ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2373
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HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75204
NM_001372574.1(ATXN2):c.3043-12G>A rs2073950 0.19844
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=) rs76696028 0.12201
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_018834.6(MATR3):c.-56G>A rs59033177 0.01187
NM_020919.4(ALS2):c.*379T>A rs144613080 0.00995
NM_020919.4(ALS2):c.*163A>G rs3219172 0.00975
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_020919.4(ALS2):c.*942A>G rs41309066 0.00903
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_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951 0.00755
NM_001008212.2(OPTN):c.*562T>G rs148646641 0.00706
NM_025137.4(SPG11):c.*243A>G rs116069609 0.00669
NM_025137.4(SPG11):c.2621-15T>G rs188590034 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_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_007126.5(VCP):c.*1001C>T rs192556285 0.00482
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_015046.7(SETX):c.7287+207C>T rs45490698 0.00451
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
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_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_004960.3(FUS):c.*1992A>C rs146490489 0.00325
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_004738.5(VAPB):c.*3118C>T rs56310716 0.00306
NM_004738.5(VAPB):c.*467G>A rs141496875 0.00301
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_020919.4(ALS2):c.2842-20C>T rs189282198 0.00288
NM_004960.3(FUS):c.*1998T>C rs182437252 0.00272
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_004738.5(VAPB):c.*375C>G rs540854828 0.00247
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_018325.5(C9orf72):c.*1214T>C rs191690136 0.00205
NM_000940.3(PON3):c.94C>T (p.Arg32Ter) rs147006695 0.00195
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363 0.00184
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_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_004738.5(VAPB):c.*3566A>T rs114038495 0.00142
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_004738.5(VAPB):c.*5790G>A rs192046748 0.00126
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_004738.5(VAPB):c.*3274C>T rs553170533 0.00122
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_004738.5(VAPB):c.*6578T>G rs115932469 0.00121
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) rs370872556 0.00115
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly) rs143145331 0.00112
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His) rs199577696 0.00105
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00094
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_007126.5(VCP):c.*12C>T rs62544156 0.00088
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_004738.5(VAPB):c.*3725T>C rs574293455 0.00083
NM_004738.5(VAPB):c.*726A>G rs560832981 0.00083
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) rs145958900 0.00070
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_004738.5(VAPB):c.-137C>T rs542349554 0.00062
NM_004738.5(VAPB):c.*1347A>G rs192710529 0.00059
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024 0.00059
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_007375.3(TARDBP):c.-110C>T rs577981181 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_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_000454.5(SOD1):c.357+9T>C rs17886692 0.00051
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala) rs184147813 0.00051
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly) rs139894940 0.00048
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) rs11548640 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_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys) rs149276791 0.00041
NM_004082.5(DCTN1):c.2334A>C (p.Thr778=) rs144256653 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro) rs150918808 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_001008212.2(OPTN):c.606G>A (p.Thr202=) rs143437860 0.00038
NM_004082.5(DCTN1):c.3610-14C>T rs757854575 0.00038
NM_015046.7(SETX):c.638C>T (p.Ser213Phe) rs1254442456 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=) rs143977783 0.00036
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys) rs139372286 0.00034
NM_003900.5(SQSTM1):c.783C>T (p.His261=) rs145001811 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_002937.5(RNASE4):c.-18+11A>C rs184963428 0.00033
NM_013254.4(TBK1):c.964C>T (p.His322Tyr) rs145905497 0.00033
NM_004960.4(FUS):c.47C>T (p.Ala16Val) rs139980267 0.00032
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.597G>A (p.Pro199=) rs143607419 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_018834.6(MATR3):c.2494-6T>A rs376395410 0.00029
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) rs564997204 0.00029
NM_004082.5(DCTN1):c.558G>A (p.Pro186=) rs201078804 0.00028
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) rs145649831 0.00028
NM_000454.5(SOD1):c.195T>C (p.Phe65=) rs147620646 0.00026
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val) rs143746604 0.00026
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_025137.4(SPG11):c.2445-20A>T rs545137154 0.00026
NM_004738.5(VAPB):c.*3805G>C rs561048421 0.00025
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
NM_015046.7(SETX):c.6208+17G>A rs182144319 0.00025
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000 0.00025
NM_007126.5(VCP):c.924C>T (p.Ala308=) rs199504528 0.00024
NM_013254.4(TBK1):c.812G>A (p.Arg271Gln) rs56196591 0.00024
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_025137.4(SPG11):c.1457-20A>C rs376343587 0.00024
NM_003900.5(SQSTM1):c.674-17C>T rs372845160 0.00023
NM_004738.5(VAPB):c.*3764C>T rs376626781 0.00023
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu) rs201795943 0.00021
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 0.00021
NM_013254.4(TBK1):c.1176A>G (p.Leu392=) rs141806113 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015046.7(SETX):c.1392A>G (p.Ser464=) rs144164119 0.00021
NM_015046.7(SETX):c.900T>C (p.Leu300=) rs147938250 0.00021
NM_004082.5(DCTN1):c.2605C>T (p.Leu869=) rs148511573 0.00020
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_004738.5(VAPB):c.573+18G>A rs201884956 0.00020
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_015046.7(SETX):c.1464C>T (p.Ala488=) rs139275155 0.00019
NM_015046.7(SETX):c.3297T>C (p.Asp1099=) rs777404209 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00019
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=) rs150470670 0.00018
NM_004082.5(DCTN1):c.3029+19G>A rs201665169 0.00018
NM_007126.5(VCP):c.954C>T (p.Gly318=) rs377316335 0.00018
NM_013254.4(TBK1):c.1865A>G (p.Lys622Arg) rs199605037 0.00018
NM_015046.7(SETX):c.-123C>A rs184570956 0.00017
NM_004082.5(DCTN1):c.570G>A (p.Pro190=) rs528908728 0.00016
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004960.3(FUS):c.*1286C>G rs547623704 0.00016
NM_007126.5(VCP):c.210C>T (p.Ile70=) rs151222857 0.00016
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_213720.3(CHCHD10):c.262-5C>T rs750056280 0.00016
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys) rs200114679 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015046.7(SETX):c.7288-19C>T rs368143983 0.00015
NM_004082.5(DCTN1):c.3003C>T (p.Thr1001=) rs376031920 0.00014
NM_004960.4(FUS):c.*48G>A rs376510148 0.00014
NM_004960.4(FUS):c.1067-6C>T rs77813265 0.00014
NM_004960.4(FUS):c.687T>C (p.Gly229=) rs781445592 0.00014
NM_013254.4(TBK1):c.1659A>C (p.Gln553His) rs772256797 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_015046.7(SETX):c.390C>T (p.Asn130=) rs138363625 0.00014
NM_018834.6(MATR3):c.1377G>A (p.Ala459=) rs147356202 0.00014
NM_004082.5(DCTN1):c.2990G>A (p.Arg997Gln) rs200580530 0.00013
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004738.5(VAPB):c.*5851C>A rs772661395 0.00013
NM_005866.4(SIGMAR1):c.294C>T (p.Ala98=) rs566645946 0.00013
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_015046.7(SETX):c.3555G>A (p.Gln1185=) rs762171056 0.00013
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=) rs556027390 0.00013
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_004082.5(DCTN1):c.3501C>T (p.His1167=) rs569997015 0.00012
NM_004960.4(FUS):c.543A>G (p.Gln181=) rs865823605 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.7990C>T (p.Leu2664=) rs200826214 0.00012
NM_213720.3(CHCHD10):c.378C>T (p.Ser126=) rs199579266 0.00012
NM_001008212.2(OPTN):c.779+10A>G rs200899194 0.00011
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=) rs374985304 0.00011
NM_004082.5(DCTN1):c.2967G>A (p.Glu989=) rs372554051 0.00011
NM_004738.5(VAPB):c.174C>T (p.Ser58=) rs139149560 0.00011
NM_013254.4(TBK1):c.378A>G (p.Leu126=) rs144462850 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513 0.00011
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp) rs775112319 0.00011
NM_015046.7(SETX):c.5941C>T (p.Leu1981=) rs373324070 0.00011
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919 0.00011
NM_018325.5(C9orf72):c.477A>G (p.Leu159=) rs374411112 0.00011
NM_213720.3(CHCHD10):c.410-12C>T rs750841860 0.00011
NM_213720.3(CHCHD10):c.410-17T>G rs754306778 0.00011
NM_213720.3(CHCHD10):c.410-19G>C rs754492535 0.00011
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=) rs201591177 0.00010
NM_003900.5(SQSTM1):c.755-8G>A rs369581639 0.00010
NM_004082.5(DCTN1):c.3212-10G>A rs201516838 0.00010
NM_004082.5(DCTN1):c.3543G>A (p.Pro1181=) rs745853966 0.00010
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) rs368273709 0.00010
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_013254.4(TBK1):c.1073G>A (p.Arg358His) rs374208742 0.00010
NM_013254.4(TBK1):c.175T>C (p.Leu59=) rs545011546 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015046.7(SETX):c.7926G>A (p.Glu2642=) rs147986724 0.00010
NM_018834.6(MATR3):c.265A>G (p.Ile89Val) rs528548235 0.00010
NM_000454.5(SOD1):c.-26A>G rs571199057 0.00009
NM_001008212.2(OPTN):c.883-17G>T rs561692004 0.00009
NM_003900.5(SQSTM1):c.171G>C (p.Ala57=) rs773605598 0.00009
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=) rs376214713 0.00009
NM_004082.5(DCTN1):c.1266C>T (p.Thr422=) rs368742342 0.00009
NM_004082.5(DCTN1):c.1447C>T (p.Leu483=) rs145369076 0.00009
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352 0.00009
NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) rs780851496 0.00009
NM_004960.4(FUS):c.222A>G (p.Gly74=) rs757454595 0.00009
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626 0.00009
NM_007126.5(VCP):c.340A>G (p.Ile114Val) rs549915384 0.00009
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_007375.4(TARDBP):c.975C>T (p.Ala325=) rs777072801 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_015046.7(SETX):c.1065C>T (p.Ile355=) rs376107422 0.00009
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_015046.7(SETX):c.7770C>T (p.Pro2590=) rs532828022 0.00009
NM_015046.7(SETX):c.78G>A (p.Pro26=) rs139972421 0.00009
NM_018834.6(MATR3):c.1116A>G (p.Pro372=) rs375938101 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_213720.3(CHCHD10):c.42-9C>A rs1392906115 0.00009
NM_004082.5(DCTN1):c.1422G>A (p.Leu474=) rs149184538 0.00008
NM_004082.5(DCTN1):c.3197-8G>A rs371393698 0.00008
NM_004082.5(DCTN1):c.358+18A>T rs771340635 0.00008
NM_004960.4(FUS):c.339C>T (p.Tyr113=) rs770345118 0.00008
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_013254.4(TBK1):c.87+8C>T rs148982416 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.2865T>C (p.Asp955=) rs368932478 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_018834.6(MATR3):c.1435-14_1435-11del rs754942776 0.00008
NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=) rs202237523 0.00007
NM_004082.5(DCTN1):c.394-16C>G rs371506967 0.00007
NM_004738.5(VAPB):c.496G>A (p.Val166Ile) rs538630783 0.00007
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_013254.4(TBK1):c.1190-9A>G rs375547018 0.00007
NM_013254.4(TBK1):c.2175C>T (p.Asn725=) rs369222946 0.00007
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln) rs188471297 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.4353A>G (p.Val1451=) rs771367273 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_213720.3(CHCHD10):c.171G>A (p.Val57=) rs780298646 0.00007
NM_213720.3(CHCHD10):c.410-14C>T rs375779737 0.00007
NM_000454.5(SOD1):c.73-4A>G rs374242306 0.00006
NM_001008212.2(OPTN):c.1401+21C>G rs553828705 0.00006
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu) rs375495050 0.00006
NM_003900.5(SQSTM1):c.205+7G>C rs912066047 0.00006
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=) rs145688323 0.00006
NM_004082.5(DCTN1):c.1393-6T>C rs72466491 0.00006
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) rs199751168 0.00006
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val) rs758387062 0.00006
NM_004082.5(DCTN1):c.3132G>C (p.Thr1044=) rs375157202 0.00006
NM_004082.5(DCTN1):c.336T>G (p.Ser112=) rs371005095 0.00006
NM_004082.5(DCTN1):c.3699+12C>T rs372930172 0.00006
NM_004082.5(DCTN1):c.394-10C>A rs541163314 0.00006
NM_004082.5(DCTN1):c.420G>A (p.Pro140=) rs375040197 0.00006
NM_004738.5(VAPB):c.*4265G>A rs780267648 0.00006
NM_004738.5(VAPB):c.651A>G (p.Glu217=) rs767437818 0.00006
NM_004960.4(FUS):c.1461C>T (p.Arg487=) rs755870176 0.00006
NM_007126.5(VCP):c.1017A>T (p.Ala339=) rs565534943 0.00006
NM_007126.5(VCP):c.129+16A>T rs369006103 0.00006
NM_007126.5(VCP):c.2316-4A>G rs755625059 0.00006
NM_007126.5(VCP):c.552C>T (p.Cys184=) rs769455914 0.00006
NM_007126.5(VCP):c.732C>T (p.Tyr244=) rs201610567 0.00006
NM_007375.4(TARDBP):c.1101C>T (p.Phe367=) rs377531374 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_013254.4(TBK1):c.1797G>A (p.Thr599=) rs758803587 0.00006
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=) rs376846232 0.00006
NM_014043.4(CHMP2B):c.424+10A>G rs375906390 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_015046.7(SETX):c.1497G>A (p.Ala499=) rs142936332 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe) rs370551247 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.2994C>T (p.Phe998=) rs534579992 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg) rs202204341 0.00006
NM_015046.7(SETX):c.5274+8T>C rs369501754 0.00006
NM_015046.7(SETX):c.5616C>T (p.Asn1872=) rs201472554 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.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_018834.6(MATR3):c.1129+9A>G rs372039740 0.00006
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys) rs3759875 0.00006
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00005
NM_000454.5(SOD1):c.73-8T>C rs200764110 0.00005
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu) rs537142935 0.00005
NM_003900.5(SQSTM1):c.673+10G>C rs753023157 0.00005
NM_004082.5(DCTN1):c.159C>T (p.Ala53=) rs759530214 0.00005
NM_004082.5(DCTN1):c.2318G>T (p.Gly773Val) rs754657052 0.00005
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=) rs770872113 0.00005
NM_004082.5(DCTN1):c.2628+18G>A rs770747593 0.00005
NM_004082.5(DCTN1):c.393+7G>A rs778904039 0.00005
NM_004082.5(DCTN1):c.450C>T (p.Pro150=) rs762745227 0.00005
NM_004960.4(FUS):c.1176G>A (p.Met392Ile) rs751937417 0.00005
NM_004960.4(FUS):c.1248C>T (p.Gly416=) rs368780804 0.00005
NM_004960.4(FUS):c.799+13A>T rs374716753 0.00005
NM_007126.5(VCP):c.1611C>G (p.Ala537=) rs750247487 0.00005
NM_007375.4(TARDBP):c.714+17C>T rs374054081 0.00005
NM_007375.4(TARDBP):c.87C>T (p.Ser29=) rs201693535 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574 0.00005
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) rs375241191 0.00005
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180 0.00005
NM_015046.7(SETX):c.7164G>C (p.Thr2388=) rs368602563 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015046.7(SETX):c.807G>A (p.Ser269=) rs147677608 0.00005
NM_018834.6(MATR3):c.1866C>T (p.Thr622=) rs539542619 0.00005
NM_213720.3(CHCHD10):c.132C>T (p.Leu44=) rs776304054 0.00005
NM_213720.3(CHCHD10):c.273C>T (p.Pro91=) rs773772416 0.00005
NM_000454.5(SOD1):c.180T>C (p.Ser60=) rs373888553 0.00004
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met) rs201841018 0.00004
NM_001008212.2(OPTN):c.597T>C (p.Pro199=) rs373699827 0.00004
NM_001008212.2(OPTN):c.883-9G>A rs372118360 0.00004
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=) rs768110162 0.00004
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=) rs145037913 0.00004
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=) rs370203737 0.00004
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His) rs535606152 0.00004
NM_003900.5(SQSTM1):c.570C>T (p.His190=) rs758110159 0.00004
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val) rs202235745 0.00004
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) rs140341924 0.00004
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=) rs200695664 0.00004
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met) rs780858230 0.00004
NM_004082.5(DCTN1):c.2184+18G>T rs376497087 0.00004
NM_004082.5(DCTN1):c.2467-17T>A rs371136234 0.00004
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) rs371241720 0.00004
NM_004082.5(DCTN1):c.3075G>A (p.Gln1025=) rs367898436 0.00004
NM_004082.5(DCTN1):c.3212-6C>A rs750104562 0.00004
NM_004082.5(DCTN1):c.3597C>T (p.Val1199=) rs767954436 0.00004
NM_004082.5(DCTN1):c.3654A>G (p.Thr1218=) rs774374037 0.00004
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln) rs553822174 0.00004
NM_004082.5(DCTN1):c.45C>T (p.Gly15=) rs72466483 0.00004
NM_004082.5(DCTN1):c.654G>A (p.Glu218=) rs758731839 0.00004
NM_005866.4(SIGMAR1):c.456A>G (p.Val152=) rs144813067 0.00004
NM_007126.5(VCP):c.*15C>T rs762559031 0.00004
NM_007126.5(VCP):c.1359+15C>T rs765387767 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_007126.5(VCP):c.446-16C>T rs747667635 0.00004
NM_007126.5(VCP):c.446-17A>G rs543629555 0.00004
NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=) rs147795017 0.00004
NM_007375.4(TARDBP):c.330T>G (p.Gly110=) rs199804130 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_013254.4(TBK1):c.1062C>T (p.Tyr354=) rs141340205 0.00004
NM_013254.4(TBK1):c.2170C>T (p.Arg724Cys) rs185524052 0.00004
NM_013254.4(TBK1):c.723G>A (p.Lys241=) rs371799560 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_015046.7(SETX):c.1140T>G (p.Pro380=) rs140553290 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly) rs764538703 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala) rs956812554 0.00004
NM_015046.7(SETX):c.3810G>A (p.Pro1270=) rs753022992 0.00004
NM_015046.7(SETX):c.399T>C (p.Cys133=) rs779515782 0.00004
NM_015046.7(SETX):c.4323G>A (p.Gln1441=) rs180992608 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.5814A>G (p.Gln1938=) rs143868969 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6546+10C>T rs571194790 0.00004
NM_015046.7(SETX):c.719-4A>G rs775443601 0.00004
NM_015046.7(SETX):c.7200-15T>C rs754019832 0.00004
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) rs773364996 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.7809C>T (p.Pro2603=) rs766063614 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_018325.5(C9orf72):c.703G>A (p.Val235Ile) rs781214485 0.00004
NM_018834.6(MATR3):c.1368C>T (p.Thr456=) rs200027384 0.00004
NM_018834.6(MATR3):c.1778+3A>G rs568895329 0.00004
NM_018834.6(MATR3):c.1896T>C (p.Gly632=) rs202208841 0.00004
NM_018834.6(MATR3):c.2454T>C (p.Asn818=) rs146550337 0.00004
NM_025137.4(SPG11):c.4907-13C>G rs778489486 0.00004
NM_213720.3(CHCHD10):c.262-4C>T rs1021130344 0.00004
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243 0.00003
NM_001008212.2(OPTN):c.1533-10G>A rs202006990 0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.1713C>T (p.His571=) rs187326591 0.00003
NM_001008212.2(OPTN):c.219G>A (p.Ser73=) rs1430621754 0.00003
NM_001008212.2(OPTN):c.448C>T (p.Leu150=) rs768270236 0.00003
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=) rs750140541 0.00003
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=) rs372518286 0.00003
NM_003900.5(SQSTM1):c.755-10C>T rs763522925 0.00003
NM_004082.5(DCTN1):c.1482G>A (p.Ala494=) rs372546194 0.00003
NM_004082.5(DCTN1):c.2253+20G>A rs1446016270 0.00003
NM_004082.5(DCTN1):c.2397G>A (p.Lys799=) rs145150561 0.00003
NM_004082.5(DCTN1):c.2761-13G>A rs531275207 0.00003
NM_004082.5(DCTN1):c.2823G>A (p.Leu941=) rs550195526 0.00003
NM_004082.5(DCTN1):c.3444G>A (p.Leu1148=) rs139241420 0.00003
NM_004082.5(DCTN1):c.3529+11G>C rs772782095 0.00003
NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn) rs184429549 0.00003
NM_004082.5(DCTN1):c.645+10G>A rs776017204 0.00003
NM_004738.5(VAPB):c.163A>C (p.Arg55=) rs150761013 0.00003
NM_004738.5(VAPB):c.574-14G>A rs754865953 0.00003
NM_004738.5(VAPB):c.618C>T (p.Ser206=) rs747208140 0.00003
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 0.00003
NM_004960.4(FUS):c.300T>C (p.Tyr100=) rs376424892 0.00003
NM_004960.4(FUS):c.335+19C>T rs773898038 0.00003
NM_005866.4(SIGMAR1):c.353-13G>A rs370067220 0.00003
NM_005866.4(SIGMAR1):c.446-19G>A rs781431829 0.00003
NM_007126.5(VCP):c.2166A>G (p.Val722=) rs781606619 0.00003
NM_007126.5(VCP):c.2412G>A (p.Leu804=) rs757712897 0.00003
NM_007126.5(VCP):c.384T>C (p.Gly128=) rs367703031 0.00003
NM_007126.5(VCP):c.446-11T>G rs746343398 0.00003
NM_007126.5(VCP):c.624C>T (p.Gly208=) rs781273474 0.00003
NM_007126.5(VCP):c.708+19G>C rs771589216 0.00003
NM_007375.4(TARDBP):c.239-11G>A rs200694980 0.00003
NM_007375.4(TARDBP):c.403-5T>C rs372872536 0.00003
NM_007375.4(TARDBP):c.900A>G (p.Gly300=) rs146402671 0.00003
NM_013254.4(TBK1):c.1207C>T (p.His403Tyr) rs749709445 0.00003
NM_013254.4(TBK1):c.1521+20C>T rs769754825 0.00003
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_013254.4(TBK1):c.996T>A (p.Ala332=) rs752407982 0.00003
NM_014043.4(CHMP2B):c.219G>A (p.Thr73=) rs754433917 0.00003
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=) rs778796624 0.00003
NM_015046.7(SETX):c.1099-7A>G rs764675117 0.00003
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342 0.00003
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu) rs1338284039 0.00003
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly) rs1400027699 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504 0.00003
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu) rs557074957 0.00003
NM_015046.7(SETX):c.389-16A>G rs200380642 0.00003
NM_015046.7(SETX):c.396A>G (p.Leu132=) rs375232867 0.00003
NM_015046.7(SETX):c.4338G>A (p.Val1446=) rs777058489 0.00003
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile) rs756770572 0.00003
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=) rs768582274 0.00003
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=) rs777886975 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_015046.7(SETX):c.6276T>C (p.Asp2092=) rs759395503 0.00003
NM_015046.7(SETX):c.6396+16G>A rs369168525 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6453C>T (p.Ile2151=) rs150599672 0.00003
NM_015046.7(SETX):c.6762C>T (p.Leu2254=) rs1225106822 0.00003
NM_015046.7(SETX):c.6843-5T>A rs943904959 0.00003
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp) rs1490101518 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_018834.6(MATR3):c.1435-8T>C rs1055412692 0.00003
NM_018834.6(MATR3):c.384T>C (p.Tyr128=) rs776371632 0.00003
NM_018834.6(MATR3):c.732T>C (p.His244=) rs765914696 0.00003
NM_018834.6(MATR3):c.975-15C>T rs370659966 0.00003
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.1428T>C (p.His476=) rs767738080 0.00002
NM_001008212.2(OPTN):c.480C>T (p.Ile160=) rs146593599 0.00002
NM_001008212.2(OPTN):c.513C>T (p.Ser171=) rs369760173 0.00002
NM_001008212.2(OPTN):c.718C>T (p.Leu240=) rs372486382 0.00002
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys) rs376158712 0.00002
NM_003900.5(SQSTM1):c.1165+15A>T rs764410841 0.00002
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=) rs745585269 0.00002
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=) rs757587948 0.00002
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=) rs746426826 0.00002
NM_003900.5(SQSTM1):c.532-19C>T rs368559255 0.00002
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys) rs567433223 0.00002
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=) rs747314158 0.00002
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val) rs762767720 0.00002
NM_003900.5(SQSTM1):c.969+19C>T rs566253151 0.00002
NM_004082.5(DCTN1):c.1288-10C>T rs72659375 0.00002
NM_004082.5(DCTN1):c.1398G>A (p.Ala466=) rs371253917 0.00002
NM_004082.5(DCTN1):c.1926G>A (p.Leu642=) rs758298791 0.00002
NM_004082.5(DCTN1):c.1947A>G (p.Gln649=) rs756173900 0.00002
NM_004082.5(DCTN1):c.21C>T (p.His7=) rs373040626 0.00002
NM_004082.5(DCTN1):c.2373C>T (p.Cys791=) rs759688608 0.00002
NM_004082.5(DCTN1):c.246T>C (p.Asp82=) rs1323483918 0.00002
NM_004082.5(DCTN1):c.2544T>C (p.Ala848=) rs1371265373 0.00002
NM_004082.5(DCTN1):c.2736T>C (p.Tyr912=) rs72659381 0.00002
NM_004082.5(DCTN1):c.280-19A>G rs747687955 0.00002
NM_004082.5(DCTN1):c.2814T>C (p.Ala938=) rs1475285679 0.00002
NM_004082.5(DCTN1):c.2925C>T (p.Leu975=) rs1185611985 0.00002
NM_004082.5(DCTN1):c.3030-11C>G rs770969863 0.00002
NM_004082.5(DCTN1):c.33+9C>T rs775298728 0.00002
NM_004082.5(DCTN1):c.359-4A>G rs754070367 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_004082.5(DCTN1):c.36G>A (p.Thr12=) rs1394864492 0.00002
NM_004082.5(DCTN1):c.3726A>G (p.Thr1242=) rs377745224 0.00002
NM_004738.5(VAPB):c.*2885G>C rs578172184 0.00002
NM_004738.5(VAPB):c.211+19G>A rs1225492890 0.00002
NM_004738.5(VAPB):c.397-16A>G rs767598860 0.00002
NM_004738.5(VAPB):c.465G>A (p.Lys155=) rs779988555 0.00002
NM_004960.4(FUS):c.1452C>T (p.Tyr484=) rs372721739 0.00002
NM_004960.4(FUS):c.648C>T (p.Arg216=) rs556586630 0.00002
NM_004960.4(FUS):c.90T>C (p.Ser30=) rs1485377976 0.00002
NM_005866.4(SIGMAR1):c.339C>T (p.Ser113=) rs754738945 0.00002
NM_005866.4(SIGMAR1):c.519C>T (p.Tyr173=) rs761290005 0.00002
NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=) rs762524711 0.00002
NM_007126.5(VCP):c.120C>T (p.Ser40=) rs775760970 0.00002
NM_007126.5(VCP):c.1494G>A (p.Glu498=) rs775006879 0.00002
NM_007126.5(VCP):c.1569G>A (p.Gly523=) rs748378458 0.00002
NM_007126.5(VCP):c.1863C>T (p.Gly621=) rs376510669 0.00002
NM_007126.5(VCP):c.2109C>T (p.Ile703=) rs543689812 0.00002
NM_007126.5(VCP):c.2161-4A>G rs1260699314 0.00002
NM_007126.5(VCP):c.2161-6C>T rs199513619 0.00002
NM_007126.5(VCP):c.2315+8G>C rs561343814 0.00002
NM_007126.5(VCP):c.330C>T (p.Tyr110=) rs1259531489 0.00002
NM_007126.5(VCP):c.345T>C (p.His115=) rs775348132 0.00002
NM_007126.5(VCP):c.446-5C>T rs541980846 0.00002
NM_007126.5(VCP):c.577-10C>T rs778331428 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_007375.4(TARDBP):c.1056T>C (p.Asn352=) rs561479675 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_013254.4(TBK1):c.1116A>G (p.Lys372=) rs775134475 0.00002
NM_013254.4(TBK1):c.1485A>G (p.Leu495=) rs771930992 0.00002
NM_013254.4(TBK1):c.1644-10C>T rs926345096 0.00002
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile) rs201549050 0.00002
NM_013444.4(UBQLN2):c.1455G>A (p.Leu485=) rs1214760842 0.00002
NM_015046.7(SETX):c.1099-12C>A rs752063617 0.00002
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830 0.00002
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) rs769620847 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.3450A>G (p.Glu1150=) rs771495291 0.00002
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305 0.00002
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala) rs759653127 0.00002
NM_015046.7(SETX):c.4683G>C (p.Gln1561His) rs772991134 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157 0.00002
NM_015046.7(SETX):c.5502C>T (p.His1834=) rs117410554 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5859A>G (p.Pro1953=) rs1423165535 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.855T>C (p.Pro285=) rs141736312 0.00002
NM_015046.7(SETX):c.867G>A (p.Ala289=) rs769799706 0.00002
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_015046.7(SETX):c.963C>T (p.Asn321=) rs750254836 0.00002
NM_018834.6(MATR3):c.1479G>A (p.Glu493=) rs751178653 0.00002
NM_018834.6(MATR3):c.1735-11T>C rs200942842 0.00002
NM_018834.6(MATR3):c.1917A>G (p.Thr639=) rs147164878 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.531T>C (p.Asp177=) rs367924183 0.00002
NM_018834.6(MATR3):c.657T>C (p.Tyr219=) rs775810771 0.00002
NM_018834.6(MATR3):c.670T>C (p.Leu224=) rs761066793 0.00002
NM_018834.6(MATR3):c.69G>A (p.Ala23=) rs750693851 0.00002
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=) rs1194478318 0.00002
NM_213720.3(CHCHD10):c.153G>T (p.Thr51=) rs772927642 0.00002
NM_213720.3(CHCHD10):c.262-7C>T rs533095236 0.00002
NM_000454.5(SOD1):c.159T>C (p.Asp53=) rs1276917683 0.00001
NM_000454.5(SOD1):c.216C>T (p.His72=) rs368042695 0.00001
NM_000454.5(SOD1):c.240-16G>A rs779802862 0.00001
NM_000454.5(SOD1):c.27G>A (p.Leu9=) rs772764888 0.00001
NM_000454.5(SOD1):c.72+13A>G rs754347852 0.00001
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=) rs181131178 0.00001
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=) rs760304751 0.00001
NM_001008212.2(OPTN):c.1612+9C>T rs763985749 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 0.00001
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
NM_001917.5(DAO):c.46G>A (p.Ala16Thr) rs778735604 0.00001
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=) rs982817243 0.00001
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=) rs771948860 0.00001
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=) rs778199086 0.00001
NM_003900.5(SQSTM1):c.1166-6C>T rs762322293 0.00001
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=) rs766437927 0.00001
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=) rs573881131 0.00001
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=) rs987821927 0.00001
NM_003900.5(SQSTM1):c.160C>T (p.Leu54=) rs1033321881 0.00001
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val) rs774355338 0.00001
NM_003900.5(SQSTM1):c.189C>T (p.Phe63=) rs1278023995 0.00001
NM_003900.5(SQSTM1):c.195G>A (p.Ala65=) rs986341874 0.00001
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=) rs780842511 0.00001
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=) rs148366738 0.00001
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=) rs150883783 0.00001
NM_003900.5(SQSTM1):c.302-5T>C rs199527061 0.00001
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=) rs770804860 0.00001
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=) rs1378204039 0.00001
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=) rs1476097073 0.00001
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=) rs768088721 0.00001
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=) rs1007964808 0.00001
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=) rs769497182 0.00001
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=) rs1387392776 0.00001
NM_003900.5(SQSTM1):c.531+15T>C rs1280173893 0.00001
NM_003900.5(SQSTM1):c.532-14A>G rs748661765 0.00001
NM_003900.5(SQSTM1):c.532-7C>T rs770329828 0.00001
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=) rs759721454 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=) rs758128093 0.00001
NM_003900.5(SQSTM1):c.674-7A>C rs776278684 0.00001
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=) rs889431769 0.00001
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=) rs774460525 0.00001
NM_003900.5(SQSTM1):c.755-7C>T rs781389243 0.00001
NM_003900.5(SQSTM1):c.755-9C>T rs759140266 0.00001
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu) rs182522590 0.00001
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=) rs779544030 0.00001
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=) rs1280918343 0.00001
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=) rs755859379 0.00001
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=) rs766129922 0.00001
NM_003900.5(SQSTM1):c.970-14G>A rs761682844 0.00001
NM_004082.5(DCTN1):c.1002G>A (p.Glu334=) rs757723673 0.00001
NM_004082.5(DCTN1):c.102G>A (p.Glu34=) rs1207116898 0.00001
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=) rs771325809 0.00001
NM_004082.5(DCTN1):c.1155G>A (p.Lys385=) rs763048243 0.00001
NM_004082.5(DCTN1):c.1288-18A>G rs770601874 0.00001
NM_004082.5(DCTN1):c.1420C>T (p.Leu474=) rs139100051 0.00001
NM_004082.5(DCTN1):c.1479C>T (p.Gly493=) rs754282487 0.00001
NM_004082.5(DCTN1):c.1527G>A (p.Thr509=) rs777762235 0.00001
NM_004082.5(DCTN1):c.153G>A (p.Leu51=) rs765144648 0.00001
NM_004082.5(DCTN1):c.1585-10C>T rs1573159255 0.00001
NM_004082.5(DCTN1):c.1585-5C>G rs762445148 0.00001
NM_004082.5(DCTN1):c.1692C>T (p.Ala564=) rs886043620 0.00001
NM_004082.5(DCTN1):c.1701+15T>G rs375345080 0.00001
NM_004082.5(DCTN1):c.1702-8C>T rs1223678248 0.00001
NM_004082.5(DCTN1):c.1770C>T (p.Ala590=) rs373649455 0.00001
NM_004082.5(DCTN1):c.1977G>A (p.Ser659=) rs750553689 0.00001
NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly) rs774272417 0.00001
NM_004082.5(DCTN1):c.2205T>G (p.Leu735=) rs773099597 0.00001
NM_004082.5(DCTN1):c.2254-10A>G rs954787850 0.00001
NM_004082.5(DCTN1):c.2254-5C>T rs746514094 0.00001
NM_004082.5(DCTN1):c.2269C>T (p.Leu757=) rs778632270 0.00001
NM_004082.5(DCTN1):c.228G>A (p.Arg76=) rs1480799137 0.00001
NM_004082.5(DCTN1):c.2466+16T>G rs892038213 0.00001
NM_004082.5(DCTN1):c.2467-14G>C rs369260205 0.00001
NM_004082.5(DCTN1):c.2467-16C>G rs984523563 0.00001
NM_004082.5(DCTN1):c.2467-6A>G rs150222185 0.00001
NM_004082.5(DCTN1):c.2467-8G>T rs779001284 0.00001
NM_004082.5(DCTN1):c.2478G>A (p.Thr826=) rs1473795697 0.00001
NM_004082.5(DCTN1):c.2499C>T (p.His833=) rs750731203 0.00001
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=) rs767877041 0.00001
NM_004082.5(DCTN1):c.2511C>T (p.Val837=) rs377519506 0.00001
NM_004082.5(DCTN1):c.2523G>T (p.Leu841=) rs199501797 0.00001
NM_004082.5(DCTN1):c.2532G>C (p.Val844=) rs775122005 0.00001
NM_004082.5(DCTN1):c.2640C>T (p.Thr880=) rs1453065894 0.00001
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=) rs1253918840 0.00001
NM_004082.5(DCTN1):c.2760+20G>T rs371973468 0.00001
NM_004082.5(DCTN1):c.2761-5C>T rs749706596 0.00001
NM_004082.5(DCTN1):c.279+10C>T rs1433805841 0.00001
NM_004082.5(DCTN1):c.2938T>C (p.Leu980=) rs370060938 0.00001
NM_004082.5(DCTN1):c.3009A>G (p.Ala1003=) rs781233291 0.00001
NM_004082.5(DCTN1):c.3029+20G>A rs1263362778 0.00001
NM_004082.5(DCTN1):c.3051T>C (p.Asp1017=) rs1573147984 0.00001
NM_004082.5(DCTN1):c.3069C>T (p.Ile1023=) rs780292959 0.00001
NM_004082.5(DCTN1):c.3123C>G (p.Ser1041=) rs769629500 0.00001
NM_004082.5(DCTN1):c.3196+8C>T rs1288930704 0.00001
NM_004082.5(DCTN1):c.3197-13A>G rs374049568 0.00001
NM_004082.5(DCTN1):c.3211+17G>A rs373651754 0.00001
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) rs769145486 0.00001
NM_004082.5(DCTN1):c.3309C>T (p.His1103=) rs756911555 0.00001
NM_004082.5(DCTN1):c.3312C>T (p.Ile1104=) rs777452161 0.00001
NM_004082.5(DCTN1):c.3441G>A (p.Ala1147=) rs760282295 0.00001
NM_004082.5(DCTN1):c.358+12C>T rs759791002 0.00001
NM_004082.5(DCTN1):c.358+15C>T rs753119702 0.00001
NM_004082.5(DCTN1):c.359-10C>T rs568747765 0.00001
NM_004082.5(DCTN1):c.3610-6C>T rs751068198 0.00001
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=) rs1032786897 0.00001
NM_004082.5(DCTN1):c.3660C>G (p.Pro1220=) rs1346257186 0.00001
NM_004082.5(DCTN1):c.3666C>T (p.Asp1222=) rs1573138492 0.00001
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=) rs886056328 0.00001
NM_004082.5(DCTN1):c.384T>C (p.Thr128=) rs751553167 0.00001
NM_004082.5(DCTN1):c.396G>C (p.Arg132=) rs1335450210 0.00001
NM_004082.5(DCTN1):c.426C>T (p.Ala142=) rs766656845 0.00001
NM_004082.5(DCTN1):c.42C>T (p.Ser14=) rs535554555 0.00001
NM_004082.5(DCTN1):c.459G>A (p.Thr153=) rs773422770 0.00001
NM_004082.5(DCTN1):c.585C>T (p.Ile195=) rs1016485773 0.00001
NM_004082.5(DCTN1):c.645+10G>C rs776017204 0.00001
NM_004082.5(DCTN1):c.646-15G>A rs201438504 0.00001
NM_004082.5(DCTN1):c.702G>T (p.Leu234=) rs758500443 0.00001
NM_004082.5(DCTN1):c.759C>T (p.Ile253=) rs1553465355 0.00001
NM_004082.5(DCTN1):c.81G>A (p.Leu27=) rs780626071 0.00001
NM_004082.5(DCTN1):c.843+9C>T rs1031141306 0.00001
NM_004082.5(DCTN1):c.90C>T (p.Gly30=) rs932576887 0.00001
NM_004738.5(VAPB):c.333G>A (p.Pro111=) rs762402998 0.00001
NM_004738.5(VAPB):c.348T>C (p.Asp116=) rs751762415 0.00001
NM_004738.5(VAPB):c.58+13G>A rs1987731552 0.00001
NM_004738.5(VAPB):c.58+9C>T rs1232943562 0.00001
NM_004738.5(VAPB):c.597G>A (p.Arg199=) rs748793394 0.00001
NM_004738.5(VAPB):c.699C>T (p.Ile233=) rs372088559 0.00001
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_004960.4(FUS):c.174T>C (p.Tyr58=) rs780887876 0.00001
NM_004960.4(FUS):c.191-10A>G rs771990569 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.318C>T (p.Pro106=) rs200264709 0.00001
NM_004960.4(FUS):c.375C>G (p.Pro125=) rs368148475 0.00001
NM_004960.4(FUS):c.99C>T (p.Tyr33=) rs371503663 0.00001
NM_005866.4(SIGMAR1):c.147C>T (p.Tyr49=) rs1020552197 0.00001
NM_005866.4(SIGMAR1):c.152-6C>T rs772336092 0.00001
NM_005866.4(SIGMAR1):c.18C>T (p.Gly6=) rs1479520771 0.00001
NM_005866.4(SIGMAR1):c.195G>A (p.Leu65=) rs1193231930 0.00001
NM_005866.4(SIGMAR1):c.303C>T (p.Ser101=) rs59277791 0.00001
NM_005866.4(SIGMAR1):c.331T>C (p.Leu111=) rs1158511598 0.00001
NM_005866.4(SIGMAR1):c.366T>C (p.Ala122=) rs754723315 0.00001
NM_005866.4(SIGMAR1):c.445+13G>A rs1295625431 0.00001
NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=) rs751571040 0.00001
NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=) rs779179488 0.00001
NM_007126.5(VCP):c.1081+8C>T rs763106348 0.00001
NM_007126.5(VCP):c.1317C>T (p.Ala439=) rs1009713233 0.00001
NM_007126.5(VCP):c.1360-12C>T rs949886024 0.00001
NM_007126.5(VCP):c.1360-4C>G rs769279961 0.00001
NM_007126.5(VCP):c.1371C>T (p.Ser457=) rs747614057 0.00001
NM_007126.5(VCP):c.1401C>T (p.Thr467=) rs916113917 0.00001
NM_007126.5(VCP):c.1437C>T (p.Ile479=) rs778069672 0.00001
NM_007126.5(VCP):c.1474C>T (p.Leu492=) rs1203880418 0.00001
NM_007126.5(VCP):c.147G>A (p.Leu49=) rs1359551592 0.00001
NM_007126.5(VCP):c.1482+9A>G rs766140133 0.00001
NM_007126.5(VCP):c.1483-20C>T rs1383725061 0.00001
NM_007126.5(VCP):c.1512G>A (p.Leu504=) rs200548800 0.00001
NM_007126.5(VCP):c.1521C>T (p.Gly507=) rs180999023 0.00001
NM_007126.5(VCP):c.1566T>C (p.Cys522=) rs1828698940 0.00001
NM_007126.5(VCP):c.1695+11A>G rs767026681 0.00001
NM_007126.5(VCP):c.1696-4A>G rs963637081 0.00001
NM_007126.5(VCP):c.1696-8T>C rs1401092893 0.00001
NM_007126.5(VCP):c.1776T>C (p.Asp592=) rs768951162 0.00001
NM_007126.5(VCP):c.18-4C>G rs1563981227 0.00001
NM_007126.5(VCP):c.1887T>C (p.Ile629=) rs777402266 0.00001
NM_007126.5(VCP):c.2028T>C (p.Ala676=) rs1828671869 0.00001
NM_007126.5(VCP):c.2052A>G (p.Gly684=) rs753011642 0.00001
NM_007126.5(VCP):c.213C>T (p.Val71=) rs1195805928 0.00001
NM_007126.5(VCP):c.2316-8G>A rs1440311672 0.00001
NM_007126.5(VCP):c.302+12G>A rs1293215454 0.00001
NM_007126.5(VCP):c.312A>G (p.Pro104=) rs1484541220 0.00001
NM_007126.5(VCP):c.349C>T (p.Leu117=) rs761887444 0.00001
NM_007126.5(VCP):c.351G>T (p.Leu117=) rs1014455703 0.00001
NM_007126.5(VCP):c.418C>T (p.Leu140=) rs778524417 0.00001
NM_007126.5(VCP):c.426G>A (p.Ala142=) rs577812326 0.00001
NM_007126.5(VCP):c.446-15T>C rs374074931 0.00001
NM_007126.5(VCP):c.446-4G>A rs370700002 0.00001
NM_007126.5(VCP):c.519T>C (p.Tyr173=) rs762659353 0.00001
NM_007126.5(VCP):c.577-9C>T rs1389133643 0.00001
NM_007126.5(VCP):c.618T>C (p.Ile206=) rs1471384169 0.00001
NM_007126.5(VCP):c.628A>C (p.Arg210=) rs755168304 0.00001
NM_007126.5(VCP):c.675A>G (p.Arg225=) rs780139186 0.00001
NM_007126.5(VCP):c.702T>C (p.Gly234=) rs765086841 0.00001
NM_007126.5(VCP):c.708+14G>T rs753574871 0.00001
NM_007126.5(VCP):c.711T>G (p.Pro237=) rs755771885 0.00001
NM_007126.5(VCP):c.804G>A (p.Leu268=) rs369094157 0.00001
NM_007126.5(VCP):c.87T>C (p.Asp29=) rs1828873065 0.00001
NM_007126.5(VCP):c.897C>G (p.Ala299=) rs974283155 0.00001
NM_007126.5(VCP):c.975A>G (p.Val325=) rs749849000 0.00001
NM_007375.4(TARDBP):c.162C>T (p.Val54=) rs751073315 0.00001
NM_007375.4(TARDBP):c.402+19A>G rs200818944 0.00001
NM_007375.4(TARDBP):c.411A>G (p.Lys137=) rs766028449 0.00001
NM_007375.4(TARDBP):c.543+9G>A rs370342366 0.00001
NM_007375.4(TARDBP):c.622C>A (p.Arg208=) rs1643615862 0.00001
NM_013254.4(TBK1):c.1340+13T>C rs1010954287 0.00001
NM_013254.4(TBK1):c.1340+8A>G rs2040817313 0.00001
NM_013254.4(TBK1):c.1422C>T (p.Asn474=) rs747788401 0.00001
NM_013254.4(TBK1):c.1476G>A (p.Ala492=) rs139653737 0.00001
NM_013254.4(TBK1):c.1584A>G (p.Pro528=) rs1592375893 0.00001
NM_013254.4(TBK1):c.1960-19_1960-18insC rs1213123906 0.00001
NM_013254.4(TBK1):c.2047T>C (p.Leu683=) rs369067312 0.00001
NM_013254.4(TBK1):c.381A>C (p.Arg127=) rs749847349 0.00001
NM_013254.4(TBK1):c.438G>A (p.Gly146=) rs751439290 0.00001
NM_013254.4(TBK1):c.540+8_540+9del rs761043079 0.00001
NM_013254.4(TBK1):c.88-9T>C rs758061744 0.00001
NM_013254.4(TBK1):c.945G>A (p.Ser315=) rs775905530 0.00001
NM_013444.4(UBQLN2):c.1329A>G (p.Leu443=) rs766621093 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=) rs1364419230 0.00001
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr) rs778488721 0.00001
NM_015046.7(SETX):c.1479C>T (p.Ala493=) rs771289068 0.00001
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979 0.00001
NM_015046.7(SETX):c.172C>T (p.His58Tyr) rs757760067 0.00001
NM_015046.7(SETX):c.177+18G>A rs201574662 0.00001
NM_015046.7(SETX):c.1833A>G (p.Ala611=) rs751829537 0.00001
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702 0.00001
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu) rs776432277 0.00001
NM_015046.7(SETX):c.2552A>T (p.Asp851Val) rs375242350 0.00001
NM_015046.7(SETX):c.27A>G (p.Pro9=) rs761487448 0.00001
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly) rs1354775471 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.3018A>C (p.Gly1006=) rs997364371 0.00001
NM_015046.7(SETX):c.304A>G (p.Thr102Ala) rs770962447 0.00001
NM_015046.7(SETX):c.3099C>T (p.Leu1033=) rs755461440 0.00001
NM_015046.7(SETX):c.3294C>T (p.Asp1098=) rs61732723 0.00001
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr) rs545072717 0.00001
NM_015046.7(SETX):c.3351T>C (p.Thr1117=) rs1846972454 0.00001
NM_015046.7(SETX):c.3525G>A (p.Arg1175=) rs1353053473 0.00001
NM_015046.7(SETX):c.3603T>C (p.Ile1201=) rs565774066 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.3723C>A (p.Thr1241=) rs367828971 0.00001
NM_015046.7(SETX):c.372T>G (p.Leu124=) rs1263479038 0.00001
NM_015046.7(SETX):c.3780A>G (p.Leu1260=) rs375854407 0.00001
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val) rs764516725 0.00001
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253 0.00001
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys) rs760272692 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) rs756823072 0.00001
NM_015046.7(SETX):c.4283A>G (p.His1428Arg) rs778236359 0.00001
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) rs759545112 0.00001
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839 0.00001
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668 0.00001
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu) rs1165229035 0.00001
NM_015046.7(SETX):c.484C>T (p.His162Tyr) rs1186709340 0.00001
NM_015046.7(SETX):c.4860T>G (p.Leu1620=) rs758938142 0.00001
NM_015046.7(SETX):c.4872A>G (p.Leu1624=) rs567475841 0.00001
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro) rs142509544 0.00001
NM_015046.7(SETX):c.4971T>C (p.Asn1657=) rs1159266524 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.499-10C>T rs1444405452 0.00001
NM_015046.7(SETX):c.499-9T>C rs760214195 0.00001
NM_015046.7(SETX):c.5548+17G>A rs1313333580 0.00001
NM_015046.7(SETX):c.5719C>T (p.Leu1907=) rs767373911 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5782-6A>G rs781129157 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser) rs762791927 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5950-14G>A rs375632375 0.00001
NM_015046.7(SETX):c.5970A>G (p.Ser1990=) rs1844648216 0.00001
NM_015046.7(SETX):c.5973C>T (p.Asp1991=) rs1210056357 0.00001
NM_015046.7(SETX):c.6024T>C (p.Pro2008=) rs1045096306 0.00001
NM_015046.7(SETX):c.6106+13T>C rs370909687 0.00001
NM_015046.7(SETX):c.6107-5A>G rs1284217475 0.00001
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) rs200269892 0.00001
NM_015046.7(SETX):c.6474T>C (p.Ser2158=) rs1216377543 0.00001
NM_015046.7(SETX):c.6546+18C>G rs915871195 0.00001
NM_015046.7(SETX):c.6654+12A>G rs1015821444 0.00001
NM_015046.7(SETX):c.6771G>A (p.Gln2257=) rs778895541 0.00001
NM_015046.7(SETX):c.6804T>A (p.Pro2268=) rs145236863 0.00001
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr) rs1421665944 0.00001
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly) rs370135596 0.00001
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) rs141657462 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163 0.00001
NM_015046.7(SETX):c.765C>A (p.Ser255=) rs774297687 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576 0.00001
NM_018325.5(C9orf72):c.1259+8A>C rs182259442 0.00001
NM_018834.6(MATR3):c.1130-9C>T rs760841083 0.00001
NM_018834.6(MATR3):c.1401A>G (p.Arg467=) rs774463869 0.00001
NM_018834.6(MATR3):c.1404T>C (p.Val468=) rs1429293984 0.00001
NM_018834.6(MATR3):c.1512G>A (p.Pro504=) rs777712375 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1603-9C>A rs188764121 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.1938G>A (p.Gln646=) rs755732018 0.00001
NM_018834.6(MATR3):c.1947T>C (p.Asn649=) rs777432521 0.00001
NM_018834.6(MATR3):c.1953T>C (p.Leu651=) rs770765421 0.00001
NM_018834.6(MATR3):c.2181C>T (p.Asn727=) rs772833565 0.00001
NM_018834.6(MATR3):c.2238A>G (p.Glu746=) rs747456128 0.00001
NM_018834.6(MATR3):c.2265C>T (p.Asn755=) rs1361987333 0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064 0.00001
NM_018834.6(MATR3):c.2460T>C (p.His820=) rs1271177846 0.00001
NM_018834.6(MATR3):c.2538A>G (p.Glu846=) rs747688305 0.00001
NM_018834.6(MATR3):c.507A>G (p.Pro169=) rs1336473659 0.00001
NM_018834.6(MATR3):c.597G>A (p.Val199=) rs1754794221 0.00001
NM_018834.6(MATR3):c.974+7G>A rs1443299870 0.00001
NM_025137.4(SPG11):c.2379G>A (p.Val793=) rs202245950 0.00001
NM_025137.4(SPG11):c.3292-6dup rs777377848 0.00001
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=) rs1388337783 0.00001
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=) rs776154524 0.00001
NM_213720.3(CHCHD10):c.189C>T (p.His63=) rs202148090 0.00001
NM_213720.3(CHCHD10):c.192C>T (p.Val64=) rs1392838932 0.00001
NM_213720.3(CHCHD10):c.261+9C>A rs746028073 0.00001
NM_213720.3(CHCHD10):c.306C>T (p.Cys102=) rs527737360 0.00001
NM_213720.3(CHCHD10):c.372C>T (p.Gly124=) rs372902325 0.00001
NM_213720.3(CHCHD10):c.409+11G>A rs745652443 0.00001
NM_213720.3(CHCHD10):c.42-8C>T rs1191330602 0.00001
NM_000454.5(SOD1):c.150G>A (p.Glu50=)
NM_000454.5(SOD1):c.15C>T (p.Ala5=)
NM_000454.5(SOD1):c.165A>G (p.Thr55=)
NM_000454.5(SOD1):c.170-11C>T
NM_000454.5(SOD1):c.170-19TTC[2]
NM_000454.5(SOD1):c.239+15A>T
NM_000454.5(SOD1):c.239+17C>G rs2123434677
NM_000454.5(SOD1):c.240-14T>C
NM_000454.5(SOD1):c.240-15C>G
NM_000454.5(SOD1):c.240-6T>A rs2123435321
NM_000454.5(SOD1):c.240-9_240-6del
NM_000454.5(SOD1):c.288C>T (p.Ala96=)
NM_000454.5(SOD1):c.297T>C (p.Ser99=)
NM_000454.5(SOD1):c.318A>T (p.Ser106=)
NM_000454.5(SOD1):c.321C>T (p.Leu107=)
NM_000454.5(SOD1):c.351A>C (p.Thr117=)
NM_000454.5(SOD1):c.358-17_358-15del rs774491046
NM_000454.5(SOD1):c.387A>G (p.Lys129=)
NM_000454.5(SOD1):c.39C>T (p.Gly13=)
NM_000454.5(SOD1):c.408A>G (p.Thr136=)
NM_000454.5(SOD1):c.414A>G (p.Thr138=)
NM_000454.5(SOD1):c.444T>C (p.Gly148=)
NM_000454.5(SOD1):c.450T>C (p.Ile150=)
NM_000454.5(SOD1):c.60T>C (p.Asn20=)
NM_000454.5(SOD1):c.87A>G (p.Pro29=)
NM_000454.5(SOD1):c.96G>A (p.Val32=)
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
NM_001008212.2(OPTN):c.1149-13T>A
NM_001008212.2(OPTN):c.1243-11T>G
NM_001008212.2(OPTN):c.1243-4T>G
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
NM_001008212.2(OPTN):c.1401+9C>T
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
NM_001008212.2(OPTN):c.1532+14A>G
NM_001008212.2(OPTN):c.156C>T (p.His52=)
NM_001008212.2(OPTN):c.1612+17C>A
NM_001008212.2(OPTN):c.1612+17C>T
NM_001008212.2(OPTN):c.1613-13T>C
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=) rs767360238
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=) rs1833710699
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
NM_001008212.2(OPTN):c.261G>A (p.Glu87=) rs749333165
NM_001008212.2(OPTN):c.369+11C>G
NM_001008212.2(OPTN):c.369+11C>T
NM_001008212.2(OPTN):c.369+12G>A
NM_001008212.2(OPTN):c.370-13T>C rs1410187067
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
NM_001008212.2(OPTN):c.435C>T (p.Thr145=) rs1042488570
NM_001008212.2(OPTN):c.490C>T (p.Leu164=)
NM_001008212.2(OPTN):c.552+11G>C rs1015367767
NM_001008212.2(OPTN):c.553-12C>T
NM_001008212.2(OPTN):c.553-17C>T
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
NM_001008212.2(OPTN):c.612A>G (p.Thr204=) rs1588441388
NM_001008212.2(OPTN):c.626+17T>A
NM_001008212.2(OPTN):c.626+18C>T
NM_001008212.2(OPTN):c.627-16C>T
NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
NM_001008212.2(OPTN):c.678C>T (p.Phe226=) rs560438634
NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
NM_001008212.2(OPTN):c.78C>T (p.His26=) rs1588433321
NM_001008212.2(OPTN):c.804A>C (p.Thr268=)
NM_001008212.2(OPTN):c.822T>A (p.Ile274=) rs747912539
NM_001008212.2(OPTN):c.843C>T (p.Ser281=)
NM_001008212.2(OPTN):c.882+19C>T
NM_001008212.2(OPTN):c.882+20G>A
NM_001008212.2(OPTN):c.883-10C>T
NM_001008212.2(OPTN):c.883-6T>C rs1588446686
NM_001008212.2(OPTN):c.924T>G (p.Ser308=)
NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
NM_001008212.2(OPTN):c.998+18A>G rs1833410378
NM_001008212.2(OPTN):c.998+19T>C rs1833410442
NM_001008212.2(OPTN):c.999-16T>C
NM_001008212.2(OPTN):c.999-20G>A
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057
NM_001372574.1(ATXN2):c.289-11del rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=) rs2113512674
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=) rs2113512810
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=) rs569052431
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=) rs778833279
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=) rs944423329
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=) rs372271201
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
NM_003900.5(SQSTM1):c.1165+10C>T
NM_003900.5(SQSTM1):c.1165+12A>G
NM_003900.5(SQSTM1):c.1165+7G>T
NM_003900.5(SQSTM1):c.1165+9del
NM_003900.5(SQSTM1):c.1166-12C>T rs201463748
NM_003900.5(SQSTM1):c.1166-20C>T
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=) rs1440412378
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=) rs1449666849
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu) rs201795943
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=) rs368933511
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=) rs1554092111
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=) rs1383894920
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=) rs753600779
NM_003900.5(SQSTM1):c.147C>T (p.Ser49=) rs1258824064
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=) rs756670021
NM_003900.5(SQSTM1):c.165C>T (p.Phe55=) rs886060501
NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=) rs767340839
NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)
NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)
NM_003900.5(SQSTM1):c.195G>T (p.Ala65=)
NM_003900.5(SQSTM1):c.205+11C>G
NM_003900.5(SQSTM1):c.205+12G>C rs869101530
NM_003900.5(SQSTM1):c.205+12G>T rs869101530
NM_003900.5(SQSTM1):c.205+14G>A
NM_003900.5(SQSTM1):c.205+14G>C
NM_003900.5(SQSTM1):c.205+16A>C
NM_003900.5(SQSTM1):c.205+18C>G rs1757759662
NM_003900.5(SQSTM1):c.205+18C>T
NM_003900.5(SQSTM1):c.205+19G>T
NM_003900.5(SQSTM1):c.205+7G>A rs912066047
NM_003900.5(SQSTM1):c.205+7G>T
NM_003900.5(SQSTM1):c.206-11A>G
NM_003900.5(SQSTM1):c.206-4C>G rs370778198
NM_003900.5(SQSTM1):c.206-4C>T rs370778198
NM_003900.5(SQSTM1):c.206-7_206-4del rs779766449
NM_003900.5(SQSTM1):c.206-8C>T
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=) rs752464933
NM_003900.5(SQSTM1):c.301+10T>A
NM_003900.5(SQSTM1):c.301+12C>T rs141530539
NM_003900.5(SQSTM1):c.301+13_301+24del rs1582006453
NM_003900.5(SQSTM1):c.301+20G>A
NM_003900.5(SQSTM1):c.302-10C>A
NM_003900.5(SQSTM1):c.302-10C>T
NM_003900.5(SQSTM1):c.302-11C>T
NM_003900.5(SQSTM1):c.302-13A>G
NM_003900.5(SQSTM1):c.302-15T>C
NM_003900.5(SQSTM1):c.302-20T>C
NM_003900.5(SQSTM1):c.302-4G>A rs1757883398
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
NM_003900.5(SQSTM1):c.327C>T (p.His109=) rs2113487546
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=) rs2113487764
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=) rs2113487897
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=) rs374417389
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=) rs1284664878
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
NM_003900.5(SQSTM1):c.531+14C>G
NM_003900.5(SQSTM1):c.531+15dup rs2113488538
NM_003900.5(SQSTM1):c.531+16G>A
NM_003900.5(SQSTM1):c.531+16G>T
NM_003900.5(SQSTM1):c.531+7A>G rs2113488503
NM_003900.5(SQSTM1):c.532-18T>C
NM_003900.5(SQSTM1):c.532-5C>T
NM_003900.5(SQSTM1):c.532-6C>T rs2113488787
NM_003900.5(SQSTM1):c.532-7C>A rs770329828
NM_003900.5(SQSTM1):c.532-9C>T
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=) rs1582002994
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=) rs2113489068
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=) rs1253593077
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) rs771036207
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=) rs2113489256
NM_003900.5(SQSTM1):c.673+15G>A
NM_003900.5(SQSTM1):c.673+19C>A
NM_003900.5(SQSTM1):c.673+19C>T
NM_003900.5(SQSTM1):c.673+9T>G rs2113489349
NM_003900.5(SQSTM1):c.674-11A>G
NM_003900.5(SQSTM1):c.674-13G>A rs2113491112
NM_003900.5(SQSTM1):c.674-5C>T
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=) rs140341924
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=) rs766419538
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=) rs889431769
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
NM_003900.5(SQSTM1):c.754+11C>G
NM_003900.5(SQSTM1):c.754+11C>T
NM_003900.5(SQSTM1):c.754+13C>A rs1232662115
NM_003900.5(SQSTM1):c.754+18C>T
NM_003900.5(SQSTM1):c.755-12C>T rs1043468451
NM_003900.5(SQSTM1):c.755-13C>T
NM_003900.5(SQSTM1):c.755-20C>G
NM_003900.5(SQSTM1):c.755-4C>T
NM_003900.5(SQSTM1):c.755-6C>T
NM_003900.5(SQSTM1):c.755-8G>T rs369581639
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=) rs372827450
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=) rs1214357767
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=) rs2113479661
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=) rs2113510724
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=) rs2113510916
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=) rs148984239
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
NM_003900.5(SQSTM1):c.969+14C>T
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
NM_003900.5(SQSTM1):c.970-13A>G rs1013927869
NM_003900.5(SQSTM1):c.970-4C>T
NM_003900.5(SQSTM1):c.970-8T>C
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
NM_004082.5(DCTN1):c.1008T>C (p.Thr336=)
NM_004082.5(DCTN1):c.1023C>T (p.Ile341=) rs1211302208
NM_004082.5(DCTN1):c.1026C>T (p.Leu342=)
NM_004082.5(DCTN1):c.1048+10C>T rs2103659237
NM_004082.5(DCTN1):c.1048+17T>C
NM_004082.5(DCTN1):c.1048+20T>A rs1674765824
NM_004082.5(DCTN1):c.1048+8G>A rs1335279632
NM_004082.5(DCTN1):c.1049-13_1049-12del
NM_004082.5(DCTN1):c.1062T>C (p.Ala354=)
NM_004082.5(DCTN1):c.1125G>T (p.Val375=)
NM_004082.5(DCTN1):c.1127+14T>C
NM_004082.5(DCTN1):c.1127+16C>T
NM_004082.5(DCTN1):c.1127+8C>G rs2103657565
NM_004082.5(DCTN1):c.1128-10A>G
NM_004082.5(DCTN1):c.1128-13C>G
NM_004082.5(DCTN1):c.1128-13C>T
NM_004082.5(DCTN1):c.1128-15C>G
NM_004082.5(DCTN1):c.1128-16C>T rs2103656711
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=) rs886056332
NM_004082.5(DCTN1):c.1161G>A (p.Glu387=) rs72659373
NM_004082.5(DCTN1):c.1170G>A (p.Lys390=) rs1674741348
NM_004082.5(DCTN1):c.1200A>G (p.Gln400=)
NM_004082.5(DCTN1):c.1227G>C (p.Arg409=) rs2103655320
NM_004082.5(DCTN1):c.1248A>G (p.Leu416=) rs2103655091
NM_004082.5(DCTN1):c.1251C>T (p.Ser417=) rs1553465163
NM_004082.5(DCTN1):c.1284G>A (p.Glu428=)
NM_004082.5(DCTN1):c.1287+12C>T
NM_004082.5(DCTN1):c.1288-12C>T
NM_004082.5(DCTN1):c.1288-19T>C rs2103653681
NM_004082.5(DCTN1):c.1288-20C>T
NM_004082.5(DCTN1):c.1335T>C (p.Asp445=)
NM_004082.5(DCTN1):c.1356G>A (p.Glu452=)
NM_004082.5(DCTN1):c.1392+13C>T rs2103652491
NM_004082.5(DCTN1):c.1392+7G>A
NM_004082.5(DCTN1):c.1392+8_1392+9del rs1573161311
NM_004082.5(DCTN1):c.1393-17_1393-16del
NM_004082.5(DCTN1):c.1393-4C>T
NM_004082.5(DCTN1):c.1393-4del
NM_004082.5(DCTN1):c.1393-7G>A rs886056330
NM_004082.5(DCTN1):c.1393-9_1393-7del rs1452712153
NM_004082.5(DCTN1):c.1398G>C (p.Ala466=)
NM_004082.5(DCTN1):c.1425G>A (p.Gln475=)
NM_004082.5(DCTN1):c.1461G>A (p.Glu487=) rs758555575
NM_004082.5(DCTN1):c.150A>G (p.Thr50=) rs1295226562
NM_004082.5(DCTN1):c.153G>C (p.Leu51=) rs765144648
NM_004082.5(DCTN1):c.1542G>A (p.Gln514=) rs2103646064
NM_004082.5(DCTN1):c.1572C>T (p.Thr524=)
NM_004082.5(DCTN1):c.1581A>G (p.Leu527=)
NM_004082.5(DCTN1):c.1584+12C>T
NM_004082.5(DCTN1):c.1584+18G>A
NM_004082.5(DCTN1):c.1584+19C>A
NM_004082.5(DCTN1):c.1584+20T>C rs1441516485
NM_004082.5(DCTN1):c.1584+9C>T rs751116557
NM_004082.5(DCTN1):c.1585-11T>C rs2103645005
NM_004082.5(DCTN1):c.1585-12C>T
NM_004082.5(DCTN1):c.1585-13TC[2] rs777190760
NM_004082.5(DCTN1):c.1585-14G>C
NM_004082.5(DCTN1):c.1585-17A>G
NM_004082.5(DCTN1):c.1585-20T>C
NM_004082.5(DCTN1):c.1585-4C>G
NM_004082.5(DCTN1):c.1585-6T>C rs2103644864
NM_004082.5(DCTN1):c.1602G>C (p.Leu534=)
NM_004082.5(DCTN1):c.1626G>A (p.Val542=) rs2103644312
NM_004082.5(DCTN1):c.1629G>A (p.Glu543=)
NM_004082.5(DCTN1):c.1635A>G (p.Gln545=)
NM_004082.5(DCTN1):c.1659T>C (p.Phe553=)
NM_004082.5(DCTN1):c.1662C>T (p.Asp554=) rs188566922
NM_004082.5(DCTN1):c.1671C>T (p.Ile557=)
NM_004082.5(DCTN1):c.1683G>A (p.Glu561=) rs1573158885
NM_004082.5(DCTN1):c.1701+10G>C rs2103643570
NM_004082.5(DCTN1):c.1702-19C>T
NM_004082.5(DCTN1):c.1702-20C>T
NM_004082.5(DCTN1):c.1702-7C>G
NM_004082.5(DCTN1):c.1707T>C (p.Ile569=) rs765410716
NM_004082.5(DCTN1):c.1758C>A (p.Ser586=) rs773517017
NM_004082.5(DCTN1):c.1761G>C (p.Leu587=)
NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)
NM_004082.5(DCTN1):c.1854+10A>G
NM_004082.5(DCTN1):c.1854+18C>T
NM_004082.5(DCTN1):c.1854+9A>G
NM_004082.5(DCTN1):c.1855-7C>T rs2103634309
NM_004082.5(DCTN1):c.1863G>C (p.Leu621=) rs2103634135
NM_004082.5(DCTN1):c.1867C>A (p.Arg623=) rs764568642
NM_004082.5(DCTN1):c.1986G>A (p.Leu662=) rs1409478361
NM_004082.5(DCTN1):c.1995C>A (p.Ala665=) rs767698839
NM_004082.5(DCTN1):c.2004C>T (p.His668=)
NM_004082.5(DCTN1):c.2015+19C>A
NM_004082.5(DCTN1):c.2015+5G>A rs770696267
NM_004082.5(DCTN1):c.2016-12T>C
NM_004082.5(DCTN1):c.2031C>T (p.Cys677=) rs112930313
NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)
NM_004082.5(DCTN1):c.2088G>A (p.Glu696=)
NM_004082.5(DCTN1):c.2091C>G (p.Arg697=)
NM_004082.5(DCTN1):c.2103C>T (p.Phe701=)
NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
NM_004082.5(DCTN1):c.2154G>A (p.Glu718=)
NM_004082.5(DCTN1):c.2163C>T (p.Thr721=)
NM_004082.5(DCTN1):c.2184+16T>C
NM_004082.5(DCTN1):c.2184+19G>A rs1349408124
NM_004082.5(DCTN1):c.2185-15G>C
NM_004082.5(DCTN1):c.2185-17_2185-14del
NM_004082.5(DCTN1):c.2202C>T (p.His734=) rs2103626323
NM_004082.5(DCTN1):c.2208C>G (p.Ala736=)
NM_004082.5(DCTN1):c.2217T>G (p.Pro739=) rs1553464448
NM_004082.5(DCTN1):c.2238G>A (p.Leu746=) rs1553464441
NM_004082.5(DCTN1):c.2253+13G>A
NM_004082.5(DCTN1):c.2253+14G>T rs2103625486
NM_004082.5(DCTN1):c.2253+16C>T
NM_004082.5(DCTN1):c.2254-18A>G
NM_004082.5(DCTN1):c.2254-8C>T rs1674478166
NM_004082.5(DCTN1):c.2259G>A (p.Thr753=)
NM_004082.5(DCTN1):c.2259G>C (p.Thr753=) rs200275059
NM_004082.5(DCTN1):c.2283T>C (p.Ser761=) rs879630850
NM_004082.5(DCTN1):c.2292A>G (p.Val764=) rs1290529283
NM_004082.5(DCTN1):c.2301G>A (p.Leu767=)
NM_004082.5(DCTN1):c.2316+15A>G
NM_004082.5(DCTN1):c.2317-15C>G
NM_004082.5(DCTN1):c.2317-16T>C rs1674462194
NM_004082.5(DCTN1):c.2317-19T>C
NM_004082.5(DCTN1):c.2317-20A>G
NM_004082.5(DCTN1):c.231G>A (p.Lys77=)
NM_004082.5(DCTN1):c.2328G>A (p.Glu776=) rs2104417915
NM_004082.5(DCTN1):c.2367T>G (p.Thr789=) rs994669046
NM_004082.5(DCTN1):c.2382C>A (p.Ile794=) rs142107482
NM_004082.5(DCTN1):c.2418A>G (p.Pro806=) rs2104417117
NM_004082.5(DCTN1):c.2442A>G (p.Pro814=) rs2104416925
NM_004082.5(DCTN1):c.2454C>G (p.Ala818=) rs766673794
NM_004082.5(DCTN1):c.2466+17G>C rs2104416659
NM_004082.5(DCTN1):c.2467-17T>C
NM_004082.5(DCTN1):c.2467-7C>G
NM_004082.5(DCTN1):c.2469A>G (p.Val823=)
NM_004082.5(DCTN1):c.2496A>G (p.Lys832=)
NM_004082.5(DCTN1):c.24G>A (p.Val8=)
NM_004082.5(DCTN1):c.2520G>A (p.Val840=) rs2104415505
NM_004082.5(DCTN1):c.2628+11A>G
NM_004082.5(DCTN1):c.2628+3G>A
NM_004082.5(DCTN1):c.2629-13T>C
NM_004082.5(DCTN1):c.2629-18T>C
NM_004082.5(DCTN1):c.2676A>G (p.Ser892=)
NM_004082.5(DCTN1):c.2688C>T (p.Leu896=)
NM_004082.5(DCTN1):c.2706G>A (p.Lys902=)
NM_004082.5(DCTN1):c.2760+10G>C rs2104413368
NM_004082.5(DCTN1):c.2760+11A>G
NM_004082.5(DCTN1):c.2760+18T>C
NM_004082.5(DCTN1):c.2760+8G>A
NM_004082.5(DCTN1):c.2761-13_2761-10dup rs1308261864
NM_004082.5(DCTN1):c.2761-14C>T
NM_004082.5(DCTN1):c.2761-16A>C
NM_004082.5(DCTN1):c.2761-16A>G
NM_004082.5(DCTN1):c.2761-19C>T
NM_004082.5(DCTN1):c.2761-20C>G
NM_004082.5(DCTN1):c.2769G>A (p.Pro923=)
NM_004082.5(DCTN1):c.279+11C>A
NM_004082.5(DCTN1):c.279+20G>T
NM_004082.5(DCTN1):c.280-14del
NM_004082.5(DCTN1):c.280-34_280-12del rs762313810
NM_004082.5(DCTN1):c.280-5C>T rs1675307447
NM_004082.5(DCTN1):c.2835C>A (p.Leu945=) rs138305126
NM_004082.5(DCTN1):c.2835C>T (p.Leu945=) rs138305126
NM_004082.5(DCTN1):c.2871G>A (p.Lys957=)
NM_004082.5(DCTN1):c.2886+18T>C rs1409532126
NM_004082.5(DCTN1):c.2886+19C>T rs1417650041
NM_004082.5(DCTN1):c.2887-14C>G
NM_004082.5(DCTN1):c.2887-5T>A
NM_004082.5(DCTN1):c.2887-8T>A
NM_004082.5(DCTN1):c.288A>G (p.Val96=) rs1553466396
NM_004082.5(DCTN1):c.2937G>A (p.Lys979=)
NM_004082.5(DCTN1):c.2973C>T (p.Ile991=)
NM_004082.5(DCTN1):c.2991G>C (p.Arg997=)
NM_004082.5(DCTN1):c.2992C>T (p.Leu998=)
NM_004082.5(DCTN1):c.3012G>T (p.Leu1004=)
NM_004082.5(DCTN1):c.3024G>A (p.Lys1008=)
NM_004082.5(DCTN1):c.3029+12T>G
NM_004082.5(DCTN1):c.3029+16T>C
NM_004082.5(DCTN1):c.3030-20G>A
NM_004082.5(DCTN1):c.3045A>G (p.Thr1015=)
NM_004082.5(DCTN1):c.3096A>G (p.Glu1032=)
NM_004082.5(DCTN1):c.3129C>T (p.Arg1043=) rs1354118647
NM_004082.5(DCTN1):c.3132G>A (p.Thr1044=) rs375157202
NM_004082.5(DCTN1):c.3174T>G (p.Thr1058=) rs2104406793
NM_004082.5(DCTN1):c.3196+16T>C rs773177686
NM_004082.5(DCTN1):c.3196+19G>A rs1371299263
NM_004082.5(DCTN1):c.3197-11C>G rs374292466
NM_004082.5(DCTN1):c.3197-16G>T
NM_004082.5(DCTN1):c.3197-19T>C rs1258376234
NM_004082.5(DCTN1):c.3197-20A>G
NM_004082.5(DCTN1):c.3197-6G>A
NM_004082.5(DCTN1):c.3197-9C>T
NM_004082.5(DCTN1):c.3211+13T>G
NM_004082.5(DCTN1):c.3211+14C>G
NM_004082.5(DCTN1):c.3211+19C>G rs377261118
NM_004082.5(DCTN1):c.3211+19C>T
NM_004082.5(DCTN1):c.3211+20G>A
NM_004082.5(DCTN1):c.3211+9C>G
NM_004082.5(DCTN1):c.3212-20A>T
NM_004082.5(DCTN1):c.3219C>T (p.Ile1073=)
NM_004082.5(DCTN1):c.3279G>T (p.Leu1093=)
NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)
NM_004082.5(DCTN1):c.33+16C>G
NM_004082.5(DCTN1):c.33+16C>T
NM_004082.5(DCTN1):c.3303G>A (p.Arg1101=)
NM_004082.5(DCTN1):c.3333C>T (p.Asn1111=)
NM_004082.5(DCTN1):c.3339C>A (p.Ile1113=)
NM_004082.5(DCTN1):c.3345+10C>T rs1558932839
NM_004082.5(DCTN1):c.3345+17G>A
NM_004082.5(DCTN1):c.3346-17T>C
NM_004082.5(DCTN1):c.3375C>G (p.Ser1125=) rs921121555
NM_004082.5(DCTN1):c.3378G>A (p.Leu1126=)
NM_004082.5(DCTN1):c.34-13C>A
NM_004082.5(DCTN1):c.34-20T>C
NM_004082.5(DCTN1):c.3417T>C (p.Pro1139=)
NM_004082.5(DCTN1):c.3420C>G (p.Gly1140=)
NM_004082.5(DCTN1):c.3511A>G (p.Ile1171Val)
NM_004082.5(DCTN1):c.3516T>G (p.Thr1172=)
NM_004082.5(DCTN1):c.3529+13C>T rs1674126281
NM_004082.5(DCTN1):c.3529+15A>G
NM_004082.5(DCTN1):c.3529+20C>T rs890924549
NM_004082.5(DCTN1):c.3529+8C>G
NM_004082.5(DCTN1):c.3530-18A>G rs767080798
NM_004082.5(DCTN1):c.3537G>A (p.Lys1179=) rs148146325
NM_004082.5(DCTN1):c.3540C>T (p.Ser1180=)
NM_004082.5(DCTN1):c.358+17_358+18insGA rs2103719288
NM_004082.5(DCTN1):c.359-6C>T
NM_004082.5(DCTN1):c.3595G>A (p.Val1199Ile) rs538291598
NM_004082.5(DCTN1):c.3609+17dup
NM_004082.5(DCTN1):c.3610-16C>T
NM_004082.5(DCTN1):c.3610-17C>G rs2104390002
NM_004082.5(DCTN1):c.3610-20C>T
NM_004082.5(DCTN1):c.3610-5C>G
NM_004082.5(DCTN1):c.3610-5C>T
NM_004082.5(DCTN1):c.3645T>C (p.Pro1215=)
NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)
NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=) rs1573138460
NM_004082.5(DCTN1):c.3699+11G>A
NM_004082.5(DCTN1):c.3699+18_3699+29del rs780978911
NM_004082.5(DCTN1):c.3699+8_3699+9dup
NM_004082.5(DCTN1):c.3699+9dup rs542984299
NM_004082.5(DCTN1):c.3700-18C>A
NM_004082.5(DCTN1):c.3700-18C>T
NM_004082.5(DCTN1):c.3700-20T>C
NM_004082.5(DCTN1):c.3700-4C>T rs1182597936
NM_004082.5(DCTN1):c.3700-6C>A
NM_004082.5(DCTN1):c.3700-6C>T rs371163273
NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)
NM_004082.5(DCTN1):c.3747C>G (p.Thr1249=) rs759710617
NM_004082.5(DCTN1):c.3747C>T (p.Thr1249=) rs759710617
NM_004082.5(DCTN1):c.3780C>T (p.His1260=)
NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=) rs779676968
NM_004082.5(DCTN1):c.378A>G (p.Ala126=)
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys) rs146083590
NM_004082.5(DCTN1):c.3828C>T (p.Leu1276=) rs374006190
NM_004082.5(DCTN1):c.3834C>T (p.Ser1278=)
NM_004082.5(DCTN1):c.393+15G>A
NM_004082.5(DCTN1):c.393+15G>T rs535614130
NM_004082.5(DCTN1):c.394-10C>T rs541163314
NM_004082.5(DCTN1):c.394-17dup rs771736182
NM_004082.5(DCTN1):c.394-20C>T
NM_004082.5(DCTN1):c.394-9_394-7del rs932190621
NM_004082.5(DCTN1):c.414+12A>C
NM_004082.5(DCTN1):c.415-5G>A rs2103694423
NM_004082.5(DCTN1):c.432+10C>T rs758964727
NM_004082.5(DCTN1):c.432+14C>T
NM_004082.5(DCTN1):c.432+18C>A rs201820150
NM_004082.5(DCTN1):c.432+18C>T rs201820150
NM_004082.5(DCTN1):c.432+19G>A rs375037820
NM_004082.5(DCTN1):c.432+19G>C
NM_004082.5(DCTN1):c.432+19G>T
NM_004082.5(DCTN1):c.433-17T>A
NM_004082.5(DCTN1):c.433-9C>T
NM_004082.5(DCTN1):c.453+14C>A
NM_004082.5(DCTN1):c.453+15C>T
NM_004082.5(DCTN1):c.454-12C>T
NM_004082.5(DCTN1):c.454-17C>T
NM_004082.5(DCTN1):c.454-7T>C rs1275843862
NM_004082.5(DCTN1):c.495C>T (p.Ser165=)
NM_004082.5(DCTN1):c.519G>A (p.Ala173=) rs376565787
NM_004082.5(DCTN1):c.528T>G (p.Gly176=)
NM_004082.5(DCTN1):c.537C>T (p.Ser179=)
NM_004082.5(DCTN1):c.540C>T (p.Ser180=)
NM_004082.5(DCTN1):c.546G>A (p.Glu182=)
NM_004082.5(DCTN1):c.549C>T (p.Pro183=)
NM_004082.5(DCTN1):c.570G>T (p.Pro190=) rs528908728
NM_004082.5(DCTN1):c.588C>T (p.Ile196=) rs761974691
NM_004082.5(DCTN1):c.606C>G (p.Thr202=)
NM_004082.5(DCTN1):c.627G>A (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.627G>C (p.Pro209=)
NM_004082.5(DCTN1):c.645+11G>T
NM_004082.5(DCTN1):c.645+19G>A
NM_004082.5(DCTN1):c.645+8C>T rs1170361781
NM_004082.5(DCTN1):c.646-20G>A
NM_004082.5(DCTN1):c.646-9C>T rs771722291
NM_004082.5(DCTN1):c.660A>G (p.Leu220=)
NM_004082.5(DCTN1):c.663G>A (p.Arg221=) rs1573164850
NM_004082.5(DCTN1):c.69C>T (p.Ser23=)
NM_004082.5(DCTN1):c.714G>T (p.Arg238=)
NM_004082.5(DCTN1):c.786G>A (p.Lys262=) rs1573164518
NM_004082.5(DCTN1):c.843+13A>G
NM_004082.5(DCTN1):c.843+14T>G
NM_004082.5(DCTN1):c.843+18G>A
NM_004082.5(DCTN1):c.843+19G>A rs556822905
NM_004082.5(DCTN1):c.843+19G>C
NM_004082.5(DCTN1):c.843+19G>T rs556822905
NM_004082.5(DCTN1):c.843+7C>T
NM_004082.5(DCTN1):c.844-17C>T
NM_004082.5(DCTN1):c.852G>A (p.Lys284=)
NM_004082.5(DCTN1):c.858G>A (p.Ala286=) rs151107870
NM_004082.5(DCTN1):c.879T>C (p.Tyr293=)
NM_004082.5(DCTN1):c.885G>A (p.Glu295=) rs1219824885
NM_004082.5(DCTN1):c.900T>A (p.Thr300=)
NM_004082.5(DCTN1):c.903T>C (p.Ala301=) rs2103660730
NM_004082.5(DCTN1):c.909C>T (p.Ala303=) rs1206939326
NM_004082.5(DCTN1):c.921C>T (p.Ala307=)
NM_004082.5(DCTN1):c.954T>C (p.Ala318=)
NM_004082.5(DCTN1):c.969G>A (p.Gln323=)
NM_004082.5(DCTN1):c.990G>A (p.Glu330=) rs2103660210
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) rs200952455
NM_004738.5(VAPB):c.*5479C>T rs554455751
NM_004738.5(VAPB):c.-150C>G rs572151788
NM_004738.5(VAPB):c.111C>T (p.Asp37=) rs781691837
NM_004738.5(VAPB):c.117T>C (p.Asn39=) rs748583918
NM_004738.5(VAPB):c.189A>C (p.Ala63=) rs2123058915
NM_004738.5(VAPB):c.195C>A (p.Ala65=) rs1555813003
NM_004738.5(VAPB):c.207A>G (p.Val69=)
NM_004738.5(VAPB):c.211+11A>T
NM_004738.5(VAPB):c.21C>G (p.Val7=) rs763066492
NM_004738.5(VAPB):c.246G>A (p.Glu82=)
NM_004738.5(VAPB):c.24G>A (p.Leu8=)
NM_004738.5(VAPB):c.252T>C (p.Ser84=) rs2123088934
NM_004738.5(VAPB):c.309A>G (p.Glu103=)
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.315+14G>A
NM_004738.5(VAPB):c.315+14G>T
NM_004738.5(VAPB):c.315+15C>A rs2123089093
NM_004738.5(VAPB):c.316-17A>T rs201335617
NM_004738.5(VAPB):c.375G>A (p.Leu125=) rs2123096724
NM_004738.5(VAPB):c.378A>G (p.Pro126=) rs981564507
NM_004738.5(VAPB):c.384G>A (p.Glu128=)
NM_004738.5(VAPB):c.396+16G>A
NM_004738.5(VAPB):c.396+21_396+23del
NM_004738.5(VAPB):c.396+9A>G
NM_004738.5(VAPB):c.397-12G>T
NM_004738.5(VAPB):c.397-17C>T
NM_004738.5(VAPB):c.402T>C (p.Asp134=)
NM_004738.5(VAPB):c.438A>G (p.Ser146=)
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004738.5(VAPB):c.547C>T (p.Leu183=)
NM_004738.5(VAPB):c.564G>A (p.Lys188=) rs1252962552
NM_004738.5(VAPB):c.573+16C>A
NM_004738.5(VAPB):c.574-15C>T
NM_004738.5(VAPB):c.574-7C>T
NM_004738.5(VAPB):c.58+10A>G
NM_004738.5(VAPB):c.58+18C>T
NM_004738.5(VAPB):c.58+8C>G
NM_004738.5(VAPB):c.59-11T>C
NM_004738.5(VAPB):c.59-11_59-10del
NM_004738.5(VAPB):c.59-16_59-15del
NM_004738.5(VAPB):c.63C>G (p.Pro21=)
NM_004738.5(VAPB):c.69C>T (p.Thr23=)
NM_004738.5(VAPB):c.78C>T (p.Val26=) rs2123058654
NM_004738.5(VAPB):c.99C>T (p.Gly33=)
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.3(FUS):c.521_523+3dup6
NM_004960.4(FUS):c.*132C>A rs565540429
NM_004960.4(FUS):c.1014G>A (p.Thr338=)
NM_004960.4(FUS):c.1014G>T (p.Thr338=) rs374933969
NM_004960.4(FUS):c.1066+14G>A
NM_004960.4(FUS):c.1067-15T>A
NM_004960.4(FUS):c.1067-16T>C
NM_004960.4(FUS):c.1067-17del
NM_004960.4(FUS):c.1086T>C (p.Asn362=)
NM_004960.4(FUS):c.1125T>C (p.Phe375=)
NM_004960.4(FUS):c.1168+16C>T
NM_004960.4(FUS):c.1169-7G>A rs763718245
NM_004960.4(FUS):c.119G>C (p.Gly40Ala)
NM_004960.4(FUS):c.1292+20T>A
NM_004960.4(FUS):c.1293-13C>T
NM_004960.4(FUS):c.135G>T (p.Thr45=)
NM_004960.4(FUS):c.1377A>C (p.Pro459=)
NM_004960.4(FUS):c.1393+17T>C
NM_004960.4(FUS):c.1393+20T>G
NM_004960.4(FUS):c.1394-12C>T
NM_004960.4(FUS):c.1394-13del
NM_004960.4(FUS):c.1394-19C>A
NM_004960.4(FUS):c.1395G>T (p.Gly465=)
NM_004960.4(FUS):c.14-9C>G
NM_004960.4(FUS):c.1404C>T (p.Tyr468=) rs562029185
NM_004960.4(FUS):c.1446C>T (p.Gly482=) rs112061837
NM_004960.4(FUS):c.1506C>T (p.Asp502=)
NM_004960.4(FUS):c.1541+12A>C
NM_004960.4(FUS):c.1541+9_1541+10del rs761850706
NM_004960.4(FUS):c.190+16C>T
NM_004960.4(FUS):c.191-8C>T
NM_004960.4(FUS):c.231G>A (p.Ser77=) rs746093073
NM_004960.4(FUS):c.234T>C (p.Thr78=)
NM_004960.4(FUS):c.267G>A (p.Ser89=)
NM_004960.4(FUS):c.285C>G (p.Ser95=)
NM_004960.4(FUS):c.335+8G>C
NM_004960.4(FUS):c.336-19T>G
NM_004960.4(FUS):c.336-20T>G
NM_004960.4(FUS):c.336-4C>G
NM_004960.4(FUS):c.38+19C>T
NM_004960.4(FUS):c.39-11C>G rs1449243081
NM_004960.4(FUS):c.414A>G (p.Gly138=)
NM_004960.4(FUS):c.432A>T (p.Gly144=)
NM_004960.4(FUS):c.453C>T (p.Pro151=)
NM_004960.4(FUS):c.523+21_523+24del
NM_004960.4(FUS):c.524-13del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_004960.4(FUS):c.52C>A (p.Pro18Thr) rs144888138
NM_004960.4(FUS):c.576C>T (p.Gly192=)
NM_004960.4(FUS):c.579T>G (p.Gly193=)
NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[5] (p.Gly231del) rs72550890
NM_004960.4(FUS):c.672C>T (p.Gly224=)
NM_004960.4(FUS):c.678C>T (p.Gly226=)
NM_004960.4(FUS):c.681C>T (p.Gly227=)
NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del) rs767564995
NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del) rs778398729
NM_004960.4(FUS):c.685GGT[2] (p.Gly231del)
NM_004960.4(FUS):c.705C>T (p.Ser235=)
NM_004960.4(FUS):c.726A>G (p.Arg242=) rs2144114862
NM_004960.4(FUS):c.744T>A (p.Arg248=) rs1596898427
NM_004960.4(FUS):c.759C>T (p.Gly253=)
NM_004960.4(FUS):c.764+9C>G
NM_004960.4(FUS):c.799+13_799+14del
NM_004960.4(FUS):c.810C>T (p.Asp270=) rs1238867683
NM_004960.4(FUS):c.832+13G>A
NM_004960.4(FUS):c.833-10C>G
NM_004960.4(FUS):c.849C>T (p.Asp283=)
NM_004960.4(FUS):c.906T>C (p.Ala302=)
NM_004960.4(FUS):c.936+12G>A
NM_004960.4(FUS):c.936+21dup rs764726122
NM_004960.4(FUS):c.936+7G>A
NM_004960.4(FUS):c.937-10C>T rs199705472
NM_004960.4(FUS):c.96C>T (p.Pro32=) rs932534102
NM_005022.4(PFN1):c.351A>T (p.Glu117Asp)
NM_005866.4(SIGMAR1):c.151+16G>A
NM_005866.4(SIGMAR1):c.151+16G>C
NM_005866.4(SIGMAR1):c.151+19G>A
NM_005866.4(SIGMAR1):c.152-16C>T
NM_005866.4(SIGMAR1):c.152-4C>A rs1678098962
NM_005866.4(SIGMAR1):c.153G>T (p.Gly51=)
NM_005866.4(SIGMAR1):c.171C>T (p.Ala57=)
NM_005866.4(SIGMAR1):c.177T>G (p.Ser59=) rs1365967267
NM_005866.4(SIGMAR1):c.198G>C (p.Arg66=)
NM_005866.4(SIGMAR1):c.202C>T (p.Leu68=) rs2132329481
NM_005866.4(SIGMAR1):c.207C>T (p.His69=)
NM_005866.4(SIGMAR1):c.237G>T (p.Leu79=) rs555351774
NM_005866.4(SIGMAR1):c.255T>C (p.Asn85=)
NM_005866.4(SIGMAR1):c.261T>A (p.Gly87=)
NM_005866.4(SIGMAR1):c.291C>T (p.His97=)
NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=)
NM_005866.4(SIGMAR1):c.300G>A (p.Leu100=) rs1554707982
NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=)
NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=) rs1482584320
NM_005866.4(SIGMAR1):c.348C>T (p.His116=) rs978371056
NM_005866.4(SIGMAR1):c.352+10A>G rs2132328730
NM_005866.4(SIGMAR1):c.352+12C>T
NM_005866.4(SIGMAR1):c.352+16G>C
NM_005866.4(SIGMAR1):c.353-9G>C
NM_005866.4(SIGMAR1):c.369G>A (p.Glu123=) rs2132328286
NM_005866.4(SIGMAR1):c.372C>T (p.Ile124=) rs749047578
NM_005866.4(SIGMAR1):c.375G>T (p.Ser125=) rs2132328246
NM_005866.4(SIGMAR1):c.39G>C (p.Ala13=) rs2132330807
NM_005866.4(SIGMAR1):c.445+14C>T
NM_005866.4(SIGMAR1):c.445+17T>A
NM_005866.4(SIGMAR1):c.446-10T>C rs2132324834
NM_005866.4(SIGMAR1):c.446-16G>A
NM_005866.4(SIGMAR1):c.446-5C>G rs1564095230
NM_005866.4(SIGMAR1):c.446-7C>G
NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=) rs2132330785
NM_005866.4(SIGMAR1):c.462C>T (p.His154=)
NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=)
NM_005866.4(SIGMAR1):c.543C>T (p.Thr181=) rs1820831056
NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=)
NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=)
NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=)
NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=)
NM_005866.4(SIGMAR1):c.627C>A (p.Gly209=) rs746866850
NM_005866.4(SIGMAR1):c.63G>A (p.Val21=)
NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=)
NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=)
NM_007126.5(VCP):c.1017A>G (p.Ala339=) rs565534943
NM_007126.5(VCP):c.1050C>G (p.Pro350=)
NM_007126.5(VCP):c.1081+15T>C
NM_007126.5(VCP):c.1081+17C>A
NM_007126.5(VCP):c.1081+8C>A rs763106348
NM_007126.5(VCP):c.1081+9T>C rs773115735
NM_007126.5(VCP):c.1082-8_1082-7insTGTTTGTGTAT
NM_007126.5(VCP):c.1095G>A (p.Arg365=)
NM_007126.5(VCP):c.1107T>C (p.Ile369=)
NM_007126.5(VCP):c.1137G>A (p.Glu379=)
NM_007126.5(VCP):c.1179T>C (p.Asp393=)
NM_007126.5(VCP):c.1182G>A (p.Val394=) rs1828721841
NM_007126.5(VCP):c.1191A>G (p.Glu397=) rs1587122637
NM_007126.5(VCP):c.1194+12A>G
NM_007126.5(VCP):c.1194+8G>A
NM_007126.5(VCP):c.1194+9A>G
NM_007126.5(VCP):c.1194+9ATG[2] rs886038581
NM_007126.5(VCP):c.1195-12C>G
NM_007126.5(VCP):c.1287C>T (p.Leu429=)
NM_007126.5(VCP):c.129+11G>C rs941014724
NM_007126.5(VCP):c.129+12C>T rs1469170170
NM_007126.5(VCP):c.1299G>A (p.Glu433=)
NM_007126.5(VCP):c.130-20C>T
NM_007126.5(VCP):c.130-6C>T
NM_007126.5(VCP):c.1329C>T (p.Asn443=) rs748816624
NM_007126.5(VCP):c.1332T>C (p.Ser444=) rs2131031228
NM_007126.5(VCP):c.1333C>T (p.Leu445=)
NM_007126.5(VCP):c.1338A>G (p.Ala446=)
NM_007126.5(VCP):c.1341T>C (p.Val447=)
NM_007126.5(VCP):c.1359+11C>T
NM_007126.5(VCP):c.1359+16G>A
NM_007126.5(VCP):c.1359+17T>A
NM_007126.5(VCP):c.1359+8C>T
NM_007126.5(VCP):c.1360-5T>C rs772756435
NM_007126.5(VCP):c.1360-9C>T rs770599017
NM_007126.5(VCP):c.1383A>G (p.Pro461=)
NM_007126.5(VCP):c.1416A>G (p.Pro472=)
NM_007126.5(VCP):c.1467A>G (p.Leu489=)
NM_007126.5(VCP):c.1476G>A (p.Leu492=) rs759475496
NM_007126.5(VCP):c.1479C>G (p.Val493=)
NM_007126.5(VCP):c.1482+10C>T
NM_007126.5(VCP):c.1483-14C>T rs776057031
NM_007126.5(VCP):c.1488T>C (p.Pro496=) rs1563976866
NM_007126.5(VCP):c.1569G>T (p.Gly523=)
NM_007126.5(VCP):c.1587A>G (p.Lys529=)
NM_007126.5(VCP):c.15C>T (p.Ala5=) rs1253022077
NM_007126.5(VCP):c.1617C>T (p.Phe539=) rs2131030379
NM_007126.5(VCP):c.1623C>T (p.Ser541=)
NM_007126.5(VCP):c.1680A>G (p.Arg560=)
NM_007126.5(VCP):c.168A>C (p.Thr56=) rs1373925196
NM_007126.5(VCP):c.168A>G (p.Thr56=)
NM_007126.5(VCP):c.1695+18G>A
NM_007126.5(VCP):c.1696-11_1696-10insA
NM_007126.5(VCP):c.1696-15C>G rs1048514063
NM_007126.5(VCP):c.1696-5dup rs2131029583
NM_007126.5(VCP):c.1696-7C>T rs1554668202
NM_007126.5(VCP):c.17+8_17+9del
NM_007126.5(VCP):c.1722A>G (p.Leu574=)
NM_007126.5(VCP):c.1731T>C (p.Asp577=)
NM_007126.5(VCP):c.1743G>A (p.Ser581=)
NM_007126.5(VCP):c.1743G>T (p.Ser581=)
NM_007126.5(VCP):c.18-6T>A rs1587130773
NM_007126.5(VCP):c.18-6T>C
NM_007126.5(VCP):c.18-8C>T
NM_007126.5(VCP):c.18-9_18-8del
NM_007126.5(VCP):c.1818A>G (p.Thr606=)
NM_007126.5(VCP):c.1839A>C (p.Thr613=) rs77203288
NM_007126.5(VCP):c.1842A>G (p.Lys614=)
NM_007126.5(VCP):c.1847dup (p.Asn616fs) rs751290466
NM_007126.5(VCP):c.1854C>T (p.Phe618=)
NM_007126.5(VCP):c.1884C>T (p.Ile628=)
NM_007126.5(VCP):c.1896C>A (p.Ala632=) rs141275388
NM_007126.5(VCP):c.1896C>G (p.Ala632=)
NM_007126.5(VCP):c.192A>G (p.Arg64=) rs1828866649
NM_007126.5(VCP):c.1944T>C (p.Pro648=) rs1828679866
NM_007126.5(VCP):c.1950G>A (p.Glu650=) rs752382520
NM_007126.5(VCP):c.2005-14G>A
NM_007126.5(VCP):c.2005-20A>G
NM_007126.5(VCP):c.2005-6T>C
NM_007126.5(VCP):c.2005-9T>C
NM_007126.5(VCP):c.207C>T (p.Cys69=)
NM_007126.5(VCP):c.2151A>G (p.Pro717=)
NM_007126.5(VCP):c.2160+14C>A rs1480730816
NM_007126.5(VCP):c.2161-20T>A
NM_007126.5(VCP):c.2161-5T>C rs2131026711
NM_007126.5(VCP):c.2175T>C (p.Asp725=) rs2131026686
NM_007126.5(VCP):c.2197C>A (p.Arg733=) rs2131026649
NM_007126.5(VCP):c.2205C>T (p.His735=)
NM_007126.5(VCP):c.2223C>T (p.Arg741=) rs775316749
NM_007126.5(VCP):c.2244T>C (p.Ser748=)
NM_007126.5(VCP):c.2298G>A (p.Arg766=)
NM_007126.5(VCP):c.2315+10T>C
NM_007126.5(VCP):c.2316-11C>G
NM_007126.5(VCP):c.2316-5C>T
NM_007126.5(VCP):c.2334G>A (p.Gln778=)
NM_007126.5(VCP):c.2343T>C (p.Ala781=)
NM_007126.5(VCP):c.234T>C (p.Ser78=) rs1202208932
NM_007126.5(VCP):c.2367C>T (p.Gly789=)
NM_007126.5(VCP):c.2370C>T (p.Gly790=)
NM_007126.5(VCP):c.2373A>G (p.Thr791=)
NM_007126.5(VCP):c.2385A>G (p.Val795=)
NM_007126.5(VCP):c.2391A>G (p.Thr797=)
NM_007126.5(VCP):c.2420A>G (p.Ter807=)
NM_007126.5(VCP):c.255T>C (p.Asn85=)
NM_007126.5(VCP):c.258A>G (p.Arg86=) rs1563980979
NM_007126.5(VCP):c.288A>G (p.Leu96=)
NM_007126.5(VCP):c.291G>A (p.Gly97=)
NM_007126.5(VCP):c.302+11G>C
NM_007126.5(VCP):c.302+2TG[3] rs748148701
NM_007126.5(VCP):c.302+8T>G
NM_007126.5(VCP):c.303-21_303-19del rs571628729
NM_007126.5(VCP):c.303-4T>G
NM_007126.5(VCP):c.303-5C>T
NM_007126.5(VCP):c.318T>C (p.Pro106=)
NM_007126.5(VCP):c.34C>T (p.Leu12=)
NM_007126.5(VCP):c.366A>G (p.Thr122=) rs1397108432
NM_007126.5(VCP):c.372A>G (p.Glu124=) rs1587128887
NM_007126.5(VCP):c.375C>T (p.Gly125=)
NM_007126.5(VCP):c.390C>G (p.Leu130=) rs1587128848
NM_007126.5(VCP):c.393C>T (p.Phe131=)
NM_007126.5(VCP):c.399A>G (p.Val133=)
NM_007126.5(VCP):c.411G>A (p.Pro137=)
NM_007126.5(VCP):c.411G>C (p.Pro137=)
NM_007126.5(VCP):c.446-11T>C rs746343398
NM_007126.5(VCP):c.446-19G>T
NM_007126.5(VCP):c.446-4G>T
NM_007126.5(VCP):c.446-7C>G
NM_007126.5(VCP):c.446-7C>T rs757560700
NM_007126.5(VCP):c.45C>T (p.Ala15=) rs2131041103
NM_007126.5(VCP):c.522C>T (p.Cys174=)
NM_007126.5(VCP):c.531T>A (p.Ala177=) rs1032568811
NM_007126.5(VCP):c.555A>G (p.Glu185=)
NM_007126.5(VCP):c.571C>A (p.Arg191=)
NM_007126.5(VCP):c.576+10C>G rs757728490
NM_007126.5(VCP):c.576+10C>T
NM_007126.5(VCP):c.576+14_576+15del
NM_007126.5(VCP):c.577-15C>G rs1587126066
NM_007126.5(VCP):c.577-15C>T rs1587126066
NM_007126.5(VCP):c.577-21_577-18del rs763622603
NM_007126.5(VCP):c.606G>A (p.Gly202=)
NM_007126.5(VCP):c.627C>T (p.Cys209=)
NM_007126.5(VCP):c.663A>G (p.Glu221=)
NM_007126.5(VCP):c.664C>T (p.Leu222=) rs2131035159
NM_007126.5(VCP):c.666G>A (p.Leu222=)
NM_007126.5(VCP):c.670C>T (p.Leu224=) rs1828782859
NM_007126.5(VCP):c.672G>C (p.Leu224=)
NM_007126.5(VCP):c.684C>T (p.Ala228=)
NM_007126.5(VCP):c.708+12G>C
NM_007126.5(VCP):c.708+16T>G
NM_007126.5(VCP):c.708+20G>A
NM_007126.5(VCP):c.709-18C>G
NM_007126.5(VCP):c.709-19_709-18del
NM_007126.5(VCP):c.709-4A>G rs1587124649
NM_007126.5(VCP):c.726G>A (p.Leu242=)
NM_007126.5(VCP):c.729T>G (p.Leu243=)
NM_007126.5(VCP):c.735A>G (p.Gly245=)
NM_007126.5(VCP):c.738T>A (p.Pro246=) rs560145873
NM_007126.5(VCP):c.756C>T (p.Thr252=)
NM_007126.5(VCP):c.759G>C (p.Leu253=)
NM_007126.5(VCP):c.792C>T (p.Ala264=) rs1828756572
NM_007126.5(VCP):c.807C>T (p.Ile269=)
NM_007126.5(VCP):c.811+13G>C
NM_007126.5(VCP):c.811+13G>T
NM_007126.5(VCP):c.811+14T>C
NM_007126.5(VCP):c.811+17A>G
NM_007126.5(VCP):c.811+19C>T
NM_007126.5(VCP):c.811+8A>G
NM_007126.5(VCP):c.811+9T>C
NM_007126.5(VCP):c.812-17A>G
NM_007126.5(VCP):c.812-19C>G
NM_007126.5(VCP):c.812-9T>C
NM_007126.5(VCP):c.840T>C (p.Gly280=)
NM_007126.5(VCP):c.894T>A (p.Pro298=)
NM_007126.5(VCP):c.945+11A>C
NM_007126.5(VCP):c.945+16A>C
NM_007126.5(VCP):c.946-12del rs2131032564
NM_007126.5(VCP):c.946-15A>T rs2131032568
NM_007126.5(VCP):c.946-17A>G
NM_007126.5(VCP):c.946-17dup rs2131032583
NM_007126.5(VCP):c.946-20C>T
NM_007126.5(VCP):c.946-8T>A rs1563977996
NM_007126.5(VCP):c.951T>C (p.His317=)
NM_007126.5(VCP):c.982T>C (p.Leu328=) rs1025521461
NM_007126.5(VCP):c.9T>C (p.Ser3=)
NM_007375.4(TARDBP):c.111G>A (p.Gly37=) rs1553158651
NM_007375.4(TARDBP):c.114G>A (p.Ala38=)
NM_007375.4(TARDBP):c.1173A>G (p.Ala391=)
NM_007375.4(TARDBP):c.1179G>A (p.Ser393=)
NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)
NM_007375.4(TARDBP):c.189C>T (p.Ala63=) rs1399738284
NM_007375.4(TARDBP):c.238+16G>T
NM_007375.4(TARDBP):c.239-12C>T
NM_007375.4(TARDBP):c.273A>G (p.Ser91=)
NM_007375.4(TARDBP):c.312C>T (p.Ser104=)
NM_007375.4(TARDBP):c.360G>A (p.Leu120=)
NM_007375.4(TARDBP):c.403-14A>G
NM_007375.4(TARDBP):c.465T>C (p.Tyr155=)
NM_007375.4(TARDBP):c.495A>G (p.Arg165=)
NM_007375.4(TARDBP):c.543+15G>A rs749471636
NM_007375.4(TARDBP):c.543+16C>G
NM_007375.4(TARDBP):c.543+20G>T
NM_007375.4(TARDBP):c.544-15T>C
NM_007375.4(TARDBP):c.544-6G>C rs2100852266
NM_007375.4(TARDBP):c.609T>G (p.Thr203=)
NM_007375.4(TARDBP):c.636T>G (p.Ser212=)
NM_007375.4(TARDBP):c.642C>T (p.Tyr214=)
NM_007375.4(TARDBP):c.699A>G (p.Thr233=) rs745343269
NM_007375.4(TARDBP):c.714+18G>A
NM_007375.4(TARDBP):c.715-11A>G
NM_007375.4(TARDBP):c.715-18A>G
NM_007375.4(TARDBP):c.774C>G (p.Ser258=)
NM_007375.4(TARDBP):c.780C>T (p.Ala260=)
NM_007375.4(TARDBP):c.909A>G (p.Gln303=)
NM_007375.4(TARDBP):c.930G>A (p.Gly310=)
NM_007375.4(TARDBP):c.939T>C (p.Phe313=)
NM_007375.4(TARDBP):c.990A>G (p.Leu330=)
NM_013254.3(TBK1):c.1644-5_1644-2del rs755646937
NM_013254.4(TBK1):c.1089T>C (p.Pro363=)
NM_013254.4(TBK1):c.1151G>A (p.Arg384Gln)
NM_013254.4(TBK1):c.1206A>G (p.Val402=)
NM_013254.4(TBK1):c.1248+18T>A
NM_013254.4(TBK1):c.1260G>C (p.Gly420=)
NM_013254.4(TBK1):c.1323G>A (p.Lys441=)
NM_013254.4(TBK1):c.1338G>T (p.Leu446=)
NM_013254.4(TBK1):c.1442+17C>T
NM_013254.4(TBK1):c.1442+18T>G
NM_013254.4(TBK1):c.1443-15T>C
NM_013254.4(TBK1):c.1443-6A>G rs1033675488
NM_013254.4(TBK1):c.1539A>C (p.Gly513=)
NM_013254.4(TBK1):c.153T>C (p.Val51=)
NM_013254.4(TBK1):c.1551C>T (p.Thr517=) rs1460627390
NM_013254.4(TBK1):c.1566C>T (p.Ile522=) rs375618295
NM_013254.4(TBK1):c.1602C>T (p.Asp534=)
NM_013254.4(TBK1):c.1643+19C>T
NM_013254.4(TBK1):c.1643+20G>A
NM_013254.4(TBK1):c.1656A>G (p.Leu552=)
NM_013254.4(TBK1):c.1720+16T>A
NM_013254.4(TBK1):c.1770G>A (p.Leu590=) rs753990284
NM_013254.4(TBK1):c.1785A>G (p.Thr595=)
NM_013254.4(TBK1):c.1862+13_1862+15del
NM_013254.4(TBK1):c.1862+7A>C rs2040933572
NM_013254.4(TBK1):c.1917T>C (p.Asp639=)
NM_013254.4(TBK1):c.1959+13G>A
NM_013254.4(TBK1):c.1959+17A>C
NM_013254.4(TBK1):c.1960-20_1960-19insC
NM_013254.4(TBK1):c.1960-7G>T rs768189768
NM_013254.4(TBK1):c.198T>C (p.Asn66=)
NM_013254.4(TBK1):c.2043C>T (p.Asn681=) rs759638468
NM_013254.4(TBK1):c.204C>G (p.Val68=)
NM_013254.4(TBK1):c.2066+11C>G
NM_013254.4(TBK1):c.2138+12A>C
NM_013254.4(TBK1):c.2139-5_2139-3dup
NM_013254.4(TBK1):c.2139-7G>A rs534404556
NM_013254.4(TBK1):c.2139-9G>A
NM_013254.4(TBK1):c.228+19A>G
NM_013254.4(TBK1):c.229-14_229-13insC
NM_013254.4(TBK1):c.229-9_229-8insG rs2136060930
NM_013254.4(TBK1):c.270A>C (p.Pro90=)
NM_013254.4(TBK1):c.312C>T (p.Ala104=)
NM_013254.4(TBK1):c.330T>C (p.Ser110=) rs1592356440
NM_013254.4(TBK1):c.358+17A>G
NM_013254.4(TBK1):c.358+4T>C
NM_013254.4(TBK1):c.358+9_358+12del rs769662604
NM_013254.4(TBK1):c.402T>C (p.Arg134=)
NM_013254.4(TBK1):c.541-18T>C
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013254.4(TBK1):c.541-9dup rs369498196
NM_013254.4(TBK1):c.639T>C (p.His213=)
NM_013254.4(TBK1):c.701+16A>T rs2136069949
NM_013254.4(TBK1):c.729T>G (p.Ser243=)
NM_013254.4(TBK1):c.744A>C (p.Gly248=)
NM_013254.4(TBK1):c.780T>C (p.Ser260=)
NM_013254.4(TBK1):c.813-7A>C rs376075252
NM_013254.4(TBK1):c.816T>G (p.Gly272=)
NM_013254.4(TBK1):c.828A>G (p.Leu276=)
NM_013254.4(TBK1):c.87+17C>T
NM_013254.4(TBK1):c.88-4A>G
NM_013444.4(UBQLN2):c.1001C>T (p.Thr334Met)
NM_013444.4(UBQLN2):c.1011C>T (p.Ser337=) rs972652102
NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=)
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)
NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser)
NM_013444.4(UBQLN2):c.138C>T (p.Phe46=)
NM_013444.4(UBQLN2):c.1407A>T (p.Ala469=)
NM_013444.4(UBQLN2):c.1416G>C (p.Leu472=)
NM_013444.4(UBQLN2):c.1422G>A (p.Pro474=)
NM_013444.4(UBQLN2):c.150G>A (p.Glu50=)
NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=)
NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=)
NM_013444.4(UBQLN2):c.159G>T (p.Ser53=)
NM_013444.4(UBQLN2):c.165G>A (p.Gln55=)
NM_013444.4(UBQLN2):c.1698C>T (p.Ala566=)
NM_013444.4(UBQLN2):c.1707A>T (p.Gly569=)
NM_013444.4(UBQLN2):c.1719A>G (p.Pro573=)
NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=)
NM_013444.4(UBQLN2):c.1852C>T (p.Leu618=) rs1602589986
NM_013444.4(UBQLN2):c.186G>A (p.Ser62=)
NM_013444.4(UBQLN2):c.1872G>A (p.Ser624=)
NM_013444.4(UBQLN2):c.195C>T (p.Phe65=)
NM_013444.4(UBQLN2):c.399C>T (p.Ser133=)
NM_013444.4(UBQLN2):c.462T>C (p.Leu154=)
NM_013444.4(UBQLN2):c.900C>T (p.Ser300=) rs1451386394
NM_013444.4(UBQLN2):c.915G>C (p.Thr305=) rs1474772730
NM_013444.4(UBQLN2):c.969G>A (p.Pro323=)
NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)
NM_014043.4(CHMP2B):c.127-7C>T
NM_014043.4(CHMP2B):c.180T>G (p.Val60=)
NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)
NM_014043.4(CHMP2B):c.234A>C (p.Val78=) rs765641845
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=) rs778796624
NM_014043.4(CHMP2B):c.321+10A>C
NM_014043.4(CHMP2B):c.34+14C>G
NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)
NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)
NM_014043.4(CHMP2B):c.424+19_424+21del rs2106913116
NM_014043.4(CHMP2B):c.424+20A>C
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=) rs767746876
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=) rs1285764025
NM_014043.4(CHMP2B):c.531+14C>A
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014043.4(CHMP2B):c.532-14A>G
NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.1010+14A>C
NM_015046.7(SETX):c.1010+4_1010+7dup rs1222378139
NM_015046.7(SETX):c.1026G>A (p.Pro342=)
NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)
NM_015046.7(SETX):c.1099-13del
NM_015046.7(SETX):c.1099-17C>T
NM_015046.7(SETX):c.1260T>C (p.Asp420=) rs2131462924
NM_015046.7(SETX):c.1338A>G (p.Gln446=)
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala) rs370363342
NM_015046.7(SETX):c.135T>A (p.Ala45=)
NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)
NM_015046.7(SETX):c.1392A>T (p.Ser464=)
NM_015046.7(SETX):c.1423T>C (p.Leu475=)
NM_015046.7(SETX):c.1443T>C (p.Ser481=)
NM_015046.7(SETX):c.1536C>T (p.Ser512=) rs2131460559
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)
NM_015046.7(SETX):c.1590T>C (p.Ser530=)
NM_015046.7(SETX):c.159A>G (p.Glu53=) rs2131575185
NM_015046.7(SETX):c.160T>C (p.Leu54=)
NM_015046.7(SETX):c.1617T>A (p.Ile539=)
NM_015046.7(SETX):c.162G>A (p.Leu54=) rs1175429740
NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)
NM_015046.7(SETX):c.1668G>A (p.Lys556=) rs1328865930
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly) rs770280073
NM_015046.7(SETX):c.174T>C (p.His58=) rs1470975448
NM_015046.7(SETX):c.178-19C>T
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr) rs768673354
NM_015046.7(SETX):c.197C>T (p.Thr66Ile)
NM_015046.7(SETX):c.1986C>T (p.Asn662=) rs1307680734
NM_015046.7(SETX):c.199T>C (p.Leu67=) rs2131558600
NM_015046.7(SETX):c.2037A>G (p.Leu679=) rs1432462823
NM_015046.7(SETX):c.207C>G (p.Leu69=)
NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)
NM_015046.7(SETX):c.2133G>A (p.Lys711=) rs746772505
NM_015046.7(SETX):c.2154C>A (p.Ile718=)
NM_015046.7(SETX):c.2160A>C (p.Ser720=)
NM_015046.7(SETX):c.2190T>C (p.Asn730=)
NM_015046.7(SETX):c.2232A>C (p.Thr744=) rs749481788
NM_015046.7(SETX):c.2316T>C (p.Leu772=)
NM_015046.7(SETX):c.2380G>A (p.Val794Ile)
NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)
NM_015046.7(SETX):c.24G>A (p.Thr8=)
NM_015046.7(SETX):c.2646C>T (p.Asn882=)
NM_015046.7(SETX):c.2668C>T (p.His890Tyr)
NM_015046.7(SETX):c.267A>C (p.Ile89=)
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)
NM_015046.7(SETX):c.273C>T (p.Asp91=)
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser) rs778882347
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
NM_015046.7(SETX):c.2895A>G (p.Leu965=)
NM_015046.7(SETX):c.2902C>T (p.Leu968=)
NM_015046.7(SETX):c.2925G>C (p.Thr975=)
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.2964A>G (p.Gln988=)
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)
NM_015046.7(SETX):c.3018A>T (p.Gly1006=)
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)
NM_015046.7(SETX):c.34G>T (p.Ala12Ser)
NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
NM_015046.7(SETX):c.3651G>A (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3699C>T (p.Ile1233=)
NM_015046.7(SETX):c.3732A>G (p.Lys1244=)
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
NM_015046.7(SETX):c.388+19C>G
NM_015046.7(SETX):c.388+19C>T
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
NM_015046.7(SETX):c.389-20A>C rs1848060275
NM_015046.7(SETX):c.389-7T>C
NM_015046.7(SETX):c.389-8_389-6del
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)
NM_015046.7(SETX):c.3966C>T (p.Thr1322=)
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)
NM_015046.7(SETX):c.407C>T (p.Ala136Val)
NM_015046.7(SETX):c.4210G>A (p.Val1404Ile)
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)
NM_015046.7(SETX):c.4516A>G (p.Met1506Val)
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)
NM_015046.7(SETX):c.459T>C (p.His153=) rs774939461
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.474G>A (p.Leu158=)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4961A>G (p.Asn1654Ser)
NM_015046.7(SETX):c.4978C>T (p.His1660Tyr)
NM_015046.7(SETX):c.498+10A>G
NM_015046.7(SETX):c.498+8dup
NM_015046.7(SETX):c.499-13_499-8dup
NM_015046.7(SETX):c.499-18_499-15del
NM_015046.7(SETX):c.499-8G>T
NM_015046.7(SETX):c.502C>T (p.Arg168Trp)
NM_015046.7(SETX):c.5097C>T (p.Asp1699=) rs1163054039
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)
NM_015046.7(SETX):c.5160G>T (p.Gly1720=) rs763408913
NM_015046.7(SETX):c.5196T>C (p.Pro1732=)
NM_015046.7(SETX):c.5199G>A (p.Val1733=)
NM_015046.7(SETX):c.528A>G (p.Arg176=)
NM_015046.7(SETX):c.5374+20A>G
NM_015046.7(SETX):c.5375-20G>T
NM_015046.7(SETX):c.5375-9G>A
NM_015046.7(SETX):c.5375-9G>C rs1239409311
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
NM_015046.7(SETX):c.5505A>G (p.Glu1835=) rs2131305953
NM_015046.7(SETX):c.5538C>G (p.Arg1846=)
NM_015046.7(SETX):c.5549-5G>A
NM_015046.7(SETX):c.5549-6T>C
NM_015046.7(SETX):c.5604G>A (p.Pro1868=) rs373607369
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)
NM_015046.7(SETX):c.5637A>T (p.Val1879=) rs2131295454
NM_015046.7(SETX):c.567A>G (p.Leu189=)
NM_015046.7(SETX):c.5781+7G>A
NM_015046.7(SETX):c.5835A>G (p.Ala1945=) rs1298267771
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
NM_015046.7(SETX):c.5949+13G>A
NM_015046.7(SETX):c.5949+13G>T rs2131289221
NM_015046.7(SETX):c.5950-11G>A
NM_015046.7(SETX):c.5950-20G>A
NM_015046.7(SETX):c.5950-4G>A
NM_015046.7(SETX):c.5950-5T>C
NM_015046.7(SETX):c.5964G>A (p.Gly1988=) rs775658101
NM_015046.7(SETX):c.5994C>T (p.Ile1998=)
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_015046.7(SETX):c.6106+8dup
NM_015046.7(SETX):c.6107-19C>T
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)
NM_015046.7(SETX):c.6159T>C (p.Asn2053=) rs2131248104
NM_015046.7(SETX):c.6208+17G>T
NM_015046.7(SETX):c.6209-18_6209-15del
NM_015046.7(SETX):c.6209-7_6209-6insG rs2131246566
NM_015046.7(SETX):c.6282T>C (p.Leu2094=)
NM_015046.7(SETX):c.62A>G (p.Tyr21Cys)
NM_015046.7(SETX):c.6300A>G (p.Leu2100=)
NM_015046.7(SETX):c.6384T>A (p.Ser2128=) rs2131234628
NM_015046.7(SETX):c.6390T>C (p.Ile2130=) rs2131234539
NM_015046.7(SETX):c.6397-17A>C
NM_015046.7(SETX):c.6397-20T>C
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
NM_015046.7(SETX):c.6516T>G (p.Gly2172=)
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)
NM_015046.7(SETX):c.6547-11A>G
NM_015046.7(SETX):c.6547-15del
NM_015046.7(SETX):c.6610C>T (p.Leu2204=) rs2131200445
NM_015046.7(SETX):c.6654+9_6654+11del
NM_015046.7(SETX):c.6685A>G (p.Met2229Val)
NM_015046.7(SETX):c.6756A>G (p.Leu2252=)
NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)
NM_015046.7(SETX):c.6842+15T>A
NM_015046.7(SETX):c.6842+19T>C
NM_015046.7(SETX):c.6843-4A>T rs1466427179
NM_015046.7(SETX):c.6849A>G (p.Thr2283=)
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) rs1323126988
NM_015046.7(SETX):c.6936-8T>A
NM_015046.7(SETX):c.7041T>C (p.His2347=)
NM_015046.7(SETX):c.7059G>A (p.Thr2353=)
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
NM_015046.7(SETX):c.708C>T (p.Ser236=)
NM_015046.7(SETX):c.7100+19T>C
NM_015046.7(SETX):c.7131C>T (p.Phe2377=)
NM_015046.7(SETX):c.7146G>A (p.Lys2382=) rs2131148463
NM_015046.7(SETX):c.7164G>A (p.Thr2388=) rs368602563
NM_015046.7(SETX):c.718+11T>A
NM_015046.7(SETX):c.718+13C>T
NM_015046.7(SETX):c.718+16A>C rs769647958
NM_015046.7(SETX):c.718+18A>C rs773630853
NM_015046.7(SETX):c.719-17T>G rs140720865
NM_015046.7(SETX):c.719-17dup
NM_015046.7(SETX):c.719-18C>T
NM_015046.7(SETX):c.7199+14_7199+16del
NM_015046.7(SETX):c.7199+17G>T rs768161524
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)
NM_015046.7(SETX):c.7281C>G (p.Thr2427=) rs1482971726
NM_015046.7(SETX):c.7288-14C>T
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
NM_015046.7(SETX):c.742C>T (p.Leu248Phe) rs748358261
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)
NM_015046.7(SETX):c.7458C>G (p.Pro2486=) rs2131114205
NM_015046.7(SETX):c.7494A>C (p.Gly2498=) rs1404779640
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
NM_015046.7(SETX):c.75T>G (p.Thr25=) rs1589791526
NM_015046.7(SETX):c.763T>A (p.Ser255Thr)
NM_015046.7(SETX):c.7680C>A (p.Pro2560=)
NM_015046.7(SETX):c.7713T>C (p.Pro2571=) rs2131112226
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7764G>A (p.Gln2588=)
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7881G>A (p.Glu2627=)
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
NM_015046.7(SETX):c.792T>C (p.Asn264=)
NM_015046.7(SETX):c.7941T>C (p.Gly2647=) rs1471003365
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
NM_015046.7(SETX):c.838+10T>G rs2131491563
NM_015046.7(SETX):c.839-14C>T
NM_015046.7(SETX):c.839-20A>G
NM_015046.7(SETX):c.879T>C (p.Phe293=)
NM_015046.7(SETX):c.912C>T (p.Val304=) rs1473756878
NM_015046.7(SETX):c.951C>T (p.Thr317=) rs1025452911
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
NM_018834.6(MATR3):c.1010A>G (p.His337Arg) rs553687055
NM_018834.6(MATR3):c.1016+13T>C
NM_018834.6(MATR3):c.1017-16G>A rs2151984888
NM_018834.6(MATR3):c.1017-4C>T rs1035772952
NM_018834.6(MATR3):c.1017-4dup
NM_018834.6(MATR3):c.102G>A (p.Gln34=) rs747469006
NM_018834.6(MATR3):c.1129+7A>G rs1477606021
NM_018834.6(MATR3):c.1130-14C>G
NM_018834.6(MATR3):c.1130-18C>A rs1755284160
NM_018834.6(MATR3):c.1182+11A>G rs774114454
NM_018834.6(MATR3):c.1182+17T>G
NM_018834.6(MATR3):c.1183-4A>T
NM_018834.6(MATR3):c.1183-5del
NM_018834.6(MATR3):c.1245A>G (p.Leu415=)
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
NM_018834.6(MATR3):c.1263A>G (p.Pro421=) rs1581248568
NM_018834.6(MATR3):c.1284T>C (p.His428=)
NM_018834.6(MATR3):c.1308+18G>A
NM_018834.6(MATR3):c.1308+24_1308+26del
NM_018834.6(MATR3):c.1309-10A>G
NM_018834.6(MATR3):c.1332A>G (p.Thr444=)
NM_018834.6(MATR3):c.1383A>G (p.Val461=)
NM_018834.6(MATR3):c.1398G>A (p.Val466=)
NM_018834.6(MATR3):c.1413C>A (p.Ser471=)
NM_018834.6(MATR3):c.1434+10del rs2151995486
NM_018834.6(MATR3):c.1435-17G>A rs1291025838
NM_018834.6(MATR3):c.153C>T (p.Arg51=)
NM_018834.6(MATR3):c.1596A>G (p.Lys532=)
NM_018834.6(MATR3):c.1602+10A>G
NM_018834.6(MATR3):c.1602+9C>T
NM_018834.6(MATR3):c.1603-11T>C
NM_018834.6(MATR3):c.1603-11T>G
NM_018834.6(MATR3):c.1603-13_1603-12del
NM_018834.6(MATR3):c.1603-17T>G
NM_018834.6(MATR3):c.1603-18C>G
NM_018834.6(MATR3):c.1603-18C>T
NM_018834.6(MATR3):c.1603-19T>C
NM_018834.6(MATR3):c.1603-7T>C rs1161987811
NM_018834.6(MATR3):c.1603-7_1603-4del
NM_018834.6(MATR3):c.1603-9_1603-6del
NM_018834.6(MATR3):c.1603-9_1603-8del rs1581255414
NM_018834.6(MATR3):c.1629A>G (p.Glu543=)
NM_018834.6(MATR3):c.165A>G (p.Leu55=)
NM_018834.6(MATR3):c.1668C>T (p.Ala556=)
NM_018834.6(MATR3):c.1689T>C (p.Cys563=) rs201037038
NM_018834.6(MATR3):c.1716T>C (p.Tyr572=)
NM_018834.6(MATR3):c.1734+10A>G
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1734+19G>A
NM_018834.6(MATR3):c.1734+7A>G
NM_018834.6(MATR3):c.1735-18A>C rs781510247
NM_018834.6(MATR3):c.1735-19C>G
NM_018834.6(MATR3):c.1778+17T>C rs776365113
NM_018834.6(MATR3):c.1779-19T>G
NM_018834.6(MATR3):c.1803C>G (p.Gly601=) rs746452114
NM_018834.6(MATR3):c.1812T>A (p.Ser604=)
NM_018834.6(MATR3):c.1839T>C (p.Asp613=)
NM_018834.6(MATR3):c.1854T>A (p.Thr618=)
NM_018834.6(MATR3):c.1899A>G (p.Glu633=)
NM_018834.6(MATR3):c.18G>A (p.Gln6=)
NM_018834.6(MATR3):c.1908G>A (p.Glu636=)
NM_018834.6(MATR3):c.190T>C (p.Leu64=) rs775134951
NM_018834.6(MATR3):c.1914C>T (p.Asp638=) rs369312174
NM_018834.6(MATR3):c.1920G>A (p.Lys640=)
NM_018834.6(MATR3):c.1972C>T (p.Leu658=) rs745805004
NM_018834.6(MATR3):c.2016C>G (p.Gly672=)
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2046T>A (p.Ala682=)
NM_018834.6(MATR3):c.2076A>G (p.Lys692=)
NM_018834.6(MATR3):c.2148+14C>G
NM_018834.6(MATR3):c.2148+17T>A
NM_018834.6(MATR3):c.2148+8_2148+11del rs745750214
NM_018834.6(MATR3):c.2148+9A>G
NM_018834.6(MATR3):c.2149-8A>G
NM_018834.6(MATR3):c.2160C>T (p.Ile720=)
NM_018834.6(MATR3):c.2187A>G (p.Ala729=)
NM_018834.6(MATR3):c.2190G>A (p.Ala730=)
NM_018834.6(MATR3):c.2199T>C (p.Asn733=)
NM_018834.6(MATR3):c.2220C>T (p.Asn740=) rs1204915381
NM_018834.6(MATR3):c.2223A>G (p.Thr741=)
NM_018834.6(MATR3):c.2232T>G (p.Gly744=) rs1581261752
NM_018834.6(MATR3):c.2235T>C (p.Ala745=)
NM_018834.6(MATR3):c.2301T>C (p.Asp767=) rs748749843
NM_018834.6(MATR3):c.2313C>T (p.Asp771=)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.2331T>C (p.Asp777=)
NM_018834.6(MATR3):c.2371+10A>G
NM_018834.6(MATR3):c.2371+13T>G rs2152022664
NM_018834.6(MATR3):c.2372-4C>T
NM_018834.6(MATR3):c.2424C>G (p.Leu808=) rs2152024327
NM_018834.6(MATR3):c.2448A>G (p.Ala816=)
NM_018834.6(MATR3):c.2493+12T>A
NM_018834.6(MATR3):c.2493+19C>T rs2152024488
NM_018834.6(MATR3):c.2494-8_2494-5del
NM_018834.6(MATR3):c.2494-9T>C
NM_018834.6(MATR3):c.306T>C (p.Arg102=) rs1397245799
NM_018834.6(MATR3):c.306T>G (p.Arg102=)
NM_018834.6(MATR3):c.334T>C (p.Leu112=)
NM_018834.6(MATR3):c.420A>G (p.Gln140=)
NM_018834.6(MATR3):c.429A>G (p.Leu143=)
NM_018834.6(MATR3):c.439A>C (p.Arg147=)
NM_018834.6(MATR3):c.459C>G (p.Gly153=)
NM_018834.6(MATR3):c.462T>C (p.Pro154=)
NM_018834.6(MATR3):c.474T>C (p.Tyr158=)
NM_018834.6(MATR3):c.504G>A (p.Glu168=)
NM_018834.6(MATR3):c.63G>C (p.Leu21=)
NM_018834.6(MATR3):c.663T>C (p.Asp221=) rs2151961303
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_018834.6(MATR3):c.747G>A (p.Glu249=)
NM_018834.6(MATR3):c.795C>T (p.Leu265=) rs1354833142
NM_018834.6(MATR3):c.813C>T (p.Gly271=) rs1754806535
NM_018834.6(MATR3):c.81C>G (p.Gly27=)
NM_018834.6(MATR3):c.870C>T (p.Pro290=)
NM_018834.6(MATR3):c.897A>C (p.Pro299=)
NM_018834.6(MATR3):c.90T>C (p.Ala30=)
NM_018834.6(MATR3):c.912+11_912+15del
NM_018834.6(MATR3):c.924A>G (p.Gln308=)
NM_018834.6(MATR3):c.93T>G (p.Ala31=)
NM_018834.6(MATR3):c.966T>C (p.Leu322=)
NM_018834.6(MATR3):c.974+20T>C
NM_020919.4(ALS2):c.2170+19T>C rs2106050526
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.257+17A>G rs201878138
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.2621-15dup rs577083743
NM_025137.4(SPG11):c.6586-7T>C rs1057524222
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_031157.4(HNRNPA1):c.491-3dup rs202119045
NM_213720.3(CHCHD10):c.129G>A (p.Gly43=)
NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys)
NM_213720.3(CHCHD10):c.159A>G (p.Ala53=)
NM_213720.3(CHCHD10):c.162G>T (p.Gly54=)
NM_213720.3(CHCHD10):c.168C>G (p.Ala56=) rs13053635
NM_213720.3(CHCHD10):c.207G>A (p.Leu69=)
NM_213720.3(CHCHD10):c.21C>T (p.Ser7=) rs984321947
NM_213720.3(CHCHD10):c.228G>T (p.Gly76=)
NM_213720.3(CHCHD10):c.231C>T (p.Ser77=)
NM_213720.3(CHCHD10):c.234G>C (p.Ser78=)
NM_213720.3(CHCHD10):c.24G>A (p.Ala8=) rs1926992574
NM_213720.3(CHCHD10):c.261+10G>C
NM_213720.3(CHCHD10):c.261+17A>G rs754940184
NM_213720.3(CHCHD10):c.261+7A>G rs2145926622
NM_213720.3(CHCHD10):c.262-14C>T rs1419450340
NM_213720.3(CHCHD10):c.262-18C>T
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)
NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)
NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)
NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)
NM_213720.3(CHCHD10):c.409+11G>C
NM_213720.3(CHCHD10):c.409+15C>G
NM_213720.3(CHCHD10):c.409+17C>T
NM_213720.3(CHCHD10):c.409+18G>A
NM_213720.3(CHCHD10):c.41+17G>A
NM_213720.3(CHCHD10):c.410-13C>T
NM_213720.3(CHCHD10):c.410-15C>G
NM_213720.3(CHCHD10):c.410-8del rs759453467
NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)
NM_213720.3(CHCHD10):c.42-10A>G
NM_213720.3(CHCHD10):c.42-15C>T
NM_213720.3(CHCHD10):c.42-18T>C
NM_213720.3(CHCHD10):c.42-4G>T
NM_213720.3(CHCHD10):c.42-5C>G rs868345557
NM_213720.3(CHCHD10):c.42-5C>T rs868345557
NM_213720.3(CHCHD10):c.42-5del rs1926955562
NM_213720.3(CHCHD10):c.42-9C>T
NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)
NM_213720.3(CHCHD10):c.54G>A (p.Ala18=) rs1344583612
NM_213720.3(CHCHD10):c.57C>T (p.Pro19=) rs1381948310
NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)
NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)
NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)
NM_213720.3(CHCHD10):c.9G>A (p.Arg3=) rs1165025561

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