ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 895
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HGVS dbSNP gnomAD frequency
NM_004960.3(FUS):c.*1476T>C rs11860134 0.98998
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_018325.5(C9orf72):c.665+115_665+117dup rs3063748 0.98615
NM_020919.4(ALS2):c.4123-64G>A rs1210940 0.97856
NM_004960.4(FUS):c.-54A>G rs929867 0.95117
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_020919.4(ALS2):c.4627-69T>A rs3219171 0.89021
NM_020919.4(ALS2):c.4581-48T>C rs3219170 0.89015
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) rs3219156 0.86916
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_020919.4(ALS2):c.4004+25C>T rs3219167 0.81578
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_007126.5(VCP):c.1360-35A>G rs2258240 0.75740
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_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_020919.4(ALS2):c.2171-62C>T rs3731703 0.54921
NM_199189.2(MATR3):c.-610C>G rs11242456 0.53822
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_018834.6(MATR3):c.*1288T>G rs10515507 0.51394
NM_018834.6(MATR3):c.*672G>A rs7305 0.50625
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_004738.5(VAPB):c.*5250T>C rs6015274 0.49186
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_005235.3(ERBB4):c.1490-15T>C rs4673628 0.45282
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_013254.4(TBK1):c.978T>A (p.Ile326=) rs7486100 0.43650
NM_004738.5(VAPB):c.315+35C>T rs2234487 0.43269
NM_021980.4(OPTN):c.-161T>C rs71492279 0.36888
NM_014845.6(FIG4):c.*120C>T rs1127775 0.35612
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_003900.5(SQSTM1):c.755-23G>A rs2241349 0.32312
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_004960.3(FUS):c.*770G>C rs4889537 0.24493
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_014043.4(CHMP2B):c.*1589G>A rs1060241 0.22762
NM_004738.5(VAPB):c.*5298C>T rs6015275 0.22495
NM_001008212.2(OPTN):c.369+39T>G rs79529484 0.22121
NM_018325.5(C9orf72):c.*1344C>T rs13691 0.21385
NM_018325.5(C9orf72):c.*1406T>C rs9103 0.20796
NM_018325.5(C9orf72):c.870C>T (p.Ser290=) rs10122902 0.20696
NM_001008212.2(OPTN):c.166+66A>G rs10906303 0.20691
NM_018325.5(C9orf72):c.-27G>A rs10757668 0.20162
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_007126.5(VCP):c.*153G>T rs1053318 0.19091
NM_001008212.2(OPTN):c.-215G>A rs11548142 0.18691
NM_018325.5(C9orf72):c.*921C>A rs3739526 0.18576
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_007126.5(VCP):c.129+47G>A rs10972300 0.17835
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro) rs1800866 0.17661
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_004738.5(VAPB):c.*4271A>G rs4549163 0.15908
NM_004738.5(VAPB):c.*1282A>G rs1802459 0.15337
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_007375.4(TARDBP):c.-13+95C>T rs11121681 0.13481
NM_007375.3(TARDBP):c.-122G>A rs11121679 0.13475
NM_001097577.3(ANG):c.330T>G (p.Gly110=) rs11701 0.13321
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734 0.12411
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_004738.5(VAPB):c.*937G>C rs1059794 0.11399
NM_001145.4(ANG):c.-332C>A rs28589501 0.10899
NM_004738.5(VAPB):c.*4520T>C rs763514 0.10837
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser) rs17769294 0.09705
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_004738.5(VAPB):c.*1265G>C rs7400 0.09272
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_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) rs3219161 0.08298
NM_004738.5(VAPB):c.*2819A>G rs74568509 0.08036
NM_020919.4(ALS2):c.*1004G>A rs11300 0.07577
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) rs59371099 0.06827
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_004738.5(VAPB):c.*4446G>A rs79623348 0.06497
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_004960.3(FUS):c.*1803C>T rs16956408 0.06040
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_004738.5(VAPB):c.*4868C>T rs74748993 0.05916
NM_004738.5(VAPB):c.*4052C>T rs76295834 0.05914
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_020919.4(ALS2):c.*893C>T rs3219174 0.05509
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_018834.6(MATR3):c.*1259G>C rs62381613 0.04668
NM_018325.5(C9orf72):c.*248T>C rs73440933 0.04662
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_005022.4(PFN1):c.334C>T (p.Leu112=) rs13204 0.04611
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=) rs13429423 0.04117
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_000454.4(SOD1):c.-109A>G rs7277748 0.03982
NM_018834.6(MATR3):c.*177A>G rs13698 0.03913
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met) rs13420401 0.03855
NM_020919.4(ALS2):c.-95G>C rs77327610 0.03775
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_000454.5(SOD1):c.73-108T>A rs16988404 0.03480
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_018834.6(MATR3):c.*708T>C rs14109 0.03387
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
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_004960.3(FUS):c.*491T>G rs73530293 0.03268
NM_004960.3(FUS):c.*2486G>A rs73530298 0.03248
NM_004960.3(FUS):c.*2794G>C rs17839571 0.03244
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03152
NM_013254.4(TBK1):c.66T>C (p.Asn22=) rs41292019 0.03018
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_018834.6(MATR3):c.*1076T>C rs2015602 0.02638
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_004960.3(FUS):c.*910C>T rs118018900 0.02606
NM_005235.3(ERBB4):c.2202+15A>G rs77836647 0.02566
NM_001145.4(ANG):c.-530T>C rs117053048 0.02510
NM_001145.4(ANG):c.-579G>C rs117466368 0.02509
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_001145.4(ANG):c.-401G>T rs45591635 0.02505
NM_002937.5(RNASE4):c.-40T>C rs117978329 0.02505
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_007126.5(VCP):c.*596C>T rs55745923 0.02117
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_001256054.3(C9orf72):c.-164T>C rs41272893 0.02049
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_004960.3(FUS):c.*2393T>A rs541197027 0.01834
NM_001145.4(ANG):c.-534C>T rs117787610 0.01793
NM_018834.6(MATR3):c.*1278T>C rs116341961 0.01780
NM_004960.3(FUS):c.*989C>T rs114772555 0.01702
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=) rs11548642 0.01636
NM_004738.5(VAPB):c.*4952C>T rs116665485 0.01608
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_213720.3(CHCHD10):c.42-7C>G rs567239313 0.01558
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_004960.3(FUS):c.*1420C>T rs73530295 0.01500
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.*1224G>C rs10491906 0.01458
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_018834.6(MATR3):c.*1535A>G rs111689401 0.01322
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_001008212.2(OPTN):c.*269C>T rs111484304 0.01294
NM_004082.5(DCTN1):c.1288-3C>T rs72466490 0.01285
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_001097577.3(ANG):c.363A>T (p.Thr121=) rs2228653 0.01278
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_004960.4(FUS):c.-39A>G rs67676356 0.01242
NM_014043.4(CHMP2B):c.-102C>T rs36098294 0.01237
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_001008212.2(OPTN):c.-255C>G rs2580915 0.01192
NM_020919.4(ALS2):c.*447G>A rs3219173 0.01169
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_004738.5(VAPB):c.*6182C>T rs76708676 0.01132
NM_018834.6(MATR3):c.*1425C>G rs145516036 0.01098
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_014043.4(CHMP2B):c.*231T>C rs17189270 0.01035
NM_014043.4(CHMP2B):c.-151C>A rs77328592 0.01035
NM_020919.4(ALS2):c.*105A>C rs141509107 0.00995
NM_007126.5(VCP):c.*906A>G rs76360394 0.00965
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00943
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_004960.3(FUS):c.*626G>A rs115626460 0.00863
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_020919.4(ALS2):c.*843G>A rs41309062 0.00827
NM_013254.4(TBK1):c.2139-11G>A rs41292027 0.00800
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) rs111527940 0.00755
NM_000454.5(SOD1):c.170-20T>C rs17885833 0.00737
NM_004738.5(VAPB):c.*6088C>T rs147304840 0.00734
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_004738.5(VAPB):c.*753C>G rs6070466 0.00707
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014043.4(CHMP2B):c.*1588C>T rs11426 0.00691
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_018834.6(MATR3):c.*1482A>T rs79616595 0.00669
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_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_018834.6(MATR3):c.*1087G>C rs116660718 0.00535
NM_004738.5(VAPB):c.*1641G>A rs116584680 0.00529
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274 0.00525
NM_004738.5(VAPB):c.*6619G>A rs79091887 0.00520
NM_018325.5(C9orf72):c.*1469T>A rs141012074 0.00519
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_000454.5(SOD1):c.-48T>A rs142752986 0.00516
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_004960.3(FUS):c.*1148A>T rs140326191 0.00506
NM_004960.3(FUS):c.*2443A>G rs189787862 0.00503
NM_004738.5(VAPB):c.*995T>G rs76895132 0.00501
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
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_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_018834.6(MATR3):c.*275C>T rs187985845 0.00426
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser) rs200831077 0.00420
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_018834.6(MATR3):c.*496C>T rs140707719 0.00411
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00410
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_018834.6(MATR3):c.*747G>C rs181792838 0.00392
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_004960.3(FUS):c.*214C>T rs140875749 0.00361
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=) rs141063383 0.00352
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_013254.4(TBK1):c.1761-11C>T rs145696668 0.00344
NM_018325.5(C9orf72):c.528T>C (p.Leu176=) rs34608611 0.00334
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_018325.5(C9orf72):c.*837G>A rs80172172 0.00329
NM_020919.4(ALS2):c.*1202C>T rs41309068 0.00327
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_018834.6(MATR3):c.*313A>G rs180806333 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_003900.5(SQSTM1):c.755-90dup rs145727617 0.00280
NM_013254.4(TBK1):c.9C>T (p.Ser3=) rs115692983 0.00280
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) rs76603692 0.00272
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_000454.5(SOD1):c.*339C>T rs17880487 0.00263
NM_004960.3(FUS):c.*2988C>T rs73530301 0.00254
NM_007126.5(VCP):c.-267C>T rs184152880 0.00252
NM_000454.5(SOD1):c.*2C>T rs1804447 0.00251
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_013254.4(TBK1):c.1522C>A (p.Leu508Ile) rs144424516 0.00245
NM_015046.7(SETX):c.*168C>T rs115351494 0.00245
NM_014043.4(CHMP2B):c.*1255G>T rs144167614 0.00241
NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val) rs56317523 0.00230
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_004738.5(VAPB):c.*4559A>G rs73296848 0.00228
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_018834.6(MATR3):c.*1394G>A rs572983701 0.00217
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_018325.5(C9orf72):c.*1058G>T rs41272887 0.00203
NM_004960.4(FUS):c.273C>T (p.Tyr91=) rs73530286 0.00196
NM_004960.3(FUS):c.*687G>A rs549602004 0.00193
NM_004738.5(VAPB):c.*1773G>A rs75999456 0.00188
NM_004738.5(VAPB):c.*2671A>G rs115191022 0.00183
NM_004738.5(VAPB):c.*3968C>T rs149967447 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_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_015046.7(SETX):c.*2506T>C rs73545065 0.00164
NM_015046.7(SETX):c.*905A>G rs58327306 0.00164
NM_004738.5(VAPB):c.*2320T>A rs181028077 0.00163
NM_004738.5(VAPB):c.*4072C>T rs190652187 0.00163
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
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_018325.5(C9orf72):c.288A>G (p.Ser96=) rs147752518 0.00146
NM_015046.7(SETX):c.5548+19A>G rs201294921 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_004738.5(VAPB):c.*1413C>G rs190582293 0.00139
NM_014043.4(CHMP2B):c.35-7C>T rs200912994 0.00133
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=) rs140986485 0.00130
NM_015046.7(SETX):c.6936-11A>G rs146193654 0.00129
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_001145.4(ANG):c.-383C>G rs113950902 0.00124
NM_014043.4(CHMP2B):c.*1610C>T rs191312397 0.00124
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556 0.00120
NM_001008212.2(OPTN):c.876G>A (p.Pro292=) rs151065414 0.00118
NM_018325.5(C9orf72):c.*914A>G rs561651779 0.00118
NM_004738.5(VAPB):c.316-17A>C rs201335617 0.00115
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_007375.4(TARDBP):c.24C>T (p.Thr8=) rs72870030 0.00112
NM_199189.3(MATR3):c.-247C>T rs141402332 0.00112
NM_013254.4(TBK1):c.135C>T (p.Phe45=) rs11538420 0.00108
NM_018834.6(MATR3):c.*1767C>T rs181125183 0.00104
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_004738.5(VAPB):c.*75G>A rs138521885 0.00098
NM_001008212.2(OPTN):c.779+20G>A rs79733653 0.00095
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_004738.5(VAPB):c.*3822C>G rs150825395 0.00093
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924 0.00093
NM_018325.5(C9orf72):c.*174C>T rs146530591 0.00092
NM_013254.4(TBK1):c.1227C>T (p.Asp409=) rs150609728 0.00088
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=) rs142030960 0.00086
NM_007375.4(TARDBP):c.544-17C>T rs117557248 0.00085
NM_018325.5(C9orf72):c.*1024A>G rs563194682 0.00084
NM_005866.4(SIGMAR1):c.151+15G>A rs368822102 0.00083
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_004960.4(FUS):c.-47G>A rs72550864 0.00081
NM_014043.4(CHMP2B):c.*864G>A rs181777395 0.00079
NM_001145.4(ANG):c.-423C>T rs149147430 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_004738.5(VAPB):c.*2224C>T rs189009703 0.00073
NM_007375.4(TARDBP):c.*343G>A rs555353123 0.00073
NM_018834.6(MATR3):c.*769G>A rs561705958 0.00070
NM_004738.4(VAPB):c.-292G>C rs2234484 0.00067
NM_004738.5(VAPB):c.*2766C>T rs6128346 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
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_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
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_014043.4(CHMP2B):c.*1408A>G rs183429826 0.00055
NM_003900.5(SQSTM1):c.969+20G>A rs199696608 0.00054
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_004738.5(VAPB):c.*3020A>G rs570716807 0.00053
NM_007375.4(TARDBP):c.*1081C>T rs184303021 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 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_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_014043.4(CHMP2B):c.*744C>A rs185167991 0.00048
NM_018834.6(MATR3):c.*2054T>A rs116278472 0.00047
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_018834.6(MATR3):c.*2200C>T rs770043950 0.00043
NM_004960.3(FUS):c.*3231T>C rs193018950 0.00041
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_004738.4(VAPB):c.-322G>C rs746837253 0.00039
NM_000454.4(SOD1):c.-83T>C rs377427683 0.00038
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NC_000009.12:g.34638237A>T rs148692127 0.00036
NM_004738.5(VAPB):c.*596C>T rs118055109 0.00036
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_018325.5(C9orf72):c.1149+9T>C rs139352974 0.00036
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp) rs532842754 0.00035
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 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_005235.3(ERBB4):c.308G>A (p.Arg103His) rs754487821 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_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_018834.6(MATR3):c.1183-5G>A rs369464069 0.00028
NM_004738.5(VAPB):c.*5005T>A rs146687585 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_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_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_007375.4(TARDBP):c.*2740G>A rs566658679 0.00024
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=) rs115088049 0.00023
NM_004738.5(VAPB):c.*2592G>A rs143902869 0.00023
NM_004738.5(VAPB):c.105G>A (p.Pro35=) rs141383583 0.00023
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_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
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_018325.5(C9orf72):c.462C>T (p.Val154=) rs188263738 0.00019
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr) rs148487997 0.00019
NM_013254.4(TBK1):c.916C>A (p.Leu306Ile) rs201970436 0.00018
NM_007126.5(VCP):c.2193C>T (p.Ile731=) rs186657793 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=) rs372482596 0.00016
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 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_004960.4(FUS):c.132C>T (p.Ser44=) rs72550883 0.00015
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_004738.5(VAPB):c.*1335C>T rs187441988 0.00014
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689 0.00014
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_013254.4(TBK1):c.108T>C (p.Ala36=) rs202056661 0.00012
NM_014043.4(CHMP2B):c.*836T>C rs189927047 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_018325.5(C9orf72):c.682T>C (p.Leu228=) rs147034723 0.00012
NM_000454.5(SOD1):c.*317T>C rs191345676 0.00011
NM_018834.6(MATR3):c.*2174C>T rs775200100 0.00011
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.-163G>T rs192883799 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_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_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_000750.5(CHRNB4):c.498C>G (p.Asn166Lys) rs148540431 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_003900.5(SQSTM1):c.378G>A (p.Val126=) rs774780830 0.00006
NM_004738.5(VAPB):c.*4923A>G rs776329339 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_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 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.1880T>C (p.Met627Thr) rs199707503 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_018834.6(MATR3):c.*406A>G rs185734839 0.00006
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 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_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_004738.5(VAPB):c.*884A>G rs3746398 0.00004
NM_004960.3(FUS):c.*1883T>C rs549012470 0.00004
NM_004960.3(FUS):c.*2884A>T rs554281103 0.00004
NM_007126.5(VCP):c.*438A>G rs137953487 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_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542 0.00004
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_007375.4(TARDBP):c.*73G>C rs185638796 0.00003
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_014043.4(CHMP2B):c.*1071A>G rs544589377 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.5781+9T>C rs772671321 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_199189.2(MATR3):c.-643A>G rs765907489 0.00003
NM_004082.5(DCTN1):c.1702-7C>T rs554887316 0.00002
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_004960.4(FUS):c.*10C>T rs529269129 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_018834.6(MATR3):c.69G>A (p.Ala23=) rs750693851 0.00002
NM_025137.4(SPG11):c.732C>T (p.Asp244=) rs745572647 0.00002
NM_001008212.2(OPTN):c.-274C>A rs552494483 0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 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_004082.5(DCTN1):c.94C>T (p.Arg32Cys) rs751177222 0.00001
NM_004738.5(VAPB):c.*4240G>C rs554043472 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.*2232T>C rs545456048 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_018325.5(C9orf72):c.*651G>T rs548883941 0.00001
NM_018834.6(MATR3):c.*2194T>A rs760576225 0.00001
NM_018834.6(MATR3):c.*305A>C rs563125595 0.00001
NM_018834.6(MATR3):c.*97C>G rs769044248 0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064 0.00001
NC_000009.12:g.34637993_34637994delinsAA rs371780375
NM_000454.5(SOD1):c.169+52_169+58del rs541000032
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_001097577.3(ANG):c.62C>A (p.Pro21Gln) rs773237991
NM_001145.4(ANG):c.-237A>C rs45525731
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
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.2794C>T (p.Arg932Cys) rs373818927
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.*5612C>G rs140602757
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_004960.3(FUS):c.*3230A>G rs550798081
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_005235.3(ERBB4):c.1947-28dup rs57466272
NM_005235.3(ERBB4):c.884-7del rs67894136
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.714+69dup rs143130606
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_014043.4(CHMP2B):c.*1376G>C rs191203869
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_015046.7(SETX):c.*431_*432del rs112251805
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.7200-10dup rs531485265
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_018325.5(C9orf72):c.600+27A>G rs2589050
NM_018834.6(MATR3):c.*640A>G rs145836548
NM_018834.6(MATR3):c.-43T>A rs12153162
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_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1]) rs59890097
NM_021980.4(OPTN):c.-227G>T rs3814657
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
NM_213720.3(CHCHD10):c.409+27G>C rs140182

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