ClinVar Miner

List of variants reported as benign for anterior horn disorder by Invitae

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1038
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HGVS dbSNP gnomAD frequency
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

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