NM_005866.4(SIGMAR1):c.*31A>G
|
rs4879809
|
0.98825
|
NM_003334.4(UBA1):c.811+9C>G
|
rs4239964
|
0.98795
|
NM_213720.3(CHCHD10):c.261+11A>G
|
rs131444
|
0.92009
|
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=)
|
rs179468
|
0.91291
|
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)
|
rs11540913
|
0.82371
|
NM_001008212.2(OPTN):c.553-5C>T
|
rs2244380
|
0.80823
|
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_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_007126.5(VCP):c.811+3G>A
|
rs514492
|
0.75591
|
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_006308.3(HSPB3):c.369T>C (p.Gly123=)
|
rs7823
|
0.63826
|
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)
|
rs4935
|
0.62369
|
NM_007126.5(VCP):c.1695+8A>G
|
rs684562
|
0.54947
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_006308.3(HSPB3):c.282G>A (p.Leu94=)
|
rs7699
|
0.53709
|
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)
|
rs4797
|
0.53290
|
NM_004960.4(FUS):c.291C>T (p.Tyr97=)
|
rs1052352
|
0.45484
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_013254.4(TBK1):c.978T>A (p.Ile326=)
|
rs7486100
|
0.43650
|
NM_205836.3(FBXO38):c.1619-4G>T
|
rs11168047
|
0.42278
|
NM_205836.3(FBXO38):c.3170+11T>C
|
rs10051223
|
0.42229
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
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_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)
|
rs61741379
|
0.28900
|
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)
|
rs730600
|
0.27319
|
NM_205836.3(FBXO38):c.1774T>C (p.Ser592Pro)
|
rs10043775
|
0.27145
|
NM_006736.6(DNAJB2):c.66-14C>T
|
rs2276638
|
0.26148
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)
|
rs622082
|
0.24183
|
NM_004960.4(FUS):c.147C>A (p.Gly49=)
|
rs741810
|
0.24179
|
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)
|
rs546382
|
0.24174
|
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)
|
rs17612126
|
0.22387
|
NM_001008212.2(OPTN):c.369+39T>G
|
rs79529484
|
0.22121
|
NM_001008212.2(OPTN):c.166+66A>G
|
rs10906303
|
0.20691
|
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_205836.3(FBXO38):c.962+18A>G
|
rs10077690
|
0.20380
|
NM_001008212.2(OPTN):c.102G>A (p.Thr34=)
|
rs2234968
|
0.19474
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_020631.6(PLEKHG5):c.1681-20T>C
|
rs2986753
|
0.18735
|
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)
|
rs1800866
|
0.17661
|
NM_006736.6(DNAJB2):c.230-10G>A
|
rs3731897
|
0.16060
|
NM_007375.4(TARDBP):c.-13+95C>T
|
rs11121681
|
0.13481
|
NM_007375.3(TARDBP):c.-122G>A
|
rs11121679
|
0.13475
|
NM_003334.4(UBA1):c.1340G>A (p.Arg447His)
|
rs2070169
|
0.13373
|
NM_021815.5(SLC5A7):c.741+18C>T
|
rs3731684
|
0.13300
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_020631.6(PLEKHG5):c.1801-12C>A
|
rs943584
|
0.11198
|
NM_006736.6(DNAJB2):c.446-8G>A
|
rs3821039
|
0.10187
|
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)
|
rs62639695
|
0.10172
|
NM_004082.5(DCTN1):c.3610-20C>G
|
rs2268427
|
0.09345
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)
|
rs2279720
|
0.09131
|
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)
|
rs1044499
|
0.09006
|
NM_003334.4(UBA1):c.2220G>A (p.Pro740=)
|
rs2230147
|
0.08755
|
NM_003334.4(UBA1):c.1742-11G>C
|
rs5953010
|
0.08744
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_021815.5(SLC5A7):c.265A>G (p.Ile89Val)
|
rs1013940
|
0.07497
|
NM_020631.6(PLEKHG5):c.43+13G>A
|
rs78593902
|
0.07001
|
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=)
|
rs61739588
|
0.06946
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
NM_002180.3(IGHMBP2):c.1418+18A>G
|
rs112575423
|
0.06280
|
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr)
|
rs74809741
|
0.06203
|
NM_004960.4(FUS):c.190+9T>C
|
rs73530283
|
0.06048
|
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val)
|
rs61740145
|
0.06002
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)
|
rs3138150
|
0.05741
|
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)
|
rs76625876
|
0.05582
|
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=)
|
rs112471131
|
0.05506
|
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr)
|
rs111677724
|
0.05376
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=)
|
rs13429423
|
0.04117
|
NM_000454.4(SOD1):c.-109A>G
|
rs7277748
|
0.03982
|
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)
|
rs13420401
|
0.03855
|
NM_003334.4(UBA1):c.1742-18G>A
|
rs5953009
|
0.03846
|
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)
|
rs56092424
|
0.03763
|
NM_000454.5(SOD1):c.73-108T>A
|
rs16988404
|
0.03480
|
NM_004960.4(FUS):c.153C>T (p.Gly51=)
|
rs61733962
|
0.03329
|
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)
|
rs10058037
|
0.03284
|
NM_205836.3(FBXO38):c.2680G>A (p.Ala894Thr)
|
rs11949133
|
0.03254
|
NM_001008212.2(OPTN):c.626+24G>A
|
rs11258211
|
0.03152
|
NM_013254.4(TBK1):c.66T>C (p.Asn22=)
|
rs41292019
|
0.03018
|
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)
|
rs61737997
|
0.02621
|
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)
|
rs114619322
|
0.02505
|
NM_205836.3(FBXO38):c.2654-16T>C
|
rs147707335
|
0.02178
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=)
|
rs12115733
|
0.01994
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=)
|
rs11548642
|
0.01636
|
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)
|
rs3007419
|
0.01628
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_213720.3(CHCHD10):c.42-7C>G
|
rs567239313
|
0.01558
|
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)
|
rs55793208
|
0.01529
|
NM_205836.3(FBXO38):c.198A>G (p.Leu66=)
|
rs74863106
|
0.01529
|
NM_004960.4(FUS):c.1156C>A (p.Arg386=)
|
rs61733965
|
0.01496
|
NM_004960.4(FUS):c.524-5C>T
|
rs73530287
|
0.01495
|
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)
|
rs35635889
|
0.01470
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_018834.6(MATR3):c.1602+6A>G
|
rs80036770
|
0.01434
|
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys)
|
rs61748794
|
0.01418
|
NM_007126.5(VCP):c.18-5T>C
|
rs114256093
|
0.01353
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_004082.5(DCTN1):c.1288-3C>T
|
rs72466490
|
0.01285
|
NM_004082.5(DCTN1):c.34-11G>T
|
rs73948789
|
0.01216
|
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg)
|
rs34127289
|
0.01163
|
NM_020631.6(PLEKHG5):c.795+8G>A
|
rs114275646
|
0.01154
|
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)
|
rs624147
|
0.01079
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=)
|
rs61749272
|
0.00952
|
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206
|
0.00946
|
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)
|
rs140226523
|
0.00943
|
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)
|
rs11559048
|
0.00864
|
NM_001008212.2(OPTN):c.627-10T>C
|
rs80327830
|
0.00853
|
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=)
|
rs114209691
|
0.00830
|
NM_021815.5(SLC5A7):c.1245C>T (p.Ile415=)
|
rs149442049
|
0.00818
|
NM_013254.4(TBK1):c.2139-11G>A
|
rs41292027
|
0.00800
|
NM_002180.3(IGHMBP2):c.1757-18C>A
|
rs77247855
|
0.00796
|
NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser)
|
rs35258119
|
0.00768
|
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)
|
rs111527940
|
0.00755
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_000454.5(SOD1):c.170-20T>C
|
rs17885833
|
0.00737
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)
|
rs11591687
|
0.00729
|
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)
|
rs523747
|
0.00719
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_003334.4(UBA1):c.2308A>C (p.Asn770His)
|
rs143044923
|
0.00683
|
NM_007375.4(TARDBP):c.675A>G (p.Pro225=)
|
rs61741294
|
0.00675
|
NM_007126.5(VCP):c.1082-9G>T
|
rs12349922
|
0.00667
|
NM_015046.7(SETX):c.1968A>G (p.Val656=)
|
rs113997459
|
0.00654
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
NM_007126.5(VCP):c.1092C>T (p.Asp364=)
|
rs61752947
|
0.00619
|
NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu)
|
rs41270303
|
0.00612
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=)
|
rs138396245
|
0.00580
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
NM_003334.4(UBA1):c.2364C>T (p.Ala788=)
|
rs2228658
|
0.00548
|
NM_002180.3(IGHMBP2):c.1538-8C>G
|
rs115320302
|
0.00540
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)
|
rs77822399
|
0.00494
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
NM_001008212.2(OPTN):c.553-10G>A
|
rs11258210
|
0.00492
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser)
|
rs146651455
|
0.00463
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_001003800.2(BICD2):c.2258+15G>C
|
rs140501870
|
0.00450
|
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
|
rs148560273
|
0.00443
|
NM_020631.6(PLEKHG5):c.440-6A>G
|
rs202049535
|
0.00443
|
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)
|
rs61754130
|
0.00437
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)
|
rs34658653
|
0.00420
|
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser)
|
rs200831077
|
0.00420
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00412
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061
|
0.00398
|
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780
|
0.00392
|
NM_205836.3(FBXO38):c.593-13A>T
|
rs61555444
|
0.00390
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)
|
rs145177450
|
0.00356
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_013254.4(TBK1):c.1761-11C>T
|
rs145696668
|
0.00344
|
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)
|
rs34451610
|
0.00337
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=)
|
rs78245030
|
0.00330
|
NM_013254.4(TBK1):c.519G>A (p.Leu173=)
|
rs73313869
|
0.00315
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00313
|
NM_007126.5(VCP):c.1360-14C>G
|
rs144304208
|
0.00311
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)
|
rs61730366
|
0.00292
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_004960.4(FUS):c.636C>T (p.Asp212=)
|
rs147528034
|
0.00282
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
NM_003900.5(SQSTM1):c.755-90dup
|
rs145727617
|
0.00280
|
NM_013254.4(TBK1):c.9C>T (p.Ser3=)
|
rs115692983
|
0.00280
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
NM_003334.4(UBA1):c.346-3C>A
|
rs149947901
|
0.00271
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_001003800.2(BICD2):c.454-19T>C
|
rs114997314
|
0.00256
|
NM_205836.3(FBXO38):c.87T>C (p.Tyr29=)
|
rs77480566
|
0.00255
|
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)
|
rs148382699
|
0.00253
|
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys)
|
rs142776152
|
0.00253
|
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_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_003334.4(UBA1):c.2595A>G (p.Ala865=)
|
rs139492208
|
0.00247
|
NM_013254.4(TBK1):c.1522C>A (p.Leu508Ile)
|
rs144424516
|
0.00245
|
NM_003334.4(UBA1):c.1233+13G>A
|
rs141049438
|
0.00241
|
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)
|
rs143484278
|
0.00233
|
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)
|
rs141436407
|
0.00230
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)
|
rs138183274
|
0.00227
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=)
|
rs139061654
|
0.00215
|
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=)
|
rs10972178
|
0.00210
|
NM_004082.5(DCTN1):c.2761-18C>T
|
rs549475401
|
0.00209
|
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)
|
rs541251697
|
0.00208
|
NM_004960.4(FUS):c.273C>T (p.Tyr91=)
|
rs73530286
|
0.00196
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=)
|
rs150772386
|
0.00183
|
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met)
|
rs143763184
|
0.00179
|
NM_004960.4(FUS):c.675C>T (p.Gly225=)
|
rs140003720
|
0.00179
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)
|
rs139406455
|
0.00175
|
NM_020631.6(PLEKHG5):c.592-14C>T
|
rs554879611
|
0.00165
|
NM_003334.4(UBA1):c.2004-13C>T
|
rs201794720
|
0.00162
|
NM_015046.7(SETX):c.5781+10G>A
|
rs537414669
|
0.00159
|
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=)
|
rs61732221
|
0.00158
|
NM_013254.4(TBK1):c.1110C>T (p.Phe370=)
|
rs143590388
|
0.00155
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_213720.3(CHCHD10):c.41+7G>A
|
rs141526972
|
0.00147
|
NM_015046.7(SETX):c.5548+19A>G
|
rs201294921
|
0.00141
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr)
|
rs117505788
|
0.00136
|
NM_014043.4(CHMP2B):c.35-7C>T
|
rs200912994
|
0.00133
|
NM_021815.5(SLC5A7):c.477G>A (p.Val159=)
|
rs143203868
|
0.00133
|
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992
|
0.00130
|
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=)
|
rs140986485
|
0.00130
|
NM_015046.7(SETX):c.6936-11A>G
|
rs146193654
|
0.00129
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_003334.4(UBA1):c.480+19C>G
|
rs200340536
|
0.00125
|
NM_018834.6(MATR3):c.1347C>T (p.Ala449=)
|
rs141986556
|
0.00120
|
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)
|
rs146217031
|
0.00119
|
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=)
|
rs138300993
|
0.00118
|
NM_001008212.2(OPTN):c.876G>A (p.Pro292=)
|
rs151065414
|
0.00118
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_004738.5(VAPB):c.316-17A>C
|
rs201335617
|
0.00115
|
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)
|
rs78319441
|
0.00113
|
NM_001003800.2(BICD2):c.240+8G>T
|
rs371559371
|
0.00113
|
NM_007126.5(VCP):c.1081+17C>T
|
rs200756991
|
0.00113
|
NM_007375.4(TARDBP):c.24C>T (p.Thr8=)
|
rs72870030
|
0.00112
|
NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=)
|
rs149147021
|
0.00109
|
NM_013254.4(TBK1):c.135C>T (p.Phe45=)
|
rs11538420
|
0.00108
|
NM_020631.6(PLEKHG5):c.87G>A (p.Pro29=)
|
rs140892576
|
0.00107
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_001008212.2(OPTN):c.779+20G>A
|
rs79733653
|
0.00095
|
NM_003334.4(UBA1):c.909+12G>A
|
rs367556596
|
0.00095
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_015046.7(SETX):c.2124T>C (p.Ser708=)
|
rs139236924
|
0.00093
|
NM_003334.4(UBA1):c.117+9C>T
|
rs371344095
|
0.00088
|
NM_013254.4(TBK1):c.1227C>T (p.Asp409=)
|
rs150609728
|
0.00088
|
NM_001003800.2(BICD2):c.813C>T (p.Phe271=)
|
rs150389188
|
0.00086
|
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=)
|
rs142030960
|
0.00086
|
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=)
|
rs11228414
|
0.00085
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
NM_007375.4(TARDBP):c.544-17C>T
|
rs117557248
|
0.00085
|
NM_001003800.2(BICD2):c.240+20C>A
|
rs556051421
|
0.00083
|
NM_005866.4(SIGMAR1):c.151+15G>A
|
rs368822102
|
0.00083
|
NM_001003800.2(BICD2):c.72C>G (p.Ala24=)
|
rs545512590
|
0.00078
|
NM_004960.4(FUS):c.1464C>T (p.Gly488=)
|
rs150529460
|
0.00075
|
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=)
|
rs148984239
|
0.00073
|
NM_002180.3(IGHMBP2):c.1418+11C>T
|
rs201279838
|
0.00071
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
NM_003334.4(UBA1):c.648A>G (p.Pro216=)
|
rs146676571
|
0.00067
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)
|
rs150549628
|
0.00062
|
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=)
|
rs151133287
|
0.00061
|
NM_001008212.2(OPTN):c.1148+13A>G
|
rs368654623
|
0.00061
|
NM_004082.5(DCTN1):c.1998G>A (p.Thr666=)
|
rs149900553
|
0.00061
|
NM_013254.4(TBK1):c.1189+10G>A
|
rs185457813
|
0.00061
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
NM_001003800.2(BICD2):c.1348C>T (p.Arg450Cys)
|
rs201997144
|
0.00058
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00057
|
NM_004960.4(FUS):c.198T>C (p.Tyr66=)
|
rs144853447
|
0.00056
|
NM_003900.5(SQSTM1):c.969+20G>A
|
rs199696608
|
0.00054
|
NM_001008212.2(OPTN):c.1612+10G>A
|
rs191671333
|
0.00053
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
NM_000454.5(SOD1):c.72+19G>A
|
rs201574089
|
0.00051
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
NM_003334.4(UBA1):c.39C>T (p.Ser13=)
|
rs141450062
|
0.00048
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_004082.5(DCTN1):c.279+8C>T
|
rs376401397
|
0.00046
|
NM_001008212.2(OPTN):c.147C>T (p.Thr49=)
|
rs187734249
|
0.00045
|
NM_003334.4(UBA1):c.1137C>T (p.Asp379=)
|
rs143935711
|
0.00045
|
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=)
|
rs368860496
|
0.00044
|
NM_004738.5(VAPB):c.59-4A>G
|
rs193136039
|
0.00044
|
NM_001003800.2(BICD2):c.2012C>T (p.Ala671Val)
|
rs200086216
|
0.00040
|
NM_001003800.2(BICD2):c.454-7C>G
|
rs186469385
|
0.00040
|
NM_007126.5(VCP):c.832T>C (p.Leu278=)
|
rs200670526
|
0.00040
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448
|
0.00037
|
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613
|
0.00037
|
NC_000009.12:g.34638237A>T
|
rs148692127
|
0.00036
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_001003800.2(BICD2):c.861C>T (p.Asp287=)
|
rs768173580
|
0.00036
|
NM_004960.4(FUS):c.336-19_336-18insG
|
rs146048051
|
0.00036
|
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp)
|
rs532842754
|
0.00035
|
NM_003334.4(UBA1):c.1242C>T (p.Ser414=)
|
rs369843264
|
0.00035
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_003334.4(UBA1):c.176+13A>G
|
rs186890744
|
0.00034
|
NM_004960.4(FUS):c.684C>T (p.Gly228=)
|
rs151073460
|
0.00034
|
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
|
rs199921065
|
0.00034
|
NM_018834.6(MATR3):c.291A>G (p.Leu97=)
|
rs147239107
|
0.00034
|
NM_205836.3(FBXO38):c.1093+20A>C
|
rs140611091
|
0.00034
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_018834.6(MATR3):c.1130-5T>A
|
rs188905656
|
0.00033
|
NM_018834.6(MATR3):c.1893C>T (p.Ser631=)
|
rs143527811
|
0.00033
|
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)
|
rs140315612
|
0.00030
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)
|
rs148750997
|
0.00029
|
NM_205836.3(FBXO38):c.504T>C (p.Phe168=)
|
rs377754520
|
0.00029
|
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)
|
rs140838569
|
0.00028
|
NM_003334.4(UBA1):c.132C>T (p.Asn44=)
|
rs368727585
|
0.00028
|
NM_018834.6(MATR3):c.1183-5G>A
|
rs369464069
|
0.00028
|
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)
|
rs370666430
|
0.00028
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
NM_018834.6(MATR3):c.1130-4A>G
|
rs371701183
|
0.00027
|
NM_018834.6(MATR3):c.1435-20G>A
|
rs75623350
|
0.00027
|
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)
|
rs149736203
|
0.00026
|
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)
|
rs200388590
|
0.00026
|
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)
|
rs369470593
|
0.00026
|
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly)
|
rs142134306
|
0.00026
|
NM_205836.3(FBXO38):c.2985C>T (p.Pro995=)
|
rs144172824
|
0.00025
|
NM_001003800.2(BICD2):c.1842A>G (p.Pro614=)
|
rs200912578
|
0.00024
|
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr)
|
rs149478641
|
0.00024
|
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala)
|
rs72466493
|
0.00024
|
NM_004960.4(FUS):c.764+12A>C
|
rs143916861
|
0.00024
|
NM_007126.5(VCP):c.1482+18A>G
|
rs370501665
|
0.00024
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
NM_003334.4(UBA1):c.1296C>T (p.Leu432=)
|
rs147825775
|
0.00023
|
NM_003334.4(UBA1):c.2793G>T (p.Leu931=)
|
rs782340410
|
0.00023
|
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=)
|
rs115088049
|
0.00023
|
NM_004738.5(VAPB):c.105G>A (p.Pro35=)
|
rs141383583
|
0.00023
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
NM_004738.5(VAPB):c.528G>A (p.Leu176=)
|
rs199921117
|
0.00022
|
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)
|
rs138195434
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
0.00021
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
NM_001003800.2(BICD2):c.1192C>T (p.Arg398Trp)
|
rs189266003
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_205836.3(FBXO38):c.702A>G (p.Leu234=)
|
rs144011381
|
0.00020
|
NM_002180.3(IGHMBP2):c.366C>T (p.His122=)
|
rs144401213
|
0.00019
|
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)
|
rs199931327
|
0.00019
|
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)
|
rs148325203
|
0.00019
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr)
|
rs148487997
|
0.00019
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
NM_013254.4(TBK1):c.916C>A (p.Leu306Ile)
|
rs201970436
|
0.00018
|
NM_001003800.2(BICD2):c.1044G>A (p.Leu348=)
|
rs77530912
|
0.00017
|
NM_007126.5(VCP):c.2193C>T (p.Ile731=)
|
rs186657793
|
0.00017
|
NM_001003800.2(BICD2):c.1539C>T (p.Ala513=)
|
rs369575401
|
0.00016
|
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg)
|
rs146180431
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=)
|
rs372482596
|
0.00016
|
NM_006736.6(DNAJB2):c.65+15A>T
|
rs140751061
|
0.00016
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
NM_015046.7(SETX):c.498+14T>C
|
rs753336459
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
NM_004960.4(FUS):c.132C>T (p.Ser44=)
|
rs72550883
|
0.00015
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)
|
rs142998552
|
0.00014
|
NM_001003800.2(BICD2):c.2544G>A (p.Glu848=)
|
rs533026038
|
0.00014
|
NM_018834.6(MATR3):c.2283C>T (p.Asn761=)
|
rs189752689
|
0.00014
|
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)
|
rs141535376
|
0.00013
|
NM_001003800.2(BICD2):c.1453G>T (p.Val485Phe)
|
rs199519253
|
0.00013
|
NM_003334.4(UBA1):c.1149C>T (p.Ile383=)
|
rs782140742
|
0.00013
|
NM_020631.6(PLEKHG5):c.43+20G>T
|
rs200779049
|
0.00013
|
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)
|
rs149523862
|
0.00012
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
NM_003334.4(UBA1):c.2979C>T (p.Gly993=)
|
rs145283250
|
0.00012
|
NM_013254.4(TBK1):c.108T>C (p.Ala36=)
|
rs202056661
|
0.00012
|
NM_015046.7(SETX):c.3505A>G (p.Met1169Val)
|
rs573849874
|
0.00012
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_205836.3(FBXO38):c.510T>C (p.Asn170=)
|
rs760368532
|
0.00012
|
NM_001003800.2(BICD2):c.1680C>T (p.Gly560=)
|
rs371748461
|
0.00011
|
NM_003334.4(UBA1):c.812-4G>A
|
rs372842152
|
0.00011
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=)
|
rs201485072
|
0.00010
|
NM_003334.4(UBA1):c.1482C>T (p.Cys494=)
|
rs782484295
|
0.00010
|
NM_003334.4(UBA1):c.2003+12G>A
|
rs373695438
|
0.00010
|
NM_003334.4(UBA1):c.388G>C (p.Val130Leu)
|
rs782523969
|
0.00010
|
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg)
|
rs143800457
|
0.00010
|
NM_004960.4(FUS):c.1169-11A>G
|
rs181859716
|
0.00010
|
NM_013444.4(UBQLN2):c.51T>A (p.Pro17=)
|
rs371163085
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)
|
rs140892948
|
0.00010
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
NM_205836.3(FBXO38):c.1394G>A (p.Arg465His)
|
rs200187682
|
0.00010
|
NM_000052.7(ATP7A):c.2407-14G>T
|
rs782184126
|
0.00009
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
NM_001003800.2(BICD2):c.1401C>T (p.His467=)
|
rs144442734
|
0.00009
|
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)
|
rs200629777
|
0.00009
|
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)
|
rs185589110
|
0.00009
|
NM_004082.5(DCTN1):c.3573G>A (p.Gln1191=)
|
rs137966704
|
0.00009
|
NM_007126.5(VCP):c.1875G>T (p.Arg625=)
|
rs201410035
|
0.00009
|
NM_007126.5(VCP):c.2229G>A (p.Ala743=)
|
rs200767982
|
0.00009
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
NM_020631.6(PLEKHG5):c.1934-16G>A
|
rs201675267
|
0.00009
|
NM_021815.5(SLC5A7):c.1440A>G (p.Lys480=)
|
rs3731682
|
0.00009
|
NM_021815.5(SLC5A7):c.474T>C (p.Asp158=)
|
rs201965363
|
0.00009
|
NM_205836.3(FBXO38):c.1738+8T>A
|
rs369463389
|
0.00009
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)
|
rs781817601
|
0.00008
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
NM_001003800.2(BICD2):c.1370G>A (p.Arg457His)
|
rs370118099
|
0.00008
|
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val)
|
rs149891938
|
0.00008
|
NM_002180.3(IGHMBP2):c.548-20C>T
|
rs368802434
|
0.00008
|
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)
|
rs373305404
|
0.00008
|
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)
|
rs371005753
|
0.00008
|
NM_003334.4(UBA1):c.679-16C>T
|
rs200690232
|
0.00008
|
NM_004082.5(DCTN1):c.3546G>A (p.Ser1182=)
|
rs149440626
|
0.00008
|
NM_013254.4(TBK1):c.630A>T (p.Thr210=)
|
rs201336522
|
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.3640A>G (p.Arg1214Gly)
|
rs371687197
|
0.00008
|
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)
|
rs762267386
|
0.00008
|
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)
|
rs147705644
|
0.00008
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met)
|
rs781844108
|
0.00007
|
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)
|
rs782415705
|
0.00007
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile)
|
rs781873881
|
0.00007
|
NM_001003800.2(BICD2):c.1738C>T (p.Arg580Trp)
|
rs573861187
|
0.00007
|
NM_001003800.2(BICD2):c.2142G>C (p.Lys714Asn)
|
rs777986224
|
0.00007
|
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu)
|
rs781842141
|
0.00007
|
NM_003334.4(UBA1):c.253G>A (p.Val85Met)
|
rs782796398
|
0.00007
|
NM_003334.4(UBA1):c.720C>T (p.His240=)
|
rs193168226
|
0.00007
|
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=)
|
rs759543866
|
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_000052.7(ATP7A):c.2892T>C (p.Phe964=)
|
rs781832055
|
0.00006
|
NM_000052.7(ATP7A):c.493A>G (p.Met165Val)
|
rs782097214
|
0.00006
|
NM_001003800.2(BICD2):c.981G>A (p.Pro327=)
|
rs200288349
|
0.00006
|
NM_003334.4(UBA1):c.351C>T (p.Tyr117=)
|
rs782799228
|
0.00006
|
NM_003900.5(SQSTM1):c.378G>A (p.Val126=)
|
rs774780830
|
0.00006
|
NM_004738.5(VAPB):c.574-5C>T
|
rs200211497
|
0.00006
|
NM_004960.4(FUS):c.66G>A (p.Gly22=)
|
rs147877613
|
0.00006
|
NM_004960.4(FUS):c.833-17C>T
|
rs376953672
|
0.00006
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)
|
rs761877146
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)
|
rs181158146
|
0.00006
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)
|
rs376524608
|
0.00006
|
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr)
|
rs202121071
|
0.00006
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_015046.7(SETX):c.93A>G (p.Gln31=)
|
rs201795631
|
0.00006
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu)
|
rs782143115
|
0.00005
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg)
|
rs142985475
|
0.00005
|
NM_001003800.2(BICD2):c.1501C>T (p.Arg501Trp)
|
rs373224610
|
0.00005
|
NM_003334.4(UBA1):c.1197C>T (p.Ala399=)
|
rs782593880
|
0.00005
|
NM_003334.4(UBA1):c.1543C>A (p.Arg515=)
|
rs150198324
|
0.00005
|
NM_003334.4(UBA1):c.1791G>A (p.Glu597=)
|
rs372366129
|
0.00005
|
NM_003334.4(UBA1):c.2839-7C>T
|
rs199797125
|
0.00005
|
NM_003334.4(UBA1):c.678+18A>T
|
rs782509809
|
0.00005
|
NM_003334.4(UBA1):c.798G>A (p.Glu266=)
|
rs202041421
|
0.00005
|
NM_003900.5(SQSTM1):c.1165+9A>G
|
rs138885571
|
0.00005
|
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)
|
rs150204862
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val)
|
rs772368310
|
0.00005
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.2862G>A (p.Thr954=)
|
rs149610510
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)
|
rs61745659
|
0.00005
|
NM_015046.7(SETX):c.718+14C>A
|
rs762900574
|
0.00005
|
NM_015046.7(SETX):c.991A>G (p.Ile331Val)
|
rs572884359
|
0.00005
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)
|
rs188175511
|
0.00004
|
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=)
|
rs369055537
|
0.00004
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
NM_000052.7(ATP7A):c.765A>G (p.Leu255=)
|
rs781957871
|
0.00004
|
NM_001003800.2(BICD2):c.1421A>G (p.Tyr474Cys)
|
rs1014182946
|
0.00004
|
NM_001003800.2(BICD2):c.2469C>T (p.Ser823=)
|
rs199989045
|
0.00004
|
NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg)
|
rs756910200
|
0.00004
|
NM_001003800.2(BICD2):c.2541C>T (p.Ser847=)
|
rs775345022
|
0.00004
|
NM_001003800.2(BICD2):c.684T>G (p.Asp228Glu)
|
rs762107122
|
0.00004
|
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)
|
rs3750977
|
0.00004
|
NM_003334.4(UBA1):c.1610G>A (p.Arg537His)
|
rs372418523
|
0.00004
|
NM_003334.4(UBA1):c.177-11del
|
rs781797300
|
0.00004
|
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)
|
rs782085921
|
0.00004
|
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)
|
rs781864389
|
0.00004
|
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=)
|
rs182058393
|
0.00004
|
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=)
|
rs200889080
|
0.00004
|
NM_004082.5(DCTN1):c.2646C>T (p.Ser882=)
|
rs191073199
|
0.00004
|
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)
|
rs764995848
|
0.00004
|
NM_015046.7(SETX):c.2234G>A (p.Arg745His)
|
rs373933140
|
0.00004
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)
|
rs760535401
|
0.00004
|
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
|
rs376381668
|
0.00004
|
NM_015046.7(SETX):c.377A>G (p.His126Arg)
|
rs368932301
|
0.00004
|
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)
|
rs761119964
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
|
rs199748733
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
|
rs770469636
|
0.00004
|
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
NM_015046.7(SETX):c.77C>T (p.Pro26Leu)
|
rs377617692
|
0.00004
|
NM_015046.7(SETX):c.986G>A (p.Arg329Gln)
|
rs376077293
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
NM_018834.6(MATR3):c.2191T>C (p.Leu731=)
|
rs149714542
|
0.00004
|
NM_020631.6(PLEKHG5):c.771C>G (p.Gly257=)
|
rs200400689
|
0.00004
|
NM_205836.3(FBXO38):c.1527C>T (p.His509=)
|
rs182585967
|
0.00004
|
NM_205836.3(FBXO38):c.2751G>A (p.Val917=)
|
rs201169649
|
0.00004
|
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp)
|
rs782603364
|
0.00003
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
NM_000052.7(ATP7A):c.2406+15G>C
|
rs782547388
|
0.00003
|
NM_000052.7(ATP7A):c.2406+18G>A
|
rs1243579823
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.849T>C (p.Ile283=)
|
rs782773745
|
0.00003
|
NM_001003800.2(BICD2):c.1094C>T (p.Thr365Met)
|
rs374704553
|
0.00003
|
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852
|
0.00003
|
NM_003334.4(UBA1):c.1152G>A (p.Arg384=)
|
rs782140095
|
0.00003
|
NM_003334.4(UBA1):c.2004-12G>A
|
rs201583168
|
0.00003
|
NM_003334.4(UBA1):c.2275-7C>T
|
rs782291288
|
0.00003
|
NM_003334.4(UBA1):c.2661A>G (p.Ala887=)
|
rs782783941
|
0.00003
|
NM_003334.4(UBA1):c.2913C>T (p.Thr971=)
|
rs782810108
|
0.00003
|
NM_003334.4(UBA1):c.2982G>T (p.Val994=)
|
rs782156608
|
0.00003
|
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)
|
rs782084400
|
0.00003
|
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)
|
rs200206019
|
0.00003
|
NM_003900.5(SQSTM1):c.301+12C>G
|
rs141530539
|
0.00003
|
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile)
|
rs200973006
|
0.00003
|
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=)
|
rs147297927
|
0.00003
|
NM_004082.5(DCTN1):c.72C>T (p.Ala24=)
|
rs368633620
|
0.00003
|
NM_004960.4(FUS):c.237C>T (p.Gly79=)
|
rs535930927
|
0.00003
|
NM_007126.5(VCP):c.54A>G (p.Lys18=)
|
rs766042571
|
0.00003
|
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)
|
rs368859659
|
0.00003
|
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
|
rs761725498
|
0.00003
|
NM_015046.7(SETX):c.267A>G (p.Ile89Met)
|
rs767232097
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.2924C>T (p.Thr975Met)
|
rs200722368
|
0.00003
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe)
|
rs139559547
|
0.00003
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
|
rs756080695
|
0.00003
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00003
|
NM_015046.7(SETX):c.503G>A (p.Arg168Gln)
|
rs772017103
|
0.00003
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala)
|
rs372993859
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
NM_018834.6(MATR3):c.2494-14C>A
|
rs779597861
|
0.00003
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile)
|
rs782058395
|
0.00002
|
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
|
rs1308442670
|
0.00002
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=)
|
rs781835541
|
0.00002
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
NM_000052.7(ATP7A):c.4006-10C>T
|
rs782741784
|
0.00002
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
NM_001003800.2(BICD2):c.1534G>A (p.Val512Ile)
|
rs748921807
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln)
|
rs1261345480
|
0.00002
|
NM_003334.4(UBA1):c.1173T>C (p.Ala391=)
|
rs781783732
|
0.00002
|
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg)
|
rs888369922
|
0.00002
|
NM_003334.4(UBA1):c.1485G>A (p.Gly495=)
|
rs782721809
|
0.00002
|
NM_003334.4(UBA1):c.1818T>C (p.Asn606=)
|
rs782565505
|
0.00002
|
NM_003334.4(UBA1):c.210C>T (p.Leu70=)
|
rs191969626
|
0.00002
|
NM_003334.4(UBA1):c.2460T>C (p.Ser820=)
|
rs782208544
|
0.00002
|
NM_003334.4(UBA1):c.2724G>A (p.Glu908=)
|
rs376593996
|
0.00002
|
NM_003334.4(UBA1):c.2928C>T (p.Leu976=)
|
rs782070102
|
0.00002
|
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu)
|
rs1185350232
|
0.00002
|
NM_003334.4(UBA1):c.486G>A (p.Val162=)
|
rs370643219
|
0.00002
|
NM_004082.5(DCTN1):c.1702-7C>T
|
rs554887316
|
0.00002
|
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=)
|
rs146094433
|
0.00002
|
NM_007126.5(VCP):c.2214A>G (p.Glu738=)
|
rs374391034
|
0.00002
|
NM_007126.5(VCP):c.812-7C>G
|
rs764429197
|
0.00002
|
NM_007375.4(TARDBP):c.238+9C>T
|
rs376560308
|
0.00002
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
0.00002
|
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala)
|
rs1481664998
|
0.00002
|
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)
|
rs200459144
|
0.00002
|
NM_015046.7(SETX):c.2425A>G (p.Ile809Val)
|
rs906452681
|
0.00002
|
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)
|
rs765768857
|
0.00002
|
NM_015046.7(SETX):c.343C>G (p.Leu115Val)
|
rs538372427
|
0.00002
|
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)
|
rs138167195
|
0.00002
|
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu)
|
rs773081186
|
0.00002
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr)
|
rs202047872
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.477T>A (p.Phe159Leu)
|
rs1473646250
|
0.00002
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)
|
rs747913385
|
0.00002
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-10C>T
|
rs201656051
|
0.00002
|
NM_205836.3(FBXO38):c.2858-18A>G
|
rs376871117
|
0.00002
|
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=)
|
rs782744809
|
0.00001
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
|
rs377651753
|
0.00001
|
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala)
|
rs1023683992
|
0.00001
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
|
rs782260602
|
0.00001
|
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=)
|
rs782505602
|
0.00001
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met)
|
rs777065935
|
0.00001
|
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)
|
rs555741399
|
0.00001
|
NM_003334.4(UBA1):c.117+16G>A
|
rs375750779
|
0.00001
|
NM_003334.4(UBA1):c.1339-9A>G
|
rs782104383
|
0.00001
|
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys)
|
rs570568650
|
0.00001
|
NM_003334.4(UBA1):c.2053T>C (p.Leu685=)
|
rs781839671
|
0.00001
|
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)
|
rs782425809
|
0.00001
|
NM_003334.4(UBA1):c.2118C>T (p.Cys706=)
|
rs782597501
|
0.00001
|
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser)
|
rs781800261
|
0.00001
|
NM_003334.4(UBA1):c.2742G>C (p.Gln914His)
|
rs1487402125
|
0.00001
|
NM_003334.4(UBA1):c.2941-14C>T
|
rs782755186
|
0.00001
|
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=)
|
rs371268375
|
0.00001
|
NM_004082.5(DCTN1):c.2629-4G>A
|
rs201090138
|
0.00001
|
NM_004738.5(VAPB):c.681G>A (p.Leu227=)
|
rs778389082
|
0.00001
|
NM_007126.5(VCP):c.1407A>G (p.Val469=)
|
rs761430933
|
0.00001
|
NM_007126.5(VCP):c.2160+8T>G
|
rs564249854
|
0.00001
|
NM_007126.5(VCP):c.465T>G (p.Arg155=)
|
rs765140312
|
0.00001
|
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=)
|
rs1271440811
|
0.00001
|
NM_013444.4(UBQLN2):c.717G>A (p.Arg239=)
|
rs762742451
|
0.00001
|
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)
|
rs1482836809
|
0.00001
|
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys)
|
rs773035724
|
0.00001
|
NM_015046.7(SETX):c.1889C>T (p.Thr630Met)
|
rs749132753
|
0.00001
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
NM_015046.7(SETX):c.208A>G (p.Ile70Val)
|
rs747469176
|
0.00001
|
NM_015046.7(SETX):c.2119A>G (p.Ile707Val)
|
rs1419145387
|
0.00001
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)
|
rs780121182
|
0.00001
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
NM_015046.7(SETX):c.2427C>G (p.Ile809Met)
|
rs765654690
|
0.00001
|
NM_015046.7(SETX):c.245G>A (p.Gly82Glu)
|
rs201864041
|
0.00001
|
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)
|
rs1375463032
|
0.00001
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
NM_015046.7(SETX):c.301A>G (p.Ile101Val)
|
rs376848704
|
0.00001
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
0.00001
|
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile)
|
rs773068299
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp)
|
rs200072123
|
0.00001
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)
|
rs375796832
|
0.00001
|
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe)
|
rs750526955
|
0.00001
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00001
|
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val)
|
rs558075773
|
0.00001
|
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys)
|
rs752179261
|
0.00001
|
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)
|
rs567825753
|
0.00001
|
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys)
|
rs762808367
|
0.00001
|
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)
|
rs770527045
|
0.00001
|
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)
|
rs766799310
|
0.00001
|
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu)
|
rs1249423284
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg)
|
rs377620145
|
0.00001
|
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser)
|
rs747493129
|
0.00001
|
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)
|
rs141440621
|
0.00001
|
NM_015046.7(SETX):c.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)
|
rs546932016
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.64G>A (p.Ala22Thr)
|
rs756600708
|
0.00001
|
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu)
|
rs752107891
|
0.00001
|
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met)
|
rs201629099
|
0.00001
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)
|
rs755711135
|
0.00001
|
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg)
|
rs756715534
|
0.00001
|
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)
|
rs1240232139
|
0.00001
|
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)
|
rs145345675
|
0.00001
|
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala)
|
rs905773255
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val)
|
rs144706487
|
0.00001
|
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)
|
rs779793402
|
0.00001
|
NM_015046.7(SETX):c.808A>G (p.Ile270Val)
|
rs1387745582
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.964G>A (p.Ala322Thr)
|
rs540348550
|
0.00001
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
NM_020631.6(PLEKHG5):c.2250-13C>T
|
rs547780813
|
0.00001
|
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=)
|
rs773624292
|
0.00001
|
NC_000009.12:g.34637993_34637994delinsAA
|
rs371780375
|
|
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
|
|
|
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
|
|
|
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
|
|
|
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
|
|
|
NM_000052.7(ATP7A):c.1707+16del
|
|
|
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile)
|
rs372116692
|
|
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
|
|
|
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
|
|
|
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
|
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
NM_000052.7(ATP7A):c.2172+8_2172+12dup
|
rs782170618
|
|
NM_000052.7(ATP7A):c.2173-15A>G
|
|
|
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
|
|
|
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
|
|
|
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
|
|
|
NM_000052.7(ATP7A):c.2406+20C>T
|
|
|
NM_000052.7(ATP7A):c.2407-10del
|
|
|
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)
|
rs782768766
|
|
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
|
|
|
NM_000052.7(ATP7A):c.2782-17_2782-15del
|
|
|
NM_000052.7(ATP7A):c.3112-5dup
|
rs1569550186
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_000052.7(ATP7A):c.3294+12dup
|
rs1223290704
|
|
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
|
|
|
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
|
|
|
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
|
|
|
NM_000052.7(ATP7A):c.3801+13G>T
|
|
|
NM_000052.7(ATP7A):c.3802-12T>C
|
|
|
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
NM_000052.7(ATP7A):c.4005+12G>A
|
|
|
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
|
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
|
|
|
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
|
|
|
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
|
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
|
|
|
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
|
|
|
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
|
|
|
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
|
|
|
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
|
|
|
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
|
|
|
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
|
|
|
NM_000454.5(SOD1):c.169+52_169+58del
|
rs541000032
|
|
NM_001003800.2(BICD2):c.1290C>T (p.Asn430=)
|
|
|
NM_001003800.2(BICD2):c.1530C>T (p.Ser510=)
|
|
|
NM_001003800.2(BICD2):c.1536C>T (p.Val512=)
|
|
|
NM_001003800.2(BICD2):c.1739G>A (p.Arg580Gln)
|
rs775229197
|
|
NM_001003800.2(BICD2):c.2058G>A (p.Lys686=)
|
|
|
NM_001003800.2(BICD2):c.2106+14C>T
|
|
|
NM_001003800.2(BICD2):c.2258+17C>T
|
rs554612134
|
|
NM_001003800.2(BICD2):c.2258+18G>A
|
rs376177099
|
|
NM_001003800.2(BICD2):c.2313T>A (p.Ala771=)
|
|
|
NM_001003800.2(BICD2):c.2497G>A (p.Asp833Asn)
|
|
|
NM_001003800.2(BICD2):c.453+9G>T
|
rs202189685
|
|
NM_001008212.2(OPTN):c.1402-11del
|
|
|
NM_001008212.2(OPTN):c.1402-7C>T
|
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001008212.2(OPTN):c.964= (p.Glu322=)
|
|
|
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
|
|
|
NM_002180.3(IGHMBP2):c.1538-20C>T
|
rs147148090
|
|
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.2870A>G (p.Lys957Arg)
|
rs572019890
|
|
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.86+7G>C
|
rs527948004
|
|
NM_003334.4(UBA1):c.1233+20G>C
|
|
|
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
|
|
|
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
|
|
|
NM_003334.4(UBA1):c.1695C>T (p.Phe565=)
|
rs782804501
|
|
NM_003334.4(UBA1):c.177-13C>T
|
|
|
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
|
|
|
NM_003334.4(UBA1):c.2003+10T>C
|
|
|
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
|
|
|
NM_003334.4(UBA1):c.2275-17G>A
|
|
|
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
|
|
|
NM_003334.4(UBA1):c.2646+11T>A
|
rs367788670
|
|
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
|
|
|
NM_003334.4(UBA1):c.2839-13_2839-12del
|
|
|
NM_003334.4(UBA1):c.430G>A (p.Val144Ile)
|
rs781887272
|
|
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
|
|
|
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
|
|
|
NM_003334.4(UBA1):c.587+21del
|
|
|
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
NM_003900.5(SQSTM1):c.1166-14_1166-11del
|
rs538853972
|
|
NM_003900.5(SQSTM1):c.674-7dup
|
rs761346520
|
|
NM_003900.5(SQSTM1):c.755-12C>G
|
|
|
NM_004082.5(DCTN1):c.1585-16C>T
|
|
|
NM_004082.5(DCTN1):c.1854+20T>A
|
rs369606521
|
|
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)
|
rs150928856
|
|
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)
|
|
|
NM_004082.5(DCTN1):c.2761-19C>G
|
rs200545447
|
|
NM_004082.5(DCTN1):c.280-34_280-12dup
|
rs762313810
|
|
NM_004082.5(DCTN1):c.3212-14dup
|
|
|
NM_004082.5(DCTN1):c.3408T>C (p.His1136=)
|
|
|
NM_004082.5(DCTN1):c.3529+8C>T
|
rs547520298
|
|
NM_004082.5(DCTN1):c.3699+12_3699+23del
|
rs769645845
|
|
NM_004082.5(DCTN1):c.3699+18del
|
|
|
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
|
|
|
NM_004082.5(DCTN1):c.393+16del
|
rs529200706
|
|
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.858G>T (p.Ala286=)
|
rs151107870
|
|
NM_004082.5(DCTN1):c.999C>T (p.Asp333=)
|
rs200952455
|
|
NM_004738.5(VAPB):c.-33C>G
|
rs201547974
|
|
NM_004738.5(VAPB):c.156C>T (p.Tyr52=)
|
rs749580878
|
|
NM_004738.5(VAPB):c.316-3del
|
|
|
NM_004738.5(VAPB):c.59-20G>A
|
|
|
NM_004960.4(FUS):c.1292+22dup
|
rs572228309
|
|
NM_004960.4(FUS):c.144A>G (p.Ser48=)
|
|
|
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
|
|
|
NM_004960.4(FUS):c.336-19_336-16del
|
rs755482297
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004960.4(FUS):c.524-13dup
|
rs755045476
|
|
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.702C>T (p.Arg234=)
|
rs149785330
|
|
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln)
|
rs150931007
|
|
NM_006736.6(DNAJB2):c.66-18T>C
|
|
|
NM_007126.5(VCP):c.1082-18_1082-8dup
|
rs11272867
|
|
NM_007375.4(TARDBP):c.238+21dup
|
|
|
NM_007375.4(TARDBP):c.239-18T>C
|
|
|
NM_007375.4(TARDBP):c.792C>T (p.His264=)
|
|
|
NM_013254.4(TBK1):c.1341-3del
|
rs201728462
|
|
NM_013254.4(TBK1):c.1796C>T (p.Thr599Met)
|
|
|
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del)
|
rs141727722
|
|
NM_013254.4(TBK1):c.1960-10G>T
|
rs371275822
|
|
NM_013254.4(TBK1):c.201T>C (p.Ile67=)
|
|
|
NM_013254.4(TBK1):c.229-4dup
|
rs57810028
|
|
NM_013254.4(TBK1):c.229-5_229-4dup
|
|
|
NM_013254.4(TBK1):c.358+13A>G
|
|
|
NM_013254.4(TBK1):c.541-9del
|
rs369498196
|
|
NM_013254.4(TBK1):c.541-9dup
|
rs369498196
|
|
NM_013254.4(TBK1):c.812+18A>G
|
|
|
NM_013254.4(TBK1):c.992+13A>G
|
|
|
NM_013254.4(TBK1):c.992+21_992+23del
|
rs138753162
|
|
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)
|
|
|
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=)
|
|
|
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
|
|
|
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)
|
|
|
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)
|
|
|
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)
|
|
|
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)
|
|
|
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
|
|
|
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
|
|
|
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
|
|
|
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
|
|
|
NM_015046.7(SETX):c.1576A>G (p.Met526Val)
|
rs762013471
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
|
|
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
|
|
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
|
|
|
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
|
|
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
|
|
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
|
|
|
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
|
|
|
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
|
|
|
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
|
|
|
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
|
|
|
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
|
|
|
NM_015046.7(SETX):c.2267A>T (p.Glu756Val)
|
rs202036078
|
|
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
|
|
|
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
|
|
|
NM_015046.7(SETX):c.2415C>T (p.Val805=)
|
|
|
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
|
|
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
|
|
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys)
|
rs544815791
|
|
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
|
|
|
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
|
|
|
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
|
|
|
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
|
|
|
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
|
|
|
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
|
|
|
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
|
|
|
NM_015046.7(SETX):c.2988A>G (p.Arg996=)
|
rs1358681495
|
|
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
|
|
|
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly)
|
rs768510428
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
|
|
|
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
|
|
|
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
|
|
|
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
|
|
|
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
|
|
|
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
|
|
|
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser)
|
rs545072717
|
|
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
|
|
|
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
|
|
|
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
|
|
|
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala)
|
rs141996565
|
|
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)
|
rs149558692
|
|
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
|
|
|
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
|
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
|
|
|
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
|
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
|
|
|
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
|
|
|
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
|
|
|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
|
|
|
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
|
|
|
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
|
|
|
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
|
|
|
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
|
|
|
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)
|
rs746807833
|
|
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
|
|
|
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
|
|
|
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu)
|
rs776238150
|
|
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
|
|
|
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
|
|
|
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg)
|
rs150918808
|
|
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
|
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
|
|
|
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
|
|
|
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
|
|
|
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
|
|
|
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
|
|
|
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
|
|
|
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
|
|
|
NM_015046.7(SETX):c.5275-14del
|
rs761232500
|
|
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
|
|
|
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
|
|
|
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
|
|
|
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
|
|
|
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
|
|
|
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
|
|
|
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro)
|
rs761031238
|
|
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
|
|
|
NM_015046.7(SETX):c.6209-19dup
|
|
|
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
|
|
|
NM_015046.7(SETX):c.6325-5dup
|
|
|
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
|
|
|
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
|
|
|
NM_015046.7(SETX):c.667C>G (p.Leu223Val)
|
rs774068411
|
|
NM_015046.7(SETX):c.682A>G (p.Met228Val)
|
|
|
NM_015046.7(SETX):c.6842+11dup
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
|
|
|
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
|
|
|
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
|
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
|
|
|
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)
|
rs1402767850
|
|
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
|
|
|
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
|
|
|
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
|
|
|
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
|
|
|
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
|
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
|
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)
|
rs144121978
|
|
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
|
|
|
NM_015046.7(SETX):c.7810G>A (p.Val2604Met)
|
rs757554863
|
|
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
|
|
|
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
|
|
|
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
|
|
|
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
|
|
|
NM_015046.7(SETX):c.896G>A (p.Arg299His)
|
|
|
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
|
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_018834.6(MATR3):c.1603-17T>C
|
rs199789148
|
|
NM_018834.6(MATR3):c.1778+19del
|
rs753454728
|
|
NM_018834.6(MATR3):c.1779-20GT[2]
|
rs779005896
|
|
NM_018834.6(MATR3):c.2494-12_2494-11del
|
rs756391139
|
|
NM_020631.6(PLEKHG5):c.1393-8dup
|
|
|
NM_020631.6(PLEKHG5):c.1801-15del
|
rs750991690
|
|
NM_020631.6(PLEKHG5):c.1801-15dup
|
|
|
NM_020631.6(PLEKHG5):c.210+14dup
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
|
|
|
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs)
|
rs201182604
|
|
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=)
|
rs80031446
|
|
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.302+10_302+11delinsTT
|
rs1553175406
|
|
NM_020631.6(PLEKHG5):c.302+16del
|
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_020631.6(PLEKHG5):c.591+15del
|
|
|
NM_205836.3(FBXO38):c.1739-4del
|
|
|
NM_205836.3(FBXO38):c.1739-4dup
|
|
|
NM_205836.3(FBXO38):c.2440G>T (p.Ala814Ser)
|
|
|
NM_205836.3(FBXO38):c.2857+21_2857+23del
|
rs143121025
|
|
NM_205836.3(FBXO38):c.3357C>T (p.Phe1119=)
|
rs577469242
|
|
NM_205836.3(FBXO38):c.731-5dup
|
rs201558003
|
|
NM_205836.3(FBXO38):c.731-6_731-5dup
|
rs201558003
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|