ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2177
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
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_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_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) rs370872556 0.00115
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00094
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.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_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) rs145958900 0.00070
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
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_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_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
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_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
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_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_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
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_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.597G>A (p.Pro199=) rs143607419 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 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_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_015046.7(SETX):c.6208+17G>A rs182144319 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_003900.5(SQSTM1):c.674-17C>T rs372845160 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_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.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_004082.5(DCTN1):c.570G>A (p.Pro190=) rs528908728 0.00016
NM_004738.5(VAPB):c.574-4G>A rs201798741 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_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_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_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.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_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_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_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.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_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_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.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_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.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.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_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.768G>T (p.Leu256=) rs759468738 0.00006
NM_018834.6(MATR3):c.1129+9A>G rs372039740 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_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_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.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_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.7809C>T (p.Pro2603=) rs766063614 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 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_213720.3(CHCHD10):c.262-4C>T rs1021130344 0.00004
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.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.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_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_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.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_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.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.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.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_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.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 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_004960.4(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.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.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.99C>T (p.Ala33=) rs762914576 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.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_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
NC_000005.9:g.(?_70219768)_70249839dup
NC_000005.9:g.(?_70247739)_(70247821_?)dup
NC_000005.9:g.(?_70247758)_(70247828_?)dup
NM_000344.4(SMN1):c.462A>G (p.Gln154=) rs4915
NM_000344.4(SMN1):c.835-4dup rs1554082376
NM_000344.4(SMN1):c.841A>C (p.Arg281=) rs1482083567
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.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.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_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.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.521_523+3dupGAGGTG
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.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_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.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_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.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.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.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.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.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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.