_198252.3(GSN):c.427G>A (p.Gly143Arg)
|
rs750132751
|
0.00006
|
NM_000143.4(FH):c.63C>T (p.Ala21=)
|
rs555404867
|
0.00005
|
NM_000153.4(GALC):c.195+15G>A
|
rs748140458
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
NM_000217.3(KCNA1):c.*2000C>T
|
rs886049522
|
0.00005
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala)
|
rs182308788
|
0.00005
|
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln)
|
rs79351868
|
0.00005
|
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)
|
rs772383329
|
0.00005
|
NM_000318.3(PEX2):c.*705T>A
|
rs569163196
|
0.00005
|
NM_000370.3(TTPA):c.*1716T>C
|
rs1029598636
|
0.00005
|
NM_000384.3(APOB):c.5913G>A (p.Leu1971=)
|
rs374251542
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000530.8(MPZ):c.*681A>T
|
rs886045474
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)
|
rs139242990
|
0.00005
|
NM_001005373.4(LRSAM1):c.-189+47C>T
|
rs886063450
|
0.00005
|
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His)
|
rs368689811
|
0.00005
|
NM_001005373.4(LRSAM1):c.619+13C>T
|
rs148704769
|
0.00005
|
NM_001034850.3(RETREG1):c.*1337A>C
|
rs894112531
|
0.00005
|
NM_001042472.3(ABHD12):c.858A>C (p.Pro286=)
|
rs372807311
|
0.00005
|
NM_001079866.2(BCS1L):c.-85G>A
|
rs938140522
|
0.00005
|
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)
|
rs756932413
|
0.00005
|
NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=)
|
rs559745979
|
0.00005
|
NM_001113491.2(SEPTIN9):c.76+12954C>T
|
rs563964076
|
0.00005
|
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)
|
rs138964424
|
0.00005
|
NM_001127649.3(PEX26):c.*1618G>C
|
rs1358815707
|
0.00005
|
NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=)
|
rs370444117
|
0.00005
|
NM_001130823.3(DNMT1):c.2019+15G>C
|
rs370849760
|
0.00005
|
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=)
|
rs534263445
|
0.00005
|
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His)
|
rs147118268
|
0.00005
|
NM_001136472.2(LITAF):c.*882G>A
|
rs535657236
|
0.00005
|
NM_001136472.2(LITAF):c.477G>A (p.Lys159=)
|
rs371453151
|
0.00005
|
NM_001303.4(COX10):c.173G>A (p.Arg58His)
|
rs772223730
|
0.00005
|
NM_001351132.2(PEX5):c.967-15G>A
|
rs201341037
|
0.00005
|
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu)
|
rs200671761
|
0.00005
|
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile)
|
rs757989638
|
0.00005
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436
|
0.00005
|
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)
|
rs372221218
|
0.00005
|
NM_001723.7(DST):c.5346T>A (p.Leu1782=)
|
rs769786699
|
0.00005
|
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)
|
rs121913036
|
0.00005
|
NM_002496.4(NDUFS8):c.199+5G>A
|
rs373522607
|
0.00005
|
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)
|
rs139334907
|
0.00005
|
NM_002529.4(NTRK1):c.*96G>A
|
rs886045374
|
0.00005
|
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)
|
rs149960336
|
0.00005
|
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)
|
rs757803799
|
0.00005
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
NM_002618.4(PEX13):c.*170C>G
|
rs77041272
|
0.00005
|
NM_002778.4(PSAP):c.*596A>G
|
rs965039324
|
0.00005
|
NM_002778.4(PSAP):c.-22G>C
|
rs569841336
|
0.00005
|
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)
|
rs749663645
|
0.00005
|
NM_002778.4(PSAP):c.380G>A (p.Arg127His)
|
rs886047151
|
0.00005
|
NM_002857.4(PEX19):c.*1103C>T
|
rs561417695
|
0.00005
|
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn)
|
rs863224226
|
0.00005
|
NM_003172.4(SURF1):c.507C>T (p.Thr169=)
|
rs782614599
|
0.00005
|
NM_003477.3(PDHX):c.242-4G>A
|
rs199583315
|
0.00005
|
NM_003477.3(PDHX):c.402A>G (p.Glu134=)
|
rs768560478
|
0.00005
|
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)
|
rs770872113
|
0.00005
|
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)
|
rs150204862
|
0.00005
|
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)
|
rs118106981
|
0.00005
|
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)
|
rs928084265
|
0.00005
|
NM_004589.4(SCO1):c.640G>A (p.Ala214Thr)
|
rs145764824
|
0.00005
|
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val)
|
rs367692761
|
0.00005
|
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)
|
rs377360782
|
0.00005
|
NM_012073.5(CCT5):c.531-13G>T
|
rs370943521
|
0.00005
|
NM_014365.3(HSPB8):c.*803T>C
|
rs886049029
|
0.00005
|
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871
|
0.00005
|
NM_014845.6(FIG4):c.2096+3A>G
|
rs374223402
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_014874.3(MFN2):c.-328T>A
|
rs886045217
|
0.00005
|
NM_014874.4(MFN2):c.*1295G>A
|
rs763783578
|
0.00005
|
NM_014874.4(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244
|
0.00005
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
NM_015600.5(ABHD12):c.1157+2023C>T
|
rs527626109
|
0.00005
|
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)
|
rs775961979
|
0.00005
|
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940
|
0.00005
|
NM_018972.4(GDAP1):c.*1301A>G
|
rs779268019
|
0.00005
|
NM_018972.4(GDAP1):c.*1416G>A
|
rs575631045
|
0.00005
|
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=)
|
rs567318021
|
0.00005
|
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)
|
rs774789966
|
0.00005
|
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr)
|
rs147812454
|
0.00005
|
NM_020247.5(COQ8A):c.798G>A (p.Thr266=)
|
rs750042754
|
0.00005
|
NM_021625.5(TRPV4):c.*411A>G
|
rs924343915
|
0.00005
|
NM_022041.4(GAN):c.*2019A>G
|
rs886052347
|
0.00005
|
NM_022041.4(GAN):c.*810C>A
|
rs886052342
|
0.00005
|
NM_024577.4(SH3TC2):c.*10014T>A
|
rs56162234
|
0.00005
|
NM_024577.4(SH3TC2):c.*12356A>T
|
rs553936023
|
0.00005
|
NM_024577.4(SH3TC2):c.*13923T>C
|
rs534282709
|
0.00005
|
NM_024577.4(SH3TC2):c.*16562G>T
|
rs369963209
|
0.00005
|
NM_024577.4(SH3TC2):c.*17192C>T
|
rs886060104
|
0.00005
|
NM_024577.4(SH3TC2):c.*3993G>C
|
rs138512171
|
0.00005
|
NM_024577.4(SH3TC2):c.*7254A>T
|
rs1054000517
|
0.00005
|
NM_024577.4(SH3TC2):c.*8748G>A
|
rs190904760
|
0.00005
|
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271
|
0.00005
|
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr)
|
rs370950513
|
0.00005
|
NM_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.755-7T>C
|
rs377234046
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_133259.4(LRPPRC):c.1678-7T>C
|
rs201370020
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)
|
rs769579395
|
0.00005
|
NM_181882.3(PRX):c.237C>T (p.Asp79=)
|
rs376174896
|
0.00005
|
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)
|
rs373051724
|
0.00005
|
NM_181882.3(PRX):c.683G>A (p.Arg228His)
|
rs562108874
|
0.00005
|
NM_198252.3(GSN):c.1423G>T (p.Val475Leu)
|
rs766945413
|
0.00005
|
NM_000081.4(LYST):c.110C>T (p.Thr37Met)
|
rs375106444
|
0.00004
|
NM_000081.4(LYST):c.11354G>A (p.Arg3785His)
|
rs370173269
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000108.5(DLD):c.*1876G>A
|
rs142001971
|
0.00004
|
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)
|
rs369802820
|
0.00004
|
NM_000143.4(FH):c.1482A>G (p.Ala494=)
|
rs201559643
|
0.00004
|
NM_000143.4(FH):c.346A>T (p.Ile116Phe)
|
rs201532589
|
0.00004
|
NM_000143.4(FH):c.917T>C (p.Val306Ala)
|
rs147991516
|
0.00004
|
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile)
|
rs557464603
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_000158.4(GBE1):c.*598G>C
|
rs886058898
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
|
rs759518868
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
NM_000217.3(KCNA1):c.*1320C>A
|
rs544323143
|
0.00004
|
NM_000217.3(KCNA1):c.*2104C>T
|
rs901182494
|
0.00004
|
NM_000217.3(KCNA1):c.*2987G>A
|
rs547570693
|
0.00004
|
NM_000217.3(KCNA1):c.*5274A>G
|
rs886049541
|
0.00004
|
NM_000217.3(KCNA1):c.*965A>T
|
rs886049518
|
0.00004
|
NM_000217.3(KCNA1):c.-849T>A
|
rs1337171000
|
0.00004
|
NM_000253.4(MTTP):c.-153C>G
|
rs886058954
|
0.00004
|
NM_000274.3(OAT):c.-104T>C
|
rs886046813
|
0.00004
|
NM_000284.4(PDHA1):c.291+12G>A
|
rs755244308
|
0.00004
|
NM_000286.3(PEX12):c.*708G>A
|
rs762099095
|
0.00004
|
NM_000286.3(PEX12):c.*922T>C
|
rs886052823
|
0.00004
|
NM_000287.3(PEX6):c.-39G>A
|
rs76974379
|
0.00004
|
NM_000287.4(PEX6):c.2642G>A (p.Arg881His)
|
rs751377690
|
0.00004
|
NM_000287.4(PEX6):c.2736G>A (p.Ala912=)
|
rs202049230
|
0.00004
|
NM_000287.4(PEX6):c.690G>A (p.Glu230=)
|
rs368341252
|
0.00004
|
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp)
|
rs150358700
|
0.00004
|
NM_000287.4(PEX6):c.939T>C (p.Pro313=)
|
rs151234121
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)
|
rs201106072
|
0.00004
|
NM_000318.2(PEX2):c.-367A>G
|
rs886063144
|
0.00004
|
NM_000318.3(PEX2):c.*1331T>C
|
rs950900674
|
0.00004
|
NM_000318.3(PEX2):c.*1602A>G
|
rs557330187
|
0.00004
|
NM_000318.3(PEX2):c.*1808C>A
|
rs980881594
|
0.00004
|
NM_000318.3(PEX2):c.*2294C>G
|
rs763651452
|
0.00004
|
NM_000318.3(PEX2):c.*394T>C
|
rs1010520129
|
0.00004
|
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)
|
rs138590115
|
0.00004
|
NM_000370.3(TTPA):c.*1486C>T
|
rs535310725
|
0.00004
|
NM_000370.3(TTPA):c.352A>G (p.Arg118Gly)
|
rs751549880
|
0.00004
|
NM_000370.3(TTPA):c.616G>A (p.Val206Ile)
|
rs554118281
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000466.3(PEX1):c.*133G>C
|
rs886062500
|
0.00004
|
NM_000466.3(PEX1):c.*234T>C
|
rs1004289500
|
0.00004
|
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)
|
rs754893068
|
0.00004
|
NM_000487.6(ARSA):c.*380G>A
|
rs1249327412
|
0.00004
|
NM_000487.6(ARSA):c.-223G>T
|
rs752129372
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_001005361.3(DNM2):c.-116C>T
|
rs966672075
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
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_001031710.3(KLHL7):c.793+5G>C
|
rs375718274
|
0.00004
|
NM_001034850.3(RETREG1):c.*510A>T
|
rs1456553866
|
0.00004
|
NM_001034850.3(RETREG1):c.264C>T (p.Ser88=)
|
rs750040156
|
0.00004
|
NM_001034850.3(RETREG1):c.808+6T>C
|
rs368052487
|
0.00004
|
NM_001042472.3(ABHD12):c.315C>T (p.Phe105=)
|
rs151069701
|
0.00004
|
NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe)
|
rs376230028
|
0.00004
|
NM_001079866.2(BCS1L):c.-50+425T>C
|
rs886055625
|
0.00004
|
NM_001113491.2(SEPTIN9):c.1465G>A (p.Glu489Lys)
|
rs770758927
|
0.00004
|
NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn)
|
rs549141429
|
0.00004
|
NM_001122955.4(BSCL2):c.1234+14T>G
|
rs778380128
|
0.00004
|
NM_001127649.3(PEX26):c.*1171G>A
|
rs184116244
|
0.00004
|
NM_001127649.3(PEX26):c.*2369C>G
|
rs971100485
|
0.00004
|
NM_001127649.3(PEX26):c.*912C>T
|
rs79240512
|
0.00004
|
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu)
|
rs200279475
|
0.00004
|
NM_001130823.2(DNMT1):c.-72C>T
|
rs779334757
|
0.00004
|
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala)
|
rs374027926
|
0.00004
|
NM_001130823.3(DNMT1):c.3116+11G>T
|
rs773580930
|
0.00004
|
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=)
|
rs550868730
|
0.00004
|
NM_001136472.2(LITAF):c.*193G>A
|
rs886051652
|
0.00004
|
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)
|
rs142133683
|
0.00004
|
NM_001303.4(COX10):c.*535C>A
|
rs886052604
|
0.00004
|
NM_001303.4(COX10):c.543G>A (p.Pro181=)
|
rs371273328
|
0.00004
|
NM_001351132.2(PEX5):c.-16-149A>G
|
rs1355750608
|
0.00004
|
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)
|
rs199822160
|
0.00004
|
NM_001365536.1(SCN9A):c.*125C>T
|
rs200465050
|
0.00004
|
NM_001365536.1(SCN9A):c.*1357C>T
|
rs200338267
|
0.00004
|
NM_001365536.1(SCN9A):c.-42T>C
|
rs201915876
|
0.00004
|
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)
|
rs201318927
|
0.00004
|
NM_001365536.1(SCN9A):c.822A>G (p.Lys274=)
|
rs199784484
|
0.00004
|
NM_001370298.3(FGD4):c.*1259A>G
|
rs756972257
|
0.00004
|
NM_001370298.3(FGD4):c.*1354A>G
|
rs886049261
|
0.00004
|
NM_001370298.3(FGD4):c.*3438C>T
|
rs886049269
|
0.00004
|
NM_001370298.3(FGD4):c.*4862C>A
|
rs886049275
|
0.00004
|
NM_001370298.3(FGD4):c.*4925A>T
|
rs886049276
|
0.00004
|
NM_001370298.3(FGD4):c.*5072A>G
|
rs886049278
|
0.00004
|
NM_001374736.1(DST):c.3600T>C (p.Ile1200=)
|
rs200453699
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
NM_001386140.1(MTTP):c.*826T>C
|
rs960548926
|
0.00004
|
NM_001386140.1(MTTP):c.*98T>A
|
rs886058961
|
0.00004
|
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)
|
rs371307089
|
0.00004
|
NM_001386140.1(MTTP):c.1769+3A>G
|
rs375993709
|
0.00004
|
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00004
|
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
0.00004
|
NM_001605.3(AARS1):c.2700G>A (p.Thr900=)
|
rs140814462
|
0.00004
|
NM_001953.5(TYMP):c.516+10G>A
|
rs552829713
|
0.00004
|
NM_001953.5(TYMP):c.647-9C>G
|
rs549324764
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_002180.3(IGHMBP2):c.*172C>T
|
rs3750978
|
0.00004
|
NM_002180.3(IGHMBP2):c.*529C>T
|
rs1373174966
|
0.00004
|
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271
|
0.00004
|
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg)
|
rs376644749
|
0.00004
|
NM_002180.3(IGHMBP2):c.2612-15G>A
|
rs372230504
|
0.00004
|
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu)
|
rs372629862
|
0.00004
|
NM_002180.3(IGHMBP2):c.2784+7C>T
|
rs58094037
|
0.00004
|
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)
|
rs3750977
|
0.00004
|
NM_002495.4(NDUFS4):c.-22C>A
|
rs144843461
|
0.00004
|
NM_002529.4(NTRK1):c.1252-6C>G
|
rs776728101
|
0.00004
|
NM_002529.4(NTRK1):c.2371T>C (p.Tyr791His)
|
rs750111437
|
0.00004
|
NM_002529.4(NTRK1):c.288-5C>T
|
rs200860423
|
0.00004
|
NM_002617.4(PEX10):c.*499G>A
|
rs886046143
|
0.00004
|
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys)
|
rs747921371
|
0.00004
|
NM_002618.4(PEX13):c.*2550G>A
|
rs544817238
|
0.00004
|
NM_002618.4(PEX13):c.*3038A>T
|
rs886056211
|
0.00004
|
NM_002778.3(PSAP):c.-50G>T
|
rs886047154
|
0.00004
|
NM_002778.4(PSAP):c.*346C>T
|
rs951110904
|
0.00004
|
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)
|
rs571773332
|
0.00004
|
NM_002857.4(PEX19):c.*662C>T
|
rs773981843
|
0.00004
|
NM_002977.3(SCN9A):c.-348G>C
|
rs1051254799
|
0.00004
|
NM_003477.3(PDHX):c.1188A>G (p.Leu396=)
|
rs200434738
|
0.00004
|
NM_003560.4(PLA2G6):c.*160T>C
|
rs886057500
|
0.00004
|
NM_003560.4(PLA2G6):c.*473C>T
|
rs886057498
|
0.00004
|
NM_003560.4(PLA2G6):c.*493C>G
|
rs188998877
|
0.00004
|
NM_003560.4(PLA2G6):c.*515C>T
|
rs1280474402
|
0.00004
|
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr)
|
rs746217497
|
0.00004
|
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)
|
rs528966598
|
0.00004
|
NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser)
|
rs780423461
|
0.00004
|
NM_003630.3(PEX3):c.*573A>G
|
rs886061135
|
0.00004
|
NM_003630.3(PEX3):c.-186C>T
|
rs993758988
|
0.00004
|
NM_003630.3(PEX3):c.332-9T>A
|
rs774963514
|
0.00004
|
NM_003680.4(YARS1):c.685-11A>G
|
rs751943571
|
0.00004
|
NM_004082.5(DCTN1):c.-162G>A
|
rs1292504283
|
0.00004
|
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met)
|
rs780858230
|
0.00004
|
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=)
|
rs371241720
|
0.00004
|
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln)
|
rs553822174
|
0.00004
|
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)
|
rs371723224
|
0.00004
|
NM_004082.5(DCTN1):c.824G>A (p.Arg275His)
|
rs375266113
|
0.00004
|
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)
|
rs201341132
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
NM_004376.6(COX15):c.-265T>G
|
rs373242921
|
0.00004
|
NM_004376.6(COX15):c.-338C>T
|
rs751586131
|
0.00004
|
NM_004544.4(NDUFA10):c.*1594G>A
|
rs773071160
|
0.00004
|
NM_004544.4(NDUFA10):c.*2455C>G
|
rs756778773
|
0.00004
|
NM_004544.4(NDUFA10):c.*3557G>A
|
rs149933652
|
0.00004
|
NM_004544.4(NDUFA10):c.*428C>T
|
rs557106858
|
0.00004
|
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg)
|
rs759587515
|
0.00004
|
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=)
|
rs149783296
|
0.00004
|
NM_004565.3(PEX14):c.297C>T (p.Tyr99=)
|
rs371473184
|
0.00004
|
NM_004565.3(PEX14):c.860C>T (p.Thr287Met)
|
rs376758920
|
0.00004
|
NM_004589.4(SCO1):c.*61A>C
|
rs886052594
|
0.00004
|
NM_004589.4(SCO1):c.*731A>G
|
rs1019914508
|
0.00004
|
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser)
|
rs757958481
|
0.00004
|
NM_004589.4(SCO1):c.33T>C (p.Val11=)
|
rs780127886
|
0.00004
|
NM_004589.4(SCO1):c.579G>T (p.Leu193=)
|
rs376145746
|
0.00004
|
NM_004637.6(RAB7A):c.*1301A>G
|
rs182528613
|
0.00004
|
NM_004637.6(RAB7A):c.*956G>A
|
rs1421148594
|
0.00004
|
NM_004637.6(RAB7A):c.-18A>G
|
rs886057941
|
0.00004
|
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val)
|
rs147480945
|
0.00004
|
NM_004813.4(PEX16):c.616C>G (p.Leu206Val)
|
rs375515674
|
0.00004
|
NM_004863.4(SPTLC2):c.*3809T>C
|
rs1021970499
|
0.00004
|
NM_004863.4(SPTLC2):c.-42A>G
|
rs751107431
|
0.00004
|
NM_004863.4(SPTLC2):c.1128G>A (p.Thr376=)
|
rs773806229
|
0.00004
|
NM_004863.4(SPTLC2):c.1470C>T (p.Asn490=)
|
rs374657234
|
0.00004
|
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)
|
rs765436915
|
0.00004
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
NM_006096.4(NDRG1):c.1155C>T (p.Ala385=)
|
rs774605205
|
0.00004
|
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser)
|
rs200433822
|
0.00004
|
NM_006158.5(NEFL):c.*1464A>G
|
rs773097050
|
0.00004
|
NM_006158.5(NEFL):c.*1482C>T
|
rs886062827
|
0.00004
|
NM_006158.5(NEFL):c.*51A>G
|
rs538082598
|
0.00004
|
NM_006308.3(HSPB3):c.*16T>G
|
rs201783790
|
0.00004
|
NM_006329.4(FBLN5):c.-57G>A
|
rs546827390
|
0.00004
|
NM_006329.4(FBLN5):c.273G>A (p.Pro91=)
|
rs368771780
|
0.00004
|
NM_006415.4(SPTLC1):c.501A>G (p.Gly167=)
|
rs139980134
|
0.00004
|
NM_007103.4(NDUFV1):c.1309-9C>T
|
rs374581520
|
0.00004
|
NM_012073.5(CCT5):c.*1126T>A
|
rs375626550
|
0.00004
|
NM_012073.5(CCT5):c.*1401G>A
|
rs188649700
|
0.00004
|
NM_012073.5(CCT5):c.*347T>C
|
rs774174590
|
0.00004
|
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile)
|
rs147989324
|
0.00004
|
NM_012073.5(CCT5):c.1283C>G (p.Ser428Cys)
|
rs201280643
|
0.00004
|
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile)
|
rs148752621
|
0.00004
|
NM_014317.5(PDSS1):c.488G>A (p.Arg163His)
|
rs780198984
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
NM_014874.4(MFN2):c.176-7C>T
|
rs374055101
|
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_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
0.00004
|
NM_015046.7(SETX):c.540A>G (p.Lys180=)
|
rs757470639
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
|
rs374110190
|
0.00004
|
NM_015046.7(SETX):c.9A>G (p.Thr3=)
|
rs139681694
|
0.00004
|
NM_016156.6(MTMR2):c.*2042G>C
|
rs923425383
|
0.00004
|
NM_016156.6(MTMR2):c.655-8A>G
|
rs768562214
|
0.00004
|
NM_018319.4(TDP1):c.*1200G>A
|
rs758892109
|
0.00004
|
NM_018319.4(TDP1):c.*37T>C
|
rs374710359
|
0.00004
|
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr)
|
rs202165305
|
0.00004
|
NM_018972.2(GDAP1):c.*2723T>C
|
rs886063119
|
0.00004
|
NM_018972.4(GDAP1):c.*1372A>G
|
rs896559706
|
0.00004
|
NM_018972.4(GDAP1):c.*860T>C
|
rs554748057
|
0.00004
|
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=)
|
rs764541059
|
0.00004
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020312.4(COQ9):c.20C>T (p.Ser7Phe)
|
rs1198499357
|
0.00004
|
NM_020312.4(COQ9):c.315G>A (p.Thr105=)
|
rs201238241
|
0.00004
|
NM_020631.4(PLEKHG5):c.*1087G>T
|
rs761811347
|
0.00004
|
NM_020631.5(PLEKHG5):c.*816C>T
|
rs1557731626
|
0.00004
|
NM_020631.6(PLEKHG5):c.*159G>A
|
rs909809050
|
0.00004
|
NM_020631.6(PLEKHG5):c.*68C>T
|
rs886046496
|
0.00004
|
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr)
|
rs200162521
|
0.00004
|
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys)
|
rs778272514
|
0.00004
|
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp)
|
rs183712624
|
0.00004
|
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
0.00004
|
NM_021625.5(TRPV4):c.*303G>A
|
rs909596433
|
0.00004
|
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)
|
rs140040335
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_021625.5(TRPV4):c.936G>A (p.Ala312=)
|
rs202084699
|
0.00004
|
NM_021830.5(TWNK):c.*234T>G
|
rs886046633
|
0.00004
|
NM_021830.5(TWNK):c.*438G>C
|
rs886046634
|
0.00004
|
NM_021830.5(TWNK):c.*561C>T
|
rs901722933
|
0.00004
|
NM_021830.5(TWNK):c.*574C>T
|
rs886046636
|
0.00004
|
NM_021830.5(TWNK):c.-549G>A
|
rs886046625
|
0.00004
|
NM_021830.5(TWNK):c.1572C>T (p.His524=)
|
rs774091248
|
0.00004
|
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
|
rs139124415
|
0.00004
|
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
|
rs771310512
|
0.00004
|
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)
|
rs767175342
|
0.00004
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
rs368863664
|
0.00004
|
NM_022041.4(GAN):c.*2350T>A
|
rs369040399
|
0.00004
|
NM_022041.4(GAN):c.1777C>T (p.Arg593Cys)
|
rs886052336
|
0.00004
|
NM_022041.4(GAN):c.444C>T (p.His148=)
|
rs764605890
|
0.00004
|
NM_022041.4(GAN):c.75G>A (p.Glu25=)
|
rs754548795
|
0.00004
|
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)
|
rs565395435
|
0.00004
|
NM_024407.5(NDUFS7):c.455+13C>T
|
rs376025020
|
0.00004
|
NM_024577.4(SH3TC2):c.*10505A>G
|
rs886060137
|
0.00004
|
NM_024577.4(SH3TC2):c.*12146C>G
|
rs886060123
|
0.00004
|
NM_024577.4(SH3TC2):c.*12256G>T
|
rs753234712
|
0.00004
|
NM_024577.4(SH3TC2):c.*17049C>G
|
rs1330263975
|
0.00004
|
NM_024577.4(SH3TC2):c.*17833T>G
|
rs886060103
|
0.00004
|
NM_024577.4(SH3TC2):c.*18055C>A
|
rs912198904
|
0.00004
|
NM_024577.4(SH3TC2):c.*19250T>A
|
rs886060099
|
0.00004
|
NM_024577.4(SH3TC2):c.*22168C>G
|
rs886060092
|
0.00004
|
NM_024577.4(SH3TC2):c.*3419C>T
|
rs753848228
|
0.00004
|
NM_024577.4(SH3TC2):c.*4604G>A
|
rs886060172
|
0.00004
|
NM_024577.4(SH3TC2):c.*5264G>A
|
rs548009546
|
0.00004
|
NM_024577.4(SH3TC2):c.*6104C>T
|
rs556527140
|
0.00004
|
NM_024577.4(SH3TC2):c.*7898A>G
|
rs1196588420
|
0.00004
|
NM_024577.4(SH3TC2):c.*9073G>C
|
rs886060150
|
0.00004
|
NM_024577.4(SH3TC2):c.*921C>T
|
rs1051987911
|
0.00004
|
NM_024577.4(SH3TC2):c.*9466A>C
|
rs980542009
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg)
|
rs753921188
|
0.00004
|
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)
|
rs142891020
|
0.00004
|
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)
|
rs201514622
|
0.00004
|
NM_030962.4(SBF2):c.810G>A (p.Thr270=)
|
rs769963369
|
0.00004
|
NM_033305.3(VPS13A):c.*665C>G
|
rs41289985
|
0.00004
|
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser)
|
rs189129300
|
0.00004
|
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val)
|
rs369818421
|
0.00004
|
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys)
|
rs141164942
|
0.00004
|
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr)
|
rs200616248
|
0.00004
|
NM_033305.3(VPS13A):c.6840T>C (p.His2280=)
|
rs750072063
|
0.00004
|
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu)
|
rs200293888
|
0.00004
|
NM_033305.3(VPS13A):c.981C>T (p.Ala327=)
|
rs368425803
|
0.00004
|
NM_078470.6(COX15):c.*1122C>G
|
rs142892403
|
0.00004
|
NM_078470.6(COX15):c.*1349A>C
|
rs779762294
|
0.00004
|
NM_078470.6(COX15):c.*2167A>G
|
rs1487355609
|
0.00004
|
NM_078470.6(COX15):c.*2620C>T
|
rs1327045732
|
0.00004
|
NM_078470.6(COX15):c.*2850A>G
|
rs895123603
|
0.00004
|
NM_078470.6(COX15):c.*2898A>G
|
rs886046601
|
0.00004
|
NM_078470.6(COX15):c.164G>A (p.Arg55Lys)
|
rs777532861
|
0.00004
|
NM_078470.6(COX15):c.784C>T (p.Arg262Ter)
|
rs774366079
|
0.00004
|
NM_133259.4(LRPPRC):c.*218A>G
|
rs949524933
|
0.00004
|
NM_133259.4(LRPPRC):c.*2230A>C
|
rs866243257
|
0.00004
|
NM_133259.4(LRPPRC):c.*587C>T
|
rs760992842
|
0.00004
|
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)
|
rs886056063
|
0.00004
|
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser)
|
rs760756132
|
0.00004
|
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala)
|
rs139493671
|
0.00004
|
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=)
|
rs766703715
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)
|
rs550008432
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)
|
rs537664679
|
0.00004
|
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr)
|
rs145790961
|
0.00004
|
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln)
|
rs752531623
|
0.00004
|
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
|
rs188765166
|
0.00004
|
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys)
|
rs751742049
|
0.00004
|
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)
|
rs763294661
|
0.00004
|
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
|
rs763185527
|
0.00004
|
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln)
|
rs372681751
|
0.00004
|
NM_198252.3(GSN):c.2045C>T (p.Thr682Met)
|
rs142854368
|
0.00004
|
NM_198252.3(GSN):c.7G>T (p.Val3Leu)
|
rs138068754
|
0.00004
|
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
|
rs145136281
|
0.00003
|
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)
|
rs140284566
|
0.00003
|
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)
|
rs142344106
|
0.00003
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr)
|
rs200813210
|
0.00003
|
NM_000143.4(FH):c.305C>T (p.Ala102Val)
|
rs61753295
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000143.4(FH):c.738+14A>G
|
rs765629644
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)
|
rs781281519
|
0.00003
|
NM_000158.4(GBE1):c.*395A>G
|
rs138608612
|
0.00003
|
NM_000166.6(GJB1):c.*22C>T
|
rs745547989
|
0.00003
|
NM_000182.5(HADHA):c.*182C>T
|
rs1013194171
|
0.00003
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
NM_000217.3(KCNA1):c.*2651C>T
|
rs886049524
|
0.00003
|
NM_000217.3(KCNA1):c.*3200A>G
|
rs886049527
|
0.00003
|
NM_000217.3(KCNA1):c.*4276C>T
|
rs1023613770
|
0.00003
|
NM_000217.3(KCNA1):c.-433C>G
|
rs888237919
|
0.00003
|
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)
|
rs147828649
|
0.00003
|
NM_000274.4(OAT):c.314T>C (p.Val105Ala)
|
rs199957428
|
0.00003
|
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
|
rs770667770
|
0.00003
|
NM_000286.3(PEX12):c.*433T>C
|
rs886052829
|
0.00003
|
NM_000286.3(PEX12):c.-405C>G
|
rs886052834
|
0.00003
|
NM_000287.3(PEX6):c.-62C>A
|
rs886061413
|
0.00003
|
NM_000287.4(PEX6):c.*168C>T
|
rs886061410
|
0.00003
|
NM_000287.4(PEX6):c.1234-10C>T
|
rs370661410
|
0.00003
|
NM_000288.4(PEX7):c.*223T>A
|
rs774681133
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
NM_000318.3(PEX2):c.*1047T>A
|
rs886063133
|
0.00003
|
NM_000318.3(PEX2):c.*2920_*2922del
|
rs746335104
|
0.00003
|
NM_000318.3(PEX2):c.*437T>C
|
rs1210536989
|
0.00003
|
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys)
|
rs147209403
|
0.00003
|
NM_000370.3(TTPA):c.*239C>T
|
rs761554482
|
0.00003
|
NM_000370.3(TTPA):c.-18G>A
|
rs764083716
|
0.00003
|
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg)
|
rs200547556
|
0.00003
|
NM_000371.4(TTR):c.267C>T (p.Tyr89=)
|
rs757950308
|
0.00003
|
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)
|
rs143425834
|
0.00003
|
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys)
|
rs747610107
|
0.00003
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
NM_000399.5(EGR2):c.*919G>C
|
rs886047087
|
0.00003
|
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala)
|
rs775544654
|
0.00003
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
NM_000487.6(ARSA):c.*293C>T
|
rs886057654
|
0.00003
|
NM_000487.6(ARSA):c.*479C>G
|
rs565093599
|
0.00003
|
NM_000487.6(ARSA):c.-355G>T
|
rs886057661
|
0.00003
|
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser)
|
rs377717242
|
0.00003
|
NM_000487.6(ARSA):c.225-4G>A
|
rs372937480
|
0.00003
|
NM_000487.6(ARSA):c.369C>T (p.Ala123=)
|
rs886057657
|
0.00003
|
NM_000520.5(HEXA):c.-181T>C
|
rs886051463
|
0.00003
|
NM_000521.3(HEXB):c.-62G>A
|
rs1045177384
|
0.00003
|
NM_000521.4(HEXB):c.-14G>A
|
rs886060749
|
0.00003
|
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760
|
0.00003
|
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn)
|
rs775027289
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_000925.4(PDHB):c.*360A>G
|
rs886058776
|
0.00003
|
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu)
|
rs752056463
|
0.00003
|
NM_001005361.3(DNM2):c.*601C>T
|
rs185820576
|
0.00003
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660
|
0.00003
|
NM_001005361.3(DNM2):c.750A>G (p.Ala250=)
|
rs202214529
|
0.00003
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
NM_001005373.4(LRSAM1):c.1504-5C>G
|
rs377190920
|
0.00003
|
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp)
|
rs757208185
|
0.00003
|
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=)
|
rs771510127
|
0.00003
|
NM_001034850.3(RETREG1):c.*853G>A
|
rs886060392
|
0.00003
|
NM_001034850.3(RETREG1):c.841A>G (p.Ser281Gly)
|
rs1430719865
|
0.00003
|
NM_001042472.3(ABHD12):c.191+15G>A
|
rs369626505
|
0.00003
|
NM_001113491.2(SEPTIN9):c.*1832A>G
|
rs1347522638
|
0.00003
|
NM_001113491.2(SEPTIN9):c.*759A>G
|
rs886053493
|
0.00003
|
NM_001113491.2(SEPTIN9):c.*989T>A
|
rs879645823
|
0.00003
|
NM_001113491.2(SEPTIN9):c.158G>A (p.Arg53Gln)
|
rs886053485
|
0.00003
|
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe)
|
rs756907468
|
0.00003
|
NM_001127649.3(PEX26):c.*2155A>G
|
rs773334209
|
0.00003
|
NM_001127649.3(PEX26):c.*662C>T
|
rs1197932567
|
0.00003
|
NM_001130823.3(DNMT1):c.-26C>T
|
rs745759875
|
0.00003
|
NM_001130823.3(DNMT1):c.3117-4G>A
|
rs781402268
|
0.00003
|
NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys)
|
rs891770194
|
0.00003
|
NM_001136472.2(LITAF):c.-6+558C>T
|
rs528624227
|
0.00003
|
NM_001136472.2(LITAF):c.357C>T (p.Cys119=)
|
rs549492447
|
0.00003
|
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr)
|
rs543022814
|
0.00003
|
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)
|
rs886063858
|
0.00003
|
NM_001303.4(COX10):c.*152T>A
|
rs886052602
|
0.00003
|
NM_001303.4(COX10):c.*628C>T
|
rs886052607
|
0.00003
|
NM_001303.4(COX10):c.44-3T>C
|
rs759643676
|
0.00003
|
NM_001351132.2(PEX5):c.*1139T>C
|
rs886049836
|
0.00003
|
NM_001351132.2(PEX5):c.-17+185T>C
|
rs779168691
|
0.00003
|
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)
|
rs148040746
|
0.00003
|
NM_001351132.2(PEX5):c.317-6T>C
|
rs755945291
|
0.00003
|
NM_001351132.2(PEX5):c.551+15C>T
|
rs886049825
|
0.00003
|
NM_001358921.2(COQ2):c.*257T>C
|
rs746613612
|
0.00003
|
NM_001365536.1(SCN9A):c.*1605T>C
|
rs199848927
|
0.00003
|
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly)
|
rs201890240
|
0.00003
|
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr)
|
rs755653914
|
0.00003
|
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)
|
rs121908916
|
0.00003
|
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)
|
rs765818027
|
0.00003
|
NM_001370298.3(FGD4):c.*131A>G
|
rs1251131756
|
0.00003
|
NM_001370298.3(FGD4):c.*3937A>G
|
rs180683152
|
0.00003
|
NM_001370298.3(FGD4):c.*411A>G
|
rs886049256
|
0.00003
|
NM_001370298.3(FGD4):c.*497T>C
|
rs886049257
|
0.00003
|
NM_001370298.3(FGD4):c.*4988G>A
|
rs540366205
|
0.00003
|
NM_001370298.3(FGD4):c.*734G>A
|
rs886049258
|
0.00003
|
NM_001374736.1(DST):c.4380G>A (p.Thr1460=)
|
rs200169945
|
0.00003
|
NM_001374736.1(DST):c.4750C>T (p.Arg1584Trp)
|
rs200735287
|
0.00003
|
NM_001374736.1(DST):c.4930-428G>A
|
rs886061640
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
NM_001605.3(AARS1):c.*169C>G
|
rs554221793
|
0.00003
|
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)
|
rs771059047
|
0.00003
|
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330
|
0.00003
|
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)
|
rs765398055
|
0.00003
|
NM_001723.7(DST):c.7580T>C (p.Ile2527Thr)
|
rs754471163
|
0.00003
|
NM_001953.5(TYMP):c.-92C>T
|
rs886057636
|
0.00003
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046
|
0.00003
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_002180.3(IGHMBP2):c.*379G>A
|
rs533355737
|
0.00003
|
NM_002180.3(IGHMBP2):c.*415G>A
|
rs886048609
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852
|
0.00003
|
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=)
|
rs368876333
|
0.00003
|
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)
|
rs201430870
|
0.00003
|
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser)
|
rs369602258
|
0.00003
|
NM_002506.3(NGF):c.173C>T (p.Ala58Val)
|
rs201861727
|
0.00003
|
NM_002506.3(NGF):c.421G>C (p.Val141Leu)
|
rs199511298
|
0.00003
|
NM_002506.3(NGF):c.477G>A (p.Val159=)
|
rs886045115
|
0.00003
|
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=)
|
rs772156529
|
0.00003
|
NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn)
|
rs745366033
|
0.00003
|
NM_002617.4(PEX10):c.*16G>A
|
rs886046146
|
0.00003
|
NM_002617.4(PEX10):c.*304C>T
|
rs758081067
|
0.00003
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
NM_002617.4(PEX10):c.435G>A (p.Met145Ile)
|
rs368273118
|
0.00003
|
NM_002617.4(PEX10):c.601-75G>A
|
rs369211467
|
0.00003
|
NM_002618.4(PEX13):c.*1283C>G
|
rs886056201
|
0.00003
|
NM_002618.4(PEX13):c.*1564C>G
|
rs886056203
|
0.00003
|
NM_002618.4(PEX13):c.*1566A>T
|
rs886056204
|
0.00003
|
NM_002618.4(PEX13):c.*2368T>C
|
rs1033146733
|
0.00003
|
NM_002618.4(PEX13):c.*2642T>C
|
rs886056209
|
0.00003
|
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg)
|
rs752073595
|
0.00003
|
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys)
|
rs200928725
|
0.00003
|
NM_002778.4(PSAP):c.*787C>T
|
rs932052243
|
0.00003
|
NM_002778.4(PSAP):c.*9A>G
|
rs376628499
|
0.00003
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)
|
rs886047150
|
0.00003
|
NM_002857.4(PEX19):c.*1592G>A
|
rs779471097
|
0.00003
|
NM_002857.4(PEX19):c.*2555T>G
|
rs148123121
|
0.00003
|
NM_002857.4(PEX19):c.*896A>G
|
rs886045445
|
0.00003
|
NM_003172.4(SURF1):c.328A>G (p.Met110Val)
|
rs782754332
|
0.00003
|
NM_003172.4(SURF1):c.736A>G (p.Ile246Val)
|
rs782480169
|
0.00003
|
NM_003560.4(PLA2G6):c.*620G>A
|
rs948625014
|
0.00003
|
NM_003560.4(PLA2G6):c.-31C>T
|
rs376270953
|
0.00003
|
NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys)
|
rs777548266
|
0.00003
|
NM_003560.4(PLA2G6):c.895-5C>T
|
rs372128546
|
0.00003
|
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln)
|
rs200463608
|
0.00003
|
NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)
|
rs778099655
|
0.00003
|
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=)
|
rs147297927
|
0.00003
|
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)
|
rs778201974
|
0.00003
|
NM_004082.5(DCTN1):c.2761-13G>A
|
rs531275207
|
0.00003
|
NM_004168.4(SDHA):c.441C>T (p.Pro147=)
|
rs201453889
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004376.5(COX15):c.*3330A>G
|
rs769776249
|
0.00003
|
NM_004376.5(COX15):c.*3652A>G
|
rs1033966106
|
0.00003
|
NM_004376.5(COX15):c.*3729C>G
|
rs886046597
|
0.00003
|
NM_004376.5(COX15):c.*4181C>A
|
rs1009446425
|
0.00003
|
NM_004376.6(COX15):c.-142A>C
|
rs560024737
|
0.00003
|
NM_004544.4(NDUFA10):c.*1011A>G
|
rs575477219
|
0.00003
|
NM_004544.4(NDUFA10):c.*2648C>T
|
rs953906857
|
0.00003
|
NM_004544.4(NDUFA10):c.*3098A>T
|
rs886055813
|
0.00003
|
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys)
|
rs762669820
|
0.00003
|
NM_004565.3(PEX14):c.*564C>T
|
rs561807671
|
0.00003
|
NM_004565.3(PEX14):c.*7G>T
|
rs367982022
|
0.00003
|
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp)
|
rs770183471
|
0.00003
|
NM_004565.3(PEX14):c.855C>G (p.Gly285=)
|
rs201107513
|
0.00003
|
NM_004589.4(SCO1):c.*80A>G
|
rs1338702106
|
0.00003
|
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln)
|
rs746265672
|
0.00003
|
NM_004637.6(RAB7A):c.*1344G>A
|
rs763557372
|
0.00003
|
NM_004637.6(RAB7A):c.*1374G>A
|
rs539522952
|
0.00003
|
NM_004813.4(PEX16):c.*309G>C
|
rs886048325
|
0.00003
|
NM_004863.4(SPTLC2):c.*1521G>A
|
rs886050846
|
0.00003
|
NM_004863.4(SPTLC2):c.*1622G>A
|
rs1175716506
|
0.00003
|
NM_004863.4(SPTLC2):c.*3396A>G
|
rs886050838
|
0.00003
|
NM_004863.4(SPTLC2):c.*3813G>A
|
rs886050834
|
0.00003
|
NM_004863.4(SPTLC2):c.*697C>G
|
rs187339967
|
0.00003
|
NM_005006.7(NDUFS1):c.-61G>C
|
rs367762150
|
0.00003
|
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)
|
rs774332882
|
0.00003
|
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn)
|
rs376012848
|
0.00003
|
NM_006096.4(NDRG1):c.*1195G>T
|
rs561506934
|
0.00003
|
NM_006096.4(NDRG1):c.*306C>T
|
rs886062714
|
0.00003
|
NM_006096.4(NDRG1):c.*377G>A
|
rs377385607
|
0.00003
|
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
|
rs530143616
|
0.00003
|
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile)
|
rs200593999
|
0.00003
|
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
|
rs199775873
|
0.00003
|
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
|
rs1457926450
|
0.00003
|
NM_006308.3(HSPB3):c.67C>T (p.Arg23Ter)
|
rs755999042
|
0.00003
|
NM_006329.4(FBLN5):c.*458T>C
|
rs886050887
|
0.00003
|
NM_006415.4(SPTLC1):c.*503C>T
|
rs994723205
|
0.00003
|
NM_006415.4(SPTLC1):c.442T>C (p.Leu148=)
|
rs376342795
|
0.00003
|
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val)
|
rs781435924
|
0.00003
|
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)
|
rs755312472
|
0.00003
|
NM_007103.4(NDUFV1):c.843T>C (p.His281=)
|
rs766555879
|
0.00003
|
NM_012073.5(CCT5):c.*345T>C
|
rs886059757
|
0.00003
|
NM_012073.5(CCT5):c.*420T>C
|
rs755661384
|
0.00003
|
NM_012073.5(CCT5):c.648C>G (p.Gly216=)
|
rs754143874
|
0.00003
|
NM_014317.5(PDSS1):c.1108-7C>G
|
rs367942639
|
0.00003
|
NM_014317.5(PDSS1):c.426G>A (p.Ala142=)
|
rs149274703
|
0.00003
|
NM_014317.5(PDSS1):c.860T>C (p.Val287Ala)
|
rs367783149
|
0.00003
|
NM_014845.5(FIG4):c.-152C>A
|
rs1408966015
|
0.00003
|
NM_014845.6(FIG4):c.243A>G (p.Lys81=)
|
rs200257799
|
0.00003
|
NM_014845.6(FIG4):c.2547-11A>G
|
rs745613994
|
0.00003
|
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494
|
0.00003
|
NM_014874.4(MFN2):c.*1562G>A
|
rs551566332
|
0.00003
|
NM_014874.4(MFN2):c.*1662T>C
|
rs1020801224
|
0.00003
|
NM_014874.4(MFN2):c.*297T>A
|
rs886045224
|
0.00003
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
0.00003
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
NM_015046.7(SETX):c.6396+8G>C
|
rs752365500
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)
|
rs138538492
|
0.00003
|
NM_015046.7(SETX):c.7851G>A (p.Thr2617=)
|
rs747616517
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
NM_016156.6(MTMR2):c.*1150C>T
|
rs886048766
|
0.00003
|
NM_016156.6(MTMR2):c.*335T>C
|
rs1565341245
|
0.00003
|
NM_017929.5(PEX26):c.-203G>A
|
rs544836312
|
0.00003
|
NM_018319.4(TDP1):c.*264G>T
|
rs779122283
|
0.00003
|
NM_018319.4(TDP1):c.*631C>T
|
rs1027214918
|
0.00003
|
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)
|
rs772139596
|
0.00003
|
NM_018319.4(TDP1):c.353C>T (p.Ala118Val)
|
rs150113775
|
0.00003
|
NM_018319.4(TDP1):c.716A>G (p.His239Arg)
|
rs750038981
|
0.00003
|
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu)
|
rs142600338
|
0.00003
|
NM_018972.4(GDAP1):c.*1080G>A
|
rs766481914
|
0.00003
|
NM_018972.4(GDAP1):c.*1437A>C
|
rs557040712
|
0.00003
|
NM_018972.4(GDAP1):c.*1570G>C
|
rs886063114
|
0.00003
|
NM_018972.4(GDAP1):c.*644G>T
|
rs913538379
|
0.00003
|
NM_018972.4(GDAP1):c.*663T>C
|
rs886063107
|
0.00003
|
NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg)
|
rs529032048
|
0.00003
|
NM_020247.5(COQ8A):c.*631C>G
|
rs886046073
|
0.00003
|
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val)
|
rs773489358
|
0.00003
|
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile)
|
rs778967806
|
0.00003
|
NM_020312.4(COQ9):c.240C>G (p.Pro80=)
|
rs2301773
|
0.00003
|
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=)
|
rs755539639
|
0.00003
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)
|
rs377257364
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
|
rs370289434
|
0.00003
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083
|
0.00003
|
NM_022041.4(GAN):c.*544C>G
|
rs141552591
|
0.00003
|
NM_022041.4(GAN):c.-74G>C
|
rs886052331
|
0.00003
|
NM_022041.4(GAN):c.283-15A>G
|
rs754182168
|
0.00003
|
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met)
|
rs368174338
|
0.00003
|
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val)
|
rs775410920
|
0.00003
|
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly)
|
rs775856806
|
0.00003
|
NM_024577.4(SH3TC2):c.*10573T>C
|
rs886060136
|
0.00003
|
NM_024577.4(SH3TC2):c.*11160C>T
|
rs886060132
|
0.00003
|
NM_024577.4(SH3TC2):c.*11927T>C
|
rs75711075
|
0.00003
|
NM_024577.4(SH3TC2):c.*14315A>C
|
rs762925324
|
0.00003
|
NM_024577.4(SH3TC2):c.*18824T>C
|
rs1259040390
|
0.00003
|
NM_024577.4(SH3TC2):c.*19342A>G
|
rs886060098
|
0.00003
|
NM_024577.4(SH3TC2):c.*1942del
|
rs886060183
|
0.00003
|
NM_024577.4(SH3TC2):c.*21118G>T
|
rs886060095
|
0.00003
|
NM_024577.4(SH3TC2):c.*21149A>G
|
rs552963495
|
0.00003
|
NM_024577.4(SH3TC2):c.*21281T>G
|
rs528064272
|
0.00003
|
NM_024577.4(SH3TC2):c.*21955A>G
|
rs575501943
|
0.00003
|
NM_024577.4(SH3TC2):c.*22505G>T
|
rs1034634583
|
0.00003
|
NM_024577.4(SH3TC2):c.*3034A>C
|
rs547028114
|
0.00003
|
NM_024577.4(SH3TC2):c.*3411C>T
|
rs886060178
|
0.00003
|
NM_024577.4(SH3TC2):c.*4232G>A
|
rs886060174
|
0.00003
|
NM_024577.4(SH3TC2):c.*5666A>G
|
rs749263197
|
0.00003
|
NM_024577.4(SH3TC2):c.*7877A>G
|
rs374095669
|
0.00003
|
NM_024577.4(SH3TC2):c.*8283A>T
|
rs780934660
|
0.00003
|
NM_024577.4(SH3TC2):c.*932T>A
|
rs886060186
|
0.00003
|
NM_024577.4(SH3TC2):c.*9980_*9981insTATT
|
rs1554119372
|
0.00003
|
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291
|
0.00003
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720
|
0.00003
|
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met)
|
rs746363004
|
0.00003
|
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402
|
0.00003
|
NM_030962.4(SBF2):c.48G>A (p.Glu16=)
|
rs889453292
|
0.00003
|
NM_030962.4(SBF2):c.93T>C (p.Phe31=)
|
rs200263159
|
0.00003
|
NM_033305.3(VPS13A):c.*182G>A
|
rs983693743
|
0.00003
|
NM_033305.3(VPS13A):c.-150C>T
|
rs560445300
|
0.00003
|
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala)
|
rs564878665
|
0.00003
|
NM_033305.3(VPS13A):c.2667+4G>A
|
rs748465954
|
0.00003
|
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr)
|
rs1437731472
|
0.00003
|
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro)
|
rs757415947
|
0.00003
|
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu)
|
rs772689261
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln)
|
rs201208791
|
0.00003
|
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys)
|
rs772152953
|
0.00003
|
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=)
|
rs368161466
|
0.00003
|
NM_033305.3(VPS13A):c.9077+8C>G
|
rs1325690140
|
0.00003
|
NM_078470.6(COX15):c.*2594T>G
|
rs1470572029
|
0.00003
|
NM_133259.4(LRPPRC):c.*110G>A
|
rs997583952
|
0.00003
|
NM_133259.4(LRPPRC):c.*1816T>C
|
rs886056043
|
0.00003
|
NM_133259.4(LRPPRC):c.*1961T>C
|
rs541683193
|
0.00003
|
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val)
|
rs368164663
|
0.00003
|
NM_133259.4(LRPPRC):c.1369+5G>A
|
rs199628926
|
0.00003
|
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe)
|
rs779873239
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)
|
rs770172045
|
0.00003
|
NM_181882.3(PRX):c.*152A>G
|
rs886054435
|
0.00003
|
NM_181882.3(PRX):c.*168C>A
|
rs1020596240
|
0.00003
|
NM_181882.3(PRX):c.-143G>A
|
rs559995627
|
0.00003
|
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu)
|
rs530370432
|
0.00003
|
NM_181882.3(PRX):c.2775C>T (p.Val925=)
|
rs201792838
|
0.00003
|
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
|
rs770520776
|
0.00003
|
NM_181882.3(PRX):c.2933A>G (p.Lys978Arg)
|
rs767386430
|
0.00003
|
NM_181882.3(PRX):c.493C>T (p.Arg165Cys)
|
rs555499679
|
0.00003
|
NM_181882.3(PRX):c.539C>T (p.Pro180Leu)
|
rs540526276
|
0.00003
|
NM_181882.3(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750
|
0.00003
|
NM_198252.3(GSN):c.-9-2026C>T
|
rs1048849212
|
0.00003
|
NM_198252.3(GSN):c.1443C>T (p.Pro481=)
|
rs200156774
|
0.00003
|
NM_198252.3(GSN):c.1553G>A (p.Arg518His)
|
rs769400986
|
0.00003
|
NM_198252.3(GSN):c.546T>G (p.Asn182Lys)
|
rs752698745
|
0.00003
|
NM_000081.4(LYST):c.2870T>C (p.Met957Thr)
|
rs201554916
|
0.00002
|
NM_000108.5(DLD):c.*355A>G
|
rs886061910
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
|
rs967089304
|
0.00002
|
NM_000108.5(DLD):c.677T>C (p.Val226Ala)
|
rs750449027
|
0.00002
|
NM_000143.4(FH):c.358A>G (p.Ile120Val)
|
rs199641124
|
0.00002
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)
|
rs545660610
|
0.00002
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
NM_000217.3(KCNA1):c.*3268C>T
|
rs886049528
|
0.00002
|
NM_000217.3(KCNA1):c.*4926G>A
|
rs886049537
|
0.00002
|
NM_000217.3(KCNA1):c.*517T>C
|
rs140164407
|
0.00002
|
NM_000217.3(KCNA1):c.*5191G>A
|
rs575078827
|
0.00002
|
NM_000217.3(KCNA1):c.-636G>C
|
rs886049503
|
0.00002
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
NM_000286.3(PEX12):c.*39G>A
|
rs751033919
|
0.00002
|
NM_000286.3(PEX12):c.349A>G (p.Ile117Val)
|
rs767207001
|
0.00002
|
NM_000304.4(PMP22):c.*174G>A
|
rs1386490077
|
0.00002
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs375449671
|
0.00002
|
NM_000370.3(TTPA):c.*1407G>A
|
rs1805273393
|
0.00002
|
NM_000370.3(TTPA):c.*286C>G
|
rs886063068
|
0.00002
|
NM_000370.3(TTPA):c.202C>A (p.Arg68=)
|
rs973874631
|
0.00002
|
NM_000370.3(TTPA):c.522C>T (p.Ser174=)
|
rs772020906
|
0.00002
|
NM_000399.5(EGR2):c.-1A>G
|
rs553201646
|
0.00002
|
NM_000399.5(EGR2):c.918C>T (p.Ala306=)
|
rs886047094
|
0.00002
|
NM_000466.3(PEX1):c.*180A>G
|
rs996832628
|
0.00002
|
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val)
|
rs150351763
|
0.00002
|
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys)
|
rs983157165
|
0.00002
|
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile)
|
rs749324355
|
0.00002
|
NM_000487.6(ARSA):c.*1714G>A
|
rs183937648
|
0.00002
|
NM_000487.6(ARSA):c.*466C>T
|
rs1181265537
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr)
|
rs756218457
|
0.00002
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
NM_000530.8(MPZ):c.*522C>A
|
rs900816889
|
0.00002
|
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
|
rs778424069
|
0.00002
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001005361.3(DNM2):c.1671+14G>A
|
rs767768534
|
0.00002
|
NM_001005373.4(LRSAM1):c.*356G>A
|
rs1394418871
|
0.00002
|
NM_001005373.4(LRSAM1):c.*597T>G
|
rs751523580
|
0.00002
|
NM_001005373.4(LRSAM1):c.-302C>T
|
rs1253485349
|
0.00002
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
NM_001034850.3(RETREG1):c.*1170A>G
|
rs184543943
|
0.00002
|
NM_001034850.3(RETREG1):c.*498G>A
|
rs554300777
|
0.00002
|
NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg)
|
rs1186811814
|
0.00002
|
NM_001042472.3(ABHD12):c.718G>A (p.Val240Met)
|
rs572997548
|
0.00002
|
NM_001113491.2(SEPTIN9):c.*628G>A
|
rs773994627
|
0.00002
|
NM_001113491.2(SEPTIN9):c.442C>T (p.Arg148Trp)
|
rs544797046
|
0.00002
|
NM_001113491.2(SEPTIN9):c.519C>T (p.Pro173=)
|
rs763954299
|
0.00002
|
NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp)
|
rs762063100
|
0.00002
|
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)
|
rs766492897
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_001127649.3(PEX26):c.*1631G>T
|
rs886057254
|
0.00002
|
NM_001127649.3(PEX26):c.*2651C>T
|
rs963146393
|
0.00002
|
NM_001127649.3(PEX26):c.*2768C>T
|
rs886057260
|
0.00002
|
NM_001127649.3(PEX26):c.*812C>T
|
rs886057250
|
0.00002
|
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu)
|
rs777633990
|
0.00002
|
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu)
|
rs766581207
|
0.00002
|
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys)
|
rs575612663
|
0.00002
|
NM_001130823.3(DNMT1):c.1149T>C (p.Tyr383=)
|
rs766807027
|
0.00002
|
NM_001130823.3(DNMT1):c.4554C>T (p.His1518=)
|
rs753248212
|
0.00002
|
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=)
|
rs750916721
|
0.00002
|
NM_001136472.2(LITAF):c.-6+526_-6+527insT
|
rs886051655
|
0.00002
|
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004
|
0.00002
|
NM_001303.4(COX10):c.1169C>T (p.Ala390Val)
|
rs749603596
|
0.00002
|
NM_001303.4(COX10):c.736C>T (p.Pro246Ser)
|
rs777697759
|
0.00002
|
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)
|
rs749417845
|
0.00002
|
NM_001351132.2(PEX5):c.909T>C (p.Ala303=)
|
rs376649488
|
0.00002
|
NM_001365536.1(SCN9A):c.*2729C>A
|
rs1313840276
|
0.00002
|
NM_001365536.1(SCN9A):c.*948G>A
|
rs201415802
|
0.00002
|
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)
|
rs199748300
|
0.00002
|
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)
|
rs200185692
|
0.00002
|
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)
|
rs199824489
|
0.00002
|
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=)
|
rs199572382
|
0.00002
|
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys)
|
rs200709311
|
0.00002
|
NM_001370298.3(FGD4):c.*1068A>G
|
rs537833755
|
0.00002
|
NM_001370298.3(FGD4):c.*1781G>A
|
rs886049264
|
0.00002
|
NM_001370298.3(FGD4):c.*4832G>A
|
rs1047737160
|
0.00002
|
NM_001370298.3(FGD4):c.*69T>C
|
rs1332829385
|
0.00002
|
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)
|
rs773609461
|
0.00002
|
NM_001370658.1(BTD):c.-87G>T
|
rs755119589
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001374736.1(DST):c.1779-287A>T
|
rs754357722
|
0.00002
|
NM_001376.5(DYNC1H1):c.*108G>A
|
rs886050378
|
0.00002
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
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_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00002
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
|
rs1412108587
|
0.00002
|
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
|
rs1422291997
|
0.00002
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296
|
0.00002
|
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg)
|
rs759706918
|
0.00002
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
NM_001540.5(HSPB1):c.498G>A (p.Glu166=)
|
rs148357753
|
0.00002
|
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422
|
0.00002
|
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
|
rs769182022
|
0.00002
|
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)
|
rs754391789
|
0.00002
|
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)
|
rs374478964
|
0.00002
|
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
|
rs914414911
|
0.00002
|
NM_001723.7(DST):c.3690C>T (p.Ala1230=)
|
rs374143007
|
0.00002
|
NM_001723.7(DST):c.5059G>A (p.Glu1687Lys)
|
rs886061646
|
0.00002
|
NM_001723.7(DST):c.6673T>C (p.Leu2225=)
|
rs753017821
|
0.00002
|
NM_001723.7(DST):c.7619A>G (p.Glu2540Gly)
|
rs372196234
|
0.00002
|
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr)
|
rs771700483
|
0.00002
|
NM_002180.3(IGHMBP2):c.-4G>A
|
rs752980392
|
0.00002
|
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
rs750580259
|
0.00002
|
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
|
rs771485988
|
0.00002
|
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val)
|
rs754473710
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=)
|
rs771900045
|
0.00002
|
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys)
|
rs1022912416
|
0.00002
|
NM_002495.4(NDUFS4):c.350+6T>C
|
rs3733833
|
0.00002
|
NM_002506.3(NGF):c.146G>A (p.Arg49His)
|
rs781072056
|
0.00002
|
NM_002506.3(NGF):c.196C>A (p.Gln66Lys)
|
rs766082334
|
0.00002
|
NM_002529.4(NTRK1):c.1917G>A (p.Val639=)
|
rs760171782
|
0.00002
|
NM_002529.4(NTRK1):c.2047-8C>T
|
rs769308621
|
0.00002
|
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=)
|
rs140852621
|
0.00002
|
NM_002617.4(PEX10):c.*905A>C
|
rs1316891759
|
0.00002
|
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)
|
rs556603981
|
0.00002
|
NM_002618.4(PEX13):c.*1533G>C
|
rs886056202
|
0.00002
|
NM_002618.4(PEX13):c.*1925C>T
|
rs1050392536
|
0.00002
|
NM_002618.4(PEX13):c.*2422T>G
|
rs958254103
|
0.00002
|
NM_002618.4(PEX13):c.*3050C>T
|
rs1246216348
|
0.00002
|
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe)
|
rs758388660
|
0.00002
|
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser)
|
rs367843599
|
0.00002
|
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys)
|
rs376720470
|
0.00002
|
NM_002618.4(PEX13):c.932G>A (p.Arg311His)
|
rs147344836
|
0.00002
|
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)
|
rs535525554
|
0.00002
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)
|
rs1428436713
|
0.00002
|
NM_002857.3(PEX19):c.-17A>C
|
rs748844578
|
0.00002
|
NM_002857.4(PEX19):c.*2383C>G
|
rs369641116
|
0.00002
|
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp)
|
rs373551988
|
0.00002
|
NM_003172.4(SURF1):c.437C>T (p.Ala146Val)
|
rs140443050
|
0.00002
|
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala)
|
rs147165855
|
0.00002
|
NM_003477.3(PDHX):c.511G>A (p.Val171Ile)
|
rs142256229
|
0.00002
|
NM_003560.4(PLA2G6):c.-15C>T
|
rs758224555
|
0.00002
|
NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn)
|
rs764199136
|
0.00002
|
NM_003560.4(PLA2G6):c.1348+10G>A
|
rs761202760
|
0.00002
|
NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser)
|
rs772131195
|
0.00002
|
NM_003560.4(PLA2G6):c.1648C>T (p.Arg550Trp)
|
rs886057502
|
0.00002
|
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)
|
rs11570607
|
0.00002
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
NM_003630.3(PEX3):c.96T>C (p.Tyr32=)
|
rs201718910
|
0.00002
|
NM_003680.3(YARS1):c.-415C>T
|
rs918787397
|
0.00002
|
NM_003680.4(YARS1):c.1080A>G (p.Pro360=)
|
rs752514117
|
0.00002
|
NM_003680.4(YARS1):c.1141-9C>G
|
rs761211081
|
0.00002
|
NM_003680.4(YARS1):c.415G>A (p.Val139Met)
|
rs772729857
|
0.00002
|
NM_003680.4(YARS1):c.684+3A>G
|
rs375332060
|
0.00002
|
NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165
|
0.00002
|
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)
|
rs771075973
|
0.00002
|
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=)
|
rs146094433
|
0.00002
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)
|
rs758252610
|
0.00002
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
NM_004376.5(COX15):c.*4212G>A
|
rs1381915856
|
0.00002
|
NM_004544.4(NDUFA10):c.*1665C>A
|
rs1314058965
|
0.00002
|
NM_004544.4(NDUFA10):c.*2382C>A
|
rs1289543938
|
0.00002
|
NM_004544.4(NDUFA10):c.*3113G>A
|
rs886055812
|
0.00002
|
NM_004544.4(NDUFA10):c.1000-3C>G
|
rs199648872
|
0.00002
|
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=)
|
rs749199433
|
0.00002
|
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly)
|
rs1222086753
|
0.00002
|
NM_004565.3(PEX14):c.1128G>C (p.Arg376=)
|
rs772300180
|
0.00002
|
NM_004589.4(SCO1):c.2T>C (p.Met1Thr)
|
rs371521614
|
0.00002
|
NM_004589.4(SCO1):c.304T>G (p.Phe102Val)
|
rs539094737
|
0.00002
|
NM_004589.4(SCO1):c.771+3G>C
|
rs376237477
|
0.00002
|
NM_004637.6(RAB7A):c.*1343C>T
|
rs576597041
|
0.00002
|
NM_004637.6(RAB7A):c.*702T>G
|
rs886057947
|
0.00002
|
NM_004813.4(PEX16):c.149-13C>G
|
rs369471815
|
0.00002
|
NM_004813.4(PEX16):c.609C>T (p.His203=)
|
rs537046144
|
0.00002
|
NM_004813.4(PEX16):c.694+11C>T
|
rs763840804
|
0.00002
|
NM_004813.4(PEX16):c.699C>T (p.Leu233=)
|
rs781411790
|
0.00002
|
NM_004863.4(SPTLC2):c.*1193G>C
|
rs532533522
|
0.00002
|
NM_004863.4(SPTLC2):c.*6018A>C
|
rs886050830
|
0.00002
|
NM_004863.4(SPTLC2):c.1450C>T (p.Arg484Trp)
|
rs765520235
|
0.00002
|
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr)
|
rs886055502
|
0.00002
|
NM_005908.4(MANBA):c.*447G>A
|
rs1025033156
|
0.00002
|
NM_005908.4(MANBA):c.*516T>C
|
rs562838260
|
0.00002
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
NM_005908.4(MANBA):c.2389G>A (p.Val797Met)
|
rs747236675
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_006096.3(NDRG1):c.-173G>A
|
rs886062720
|
0.00002
|
NM_006096.4(NDRG1):c.*184G>A
|
rs778104868
|
0.00002
|
NM_006096.4(NDRG1):c.*791C>T
|
rs1174133451
|
0.00002
|
NM_006096.4(NDRG1):c.*91G>A
|
rs926781207
|
0.00002
|
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
rs781381539
|
0.00002
|
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
|
rs138285479
|
0.00002
|
NM_006096.4(NDRG1):c.894G>A (p.Pro298=)
|
rs368061370
|
0.00002
|
NM_006158.5(NEFL):c.*1383C>T
|
rs1172304666
|
0.00002
|
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
|
rs758305388
|
0.00002
|
NM_006158.5(NEFL):c.45G>A (p.Lys15=)
|
rs62636518
|
0.00002
|
NM_006308.3(HSPB3):c.-17C>A
|
rs780916524
|
0.00002
|
NM_006329.4(FBLN5):c.-458G>A
|
rs369441736
|
0.00002
|
NM_006415.4(SPTLC1):c.1221A>G (p.Gln407=)
|
rs201413090
|
0.00002
|
NM_006415.4(SPTLC1):c.165+4C>T
|
rs750680286
|
0.00002
|
NM_006415.4(SPTLC1):c.58-9C>T
|
rs769188151
|
0.00002
|
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu)
|
rs753686111
|
0.00002
|
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln)
|
rs368184231
|
0.00002
|
NM_012073.5(CCT5):c.*566C>T
|
rs377154717
|
0.00002
|
NM_012073.5(CCT5):c.87G>A (p.Met29Ile)
|
rs1355138785
|
0.00002
|
NM_014317.5(PDSS1):c.*40T>C
|
rs201474044
|
0.00002
|
NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu)
|
rs763915931
|
0.00002
|
NM_014317.5(PDSS1):c.859G>A (p.Val287Met)
|
rs768568415
|
0.00002
|
NM_014317.5(PDSS1):c.999T>C (p.Thr333=)
|
rs141586424
|
0.00002
|
NM_014365.3(HSPB8):c.48G>A (p.Leu16=)
|
rs755586270
|
0.00002
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
rs776928002
|
0.00002
|
NM_014845.6(FIG4):c.2547-4A>G
|
rs886060985
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_014874.4(MFN2):c.1818C>T (p.Gly606=)
|
rs373843969
|
0.00002
|
NM_015046.7(SETX):c.*1442T>G
|
rs886063549
|
0.00002
|
NM_015046.7(SETX):c.*491G>A
|
rs1285017063
|
0.00002
|
NM_015046.7(SETX):c.*666C>G
|
rs886063551
|
0.00002
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
0.00002
|
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp)
|
rs190841601
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)
|
rs553512431
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr)
|
rs749395151
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
|
rs141497098
|
0.00002
|
NM_015046.7(SETX):c.7287+9C>A
|
rs769170686
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_016156.6(MTMR2):c.*2357T>C
|
rs886048762
|
0.00002
|
NM_016156.6(MTMR2):c.*660G>A
|
rs886048768
|
0.00002
|
NM_016156.6(MTMR2):c.-89C>G
|
rs868256702
|
0.00002
|
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val)
|
rs886048771
|
0.00002
|
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)
|
rs886048770
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys)
|
rs369742694
|
0.00002
|
NM_018972.4(GDAP1):c.*1030T>C
|
rs576789317
|
0.00002
|
NM_018972.4(GDAP1):c.*697A>G
|
rs766828605
|
0.00002
|
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)
|
rs771810975
|
0.00002
|
NM_018979.4(WNK1):c.*1060C>G
|
rs533399537
|
0.00002
|
NM_020247.5(COQ8A):c.*613G>A
|
rs537646948
|
0.00002
|
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys)
|
rs886046066
|
0.00002
|
NM_020247.5(COQ8A):c.1257-9C>T
|
rs200440257
|
0.00002
|
NM_020247.5(COQ8A):c.687G>A (p.Leu229=)
|
rs752409331
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_020631.4(PLEKHG5):c.*1006C>T
|
rs886046489
|
0.00002
|
NM_020631.4(PLEKHG5):c.*1354T>C
|
rs886046485
|
0.00002
|
NM_020631.5(PLEKHG5):c.*905G>A
|
rs886046490
|
0.00002
|
NM_020631.6(PLEKHG5):c.-54C>T
|
rs1056358234
|
0.00002
|
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val)
|
rs199839017
|
0.00002
|
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)
|
rs759272412
|
0.00002
|
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=)
|
rs758214289
|
0.00002
|
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His)
|
rs565558161
|
0.00002
|
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys)
|
rs773530688
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-10C>T
|
rs201656051
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-11C>T
|
rs747418024
|
0.00002
|
NM_020631.6(PLEKHG5):c.795+13A>G
|
rs766753209
|
0.00002
|
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser)
|
rs373198302
|
0.00002
|
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)
|
rs758280554
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
NM_021830.5(TWNK):c.*552G>C
|
rs111434414
|
0.00002
|
NM_021830.5(TWNK):c.*769G>A
|
rs919556945
|
0.00002
|
NM_021830.5(TWNK):c.922T>C (p.Leu308=)
|
rs754389465
|
0.00002
|
NM_022041.4(GAN):c.*1557C>A
|
rs528748555
|
0.00002
|
NM_022041.4(GAN):c.*1747A>G
|
rs886052346
|
0.00002
|
NM_022041.4(GAN):c.*381G>A
|
rs886052340
|
0.00002
|
NM_022041.4(GAN):c.-127C>T
|
rs886052329
|
0.00002
|
NM_022041.4(GAN):c.1518C>T (p.Asn506=)
|
rs886052333
|
0.00002
|
NM_024577.4(SH3TC2):c.*12010C>A
|
rs1221405889
|
0.00002
|
NM_024577.4(SH3TC2):c.*12126C>T
|
rs886060124
|
0.00002
|
NM_024577.4(SH3TC2):c.*12653C>A
|
rs886060121
|
0.00002
|
NM_024577.4(SH3TC2):c.*16257T>C
|
rs572081330
|
0.00002
|
NM_024577.4(SH3TC2):c.*16855A>G
|
rs886060108
|
0.00002
|
NM_024577.4(SH3TC2):c.*20618C>T
|
rs370869298
|
0.00002
|
NM_024577.4(SH3TC2):c.*3707C>T
|
rs548127285
|
0.00002
|
NM_024577.4(SH3TC2):c.*4409T>A
|
rs886060173
|
0.00002
|
NM_024577.4(SH3TC2):c.*5305C>A
|
rs886060170
|
0.00002
|
NM_024577.4(SH3TC2):c.*5576C>T
|
rs886060168
|
0.00002
|
NM_024577.4(SH3TC2):c.*5747C>T
|
rs886060166
|
0.00002
|
NM_024577.4(SH3TC2):c.*6682G>C
|
rs557452648
|
0.00002
|
NM_024577.4(SH3TC2):c.*7064A>G
|
rs1027337341
|
0.00002
|
NM_024577.4(SH3TC2):c.*8567G>A
|
rs369239776
|
0.00002
|
NM_024577.4(SH3TC2):c.*9233T>A
|
rs886060148
|
0.00002
|
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)
|
rs370025626
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_030962.4(SBF2):c.-37G>T
|
rs756232914
|
0.00002
|
NM_030962.4(SBF2):c.1971A>G (p.Val657=)
|
rs368639697
|
0.00002
|
NM_030962.4(SBF2):c.2397A>G (p.Thr799=)
|
rs759550730
|
0.00002
|
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931
|
0.00002
|
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)
|
rs757095964
|
0.00002
|
NM_030962.4(SBF2):c.5231+13A>G
|
rs1242027664
|
0.00002
|
NM_033305.3(VPS13A):c.*1095A>G
|
rs956751748
|
0.00002
|
NM_033305.3(VPS13A):c.*481G>A
|
rs1057515664
|
0.00002
|
NM_033305.3(VPS13A):c.*503C>A
|
rs1057515665
|
0.00002
|
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=)
|
rs777234852
|
0.00002
|
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val)
|
rs770035274
|
0.00002
|
NM_033305.3(VPS13A):c.6379-12T>G
|
rs865850464
|
0.00002
|
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn)
|
rs780035378
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser)
|
rs750460516
|
0.00002
|
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val)
|
rs892450419
|
0.00002
|
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro)
|
rs758989403
|
0.00002
|
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=)
|
rs755095881
|
0.00002
|
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala)
|
rs368916151
|
0.00002
|
NM_078470.6(COX15):c.*2959G>C
|
rs984578663
|
0.00002
|
NM_078470.6(COX15):c.841G>A (p.Val281Met)
|
rs201703572
|
0.00002
|
NM_078470.6(COX15):c.84A>G (p.Arg28=)
|
rs370595065
|
0.00002
|
NM_133259.4(LRPPRC):c.*1895G>A
|
rs886056042
|
0.00002
|
NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp)
|
rs754771907
|
0.00002
|
NM_133259.4(LRPPRC):c.1677+7C>T
|
rs374995996
|
0.00002
|
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)
|
rs750526576
|
0.00002
|
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=)
|
rs570349090
|
0.00002
|
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)
|
rs886056064
|
0.00002
|
NM_170707.4(LMNA):c.-109G>T
|
rs886045360
|
0.00002
|
NM_170707.4(LMNA):c.-44T>A
|
rs1185731069
|
0.00002
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364
|
0.00002
|
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)
|
rs779872068
|
0.00002
|
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)
|
rs371887816
|
0.00002
|
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
|
rs778017594
|
0.00002
|
NM_181882.3(PRX):c.833C>T (p.Pro278Leu)
|
rs886054440
|
0.00002
|
NM_198252.3(GSN):c.228G>A (p.Ala76=)
|
rs761824852
|
0.00002
|
NM_198252.3(GSN):c.723G>A (p.Ala241=)
|
rs377624593
|
0.00002
|
NM_198252.3(GSN):c.886+12A>C
|
rs201952723
|
0.00002
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu)
|
rs539146732
|
0.00001
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
NM_000081.4(LYST):c.6216A>G (p.Val2072=)
|
rs371248013
|
0.00001
|
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile)
|
rs202010795
|
0.00001
|
NM_000108.5(DLD):c.*1401G>T
|
rs1266926415
|
0.00001
|
NM_000108.5(DLD):c.*1724C>G
|
rs886061913
|
0.00001
|
NM_000108.5(DLD):c.*225C>T
|
rs553824101
|
0.00001
|
NM_000108.5(DLD):c.*394A>G
|
rs1246423607
|
0.00001
|
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)
|
rs766396602
|
0.00001
|
NM_000108.5(DLD):c.117G>A (p.Pro39=)
|
rs751621846
|
0.00001
|
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)
|
rs886061907
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
NM_000143.4(FH):c.1109-7C>T
|
rs1060504079
|
0.00001
|
NM_000143.4(FH):c.1443C>G (p.Thr481=)
|
rs780200136
|
0.00001
|
NM_000143.4(FH):c.190A>G (p.Asn64Asp)
|
rs886046319
|
0.00001
|
NM_000143.4(FH):c.415G>A (p.Val139Met)
|
rs200343823
|
0.00001
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00001
|
NM_000153.3(GALC):c.-21C>T
|
rs768255795
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.1418G>A (p.Arg473His)
|
rs374868151
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
NM_000153.4(GALC):c.40G>A (p.Ala14Thr)
|
rs1180517690
|
0.00001
|
NM_000153.4(GALC):c.443-12T>G
|
rs886038261
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000158.4(GBE1):c.*545G>C
|
rs548648836
|
0.00001
|
NM_000158.4(GBE1):c.-6C>G
|
rs1197683058
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys)
|
rs769567764
|
0.00001
|
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
|
rs779371387
|
0.00001
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000166.6(GJB1):c.*443G>A
|
rs533182215
|
0.00001
|
NM_000182.5(HADHA):c.*405C>T
|
rs886055859
|
0.00001
|
NM_000182.5(HADHA):c.*437T>A
|
rs779402635
|
0.00001
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
|
rs1231960929
|
0.00001
|
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)
|
rs775428463
|
0.00001
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
|
rs759968341
|
0.00001
|
NM_000217.3(KCNA1):c.*1376T>C
|
rs1303795570
|
0.00001
|
NM_000217.3(KCNA1):c.*2279G>A
|
rs1196240577
|
0.00001
|
NM_000217.3(KCNA1):c.*234A>T
|
rs886049514
|
0.00001
|
NM_000217.3(KCNA1):c.*3467C>T
|
rs967253377
|
0.00001
|
NM_000217.3(KCNA1):c.*377T>C
|
rs1947363733
|
0.00001
|
NM_000217.3(KCNA1):c.*4236C>T
|
rs886049533
|
0.00001
|
NM_000217.3(KCNA1):c.*4289T>A
|
rs886049534
|
0.00001
|
NM_000217.3(KCNA1):c.*4447A>G
|
rs1421190880
|
0.00001
|
NM_000217.3(KCNA1):c.*4929G>T
|
rs751650934
|
0.00001
|
NM_000217.3(KCNA1):c.*511A>G
|
rs886049515
|
0.00001
|
NM_000217.3(KCNA1):c.*5190C>T
|
rs913164685
|
0.00001
|
NM_000217.3(KCNA1):c.*5340G>C
|
rs1947397293
|
0.00001
|
NM_000217.3(KCNA1):c.*724G>A
|
rs886049516
|
0.00001
|
NM_000217.3(KCNA1):c.-909A>G
|
rs1050577946
|
0.00001
|
NM_000217.3(KCNA1):c.-99C>T
|
rs1367312353
|
0.00001
|
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=)
|
rs1264032724
|
0.00001
|
NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys)
|
rs529968149
|
0.00001
|
NM_000217.3(KCNA1):c.1A>G (p.Met1Val)
|
rs776861490
|
0.00001
|
NM_000217.3(KCNA1):c.303C>T (p.Arg101=)
|
rs886049509
|
0.00001
|
NM_000253.4(MTTP):c.-205G>A
|
rs886058953
|
0.00001
|
NM_000274.4(OAT):c.*189A>G
|
rs886046809
|
0.00001
|
NM_000274.4(OAT):c.*378A>G
|
rs886046807
|
0.00001
|
NM_000274.4(OAT):c.*486A>G
|
rs1377283827
|
0.00001
|
NM_000274.4(OAT):c.-60C>T
|
rs886046812
|
0.00001
|
NM_000274.4(OAT):c.211T>C (p.Trp71Arg)
|
rs780235906
|
0.00001
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
NM_000284.4(PDHA1):c.*1376C>T
|
rs963546680
|
0.00001
|
NM_000284.4(PDHA1):c.*1779A>T
|
rs758279534
|
0.00001
|
NM_000284.4(PDHA1):c.*1926G>C
|
rs778062708
|
0.00001
|
NM_000286.3(PEX12):c.*109A>G
|
rs996017117
|
0.00001
|
NM_000286.3(PEX12):c.*335T>C
|
rs886052830
|
0.00001
|
NM_000286.3(PEX12):c.*411A>C
|
rs2072778672
|
0.00001
|
NM_000286.3(PEX12):c.*532A>G
|
rs886052826
|
0.00001
|
NM_000286.3(PEX12):c.856G>A (p.Val286Ile)
|
rs766182813
|
0.00001
|
NM_000287.3(PEX6):c.-71C>G
|
rs886061414
|
0.00001
|
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)
|
rs571650965
|
0.00001
|
NM_000287.4(PEX6):c.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1365A>G (p.Pro455=)
|
rs759402659
|
0.00001
|
NM_000287.4(PEX6):c.1367+10G>A
|
rs776610051
|
0.00001
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
|
rs746117128
|
0.00001
|
NM_000287.4(PEX6):c.2547C>T (p.Asn849=)
|
rs1171568759
|
0.00001
|
NM_000287.4(PEX6):c.2877A>G (p.Gln959=)
|
rs562040179
|
0.00001
|
NM_000288.4(PEX7):c.-28G>A
|
rs376808803
|
0.00001
|
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
|
rs1219430310
|
0.00001
|
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
|
rs1424846175
|
0.00001
|
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys)
|
rs780186421
|
0.00001
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NM_000304.4(PMP22):c.*907C>A
|
rs963622100
|
0.00001
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
rs148822354
|
0.00001
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
rs765741053
|
0.00001
|
NM_000318.3(PEX2):c.*1581T>A
|
rs1214852177
|
0.00001
|
NM_000318.3(PEX2):c.*2456C>T
|
rs1461205423
|
0.00001
|
NM_000318.3(PEX2):c.*2787G>A
|
rs886063123
|
0.00001
|
NM_000318.3(PEX2):c.*324G>T
|
rs886063137
|
0.00001
|
NM_000318.3(PEX2):c.*498G>A
|
rs541772029
|
0.00001
|
NM_000318.3(PEX2):c.*773T>G
|
rs927177664
|
0.00001
|
NM_000318.3(PEX2):c.*91A>G
|
rs886063139
|
0.00001
|
NM_000318.3(PEX2):c.-178C>T
|
rs886063141
|
0.00001
|
NM_000318.3(PEX2):c.456T>G (p.Ile152Met)
|
rs1475014070
|
0.00001
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
0.00001
|
NM_000344.4(SMN1):c.840C>T (p.Phe280=)
|
rs1164325688
|
0.00001
|
NM_000370.3(TTPA):c.*1441C>G
|
rs553317836
|
0.00001
|
NM_000370.3(TTPA):c.*292A>G
|
rs886063067
|
0.00001
|
NM_000370.3(TTPA):c.*769G>A
|
rs775461769
|
0.00001
|
NM_000370.3(TTPA):c.358+15A>G
|
rs371592549
|
0.00001
|
NM_000370.3(TTPA):c.558A>G (p.Ser186=)
|
rs774283073
|
0.00001
|
NM_000370.3(TTPA):c.663+10A>G
|
rs374903020
|
0.00001
|
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe)
|
rs756313678
|
0.00001
|
NM_000371.4(TTR):c.*31G>A
|
rs553309501
|
0.00001
|
NM_000384.3(APOB):c.*207C>A
|
rs886055566
|
0.00001
|
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)
|
rs762255105
|
0.00001
|
NM_000384.3(APOB):c.12219C>T (p.Asn4073=)
|
rs886055573
|
0.00001
|
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys)
|
rs886055572
|
0.00001
|
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys)
|
rs886055571
|
0.00001
|
NM_000384.3(APOB):c.4216+4A>G
|
rs886055588
|
0.00001
|
NM_000399.5(EGR2):c.*655G>A
|
rs886047089
|
0.00001
|
NM_000399.5(EGR2):c.*79C>A
|
rs1310299341
|
0.00001
|
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)
|
rs886047095
|
0.00001
|
NM_000399.5(EGR2):c.924C>T (p.Ala308=)
|
rs886047093
|
0.00001
|
NM_000466.3(PEX1):c.*236C>A
|
rs1403267319
|
0.00001
|
NM_000466.3(PEX1):c.-45T>C
|
rs886062509
|
0.00001
|
NM_000466.3(PEX1):c.-77C>G
|
rs1301449696
|
0.00001
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala)
|
rs1251466114
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)
|
rs750911436
|
0.00001
|
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)
|
rs780992963
|
0.00001
|
NM_000466.3(PEX1):c.2927-8T>C
|
rs778618662
|
0.00001
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
|
rs374673391
|
0.00001
|
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
|
rs777384403
|
0.00001
|
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
|
rs764044654
|
0.00001
|
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg)
|
rs886062506
|
0.00001
|
NM_000487.6(ARSA):c.*10G>A
|
rs772710219
|
0.00001
|
NM_000487.6(ARSA):c.*1476G>A
|
rs8142531
|
0.00001
|
NM_000487.6(ARSA):c.*1629A>C
|
rs886057644
|
0.00001
|
NM_000487.6(ARSA):c.*1712C>T
|
rs1330240384
|
0.00001
|
NM_000487.6(ARSA):c.1211-15T>C
|
rs374150980
|
0.00001
|
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe)
|
rs886057658
|
0.00001
|
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)
|
rs74315464
|
0.00001
|
NM_000487.6(ARSA):c.663C>T (p.Phe221=)
|
rs754484249
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000520.5(HEXA):c.-207A>G
|
rs886051464
|
0.00001
|
NM_000520.6(HEXA):c.*12C>T
|
rs532797279
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys)
|
rs756740656
|
0.00001
|
NM_000521.4(HEXB):c.*105T>C
|
rs777009900
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln)
|
rs751678693
|
0.00001
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471
|
0.00001
|
NM_000530.8(MPZ):c.*369C>T
|
rs1359055917
|
0.00001
|
NM_000530.8(MPZ):c.*903G>A
|
rs1489097338
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000784.3(CYP27A1):c.-162C>T
|
rs886055629
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000925.4(PDHB):c.*199T>G
|
rs886058777
|
0.00001
|
NM_000925.4(PDHB):c.*365T>A
|
rs1023863848
|
0.00001
|
NM_000925.4(PDHB):c.*77C>T
|
rs766780930
|
0.00001
|
NM_000925.4(PDHB):c.-12G>A
|
rs758352130
|
0.00001
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
NM_000925.4(PDHB):c.11T>C (p.Val4Ala)
|
rs751921912
|
0.00001
|
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
|
rs772939767
|
0.00001
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
NM_001005361.3(DNM2):c.*106T>C
|
rs886054144
|
0.00001
|
NM_001005361.3(DNM2):c.*214C>T
|
rs1271831719
|
0.00001
|
NM_001005361.3(DNM2):c.-153G>T
|
rs886054138
|
0.00001
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900
|
0.00001
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
rs759366882
|
0.00001
|
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905
|
0.00001
|
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881
|
0.00001
|
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
rs746025991
|
0.00001
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
rs779081943
|
0.00001
|
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141
|
0.00001
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
rs1217925152
|
0.00001
|
NM_001005373.4(LRSAM1):c.-127C>A
|
rs1834340914
|
0.00001
|
NM_001005373.4(LRSAM1):c.-188-121A>G
|
rs886063453
|
0.00001
|
NM_001005373.4(LRSAM1):c.-189+127A>G
|
rs1434818116
|
0.00001
|
NM_001005373.4(LRSAM1):c.-78C>T
|
rs886063454
|
0.00001
|
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=)
|
rs886063456
|
0.00001
|
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu)
|
rs886063457
|
0.00001
|
NM_001005373.4(LRSAM1):c.1699-3C>T
|
rs756218616
|
0.00001
|
NM_001005373.4(LRSAM1):c.1834G>A (p.Gly612Ser)
|
rs1203313855
|
0.00001
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
NM_001005373.4(LRSAM1):c.390G>C (p.Gln130His)
|
rs1392820291
|
0.00001
|
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val)
|
rs542077582
|
0.00001
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
NM_001034850.3(RETREG1):c.1013C>T (p.Pro338Leu)
|
rs886060395
|
0.00001
|
NM_001034850.3(RETREG1):c.321-10G>A
|
rs539315640
|
0.00001
|
NM_001034850.3(RETREG1):c.442A>G (p.Arg148Gly)
|
rs886060396
|
0.00001
|
NM_001034850.3(RETREG1):c.900G>A (p.Glu300=)
|
rs368710242
|
0.00001
|
NM_001034850.3(RETREG1):c.94G>C (p.Ala32Pro)
|
rs1377991492
|
0.00001
|
NM_001042472.3(ABHD12):c.*149G>A
|
rs1013194735
|
0.00001
|
NM_001042472.3(ABHD12):c.*177C>T
|
rs889909532
|
0.00001
|
NM_001042472.3(ABHD12):c.*377C>T
|
rs886056562
|
0.00001
|
NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly)
|
rs1007058021
|
0.00001
|
NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val)
|
rs760720412
|
0.00001
|
NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val)
|
rs776224682
|
0.00001
|
NM_001042472.3(ABHD12):c.836G>A (p.Arg279His)
|
rs180761451
|
0.00001
|
NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln)
|
rs771187489
|
0.00001
|
NM_001079866.2(BCS1L):c.258T>C (p.His86=)
|
rs886055627
|
0.00001
|
NM_001079866.2(BCS1L):c.321-12G>A
|
rs776363896
|
0.00001
|
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)
|
rs781666793
|
0.00001
|
NM_001113491.2(SEPTIN9):c.*1548C>T
|
rs1245509279
|
0.00001
|
NM_001113491.2(SEPTIN9):c.*1675C>T
|
rs574185722
|
0.00001
|
NM_001113491.2(SEPTIN9):c.*586A>G
|
rs886053492
|
0.00001
|
NM_001113491.2(SEPTIN9):c.*904G>A
|
rs1568129606
|
0.00001
|
NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=)
|
rs772005682
|
0.00001
|
NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln)
|
rs781163314
|
0.00001
|
NM_001113491.2(SEPTIN9):c.1386C>T (p.Thr462=)
|
rs377093783
|
0.00001
|
NM_001113491.2(SEPTIN9):c.1584C>G (p.Thr528=)
|
rs373520148
|
0.00001
|
NM_001113491.2(SEPTIN9):c.322A>G (p.Thr108Ala)
|
rs746996757
|
0.00001
|
NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=)
|
rs775300302
|
0.00001
|
NM_001113491.2(SEPTIN9):c.76+12824C>T
|
rs530024170
|
0.00001
|
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val)
|
rs775718358
|
0.00001
|
NM_001122955.4(BSCL2):c.88-634G>C
|
rs575422877
|
0.00001
|
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)
|
rs773431994
|
0.00001
|
NM_001127649.3(PEX26):c.*1493C>G
|
rs1926993500
|
0.00001
|
NM_001127649.3(PEX26):c.*1928A>C
|
rs905337330
|
0.00001
|
NM_001127649.3(PEX26):c.*2285C>T
|
rs886057257
|
0.00001
|
NM_001127649.3(PEX26):c.*2370T>A
|
rs571008916
|
0.00001
|
NM_001127649.3(PEX26):c.*2604G>C
|
rs983170194
|
0.00001
|
NM_001127649.3(PEX26):c.*2724G>C
|
rs58564536
|
0.00001
|
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val)
|
rs370147115
|
0.00001
|
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
|
rs61752136
|
0.00001
|
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys)
|
rs780701336
|
0.00001
|
NM_001130823.3(DNMT1):c.1842G>A (p.Gln614=)
|
rs756623224
|
0.00001
|
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile)
|
rs762172122
|
0.00001
|
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met)
|
rs376854079
|
0.00001
|
NM_001130823.3(DNMT1):c.3117-8G>A
|
rs769623856
|
0.00001
|
NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser)
|
rs755865204
|
0.00001
|
NM_001130823.3(DNMT1):c.3394+7C>T
|
rs886054128
|
0.00001
|
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=)
|
rs761140414
|
0.00001
|
NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=)
|
rs746163207
|
0.00001
|
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)
|
rs757460628
|
0.00001
|
NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=)
|
rs2089536795
|
0.00001
|
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=)
|
rs779701784
|
0.00001
|
NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe)
|
rs886054127
|
0.00001
|
NM_001130823.3(DNMT1):c.4657-15G>A
|
rs201805582
|
0.00001
|
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=)
|
rs576877219
|
0.00001
|
NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg)
|
rs886054129
|
0.00001
|
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln)
|
rs1020363356
|
0.00001
|
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=)
|
rs760733624
|
0.00001
|
NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser)
|
rs761747950
|
0.00001
|
NM_001136472.2(LITAF):c.*1170A>G
|
rs886051648
|
0.00001
|
NM_001136472.2(LITAF):c.*1422A>G
|
rs1005760992
|
0.00001
|
NM_001136472.2(LITAF):c.*1870C>T
|
rs150472475
|
0.00001
|
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val)
|
rs201512884
|
0.00001
|
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479
|
0.00001
|
NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn)
|
rs768320178
|
0.00001
|
NM_001303.4(COX10):c.*1002C>T
|
rs1326135885
|
0.00001
|
NM_001303.4(COX10):c.*144T>C
|
rs1906742963
|
0.00001
|
NM_001303.4(COX10):c.*485G>A
|
rs931361027
|
0.00001
|
NM_001303.4(COX10):c.*564dup
|
rs886052605
|
0.00001
|
NM_001303.4(COX10):c.*653G>A
|
rs537449689
|
0.00001
|
NM_001303.4(COX10):c.*739A>G
|
rs886052608
|
0.00001
|
NM_001303.4(COX10):c.870G>A (p.Val290=)
|
rs1189180230
|
0.00001
|
NM_001351132.2(PEX5):c.*403C>T
|
rs886049828
|
0.00001
|
NM_001351132.2(PEX5):c.*506T>C
|
rs756345606
|
0.00001
|
NM_001351132.2(PEX5):c.*932A>T
|
rs1329909340
|
0.00001
|
NM_001351132.2(PEX5):c.-17+102G>C
|
rs747187521
|
0.00001
|
NM_001351132.2(PEX5):c.-17+240G>A
|
rs754651589
|
0.00001
|
NM_001351132.2(PEX5):c.-17+249C>T
|
rs939041822
|
0.00001
|
NM_001351132.2(PEX5):c.-17+65C>G
|
rs1437620977
|
0.00001
|
NM_001351132.2(PEX5):c.1111-12A>G
|
rs371599161
|
0.00001
|
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)
|
rs778715159
|
0.00001
|
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)
|
rs762815657
|
0.00001
|
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=)
|
rs753159772
|
0.00001
|
NM_001365536.1(SCN9A):c.*164G>A
|
rs1158330162
|
0.00001
|
NM_001365536.1(SCN9A):c.*1815T>C
|
rs202203220
|
0.00001
|
NM_001365536.1(SCN9A):c.*217G>A
|
rs200625860
|
0.00001
|
NM_001365536.1(SCN9A):c.*2721C>G
|
rs199595958
|
0.00001
|
NM_001365536.1(SCN9A):c.*2860C>T
|
rs200963393
|
0.00001
|
NM_001365536.1(SCN9A):c.*2986T>G
|
rs201730339
|
0.00001
|
NM_001365536.1(SCN9A):c.*3094A>G
|
rs1433503694
|
0.00001
|
NM_001365536.1(SCN9A):c.*3202T>C
|
rs1015184575
|
0.00001
|
NM_001365536.1(SCN9A):c.*669A>G
|
rs538508619
|
0.00001
|
NM_001365536.1(SCN9A):c.*835C>A
|
rs199955941
|
0.00001
|
NM_001365536.1(SCN9A):c.-31G>A
|
rs200780217
|
0.00001
|
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)
|
rs199986805
|
0.00001
|
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys)
|
rs763256222
|
0.00001
|
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)
|
rs201990547
|
0.00001
|
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)
|
rs777699798
|
0.00001
|
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)
|
rs200876333
|
0.00001
|
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala)
|
rs201890077
|
0.00001
|
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn)
|
rs141040985
|
0.00001
|
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile)
|
rs765384427
|
0.00001
|
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)
|
rs1018959938
|
0.00001
|
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)
|
rs372210358
|
0.00001
|
NM_001365951.3(KIF1B):c.*1104C>T
|
rs886044995
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001370298.3(FGD4):c.*1006C>T
|
rs886049260
|
0.00001
|
NM_001370298.3(FGD4):c.*1160G>A
|
rs540745195
|
0.00001
|
NM_001370298.3(FGD4):c.*1274G>A
|
rs570269532
|
0.00001
|
NM_001370298.3(FGD4):c.*1530T>C
|
rs1180856784
|
0.00001
|
NM_001370298.3(FGD4):c.*2309G>A
|
rs907361043
|
0.00001
|
NM_001370298.3(FGD4):c.*2859G>A
|
rs772364905
|
0.00001
|
NM_001370298.3(FGD4):c.*3022A>G
|
rs575960786
|
0.00001
|
NM_001370298.3(FGD4):c.*3482G>T
|
rs886049270
|
0.00001
|
NM_001370298.3(FGD4):c.*3814A>G
|
rs886049271
|
0.00001
|
NM_001370298.3(FGD4):c.*3905A>G
|
rs886049273
|
0.00001
|
NM_001370298.3(FGD4):c.*4446A>G
|
rs1056318297
|
0.00001
|
NM_001370298.3(FGD4):c.*5153G>A
|
rs1160169859
|
0.00001
|
NM_001370298.3(FGD4):c.*5177G>A
|
rs777896036
|
0.00001
|
NM_001370298.3(FGD4):c.*5243C>T
|
rs1225473163
|
0.00001
|
NM_001370298.3(FGD4):c.*5265A>G
|
rs1357653958
|
0.00001
|
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)
|
rs750265200
|
0.00001
|
NM_001370298.3(FGD4):c.167-62001C>G
|
rs765758875
|
0.00001
|
NM_001370298.3(FGD4):c.2172+12T>G
|
rs945554080
|
0.00001
|
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys)
|
rs752621629
|
0.00001
|
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly)
|
rs759415605
|
0.00001
|
NM_001370658.1(BTD):c.*57T>A
|
rs886058118
|
0.00001
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)
|
rs375239909
|
0.00001
|
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)
|
rs778785164
|
0.00001
|
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)
|
rs747489101
|
0.00001
|
NM_001374736.1(DST):c.1899G>A (p.Val633=)
|
rs746002438
|
0.00001
|
NM_001374736.1(DST):c.3154C>G (p.His1052Asp)
|
rs767323555
|
0.00001
|
NM_001374736.1(DST):c.3857T>G (p.Ile1286Ser)
|
rs886061649
|
0.00001
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
rs1376784009
|
0.00001
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
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.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182
|
0.00001
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090
|
0.00001
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
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_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
NM_001386140.1(MTTP):c.*1018G>A
|
rs1036088923
|
0.00001
|
NM_001386140.1(MTTP):c.*184G>A
|
rs146172944
|
0.00001
|
NM_001386140.1(MTTP):c.*490_*494del
|
rs886058963
|
0.00001
|
NM_001386140.1(MTTP):c.*668A>G
|
rs1021704277
|
0.00001
|
NM_001386140.1(MTTP):c.-20G>A
|
rs752823787
|
0.00001
|
NM_001386140.1(MTTP):c.-28T>C
|
rs886058956
|
0.00001
|
NM_001386140.1(MTTP):c.-54C>T
|
rs181769817
|
0.00001
|
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser)
|
rs138544271
|
0.00001
|
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser)
|
rs758939873
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
0.00001
|
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)
|
rs748108500
|
0.00001
|
NM_001386140.1(MTTP):c.756G>A (p.Ser252=)
|
rs750749323
|
0.00001
|
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp)
|
rs1428463955
|
0.00001
|
NM_001605.3(AARS1):c.*32T>C
|
rs771868425
|
0.00001
|
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
|
rs1054385792
|
0.00001
|
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
|
rs1468385890
|
0.00001
|
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)
|
rs142128800
|
0.00001
|
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
|
rs764124393
|
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_001605.3(AARS1):c.2109G>C (p.Val703=)
|
rs777499923
|
0.00001
|
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
|
rs1223915249
|
0.00001
|
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr)
|
rs886052253
|
0.00001
|
NM_001605.3(AARS1):c.63C>T (p.Asn21=)
|
rs773045737
|
0.00001
|
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly)
|
rs769239545
|
0.00001
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)
|
rs886052256
|
0.00001
|
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)
|
rs750331983
|
0.00001
|
NM_001605.3(AARS1):c.962+15C>T
|
rs779150762
|
0.00001
|
NM_001723.7(DST):c.4050G>A (p.Thr1350=)
|
rs377356403
|
0.00001
|
NM_001723.7(DST):c.4110A>G (p.Glu1370=)
|
rs571317621
|
0.00001
|
NM_001723.7(DST):c.4464C>T (p.Asp1488=)
|
rs80337136
|
0.00001
|
NM_001723.7(DST):c.4972A>G (p.Asn1658Asp)
|
rs886061647
|
0.00001
|
NM_001723.7(DST):c.6007G>A (p.Ala2003Thr)
|
rs74874398
|
0.00001
|
NM_001723.7(DST):c.6240T>G (p.Cys2080Trp)
|
rs199558360
|
0.00001
|
NM_001723.7(DST):c.7224G>T (p.Glu2408Asp)
|
rs769369001
|
0.00001
|
NM_001723.7(DST):c.7909C>A (p.Pro2637Thr)
|
rs763986013
|
0.00001
|
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser)
|
rs760529157
|
0.00001
|
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr)
|
rs145056860
|
0.00001
|
NM_001953.5(TYMP):c.929-1G>A
|
rs1180285291
|
0.00001
|
NM_001953.5(TYMP):c.930G>A (p.Gly310=)
|
rs773100466
|
0.00001
|
NM_002047.2(GARS1):c.-166T>G
|
rs1008764831
|
0.00001
|
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
rs779184435
|
0.00001
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
rs746139865
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274
|
0.00001
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_002180.3(IGHMBP2):c.*23C>T
|
rs931118021
|
0.00001
|
NM_002180.3(IGHMBP2):c.*862T>C
|
rs182410950
|
0.00001
|
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys)
|
rs536556753
|
0.00001
|
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile)
|
rs886048605
|
0.00001
|
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=)
|
rs886048606
|
0.00001
|
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val)
|
rs750717921
|
0.00001
|
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=)
|
rs187924099
|
0.00001
|
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
|
rs770556515
|
0.00001
|
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met)
|
rs761854167
|
0.00001
|
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg)
|
rs775782198
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+9T>G
|
rs886048603
|
0.00001
|
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=)
|
rs748899869
|
0.00001
|
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=)
|
rs755582766
|
0.00001
|
NM_002496.4(NDUFS8):c.*26T>G
|
rs886048592
|
0.00001
|
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)
|
rs764943259
|
0.00001
|
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)
|
rs748754134
|
0.00001
|
NM_002496.4(NDUFS8):c.501+12C>G
|
rs372004236
|
0.00001
|
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)
|
rs1371377502
|
0.00001
|
NM_002506.3(NGF):c.*120T>G
|
rs886045114
|
0.00001
|
NM_002506.3(NGF):c.174G>A (p.Ala58=)
|
rs147326889
|
0.00001
|
NM_002506.3(NGF):c.687T>C (p.Cys229=)
|
rs750539380
|
0.00001
|
NM_002506.3(NGF):c.93C>G (p.Thr31=)
|
rs1014644520
|
0.00001
|
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=)
|
rs780334454
|
0.00001
|
NM_002529.4(NTRK1):c.1196-11T>C
|
rs1024148691
|
0.00001
|
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)
|
rs763247367
|
0.00001
|
NM_002529.4(NTRK1):c.1717G>A (p.Val573Met)
|
rs755016431
|
0.00001
|
NM_002529.4(NTRK1):c.2248C>T (p.Arg750Cys)
|
rs1009726086
|
0.00001
|
NM_002529.4(NTRK1):c.265G>A (p.Gly89Ser)
|
rs2274496
|
0.00001
|
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly)
|
rs141592864
|
0.00001
|
NM_002617.4(PEX10):c.*175T>C
|
rs1389854882
|
0.00001
|
NM_002617.4(PEX10):c.*445G>A
|
rs557941413
|
0.00001
|
NM_002617.4(PEX10):c.*824G>A
|
rs1288938989
|
0.00001
|
NM_002617.4(PEX10):c.*838C>T
|
rs886046135
|
0.00001
|
NM_002617.4(PEX10):c.112+11G>T
|
rs1322541651
|
0.00001
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
NM_002617.4(PEX10):c.488C>T (p.Ala163Val)
|
rs750507518
|
0.00001
|
NM_002617.4(PEX10):c.601-18G>C
|
rs149822209
|
0.00001
|
NM_002617.4(PEX10):c.977G>A (p.Arg326His)
|
rs140890506
|
0.00001
|
NM_002618.4(PEX13):c.*2168A>T
|
rs886056207
|
0.00001
|
NM_002618.4(PEX13):c.*2234A>G
|
rs1358607905
|
0.00001
|
NM_002618.4(PEX13):c.*2581A>T
|
rs895620341
|
0.00001
|
NM_002618.4(PEX13):c.*2749C>G
|
rs888853893
|
0.00001
|
NM_002618.4(PEX13):c.*298G>C
|
rs886056199
|
0.00001
|
NM_002618.4(PEX13):c.*3216C>G
|
rs780132052
|
0.00001
|
NM_002618.4(PEX13):c.*895C>T
|
rs979509871
|
0.00001
|
NM_002618.4(PEX13):c.*953G>A
|
rs1339051481
|
0.00001
|
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser)
|
rs144300539
|
0.00001
|
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)
|
rs371789976
|
0.00001
|
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln)
|
rs761487103
|
0.00001
|
NM_002778.4(PSAP):c.*238G>C
|
rs1174797357
|
0.00001
|
NM_002778.4(PSAP):c.*90C>T
|
rs1348415797
|
0.00001
|
NM_002778.4(PSAP):c.*935A>G
|
rs886047148
|
0.00001
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
NM_002857.4(PEX19):c.*1330G>A
|
rs886045442
|
0.00001
|
NM_002857.4(PEX19):c.*138C>T
|
rs770138698
|
0.00001
|
NM_002857.4(PEX19):c.*1450T>A
|
rs886045441
|
0.00001
|
NM_002857.4(PEX19):c.*2155C>T
|
rs886045439
|
0.00001
|
NM_002857.4(PEX19):c.*469C>T
|
rs886045446
|
0.00001
|
NM_002857.4(PEX19):c.*716C>A
|
rs1201331563
|
0.00001
|
NM_002857.4(PEX19):c.*741C>T
|
rs1288025465
|
0.00001
|
NM_002857.4(PEX19):c.*971G>A
|
rs543861713
|
0.00001
|
NM_002857.4(PEX19):c.432+2T>C
|
rs757078881
|
0.00001
|
NM_003172.4(SURF1):c.106+15C>G
|
rs781892153
|
0.00001
|
NM_003172.4(SURF1):c.366C>T (p.Val122=)
|
rs886063630
|
0.00001
|
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile)
|
rs1836455088
|
0.00001
|
NM_003172.4(SURF1):c.801G>A (p.Leu267=)
|
rs782120692
|
0.00001
|
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys)
|
rs587758543
|
0.00001
|
NM_003477.2(PDHX):c.-371G>A
|
rs774565620
|
0.00001
|
NM_003477.3(PDHX):c.*742C>T
|
rs577566893
|
0.00001
|
NM_003477.3(PDHX):c.-7C>T
|
rs751680964
|
0.00001
|
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
|
rs766725349
|
0.00001
|
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
|
rs748511132
|
0.00001
|
NM_003560.2(PLA2G6):c.*676T>C
|
rs1175205623
|
0.00001
|
NM_003560.4(PLA2G6):c.*35C>T
|
rs532364258
|
0.00001
|
NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn)
|
rs375874092
|
0.00001
|
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)
|
rs886057503
|
0.00001
|
NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val)
|
rs748730147
|
0.00001
|
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)
|
rs587784339
|
0.00001
|
NM_003560.4(PLA2G6):c.1945C>T (p.Arg649Cys)
|
rs746432450
|
0.00001
|
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)
|
rs561645994
|
0.00001
|
NM_003560.4(PLA2G6):c.67C>T (p.Arg23Trp)
|
rs769876649
|
0.00001
|
NM_003630.3(PEX3):c.*978C>T
|
rs777447974
|
0.00001
|
NM_003630.3(PEX3):c.-175G>C
|
rs545482337
|
0.00001
|
NM_003630.3(PEX3):c.-214G>C
|
rs886061129
|
0.00001
|
NM_003630.3(PEX3):c.-231G>C
|
rs1037688328
|
0.00001
|
NM_003630.3(PEX3):c.51C>T (p.Ile17=)
|
rs367803197
|
0.00001
|
NM_003630.3(PEX3):c.810G>A (p.Met270Ile)
|
rs747026967
|
0.00001
|
NM_003680.3(YARS1):c.-167T>A
|
rs1057515514
|
0.00001
|
NM_003680.3(YARS1):c.-333C>T
|
rs1057515442
|
0.00001
|
NM_003680.4(YARS1):c.*724T>C
|
rs950577466
|
0.00001
|
NM_003680.4(YARS1):c.391C>T (p.Leu131=)
|
rs759430430
|
0.00001
|
NM_004082.5(DCTN1):c.*57C>T
|
rs567051449
|
0.00001
|
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=)
|
rs771325809
|
0.00001
|
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln)
|
rs200611961
|
0.00001
|
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=)
|
rs767877041
|
0.00001
|
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp)
|
rs764918482
|
0.00001
|
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val)
|
rs759276455
|
0.00001
|
NM_004082.5(DCTN1):c.3197-13A>G
|
rs374049568
|
0.00001
|
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=)
|
rs769145486
|
0.00001
|
NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His)
|
rs747831061
|
0.00001
|
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=)
|
rs1032786897
|
0.00001
|
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)
|
rs778307537
|
0.00001
|
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)
|
rs886056328
|
0.00001
|
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val)
|
rs773420384
|
0.00001
|
NM_004082.5(DCTN1):c.646-15G>A
|
rs201438504
|
0.00001
|
NM_004168.3(SDHA):c.-63G>A
|
rs886060513
|
0.00001
|
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)
|
rs778667374
|
0.00001
|
NM_004168.4(SDHA):c.558C>T (p.Ala186=)
|
rs199618059
|
0.00001
|
NM_004168.4(SDHA):c.896-11G>T
|
rs774043076
|
0.00001
|
NM_004376.5(COX15):c.*2841G>A
|
rs886046599
|
0.00001
|
NM_004376.5(COX15):c.*4152C>T
|
rs886046595
|
0.00001
|
NM_004376.6(COX15):c.-307C>G
|
rs886046614
|
0.00001
|
NM_004376.6(COX15):c.-472T>C
|
rs550813748
|
0.00001
|
NM_004544.4(NDUFA10):c.*105G>A
|
rs886055825
|
0.00001
|
NM_004544.4(NDUFA10):c.*1262C>T
|
rs759194775
|
0.00001
|
NM_004544.4(NDUFA10):c.*1709T>C
|
rs562457080
|
0.00001
|
NM_004544.4(NDUFA10):c.*1927G>C
|
rs1227609332
|
0.00001
|
NM_004544.4(NDUFA10):c.*1930C>G
|
rs535714073
|
0.00001
|
NM_004544.4(NDUFA10):c.*2192T>A
|
rs886055817
|
0.00001
|
NM_004544.4(NDUFA10):c.*2350G>A
|
rs1218747092
|
0.00001
|
NM_004544.4(NDUFA10):c.*3143C>T
|
rs1357789210
|
0.00001
|
NM_004544.4(NDUFA10):c.*3711A>G
|
rs1466622883
|
0.00001
|
NM_004544.4(NDUFA10):c.*445C>G
|
rs563264912
|
0.00001
|
NM_004544.4(NDUFA10):c.*489A>G
|
rs886055824
|
0.00001
|
NM_004544.4(NDUFA10):c.*804T>C
|
rs1422021026
|
0.00001
|
NM_004544.4(NDUFA10):c.*857G>C
|
rs1303822860
|
0.00001
|
NM_004544.4(NDUFA10):c.460+5A>G
|
rs1158773739
|
0.00001
|
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=)
|
rs980893132
|
0.00001
|
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr)
|
rs1188020120
|
0.00001
|
NM_004551.2(NDUFS3):c.-41T>C
|
rs750965789
|
0.00001
|
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys)
|
rs201457989
|
0.00001
|
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His)
|
rs780005953
|
0.00001
|
NM_004551.3(NDUFS3):c.657G>A (p.Val219=)
|
rs377323760
|
0.00001
|
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His)
|
rs201371939
|
0.00001
|
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)
|
rs770306617
|
0.00001
|
NM_004565.3(PEX14):c.*256A>G
|
rs373498478
|
0.00001
|
NM_004565.3(PEX14):c.*459T>C
|
rs954625667
|
0.00001
|
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu)
|
rs778315559
|
0.00001
|
NM_004565.3(PEX14):c.516C>T (p.Ser172=)
|
rs543843635
|
0.00001
|
NM_004565.3(PEX14):c.888G>T (p.Gln296His)
|
rs1358510161
|
0.00001
|
NM_004565.3(PEX14):c.912C>T (p.Asp304=)
|
rs1202283239
|
0.00001
|
NM_004565.3(PEX14):c.925G>T (p.Val309Leu)
|
rs764272265
|
0.00001
|
NM_004589.4(SCO1):c.*127A>G
|
rs779082082
|
0.00001
|
NM_004589.4(SCO1):c.*526T>C
|
rs2074615394
|
0.00001
|
NM_004589.4(SCO1):c.167G>A (p.Gly56Glu)
|
rs374849575
|
0.00001
|
NM_004589.4(SCO1):c.29G>T (p.Arg10Leu)
|
rs770075115
|
0.00001
|
NM_004589.4(SCO1):c.673G>A (p.Val225Ile)
|
rs886052595
|
0.00001
|
NM_004589.4(SCO1):c.724A>C (p.Arg242=)
|
rs761217696
|
0.00001
|
NM_004637.6(RAB7A):c.*831A>G
|
rs1432428820
|
0.00001
|
NM_004813.4(PEX16):c.*277C>T
|
rs886048326
|
0.00001
|
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln)
|
rs143737124
|
0.00001
|
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln)
|
rs2086807349
|
0.00001
|
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln)
|
rs769838583
|
0.00001
|
NM_004863.4(SPTLC2):c.*2275C>T
|
rs886050843
|
0.00001
|
NM_004863.4(SPTLC2):c.*2314C>T
|
rs886050842
|
0.00001
|
NM_004863.4(SPTLC2):c.*2672A>G
|
rs1407394634
|
0.00001
|
NM_004863.4(SPTLC2):c.*3380A>G
|
rs1462623596
|
0.00001
|
NM_004863.4(SPTLC2):c.*3454C>T
|
rs886050837
|
0.00001
|
NM_004863.4(SPTLC2):c.*3457T>C
|
rs886050836
|
0.00001
|
NM_004863.4(SPTLC2):c.*3819C>T
|
rs112133015
|
0.00001
|
NM_004863.4(SPTLC2):c.*5032T>A
|
rs892847100
|
0.00001
|
NM_004863.4(SPTLC2):c.*523C>T
|
rs561128453
|
0.00001
|
NM_004863.4(SPTLC2):c.*5915T>C
|
rs886050831
|
0.00001
|
NM_004863.4(SPTLC2):c.*6253T>C
|
rs370412771
|
0.00001
|
NM_004863.4(SPTLC2):c.407G>A (p.Arg136Gln)
|
rs760762454
|
0.00001
|
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu)
|
rs762005720
|
0.00001
|
NM_005006.7(NDUFS1):c.*641A>G
|
rs886055501
|
0.00001
|
NM_005006.7(NDUFS1):c.*756A>T
|
rs755460274
|
0.00001
|
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val)
|
rs758095913
|
0.00001
|
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)
|
rs1434275816
|
0.00001
|
NM_005006.7(NDUFS1):c.261+6T>C
|
rs748906579
|
0.00001
|
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)
|
rs780235386
|
0.00001
|
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu)
|
rs757139275
|
0.00001
|
NM_005006.7(NDUFS1):c.63T>C (p.Val21=)
|
rs756632601
|
0.00001
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356
|
0.00001
|
NM_005908.4(MANBA):c.*184A>G
|
rs886058967
|
0.00001
|
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
|
rs199966543
|
0.00001
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile)
|
rs561172083
|
0.00001
|
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala)
|
rs778853902
|
0.00001
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
NM_006096.4(NDRG1):c.*1621C>T
|
rs1465673240
|
0.00001
|
NM_006096.4(NDRG1):c.*201A>T
|
rs886062715
|
0.00001
|
NM_006096.4(NDRG1):c.*228G>A
|
rs1489186863
|
0.00001
|
NM_006096.4(NDRG1):c.*392G>A
|
rs562723755
|
0.00001
|
NM_006096.4(NDRG1):c.*48C>A
|
rs1390985905
|
0.00001
|
NM_006096.4(NDRG1):c.-99A>G
|
rs935238767
|
0.00001
|
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His)
|
rs144714216
|
0.00001
|
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667
|
0.00001
|
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
|
rs144310406
|
0.00001
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
NM_006158.5(NEFL):c.*171C>G
|
rs886062834
|
0.00001
|
NM_006158.5(NEFL):c.*856T>C
|
rs886062831
|
0.00001
|
NM_006158.5(NEFL):c.141G>A (p.Val47=)
|
rs886062835
|
0.00001
|
NM_006329.4(FBLN5):c.*419G>C
|
rs1451509746
|
0.00001
|
NM_006329.4(FBLN5):c.*653G>A
|
rs886050886
|
0.00001
|
NM_006329.4(FBLN5):c.*775A>C
|
rs886050885
|
0.00001
|
NM_006329.4(FBLN5):c.*77T>A
|
rs1326922015
|
0.00001
|
NM_006329.4(FBLN5):c.-382C>G
|
rs886050890
|
0.00001
|
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys)
|
rs886050889
|
0.00001
|
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met)
|
rs1221579102
|
0.00001
|
NM_006329.4(FBLN5):c.573A>G (p.Thr191=)
|
rs756288143
|
0.00001
|
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)
|
rs747288805
|
0.00001
|
NM_006415.4(SPTLC1):c.*1226G>T
|
rs562277733
|
0.00001
|
NM_006415.4(SPTLC1):c.*200G>T
|
rs1057515689
|
0.00001
|
NM_006415.4(SPTLC1):c.*483A>G
|
rs541284488
|
0.00001
|
NM_006415.4(SPTLC1):c.-27C>T
|
rs558203491
|
0.00001
|
NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile)
|
rs760231916
|
0.00001
|
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=)
|
rs371426372
|
0.00001
|
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu)
|
rs201727252
|
0.00001
|
NM_007103.4(NDUFV1):c.1308+7A>T
|
rs767679135
|
0.00001
|
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=)
|
rs148461900
|
0.00001
|
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys)
|
rs551603121
|
0.00001
|
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=)
|
rs886048589
|
0.00001
|
NM_012073.5(CCT5):c.*1382C>T
|
rs1222254097
|
0.00001
|
NM_012073.5(CCT5):c.*176G>C
|
rs547909747
|
0.00001
|
NM_012073.5(CCT5):c.*25A>G
|
rs886059755
|
0.00001
|
NM_012073.5(CCT5):c.*756C>G
|
rs1437353746
|
0.00001
|
NM_012073.5(CCT5):c.*775C>G
|
rs533967918
|
0.00001
|
NM_012073.5(CCT5):c.-56C>T
|
rs770097768
|
0.00001
|
NM_012073.5(CCT5):c.-59A>G
|
rs748544536
|
0.00001
|
NM_012073.5(CCT5):c.112A>G (p.Ile38Val)
|
rs1191228356
|
0.00001
|
NM_012073.5(CCT5):c.1270G>T (p.Ala424Ser)
|
rs767982457
|
0.00001
|
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys)
|
rs762423535
|
0.00001
|
NM_012073.5(CCT5):c.1615T>C (p.Ser539Pro)
|
rs779415398
|
0.00001
|
NM_012073.5(CCT5):c.531-10T>G
|
rs761866534
|
0.00001
|
NM_012073.5(CCT5):c.677A>G (p.Lys226Arg)
|
rs768757632
|
0.00001
|
NM_014317.5(PDSS1):c.*147A>G
|
rs1836943381
|
0.00001
|
NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile)
|
rs752338178
|
0.00001
|
NM_014317.5(PDSS1):c.163-12T>C
|
rs776345851
|
0.00001
|
NM_014317.5(PDSS1):c.279C>T (p.Thr93=)
|
rs779303490
|
0.00001
|
NM_014317.5(PDSS1):c.592A>G (p.Ile198Val)
|
rs1408544618
|
0.00001
|
NM_014317.5(PDSS1):c.941C>T (p.Ser314Leu)
|
rs766516366
|
0.00001
|
NM_014317.5(PDSS1):c.97G>A (p.Gly33Arg)
|
rs886046933
|
0.00001
|
NM_014365.3(HSPB8):c.*67T>G
|
rs886049026
|
0.00001
|
NM_014365.3(HSPB8):c.-172G>C
|
rs886049025
|
0.00001
|
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
|
rs1011669872
|
0.00001
|
NM_014845.6(FIG4):c.-124A>G
|
rs544958043
|
0.00001
|
NM_014845.6(FIG4):c.-134C>G
|
rs560811735
|
0.00001
|
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063
|
0.00001
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
rs1274229885
|
0.00001
|
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)
|
rs201375273
|
0.00001
|
NM_014874.4(MFN2):c.*1222G>A
|
rs531732785
|
0.00001
|
NM_014874.4(MFN2):c.*131G>A
|
rs1639706861
|
0.00001
|
NM_014874.4(MFN2):c.*1902C>T
|
rs933126234
|
0.00001
|
NM_014874.4(MFN2):c.*226C>T
|
rs184254413
|
0.00001
|
NM_014874.4(MFN2):c.*870C>T
|
rs886045227
|
0.00001
|
NM_014874.4(MFN2):c.1806C>T (p.Ser602=)
|
rs201258935
|
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_015046.7(SETX):c.*13A>T
|
rs1204954131
|
0.00001
|
NM_015046.7(SETX):c.*1420A>T
|
rs751833631
|
0.00001
|
NM_015046.7(SETX):c.*1722A>G
|
rs963398615
|
0.00001
|
NM_015046.7(SETX):c.*2232T>C
|
rs545456048
|
0.00001
|
NM_015046.7(SETX):c.*2287T>C
|
rs1842428001
|
0.00001
|
NM_015046.7(SETX):c.*869C>T
|
rs1354270999
|
0.00001
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)
|
rs771954896
|
0.00001
|
NM_015046.7(SETX):c.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
NM_015046.7(SETX):c.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
|
rs185338915
|
0.00001
|
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
|
rs765849036
|
0.00001
|
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
|
rs200571606
|
0.00001
|
NM_015046.7(SETX):c.617A>G (p.Glu206Gly)
|
rs759880306
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)
|
rs912160285
|
0.00001
|
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)
|
rs146862359
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_016156.6(MTMR2):c.*1271A>G
|
rs1863141196
|
0.00001
|
NM_016156.6(MTMR2):c.*190G>A
|
rs886048769
|
0.00001
|
NM_016156.6(MTMR2):c.*679A>C
|
rs776788118
|
0.00001
|
NM_016156.6(MTMR2):c.-82C>T
|
rs886048773
|
0.00001
|
NM_016156.6(MTMR2):c.1339G>A (p.Val447Ile)
|
rs769693714
|
0.00001
|
NM_016156.6(MTMR2):c.162C>T (p.Ala54=)
|
rs547213836
|
0.00001
|
NM_016156.6(MTMR2):c.240A>C (p.Pro80=)
|
rs201920176
|
0.00001
|
NM_017929.5(PEX26):c.-167C>T
|
rs886057244
|
0.00001
|
NM_018319.3(TDP1):c.-278C>T
|
rs886050880
|
0.00001
|
NM_018319.4(TDP1):c.*1239T>C
|
rs1387359215
|
0.00001
|
NM_018319.4(TDP1):c.*1367A>G
|
rs1462755052
|
0.00001
|
NM_018319.4(TDP1):c.*774G>A
|
rs372910082
|
0.00001
|
NM_018319.4(TDP1):c.-38G>A
|
rs1037056557
|
0.00001
|
NM_018319.4(TDP1):c.643T>C (p.Tyr215His)
|
rs754702237
|
0.00001
|
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu)
|
rs1428279795
|
0.00001
|
NM_018319.4(TDP1):c.84A>G (p.Pro28=)
|
rs1596498067
|
0.00001
|
NM_018319.4(TDP1):c.896del (p.Ser299fs)
|
rs773960264
|
0.00001
|
NM_018972.2(GDAP1):c.*2542A>G
|
rs909463010
|
0.00001
|
NM_018972.2(GDAP1):c.*2702T>C
|
rs1809669202
|
0.00001
|
NM_018972.4(GDAP1):c.*1289T>C
|
rs1439179536
|
0.00001
|
NM_018972.4(GDAP1):c.*1527G>A
|
rs886063113
|
0.00001
|
NM_018972.4(GDAP1):c.*1923C>T
|
rs886063116
|
0.00001
|
NM_018972.4(GDAP1):c.*195T>C
|
rs1201095819
|
0.00001
|
NM_018972.4(GDAP1):c.*1968C>T
|
rs567166158
|
0.00001
|
NM_018972.4(GDAP1):c.*1976C>T
|
rs527937918
|
0.00001
|
NM_018972.4(GDAP1):c.*2125A>C
|
rs1231558825
|
0.00001
|
NM_018972.4(GDAP1):c.*926C>A
|
rs1487448268
|
0.00001
|
NM_018972.4(GDAP1):c.*961G>C
|
rs886063110
|
0.00001
|
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
|
rs886293648
|
0.00001
|
NM_018972.4(GDAP1):c.485-6T>C
|
rs763802909
|
0.00001
|
NM_018979.4(WNK1):c.*2576_*2579dup
|
rs886048832
|
0.00001
|
NM_018979.4(WNK1):c.5448+2dup
|
rs774783305
|
0.00001
|
NM_020247.5(COQ8A):c.*150C>T
|
rs755137919
|
0.00001
|
NM_020247.5(COQ8A):c.*184G>C
|
rs548257684
|
0.00001
|
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala)
|
rs750053661
|
0.00001
|
NM_020247.5(COQ8A):c.1533G>A (p.Thr511=)
|
rs201337210
|
0.00001
|
NM_020247.5(COQ8A):c.1659+14C>T
|
rs1444332878
|
0.00001
|
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=)
|
rs7545723
|
0.00001
|
NM_020247.5(COQ8A):c.297C>T (p.Pro99=)
|
rs543084403
|
0.00001
|
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln)
|
rs751042244
|
0.00001
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala)
|
rs760349295
|
0.00001
|
NM_020312.4(COQ9):c.*134A>G
|
rs886052182
|
0.00001
|
NM_020312.4(COQ9):c.*565G>T
|
rs886052183
|
0.00001
|
NM_020312.4(COQ9):c.305G>A (p.Arg102His)
|
rs748239782
|
0.00001
|
NM_020312.4(COQ9):c.337G>A (p.Ala113Thr)
|
rs377307935
|
0.00001
|
NM_020312.4(COQ9):c.378+9A>G
|
rs757816546
|
0.00001
|
NM_020312.4(COQ9):c.379-9C>T
|
rs1189201208
|
0.00001
|
NM_020312.4(COQ9):c.679A>G (p.Met227Val)
|
rs748648629
|
0.00001
|
NM_020631.4(PLEKHG5):c.*1016A>G
|
rs886046488
|
0.00001
|
NM_020631.4(PLEKHG5):c.*1374C>T
|
rs1004946332
|
0.00001
|
NM_020631.5(PLEKHG5):c.*775T>G
|
rs886046492
|
0.00001
|
NM_020631.6(PLEKHG5):c.*192G>A
|
rs886046495
|
0.00001
|
NM_020631.6(PLEKHG5):c.*236G>A
|
rs1308834107
|
0.00001
|
NM_020631.6(PLEKHG5):c.-66C>T
|
rs755086442
|
0.00001
|
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu)
|
rs770934745
|
0.00001
|
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met)
|
rs377602965
|
0.00001
|
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp)
|
rs774755047
|
0.00001
|
NM_020631.6(PLEKHG5):c.2249+4C>T
|
rs751575330
|
0.00001
|
NM_020631.6(PLEKHG5):c.22C>T (p.Arg8Cys)
|
rs754002297
|
0.00001
|
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser)
|
rs768087057
|
0.00001
|
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu)
|
rs371547045
|
0.00001
|
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=)
|
rs749891873
|
0.00001
|
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=)
|
rs886046497
|
0.00001
|
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met)
|
rs781065380
|
0.00001
|
NM_021625.5(TRPV4):c.*212G>A
|
rs886048938
|
0.00001
|
NM_021625.5(TRPV4):c.*51G>A
|
rs886048939
|
0.00001
|
NM_021625.5(TRPV4):c.-59C>T
|
rs1299040866
|
0.00001
|
NM_021625.5(TRPV4):c.-74G>A
|
rs886048942
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)
|
rs189872222
|
0.00001
|
NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr)
|
rs775011025
|
0.00001
|
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)
|
rs763889344
|
0.00001
|
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg)
|
rs1423138633
|
0.00001
|
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly)
|
rs375189134
|
0.00001
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)
|
rs368963822
|
0.00001
|
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
|
rs1193945019
|
0.00001
|
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
|
rs756559560
|
0.00001
|
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn)
|
rs769445973
|
0.00001
|
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_021830.5(TWNK):c.*367A>G
|
rs62626296
|
0.00001
|
NM_021830.5(TWNK):c.*619G>A
|
rs886046637
|
0.00001
|
NM_021830.5(TWNK):c.*763T>C
|
rs886046639
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1244-14C>T
|
rs758757135
|
0.00001
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223
|
0.00001
|
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)
|
rs886046632
|
0.00001
|
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)
|
rs753457416
|
0.00001
|
NM_022041.4(GAN):c.*1102A>G
|
rs1394891003
|
0.00001
|
NM_022041.4(GAN):c.*2027T>A
|
rs886052348
|
0.00001
|
NM_022041.4(GAN):c.*2492T>A
|
rs886052354
|
0.00001
|
NM_022041.4(GAN):c.1017G>A (p.Gln339=)
|
rs201451382
|
0.00001
|
NM_022041.4(GAN):c.1123A>T (p.Met375Leu)
|
rs201252856
|
0.00001
|
NM_022041.4(GAN):c.132G>A (p.Gln44=)
|
rs774609110
|
0.00001
|
NM_022041.4(GAN):c.1398T>C (p.Val466=)
|
rs756485979
|
0.00001
|
NM_022041.4(GAN):c.1612+4A>G
|
rs376218401
|
0.00001
|
NM_022041.4(GAN):c.471G>A (p.Leu157=)
|
rs143704621
|
0.00001
|
NM_022041.4(GAN):c.572A>G (p.Asn191Ser)
|
rs139748896
|
0.00001
|
NM_022041.4(GAN):c.634-6C>T
|
rs199874705
|
0.00001
|
NM_022041.4(GAN):c.725G>A (p.Arg242Gln)
|
rs371906996
|
0.00001
|
NM_022041.4(GAN):c.801A>G (p.Lys267=)
|
rs746799355
|
0.00001
|
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)
|
rs759581558
|
0.00001
|
NM_022124.6(CDH23):c.*439C>T
|
rs140312023
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_024407.5(NDUFS7):c.*8G>A
|
rs756081375
|
0.00001
|
NM_024407.5(NDUFS7):c.*94G>A
|
rs1329105128
|
0.00001
|
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)
|
rs201222388
|
0.00001
|
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)
|
rs1193585808
|
0.00001
|
NM_024577.3(SH3TC2):c.-77C>T
|
rs1017906109
|
0.00001
|
NM_024577.4(SH3TC2):c.*1006C>T
|
rs886060185
|
0.00001
|
NM_024577.4(SH3TC2):c.*10079A>G
|
rs886060142
|
0.00001
|
NM_024577.4(SH3TC2):c.*10672A>C
|
rs1753463315
|
0.00001
|
NM_024577.4(SH3TC2):c.*1079T>C
|
rs1753632252
|
0.00001
|
NM_024577.4(SH3TC2):c.*10984G>T
|
rs868782614
|
0.00001
|
NM_024577.4(SH3TC2):c.*11054G>C
|
rs886060134
|
0.00001
|
NM_024577.4(SH3TC2):c.*11055T>C
|
rs886060133
|
0.00001
|
NM_024577.4(SH3TC2):c.*11593G>A
|
rs886060129
|
0.00001
|
NM_024577.4(SH3TC2):c.*12469T>A
|
rs886060122
|
0.00001
|
NM_024577.4(SH3TC2):c.*12637A>G
|
rs536941130
|
0.00001
|
NM_024577.4(SH3TC2):c.*13292G>T
|
rs1347035516
|
0.00001
|
NM_024577.4(SH3TC2):c.*14628C>T
|
rs886060118
|
0.00001
|
NM_024577.4(SH3TC2):c.*15339G>A
|
rs886060113
|
0.00001
|
NM_024577.4(SH3TC2):c.*15385A>G
|
rs540944260
|
0.00001
|
NM_024577.4(SH3TC2):c.*15680T>C
|
rs886060112
|
0.00001
|
NM_024577.4(SH3TC2):c.*16720T>G
|
rs1753361070
|
0.00001
|
NM_024577.4(SH3TC2):c.*16905T>G
|
rs886060105
|
0.00001
|
NM_024577.4(SH3TC2):c.*1787G>C
|
rs139566698
|
0.00001
|
NM_024577.4(SH3TC2):c.*17934T>C
|
rs1753339081
|
0.00001
|
NM_024577.4(SH3TC2):c.*18471A>G
|
rs1753330424
|
0.00001
|
NM_024577.4(SH3TC2):c.*20230G>T
|
rs761890589
|
0.00001
|
NM_024577.4(SH3TC2):c.*20553A>G
|
rs1419202542
|
0.00001
|
NM_024577.4(SH3TC2):c.*2065C>T
|
rs190638676
|
0.00001
|
NM_024577.4(SH3TC2):c.*20787G>A
|
rs76578570
|
0.00001
|
NM_024577.4(SH3TC2):c.*210C>A
|
rs886060192
|
0.00001
|
NM_024577.4(SH3TC2):c.*21532C>A
|
rs763141563
|
0.00001
|
NM_024577.4(SH3TC2):c.*2341A>G
|
rs531168193
|
0.00001
|
NM_024577.4(SH3TC2):c.*2624A>G
|
rs762855152
|
0.00001
|
NM_024577.4(SH3TC2):c.*281A>G
|
rs886060191
|
0.00001
|
NM_024577.4(SH3TC2):c.*2921G>A
|
rs1293808777
|
0.00001
|
NM_024577.4(SH3TC2):c.*3165G>A
|
rs886060179
|
0.00001
|
NM_024577.4(SH3TC2):c.*4920T>G
|
rs550230926
|
0.00001
|
NM_024577.4(SH3TC2):c.*5820A>G
|
rs1309341884
|
0.00001
|
NM_024577.4(SH3TC2):c.*5933G>A
|
rs886060165
|
0.00001
|
NM_024577.4(SH3TC2):c.*6302T>A
|
rs545169695
|
0.00001
|
NM_024577.4(SH3TC2):c.*651C>A
|
rs1454230507
|
0.00001
|
NM_024577.4(SH3TC2):c.*6836T>C
|
rs757138006
|
0.00001
|
NM_024577.4(SH3TC2):c.*8313G>A
|
rs770951592
|
0.00001
|
NM_024577.4(SH3TC2):c.*9122G>A
|
rs1430233185
|
0.00001
|
NM_024577.4(SH3TC2):c.*9445A>G
|
rs1422098391
|
0.00001
|
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159
|
0.00001
|
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321
|
0.00001
|
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578
|
0.00001
|
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394
|
0.00001
|
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192
|
0.00001
|
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556
|
0.00001
|
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)
|
rs776623792
|
0.00001
|
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875
|
0.00001
|
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455
|
0.00001
|
NM_030962.4(SBF2):c.*1255G>A
|
rs886048774
|
0.00001
|
NM_030962.4(SBF2):c.*1405T>C
|
rs997066238
|
0.00001
|
NM_030962.4(SBF2):c.*1686G>A
|
rs376521838
|
0.00001
|
NM_030962.4(SBF2):c.*19G>A
|
rs770446132
|
0.00001
|
NM_030962.4(SBF2):c.*418T>C
|
rs985803879
|
0.00001
|
NM_030962.4(SBF2):c.*730G>A
|
rs886048777
|
0.00001
|
NM_030962.4(SBF2):c.*731T>A
|
rs1239478451
|
0.00001
|
NM_030962.4(SBF2):c.-106C>T
|
rs886047578
|
0.00001
|
NM_030962.4(SBF2):c.-27C>T
|
rs1032915786
|
0.00001
|
NM_030962.4(SBF2):c.-49G>A
|
rs1476971148
|
0.00001
|
NM_030962.4(SBF2):c.-64C>T
|
rs1010047569
|
0.00001
|
NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter)
|
rs1565106242
|
0.00001
|
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln)
|
rs185968327
|
0.00001
|
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr)
|
rs775198025
|
0.00001
|
NM_030962.4(SBF2):c.2100+7G>A
|
rs370918433
|
0.00001
|
NM_030962.4(SBF2):c.2600C>T (p.Pro867Leu)
|
rs370198639
|
0.00001
|
NM_030962.4(SBF2):c.2610+11A>G
|
rs375912268
|
0.00001
|
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln)
|
rs755699993
|
0.00001
|
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys)
|
rs765001700
|
0.00001
|
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)
|
rs775360425
|
0.00001
|
NM_030962.4(SBF2):c.4931G>A (p.Ser1644Asn)
|
rs754078134
|
0.00001
|
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys)
|
rs79401259
|
0.00001
|
NM_030962.4(SBF2):c.5041C>T (p.Gln1681Ter)
|
rs1343702415
|
0.00001
|
NM_030962.4(SBF2):c.5232-7C>A
|
rs752774091
|
0.00001
|
NM_030962.4(SBF2):c.546G>T (p.Gln182His)
|
rs886047534
|
0.00001
|
NM_030962.4(SBF2):c.942A>G (p.Pro314=)
|
rs753903194
|
0.00001
|
NM_033305.3(VPS13A):c.*1078T>G
|
rs951051787
|
0.00001
|
NM_033305.3(VPS13A):c.*1140A>T
|
rs1360751714
|
0.00001
|
NM_033305.3(VPS13A):c.*663T>C
|
rs1172989781
|
0.00001
|
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg)
|
rs202123189
|
0.00001
|
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe)
|
rs1042881230
|
0.00001
|
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu)
|
rs1238647708
|
0.00001
|
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=)
|
rs749655544
|
0.00001
|
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp)
|
rs769146492
|
0.00001
|
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val)
|
rs368157358
|
0.00001
|
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=)
|
rs1274810899
|
0.00001
|
NM_033305.3(VPS13A):c.3813-6T>C
|
rs1057515654
|
0.00001
|
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu)
|
rs781501141
|
0.00001
|
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys)
|
rs1380006812
|
0.00001
|
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser)
|
rs72744294
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala)
|
rs377532527
|
0.00001
|
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val)
|
rs1016550070
|
0.00001
|
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn)
|
rs1034458059
|
0.00001
|
NM_033305.3(VPS13A):c.587A>G (p.His196Arg)
|
rs750690177
|
0.00001
|
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys)
|
rs754391863
|
0.00001
|
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe)
|
rs1830592063
|
0.00001
|
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys)
|
rs1168343737
|
0.00001
|
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg)
|
rs771133301
|
0.00001
|
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=)
|
rs192942248
|
0.00001
|
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His)
|
rs766585218
|
0.00001
|
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His)
|
rs762985818
|
0.00001
|
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg)
|
rs558287069
|
0.00001
|
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu)
|
rs757219762
|
0.00001
|
NM_033305.3(VPS13A):c.8668-3T>C
|
rs774310931
|
0.00001
|
NM_033305.3(VPS13A):c.9234T>C (p.His3078=)
|
rs766370355
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_078470.6(COX15):c.*1474C>T
|
rs886046608
|
0.00001
|
NM_078470.6(COX15):c.*2701A>G
|
rs886046602
|
0.00001
|
NM_078470.6(COX15):c.161G>A (p.Gly54Glu)
|
rs781108007
|
0.00001
|
NM_078470.6(COX15):c.293C>T (p.Ser98Leu)
|
rs1315877896
|
0.00001
|
NM_078470.6(COX15):c.495G>T (p.Leu165=)
|
rs2036978379
|
0.00001
|
NM_078470.6(COX15):c.832+9C>T
|
rs777349150
|
0.00001
|
NM_133259.4(LRPPRC):c.*1370G>A
|
rs1319087266
|
0.00001
|
NM_133259.4(LRPPRC):c.*1719G>A
|
rs1670288640
|
0.00001
|
NM_133259.4(LRPPRC):c.*2277A>G
|
rs886056041
|
0.00001
|
NM_133259.4(LRPPRC):c.*420C>T
|
rs1354819175
|
0.00001
|
NM_133259.4(LRPPRC):c.*534G>T
|
rs553327890
|
0.00001
|
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=)
|
rs886056059
|
0.00001
|
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys)
|
rs762224854
|
0.00001
|
NM_133259.4(LRPPRC):c.1921-7A>G
|
rs779696239
|
0.00001
|
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His)
|
rs187274438
|
0.00001
|
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)
|
rs886056056
|
0.00001
|
NM_133259.4(LRPPRC):c.3364+6T>A
|
rs543620356
|
0.00001
|
NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr)
|
rs911047642
|
0.00001
|
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)
|
rs140482502
|
0.00001
|
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=)
|
rs370683872
|
0.00001
|
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser)
|
rs886056054
|
0.00001
|
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val)
|
rs886056065
|
0.00001
|
NM_153818.1(PEX10):c.-77G>T
|
rs1257096968
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)
|
rs773988847
|
0.00001
|
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)
|
rs886060726
|
0.00001
|
NM_181882.3(PRX):c.-100+10C>T
|
rs2079541059
|
0.00001
|
NM_181882.3(PRX):c.-198-14C>T
|
rs886054442
|
0.00001
|
NM_181882.3(PRX):c.1215C>T (p.Pro405=)
|
rs377184301
|
0.00001
|
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
|
rs1389523539
|
0.00001
|
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
|
rs1340076007
|
0.00001
|
NM_181882.3(PRX):c.2536C>T (p.His846Tyr)
|
rs765595266
|
0.00001
|
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala)
|
rs762157790
|
0.00001
|
NM_181882.3(PRX):c.3849A>G (p.Pro1283=)
|
rs757247849
|
0.00001
|
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)
|
rs781159482
|
0.00001
|
NM_181882.3(PRX):c.4109G>A (p.Arg1370His)
|
rs756687548
|
0.00001
|
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
|
rs944160754
|
0.00001
|
NM_181882.3(PRX):c.732G>A (p.Ala244=)
|
rs769735682
|
0.00001
|
NM_181882.3(PRX):c.825C>T (p.Leu275=)
|
rs753268672
|
0.00001
|
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
|
rs577197549
|
0.00001
|
NM_198252.3(GSN):c.*194G>A
|
rs886063412
|
0.00001
|
NM_198252.3(GSN):c.-9-2021G>A
|
rs886063405
|
0.00001
|
NM_198252.3(GSN):c.1009C>T (p.Leu337=)
|
rs528161256
|
0.00001
|
NM_198252.3(GSN):c.123C>T (p.Gly41=)
|
rs774617795
|
0.00001
|
NM_198252.3(GSN):c.163G>A (p.Gly55Arg)
|
rs556563870
|
0.00001
|
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr)
|
rs777955781
|
0.00001
|
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr)
|
rs777767455
|
0.00001
|
NM_198252.3(GSN):c.1942A>G (p.Met648Val)
|
rs886063406
|
0.00001
|
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln)
|
rs770023727
|
0.00001
|
NM_000081.4(LYST):c.*1211G>A
|
|
|
NM_000081.4(LYST):c.*1275T>C
|
|
|
NM_000081.4(LYST):c.*1295T>C
|
|
|
NM_000081.4(LYST):c.*1356G>T
|
|
|
NM_000081.4(LYST):c.*1379G>C
|
|
|
NM_000081.4(LYST):c.*1428T>G
|
|
|
NM_000081.4(LYST):c.*1438C>T
|
|
|
NM_000081.4(LYST):c.*1499G>T
|
|
|
NM_000081.4(LYST):c.*1533G>A
|
|
|
NM_000081.4(LYST):c.*1723A>G
|
|
|
NM_000081.4(LYST):c.*1792A>G
|
|
|
NM_000081.4(LYST):c.*1831A>C
|
|
|
NM_000081.4(LYST):c.*1861C>A
|
|
|
NM_000081.4(LYST):c.*191T>C
|
|
|
NM_000081.4(LYST):c.*246C>T
|
|
|
NM_000081.4(LYST):c.*247G>T
|
|
|
NM_000081.4(LYST):c.*275A>T
|
|
|
NM_000081.4(LYST):c.*319C>G
|
|
|
NM_000081.4(LYST):c.*329A>G
|
|
|
NM_000081.4(LYST):c.*446T>C
|
|
|
NM_000081.4(LYST):c.*519C>T
|
|
|
NM_000081.4(LYST):c.*5G>A
|
|
|
NM_000081.4(LYST):c.*685G>T
|
|
|
NM_000081.4(LYST):c.*694T>C
|
|
|
NM_000081.4(LYST):c.*712T>C
|
|
|
NM_000081.4(LYST):c.*725G>A
|
|
|
NM_000081.4(LYST):c.*809A>G
|
|
|
NM_000081.4(LYST):c.*824A>G
|
|
|
NM_000081.4(LYST):c.*831A>G
|
|
|
NM_000081.4(LYST):c.*873G>C
|
|
|
NM_000081.4(LYST):c.*891G>C
|
|
|
NM_000081.4(LYST):c.*907G>A
|
|
|
NM_000081.4(LYST):c.*921C>T
|
|
|
NM_000081.4(LYST):c.*94A>G
|
|
|
NM_000081.4(LYST):c.*962G>A
|
|
|
NM_000081.4(LYST):c.-131G>C
|
|
|
NM_000081.4(LYST):c.-134G>A
|
|
|
NM_000081.4(LYST):c.-134G>C
|
|
|
NM_000081.4(LYST):c.-136G>A
|
|
|
NM_000081.4(LYST):c.-139G>A
|
|
|
NM_000081.4(LYST):c.-140G>C
|
|
|
NM_000081.4(LYST):c.-142C>T
|
|
|
NM_000081.4(LYST):c.-7-14T>C
|
|
|
NM_000081.4(LYST):c.-97-13dup
|
|
|
NM_000081.4(LYST):c.-97-9T>G
|
|
|
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
|
|
|
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
|
|
|
NM_000081.4(LYST):c.10414T>C (p.Tyr3472His)
|
|
|
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
|
|
|
NM_000081.4(LYST):c.10657A>G (p.Ser3553Gly)
|
|
|
NM_000081.4(LYST):c.10707T>C (p.Thr3569=)
|
|
|
NM_000081.4(LYST):c.10733G>T (p.Cys3578Phe)
|
|
|
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
|
|
|
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
|
|
|
NM_000081.4(LYST):c.10940+11A>T
|
|
|
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
|
|
|
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
|
|
|
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
|
|
|
NM_000081.4(LYST):c.11196-15T>G
|
|
|
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
|
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
NM_000081.4(LYST):c.11268-6_11268-5del
|
rs36014994
|
|
NM_000081.4(LYST):c.1275C>G (p.Tyr425Ter)
|
|
|
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
|
|
|
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
|
|
|
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
|
|
|
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
|
|
|
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
|
|
|
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
|
|
|
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
|
|
|
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
|
|
|
NM_000081.4(LYST):c.193-3T>C
|
|
|
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
|
|
|
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
|
|
|
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
|
|
|
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
|
|
|
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
|
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
|
|
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
|
|
|
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
|
|
|
NM_000081.4(LYST):c.244C>T (p.Leu82=)
|
|
|
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
|
|
|
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
|
|
|
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
|
|
|
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
|
|
|
NM_000081.4(LYST):c.2687A>G (p.Asn896Ser)
|
|
|
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
|
|
|
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
|
|
|
NM_000081.4(LYST):c.280A>G (p.Thr94Ala)
|
|
|
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
|
|
|
NM_000081.4(LYST):c.3160A>G (p.Ser1054Gly)
|
|
|
NM_000081.4(LYST):c.3167A>C (p.Lys1056Thr)
|
|
|
NM_000081.4(LYST):c.3278G>A (p.Ser1093Asn)
|
|
|
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
|
|
|
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
|
|
|
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
|
|
|
NM_000081.4(LYST):c.3712+12T>C
|
|
|
NM_000081.4(LYST):c.372A>G (p.Leu124=)
|
|
|
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
|
|
|
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
|
|
|
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
|
|
|
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
|
|
|
NM_000081.4(LYST):c.5023+14G>A
|
|
|
NM_000081.4(LYST):c.5071C>T (p.Pro1691Ser)
|
|
|
NM_000081.4(LYST):c.5461-14A>T
|
|
|
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
|
|
|
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
|
|
|
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
|
|
|
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
|
|
|
NM_000081.4(LYST):c.600C>T (p.His200=)
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
|
|
NM_000081.4(LYST):c.6122-13del
|
rs201404906
|
|
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
|
|
|
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
|
|
|
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
|
|
|
NM_000081.4(LYST):c.643C>T (p.Pro215Ser)
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
|
|
|
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
|
|
|
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
|
|
|
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
|
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
|
|
|
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
|
|
|
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
|
|
|
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
|
|
|
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
|
|
|
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
|
|
|
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
|
|
|
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
|
|
|
NM_000081.4(LYST):c.7506A>C (p.Gln2502His)
|
|
|
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
|
|
|
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
|
|
|
NM_000081.4(LYST):c.8152-8G>A
|
|
|
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
|
|
|
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
|
|
|
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
|
|
|
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
|
|
|
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
|
|
|
NM_000081.4(LYST):c.8535+7C>T
|
|
|
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
|
|
|
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
|
|
|
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
|
|
|
NM_000081.4(LYST):c.8801+15G>C
|
|
|
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
|
|
|
NM_000081.4(LYST):c.9162+11G>A
|
|
|
NM_000081.4(LYST):c.9162+15A>G
|
|
|
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
|
|
|
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
|
|
|
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
|
|
|
NM_000081.4(LYST):c.9542A>G (p.Asn3181Ser)
|
|
|
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
|
|
|
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
|
|
|
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
|
|
|
NM_000081.4(LYST):c.9969C>T (p.His3323=)
|
|
|
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
|
|
|
NM_000108.5(DLD):c.*1027T>G
|
rs372098056
|
|
NM_000108.5(DLD):c.*1088A>G
|
rs886061912
|
|
NM_000108.5(DLD):c.*1231A>G
|
rs2032385167
|
|
NM_000108.5(DLD):c.*167T>C
|
rs886061909
|
|
NM_000108.5(DLD):c.*374G>T
|
rs576270082
|
|
NM_000108.5(DLD):c.*470G>A
|
rs111619940
|
|
NM_000108.5(DLD):c.*470G>T
|
rs111619940
|
|
NM_000108.5(DLD):c.*498T>G
|
rs886061911
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
NM_000108.5(DLD):c.*947G>T
|
rs7777259
|
|
NM_000108.5(DLD):c.-10C>T
|
rs1269120569
|
|
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
|
rs2032312825
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
|
rs2031981415
|
|
NM_000143.3(FH):c.-48G>T
|
rs886046320
|
|
NM_000143.3(FH):c.-57C>G
|
rs201589544
|
|
NM_000143.4(FH):c.-14G>C
|
rs543556537
|
|
NM_000143.4(FH):c.1237-14_1237-9dup
|
rs779985493
|
|
NM_000143.4(FH):c.1237-50TC[17]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[18]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[23]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[24]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[25]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-5_1237-4insCTCT
|
rs886046316
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT
|
rs1553340717
|
|
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)
|
rs201005880
|
|
NM_000143.4(FH):c.1517T>G (p.Met506Arg)
|
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.574C>T (p.Pro192Ser)
|
rs1573883345
|
|
NM_000143.4(FH):c.905-5T>A
|
rs886046318
|
|
NM_000153.3(GALC):c.-31delC
|
rs886050869
|
|
NM_000153.3(GALC):c.-73G>A
|
rs1887315658
|
|
NM_000153.3(GALC):c.-85T>A
|
rs886050870
|
|
NM_000153.4(GALC):c.*1584G>A
|
rs893698376
|
|
NM_000153.4(GALC):c.*1598G>A
|
rs574189020
|
|
NM_000153.4(GALC):c.*1625A>G
|
rs188934153
|
|
NM_000153.4(GALC):c.*363A>G
|
rs539617222
|
|
NM_000153.4(GALC):c.*366A>G
|
rs1884480659
|
|
NM_000153.4(GALC):c.*375A>G
|
rs1884480331
|
|
NM_000153.4(GALC):c.*389G>T
|
rs1884479809
|
|
NM_000153.4(GALC):c.*455A>G
|
rs1884476134
|
|
NM_000153.4(GALC):c.*486C>G
|
rs1280004708
|
|
NM_000153.4(GALC):c.*499T>C
|
rs1226531123
|
|
NM_000153.4(GALC):c.*591G>A
|
rs886050863
|
|
NM_000153.4(GALC):c.*877T>A
|
rs185181747
|
|
NM_000153.4(GALC):c.*994C>A
|
rs1884455084
|
|
NM_000153.4(GALC):c.*999T>C
|
rs1267707327
|
|
NM_000153.4(GALC):c.-68C>T
|
rs369469562
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000153.4(GALC):c.136G>C (p.Asp46His)
|
rs751975987
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala)
|
rs886050864
|
|
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser)
|
rs756141815
|
|
NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
|
rs1361755363
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.3G>T (p.Met1Ile)
|
rs758685128
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.442+4A>G
|
rs753169234
|
|
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
|
|
|
NM_000153.4(GALC):c.583-11T>C
|
rs886050865
|
|
NM_000153.4(GALC):c.64G>C (p.Gly22Arg)
|
rs768031195
|
|
NM_000153.4(GALC):c.752+8A>C
|
rs750292340
|
|
NM_000158.3(GBE1):c.-195G>T
|
rs886058904
|
|
NM_000158.4(GBE1):c.*388T>A
|
rs1702416693
|
|
NM_000158.4(GBE1):c.*44T>A
|
rs1702420526
|
|
NM_000158.4(GBE1):c.*494A>C
|
rs145934828
|
|
NM_000158.4(GBE1):c.*494A>T
|
rs145934828
|
|
NM_000158.4(GBE1):c.*523T>A
|
rs113749146
|
|
NM_000158.4(GBE1):c.-101C>T
|
rs886058903
|
|
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
|
rs1703917500
|
|
NM_000158.4(GBE1):c.144-7T>C
|
rs886058902
|
|
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
|
rs771241994
|
|
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
|
rs1703085718
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys)
|
rs886058901
|
|
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
|
rs1553684545
|
|
NM_000166.6(GJB1):c.*50G>C
|
rs2092547330
|
|
NM_000166.6(GJB1):c.-102G>A
|
rs753207004
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158
|
|
NM_000166.6(GJB1):c.463C>A (p.Leu155Met)
|
rs1057515984
|
|
NM_000182.4(HADHA):c.-37T>C
|
rs528818728
|
|
NM_000182.5(HADHA):c.*103A>T
|
rs1360388686
|
|
NM_000182.5(HADHA):c.*202G>A
|
rs7260
|
|
NM_000182.5(HADHA):c.*373GT[1]
|
rs886055861
|
|
NM_000182.5(HADHA):c.*389C>G
|
rs886055860
|
|
NM_000182.5(HADHA):c.*458TG[3]
|
rs146500488
|
|
NM_000182.5(HADHA):c.*46G>A
|
rs367911534
|
|
NM_000182.5(HADHA):c.*489G>A
|
rs886055857
|
|
NM_000182.5(HADHA):c.*494G>T
|
rs886055856
|
|
NM_000182.5(HADHA):c.*59C>T
|
rs1669485295
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
NM_000182.5(HADHA):c.454-13C>T
|
rs367636661
|
|
NM_000182.5(HADHA):c.676+6T>C
|
rs886055863
|
|
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)
|
rs886055862
|
|
NM_000217.3(KCNA1):c.*1236T>G
|
rs1232377701
|
|
NM_000217.3(KCNA1):c.*1832G>C
|
rs1947373820
|
|
NM_000217.3(KCNA1):c.*1865C>G
|
rs1947374009
|
|
NM_000217.3(KCNA1):c.*1977C>T
|
rs1056300520
|
|
NM_000217.3(KCNA1):c.*2286A>C
|
rs759796830
|
|
NM_000217.3(KCNA1):c.*2333G>A
|
rs2109420
|
|
NM_000217.3(KCNA1):c.*2734G>A
|
rs115244229
|
|
NM_000217.3(KCNA1):c.*2758G>A
|
rs886049525
|
|
NM_000217.3(KCNA1):c.*3166G>C
|
rs1947383909
|
|
NM_000217.3(KCNA1):c.*3176A>T
|
rs181233186
|
|
NM_000217.3(KCNA1):c.*3225G>A
|
rs777765225
|
|
NM_000217.3(KCNA1):c.*3225G>C
|
rs777765225
|
|
NM_000217.3(KCNA1):c.*3316T>C
|
rs886049529
|
|
NM_000217.3(KCNA1):c.*3495G>C
|
rs886049530
|
|
NM_000217.3(KCNA1):c.*3728T>G
|
rs1477699046
|
|
NM_000217.3(KCNA1):c.*4152A>G
|
rs886049531
|
|
NM_000217.3(KCNA1):c.*4177C>T
|
rs886049532
|
|
NM_000217.3(KCNA1):c.*4432T>C
|
rs1947391540
|
|
NM_000217.3(KCNA1):c.*4477A>G
|
rs191491257
|
|
NM_000217.3(KCNA1):c.*4718C>T
|
rs886049536
|
|
NM_000217.3(KCNA1):c.*4957C>A
|
rs549454829
|
|
NM_000217.3(KCNA1):c.*4972C>T
|
rs1291672801
|
|
NM_000217.3(KCNA1):c.*5106C>G
|
rs886049538
|
|
NM_000217.3(KCNA1):c.*5136A>G
|
rs886049540
|
|
NM_000217.3(KCNA1):c.*5279C>T
|
rs886049542
|
|
NM_000217.3(KCNA1):c.*804C>A
|
rs886049517
|
|
NM_000217.3(KCNA1):c.-1034C>T
|
rs886049499
|
|
NM_000217.3(KCNA1):c.-1040G>T
|
rs886049498
|
|
NM_000217.3(KCNA1):c.-143C>T
|
rs1161594342
|
|
NM_000217.3(KCNA1):c.-157T>A
|
rs534276633
|
|
NM_000217.3(KCNA1):c.-196C>T
|
rs1947348004
|
|
NM_000217.3(KCNA1):c.-230C>G
|
rs886049507
|
|
NM_000217.3(KCNA1):c.-27C>T
|
rs886049508
|
|
NM_000217.3(KCNA1):c.-482G>C
|
rs886049505
|
|
NM_000217.3(KCNA1):c.-487A>G
|
rs886049504
|
|
NM_000217.3(KCNA1):c.-530A>G
|
rs1947345310
|
|
NM_000217.3(KCNA1):c.-628C>G
|
rs947561515
|
|
NM_000217.3(KCNA1):c.-684G>T
|
rs886049502
|
|
NM_000217.3(KCNA1):c.-968C>T
|
rs886049500
|
|
NM_000217.3(KCNA1):c.212G>A (p.Arg71His)
|
rs1947351910
|
|
NM_000217.3(KCNA1):c.274A>G (p.Ile92Val)
|
rs962399769
|
|
NM_000217.3(KCNA1):c.317T>C (p.Val106Ala)
|
rs886049510
|
|
NM_000217.3(KCNA1):c.412A>C (p.Lys138Gln)
|
rs886049511
|
|
NM_000217.3(KCNA1):c.446A>G (p.Tyr149Cys)
|
rs1947353699
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000274.4(OAT):c.*275A>G
|
rs886046808
|
|
NM_000274.4(OAT):c.-30+11G>A
|
rs886046811
|
|
NM_000274.4(OAT):c.-59G>C
|
rs144950523
|
|
NM_000274.4(OAT):c.-66A>G
|
rs1387021384
|
|
NM_000274.4(OAT):c.110C>T (p.Pro37Leu)
|
rs747742850
|
|
NM_000274.4(OAT):c.1138A>G (p.Ile380Val)
|
rs545710763
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu)
|
rs1434415037
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.494A>C (p.Lys165Thr)
|
rs1951665737
|
|
NM_000274.4(OAT):c.521-15_521-12del
|
rs376636397
|
|
NM_000274.4(OAT):c.533G>C (p.Trp178Ser)
|
rs267606923
|
|
NM_000274.4(OAT):c.604C>A (p.Pro202Thr)
|
rs868567649
|
|
NM_000274.4(OAT):c.648+13C>A
|
rs779470531
|
|
NM_000274.4(OAT):c.911T>A (p.Val304Glu)
|
rs886046810
|
|
NM_000284.4(PDHA1):c.*1013C>A
|
rs1042456
|
|
NM_000284.4(PDHA1):c.*110C>T
|
rs709610
|
|
NM_000284.4(PDHA1):c.*1624T>C
|
rs2063283398
|
|
NM_000284.4(PDHA1):c.*198G>A
|
rs1003909173
|
|
NM_000284.4(PDHA1):c.*525C>G
|
rs778207227
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
|
NM_000286.3(PEX12):c.*474A>G
|
rs886052828
|
|
NM_000286.3(PEX12):c.*520A>G
|
rs1298505668
|
|
NM_000286.3(PEX12):c.*550_*552del
|
rs147182821
|
|
NM_000286.3(PEX12):c.*569_*570del
|
rs3031851
|
|
NM_000286.3(PEX12):c.*767CTAAT[1]
|
rs886052825
|
|
NM_000286.3(PEX12):c.*778G>A
|
rs886052824
|
|
NM_000286.3(PEX12):c.*783A>C
|
rs571975070
|
|
NM_000286.3(PEX12):c.*880_*883del
|
rs35050283
|
|
NM_000286.3(PEX12):c.-145C>T
|
rs886052832
|
|
NM_000286.3(PEX12):c.-340G>T
|
rs886052833
|
|
NM_000286.3(PEX12):c.-360G>A
|
rs2072800546
|
|
NM_000286.3(PEX12):c.353T>C (p.Met118Thr)
|
rs879075660
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000287.4(PEX6):c.*368G>A
|
rs866465109
|
|
NM_000287.4(PEX6):c.*407T>G
|
rs886061409
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
NM_000287.4(PEX6):c.106C>A (p.Leu36Met)
|
rs758416830
|
|
NM_000287.4(PEX6):c.1092A>G (p.Gln364=)
|
rs1241222298
|
|
NM_000287.4(PEX6):c.1110A>G (p.Gly370=)
|
rs886061411
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu)
|
rs1769951744
|
|
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)
|
rs61752140
|
|
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)
|
rs61752141
|
|
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)
|
rs61752141
|
|
NM_000287.4(PEX6):c.2471+5G>T
|
rs1213308057
|
|
NM_000287.4(PEX6):c.2601G>T (p.Leu867=)
|
rs1769712635
|
|
NM_000287.4(PEX6):c.2697A>G (p.Val899=)
|
rs892510772
|
|
NM_000287.4(PEX6):c.2907G>C (p.Arg969=)
|
rs145243129
|
|
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)
|
rs774813175
|
|
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro)
|
rs1254025750
|
|
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)
|
rs918969564
|
|
NM_000287.4(PEX6):c.681G>A (p.Gln227=)
|
rs1770406319
|
|
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr)
|
rs886061412
|
|
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)
|
rs1268867658
|
|
NM_000288.4(PEX7):c.*124A>G
|
rs112796869
|
|
NM_000288.4(PEX7):c.*305C>A
|
rs567568009
|
|
NM_000288.4(PEX7):c.*305C>T
|
rs567568009
|
|
NM_000288.4(PEX7):c.*367T>C
|
rs886061124
|
|
NM_000288.4(PEX7):c.-18C>T
|
rs991168664
|
|
NM_000288.4(PEX7):c.-35G>A
|
rs886061116
|
|
NM_000288.4(PEX7):c.-3G>A
|
rs886061117
|
|
NM_000288.4(PEX7):c.-65A>T
|
rs190537612
|
|
NM_000288.4(PEX7):c.-69C>A
|
rs528948146
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)
|
rs886061121
|
|
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
|
rs1452611618
|
|
NM_000304.4(PMP22):c.*105CAAAC[2]
|
rs112829799
|
|
NM_000304.4(PMP22):c.*376C>T
|
rs575964802
|
|
NM_000304.4(PMP22):c.*525CT[1]
|
rs71699667
|
|
NM_000304.4(PMP22):c.*596G>T
|
rs1205135654
|
|
NM_000304.4(PMP22):c.*63A>C
|
rs1906244590
|
|
NM_000304.4(PMP22):c.*818T>C
|
rs529200588
|
|
NM_000304.4(PMP22):c.*911C>T
|
rs1015965333
|
|
NM_000304.4(PMP22):c.*961C>G
|
rs760879114
|
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000318.2(PEX2):c.-273G>A
|
rs367767138
|
|
NM_000318.2(PEX2):c.-278C>G
|
rs886063142
|
|
NM_000318.2(PEX2):c.-335C>T
|
rs886063143
|
|
NM_000318.2(PEX2):c.-369C>T
|
rs886063145
|
|
NM_000318.3(PEX2):c.*103C>G
|
rs529963492
|
|
NM_000318.3(PEX2):c.*1085T>A
|
rs886063132
|
|
NM_000318.3(PEX2):c.*1319A>T
|
rs912151931
|
|
NM_000318.3(PEX2):c.*1466ATT[1]
|
rs552746754
|
|
NM_000318.3(PEX2):c.*1606T>G
|
rs1276104967
|
|
NM_000318.3(PEX2):c.*1811C>T
|
rs886063128
|
|
NM_000318.3(PEX2):c.*2007A>T
|
rs558850392
|
|
NM_000318.3(PEX2):c.*2404A>G
|
rs1806798109
|
|
NM_000318.3(PEX2):c.*2430T>C
|
rs886063126
|
|
NM_000318.3(PEX2):c.*2466A>G
|
rs886063125
|
|
NM_000318.3(PEX2):c.*2700G>T
|
rs1806788065
|
|
NM_000318.3(PEX2):c.*277_*279del
|
rs886063138
|
|
NM_000318.3(PEX2):c.*37C>T
|
rs886063140
|
|
NM_000318.3(PEX2):c.*419T>G
|
rs1806878211
|
|
NM_000318.3(PEX2):c.*645G>T
|
rs1806867628
|
|
NM_000318.3(PEX2):c.*780T>A
|
rs1806859817
|
|
NM_000318.3(PEX2):c.*819A>C
|
rs886063135
|
|
NM_000318.3(PEX2):c.*913C>T
|
rs886063134
|
|
NM_000318.3(PEX2):c.-13del
|
rs146402705
|
|
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)
|
rs1427212561
|
|
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu)
|
rs549242503
|
|
NM_000370.3(TTPA):c.*1135T>C
|
rs886063062
|
|
NM_000370.3(TTPA):c.*1164A>T
|
rs886063061
|
|
NM_000370.3(TTPA):c.*1176ATA[1]
|
rs548084272
|
|
NM_000370.3(TTPA):c.*1247A>G
|
rs1277245038
|
|
NM_000370.3(TTPA):c.*1394A>G
|
rs886063060
|
|
NM_000370.3(TTPA):c.*1424C>T
|
rs577649057
|
|
NM_000370.3(TTPA):c.*1469ATAA[3]
|
rs773557348
|
|
NM_000370.3(TTPA):c.*1598C>T
|
rs886063059
|
|
NM_000370.3(TTPA):c.*265T>C
|
rs1805296752
|
|
NM_000370.3(TTPA):c.*452T>C
|
rs886063066
|
|
NM_000370.3(TTPA):c.*496T>G
|
rs565583075
|
|
NM_000370.3(TTPA):c.*576_*578del
|
rs10543235
|
|
NM_000370.3(TTPA):c.*595C>G
|
rs760669854
|
|
NM_000370.3(TTPA):c.*817G>A
|
rs975457415
|
|
NM_000370.3(TTPA):c.*932G>A
|
rs547975805
|
|
NM_000370.3(TTPA):c.144C>G (p.Thr48=)
|
rs1805743504
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile)
|
rs1233515069
|
|
NM_000371.3(TTR):c.-102G>T
|
rs967658213
|
|
NM_000371.4(TTR):c.11_13dup (p.His4dup)
|
rs747545126
|
|
NM_000371.4(TTR):c.200+1G>A
|
rs1567945731
|
|
NM_000371.4(TTR):c.239C>G (p.Thr80Ser)
|
rs1254341785
|
|
NM_000371.4(TTR):c.382G>A (p.Ala128Thr)
|
rs2073528679
|
|
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del)
|
rs886053745
|
|
NM_000384.3(APOB):c.12088-23dup
|
rs751121092
|
|
NM_000384.3(APOB):c.2917C>A (p.Leu973Met)
|
rs886055592
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
|
|
|
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile)
|
rs768221258
|
|
NM_000399.5(EGR2):c.*1028A>G
|
rs886047086
|
|
NM_000399.5(EGR2):c.*1080G>A
|
rs886047085
|
|
NM_000399.5(EGR2):c.*145T>A
|
rs886047091
|
|
NM_000399.5(EGR2):c.*150A>G
|
rs1055794746
|
|
NM_000399.5(EGR2):c.*230G>T
|
rs1842147977
|
|
NM_000399.5(EGR2):c.*456G>A
|
rs886047090
|
|
NM_000399.5(EGR2):c.*814_*816del
|
rs886047088
|
|
NM_000399.5(EGR2):c.-293ACTG[1]
|
rs886047096
|
|
NM_000399.5(EGR2):c.-299G>A
|
rs1842269401
|
|
NM_000399.5(EGR2):c.-64A>C
|
rs1842261380
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)
|
rs886047092
|
|
NM_000466.3(PEX1):c.*241T>C
|
rs886062499
|
|
NM_000466.3(PEX1):c.-74A>G
|
rs886062510
|
|
NM_000466.3(PEX1):c.-82C>G
|
rs1169565016
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)
|
rs200991412
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs)
|
rs1562857333
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro)
|
rs767182250
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala)
|
rs745667444
|
|
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile)
|
rs1791529840
|
|
NM_000466.3(PEX1):c.3030+12A>G
|
rs1163936793
|
|
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val)
|
rs886062503
|
|
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala)
|
rs182452430
|
|
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=)
|
rs886062502
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly)
|
rs886062507
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
NM_000487.6(ARSA):c.*1012C>T
|
rs886057650
|
|
NM_000487.6(ARSA):c.*1049T>A
|
rs868511268
|
|
NM_000487.6(ARSA):c.*1062dup
|
rs763817529
|
|
NM_000487.6(ARSA):c.*1073G>T
|
rs185955658
|
|
NM_000487.6(ARSA):c.*1157G>T
|
rs775298785
|
|
NM_000487.6(ARSA):c.*1206G>T
|
rs867069706
|
|
NM_000487.6(ARSA):c.*1238T>G
|
rs6010033
|
|
NM_000487.6(ARSA):c.*125C>G
|
rs886057656
|
|
NM_000487.6(ARSA):c.*1267C>T
|
rs886057648
|
|
NM_000487.6(ARSA):c.*127A>T
|
rs977218325
|
|
NM_000487.6(ARSA):c.*130C>A
|
rs886057655
|
|
NM_000487.6(ARSA):c.*1351C>G
|
rs131717
|
|
NM_000487.6(ARSA):c.*1372G>A
|
rs190478606
|
|
NM_000487.6(ARSA):c.*1372G>T
|
rs190478606
|
|
NM_000487.6(ARSA):c.*1404dup
|
rs746677403
|
|
NM_000487.6(ARSA):c.*1475C>G
|
rs184515588
|
|
NM_000487.6(ARSA):c.*1477C>T
|
rs2082619608
|
|
NM_000487.6(ARSA):c.*1576A>C
|
rs886057647
|
|
NM_000487.6(ARSA):c.*1617G>A
|
rs886057646
|
|
NM_000487.6(ARSA):c.*1627G>C
|
rs886057645
|
|
NM_000487.6(ARSA):c.*165G>A
|
rs144366706
|
|
NM_000487.6(ARSA):c.*1825C>T
|
rs2082615571
|
|
NM_000487.6(ARSA):c.*2023G>C
|
rs886057642
|
|
NM_000487.6(ARSA):c.*2065C>T
|
rs776085194
|
|
NM_000487.6(ARSA):c.*2088CCT[1]
|
rs886057641
|
|
NM_000487.6(ARSA):c.*2134C>A
|
rs911625206
|
|
NM_000487.6(ARSA):c.*2205A>T
|
rs886057640
|
|
NM_000487.6(ARSA):c.*2283A>G
|
rs2082610056
|
|
NM_000487.6(ARSA):c.*389A>G
|
rs547501508
|
|
NM_000487.6(ARSA):c.*413T>G
|
rs986551305
|
|
NM_000487.6(ARSA):c.*624G>T
|
rs2082632282
|
|
NM_000487.6(ARSA):c.*643T>C
|
rs886057653
|
|
NM_000487.6(ARSA):c.*777C>G
|
rs115593886
|
|
NM_000487.6(ARSA):c.*874T>C
|
rs886057651
|
|
NM_000487.6(ARSA):c.-20G>C
|
rs886057659
|
|
NM_000487.6(ARSA):c.-343C>T
|
rs1028447908
|
|
NM_000487.6(ARSA):c.-362G>C
|
rs886057662
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1210+13C>T
|
rs6151426
|
|
NM_000487.6(ARSA):c.1434G>C (p.Gln478His)
|
rs769169905
|
|
NM_000487.6(ARSA):c.151C>G (p.Leu51Val)
|
rs1348625953
|
|
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln)
|
rs759295985
|
|
NM_000487.6(ARSA):c.495G>A (p.Pro165=)
|
rs145299072
|
|
NM_000487.6(ARSA):c.778G>T (p.Val260Leu)
|
rs2082674602
|
|
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)
|
rs199476387
|
|
NM_000520.6(HEXA):c.*200T>C
|
rs886051461
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000521.3(HEXB):c.-63G>A
|
rs1748827834
|
|
NM_000521.4(HEXB):c.*82_*83del
|
rs56312827
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.669G>A (p.Leu223=)
|
rs773385077
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)
|
rs886060750
|
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394
|
|
NM_000530.8(MPZ):c.*360C>G
|
rs6682046
|
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473
|
|
NM_000530.8(MPZ):c.*901GA[7]
|
rs149030537
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608
|
|
NM_000530.8(MPZ):c.-49C>A
|
rs750777955
|
|
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
|
rs121913602
|
|
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
|
rs1670257548
|
|
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)
|
rs886045475
|
|
NM_000784.3(CYP27A1):c.-182C>T
|
rs886055628
|
|
NM_000784.3(CYP27A1):c.-357dup
|
rs397795841
|
|
NM_000784.4(CYP27A1):c.*153G>C
|
rs886055631
|
|
NM_000784.4(CYP27A1):c.*209G>A
|
rs540140393
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
|
rs1943690611
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.447-3C>T
|
rs770217459
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
|
rs1943740072
|
|
NM_000925.4(PDHB):c.*160A>G
|
rs2062883381
|
|
NM_000925.4(PDHB):c.*328A>G
|
rs2062880125
|
|
NM_000925.4(PDHB):c.*366_*367insAA
|
rs886058775
|
|
NM_000925.4(PDHB):c.*92C>A
|
rs4228
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser)
|
rs886058778
|
|
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys)
|
rs779577082
|
|
NM_000925.4(PDHB):c.793-19_793-14del
|
rs759146810
|
|
NM_000925.4(PDHB):c.93G>T (p.Leu31=)
|
rs886058780
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)
|
|
|
NM_001005361.3(DNM2):c.*166G>A
|
rs886054145
|
|
NM_001005361.3(DNM2):c.*22C>T
|
rs531170486
|
|
NM_001005361.3(DNM2):c.*35C>G
|
rs199700849
|
|
NM_001005361.3(DNM2):c.*379C>T
|
rs953057550
|
|
NM_001005361.3(DNM2):c.*386G>C
|
rs74952080
|
|
NM_001005361.3(DNM2):c.*550G>A
|
rs886054148
|
|
NM_001005361.3(DNM2):c.*711T>C
|
rs886054149
|
|
NM_001005361.3(DNM2):c.*716C>T
|
rs2073353055
|
|
NM_001005361.3(DNM2):c.*751T>A
|
rs2073354083
|
|
NM_001005361.3(DNM2):c.-122G>A
|
rs886054139
|
|
NM_001005361.3(DNM2):c.-19G>T
|
rs753599004
|
|
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140
|
|
NM_001005361.3(DNM2):c.162-7C>A
|
rs148318860
|
|
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
|
rs1360529572
|
|
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
|
rs2073288383
|
|
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
|
rs2073292307
|
|
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
|
rs1382688319
|
|
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
|
rs2071432774
|
|
NM_001005373.4(LRSAM1):c.*105del
|
rs200242834
|
|
NM_001005373.4(LRSAM1):c.*392G>T
|
rs1371405396
|
|
NM_001005373.4(LRSAM1):c.*501C>T
|
rs886063460
|
|
NM_001005373.4(LRSAM1):c.*552A>G
|
rs1836474069
|
|
NM_001005373.4(LRSAM1):c.-189+110G>A
|
rs886063451
|
|
NM_001005373.4(LRSAM1):c.-189+120_-189+122del
|
rs749626964
|
|
NM_001005373.4(LRSAM1):c.-308G>A
|
rs3808832
|
|
NM_001005373.4(LRSAM1):c.-35C>T
|
rs989000729
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1347+6C>T
|
rs1588128875
|
|
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.2115C>T (p.Thr705=)
|
rs1410005477
|
|
NM_001005373.4(LRSAM1):c.2134G>A (p.Asp712Asn)
|
rs1351504702
|
|
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=)
|
rs1564255509
|
|
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu)
|
rs758867006
|
|
NM_001005373.4(LRSAM1):c.615C>G (p.Cys205Trp)
|
rs886063455
|
|
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr)
|
rs765389102
|
|
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn)
|
rs551957380
|
|
NM_001031710.3(KLHL7):c.944del (p.Ser315fs)
|
rs2128469474
|
|
NM_001034850.2(RETREG1):c.-62C>A
|
rs1459602794
|
|
NM_001034850.3(RETREG1):c.*1035T>C
|
rs527314474
|
|
NM_001034850.3(RETREG1):c.*1160T>C
|
rs886060390
|
|
NM_001034850.3(RETREG1):c.*123T>G
|
rs886060393
|
|
NM_001034850.3(RETREG1):c.*1653G>A
|
rs1738371371
|
|
NM_001034850.3(RETREG1):c.*219A>G
|
rs372254630
|
|
NM_001034850.3(RETREG1):c.*455dup
|
rs140982908
|
|
NM_001034850.3(RETREG1):c.*55del
|
rs374572858
|
|
NM_001034850.3(RETREG1):c.*581T>C
|
rs1055493479
|
|
NM_001034850.3(RETREG1):c.*71dup
|
rs200951949
|
|
NM_001034850.3(RETREG1):c.*913G>T
|
rs886060391
|
|
NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=)
|
rs200156015
|
|
NM_001034850.3(RETREG1):c.10C>T (p.Pro4Ser)
|
rs1420598605
|
|
NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu)
|
rs886060394
|
|
NM_001034850.3(RETREG1):c.160G>A (p.Gly54Arg)
|
rs1743528602
|
|
NM_001034850.3(RETREG1):c.22G>A (p.Glu8Lys)
|
rs759050645
|
|
NM_001034850.3(RETREG1):c.295T>C (p.Phe99Leu)
|
rs1743520200
|
|
NM_001034850.3(RETREG1):c.670+8T>C
|
rs1229368332
|
|
NM_001034850.3(RETREG1):c.6G>A (p.Ala2=)
|
rs750740230
|
|
NM_001034850.3(RETREG1):c.76_81dup (p.Ser26_Pro27dup)
|
rs886060397
|
|
NM_001034850.3(RETREG1):c.953C>A (p.Thr318Asn)
|
rs368457852
|
|
NM_001034850.3(RETREG1):c.953C>T (p.Thr318Ile)
|
rs368457852
|
|
NM_001042472.2(ABHD12):c.-260G>A
|
rs886056566
|
|
NM_001042472.3(ABHD12):c.*321G>T
|
rs534140287
|
|
NM_001042472.3(ABHD12):c.*331G>C
|
rs927058842
|
|
NM_001042472.3(ABHD12):c.*414del
|
rs886056561
|
|
NM_001042472.3(ABHD12):c.*45G>C
|
rs200450758
|
|
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC
|
rs3833297
|
|
NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val)
|
rs776381886
|
|
NM_001042472.3(ABHD12):c.542+6G>A
|
rs752298031
|
|
NM_001042472.3(ABHD12):c.792G>T (p.Thr264=)
|
rs911558545
|
|
NM_001079866.2(BCS1L):c.-43G>A
|
rs145989550
|
|
NM_001079866.2(BCS1L):c.-53G>T
|
rs886055624
|
|
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val)
|
rs886055626
|
|
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser)
|
rs1939494232
|
|
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
|
rs58447305
|
|
NM_001113491.2(SEPTIN9):c.*1012G>T
|
rs897554465
|
|
NM_001113491.2(SEPTIN9):c.*1124C>T
|
rs2040429452
|
|
NM_001113491.2(SEPTIN9):c.*1314C>A
|
rs1315561699
|
|
NM_001113491.2(SEPTIN9):c.*1463G>T
|
rs557737230
|
|
NM_001113491.2(SEPTIN9):c.*15A>C
|
rs759620828
|
|
NM_001113491.2(SEPTIN9):c.*20C>A
|
rs373598188
|
|
NM_001113491.2(SEPTIN9):c.*2C>T
|
rs371665779
|
|
NM_001113491.2(SEPTIN9):c.*56A>C
|
rs1207223792
|
|
NM_001113491.2(SEPTIN9):c.*573C>G
|
rs527593353
|
|
NM_001113491.2(SEPTIN9):c.*647G>A
|
rs188932761
|
|
NM_001113491.2(SEPTIN9):c.*647G>C
|
rs188932761
|
|
NM_001113491.2(SEPTIN9):c.*732G>C
|
rs773550651
|
|
NM_001113491.2(SEPTIN9):c.*867G>A
|
rs886053494
|
|
NM_001113491.2(SEPTIN9):c.*911C>T
|
rs992905068
|
|
NM_001113491.2(SEPTIN9):c.1124+8C>T
|
rs775763949
|
|
NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met)
|
rs11537706
|
|
NM_001113491.2(SEPTIN9):c.76+12793G>A
|
rs367749793
|
|
NM_001113491.2(SEPTIN9):c.819G>A (p.Pro273=)
|
rs751622773
|
|
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)
|
rs17850877
|
|
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala)
|
rs1565150951
|
|
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr)
|
rs886048442
|
|
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)
|
rs10776
|
|
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)
|
rs998498207
|
|
NM_001122955.4(BSCL2):c.88-613G>A
|
rs112877243
|
|
NM_001122955.4(BSCL2):c.88-620A>C
|
rs886048443
|
|
NM_001122955.4(BSCL2):c.88-663G>A
|
rs117862461
|
|
NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)
|
|
|
NM_001127649.3(PEX26):c.*112C>T
|
rs761715161
|
|
NM_001127649.3(PEX26):c.*1136G>A
|
rs886057251
|
|
NM_001127649.3(PEX26):c.*1283C>T
|
rs73876563
|
|
NM_001127649.3(PEX26):c.*1488T>C
|
rs1926993079
|
|
NM_001127649.3(PEX26):c.*1532_*1535dup
|
rs361782
|
|
NM_001127649.3(PEX26):c.*1623GTTT[7]
|
rs375436648
|
|
NM_001127649.3(PEX26):c.*1639G>T
|
rs12484897
|
|
NM_001127649.3(PEX26):c.*1661_*1662insACTC
|
rs361571
|
|
NM_001127649.3(PEX26):c.*1740C>G
|
rs139987168
|
|
NM_001127649.3(PEX26):c.*1859A>C
|
rs146739242
|
|
NM_001127649.3(PEX26):c.*1957G>T
|
rs11913772
|
|
NM_001127649.3(PEX26):c.*2070del
|
rs886057256
|
|
NM_001127649.3(PEX26):c.*2282G>A
|
rs183054849
|
|
NM_001127649.3(PEX26):c.*2452G>C
|
rs886057258
|
|
NM_001127649.3(PEX26):c.*2523C>T
|
rs752154886
|
|
NM_001127649.3(PEX26):c.*2647G>A
|
rs886057259
|
|
NM_001127649.3(PEX26):c.*2703G>A
|
rs186314626
|
|
NM_001127649.3(PEX26):c.*2799dup
|
rs751296123
|
|
NM_001127649.3(PEX26):c.*2904T>C
|
rs555003472
|
|
NM_001127649.3(PEX26):c.*533A>C
|
rs886057247
|
|
NM_001127649.3(PEX26):c.*568G>A
|
rs886057248
|
|
NM_001127649.3(PEX26):c.*609GA[3]
|
rs886057249
|
|
NM_001127649.3(PEX26):c.*802A>G
|
rs1046921426
|
|
NM_001127649.3(PEX26):c.*829A>G
|
rs362057
|
|
NM_001127649.3(PEX26):c.*829A>T
|
rs362057
|
|
NM_001127649.3(PEX26):c.*944C>A
|
rs78412274
|
|
NM_001127649.3(PEX26):c.-375G>A
|
rs752393777
|
|
NM_001127649.3(PEX26):c.-80C>T
|
rs1926378615
|
|
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
|
rs61752132
|
|
NM_001127649.3(PEX26):c.230+8C>T
|
rs886057245
|
|
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)
|
rs74315506
|
|
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter)
|
rs886057246
|
|
NM_001127649.3(PEX26):c.814+15C>T
|
rs1926797835
|
|
NM_001130823.3(DNMT1):c.*18C>A
|
rs778467461
|
|
NM_001130823.3(DNMT1):c.*18C>T
|
rs778467461
|
|
NM_001130823.3(DNMT1):c.*34A>C
|
rs1416080045
|
|
NM_001130823.3(DNMT1):c.-34C>G
|
rs112908248
|
|
NM_001130823.3(DNMT1):c.1009-8C>G
|
rs766626750
|
|
NM_001130823.3(DNMT1):c.1171-7C>T
|
rs1168540279
|
|
NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=)
|
rs1599371468
|
|
NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=)
|
rs2038347997
|
|
NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=)
|
rs775786809
|
|
NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp)
|
rs1255153711
|
|
NM_001130823.3(DNMT1):c.3948+4G>A
|
rs774356396
|
|
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met)
|
rs377146699
|
|
NM_001136472.2(LITAF):c.*1217A>C
|
rs942172049
|
|
NM_001136472.2(LITAF):c.*1386G>A
|
rs184312185
|
|
NM_001136472.2(LITAF):c.*1399C>A
|
rs774513067
|
|
NM_001136472.2(LITAF):c.*1436T>G
|
rs2064132273
|
|
NM_001136472.2(LITAF):c.*1557C>A
|
rs886051647
|
|
NM_001136472.2(LITAF):c.*234C>A
|
rs1370604103
|
|
NM_001136472.2(LITAF):c.*294A>T
|
rs886051651
|
|
NM_001136472.2(LITAF):c.*33G>A
|
rs766852963
|
|
NM_001136472.2(LITAF):c.*453C>A
|
rs192516633
|
|
NM_001136472.2(LITAF):c.*563A>C
|
rs2064145331
|
|
NM_001136472.2(LITAF):c.*582dup
|
rs71406254
|
|
NM_001136472.2(LITAF):c.*723A>G
|
rs886051650
|
|
NM_001136472.2(LITAF):c.*816dup
|
rs758850868
|
|
NM_001136472.2(LITAF):c.*949A>G
|
rs886051649
|
|
NM_001136472.2(LITAF):c.-6+513G>C
|
rs2064807880
|
|
NM_001136472.2(LITAF):c.-6+618C>G
|
rs962811879
|
|
NM_001136472.2(LITAF):c.158G>C (p.Gly53Ala)
|
rs886051654
|
|
NM_001136472.2(LITAF):c.159G>A (p.Gly53=)
|
rs886051653
|
|
NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr)
|
rs2064215812
|
|
NM_001190836.2(DCTN1):c.-18-2073C>T
|
rs566961027
|
|
NM_001195248.2(APTX):c.*851_*852del
|
rs377365362
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195248.2(APTX):c.742T>C (p.Leu248=)
|
rs141195622
|
|
NM_001195248.2(APTX):c.771-12dup
|
rs34600530
|
|
NM_001244008.2(KIF1A):c.*1972del
|
rs886055831
|
|
NM_001244008.2(KIF1A):c.*249dup
|
rs886055835
|
|
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)
|
rs527977882
|
|
NM_001257988.1(TYMP):c.-185C>G
|
rs886057637
|
|
NM_001301365.1(LYST):c.-98+16250G>C
|
|
|
NM_001303.3(COX10):c.-170C>G
|
rs886052597
|
|
NM_001303.4(COX10):c.*1032T>A
|
rs1906768949
|
|
NM_001303.4(COX10):c.*1367G>A
|
rs555512140
|
|
NM_001303.4(COX10):c.*1383G>A
|
rs145948022
|
|
NM_001303.4(COX10):c.*150_*152del
|
rs200239586
|
|
NM_001303.4(COX10):c.*151_*152del
|
rs200239586
|
|
NM_001303.4(COX10):c.*408G>A
|
rs886052603
|
|
NM_001303.4(COX10):c.*539C>A
|
rs1906754704
|
|
NM_001303.4(COX10):c.*628C>G
|
rs886052607
|
|
NM_001303.4(COX10):c.*646C>A
|
rs7214082
|
|
NM_001303.4(COX10):c.*646C>G
|
rs7214082
|
|
NM_001303.4(COX10):c.*720G>A
|
rs1174121283
|
|
NM_001303.4(COX10):c.*831CT[1]
|
rs397763766
|
|
NM_001303.4(COX10):c.-40G>A
|
rs376921957
|
|
NM_001303.4(COX10):c.-89G>C
|
rs188803165
|
|
NM_001303.4(COX10):c.-89G>T
|
rs188803165
|
|
NM_001303.4(COX10):c.-90G>T
|
rs886052598
|
|
NM_001303.4(COX10):c.1096G>T (p.Val366Leu)
|
rs111541535
|
|
NM_001303.4(COX10):c.123G>A (p.Arg41=)
|
rs886052599
|
|
NM_001303.4(COX10):c.1305C>T (p.Gly435=)
|
rs199737206
|
|
NM_001303.4(COX10):c.64T>A (p.Trp22Arg)
|
rs540737897
|
|
NM_001303.4(COX10):c.675G>T (p.Pro225=)
|
rs199609301
|
|
NM_001303.4(COX10):c.929-9_929-7dup
|
rs144296730
|
|
NM_001351132.2(PEX5):c.*1080T>C
|
rs755972180
|
|
NM_001351132.2(PEX5):c.*1089T>C
|
rs886049834
|
|
NM_001351132.2(PEX5):c.*1134T>C
|
rs769928491
|
|
NM_001351132.2(PEX5):c.*1134dup
|
rs11448434
|
|
NM_001351132.2(PEX5):c.*171A>G
|
rs1945423860
|
|
NM_001351132.2(PEX5):c.*1C>T
|
rs886049827
|
|
NM_001351132.2(PEX5):c.*249C>G
|
rs1945433657
|
|
NM_001351132.2(PEX5):c.*61C>A
|
rs746752569
|
|
NM_001351132.2(PEX5):c.*628G>A
|
rs12316371
|
|
NM_001351132.2(PEX5):c.*628G>C
|
rs12316371
|
|
NM_001351132.2(PEX5):c.*677G>T
|
rs886049830
|
|
NM_001351132.2(PEX5):c.*766C>T
|
rs764837013
|
|
NM_001351132.2(PEX5):c.*991_*992dup
|
rs886049833
|
|
NM_001351132.2(PEX5):c.-17+151G>A
|
rs146875386
|
|
NM_001351132.2(PEX5):c.-17+21_-17+22insCCG
|
rs886049824
|
|
NM_001351132.2(PEX5):c.-17+22_-17+40delinsCC
|
rs775869915
|
|
NM_001351132.2(PEX5):c.-17+40T>C
|
rs796452917
|
|
NM_001351132.2(PEX5):c.-20C>G
|
rs12227917
|
|
NM_001351132.2(PEX5):c.-49G>A
|
rs886049823
|
|
NM_001351132.2(PEX5):c.-49G>T
|
rs886049823
|
|
NM_001351132.2(PEX5):c.-55C>G
|
rs886049822
|
|
NM_001351132.2(PEX5):c.-69C>T
|
rs886049821
|
|
NM_001351132.2(PEX5):c.1395-14T>C
|
rs1945174737
|
|
NM_001351132.2(PEX5):c.1413G>C (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=)
|
rs753512677
|
|
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr)
|
rs751637149
|
|
NM_001351132.2(PEX5):c.48G>C (p.Pro16=)
|
rs147958315
|
|
NM_001351132.2(PEX5):c.498A>G (p.Gln166=)
|
rs756714515
|
|
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)
|
rs749729761
|
|
NM_001351132.2(PEX5):c.643-5C>T
|
rs886049826
|
|
NM_001351132.2(PEX5):c.708C>T (p.Gly236=)
|
rs778009052
|
|
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser)
|
rs1944190059
|
|
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe)
|
rs1940821861
|
|
NM_001358921.2(COQ2):c.*348dup
|
rs542593202
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
NM_001365536.1(SCN9A):c.*1014G>A
|
rs200393413
|
|
NM_001365536.1(SCN9A):c.*1422T>C
|
rs1693272137
|
|
NM_001365536.1(SCN9A):c.*1643T>C
|
rs1693265771
|
|
NM_001365536.1(SCN9A):c.*1660G>A
|
rs16851753
|
|
NM_001365536.1(SCN9A):c.*1735C>A
|
rs1693263246
|
|
NM_001365536.1(SCN9A):c.*2154C>G
|
rs17804037
|
|
NM_001365536.1(SCN9A):c.*226A>C
|
rs886055048
|
|
NM_001365536.1(SCN9A):c.*237C>G
|
rs16851755
|
|
NM_001365536.1(SCN9A):c.*237C>T
|
rs16851755
|
|
NM_001365536.1(SCN9A):c.*2677T>C
|
rs1472041217
|
|
NM_001365536.1(SCN9A):c.*2928G>A
|
rs199559478
|
|
NM_001365536.1(SCN9A):c.*2945C>A
|
rs1693226507
|
|
NM_001365536.1(SCN9A):c.*3102C>T
|
rs182687583
|
|
NM_001365536.1(SCN9A):c.*3282A>C
|
rs139483482
|
|
NM_001365536.1(SCN9A):c.*900T>C
|
rs200829562
|
|
NM_001365536.1(SCN9A):c.*920T>A
|
rs201424899
|
|
NM_001365536.1(SCN9A):c.-290T>C
|
rs148362057
|
|
NM_001365536.1(SCN9A):c.-92G>T
|
rs569406301
|
|
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu)
|
rs886055056
|
|
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser)
|
rs886055055
|
|
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn)
|
rs188798505
|
|
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)
|
rs746956041
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn)
|
rs369989247
|
|
NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His)
|
rs1486841808
|
|
NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val)
|
rs201744417
|
|
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser)
|
rs768587771
|
|
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr)
|
rs747265095
|
|
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=)
|
rs886055054
|
|
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met)
|
rs886055053
|
|
NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr)
|
rs774490843
|
|
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala)
|
rs886055052
|
|
NM_001365536.1(SCN9A):c.3925-13T>C
|
rs886055051
|
|
NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys)
|
rs866428752
|
|
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=)
|
rs200610689
|
|
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His)
|
rs1693696549
|
|
NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His)
|
rs199705100
|
|
NM_001365951.3(KIF1B):c.*1363dup
|
rs567435289
|
|
NM_001365951.3(KIF1B):c.*249CA[13]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[14]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[15]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[17]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[18]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[19]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*281_*282dup
|
rs886044986
|
|
NM_001365951.3(KIF1B):c.*281_*286del
|
rs886044990
|
|
NM_001365951.3(KIF1B):c.*2978dup
|
rs145348144
|
|
NM_001365951.3(KIF1B):c.*4127dup
|
rs548680591
|
|
NM_001365951.3(KIF1B):c.*4279dup
|
rs531640427
|
|
NM_001365951.3(KIF1B):c.*454CT[1]
|
rs886044993
|
|
NM_001365951.3(KIF1B):c.*4664_*4665insG
|
rs571589510
|
|
NM_001365951.3(KIF1B):c.-26TA[7]
|
rs34063243
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001370298.3(FGD4):c.*1365T>C
|
rs927175650
|
|
NM_001370298.3(FGD4):c.*1375C>T
|
rs1951171868
|
|
NM_001370298.3(FGD4):c.*1866T>G
|
rs886049265
|
|
NM_001370298.3(FGD4):c.*1908G>C
|
rs886049266
|
|
NM_001370298.3(FGD4):c.*1954A>G
|
rs1239829
|
|
NM_001370298.3(FGD4):c.*2096T>A
|
rs1951211157
|
|
NM_001370298.3(FGD4):c.*2264G>A
|
rs867102953
|
|
NM_001370298.3(FGD4):c.*2537C>A
|
rs115173894
|
|
NM_001370298.3(FGD4):c.*2928_*2931del
|
rs549931906
|
|
NM_001370298.3(FGD4):c.*3113TA[4]
|
rs57627640
|
|
NM_001370298.3(FGD4):c.*3113TA[6]
|
rs57627640
|
|
NM_001370298.3(FGD4):c.*3130G>A
|
rs73087441
|
|
NM_001370298.3(FGD4):c.*3130G>T
|
rs73087441
|
|
NM_001370298.3(FGD4):c.*3148del
|
rs797002948
|
|
NM_001370298.3(FGD4):c.*3150A>G
|
rs542871416
|
|
NM_001370298.3(FGD4):c.*3195T>G
|
rs1951276558
|
|
NM_001370298.3(FGD4):c.*3894_*3895del
|
rs780175220
|
|
NM_001370298.3(FGD4):c.*4014C>A
|
rs187562428
|
|
NM_001370298.3(FGD4):c.*4118G>A
|
rs895913893
|
|
NM_001370298.3(FGD4):c.*4268A>G
|
rs542163387
|
|
NM_001370298.3(FGD4):c.*4317T>G
|
rs1951329705
|
|
NM_001370298.3(FGD4):c.*4347T>C
|
rs966650800
|
|
NM_001370298.3(FGD4):c.*4369dup
|
rs35874340
|
|
NM_001370298.3(FGD4):c.*4772dup
|
rs567814235
|
|
NM_001370298.3(FGD4):c.*5020G>C
|
rs886049277
|
|
NM_001370298.3(FGD4):c.*5152C>T
|
rs886049279
|
|
NM_001370298.3(FGD4):c.*5329G>C
|
rs886049281
|
|
NM_001370298.3(FGD4):c.*712C>T
|
rs1226829212
|
|
NM_001370298.3(FGD4):c.*762G>T
|
rs886049259
|
|
NM_001370298.3(FGD4):c.1305G>T (p.Met435Ile)
|
rs1948472955
|
|
NM_001370298.3(FGD4):c.1404+4A>T
|
rs767855809
|
|
NM_001370298.3(FGD4):c.1405-4A>G
|
rs886049254
|
|
NM_001370298.3(FGD4):c.1602+6T>C
|
rs1344451580
|
|
NM_001370298.3(FGD4):c.167-61986C>G
|
rs11052033
|
|
NM_001370298.3(FGD4):c.167-62037C>A
|
rs79370524
|
|
NM_001370298.3(FGD4):c.1980T>C (p.Phe660=)
|
rs1950062958
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2225G>A (p.Gly742Asp)
|
rs886049255
|
|
NM_001370298.3(FGD4):c.268A>T (p.Ile90Leu)
|
rs886049253
|
|
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)
|
rs199744649
|
|
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)
|
rs904582
|
|
NM_001370298.3(FGD4):c.846C>T (p.Asp282=)
|
rs904582
|
|
NM_001370298.3(FGD4):c.980T>C (p.Leu327Pro)
|
rs144980336
|
|
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)
|
rs886058116
|
|
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)
|
rs886058117
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001374736.1(DST):c.1217C>T (p.Pro406Leu)
|
rs1563465064
|
|
NM_001374736.1(DST):c.2620A>T (p.Ile874Phe)
|
rs774974326
|
|
NM_001374736.1(DST):c.3283T>G (p.Cys1095Gly)
|
rs886061650
|
|
NM_001374736.1(DST):c.4930-438G>C
|
rs145471325
|
|
NM_001374736.1(DST):c.4930-771dup
|
rs3841165
|
|
NM_001374736.1(DST):c.4930-772_4930-771dup
|
rs3841165
|
|
NM_001376.4(DYNC1H1):c.-122C>T
|
rs566619022
|
|
NM_001376.5(DYNC1H1):c.*194C>G
|
rs566606862
|
|
NM_001376.5(DYNC1H1):c.*70T>C
|
rs1047475161
|
|
NM_001376.5(DYNC1H1):c.-90C>T
|
rs1256118131
|
|
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)
|
rs886050371
|
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=)
|
rs886050373
|
|
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=)
|
rs886050374
|
|
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
|
rs2048578052
|
|
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg)
|
rs886050375
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
rs2048621150
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
|
|
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr)
|
rs886050376
|
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
rs963837216
|
|
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
rs2048072049
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
rs2048126886
|
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
rs1595609824
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
|
rs2048192586
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723
|
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
rs2048317566
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
rs2048487270
|
|
NM_001386140.1(MTTP):c.*1003T>C
|
rs796899519
|
|
NM_001386140.1(MTTP):c.*1044G>T
|
rs886058965
|
|
NM_001386140.1(MTTP):c.*219G>A
|
rs1358012798
|
|
NM_001386140.1(MTTP):c.*41A>G
|
rs886058959
|
|
NM_001386140.1(MTTP):c.*434G>A
|
rs1358561776
|
|
NM_001386140.1(MTTP):c.*454dup
|
rs545365701
|
|
NM_001386140.1(MTTP):c.*474T>C
|
rs960894922
|
|
NM_001386140.1(MTTP):c.*517A>T
|
rs886058964
|
|
NM_001386140.1(MTTP):c.*55G>C
|
rs192882987
|
|
NM_001386140.1(MTTP):c.*82G>A
|
rs886058960
|
|
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val)
|
rs137956833
|
|
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1769+12T>C
|
rs767162951
|
|
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)
|
rs767606327
|
|
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)
|
rs563558722
|
|
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)
|
rs1724921174
|
|
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)
|
rs1037319735
|
|
NM_001386140.1(MTTP):c.927G>A (p.Arg309=)
|
rs1001965936
|
|
NM_001540.4(HSPB1):c.-122G>T
|
rs553127513
|
|
NM_001540.4(HSPB1):c.-129G>T
|
rs886062446
|
|
NM_001540.5(HSPB1):c.*100_*103del
|
rs537392004
|
|
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
|
rs765197724
|
|
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
|
rs926257693
|
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001540.5(HSPB1):c.365-7C>T
|
rs201897299
|
|
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
|
rs1803014628
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
|
rs1310856057
|
|
NM_001605.3(AARS1):c.1587G>A (p.Leu529=)
|
rs886052255
|
|
NM_001605.3(AARS1):c.1596C>A (p.Thr532=)
|
rs142181559
|
|
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp)
|
rs371617479
|
|
NM_001605.3(AARS1):c.1737C>T (p.Ile579=)
|
rs144323646
|
|
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter)
|
rs146946034
|
|
NM_001605.3(AARS1):c.1824G>A (p.Thr608=)
|
rs199644417
|
|
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)
|
rs757167895
|
|
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg)
|
rs886052254
|
|
NM_001605.3(AARS1):c.2401-11A>G
|
rs377576408
|
|
NM_001605.3(AARS1):c.2421C>A (p.Ile807=)
|
rs768412428
|
|
NM_001605.3(AARS1):c.342A>C (p.Ala114=)
|
rs190680402
|
|
NM_001605.3(AARS1):c.480-8T>G
|
rs751472610
|
|
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
|
rs1567608510
|
|
NM_001723.7(DST):c.4090C>G (p.Leu1364Val)
|
rs886061648
|
|
NM_001723.7(DST):c.4734G>A (p.Glu1578=)
|
rs545103567
|
|
NM_001723.7(DST):c.5257G>A (p.Glu1753Lys)
|
rs886061645
|
|
NM_001723.7(DST):c.5892C>T (p.Thr1964=)
|
rs146263203
|
|
NM_001723.7(DST):c.6877C>T (p.Pro2293Ser)
|
rs886061644
|
|
NM_001723.7(DST):c.6994A>C (p.Asn2332His)
|
rs886061643
|
|
NM_001931.5(DLAT):c.396dup (p.Ala133fs)
|
rs782173047
|
|
NM_001933.5(DLST):c.1307T>A (p.Leu436His)
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001953.5(TYMP):c.-20C>T
|
rs1040337014
|
|
NM_001953.5(TYMP):c.1044G>A (p.Ala348=)
|
rs886057633
|
|
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg)
|
rs2069332918
|
|
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser)
|
rs768582480
|
|
NM_001953.5(TYMP):c.214+6_214+7del
|
rs753466981
|
|
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg)
|
rs377572658
|
|
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg)
|
rs775841111
|
|
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg)
|
rs769568725
|
|
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala)
|
rs781163498
|
|
NM_001953.5(TYMP):c.516+14C>T
|
rs780757016
|
|
NM_001953.5(TYMP):c.516+4C>T
|
rs369574115
|
|
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg)
|
rs367723039
|
|
NM_001953.5(TYMP):c.647-8C>T
|
rs753922795
|
|
NM_001953.5(TYMP):c.756A>C (p.Ala252=)
|
rs886057635
|
|
NM_001953.5(TYMP):c.766-10C>T
|
rs886057634
|
|
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg)
|
rs1412132331
|
|
NM_002047.2(GARS1):c.-180G>C
|
rs919928419
|
|
NM_002047.2(GARS1):c.-195A>T
|
rs940014942
|
|
NM_002047.2(GARS1):c.-197G>C
|
rs886062269
|
|
NM_002047.2(GARS1):c.-59C>T
|
rs886062271
|
|
NM_002047.2(GARS1):c.-64C>T
|
rs932663016
|
|
NM_002047.2(GARS1):c.-69T>G
|
rs527307703
|
|
NM_002047.4(GARS1):c.*145del
|
rs529035174
|
|
NM_002047.4(GARS1):c.*36del
|
rs758974790
|
|
NM_002047.4(GARS1):c.*50_*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.-36C>A
|
rs531483802
|
|
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
rs1782883200
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
rs1782884805
|
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
rs1783175611
|
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136
|
|
NM_002180.3(IGHMBP2):c.*108G>A
|
rs1020096647
|
|
NM_002180.3(IGHMBP2):c.*226G>C
|
rs1447465473
|
|
NM_002180.3(IGHMBP2):c.*242C>T
|
rs543587344
|
|
NM_002180.3(IGHMBP2):c.*524T>C
|
rs192025232
|
|
NM_002180.3(IGHMBP2):c.*648G>A
|
rs139118510
|
|
NM_002180.3(IGHMBP2):c.*648G>T
|
rs139118510
|
|
NM_002180.3(IGHMBP2):c.*698C>A
|
rs1859711487
|
|
NM_002180.3(IGHMBP2):c.*729G>A
|
rs191714559
|
|
NM_002180.3(IGHMBP2):c.*788C>T
|
rs886048610
|
|
NM_002180.3(IGHMBP2):c.*797T>G
|
rs898341326
|
|
NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=)
|
rs886048604
|
|
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala)
|
rs1566445036
|
|
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro)
|
rs1859530717
|
|
NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=)
|
rs139237340
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2683A>G (p.Asn895Asp)
|
rs886048607
|
|
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser)
|
rs145945230
|
|
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp)
|
rs1440519538
|
|
NM_002180.3(IGHMBP2):c.2975G>A (p.Gly992Glu)
|
rs886048608
|
|
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=)
|
rs1281690554
|
|
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=)
|
rs1858280736
|
|
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
|
rs564645287
|
|
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr)
|
rs375554721
|
|
NM_002180.3(IGHMBP2):c.912+4G>A
|
rs758392980
|
|
NM_002495.4(NDUFS4):c.*79A>G
|
rs886060699
|
|
NM_002495.4(NDUFS4):c.*88T>A
|
rs1740746273
|
|
NM_002495.4(NDUFS4):c.-6A>T
|
rs73754255
|
|
NM_002495.4(NDUFS4):c.178-4G>C
|
rs200384843
|
|
NM_002495.4(NDUFS4):c.351-11_351-8del
|
rs375549253
|
|
NM_002495.4(NDUFS4):c.424+19dup
|
rs140172554
|
|
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)
|
rs148595893
|
|
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)
|
rs1329465366
|
|
NM_002496.3(NDUFS8):c.-98G>A
|
rs886048591
|
|
NM_002496.4(NDUFS8):c.199+15T>G
|
rs3115545
|
|
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)
|
rs746246241
|
|
NM_002506.3(NGF):c.283C>A (p.Arg95Ser)
|
rs771270154
|
|
NM_002506.3(NGF):c.43G>A (p.Gly15Ser)
|
rs181255687
|
|
NM_002529.4(NTRK1):c.1448G>A (p.Gly483Asp)
|
rs1647855568
|
|
NM_002529.4(NTRK1):c.1632+4A>G
|
rs886045372
|
|
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)
|
rs553270591
|
|
NM_002529.4(NTRK1):c.2015G>A (p.Ser672Asn)
|
rs1558108205
|
|
NM_002529.4(NTRK1):c.2035G>C (p.Asp679His)
|
rs775191394
|
|
NM_002529.4(NTRK1):c.213-5C>G
|
rs757323460
|
|
NM_002529.4(NTRK1):c.2205+13C>A
|
rs1648175536
|
|
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)
|
rs1648253157
|
|
NM_002529.4(NTRK1):c.2299G>C (p.Glu767Gln)
|
rs886045373
|
|
NM_002529.4(NTRK1):c.468G>C (p.Leu156=)
|
rs991397214
|
|
NM_002617.4(PEX10):c.*352G>A
|
rs115735911
|
|
NM_002617.4(PEX10):c.*688G>T
|
rs886046141
|
|
NM_002617.4(PEX10):c.*744dup
|
rs886046139
|
|
NM_002617.4(PEX10):c.*782C>A
|
rs886046138
|
|
NM_002617.4(PEX10):c.*798C>T
|
rs886046137
|
|
NM_002617.4(PEX10):c.*91A>G
|
rs886046145
|
|
NM_002617.4(PEX10):c.*951G>C
|
rs1642943783
|
|
NM_002617.4(PEX10):c.-18C>T
|
rs1391106265
|
|
NM_002617.4(PEX10):c.-9C>T
|
rs1406863106
|
|
NM_002617.4(PEX10):c.443A>G (p.His148Arg)
|
rs1643086674
|
|
NM_002617.4(PEX10):c.521T>A (p.Leu174His)
|
rs1333143056
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
|
rs149615608
|
|
NM_002617.4(PEX10):c.768T>A (p.Ser256=)
|
rs368439785
|
|
NM_002617.4(PEX10):c.899G>T (p.Trp300Leu)
|
rs1643006514
|
|
NM_002618.4(PEX13):c.*1480C>G
|
rs1680773967
|
|
NM_002618.4(PEX13):c.*1654T>G
|
rs1680777877
|
|
NM_002618.4(PEX13):c.*1875_*1876del
|
rs886056205
|
|
NM_002618.4(PEX13):c.*2111A>C
|
rs1680786136
|
|
NM_002618.4(PEX13):c.*2236A>C
|
rs146108177
|
|
NM_002618.4(PEX13):c.*233G>T
|
rs886056198
|
|
NM_002618.4(PEX13):c.*2537T>C
|
rs1680795269
|
|
NM_002618.4(PEX13):c.*2918A>G
|
rs1680801956
|
|
NM_002618.4(PEX13):c.*2989_*2990del
|
rs886056210
|
|
NM_002618.4(PEX13):c.*3044del
|
rs886056212
|
|
NM_002618.4(PEX13):c.*318G>C
|
rs1573562372
|
|
NM_002618.4(PEX13):c.*436T>C
|
rs1680757708
|
|
NM_002618.4(PEX13):c.*442dup
|
rs201619544
|
|
NM_002618.4(PEX13):c.*676A>G
|
rs886056200
|
|
NM_002618.4(PEX13):c.-12G>A
|
rs886056195
|
|
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly)
|
rs886056196
|
|
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg)
|
rs764069625
|
|
NM_002618.4(PEX13):c.32C>A (p.Pro11His)
|
rs564528921
|
|
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu)
|
rs564528921
|
|
NM_002618.4(PEX13):c.417A>G (p.Ala139=)
|
rs886056197
|
|
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser)
|
rs771610641
|
|
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu)
|
rs1680745521
|
|
NM_002778.3(PSAP):c.-33T>C
|
rs143987544
|
|
NM_002778.3(PSAP):c.-56A>G
|
rs534586960
|
|
NM_002778.3(PSAP):c.-62A>G
|
rs886047155
|
|
NM_002778.3(PSAP):c.-99T>G
|
rs886047156
|
|
NM_002778.4(PSAP):c.*113C>T
|
rs544214520
|
|
NM_002778.4(PSAP):c.*526G>A
|
rs1842177081
|
|
NM_002778.4(PSAP):c.*73C>T
|
rs541692197
|
|
NM_002778.4(PSAP):c.*859C>T
|
rs886047149
|
|
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)
|
rs544300820
|
|
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)
|
rs760621775
|
|
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)
|
rs529719024
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
NM_002778.4(PSAP):c.1329G>T (p.Leu443=)
|
rs1842249121
|
|
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)
|
rs761637109
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)
|
rs757553906
|
|
NM_002857.4(PEX19):c.*1462C>G
|
rs1233628177
|
|
NM_002857.4(PEX19):c.*172G>C
|
rs886045449
|
|
NM_002857.4(PEX19):c.*1790A>G
|
rs886045440
|
|
NM_002857.4(PEX19):c.*2417CT[2]
|
rs143491060
|
|
NM_002857.4(PEX19):c.*361G>A
|
rs886045448
|
|
NM_002857.4(PEX19):c.*582G>A
|
rs1657648265
|
|
NM_002857.4(PEX19):c.*934A>G
|
rs886045444
|
|
NM_002857.4(PEX19):c.*998G>A
|
rs886045443
|
|
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)
|
rs144256391
|
|
NM_002857.4(PEX19):c.149C>A (p.Pro50His)
|
rs11550117
|
|
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu)
|
rs11550117
|
|
NM_002857.4(PEX19):c.181-15A>G
|
rs114403769
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
NM_002857.4(PEX19):c.630A>C (p.Leu210=)
|
rs202174805
|
|
NM_002977.3(SCN9A):c.-324C>A
|
rs201905758
|
|
NM_002977.3(SCN9A):c.-324C>T
|
rs201905758
|
|
NM_002977.3(SCN9A):c.-339G>C
|
rs886055057
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_003172.2(SURF1):c.-37C>T
|
rs523304
|
|
NM_003172.4(SURF1):c.*93C>T
|
rs1836416878
|
|
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
|
rs782036327
|
|
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr)
|
rs781807153
|
|
NM_003172.4(SURF1):c.754_755del
|
rs782007828
|
|
NM_003477.2(PDHX):c.-129_-127delCGG
|
rs371074122
|
|
NM_003477.2(PDHX):c.-208C>T
|
rs555380381
|
|
NM_003477.2(PDHX):c.-271G>T
|
rs780153979
|
|
NM_003477.2(PDHX):c.-319G>A
|
rs2956113
|
|
NM_003477.2(PDHX):c.-358G>A
|
rs886048245
|
|
NM_003477.2(PDHX):c.-485G>C
|
rs988171497
|
|
NM_003477.2(PDHX):c.-506T>C
|
rs2016814
|
|
NM_003477.2(PDHX):c.-519C>A
|
rs561463212
|
|
NM_003477.3(PDHX):c.*662A>T
|
rs1855847638
|
|
NM_003477.3(PDHX):c.*783G>T
|
rs751318367
|
|
NM_003477.3(PDHX):c.*821A>T
|
rs1020596537
|
|
NM_003477.3(PDHX):c.*874A>G
|
rs1855851456
|
|
NM_003477.3(PDHX):c.*904G>T
|
rs182283782
|
|
NM_003477.3(PDHX):c.-27C>T
|
rs529801753
|
|
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)
|
rs200419151
|
|
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter)
|
rs769476738
|
|
NM_003477.3(PDHX):c.585C>G (p.His195Gln)
|
rs886048247
|
|
NM_003477.3(PDHX):c.702T>C (p.Thr234=)
|
rs772231144
|
|
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly)
|
rs886048248
|
|
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)
|
rs1855230194
|
|
NM_003560.4(PLA2G6):c.*183_*187del
|
rs139718702
|
|
NM_003560.4(PLA2G6):c.*350C>A
|
rs11570770
|
|
NM_003560.4(PLA2G6):c.*548C>G
|
rs866066890
|
|
NM_003560.4(PLA2G6):c.*565C>G
|
rs886057497
|
|
NM_003560.4(PLA2G6):c.-130C>T
|
rs11570597
|
|
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)
|
rs1451486649
|
|
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
|
rs387906863
|
|
NM_003560.4(PLA2G6):c.1977C>T (p.Asn659=)
|
rs201727354
|
|
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu)
|
rs369038599
|
|
NM_003560.4(PLA2G6):c.2035-926G>A
|
|
|
NM_003560.4(PLA2G6):c.2035G>A (p.Gly679Ser)
|
rs886057501
|
|
NM_003560.4(PLA2G6):c.2202+5G>A
|
rs587784348
|
|
NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln)
|
rs751982449
|
|
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)
|
rs142715413
|
|
NM_003560.4(PLA2G6):c.776C>A (p.Ala259Asp)
|
rs2088801961
|
|
NM_003560.4(PLA2G6):c.894+6T>G
|
rs2088460355
|
|
NM_003560.4(PLA2G6):c.894+8G>A
|
rs752942062
|
|
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)
|
rs199935023
|
|
NM_003630.3(PEX3):c.*1074A>G
|
rs553070296
|
|
NM_003630.3(PEX3):c.*1226A>T
|
rs999619029
|
|
NM_003630.3(PEX3):c.*1305C>T
|
rs886061137
|
|
NM_003630.3(PEX3):c.*307TA[7]
|
rs1326299129
|
|
NM_003630.3(PEX3):c.*321_*322del
|
rs771525459
|
|
NM_003630.3(PEX3):c.*377C>T
|
rs1584020851
|
|
NM_003630.3(PEX3):c.*708A>G
|
rs1780365449
|
|
NM_003630.3(PEX3):c.*742A>G
|
rs1780365756
|
|
NM_003630.3(PEX3):c.*793T>C
|
rs535466526
|
|
NM_003630.3(PEX3):c.*822A>G
|
rs1780366359
|
|
NM_003630.3(PEX3):c.*985T>G
|
rs1212183517
|
|
NM_003630.3(PEX3):c.-150CT[3]
|
rs886061131
|
|
NM_003630.3(PEX3):c.-175dup
|
rs886061130
|
|
NM_003630.3(PEX3):c.-197T>C
|
rs184934783
|
|
NM_003630.3(PEX3):c.332G>T (p.Ser111Ile)
|
rs1780065436
|
|
NM_003630.3(PEX3):c.472C>G (p.Pro158Ala)
|
rs1780071841
|
|
NM_003630.3(PEX3):c.887C>T (p.Ala296Val)
|
rs886061132
|
|
NM_003680.3(YARS1):c.-157G>A
|
rs1224825373
|
|
NM_003680.3(YARS1):c.-260G>A
|
rs905903653
|
|
NM_003680.3(YARS1):c.-441G>C
|
rs1483819380
|
|
NM_003680.3(YARS1):c.-620A>C
|
rs1057515550
|
|
NM_003680.3(YARS1):c.-741C>T
|
rs547181978
|
|
NM_003680.3(YARS1):c.-782G>A
|
rs1638832989
|
|
NM_003680.4(YARS1):c.135G>A (p.Thr45=)
|
rs549109061
|
|
NM_003680.4(YARS1):c.410C>G (p.Ser137Cys)
|
rs770608909
|
|
NM_003680.4(YARS1):c.466G>T (p.Val156Leu)
|
rs781752618
|
|
NM_003680.4(YARS1):c.511-14G>A
|
rs1057515513
|
|
NM_003680.4(YARS1):c.579C>T (p.Thr193=)
|
rs1344194115
|
|
NM_004082.5(DCTN1):c.*111C>T
|
rs1673974256
|
|
NM_004082.5(DCTN1):c.-167del
|
rs886056335
|
|
NM_004082.5(DCTN1):c.-262A>G
|
rs886056336
|
|
NM_004082.5(DCTN1):c.-263C>G
|
rs1013222986
|
|
NM_004082.5(DCTN1):c.-72C>G
|
rs886056334
|
|
NM_004082.5(DCTN1):c.1065A>T (p.Ala355=)
|
rs886056333
|
|
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)
|
rs570863800
|
|
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=)
|
rs886056332
|
|
NM_004082.5(DCTN1):c.1393-7G>T
|
rs886056330
|
|
NM_004082.5(DCTN1):c.1393-8T>C
|
rs886056331
|
|
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)
|
rs150928856
|
|
NM_004082.5(DCTN1):c.2782G>A (p.Ala928Thr)
|
rs1674377455
|
|
NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp)
|
rs1674375862
|
|
NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met)
|
rs140969689
|
|
NM_004082.5(DCTN1):c.345A>G (p.Lys115=)
|
rs1675303256
|
|
NM_004082.5(DCTN1):c.3547G>T (p.Ala1183Ser)
|
rs886056329
|
|
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala)
|
rs886070472
|
|
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
|
rs146083590
|
|
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser)
|
rs770302677
|
|
NM_004082.5(DCTN1):c.627G>T (p.Pro209=)
|
rs147673066
|
|
NM_004082.5(DCTN1):c.810C>G (p.Ala270=)
|
rs569011011
|
|
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu)
|
rs200952455
|
|
NM_004168.3(SDHA):c.-84dup
|
rs35805262
|
|
NM_004168.4(SDHA):c.*75A>G
|
rs886060517
|
|
NM_004168.4(SDHA):c.-1C>T
|
rs560932680
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1092C>T (p.Val364=)
|
rs886060515
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu)
|
rs6962
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)
|
rs768693502
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.771-11A>G
|
rs2288461
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004376.5(COX15):c.*3210C>T
|
rs886046598
|
|
NM_004376.5(COX15):c.*3755G>A
|
rs886046596
|
|
NM_004376.5(COX15):c.*4441G>C
|
rs886046594
|
|
NM_004376.6(COX15):c.-232C>T
|
rs886046613
|
|
NM_004376.6(COX15):c.-250G>C
|
rs985074355
|
|
NM_004376.6(COX15):c.-602C>A
|
rs886046616
|
|
NM_004544.4(NDUFA10):c.*1047T>C
|
rs1694787943
|
|
NM_004544.4(NDUFA10):c.*1124C>T
|
rs754187471
|
|
NM_004544.4(NDUFA10):c.*1129G>A
|
rs886055822
|
|
NM_004544.4(NDUFA10):c.*1212T>C
|
rs886055821
|
|
NM_004544.4(NDUFA10):c.*1229C>G
|
rs55998047
|
|
NM_004544.4(NDUFA10):c.*1391C>T
|
rs552149779
|
|
NM_004544.4(NDUFA10):c.*1586A>G
|
rs1483288404
|
|
NM_004544.4(NDUFA10):c.*1702G>A
|
rs1694755462
|
|
NM_004544.4(NDUFA10):c.*1884G>C
|
rs886055820
|
|
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG
|
rs886055819
|
|
NM_004544.4(NDUFA10):c.*2009G>C
|
rs370309206
|
|
NM_004544.4(NDUFA10):c.*2042A>C
|
rs886055818
|
|
NM_004544.4(NDUFA10):c.*2046T>C
|
rs1694740787
|
|
NM_004544.4(NDUFA10):c.*2079A>G
|
rs1574808891
|
|
NM_004544.4(NDUFA10):c.*2136T>C
|
rs943989946
|
|
NM_004544.4(NDUFA10):c.*2397A>G
|
rs886055816
|
|
NM_004544.4(NDUFA10):c.*2838C>A
|
rs532456176
|
|
NM_004544.4(NDUFA10):c.*2997G>A
|
rs886055814
|
|
NM_004544.4(NDUFA10):c.*3009T>C
|
rs1694711139
|
|
NM_004544.4(NDUFA10):c.*3052G>A
|
rs1003876097
|
|
NM_004544.4(NDUFA10):c.*3175T>G
|
rs1694704488
|
|
NM_004544.4(NDUFA10):c.*3301C>T
|
rs1694700570
|
|
NM_004544.4(NDUFA10):c.*3403A>G
|
rs1574807018
|
|
NM_004544.4(NDUFA10):c.*3408T>C
|
rs886055810
|
|
NM_004544.4(NDUFA10):c.*3456T>G
|
rs1694694826
|
|
NM_004544.4(NDUFA10):c.*3490G>C
|
rs1694693520
|
|
NM_004544.4(NDUFA10):c.*3724G>A
|
rs1694684016
|
|
NM_004544.4(NDUFA10):c.*412A>G
|
rs546052985
|
|
NM_004544.4(NDUFA10):c.*435A>G
|
rs1054245819
|
|
NM_004544.4(NDUFA10):c.*438C>T
|
rs13396556
|
|
NM_004544.4(NDUFA10):c.*548G>C
|
rs1694810369
|
|
NM_004544.4(NDUFA10):c.*732T>G
|
rs1349086163
|
|
NM_004544.4(NDUFA10):c.*740C>T
|
rs886055823
|
|
NM_004544.4(NDUFA10):c.*861C>G
|
rs551167199
|
|
NM_004544.4(NDUFA10):c.-34C>T
|
rs920826583
|
|
NM_004544.4(NDUFA10):c.-36C>T
|
rs886055826
|
|
NM_004544.4(NDUFA10):c.1000-5del
|
rs138479490
|
|
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)
|
rs201449418
|
|
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu)
|
rs558134843
|
|
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=)
|
rs770747594
|
|
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val)
|
rs1258770997
|
|
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro)
|
rs1559403435
|
|
NM_004544.4(NDUFA10):c.558C>T (p.His186=)
|
rs1407750102
|
|
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)
|
rs148656779
|
|
NM_004544.4(NDUFA10):c.749+5G>A
|
rs1697147446
|
|
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly)
|
rs758042753
|
|
NM_004551.3(NDUFS3):c.-15C>G
|
rs950097510
|
|
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln)
|
rs1555198759
|
|
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His)
|
rs886048391
|
|
NM_004551.3(NDUFS3):c.381+5G>T
|
rs886048392
|
|
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg)
|
rs752314902
|
|
NM_004565.3(PEX14):c.*174C>T
|
rs886045018
|
|
NM_004565.3(PEX14):c.*400G>T
|
rs886045019
|
|
NM_004565.3(PEX14):c.*515C>T
|
rs886045020
|
|
NM_004565.3(PEX14):c.*570C>T
|
rs1641898212
|
|
NM_004565.3(PEX14):c.*616C>T
|
rs541842608
|
|
NM_004565.3(PEX14):c.*685A>T
|
rs1156589089
|
|
NM_004565.3(PEX14):c.*755del
|
rs548721184
|
|
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr)
|
rs758355392
|
|
NM_004565.3(PEX14):c.861G>T (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser)
|
rs886045017
|
|
NM_004589.3(SCO1):c.-53delA
|
rs566330071
|
|
NM_004589.4(SCO1):c.*270T>A
|
rs76465133
|
|
NM_004589.4(SCO1):c.*285C>T
|
rs886052593
|
|
NM_004589.4(SCO1):c.*320=
|
rs2040570
|
|
NM_004589.4(SCO1):c.*403A>G
|
rs886052592
|
|
NM_004589.4(SCO1):c.*601del
|
rs886052591
|
|
NM_004589.4(SCO1):c.153G>T (p.Ala51=)
|
rs2074737981
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004589.4(SCO1):c.16C>T (p.Leu6=)
|
rs61753148
|
|
NM_004589.4(SCO1):c.224C>T (p.Pro75Leu)
|
rs370147170
|
|
NM_004589.4(SCO1):c.273G>A (p.Gly91=)
|
rs886052596
|
|
NM_004589.4(SCO1):c.393C>T (p.Ile131=)
|
rs778406995
|
|
NM_004589.4(SCO1):c.433C>T (p.His145Tyr)
|
rs2074698464
|
|
NM_004589.4(SCO1):c.798G>C (p.Leu266Phe)
|
rs1397651609
|
|
NM_004637.5(RAB7A):c.-204G>T
|
rs886057938
|
|
NM_004637.5(RAB7A):c.-209_-204dup
|
rs770559386
|
|
NM_004637.6(RAB7A):c.*1026G>A
|
rs376185459
|
|
NM_004637.6(RAB7A):c.*1079C>T
|
rs141066124
|
|
NM_004637.6(RAB7A):c.*1161C>T
|
rs886057952
|
|
NM_004637.6(RAB7A):c.*1219C>T
|
rs1036501286
|
|
NM_004637.6(RAB7A):c.*182CA[9]
|
rs139417205
|
|
NM_004637.6(RAB7A):c.*229C>T
|
rs147244704
|
|
NM_004637.6(RAB7A):c.*317A>G
|
rs1933980298
|
|
NM_004637.6(RAB7A):c.*421_*423del
|
rs886057944
|
|
NM_004637.6(RAB7A):c.*473G>C
|
rs886057945
|
|
NM_004637.6(RAB7A):c.*700C>T
|
rs886057946
|
|
NM_004637.6(RAB7A):c.*801dup
|
rs886057948
|
|
NM_004637.6(RAB7A):c.*819C>A
|
rs772662283
|
|
NM_004637.6(RAB7A):c.*846A>G
|
rs532629721
|
|
NM_004637.6(RAB7A):c.*908A>C
|
rs546868558
|
|
NM_004637.6(RAB7A):c.*922A>G
|
rs886057949
|
|
NM_004637.6(RAB7A):c.*929A>T
|
rs886057950
|
|
NM_004637.6(RAB7A):c.*974A>G
|
rs1933994920
|
|
NM_004637.6(RAB7A):c.*997T>G
|
rs3755593
|
|
NM_004637.6(RAB7A):c.*997del
|
rs371200521
|
|
NM_004637.6(RAB7A):c.-146G>C
|
rs1044292082
|
|
NM_004637.6(RAB7A):c.-154G>A
|
rs886057939
|
|
NM_004637.6(RAB7A):c.-61G>A
|
rs2070377358
|
|
NM_004637.6(RAB7A):c.-70CTC[2]
|
rs763539443
|
|
NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser)
|
rs11549756
|
|
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)
|
rs1933833236
|
|
NM_004637.6(RAB7A):c.54-15T>C
|
rs748552184
|
|
NM_004813.2(PEX16):c.-265C>T
|
rs886048330
|
|
NM_004813.2(PEX16):c.-290C>G
|
rs886048331
|
|
NM_004813.2(PEX16):c.-305C>T
|
rs886048332
|
|
NM_004813.2(PEX16):c.-67C>A
|
rs886048329
|
|
NM_004813.4(PEX16):c.*324G>A
|
rs879320611
|
|
NM_004813.4(PEX16):c.*376G>A
|
rs143868125
|
|
NM_004813.4(PEX16):c.*376G>C
|
rs143868125
|
|
NM_004813.4(PEX16):c.*491G>A
|
rs886048324
|
|
NM_004813.4(PEX16):c.-63G>C
|
rs532003586
|
|
NM_004813.4(PEX16):c.348C>T (p.Val116=)
|
rs886048328
|
|
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr)
|
rs1357832796
|
|
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys)
|
rs886048327
|
|
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser)
|
rs754114296
|
|
NM_004813.4(PEX16):c.672C>T (p.Tyr224=)
|
rs746173483
|
|
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg)
|
rs757071504
|
|
NM_004813.4(PEX16):c.861C>T (p.Arg287=)
|
rs747883612
|
|
NM_004813.4(PEX16):c.918G>C (p.Leu306=)
|
rs753109224
|
|
NM_004863.3(SPTLC2):c.-187C>T
|
rs554906103
|
|
NM_004863.4(SPTLC2):c.*1077A>T
|
rs149194260
|
|
NM_004863.4(SPTLC2):c.*1185G>C
|
rs917777276
|
|
NM_004863.4(SPTLC2):c.*135C>A
|
rs886050850
|
|
NM_004863.4(SPTLC2):c.*152A>T
|
rs886050849
|
|
NM_004863.4(SPTLC2):c.*1655G>C
|
rs45480297
|
|
NM_004863.4(SPTLC2):c.*1658G>A
|
rs2079327620
|
|
NM_004863.4(SPTLC2):c.*1832T>C
|
rs886050845
|
|
NM_004863.4(SPTLC2):c.*1936A>T
|
rs886050844
|
|
NM_004863.4(SPTLC2):c.*1997T>G
|
rs2079325752
|
|
NM_004863.4(SPTLC2):c.*2716CT[1]
|
rs140918232
|
|
NM_004863.4(SPTLC2):c.*2777G>A
|
rs774328377
|
|
NM_004863.4(SPTLC2):c.*2847T>C
|
rs1340846568
|
|
NM_004863.4(SPTLC2):c.*2910_*2912del
|
rs145606197
|
|
NM_004863.4(SPTLC2):c.*2936_*2938dup
|
rs200856836
|
|
NM_004863.4(SPTLC2):c.*2960C>T
|
rs886050841
|
|
NM_004863.4(SPTLC2):c.*2981del
|
rs545316519
|
|
NM_004863.4(SPTLC2):c.*303G>A
|
rs886050848
|
|
NM_004863.4(SPTLC2):c.*3084A>G
|
rs2079320176
|
|
NM_004863.4(SPTLC2):c.*3286C>T
|
rs2079319191
|
|
NM_004863.4(SPTLC2):c.*3348G>T
|
rs1173264442
|
|
NM_004863.4(SPTLC2):c.*3668G>A
|
rs886050835
|
|
NM_004863.4(SPTLC2):c.*3876GTT[2]
|
rs544851038
|
|
NM_004863.4(SPTLC2):c.*4052G>C
|
rs2079315610
|
|
NM_004863.4(SPTLC2):c.*4089del
|
rs149064904
|
|
NM_004863.4(SPTLC2):c.*4402G>A
|
rs886050833
|
|
NM_004863.4(SPTLC2):c.*4493dup
|
rs145656898
|
|
NM_004863.4(SPTLC2):c.*4682C>A
|
rs2079311832
|
|
NM_004863.4(SPTLC2):c.*4950A>T
|
rs955565700
|
|
NM_004863.4(SPTLC2):c.*5008G>A
|
rs368524988
|
|
NM_004863.4(SPTLC2):c.*5303A>G
|
rs2079308922
|
|
NM_004863.4(SPTLC2):c.*5510C>T
|
rs2079307739
|
|
NM_004863.4(SPTLC2):c.*5989dup
|
rs149453307
|
|
NM_004863.4(SPTLC2):c.*6068C>T
|
rs1566763209
|
|
NM_004863.4(SPTLC2):c.*6169G>T
|
rs2079303694
|
|
NM_004863.4(SPTLC2):c.*6T>G
|
rs73319080
|
|
NM_004863.4(SPTLC2):c.*727C>T
|
rs115976926
|
|
NM_004863.4(SPTLC2):c.*809C>A
|
rs886050847
|
|
NM_004863.4(SPTLC2):c.*946C>A
|
rs752351930
|
|
NM_004863.4(SPTLC2):c.*946C>T
|
rs752351930
|
|
NM_004863.4(SPTLC2):c.-30G>A
|
rs142320856
|
|
NM_004863.4(SPTLC2):c.-30G>T
|
rs142320856
|
|
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala)
|
rs577862696
|
|
NM_004863.4(SPTLC2):c.133-12C>T
|
rs2079853345
|
|
NM_004863.4(SPTLC2):c.1569+8G>T
|
rs577069180
|
|
NM_004863.4(SPTLC2):c.1570-13T>C
|
rs886050851
|
|
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=)
|
rs115191009
|
|
NM_004863.4(SPTLC2):c.620G>T (p.Arg207Leu)
|
rs751801159
|
|
NM_004863.4(SPTLC2):c.723G>A (p.Thr241=)
|
rs114519796
|
|
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=)
|
rs114519796
|
|
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser)
|
rs572378641
|
|
NM_005006.6(NDUFS1):c.-149T>G
|
rs572965960
|
|
NM_005006.7(NDUFS1):c.*1077A>T
|
rs917604810
|
|
NM_005006.7(NDUFS1):c.*457T>A
|
rs4147728
|
|
NM_005006.7(NDUFS1):c.*459A>G
|
rs1691173843
|
|
NM_005006.7(NDUFS1):c.*504G>A
|
rs548641207
|
|
NM_005006.7(NDUFS1):c.*53T>G
|
rs116335919
|
|
NM_005006.7(NDUFS1):c.*846del
|
rs58253838
|
|
NM_005006.7(NDUFS1):c.*846dup
|
rs58253838
|
|
NM_005006.7(NDUFS1):c.*864G>A
|
rs1691159722
|
|
NM_005006.7(NDUFS1):c.*93dup
|
rs200446477
|
|
NM_005006.7(NDUFS1):c.-101G>A
|
rs983757976
|
|
NM_005006.7(NDUFS1):c.-31A>G
|
rs1687818178
|
|
NM_005006.7(NDUFS1):c.-38T>G
|
rs1559071008
|
|
NM_005006.7(NDUFS1):c.-47C>G
|
rs4147707
|
|
NM_005006.7(NDUFS1):c.-73C>A
|
rs367649369
|
|
NM_005006.7(NDUFS1):c.-76G>A
|
rs116137442
|
|
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)
|
rs78042826
|
|
NM_005006.7(NDUFS1):c.1393-7del
|
rs760292289
|
|
NM_005006.7(NDUFS1):c.154-10_154-9del
|
rs568965659
|
|
NM_005006.7(NDUFS1):c.262-15del
|
rs34184317
|
|
NM_005006.7(NDUFS1):c.262-15dup
|
rs34184317
|
|
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)
|
rs1367512688
|
|
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)
|
rs1692265722
|
|
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)
|
rs1127566
|
|
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)
|
rs774232299
|
|
NM_005138.3(SCO2):c.-135_-132dup
|
rs143413019
|
|
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro)
|
rs140523
|
|
NM_005572.3(LMNA):c.-225C>A
|
rs886045355
|
|
NM_005572.3(LMNA):c.-226C>T
|
rs886045354
|
|
NM_005908.4(MANBA):c.*314A>G
|
rs886058966
|
|
NM_005908.4(MANBA):c.*328T>A
|
rs1729383430
|
|
NM_005908.4(MANBA):c.*503G>C
|
rs1022995879
|
|
NM_005908.4(MANBA):c.-58G>A
|
rs548442432
|
|
NM_005908.4(MANBA):c.1485+9T>C
|
rs199592616
|
|
NM_005908.4(MANBA):c.1705-13C>A
|
rs34754408
|
|
NM_005908.4(MANBA):c.1705-13C>T
|
rs34754408
|
|
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)
|
rs200033515
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)
|
rs2866413
|
|
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys)
|
rs763613927
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
NM_005908.4(MANBA):c.2415+1G>C
|
rs1284324018
|
|
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr)
|
rs182869272
|
|
NM_005908.4(MANBA):c.492C>T (p.Pro164=)
|
rs1722640489
|
|
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)
|
rs1724216325
|
|
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp)
|
rs1732436667
|
|
NM_005908.4(MANBA):c.77G>A (p.Arg26His)
|
rs767103860
|
|
NM_005908.4(MANBA):c.961-8C>A
|
rs886058969
|
|
NM_006096.3(NDRG1):c.-166A>C
|
rs985517616
|
|
NM_006096.4(NDRG1):c.*1179G>C
|
rs1041250053
|
|
NM_006096.4(NDRG1):c.*1296C>T
|
rs886062711
|
|
NM_006096.4(NDRG1):c.*1361C>A
|
rs887335765
|
|
NM_006096.4(NDRG1):c.*308C>T
|
rs995056665
|
|
NM_006096.4(NDRG1):c.*403G>A
|
rs954177065
|
|
NM_006096.4(NDRG1):c.*618T>G
|
rs886062713
|
|
NM_006096.4(NDRG1):c.*854G>A
|
rs576857084
|
|
NM_006096.4(NDRG1):c.-120C>T
|
rs11575971
|
|
NM_006096.4(NDRG1):c.-128C>T
|
rs886062719
|
|
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
|
rs568119325
|
|
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
|
rs1467447359
|
|
NM_006096.4(NDRG1):c.307G>C (p.Ala103Pro)
|
rs374160497
|
|
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
|
rs574238421
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)
|
rs1856400076
|
|
NM_006096.4(NDRG1):c.528C>G (p.Ala176=)
|
rs191237702
|
|
NM_006096.4(NDRG1):c.64-20dup
|
rs756038946
|
|
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
|
rs1310471207
|
|
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp)
|
rs141078746
|
|
NM_006158.4(NEFL):c.-183C>G
|
rs62503766
|
|
NM_006158.4(NEFL):c.-248C>G
|
rs927020136
|
|
NM_006158.4(NEFL):c.-258C>G
|
rs769348830
|
|
NM_006158.5(NEFL):c.*1153T>G
|
rs1802971132
|
|
NM_006158.5(NEFL):c.*1198G>C
|
rs4644268
|
|
NM_006158.5(NEFL):c.*1340_*1342del
|
rs886062829
|
|
NM_006158.5(NEFL):c.*1342A>G
|
rs886062830
|
|
NM_006158.5(NEFL):c.*1349T>G
|
rs886062828
|
|
NM_006158.5(NEFL):c.*1609_*1612del
|
rs886062826
|
|
NM_006158.5(NEFL):c.*235A>T
|
rs1059111
|
|
NM_006158.5(NEFL):c.*407_*408del
|
rs144391096
|
|
NM_006158.5(NEFL):c.*486T>G
|
rs562682645
|
|
NM_006158.5(NEFL):c.*565del
|
rs886062833
|
|
NM_006158.5(NEFL):c.*577T>C
|
rs886062832
|
|
NM_006158.5(NEFL):c.-68T>A
|
rs886062836
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
|
rs1803046250
|
|
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
|
rs1797704362
|
|
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
|
rs554279852
|
|
NM_006158.5(NEFL):c.638T>C (p.Ile213Thr)
|
rs2117254829
|
|
NM_006158.5(NEFL):c.717G>A (p.Gln239=)
|
rs1803041188
|
|
NM_006308.3(HSPB3):c.*11G>T
|
rs1761047037
|
|
NM_006308.3(HSPB3):c.*79C>T
|
rs898535055
|
|
NM_006308.3(HSPB3):c.158C>A (p.Ser53Tyr)
|
rs756831768
|
|
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro)
|
rs150931007
|
|
NM_006329.4(FBLN5):c.-139C>T
|
rs554315938
|
|
NM_006329.4(FBLN5):c.-389C>A
|
rs886050891
|
|
NM_006329.4(FBLN5):c.-428G>C
|
rs886050893
|
|
NM_006329.4(FBLN5):c.-77C>G
|
rs751344551
|
|
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu)
|
rs754104809
|
|
NM_006329.4(FBLN5):c.124+8C>A
|
rs2056089374
|
|
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys)
|
rs886050888
|
|
NM_006329.4(FBLN5):c.726C>G (p.Gly242=)
|
rs148209555
|
|
NM_006415.4(SPTLC1):c.*1307C>T
|
rs1832954866
|
|
NM_006415.4(SPTLC1):c.*190A>C
|
rs552433019
|
|
NM_006415.4(SPTLC1):c.*451G>A
|
rs868416931
|
|
NM_006415.4(SPTLC1):c.*451G>T
|
rs868416931
|
|
NM_006415.4(SPTLC1):c.*605T>C
|
rs1057515687
|
|
NM_006415.4(SPTLC1):c.*631G>C
|
rs1057515686
|
|
NM_006415.4(SPTLC1):c.*797T>G
|
rs1832969371
|
|
NM_006415.4(SPTLC1):c.1137-23GT[6]
|
rs147137401
|
|
NM_006415.4(SPTLC1):c.1160G>A (p.Gly387Glu)
|
rs119482084
|
|
NM_006415.4(SPTLC1):c.1226T>G (p.Val409Gly)
|
rs1293065103
|
|
NM_006415.4(SPTLC1):c.1329-9T>C
|
rs778388513
|
|
NM_006415.4(SPTLC1):c.25G>A (p.Val9Ile)
|
rs539660978
|
|
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu)
|
rs45461899
|
|
NM_006415.4(SPTLC1):c.707G>A (p.Arg236His)
|
rs765970732
|
|
NM_007103.3(NDUFV1):c.-111T>C
|
rs563140258
|
|
NM_007103.3(NDUFV1):c.-159G>T
|
rs1387676031
|
|
NM_007103.4(NDUFV1):c.*14C>T
|
rs886048590
|
|
NM_007103.4(NDUFV1):c.-34T>A
|
rs886048586
|
|
NM_007103.4(NDUFV1):c.-61A>G
|
rs947406124
|
|
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)
|
rs1854932368
|
|
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)
|
rs147719815
|
|
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu)
|
rs886048587
|
|
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn)
|
rs886048588
|
|
NM_007103.4(NDUFV1):c.432G>T (p.Val144=)
|
rs144087607
|
|
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu)
|
rs573896386
|
|
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val)
|
rs1432435322
|
|
NM_012073.4(CCT5):c.-112G>A
|
rs745933943
|
|
NM_012073.5(CCT5):c.*1174C>A
|
rs1746211625
|
|
NM_012073.5(CCT5):c.*1427G>A
|
rs191751648
|
|
NM_012073.5(CCT5):c.*1483G>A
|
rs1746230429
|
|
NM_012073.5(CCT5):c.*161C>T
|
rs1746148378
|
|
NM_012073.5(CCT5):c.*386T>C
|
rs533551114
|
|
NM_012073.5(CCT5):c.*513G>C
|
rs72738997
|
|
NM_012073.5(CCT5):c.*749A>G
|
rs1746183602
|
|
NM_012073.5(CCT5):c.*797G>A
|
rs1746187490
|
|
NM_012073.5(CCT5):c.*889C>A
|
rs1746194445
|
|
NM_012073.5(CCT5):c.1120A>G (p.Ile374Val)
|
rs1745970022
|
|
NM_012073.5(CCT5):c.1183A>G (p.Ile395Val)
|
rs781378409
|
|
NM_012073.5(CCT5):c.1216T>G (p.Leu406Val)
|
rs746067421
|
|
NM_012073.5(CCT5):c.1474G>C (p.Asp492His)
|
rs749250007
|
|
NM_012073.5(CCT5):c.918T>C (p.Phe306=)
|
rs1745924206
|
|
NM_012073.5(CCT5):c.968G>A (p.Arg323His)
|
rs1745927457
|
|
NM_012073.5(CCT5):c.994-13C>T
|
rs1745959498
|
|
NM_014317.5(PDSS1):c.*110_*113dup
|
rs144094307
|
|
NM_014317.5(PDSS1):c.*262T>C
|
rs886046937
|
|
NM_014317.5(PDSS1):c.1027-7_1027-6del
|
rs527296865
|
|
NM_014317.5(PDSS1):c.129+7T>C
|
rs886046934
|
|
NM_014317.5(PDSS1):c.163-5del
|
rs34296355
|
|
NM_014317.5(PDSS1):c.215_221del (p.Cys72fs)
|
rs1564416478
|
|
NM_014317.5(PDSS1):c.51G>A (p.Ala17=)
|
rs886046932
|
|
NM_014317.5(PDSS1):c.686C>T (p.Ser229Phe)
|
rs142182789
|
|
NM_014365.2(HSPB8):c.-489G>A
|
rs886049023
|
|
NM_014365.2(HSPB8):c.-522C>G
|
rs981936850
|
|
NM_014365.3(HSPB8):c.*330A>T
|
rs1954730443
|
|
NM_014365.3(HSPB8):c.*504T>C
|
rs886049027
|
|
NM_014365.3(HSPB8):c.*616C>G
|
rs6413487
|
|
NM_014365.3(HSPB8):c.*616C>T
|
rs6413487
|
|
NM_014365.3(HSPB8):c.*707_*720delinsAAAA
|
rs886049028
|
|
NM_014365.3(HSPB8):c.*848TAA[10]
|
rs60924821
|
|
NM_014365.3(HSPB8):c.*848TAA[9]
|
rs60924821
|
|
NM_014365.3(HSPB8):c.*860T>C
|
rs1223485106
|
|
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
NM_014845.6(FIG4):c.*150_*151del
|
rs886060986
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1889+9C>T
|
rs1777643262
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139
|
|
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg)
|
rs886060982
|
|
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser)
|
rs886060984
|
|
NM_014845.6(FIG4):c.2546+5G>C
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
NM_014874.3(MFN2):c.-217C>A
|
rs886045218
|
|
NM_014874.3(MFN2):c.-344C>T
|
rs886045216
|
|
NM_014874.4(MFN2):c.*1068C>T
|
rs886045229
|
|
NM_014874.4(MFN2):c.*121A>G
|
rs886045222
|
|
NM_014874.4(MFN2):c.*1258G>A
|
rs116156978
|
|
NM_014874.4(MFN2):c.*1392A>G
|
rs886045230
|
|
NM_014874.4(MFN2):c.*1640del
|
rs35943162
|
|
NM_014874.4(MFN2):c.*1640dup
|
rs35943162
|
|
NM_014874.4(MFN2):c.*1763G>A
|
rs1639769422
|
|
NM_014874.4(MFN2):c.*1797GTT[1]
|
rs140537612
|
|
NM_014874.4(MFN2):c.*221_*222dup
|
rs558848411
|
|
NM_014874.4(MFN2):c.*381C>A
|
rs966318629
|
|
NM_014874.4(MFN2):c.*57C>T
|
rs886045221
|
|
NM_014874.4(MFN2):c.*610del
|
rs747291228
|
|
NM_014874.4(MFN2):c.*864T>C
|
rs886045226
|
|
NM_014874.4(MFN2):c.*935G>T
|
rs886045228
|
|
NM_014874.4(MFN2):c.-80C>T
|
rs7538183
|
|
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter)
|
rs879253939
|
|
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)
|
rs1639333679
|
|
NM_014874.4(MFN2):c.153G>T (p.Gln51His)
|
rs886045219
|
|
NM_014874.4(MFN2):c.1631A>G (p.His544Arg)
|
rs1639384043
|
|
NM_014874.4(MFN2):c.1659G>A (p.Val553=)
|
rs886045220
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
rs1639390139
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.1938C>A (p.Val646=)
|
rs1040702840
|
|
NM_014874.4(MFN2):c.1950G>A (p.Leu650=)
|
rs772030424
|
|
NM_014874.4(MFN2):c.2211A>G (p.Lys737=)
|
rs1639694970
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
rs1557519001
|
|
NM_014874.4(MFN2):c.708G>A (p.Thr236=)
|
rs1557524867
|
|
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys)
|
rs863224066
|
|
NM_015046.5(SETX):c.-190G>A
|
rs1055615359
|
|
NM_015046.7(SETX):c.*1050A>C
|
rs1842477894
|
|
NM_015046.7(SETX):c.*1148T>C
|
rs138991890
|
|
NM_015046.7(SETX):c.*1148T>G
|
rs138991890
|
|
NM_015046.7(SETX):c.*1233A>G
|
rs1388263414
|
|
NM_015046.7(SETX):c.*1368G>A
|
rs7025
|
|
NM_015046.7(SETX):c.*1370G>C
|
rs116822064
|
|
NM_015046.7(SETX):c.*1433A>T
|
rs886063550
|
|
NM_015046.7(SETX):c.*1487A>G
|
rs1842460355
|
|
NM_015046.7(SETX):c.*1494A>G
|
rs1327797847
|
|
NM_015046.7(SETX):c.*1713C>T
|
rs771853459
|
|
NM_015046.7(SETX):c.*1987T>C
|
rs1589593075
|
|
NM_015046.7(SETX):c.*2002A>G
|
rs886063547
|
|
NM_015046.7(SETX):c.*2015C>T
|
rs552487555
|
|
NM_015046.7(SETX):c.*2136A>T
|
rs886063545
|
|
NM_015046.7(SETX):c.*2190A>G
|
rs531640605
|
|
NM_015046.7(SETX):c.*2576_*2577del
|
rs886063544
|
|
NM_015046.7(SETX):c.*2639T>C
|
rs886063543
|
|
NM_015046.7(SETX):c.*266A>G
|
rs575959163
|
|
NM_015046.7(SETX):c.*2753G>A
|
rs886063542
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
NM_015046.7(SETX):c.*608G>C
|
rs528924481
|
|
NM_015046.7(SETX):c.-154G>C
|
rs886063561
|
|
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)
|
rs886063559
|
|
NM_015046.7(SETX):c.156T>C (p.Asp52=)
|
rs1848476611
|
|
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)
|
rs886063557
|
|
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
|
rs1339144218
|
|
NM_015046.7(SETX):c.2517C>T (p.His839=)
|
rs1464623855
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
|
rs1847007637
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
|
rs766625711
|
|
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)
|
rs886063553
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
|
rs762175796
|
|
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)
|
rs886063552
|
|
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
|
rs1844714133
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
NM_015046.7(SETX):c.6106+8A>G
|
rs1314479594
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr)
|
rs1182285610
|
|
NM_015046.7(SETX):c.737C>G (p.Thr246Ser)
|
rs1847481832
|
|
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)
|
rs1842546596
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
|
rs1842537896
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.77C>G (p.Pro26Arg)
|
rs377617692
|
|
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)
|
rs765888424
|
|
NM_015046.7(SETX):c.988C>T (p.His330Tyr)
|
rs1847220041
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)
|
|
|
NM_016138.5(COQ7):c.1A>C (p.Met1Leu)
|
|
|
NM_016156.5(MTMR2):c.-222G>C
|
rs746848952
|
|
NM_016156.6(MTMR2):c.*1036C>T
|
rs1863154187
|
|
NM_016156.6(MTMR2):c.*1100_*1103dup
|
rs886048767
|
|
NM_016156.6(MTMR2):c.*1226_*1228del
|
rs142663762
|
|
NM_016156.6(MTMR2):c.*1249G>A
|
rs1863142451
|
|
NM_016156.6(MTMR2):c.*1339T>G
|
rs547240331
|
|
NM_016156.6(MTMR2):c.*1343_*1344del
|
rs886048765
|
|
NM_016156.6(MTMR2):c.*1425A>G
|
rs886048764
|
|
NM_016156.6(MTMR2):c.*1656T>G
|
rs1006542556
|
|
NM_016156.6(MTMR2):c.*1822T>G
|
rs562826516
|
|
NM_016156.6(MTMR2):c.*2038C>G
|
rs886048763
|
|
NM_016156.6(MTMR2):c.*239A>T
|
rs574781741
|
|
NM_016156.6(MTMR2):c.*345CT[1]
|
rs762396029
|
|
NM_016156.6(MTMR2):c.*810C>G
|
rs1863164114
|
|
NM_016156.6(MTMR2):c.*987T>C
|
rs57807625
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016156.6(MTMR2):c.186+5624TTTTA[6]
|
rs112378876
|
|
NM_016156.6(MTMR2):c.212C>T (p.Ala71Val)
|
rs886048772
|
|
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)
|
rs1864455547
|
|
NM_017929.5(PEX26):c.-164G>T
|
rs1926353199
|
|
NM_017929.5(PEX26):c.-207T>C
|
rs905580400
|
|
NM_018319.3(TDP1):c.-275C>G
|
rs886050881
|
|
NM_018319.4(TDP1):c.*1099G>A
|
rs1888617977
|
|
NM_018319.4(TDP1):c.*134A>C
|
rs780471860
|
|
NM_018319.4(TDP1):c.*135T>C
|
rs1566938109
|
|
NM_018319.4(TDP1):c.*1399T>A
|
rs1888638490
|
|
NM_018319.4(TDP1):c.*1511C>G
|
rs1596750474
|
|
NM_018319.4(TDP1):c.*932C>T
|
rs537989252
|
|
NM_018319.4(TDP1):c.-242T>G
|
rs533696578
|
|
NM_018319.4(TDP1):c.-243C>T
|
rs886873955
|
|
NM_018319.4(TDP1):c.-264G>A
|
rs1891509764
|
|
NM_018319.4(TDP1):c.-55C>G
|
rs751280891
|
|
NM_018319.4(TDP1):c.-76T>C
|
rs886050883
|
|
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe)
|
rs892739281
|
|
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter)
|
rs772318046
|
|
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly)
|
rs906821798
|
|
NM_018444.3(PDP1):c.-273T>A
|
rs4469422
|
|
NM_018444.4(PDP1):c.*1661del
|
rs60316663
|
|
NM_018444.4(PDP1):c.*724del
|
rs886063179
|
|
NM_018444.4(PDP1):c.*898CTT[1]
|
rs756226872
|
|
NM_018972.4(GDAP1):c.*1043G>C
|
rs762978513
|
|
NM_018972.4(GDAP1):c.*1124G>T
|
rs886063111
|
|
NM_018972.4(GDAP1):c.*1165C>G
|
rs1809586700
|
|
NM_018972.4(GDAP1):c.*1377C>T
|
rs886063112
|
|
NM_018972.4(GDAP1):c.*1639A>G
|
rs145245478
|
|
NM_018972.4(GDAP1):c.*1639A>T
|
rs145245478
|
|
NM_018972.4(GDAP1):c.*1779G>T
|
rs886063115
|
|
NM_018972.4(GDAP1):c.*2170A>G
|
rs886063117
|
|
NM_018972.4(GDAP1):c.*2298A>C
|
rs4551344
|
|
NM_018972.4(GDAP1):c.*451C>T
|
rs1809544520
|
|
NM_018972.4(GDAP1):c.*858G>T
|
rs761964880
|
|
NM_018972.4(GDAP1):c.*864G>C
|
rs886063108
|
|
NM_018972.4(GDAP1):c.*898A>G
|
rs886063109
|
|
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)
|
rs1808871593
|
|
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
|
rs121908115
|
|
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)
|
rs778557691
|
|
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
|
rs1809508613
|
|
NM_018979.4(WNK1):c.*1132_*1133del
|
rs546217405
|
|
NM_018979.4(WNK1):c.*1347del
|
rs886048817
|
|
NM_018979.4(WNK1):c.*1722ATTA[1]
|
rs561811313
|
|
NM_018979.4(WNK1):c.*1904CAC[5]
|
rs778502996
|
|
NM_018979.4(WNK1):c.*2192_*2196dup
|
rs568163399
|
|
NM_018979.4(WNK1):c.*2378_*2381dup
|
rs1399161251
|
|
NM_018979.4(WNK1):c.*2615_*2618dup
|
rs376351532
|
|
NM_018979.4(WNK1):c.*628del
|
rs886048808
|
|
NM_018979.4(WNK1):c.*628dup
|
rs886048808
|
|
NM_018979.4(WNK1):c.*654_*655del
|
rs560549119
|
|
NM_018979.4(WNK1):c.*762CT[1]
|
rs886048813
|
|
NM_018979.4(WNK1):c.*772_*776del
|
rs886048815
|
|
NM_018979.4(WNK1):c.-308G>T
|
rs886049861
|
|
NM_018979.4(WNK1):c.-351dup
|
rs886049860
|
|
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)
|
rs72650732
|
|
NM_018979.4(WNK1):c.5370G>T (p.Gln1790His)
|
rs773797682
|
|
NM_020247.5(COQ8A):c.*252A>C
|
rs886046070
|
|
NM_020247.5(COQ8A):c.*326C>G
|
rs886046071
|
|
NM_020247.5(COQ8A):c.*401A>G
|
rs1660167809
|
|
NM_020247.5(COQ8A):c.*497C>T
|
rs1660172039
|
|
NM_020247.5(COQ8A):c.*693G>T
|
rs886046074
|
|
NM_020247.5(COQ8A):c.*759T>C
|
rs1017095829
|
|
NM_020247.5(COQ8A):c.*761G>A
|
rs145779574
|
|
NM_020247.5(COQ8A):c.1163-10C>T
|
rs886046067
|
|
NM_020247.5(COQ8A):c.1256+11C>G
|
rs564593360
|
|
NM_020247.5(COQ8A):c.1398+12C>A
|
rs774158999
|
|
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)
|
rs12593
|
|
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser)
|
rs886046068
|
|
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)
|
rs886046069
|
|
NM_020247.5(COQ8A):c.1800C>T (p.Val600=)
|
rs74589348
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)
|
rs760566419
|
|
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys)
|
rs181579601
|
|
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala)
|
rs886046065
|
|
NM_020312.4(COQ9):c.*630A>G
|
rs886052184
|
|
NM_020312.4(COQ9):c.*74G>A
|
rs886052181
|
|
NM_020312.4(COQ9):c.-25C>T
|
rs547268811
|
|
NM_020312.4(COQ9):c.163C>A (p.Pro55Thr)
|
rs899467244
|
|
NM_020312.4(COQ9):c.404C>T (p.Ala135Val)
|
rs886052180
|
|
NM_020312.4(COQ9):c.73+9del
|
rs749532852
|
|
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly)
|
rs140264612
|
|
NM_020312.4(COQ9):c.812G>A (p.Arg271His)
|
rs774033422
|
|
NM_020312.4(COQ9):c.849G>C (p.Met283Ile)
|
rs863223939
|
|
NM_020381.4(PDSS2):c.*1886_*1887insAA
|
rs886060915
|
|
NM_020381.4(PDSS2):c.*2032dup
|
rs886060914
|
|
NM_020381.4(PDSS2):c.*544dup
|
rs35619837
|
|
NM_020631.4(PLEKHG5):c.*1158G>C
|
rs2986754
|
|
NM_020631.4(PLEKHG5):c.*1379_*1382delGGCG
|
rs45542640
|
|
NM_020631.4(PLEKHG5):c.*1405A>G
|
rs1644367397
|
|
NM_020631.4(PLEKHG5):c.*1413_*1420delAGAGCACG
|
rs45616733
|
|
NM_020631.4(PLEKHG5):c.*981dupC
|
rs553519753
|
|
NM_020631.5(PLEKHG5):c.*555T>A
|
rs886046494
|
|
NM_020631.5(PLEKHG5):c.*573G>A
|
rs1644399627
|
|
NM_020631.5(PLEKHG5):c.*697C>T
|
rs3176900
|
|
NM_020631.5(PLEKHG5):c.*750delC
|
rs886046493
|
|
NM_020631.5(PLEKHG5):c.*751delT
|
rs372197062
|
|
NM_020631.6(PLEKHG5):c.*363C>G
|
rs186882493
|
|
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr)
|
rs1475922783
|
|
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro)
|
rs759670081
|
|
NM_020631.6(PLEKHG5):c.2132A>G (p.Gln711Arg)
|
rs886046500
|
|
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020631.6(PLEKHG5):c.2410C>T (p.Pro804Ser)
|
rs886046499
|
|
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2612C>T (p.Pro871Leu)
|
rs886046498
|
|
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del)
|
rs536097668
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys)
|
rs886046502
|
|
NM_020631.6(PLEKHG5):c.806A>T (p.Lys269Met)
|
rs886046501
|
|
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly)
|
rs2132608027
|
|
NM_021619.3(PRDM12):c.788G>A (p.Arg263His)
|
rs2132608078
|
|
NM_021625.4(TRPV4):c.-92G>T
|
rs906360195
|
|
NM_021625.5(TRPV4):c.*145C>T
|
rs1889461810
|
|
NM_021625.5(TRPV4):c.*227A>G
|
rs1889456342
|
|
NM_021625.5(TRPV4):c.*2G>A
|
rs1889473862
|
|
NM_021625.5(TRPV4):c.*421G>A
|
rs1010774371
|
|
NM_021625.5(TRPV4):c.*83C>G
|
rs1360617913
|
|
NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val)
|
rs886048940
|
|
NM_021625.5(TRPV4):c.171T>C (p.Pro57=)
|
rs886048941
|
|
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg)
|
rs769225216
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
|
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)
|
rs1889714023
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr)
|
rs201642486
|
|
NM_021625.5(TRPV4):c.760G>A (p.Val254Met)
|
rs143548402
|
|
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)
|
rs1890720450
|
|
NM_021830.5(TWNK):c.*248G>A
|
rs1851850715
|
|
NM_021830.5(TWNK):c.*346A>C
|
rs1851852761
|
|
NM_021830.5(TWNK):c.*555G>A
|
rs886046635
|
|
NM_021830.5(TWNK):c.*747C>G
|
rs886046638
|
|
NM_021830.5(TWNK):c.-304G>A
|
rs200599543
|
|
NM_021830.5(TWNK):c.-423C>T
|
rs886046627
|
|
NM_021830.5(TWNK):c.-584G>C
|
rs1564806518
|
|
NM_021830.5(TWNK):c.-585T>G
|
rs886046624
|
|
NM_021830.5(TWNK):c.-622C>T
|
rs993449080
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
|
rs1274226715
|
|
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
|
rs1426435572
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
NM_021830.5(TWNK):c.276C>T (p.Gly92=)
|
rs886046631
|
|
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
|
rs1564807938
|
|
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)
|
rs772221026
|
|
NM_022041.4(GAN):c.*1454_*1455dup
|
rs3214897
|
|
NM_022041.4(GAN):c.*1455del
|
rs3214897
|
|
NM_022041.4(GAN):c.*1455dup
|
rs3214897
|
|
NM_022041.4(GAN):c.*1585T>C
|
rs886052344
|
|
NM_022041.4(GAN):c.*1659del
|
rs546229255
|
|
NM_022041.4(GAN):c.*1670C>T
|
rs569008014
|
|
NM_022041.4(GAN):c.*176G>T
|
rs1196229669
|
|
NM_022041.4(GAN):c.*1820G>A
|
rs561770690
|
|
NM_022041.4(GAN):c.*2125A>G
|
rs1904295878
|
|
NM_022041.4(GAN):c.*214C>T
|
rs886052338
|
|
NM_022041.4(GAN):c.*2280G>C
|
rs886052349
|
|
NM_022041.4(GAN):c.*2332del
|
rs533512036
|
|
NM_022041.4(GAN):c.*2332dup
|
rs533512036
|
|
NM_022041.4(GAN):c.*237T>A
|
rs113064319
|
|
NM_022041.4(GAN):c.*2457T>C
|
rs886052352
|
|
NM_022041.4(GAN):c.*2485A>G
|
rs886052353
|
|
NM_022041.4(GAN):c.*291A>G
|
rs541752526
|
|
NM_022041.4(GAN):c.*360G>A
|
rs886052339
|
|
NM_022041.4(GAN):c.*360G>T
|
rs886052339
|
|
NM_022041.4(GAN):c.*45T>C
|
rs886052337
|
|
NM_022041.4(GAN):c.*644T>C
|
rs1006920510
|
|
NM_022041.4(GAN):c.*733G>A
|
rs530029543
|
|
NM_022041.4(GAN):c.*964C>G
|
rs535218815
|
|
NM_022041.4(GAN):c.-111G>A
|
rs12929567
|
|
NM_022041.4(GAN):c.-126T>C
|
rs886052330
|
|
NM_022041.4(GAN):c.-15G>C
|
rs755662335
|
|
NM_022041.4(GAN):c.-70C>T
|
rs558816909
|
|
NM_022041.4(GAN):c.-75G>C
|
rs117642837
|
|
NM_022041.4(GAN):c.1183G>C (p.Asp395His)
|
rs142456623
|
|
NM_022041.4(GAN):c.148G>T (p.Ala50Ser)
|
rs761981181
|
|
NM_022041.4(GAN):c.1665C>G (p.His555Gln)
|
rs886052334
|
|
NM_022041.4(GAN):c.1699C>A (p.Arg567Ser)
|
rs886052335
|
|
NM_022041.4(GAN):c.1783C>T (p.His595Tyr)
|
rs757216350
|
|
NM_022041.4(GAN):c.440A>G (p.His147Arg)
|
rs763438490
|
|
NM_022041.4(GAN):c.56C>A (p.Ala19Glu)
|
rs886052332
|
|
NM_022041.4(GAN):c.633+1G>A
|
rs1597401738
|
|
NM_022124.6(CDH23):c.*588del
|
rs148667421
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|
NM_022489.4(INF2):c.2845G>A (p.Ala949Thr)
|
rs2140695225
|
|
NM_024407.5(NDUFS7):c.*13C>A
|
rs11551663
|
|
NM_024407.5(NDUFS7):c.*3CCG[4]
|
rs3065757
|
|
NM_024407.5(NDUFS7):c.*3CCG[5]
|
rs3065757
|
|
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=)
|
rs144570086
|
|
NM_024577.3(SH3TC2):c.-92C>T
|
rs886060200
|
|
NM_024577.4(SH3TC2):c.*10006A>T
|
rs201998002
|
|
NM_024577.4(SH3TC2):c.*10010A>T
|
rs886060145
|
|
NM_024577.4(SH3TC2):c.*10018A>T
|
rs866934630
|
|
NM_024577.4(SH3TC2):c.*10022A>T
|
rs56245745
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[13]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[14]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[16]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10060C>A
|
rs886060143
|
|
NM_024577.4(SH3TC2):c.*10068C>A
|
rs1042787317
|
|
NM_024577.4(SH3TC2):c.*10083A>G
|
rs886060141
|
|
NM_024577.4(SH3TC2):c.*10103A>T
|
rs754724940
|
|
NM_024577.4(SH3TC2):c.*10111_*10114del
|
rs777886659
|
|
NM_024577.4(SH3TC2):c.*10230A>C
|
rs1246060970
|
|
NM_024577.4(SH3TC2):c.*10395A>G
|
rs1753468263
|
|
NM_024577.4(SH3TC2):c.*10560T>C
|
rs1753464929
|
|
NM_024577.4(SH3TC2):c.*10614G>A
|
rs114217114
|
|
NM_024577.4(SH3TC2):c.*10756G>T
|
rs886060135
|
|
NM_024577.4(SH3TC2):c.*10765A>G
|
rs1753461440
|
|
NM_024577.4(SH3TC2):c.*10802A>T
|
rs547788921
|
|
NM_024577.4(SH3TC2):c.*11299C>G
|
rs547464453
|
|
NM_024577.4(SH3TC2):c.*11506C>T
|
rs886060131
|
|
NM_024577.4(SH3TC2):c.*11803A>G
|
rs1051316908
|
|
NM_024577.4(SH3TC2):c.*11934A>G
|
rs1753442184
|
|
NM_024577.4(SH3TC2):c.*12009T>C
|
rs1753441242
|
|
NM_024577.4(SH3TC2):c.*12108_*12110del
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12109_*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12111_*12112insAA
|
rs886060126
|
|
NM_024577.4(SH3TC2):c.*12114dup
|
rs886060125
|
|
NM_024577.4(SH3TC2):c.*12442A>G
|
rs56848629
|
|
NM_024577.4(SH3TC2):c.*12752T>A
|
rs886060120
|
|
NM_024577.4(SH3TC2):c.*13037G>A
|
rs769382913
|
|
NM_024577.4(SH3TC2):c.*13293T>C
|
rs886060119
|
|
NM_024577.4(SH3TC2):c.*14182A>G
|
rs374261707
|
|
NM_024577.4(SH3TC2):c.*14188C>T
|
rs532583447
|
|
NM_024577.4(SH3TC2):c.*1421A>C
|
rs1753627085
|
|
NM_024577.4(SH3TC2):c.*14397A>C
|
rs1753401888
|
|
NM_024577.4(SH3TC2):c.*14450A>C
|
rs758906397
|
|
NM_024577.4(SH3TC2):c.*14781C>A
|
rs886060117
|
|
NM_024577.4(SH3TC2):c.*147A>T
|
rs147796833
|
|
NM_024577.4(SH3TC2):c.*15049A>T
|
rs575869408
|
|
NM_024577.4(SH3TC2):c.*15311del
|
rs886060114
|
|
NM_024577.4(SH3TC2):c.*15483T>C
|
rs971207143
|
|
NM_024577.4(SH3TC2):c.*15823T>A
|
rs4562031
|
|
NM_024577.4(SH3TC2):c.*15877G>T
|
rs868551923
|
|
NM_024577.4(SH3TC2):c.*16015G>T
|
rs994438752
|
|
NM_024577.4(SH3TC2):c.*16174A>G
|
rs1753370916
|
|
NM_024577.4(SH3TC2):c.*16293C>G
|
rs1753368592
|
|
NM_024577.4(SH3TC2):c.*16402G>T
|
rs1753366817
|
|
NM_024577.4(SH3TC2):c.*16507C>T
|
rs886060111
|
|
NM_024577.4(SH3TC2):c.*16509A>G
|
rs886060110
|
|
NM_024577.4(SH3TC2):c.*16557T>A
|
rs1389655483
|
|
NM_024577.4(SH3TC2):c.*16711C>G
|
rs886060109
|
|
NM_024577.4(SH3TC2):c.*16856CA[21]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[24]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[26]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16902G>A
|
rs886060107
|
|
NM_024577.4(SH3TC2):c.*16953T>C
|
rs948858895
|
|
NM_024577.4(SH3TC2):c.*17036C>G
|
rs75086059
|
|
NM_024577.4(SH3TC2):c.*17036C>T
|
rs75086059
|
|
NM_024577.4(SH3TC2):c.*17301T>A
|
rs1012900530
|
|
NM_024577.4(SH3TC2):c.*17482A>G
|
rs1753346855
|
|
NM_024577.4(SH3TC2):c.*17837T>G
|
rs1753341216
|
|
NM_024577.4(SH3TC2):c.*18234G>A
|
rs886060102
|
|
NM_024577.4(SH3TC2):c.*18483dup
|
rs536826583
|
|
NM_024577.4(SH3TC2):c.*18635C>T
|
rs886060101
|
|
NM_024577.4(SH3TC2):c.*19111G>T
|
rs1753319859
|
|
NM_024577.4(SH3TC2):c.*19137C>G
|
rs773138258
|
|
NM_024577.4(SH3TC2):c.*19182A>C
|
rs886060100
|
|
NM_024577.4(SH3TC2):c.*19406A>G
|
rs72835351
|
|
NM_024577.4(SH3TC2):c.*19406A>T
|
rs72835351
|
|
NM_024577.4(SH3TC2):c.*1946_*1947del
|
rs397883732
|
|
NM_024577.4(SH3TC2):c.*19552G>T
|
rs1410058775
|
|
NM_024577.4(SH3TC2):c.*19563_*19564dup
|
rs5872105
|
|
NM_024577.4(SH3TC2):c.*19564dup
|
rs5872105
|
|
NM_024577.4(SH3TC2):c.*1979C>T
|
rs886060181
|
|
NM_024577.4(SH3TC2):c.*20086A>G
|
rs1753304105
|
|
NM_024577.4(SH3TC2):c.*20099T>C
|
rs73795728
|
|
NM_024577.4(SH3TC2):c.*20135C>T
|
rs1753303246
|
|
NM_024577.4(SH3TC2):c.*20564A>T
|
rs150905092
|
|
NM_024577.4(SH3TC2):c.*20919_*20920del
|
rs886060096
|
|
NM_024577.4(SH3TC2):c.*21087A>G
|
rs1753287119
|
|
NM_024577.4(SH3TC2):c.*21119G>T
|
rs1326174533
|
|
NM_024577.4(SH3TC2):c.*2141C>T
|
rs535223944
|
|
NM_024577.4(SH3TC2):c.*21474AAAC[2]
|
rs146796490
|
|
NM_024577.4(SH3TC2):c.*22035G>A
|
rs544954149
|
|
NM_024577.4(SH3TC2):c.*22291T>C
|
rs886060091
|
|
NM_024577.4(SH3TC2):c.*22552_*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*22553del
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*2923A>G
|
rs1033163196
|
|
NM_024577.4(SH3TC2):c.*3035C>A
|
rs183531576
|
|
NM_024577.4(SH3TC2):c.*3246A>C
|
rs73795732
|
|
NM_024577.4(SH3TC2):c.*3313G>A
|
rs1753595247
|
|
NM_024577.4(SH3TC2):c.*3438T>C
|
rs367587126
|
|
NM_024577.4(SH3TC2):c.*3464C>T
|
rs753332922
|
|
NM_024577.4(SH3TC2):c.*3497G>A
|
rs1753591981
|
|
NM_024577.4(SH3TC2):c.*3589G>T
|
rs1044470297
|
|
NM_024577.4(SH3TC2):c.*3946C>A
|
rs1753583783
|
|
NM_024577.4(SH3TC2):c.*4183T>C
|
rs886060176
|
|
NM_024577.4(SH3TC2):c.*4209A>G
|
rs886060175
|
|
NM_024577.4(SH3TC2):c.*4240C>A
|
rs765837919
|
|
NM_024577.4(SH3TC2):c.*4975T>C
|
rs1753565926
|
|
NM_024577.4(SH3TC2):c.*5020C>T
|
rs371723580
|
|
NM_024577.4(SH3TC2):c.*5279del
|
rs573168274
|
|
NM_024577.4(SH3TC2):c.*5350G>A
|
rs1753560296
|
|
NM_024577.4(SH3TC2):c.*5419G>A
|
rs886060169
|
|
NM_024577.4(SH3TC2):c.*5634C>A
|
rs565468168
|
|
NM_024577.4(SH3TC2):c.*574A>C
|
rs74964033
|
|
NM_024577.4(SH3TC2):c.*623T>C
|
rs886060190
|
|
NM_024577.4(SH3TC2):c.*6382T>C
|
rs528052888
|
|
NM_024577.4(SH3TC2):c.*6392C>A
|
rs114817736
|
|
NM_024577.4(SH3TC2):c.*6392C>T
|
rs114817736
|
|
NM_024577.4(SH3TC2):c.*6510G>A
|
rs116056843
|
|
NM_024577.4(SH3TC2):c.*6563_*6564del
|
rs368030230
|
|
NM_024577.4(SH3TC2):c.*6627C>T
|
rs536731603
|
|
NM_024577.4(SH3TC2):c.*6870ACA[1]
|
rs567997802
|
|
NM_024577.4(SH3TC2):c.*7016ATATT[1]
|
rs886060164
|
|
NM_024577.4(SH3TC2):c.*7152G>A
|
rs1753532056
|
|
NM_024577.4(SH3TC2):c.*7189C>G
|
rs886060163
|
|
NM_024577.4(SH3TC2):c.*7197G>C
|
rs886060162
|
|
NM_024577.4(SH3TC2):c.*7256A>C
|
rs886060161
|
|
NM_024577.4(SH3TC2):c.*7285G>C
|
rs886060160
|
|
NM_024577.4(SH3TC2):c.*7291G>A
|
rs748202204
|
|
NM_024577.4(SH3TC2):c.*7394A>G
|
rs886060158
|
|
NM_024577.4(SH3TC2):c.*7451C>T
|
rs114534145
|
|
NM_024577.4(SH3TC2):c.*7570G>A
|
rs886060157
|
|
NM_024577.4(SH3TC2):c.*8038A>G
|
rs988158680
|
|
NM_024577.4(SH3TC2):c.*8077A>G
|
rs886060156
|
|
NM_024577.4(SH3TC2):c.*8216T>C
|
rs886060155
|
|
NM_024577.4(SH3TC2):c.*8261G>A
|
rs1753511260
|
|
NM_024577.4(SH3TC2):c.*8349T>C
|
rs565407418
|
|
NM_024577.4(SH3TC2):c.*8364C>T
|
rs886060154
|
|
NM_024577.4(SH3TC2):c.*839del
|
rs886060189
|
|
NM_024577.4(SH3TC2):c.*8423T>C
|
rs10036103
|
|
NM_024577.4(SH3TC2):c.*8424CT[7]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*8424CT[9]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*858_*861del
|
rs5872107
|
|
NM_024577.4(SH3TC2):c.*8622del
|
rs562125931
|
|
NM_024577.4(SH3TC2):c.*862del
|
rs886060188
|
|
NM_024577.4(SH3TC2):c.*862dup
|
rs886060187
|
|
NM_024577.4(SH3TC2):c.*8692T>C
|
rs559844045
|
|
NM_024577.4(SH3TC2):c.*86C>T
|
rs886060194
|
|
NM_024577.4(SH3TC2):c.*9121del
|
rs886060149
|
|
NM_024577.4(SH3TC2):c.*9193A>G
|
rs543374482
|
|
NM_024577.4(SH3TC2):c.*9340G>C
|
rs886060147
|
|
NM_024577.4(SH3TC2):c.*9357T>C
|
rs147996031
|
|
NM_024577.4(SH3TC2):c.*9357T>G
|
rs147996031
|
|
NM_024577.4(SH3TC2):c.*9872T>C
|
rs545698794
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[11]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[14]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.*99G>A
|
rs886060193
|
|
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup)
|
rs886060198
|
|
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
|
rs200332172
|
|
NM_024577.4(SH3TC2):c.1831C>A (p.His611Asn)
|
rs886060197
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=)
|
rs886060196
|
|
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=)
|
rs886060199
|
|
NM_024577.4(SH3TC2):c.2657G>A (p.Ser886Asn)
|
rs780085307
|
|
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)
|
rs755006924
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)
|
rs886060195
|
|
NM_024577.4(SH3TC2):c.3676-13A>G
|
rs1753660598
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024577.4(SH3TC2):c.529+7G>A
|
rs747615694
|
|
NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys)
|
rs1754316511
|
|
NM_030962.4(SBF2):c.*154C>T
|
rs1590064987
|
|
NM_030962.4(SBF2):c.*375G>A
|
rs533676532
|
|
NM_030962.4(SBF2):c.*375G>C
|
rs533676532
|
|
NM_030962.4(SBF2):c.*447A>T
|
rs192282549
|
|
NM_030962.4(SBF2):c.*882T>C
|
rs886048775
|
|
NM_030962.4(SBF2):c.1413T>A (p.His471Gln)
|
rs769911496
|
|
NM_030962.4(SBF2):c.1601-4C>G
|
rs886048784
|
|
NM_030962.4(SBF2):c.1861-6T>C
|
rs77334447
|
|
NM_030962.4(SBF2):c.23T>G (p.Phe8Cys)
|
rs886047576
|
|
NM_030962.4(SBF2):c.2537-5C>T
|
rs886048783
|
|
NM_030962.4(SBF2):c.2611-35AATC[4]
|
rs202029370
|
|
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu)
|
rs1856598871
|
|
NM_030962.4(SBF2):c.2870C>A (p.Thr957Lys)
|
rs886048782
|
|
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu)
|
rs781742897
|
|
NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile)
|
rs1856494115
|
|
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser)
|
rs886048781
|
|
NM_030962.4(SBF2):c.3257-5C>G
|
rs886048780
|
|
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro)
|
rs762211340
|
|
NM_030962.4(SBF2):c.409C>G (p.Leu137Val)
|
rs200954150
|
|
NM_030962.4(SBF2):c.440G>A (p.Ser147Asn)
|
rs1949190497
|
|
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe)
|
rs1214507322
|
|
NM_030962.4(SBF2):c.4825T>G (p.Ser1609Ala)
|
rs1852579303
|
|
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.513+5A>G
|
rs1949186125
|
|
NM_030962.4(SBF2):c.5135G>A (p.Gly1712Glu)
|
rs757214892
|
|
NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly)
|
rs750756174
|
|
NM_030962.4(SBF2):c.5296G>A (p.Val1766Ile)
|
rs886048779
|
|
NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr)
|
rs886048778
|
|
NM_033305.2(VPS13A):c.-183G>A
|
rs12349389
|
|
NM_033305.2(VPS13A):c.-183G>C
|
rs12349389
|
|
NM_033305.2(VPS13A):c.-232G>C
|
rs545092496
|
|
NM_033305.2(VPS13A):c.-264G>C
|
rs542679691
|
|
NM_033305.3(VPS13A):c.*106T>G
|
rs1835160786
|
|
NM_033305.3(VPS13A):c.*1133A>C
|
rs182044001
|
|
NM_033305.3(VPS13A):c.*1248_*1251dup
|
rs1057515668
|
|
NM_033305.3(VPS13A):c.*133CAAA[1]
|
rs914078686
|
|
NM_033305.3(VPS13A):c.*274AGA[1]
|
rs147672353
|
|
NM_033305.3(VPS13A):c.*409A>G
|
rs975807327
|
|
NM_033305.3(VPS13A):c.*694C>A
|
rs115104076
|
|
NM_033305.3(VPS13A):c.*774_*776del
|
rs549219168
|
|
NM_033305.3(VPS13A):c.*81A>G
|
rs1057515661
|
|
NM_033305.3(VPS13A):c.*990T>A
|
rs1203318328
|
|
NM_033305.3(VPS13A):c.-16A>T
|
rs372360076
|
|
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=)
|
rs774931205
|
|
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg)
|
rs550188251
|
|
NM_033305.3(VPS13A):c.1596-10_1596-8del
|
rs748907586
|
|
NM_033305.3(VPS13A):c.159A>G (p.Val53=)
|
rs1057515645
|
|
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg)
|
rs1057515651
|
|
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu)
|
rs759600403
|
|
NM_033305.3(VPS13A):c.1900+9C>T
|
rs773690202
|
|
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His)
|
rs1389344705
|
|
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu)
|
rs1057515652
|
|
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met)
|
rs1826457641
|
|
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn)
|
rs1826653395
|
|
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp)
|
rs757651034
|
|
NM_033305.3(VPS13A):c.283+20del
|
rs199782752
|
|
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=)
|
rs1826936558
|
|
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala)
|
rs1248091059
|
|
NM_033305.3(VPS13A):c.295_297del (p.Asp99del)
|
rs759258746
|
|
NM_033305.3(VPS13A):c.3340-5_3340-3del
|
rs746510956
|
|
NM_033305.3(VPS13A):c.3961-6del
|
rs3216012
|
|
NM_033305.3(VPS13A):c.3961-6dup
|
rs3216012
|
|
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn)
|
rs1392223813
|
|
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys)
|
rs1829245513
|
|
NM_033305.3(VPS13A):c.496-9C>T
|
rs370541609
|
|
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val)
|
rs1829532129
|
|
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=)
|
rs1829726014
|
|
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=)
|
rs370144264
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp)
|
rs1826073644
|
|
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=)
|
rs1057515657
|
|
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val)
|
rs1287394997
|
|
NM_033305.3(VPS13A):c.6880-6dup
|
rs140476942
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser)
|
rs760875004
|
|
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala)
|
rs1057515659
|
|
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His)
|
rs774310423
|
|
NM_033305.3(VPS13A):c.8472-11G>T
|
rs1281741862
|
|
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val)
|
rs1057515660
|
|
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter)
|
rs773932109
|
|
NM_033305.3(VPS13A):c.989+28del
|
rs751974264
|
|
NM_078470.6(COX15):c.*1242A>G
|
rs2036459883
|
|
NM_078470.6(COX15):c.*1361C>T
|
rs886046610
|
|
NM_078470.6(COX15):c.*1793G>A
|
rs574149332
|
|
NM_078470.6(COX15):c.*1957A>C
|
rs2036431642
|
|
NM_078470.6(COX15):c.*2301G>A
|
rs79573437
|
|
NM_078470.6(COX15):c.*2301G>C
|
rs79573437
|
|
NM_078470.6(COX15):c.*2459G>T
|
rs886046605
|
|
NM_078470.6(COX15):c.*2490T>C
|
rs886046604
|
|
NM_078470.6(COX15):c.*2595C>T
|
rs574033399
|
|
NM_078470.6(COX15):c.*2668C>G
|
rs886046603
|
|
NM_078470.6(COX15):c.*3362T>C
|
rs1296504635
|
|
NM_078470.6(COX15):c.*3638C>T
|
rs2036362442
|
|
NM_078470.6(COX15):c.-26A>G
|
rs2231677
|
|
NM_078470.6(COX15):c.-71T>C
|
rs886046612
|
|
NM_078470.6(COX15):c.1029C>A (p.Leu343=)
|
rs757725009
|
|
NM_078470.6(COX15):c.406G>C (p.Asp136His)
|
rs766429756
|
|
NM_078470.6(COX15):c.717G>T (p.Trp239Cys)
|
rs886046611
|
|
NM_078470.6(COX15):c.988-3C>T
|
rs745556177
|
|
NM_078470.6(COX15):c.988-8C>A
|
rs542092025
|
|
NM_133259.4(LRPPRC):c.*1355C>T
|
rs1670301374
|
|
NM_133259.4(LRPPRC):c.*1387_*1390dup
|
rs886056048
|
|
NM_133259.4(LRPPRC):c.*1435del
|
rs886056047
|
|
NM_133259.4(LRPPRC):c.*1445_*1456dup
|
rs57494476
|
|
NM_133259.4(LRPPRC):c.*1449_*1456dup
|
rs57494476
|
|
NM_133259.4(LRPPRC):c.*1498G>A
|
rs142253135
|
|
NM_133259.4(LRPPRC):c.*1652C>G
|
rs1139249
|
|
NM_133259.4(LRPPRC):c.*1653G>T
|
rs886056045
|
|
NM_133259.4(LRPPRC):c.*1665C>G
|
rs1139250
|
|
NM_133259.4(LRPPRC):c.*1684C>A
|
rs190524585
|
|
NM_133259.4(LRPPRC):c.*1685G>A
|
rs774874630
|
|
NM_133259.4(LRPPRC):c.*1689G>T
|
rs185767322
|
|
NM_133259.4(LRPPRC):c.*1717C>T
|
rs1670288685
|
|
NM_133259.4(LRPPRC):c.*1752C>G
|
rs1670287619
|
|
NM_133259.4(LRPPRC):c.*1806A>C
|
rs886056044
|
|
NM_133259.4(LRPPRC):c.*1895G>T
|
rs886056042
|
|
NM_133259.4(LRPPRC):c.*2041C>A
|
rs7581308
|
|
NM_133259.4(LRPPRC):c.*2041C>T
|
rs7581308
|
|
NM_133259.4(LRPPRC):c.*2042G>T
|
rs998481979
|
|
NM_133259.4(LRPPRC):c.*2048dup
|
rs546907287
|
|
NM_133259.4(LRPPRC):c.*2157T>A
|
rs1376980323
|
|
NM_133259.4(LRPPRC):c.*590C>T
|
rs886056050
|
|
NM_133259.4(LRPPRC):c.*647G>C
|
rs886056049
|
|
NM_133259.4(LRPPRC):c.*735C>G
|
rs1670322978
|
|
NM_133259.4(LRPPRC):c.1038C>T (p.Val346=)
|
rs1673950899
|
|
NM_133259.4(LRPPRC):c.1156-13dup
|
rs747766605
|
|
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val)
|
rs886056058
|
|
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)
|
rs886056061
|
|
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)
|
rs886056057
|
|
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp)
|
rs571886021
|
|
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser)
|
rs1673163352
|
|
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=)
|
rs376787135
|
|
NM_133259.4(LRPPRC):c.1677+11C>G
|
rs58811869
|
|
NM_133259.4(LRPPRC):c.1735+5C>G
|
rs373476696
|
|
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val)
|
rs775978547
|
|
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg)
|
rs774104921
|
|
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His)
|
rs1672219378
|
|
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe)
|
rs886056055
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=)
|
rs768083517
|
|
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val)
|
rs1670882770
|
|
NM_133259.4(LRPPRC):c.346+9A>C
|
rs754438818
|
|
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser)
|
rs775734947
|
|
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val)
|
rs886056053
|
|
NM_133259.4(LRPPRC):c.441T>C (p.His147=)
|
rs886056060
|
|
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val)
|
rs1380043598
|
|
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
|
rs200686732
|
|
NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly)
|
rs143290138
|
|
NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn)
|
rs1559043209
|
|
NM_133259.4(LRPPRC):c.864+11T>G
|
rs193090896
|
|
NM_170707.4(LMNA):c.-142C>A
|
rs886045358
|
|
NM_170707.4(LMNA):c.-183C>A
|
rs886045357
|
|
NM_170707.4(LMNA):c.-5C>A
|
rs886045362
|
|
NM_170707.4(LMNA):c.-62C>A
|
rs886045361
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
rs505058
|
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1698+124C>T
|
rs1057516022
|
|
NM_170707.4(LMNA):c.356+12C>A
|
rs1649747809
|
|
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
|
rs1651418246
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
NM_174889.4(NDUFAF2):c.-110A>C
|
rs886060723
|
|
NM_174889.4(NDUFAF2):c.-91C>T
|
rs4647036
|
|
NM_174889.5(NDUFAF2):c.-23GC[3]
|
rs886060725
|
|
NM_174889.5(NDUFAF2):c.128-14C>G
|
rs537327206
|
|
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)
|
rs1752321893
|
|
NM_174936.3(PCSK9):c.-353G>T
|
rs886046425
|
|
NM_174936.4(PCSK9):c.*1154C>A
|
rs886046451
|
|
NM_174936.4(PCSK9):c.*1170_*1173dup
|
rs377553033
|
|
NM_174936.4(PCSK9):c.*1229G>T
|
rs886046453
|
|
NM_174936.4(PCSK9):c.*1247AAAC[2]
|
rs368406783
|
|
NM_174936.4(PCSK9):c.*152G>T
|
rs886046438
|
|
NM_174936.4(PCSK9):c.*274C>A
|
rs886046439
|
|
NM_174936.4(PCSK9):c.*404G>A
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*404G>C
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*426C>A
|
rs886046441
|
|
NM_174936.4(PCSK9):c.*448dup
|
rs72646533
|
|
NM_174936.4(PCSK9):c.*464C>A
|
rs886046442
|
|
NM_174936.4(PCSK9):c.*470G>A
|
rs886046443
|
|
NM_174936.4(PCSK9):c.*488C>A
|
rs886046444
|
|
NM_174936.4(PCSK9):c.*509C>A
|
rs886046445
|
|
NM_174936.4(PCSK9):c.*58A>G
|
rs886046437
|
|
NM_174936.4(PCSK9):c.*785C>A
|
rs886046448
|
|
NM_174936.4(PCSK9):c.*78C>T
|
rs757944328
|
|
NM_174936.4(PCSK9):c.*846G>T
|
rs886046449
|
|
NM_174936.4(PCSK9):c.-180T>G
|
rs886046431
|
|
NM_174936.4(PCSK9):c.-185A>G
|
rs886046430
|
|
NM_174936.4(PCSK9):c.-200C>A
|
rs886046429
|
|
NM_174936.4(PCSK9):c.-221T>G
|
rs886046428
|
|
NM_174936.4(PCSK9):c.-237T>G
|
rs886046427
|
|
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu)
|
rs886046432
|
|
NM_181882.3(PRX):c.-199+7G>C
|
rs541213273
|
|
NM_181882.3(PRX):c.1087C>G (p.Pro363Ala)
|
rs886054439
|
|
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
|
rs1035002145
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
rs768022787
|
|
NM_181882.3(PRX):c.184+3G>T
|
rs944519032
|
|
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
|
rs2079438528
|
|
NM_181882.3(PRX):c.1869T>G (p.Leu623=)
|
rs1241434904
|
|
NM_181882.3(PRX):c.1891C>G (p.Leu631Val)
|
rs886054438
|
|
NM_181882.3(PRX):c.2071A>C (p.Met691Leu)
|
rs886054437
|
|
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn)
|
rs779294844
|
|
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
|
rs760071236
|
|
NM_181882.3(PRX):c.2292C>G (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
|
rs1177784082
|
|
NM_181882.3(PRX):c.2697C>T (p.Pro899=)
|
rs778762350
|
|
NM_181882.3(PRX):c.2746G>C (p.Gly916Arg)
|
rs775152960
|
|
NM_181882.3(PRX):c.3220G>A (p.Ala1074Thr)
|
rs886054436
|
|
NM_181882.3(PRX):c.379C>T (p.Leu127=)
|
rs886054441
|
|
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys)
|
rs773955274
|
|
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu)
|
rs2079409567
|
|
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)
|
rs369072136
|
|
NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)
|
rs2079404139
|
|
NM_181882.3(PRX):c.445G>T (p.Ala149Ser)
|
rs142436391
|
|
NM_181882.3(PRX):c.844G>C (p.Ala282Pro)
|
rs769945580
|
|
NM_198252.3(GSN):c.*28G>A
|
rs376801564
|
|
NM_198252.3(GSN):c.-4C>G
|
rs2059919681
|
|
NM_198252.3(GSN):c.-9-2066_-9-2060del
|
rs1564468965
|
|
NM_198252.3(GSN):c.-9-2137C>T
|
rs886063404
|
|
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn)
|
rs142034230
|
|
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg)
|
rs780840732
|
|
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln)
|
rs528604896
|
|
NM_198252.3(GSN):c.1657C>G (p.Leu553Val)
|
rs2063344146
|
|
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys)
|
rs886063407
|
|
NM_198252.3(GSN):c.231C>A (p.Ala77=)
|
rs140734150
|
|
NM_198252.3(GSN):c.440T>C (p.Val147Ala)
|
rs2061027102
|
|
NM_198252.3(GSN):c.509G>C (p.Gly170Ala)
|
rs2061035565
|
|
NM_198252.3(GSN):c.914A>G (p.Lys305Arg)
|
rs2061970047
|
|
NM_198252.3(GSN):c.998G>T (p.Gly333Val)
|
rs1014328091
|
|