NM_018972.4(GDAP1):c.694+24C>T
|
rs4463412
|
0.99998
|
NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
NM_018972.4(GDAP1):c.117+28G>A
|
rs4321999
|
0.99293
|
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=)
|
rs1615510
|
0.99092
|
NM_000399.5(EGR2):c.627= (p.Pro209=)
|
rs224083
|
0.98414
|
NM_022489.4(INF2):c.105C>T (p.Pro35=)
|
rs4983530
|
0.98049
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu)
|
rs1279138
|
0.96677
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_018706.7(DHTKD1):c.2320-25A>G
|
rs2399771
|
0.95721
|
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=)
|
rs1701472
|
0.95314
|
NM_001358263.1(HK1):c.75+5174A>G
|
rs906220
|
0.89921
|
NM_022489.4(INF2):c.2640T>C (p.Asp880=)
|
rs10133301
|
0.88426
|
NM_030962.4(SBF2):c.4571-6C>T
|
rs2645029
|
0.88084
|
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=)
|
rs1722462
|
0.87799
|
NM_001605.3(AARS1):c.2715T>C (p.Val905=)
|
rs4081753
|
0.85676
|
NM_021076.4(NEFH):c.2232T>C (p.Ala744=)
|
rs165923
|
0.82375
|
NM_021076.4(NEFH):c.2784A>G (p.Val928=)
|
rs165625
|
0.80626
|
NM_000188.3(HK1):c.1443G>A (p.Lys481=)
|
rs748235
|
0.80224
|
NM_022489.4(INF2):c.3066T>C (p.Asp1022=)
|
rs4983535
|
0.79980
|
NM_030962.4(SBF2):c.3455+36C>T
|
rs7483882
|
0.79947
|
NM_198681.4(PLEKHG5):c.-267G>A
|
rs1556035
|
0.77574
|
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)
|
rs560096
|
0.76511
|
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_007126.5(VCP):c.1360-35A>G
|
rs2258240
|
0.75740
|
NM_007126.5(VCP):c.811+3G>A
|
rs514492
|
0.75591
|
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp)
|
rs1539567
|
0.75123
|
NM_001005373.4(LRSAM1):c.1912+5A>C
|
rs2248822
|
0.74956
|
NM_000263.4(NAGLU):c.531+50G>C
|
rs2071046
|
0.74899
|
NM_018706.7(DHTKD1):c.1671+35C>G
|
rs10906076
|
0.72736
|
NM_002972.4(SBF1):c.3905-31T>C
|
rs4824117
|
0.72013
|
NM_000188.3(HK1):c.1839+31G>A
|
rs749105
|
0.70672
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_006096.4(NDRG1):c.64-6T>C
|
rs2272653
|
0.65276
|
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=)
|
rs2243906
|
0.61095
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
NM_022489.4(INF2):c.2310+8del
|
rs3840006
|
0.58720
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_000188.3(HK1):c.2219+27T>C
|
rs2278745
|
0.56586
|
NM_001005361.3(DNM2):c.236-29C>G
|
rs3826803
|
0.56569
|
NM_007126.5(VCP):c.1695+8A>G
|
rs684562
|
0.54947
|
NM_002972.4(SBF1):c.1431+27G>A
|
rs2076714
|
0.53065
|
NM_002972.4(SBF1):c.5559T>C (p.Thr1853=)
|
rs1053744
|
0.52056
|
NM_015271.5(TRIM2):c.1032G>A (p.Thr344=)
|
rs893805
|
0.51938
|
NM_002047.4(GARS1):c.659-43C>A
|
rs1558064
|
0.49314
|
NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp)
|
rs3740015
|
0.47407
|
NM_021629.4(GNB4):c.117T>C (p.Ser39=)
|
rs1362650
|
0.46787
|
NM_018706.7(DHTKD1):c.310+40C>T
|
rs10906066
|
0.46492
|
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met)
|
rs2651369
|
0.45332
|
NM_002677.5(PMP2):c.*12T>C
|
rs6473276
|
0.44966
|
NM_001136472.2(LITAF):c.220+42C>T
|
rs3743582
|
0.44408
|
NM_001005373.4(LRSAM1):c.904-9C>T
|
rs1539568
|
0.43695
|
NM_030962.4(SBF2):c.4156-46C>T
|
rs11042500
|
0.43551
|
NM_006096.4(NDRG1):c.538-132G>C
|
rs2272650
|
0.41873
|
NM_001303256.3(MORC2):c.96C>T (p.Ala32=)
|
rs737924
|
0.40756
|
NM_001303256.3(MORC2):c.1437A>G (p.Pro479=)
|
rs3747151
|
0.39939
|
NM_007254.4(PNKP):c.498+23A>T
|
rs1290649
|
0.39505
|
NM_001370298.3(FGD4):c.1248-37T>A
|
rs4931641
|
0.39058
|
NM_000188.3(HK1):c.78C>G (p.Leu26=)
|
rs1133189
|
0.36523
|
NM_002972.4(SBF1):c.56-27G>T
|
rs9616852
|
0.36389
|
NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
0.34581
|
NM_001370298.3(FGD4):c.2046+37A>G
|
rs7970584
|
0.34437
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_006096.4(NDRG1):c.699-51A>C
|
rs2233335
|
0.31793
|
NM_030962.4(SBF2):c.*40A>C
|
rs3751000
|
0.30738
|
NM_002972.4(SBF1):c.3284-31C>T
|
rs2073278
|
0.30661
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_001303256.3(MORC2):c.378C>G (p.Thr126=)
|
rs2072132
|
0.29850
|
NM_006096.4(NDRG1):c.450+61A>G
|
rs2272651
|
0.29847
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)
|
rs61741379
|
0.28900
|
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=)
|
rs566204
|
0.28363
|
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874
|
0.27654
|
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_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
NM_006096.4(NDRG1):c.855+148T>C
|
rs2233339
|
0.26454
|
NM_001365951.3(KIF1B):c.720+17C>T
|
rs1339458
|
0.25792
|
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=)
|
rs11052110
|
0.25239
|
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_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
NM_002437.5(MPV17):c.462-21T>C
|
rs62130714
|
0.23408
|
NM_014845.6(FIG4):c.1948+46C>A
|
rs9320315
|
0.23093
|
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_015271.5(TRIM2):c.215+39G>A
|
rs1470104
|
0.20908
|
NM_001376.5(DYNC1H1):c.4396-25A>G
|
rs2251644
|
0.20803
|
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_001376.5(DYNC1H1):c.8344-30G>A
|
rs2180510
|
0.20452
|
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=)
|
rs5771001
|
0.20075
|
NM_002972.4(SBF1):c.3688+31C>T
|
rs2281439
|
0.19323
|
NM_001376.5(DYNC1H1):c.1462-41G>A
|
rs2983422
|
0.19200
|
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)
|
rs5763269
|
0.19153
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_002180.3(IGHMBP2):c.-2C>T
|
rs4930624
|
0.18778
|
NM_020631.6(PLEKHG5):c.1681-20T>C
|
rs2986753
|
0.18735
|
NM_007126.5(VCP):c.129+47G>A
|
rs10972300
|
0.17835
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_001376.5(DYNC1H1):c.3333+23A>G
|
rs4900529
|
0.15530
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)
|
rs165602
|
0.14527
|
NM_002972.4(SBF1):c.4087-25C>T
|
rs2076713
|
0.14256
|
NM_021076.4(NEFH):c.1200C>T (p.Ala400=)
|
rs165734
|
0.12411
|
NM_000701.8(ATP1A1):c.741C>A (p.Thr247=)
|
rs12079419
|
0.12034
|
NM_000701.8(ATP1A1):c.637-17C>T
|
rs12079355
|
0.11276
|
NM_006096.4(NDRG1):c.756-5C>T
|
rs2227262
|
0.11176
|
NM_006096.4(NDRG1):c.698+84A>G
|
rs11575973
|
0.10802
|
NM_002972.4(SBF1):c.55+33G>A
|
rs149886696
|
0.10536
|
NM_006096.4(NDRG1):c.891+39C>A
|
rs2233341
|
0.09513
|
NM_000701.8(ATP1A1):c.3043+38T>C
|
rs10924083
|
0.08938
|
NM_000701.8(ATP1A1):c.2952-37C>T
|
rs12136995
|
0.08895
|
NM_000701.8(ATP1A1):c.3043+8T>C
|
rs12139437
|
0.08884
|
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=)
|
rs58335489
|
0.08274
|
NM_000701.8(ATP1A1):c.1024-64G>A
|
rs41464748
|
0.07904
|
NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=)
|
rs11540956
|
0.07885
|
NM_002972.4(SBF1):c.2106G>A (p.Thr702=)
|
rs5771037
|
0.06512
|
NM_006096.4(NDRG1):c.755+10T>C
|
rs2233336
|
0.06123
|
NM_001303256.3(MORC2):c.966A>T (p.Gly322=)
|
rs16989204
|
0.05416
|
NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=)
|
rs9567
|
0.04948
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803
|
0.02130
|
NM_025137.4(SPG11):c.6754+19A>G
|
rs116635875
|
0.02121
|
NM_001303256.3(MORC2):c.699-20T>C
|
rs78973434
|
0.01322
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_001303256.3(MORC2):c.234T>G (p.Ala78=)
|
rs140792905
|
0.00599
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00596
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)
|
rs41279971
|
0.00436
|
NM_001303256.3(MORC2):c.1737+4C>T
|
rs5997814
|
0.00421
|
NM_001303256.3(MORC2):c.158-12del
|
rs66613527
|
0.00343
|
NM_001303256.3(MORC2):c.2747+5_2747+6del
|
rs67357185
|
0.00339
|
NM_001303256.3(MORC2):c.226+18T>C
|
rs114021247
|
0.00279
|
NM_001303256.3(MORC2):c.63A>G (p.Thr21=)
|
rs73156742
|
0.00230
|
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)
|
rs41279975
|
0.00227
|
NM_001303256.3(MORC2):c.2841+20C>T
|
rs192723178
|
0.00218
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)
|
rs146972491
|
0.00078
|
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)
|
rs144493873
|
0.00061
|
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=)
|
rs144039896
|
0.00060
|
NM_001303256.3(MORC2):c.2193+15C>T
|
rs201301518
|
0.00055
|
NM_001303256.3(MORC2):c.1499-9T>C
|
rs201213165
|
0.00047
|
NM_001303256.3(MORC2):c.3030+9G>C
|
rs200086094
|
0.00022
|
NM_025137.4(SPG11):c.732C>T (p.Asp244=)
|
rs745572647
|
0.00002
|
NM_001303256.3(MORC2):c.894A>G (p.Val298=)
|
rs562612569
|
0.00001
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
NM_000701.8(ATP1A1):c.1024-100T>G
|
rs56016633
|
|
NM_000701.8(ATP1A1):c.1223-32G>A
|
rs12130872
|
|
NM_000701.8(ATP1A1):c.1974-14del
|
rs77990511
|
|
NM_000701.8(ATP1A1):c.755-77A>T
|
rs12134095
|
|
NM_001358263.1(HK1):c.75+23T>C
|
rs4746837
|
|
NM_001370298.3(FGD4):c.846C>T (p.Asp282=)
|
rs904582
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
NM_002972.4(SBF1):c.1968+40C>A
|
rs9617014
|
|
NM_002972.4(SBF1):c.2840-43C>G
|
rs2073280
|
|
NM_006096.4(NDRG1):c.327-33C>T
|
rs2233327
|
|
NM_006096.4(NDRG1):c.327-48C>G
|
rs2233326
|
|
NM_014845.6(FIG4):c.446+32dup
|
rs11459279
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_015271.5(TRIM2):c.405T>G (p.Thr135=)
|
rs2289409
|
|
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met)
|
rs2062988
|
|
NM_020631.6(PLEKHG5):c.1393-22dup
|
rs111312565
|
|
NM_022489.4(INF2):c.3207A>C (p.Pro1069=)
|
rs1128840
|
|
NM_022489.4(INF2):c.3207A>G (p.Pro1069=)
|
rs1128840
|
|
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030
|
|
NM_025137.4(SPG11):c.2445-20del
|
rs374899647
|
|