ClinVar Miner

List of variants reported as likely benign for behavioral variant of frontotemporal dementia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1534
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_018834.6(MATR3):c.-56G>A rs59033177 0.01187
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951 0.00755
NM_001008212.2(OPTN):c.*562T>G rs148646641 0.00706
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_007126.5(VCP):c.*1001C>T rs192556285 0.00482
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_004960.3(FUS):c.*1992A>C rs146490489 0.00325
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_004738.5(VAPB):c.*3118C>T rs56310716 0.00306
NM_004738.5(VAPB):c.*467G>A rs141496875 0.00301
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_004960.3(FUS):c.*1998T>C rs182437252 0.00272
NM_004738.5(VAPB):c.*375C>G rs540854828 0.00247
NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr) rs114635790 0.00217
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
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_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_004738.5(VAPB):c.*3566A>T rs114038495 0.00142
NM_014043.4(CHMP2B):c.*899T>A rs186472338 0.00142
NM_004738.5(VAPB):c.*5790G>A rs192046748 0.00126
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_004738.5(VAPB):c.*3274C>T rs553170533 0.00122
NM_004738.5(VAPB):c.*6578T>G rs115932469 0.00121
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile) rs116733906 0.00116
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00094
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_007126.5(VCP):c.*12C>T rs62544156 0.00088
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_004738.5(VAPB):c.*3725T>C rs574293455 0.00083
NM_004738.5(VAPB):c.*726A>G rs560832981 0.00083
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_001377265.1(MAPT):c.50C>T (p.Thr17Met) rs144611688 0.00080
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) rs145958900 0.00070
NM_001377265.1(MAPT):c.120C>T (p.Asp40=) rs191362093 0.00067
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_004738.5(VAPB):c.-137C>T rs542349554 0.00062
NM_004738.5(VAPB):c.*1347A>G rs192710529 0.00059
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_007375.3(TARDBP):c.-110C>T rs577981181 0.00053
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_000454.5(SOD1):c.357+9T>C rs17886692 0.00051
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala) rs184147813 0.00051
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly) rs139894940 0.00048
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_004082.5(DCTN1):c.2334A>C (p.Thr778=) rs144256653 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_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_002937.5(RNASE4):c.-18+11A>C rs184963428 0.00033
NM_004960.4(FUS):c.47C>T (p.Ala16Val) rs139980267 0.00032
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_020814.3(MARCHF4):c.39G>C (p.Trp13Cys) rs145386484 0.00032
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.597G>A (p.Pro199=) rs143607419 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_018834.6(MATR3):c.2494-6T>A rs376395410 0.00029
NM_004082.5(DCTN1):c.558G>A (p.Pro186=) rs201078804 0.00028
NM_000454.5(SOD1):c.195T>C (p.Phe65=) rs147620646 0.00026
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_004738.5(VAPB):c.*3805G>C rs561048421 0.00025
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=) rs63750811 0.00024
NM_007126.5(VCP):c.924C>T (p.Ala308=) rs199504528 0.00024
NM_004738.5(VAPB):c.*3764C>T rs376626781 0.00023
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 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_000306.4(POU1F1):c.666-6C>T rs201995103 0.00019
NM_001377265.1(MAPT):c.1998+15C>T rs749726538 0.00019
NM_001377265.1(MAPT):c.273T>C (p.Gly91=) rs141556635 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_001377265.1(MAPT):c.1854G>A (p.Val618=) rs114900761 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_000021.4(PSEN1):c.711T>C (p.Phe237=) rs750352441 0.00016
NM_004082.5(DCTN1):c.570G>A (p.Pro190=) rs528908728 0.00016
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004960.3(FUS):c.*1286C>G rs547623704 0.00016
NM_007126.5(VCP):c.210C>T (p.Ile70=) rs151222857 0.00016
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 0.00016
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala) rs200373970 0.00015
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys) rs200114679 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_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_018834.6(MATR3):c.1377G>A (p.Ala459=) rs147356202 0.00014
NM_001377265.1(MAPT):c.2262C>T (p.His754=) rs747658161 0.00013
NM_004082.5(DCTN1):c.2990G>A (p.Arg997Gln) rs200580530 0.00013
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004738.5(VAPB):c.*5851C>A rs772661395 0.00013
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 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_001008212.2(OPTN):c.779+10A>G rs200899194 0.00011
NM_001377265.1(MAPT):c.2349G>A (p.Glu783=) rs142776675 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_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_004082.5(DCTN1):c.3212-10G>A rs201516838 0.00010
NM_004082.5(DCTN1):c.3543G>A (p.Pro1181=) rs745853966 0.00010
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) rs368273709 0.00010
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_018834.6(MATR3):c.265A>G (p.Ile89Val) rs528548235 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000454.5(SOD1):c.-26A>G rs571199057 0.00009
NM_001008212.2(OPTN):c.883-17G>T rs561692004 0.00009
NM_001377265.1(MAPT):c.1137C>T (p.His379=) rs142283842 0.00009
NM_001377265.1(MAPT):c.1623G>A (p.Thr541=) rs139748238 0.00009
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
NM_004082.5(DCTN1):c.1266C>T (p.Thr422=) rs368742342 0.00009
NM_004082.5(DCTN1):c.1447C>T (p.Leu483=) rs145369076 0.00009
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352 0.00009
NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) rs780851496 0.00009
NM_004960.4(FUS):c.222A>G (p.Gly74=) rs757454595 0.00009
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626 0.00009
NM_007126.5(VCP):c.340A>G (p.Ile114Val) rs549915384 0.00009
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_007375.4(TARDBP):c.975C>T (p.Ala325=) rs777072801 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_018834.6(MATR3):c.1116A>G (p.Pro372=) rs375938101 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344 0.00008
NM_000021.4(PSEN1):c.480+17G>A rs375376095 0.00008
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
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_018834.6(MATR3):c.1435-14_1435-11del rs754942776 0.00008
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=) rs148501218 0.00007
NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=) rs202237523 0.00007
NM_004082.5(DCTN1):c.394-16C>G rs371506967 0.00007
NM_004738.5(VAPB):c.496G>A (p.Val166Ile) rs538630783 0.00007
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln) rs188471297 0.00007
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=) rs199632597 0.00006
NM_000021.4(PSEN1):c.909G>A (p.Pro303=) rs377053325 0.00006
NM_000454.5(SOD1):c.73-4A>G rs374242306 0.00006
NM_001008212.2(OPTN):c.1401+21C>G rs553828705 0.00006
NM_001377265.1(MAPT):c.220+2480G>A rs368318765 0.00006
NM_004082.5(DCTN1):c.1393-6T>C rs72466491 0.00006
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) rs199751168 0.00006
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val) rs758387062 0.00006
NM_004082.5(DCTN1):c.3132G>C (p.Thr1044=) rs375157202 0.00006
NM_004082.5(DCTN1):c.336T>G (p.Ser112=) rs371005095 0.00006
NM_004082.5(DCTN1):c.3699+12C>T rs372930172 0.00006
NM_004082.5(DCTN1):c.394-10C>A rs541163314 0.00006
NM_004082.5(DCTN1):c.420G>A (p.Pro140=) rs375040197 0.00006
NM_004738.5(VAPB):c.*4265G>A rs780267648 0.00006
NM_004738.5(VAPB):c.651A>G (p.Glu217=) rs767437818 0.00006
NM_004960.4(FUS):c.1461C>T (p.Arg487=) rs755870176 0.00006
NM_007126.5(VCP):c.1017A>T (p.Ala339=) rs565534943 0.00006
NM_007126.5(VCP):c.129+16A>T rs369006103 0.00006
NM_007126.5(VCP):c.2316-4A>G rs755625059 0.00006
NM_007126.5(VCP):c.552C>T (p.Cys184=) rs769455914 0.00006
NM_007126.5(VCP):c.732C>T (p.Tyr244=) rs201610567 0.00006
NM_007375.4(TARDBP):c.1101C>T (p.Phe367=) rs377531374 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=) rs376846232 0.00006
NM_014043.4(CHMP2B):c.424+10A>G rs375906390 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_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_001377265.1(MAPT):c.2451C>T (p.Leu817=) rs200637464 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_018834.6(MATR3):c.1866C>T (p.Thr622=) rs539542619 0.00005
NM_000021.4(PSEN1):c.459G>T (p.Leu153=) rs753457678 0.00004
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_001377265.1(MAPT):c.1453C>T (p.Leu485Phe) rs199759929 0.00004
NM_001377265.1(MAPT):c.1638G>A (p.Pro546=) rs201046056 0.00004
NM_001377265.1(MAPT):c.1733-12C>T rs373115116 0.00004
NM_001377265.1(MAPT):c.177G>A (p.Pro59=) rs370131551 0.00004
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=) rs115142761 0.00004
NM_001377265.1(MAPT):c.220+2450A>G rs773274633 0.00004
NM_001377265.1(MAPT):c.2319C>T (p.Asn773=) rs746312281 0.00004
NM_001377265.1(MAPT):c.42C>T (p.His14=) rs759306195 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_007126.5(VCP):c.*15C>T rs762559031 0.00004
NM_007126.5(VCP):c.1359+15C>T rs765387767 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_007126.5(VCP):c.446-16C>T rs747667635 0.00004
NM_007126.5(VCP):c.446-17A>G rs543629555 0.00004
NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=) rs147795017 0.00004
NM_007375.4(TARDBP):c.330T>G (p.Gly110=) rs199804130 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 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_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_001377265.1(MAPT):c.1377C>T (p.Asp459=) rs371173110 0.00003
NM_001377265.1(MAPT):c.1707C>T (p.Pro569=) rs750910229 0.00003
NM_001377265.1(MAPT):c.1767C>T (p.Tyr589=) rs750316359 0.00003
NM_001377265.1(MAPT):c.2034C>T (p.Asn678=) rs779043983 0.00003
NM_004082.5(DCTN1):c.1482G>A (p.Ala494=) rs372546194 0.00003
NM_004082.5(DCTN1):c.2253+20G>A rs1446016270 0.00003
NM_004082.5(DCTN1):c.2397G>A (p.Lys799=) rs145150561 0.00003
NM_004082.5(DCTN1):c.2761-13G>A rs531275207 0.00003
NM_004082.5(DCTN1):c.2823G>A (p.Leu941=) rs550195526 0.00003
NM_004082.5(DCTN1):c.3444G>A (p.Leu1148=) rs139241420 0.00003
NM_004082.5(DCTN1):c.3529+11G>C rs772782095 0.00003
NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn) rs184429549 0.00003
NM_004082.5(DCTN1):c.645+10G>A rs776017204 0.00003
NM_004738.5(VAPB):c.163A>C (p.Arg55=) rs150761013 0.00003
NM_004738.5(VAPB):c.574-14G>A rs754865953 0.00003
NM_004738.5(VAPB):c.618C>T (p.Ser206=) rs747208140 0.00003
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 0.00003
NM_004960.4(FUS):c.300T>C (p.Tyr100=) rs376424892 0.00003
NM_004960.4(FUS):c.335+19C>T rs773898038 0.00003
NM_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_014043.4(CHMP2B):c.219G>A (p.Thr73=) rs754433917 0.00003
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=) rs778796624 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_000021.4(PSEN1):c.1311C>T (p.Ile437=) rs201453174 0.00002
NM_000021.4(PSEN1):c.501T>C (p.Ile167=) rs199637432 0.00002
NM_000021.4(PSEN1):c.813G>T (p.Leu271=) rs757698754 0.00002
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.1428T>C (p.His476=) rs767738080 0.00002
NM_001008212.2(OPTN):c.480C>T (p.Ile160=) rs146593599 0.00002
NM_001008212.2(OPTN):c.513C>T (p.Ser171=) rs369760173 0.00002
NM_001008212.2(OPTN):c.718C>T (p.Leu240=) rs372486382 0.00002
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_001377265.1(MAPT):c.1632C>A (p.Ala544=) rs757701420 0.00002
NM_001377265.1(MAPT):c.1866T>C (p.Arg622=) rs778876874 0.00002
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=) rs145897970 0.00002
NM_001377265.1(MAPT):c.2346G>A (p.Ala782=) rs771974951 0.00002
NM_001377265.1(MAPT):c.2418C>T (p.Thr806=) rs749816245 0.00002
NM_001377265.1(MAPT):c.36A>G (p.Glu12=) rs375852870 0.00002
NM_001377265.1(MAPT):c.969A>C (p.Thr323=) rs781607136 0.00002
NM_004082.5(DCTN1):c.1288-10C>T rs72659375 0.00002
NM_004082.5(DCTN1):c.1398G>A (p.Ala466=) rs371253917 0.00002
NM_004082.5(DCTN1):c.1926G>A (p.Leu642=) rs758298791 0.00002
NM_004082.5(DCTN1):c.1947A>G (p.Gln649=) rs756173900 0.00002
NM_004082.5(DCTN1):c.21C>T (p.His7=) rs373040626 0.00002
NM_004082.5(DCTN1):c.2373C>T (p.Cys791=) rs759688608 0.00002
NM_004082.5(DCTN1):c.246T>C (p.Asp82=) rs1323483918 0.00002
NM_004082.5(DCTN1):c.2544T>C (p.Ala848=) rs1371265373 0.00002
NM_004082.5(DCTN1):c.2736T>C (p.Tyr912=) rs72659381 0.00002
NM_004082.5(DCTN1):c.280-19A>G rs747687955 0.00002
NM_004082.5(DCTN1):c.2814T>C (p.Ala938=) rs1475285679 0.00002
NM_004082.5(DCTN1):c.2925C>T (p.Leu975=) rs1185611985 0.00002
NM_004082.5(DCTN1):c.3030-11C>G rs770969863 0.00002
NM_004082.5(DCTN1):c.33+9C>T rs775298728 0.00002
NM_004082.5(DCTN1):c.359-4A>G rs754070367 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_004082.5(DCTN1):c.36G>A (p.Thr12=) rs1394864492 0.00002
NM_004082.5(DCTN1):c.3726A>G (p.Thr1242=) rs377745224 0.00002
NM_004738.5(VAPB):c.*2885G>C rs578172184 0.00002
NM_004738.5(VAPB):c.211+19G>A rs1225492890 0.00002
NM_004738.5(VAPB):c.397-16A>G rs767598860 0.00002
NM_004738.5(VAPB):c.465G>A (p.Lys155=) rs779988555 0.00002
NM_004960.4(FUS):c.1452C>T (p.Tyr484=) rs372721739 0.00002
NM_004960.4(FUS):c.648C>T (p.Arg216=) rs556586630 0.00002
NM_004960.4(FUS):c.90T>C (p.Ser30=) rs1485377976 0.00002
NM_007126.5(VCP):c.120C>T (p.Ser40=) rs775760970 0.00002
NM_007126.5(VCP):c.1494G>A (p.Glu498=) rs775006879 0.00002
NM_007126.5(VCP):c.1569G>A (p.Gly523=) rs748378458 0.00002
NM_007126.5(VCP):c.1863C>T (p.Gly621=) rs376510669 0.00002
NM_007126.5(VCP):c.2109C>T (p.Ile703=) rs543689812 0.00002
NM_007126.5(VCP):c.2161-4A>G rs1260699314 0.00002
NM_007126.5(VCP):c.2161-6C>T rs199513619 0.00002
NM_007126.5(VCP):c.2315+8G>C rs561343814 0.00002
NM_007126.5(VCP):c.330C>T (p.Tyr110=) rs1259531489 0.00002
NM_007126.5(VCP):c.345T>C (p.His115=) rs775348132 0.00002
NM_007126.5(VCP):c.446-5C>T rs541980846 0.00002
NM_007126.5(VCP):c.577-10C>T rs778331428 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_007375.4(TARDBP):c.1056T>C (p.Asn352=) rs561479675 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile) rs201549050 0.00002
NM_013444.4(UBQLN2):c.1455G>A (p.Leu485=) rs1214760842 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_000021.4(PSEN1):c.161G>A (p.Arg54Gln) rs201216284 0.00001
NM_000021.4(PSEN1):c.264T>C (p.Pro88=) rs201113902 0.00001
NM_000021.4(PSEN1):c.339A>G (p.Leu113=) rs1382127121 0.00001
NM_000021.4(PSEN1):c.798T>A (p.Gly266=) rs752833058 0.00001
NM_000021.4(PSEN1):c.801A>G (p.Pro267=) rs758814165 0.00001
NM_000021.4(PSEN1):c.956-20A>C rs763638380 0.00001
NM_000454.5(SOD1):c.159T>C (p.Asp53=) rs1276917683 0.00001
NM_000454.5(SOD1):c.216C>T (p.His72=) rs368042695 0.00001
NM_000454.5(SOD1):c.240-16G>A rs779802862 0.00001
NM_000454.5(SOD1):c.27G>A (p.Leu9=) rs772764888 0.00001
NM_000454.5(SOD1):c.72+13A>G rs754347852 0.00001
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=) rs181131178 0.00001
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=) rs760304751 0.00001
NM_001008212.2(OPTN):c.1612+9C>T rs763985749 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 0.00001
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
NM_001377265.1(MAPT):c.1023C>G (p.Pro341=) rs1382449748 0.00001
NM_001377265.1(MAPT):c.1356C>A (p.Arg452=) rs776028517 0.00001
NM_001377265.1(MAPT):c.1407+18C>T rs957054703 0.00001
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys) rs986393575 0.00001
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=) rs201057449 0.00001
NM_001377265.1(MAPT):c.18G>A (p.Gln6=) rs769584478 0.00001
NM_001377265.1(MAPT):c.1956C>T (p.Ile652=) rs753776994 0.00001
NM_001377265.1(MAPT):c.2173+9G>C rs979650971 0.00001
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 0.00001
NM_001377265.1(MAPT):c.2313C>T (p.Arg771=) rs373462041 0.00001
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=) rs377720312 0.00001
NM_001377265.1(MAPT):c.261C>T (p.Asp87=) rs768654750 0.00001
NM_001377265.1(MAPT):c.973G>A (p.Ala325Thr) rs770014302 0.00001
NM_004082.5(DCTN1):c.1002G>A (p.Glu334=) rs757723673 0.00001
NM_004082.5(DCTN1):c.102G>A (p.Glu34=) rs1207116898 0.00001
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=) rs771325809 0.00001
NM_004082.5(DCTN1):c.1155G>A (p.Lys385=) rs763048243 0.00001
NM_004082.5(DCTN1):c.1288-18A>G rs770601874 0.00001
NM_004082.5(DCTN1):c.1420C>T (p.Leu474=) rs139100051 0.00001
NM_004082.5(DCTN1):c.1479C>T (p.Gly493=) rs754282487 0.00001
NM_004082.5(DCTN1):c.1527G>A (p.Thr509=) rs777762235 0.00001
NM_004082.5(DCTN1):c.153G>A (p.Leu51=) rs765144648 0.00001
NM_004082.5(DCTN1):c.1585-10C>T rs1573159255 0.00001
NM_004082.5(DCTN1):c.1585-5C>G rs762445148 0.00001
NM_004082.5(DCTN1):c.1692C>T (p.Ala564=) rs886043620 0.00001
NM_004082.5(DCTN1):c.1701+15T>G rs375345080 0.00001
NM_004082.5(DCTN1):c.1702-8C>T rs1223678248 0.00001
NM_004082.5(DCTN1):c.1770C>T (p.Ala590=) rs373649455 0.00001
NM_004082.5(DCTN1):c.1977G>A (p.Ser659=) rs750553689 0.00001
NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly) rs774272417 0.00001
NM_004082.5(DCTN1):c.2205T>G (p.Leu735=) rs773099597 0.00001
NM_004082.5(DCTN1):c.2254-10A>G rs954787850 0.00001
NM_004082.5(DCTN1):c.2254-5C>T rs746514094 0.00001
NM_004082.5(DCTN1):c.2269C>T (p.Leu757=) rs778632270 0.00001
NM_004082.5(DCTN1):c.228G>A (p.Arg76=) rs1480799137 0.00001
NM_004082.5(DCTN1):c.2466+16T>G rs892038213 0.00001
NM_004082.5(DCTN1):c.2467-14G>C rs369260205 0.00001
NM_004082.5(DCTN1):c.2467-16C>G rs984523563 0.00001
NM_004082.5(DCTN1):c.2467-6A>G rs150222185 0.00001
NM_004082.5(DCTN1):c.2467-8G>T rs779001284 0.00001
NM_004082.5(DCTN1):c.2478G>A (p.Thr826=) rs1473795697 0.00001
NM_004082.5(DCTN1):c.2499C>T (p.His833=) rs750731203 0.00001
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=) rs767877041 0.00001
NM_004082.5(DCTN1):c.2511C>T (p.Val837=) rs377519506 0.00001
NM_004082.5(DCTN1):c.2523G>T (p.Leu841=) rs199501797 0.00001
NM_004082.5(DCTN1):c.2532G>C (p.Val844=) rs775122005 0.00001
NM_004082.5(DCTN1):c.2640C>T (p.Thr880=) rs1453065894 0.00001
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=) rs1253918840 0.00001
NM_004082.5(DCTN1):c.2760+20G>T rs371973468 0.00001
NM_004082.5(DCTN1):c.2761-5C>T rs749706596 0.00001
NM_004082.5(DCTN1):c.279+10C>T rs1433805841 0.00001
NM_004082.5(DCTN1):c.2938T>C (p.Leu980=) rs370060938 0.00001
NM_004082.5(DCTN1):c.3009A>G (p.Ala1003=) rs781233291 0.00001
NM_004082.5(DCTN1):c.3029+20G>A rs1263362778 0.00001
NM_004082.5(DCTN1):c.3051T>C (p.Asp1017=) rs1573147984 0.00001
NM_004082.5(DCTN1):c.3069C>T (p.Ile1023=) rs780292959 0.00001
NM_004082.5(DCTN1):c.3123C>G (p.Ser1041=) rs769629500 0.00001
NM_004082.5(DCTN1):c.3196+8C>T rs1288930704 0.00001
NM_004082.5(DCTN1):c.3197-13A>G rs374049568 0.00001
NM_004082.5(DCTN1):c.3211+17G>A rs373651754 0.00001
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) rs769145486 0.00001
NM_004082.5(DCTN1):c.3309C>T (p.His1103=) rs756911555 0.00001
NM_004082.5(DCTN1):c.3312C>T (p.Ile1104=) rs777452161 0.00001
NM_004082.5(DCTN1):c.3441G>A (p.Ala1147=) rs760282295 0.00001
NM_004082.5(DCTN1):c.358+12C>T rs759791002 0.00001
NM_004082.5(DCTN1):c.358+15C>T rs753119702 0.00001
NM_004082.5(DCTN1):c.359-10C>T rs568747765 0.00001
NM_004082.5(DCTN1):c.3610-6C>T rs751068198 0.00001
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=) rs1032786897 0.00001
NM_004082.5(DCTN1):c.3660C>G (p.Pro1220=) rs1346257186 0.00001
NM_004082.5(DCTN1):c.3666C>T (p.Asp1222=) rs1573138492 0.00001
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=) rs886056328 0.00001
NM_004082.5(DCTN1):c.384T>C (p.Thr128=) rs751553167 0.00001
NM_004082.5(DCTN1):c.396G>C (p.Arg132=) rs1335450210 0.00001
NM_004082.5(DCTN1):c.426C>T (p.Ala142=) rs766656845 0.00001
NM_004082.5(DCTN1):c.42C>T (p.Ser14=) rs535554555 0.00001
NM_004082.5(DCTN1):c.459G>A (p.Thr153=) rs773422770 0.00001
NM_004082.5(DCTN1):c.585C>T (p.Ile195=) rs1016485773 0.00001
NM_004082.5(DCTN1):c.645+10G>C rs776017204 0.00001
NM_004082.5(DCTN1):c.646-15G>A rs201438504 0.00001
NM_004082.5(DCTN1):c.702G>T (p.Leu234=) rs758500443 0.00001
NM_004082.5(DCTN1):c.759C>T (p.Ile253=) rs1553465355 0.00001
NM_004082.5(DCTN1):c.81G>A (p.Leu27=) rs780626071 0.00001
NM_004082.5(DCTN1):c.843+9C>T rs1031141306 0.00001
NM_004082.5(DCTN1):c.90C>T (p.Gly30=) rs932576887 0.00001
NM_004738.5(VAPB):c.333G>A (p.Pro111=) rs762402998 0.00001
NM_004738.5(VAPB):c.348T>C (p.Asp116=) rs751762415 0.00001
NM_004738.5(VAPB):c.58+13G>A rs1987731552 0.00001
NM_004738.5(VAPB):c.58+9C>T rs1232943562 0.00001
NM_004738.5(VAPB):c.597G>A (p.Arg199=) rs748793394 0.00001
NM_004738.5(VAPB):c.699C>T (p.Ile233=) rs372088559 0.00001
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_004960.4(FUS):c.174T>C (p.Tyr58=) rs780887876 0.00001
NM_004960.4(FUS):c.191-10A>G rs771990569 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.318C>T (p.Pro106=) rs200264709 0.00001
NM_004960.4(FUS):c.375C>G (p.Pro125=) rs368148475 0.00001
NM_004960.4(FUS):c.99C>T (p.Tyr33=) rs371503663 0.00001
NM_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_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_018834.6(MATR3):c.1130-9C>T rs760841083 0.00001
NM_018834.6(MATR3):c.1401A>G (p.Arg467=) rs774463869 0.00001
NM_018834.6(MATR3):c.1404T>C (p.Val468=) rs1429293984 0.00001
NM_018834.6(MATR3):c.1512G>A (p.Pro504=) rs777712375 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1603-9C>A rs188764121 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.1938G>A (p.Gln646=) rs755732018 0.00001
NM_018834.6(MATR3):c.1947T>C (p.Asn649=) rs777432521 0.00001
NM_018834.6(MATR3):c.1953T>C (p.Leu651=) rs770765421 0.00001
NM_018834.6(MATR3):c.2181C>T (p.Asn727=) rs772833565 0.00001
NM_018834.6(MATR3):c.2238A>G (p.Glu746=) rs747456128 0.00001
NM_018834.6(MATR3):c.2265C>T (p.Asn755=) rs1361987333 0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064 0.00001
NM_018834.6(MATR3):c.2460T>C (p.His820=) rs1271177846 0.00001
NM_018834.6(MATR3):c.2538A>G (p.Glu846=) rs747688305 0.00001
NM_018834.6(MATR3):c.507A>G (p.Pro169=) rs1336473659 0.00001
NM_018834.6(MATR3):c.597G>A (p.Val199=) rs1754794221 0.00001
NM_018834.6(MATR3):c.974+7G>A rs1443299870 0.00001
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser) rs376433615
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)
NM_000021.4(PSEN1):c.1130-13del
NM_000021.4(PSEN1):c.177C>A (p.Ser59=)
NM_000021.4(PSEN1):c.177C>T (p.Ser59=) rs201998552
NM_000021.4(PSEN1):c.213G>A (p.Glu71=) rs762907738
NM_000021.4(PSEN1):c.234C>A (p.Gly78=)
NM_000021.4(PSEN1):c.255C>A (p.Leu85=)
NM_000021.4(PSEN1):c.426C>T (p.Val142=)
NM_000021.4(PSEN1):c.435C>T (p.Val145=) rs202090424
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
NM_000021.4(PSEN1):c.480+20C>T
NM_000021.4(PSEN1):c.481-13C>T
NM_000021.4(PSEN1):c.537C>T (p.Phe179=)
NM_000021.4(PSEN1):c.548+13A>G
NM_000021.4(PSEN1):c.549-19C>A rs201724748
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.868+16_868+21del
NM_000021.4(PSEN1):c.87+11_87+14dup
NM_000021.4(PSEN1):c.88-7C>T rs1594997672
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
NM_000021.4(PSEN1):c.955+11T>G
NM_000021.4(PSEN1):c.955+16T>G
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000454.5(SOD1):c.150G>A (p.Glu50=)
NM_000454.5(SOD1):c.15C>T (p.Ala5=)
NM_000454.5(SOD1):c.165A>G (p.Thr55=)
NM_000454.5(SOD1):c.170-11C>T
NM_000454.5(SOD1):c.170-19TTC[2]
NM_000454.5(SOD1):c.239+15A>T
NM_000454.5(SOD1):c.239+17C>G rs2123434677
NM_000454.5(SOD1):c.240-14T>C
NM_000454.5(SOD1):c.240-15C>G
NM_000454.5(SOD1):c.240-6T>A rs2123435321
NM_000454.5(SOD1):c.240-9_240-6del
NM_000454.5(SOD1):c.288C>T (p.Ala96=)
NM_000454.5(SOD1):c.297T>C (p.Ser99=)
NM_000454.5(SOD1):c.318A>T (p.Ser106=)
NM_000454.5(SOD1):c.321C>T (p.Leu107=)
NM_000454.5(SOD1):c.351A>C (p.Thr117=)
NM_000454.5(SOD1):c.358-17_358-15del rs774491046
NM_000454.5(SOD1):c.387A>G (p.Lys129=)
NM_000454.5(SOD1):c.39C>T (p.Gly13=)
NM_000454.5(SOD1):c.408A>G (p.Thr136=)
NM_000454.5(SOD1):c.414A>G (p.Thr138=)
NM_000454.5(SOD1):c.444T>C (p.Gly148=)
NM_000454.5(SOD1):c.450T>C (p.Ile150=)
NM_000454.5(SOD1):c.60T>C (p.Asn20=)
NM_000454.5(SOD1):c.87A>G (p.Pro29=)
NM_000454.5(SOD1):c.96G>A (p.Val32=)
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
NM_001008212.2(OPTN):c.1149-13T>A
NM_001008212.2(OPTN):c.1243-11T>G
NM_001008212.2(OPTN):c.1243-4T>G
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
NM_001008212.2(OPTN):c.1401+9C>T
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
NM_001008212.2(OPTN):c.1532+14A>G
NM_001008212.2(OPTN):c.156C>T (p.His52=)
NM_001008212.2(OPTN):c.1612+17C>A
NM_001008212.2(OPTN):c.1612+17C>T
NM_001008212.2(OPTN):c.1613-13T>C
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=) rs767360238
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=) rs1833710699
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
NM_001008212.2(OPTN):c.261G>A (p.Glu87=) rs749333165
NM_001008212.2(OPTN):c.369+11C>G
NM_001008212.2(OPTN):c.369+11C>T
NM_001008212.2(OPTN):c.369+12G>A
NM_001008212.2(OPTN):c.370-13T>C rs1410187067
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
NM_001008212.2(OPTN):c.435C>T (p.Thr145=) rs1042488570
NM_001008212.2(OPTN):c.490C>T (p.Leu164=)
NM_001008212.2(OPTN):c.552+11G>C rs1015367767
NM_001008212.2(OPTN):c.553-12C>T
NM_001008212.2(OPTN):c.553-17C>T
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
NM_001008212.2(OPTN):c.612A>G (p.Thr204=) rs1588441388
NM_001008212.2(OPTN):c.626+17T>A
NM_001008212.2(OPTN):c.626+18C>T
NM_001008212.2(OPTN):c.627-16C>T
NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
NM_001008212.2(OPTN):c.678C>T (p.Phe226=) rs560438634
NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
NM_001008212.2(OPTN):c.78C>T (p.His26=) rs1588433321
NM_001008212.2(OPTN):c.804A>C (p.Thr268=)
NM_001008212.2(OPTN):c.822T>A (p.Ile274=) rs747912539
NM_001008212.2(OPTN):c.843C>T (p.Ser281=)
NM_001008212.2(OPTN):c.882+19C>T
NM_001008212.2(OPTN):c.882+20G>A
NM_001008212.2(OPTN):c.883-10C>T
NM_001008212.2(OPTN):c.883-6T>C rs1588446686
NM_001008212.2(OPTN):c.924T>G (p.Ser308=)
NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
NM_001008212.2(OPTN):c.998+18A>G rs1833410378
NM_001008212.2(OPTN):c.998+19T>C rs1833410442
NM_001008212.2(OPTN):c.999-16T>C
NM_001008212.2(OPTN):c.999-20G>A
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057
NM_001377265.1(MAPT):c.133+7G>A
NM_001377265.1(MAPT):c.134-20G>C
NM_001377265.1(MAPT):c.1407+10C>T
NM_001377265.1(MAPT):c.1407+11G>A
NM_001377265.1(MAPT):c.153C>A (p.Pro51=)
NM_001377265.1(MAPT):c.1606-18A>G
NM_001377265.1(MAPT):c.1606-19T>C
NM_001377265.1(MAPT):c.1629C>T (p.Ile543=) rs759212591
NM_001377265.1(MAPT):c.1677C>T (p.Asn559=)
NM_001377265.1(MAPT):c.1704G>T (p.Pro568=) rs1052551
NM_001377265.1(MAPT):c.1732+8_1732+10del rs745595533
NM_001377265.1(MAPT):c.1733-14T>C rs2145830502
NM_001377265.1(MAPT):c.1733-5C>T
NM_001377265.1(MAPT):c.1749A>C (p.Ser583=)
NM_001377265.1(MAPT):c.1752G>A (p.Gly584=)
NM_001377265.1(MAPT):c.177G>C (p.Pro59=) rs370131551
NM_001377265.1(MAPT):c.1794C>T (p.Pro598=)
NM_001377265.1(MAPT):c.1815G>A (p.Pro605=)
NM_001377265.1(MAPT):c.1890C>T (p.Ser630=)
NM_001377265.1(MAPT):c.1992C>T (p.Gly664=)
NM_001377265.1(MAPT):c.1995G>C (p.Gly665=)
NM_001377265.1(MAPT):c.1998+19G>A
NM_001377265.1(MAPT):c.1998+20C>T
NM_001377265.1(MAPT):c.1999-6C>A
NM_001377265.1(MAPT):c.2091+17G>A
NM_001377265.1(MAPT):c.2092-18C>A
NM_001377265.1(MAPT):c.216G>A (p.Ala72=)
NM_001377265.1(MAPT):c.220+2477C>A
NM_001377265.1(MAPT):c.2205G>A (p.Lys735=)
NM_001377265.1(MAPT):c.2232G>C (p.Ser744=)
NM_001377265.1(MAPT):c.2268T>C (p.Pro756=)
NM_001377265.1(MAPT):c.2287-12C>T
NM_001377265.1(MAPT):c.2313C>A (p.Arg771=) rs373462041
NM_001377265.1(MAPT):c.2328C>T (p.Ala776=)
NM_001377265.1(MAPT):c.2436A>C (p.Val812=)
NM_001377265.1(MAPT):c.2445C>G (p.Pro815=)
NM_001377265.1(MAPT):c.39T>C (p.Asp13=)
NM_001377265.1(MAPT):c.58T>C (p.Leu20=)
NM_001377265.1(MAPT):c.756C>T (p.Asp252=) rs1358418932
NM_004082.5(DCTN1):c.1008T>C (p.Thr336=)
NM_004082.5(DCTN1):c.1023C>T (p.Ile341=) rs1211302208
NM_004082.5(DCTN1):c.1026C>T (p.Leu342=)
NM_004082.5(DCTN1):c.1048+10C>T rs2103659237
NM_004082.5(DCTN1):c.1048+17T>C
NM_004082.5(DCTN1):c.1048+20T>A rs1674765824
NM_004082.5(DCTN1):c.1048+8G>A rs1335279632
NM_004082.5(DCTN1):c.1049-13_1049-12del
NM_004082.5(DCTN1):c.1062T>C (p.Ala354=)
NM_004082.5(DCTN1):c.1125G>T (p.Val375=)
NM_004082.5(DCTN1):c.1127+14T>C
NM_004082.5(DCTN1):c.1127+16C>T
NM_004082.5(DCTN1):c.1127+8C>G rs2103657565
NM_004082.5(DCTN1):c.1128-10A>G
NM_004082.5(DCTN1):c.1128-13C>G
NM_004082.5(DCTN1):c.1128-13C>T
NM_004082.5(DCTN1):c.1128-15C>G
NM_004082.5(DCTN1):c.1128-16C>T rs2103656711
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=) rs886056332
NM_004082.5(DCTN1):c.1161G>A (p.Glu387=) rs72659373
NM_004082.5(DCTN1):c.1170G>A (p.Lys390=) rs1674741348
NM_004082.5(DCTN1):c.1200A>G (p.Gln400=)
NM_004082.5(DCTN1):c.1227G>C (p.Arg409=) rs2103655320
NM_004082.5(DCTN1):c.1248A>G (p.Leu416=) rs2103655091
NM_004082.5(DCTN1):c.1251C>T (p.Ser417=) rs1553465163
NM_004082.5(DCTN1):c.1284G>A (p.Glu428=)
NM_004082.5(DCTN1):c.1287+12C>T
NM_004082.5(DCTN1):c.1288-12C>T
NM_004082.5(DCTN1):c.1288-19T>C rs2103653681
NM_004082.5(DCTN1):c.1288-20C>T
NM_004082.5(DCTN1):c.1335T>C (p.Asp445=)
NM_004082.5(DCTN1):c.1356G>A (p.Glu452=)
NM_004082.5(DCTN1):c.1392+13C>T rs2103652491
NM_004082.5(DCTN1):c.1392+7G>A
NM_004082.5(DCTN1):c.1392+8_1392+9del rs1573161311
NM_004082.5(DCTN1):c.1393-17_1393-16del
NM_004082.5(DCTN1):c.1393-4C>T
NM_004082.5(DCTN1):c.1393-4del
NM_004082.5(DCTN1):c.1393-7G>A rs886056330
NM_004082.5(DCTN1):c.1393-9_1393-7del rs1452712153
NM_004082.5(DCTN1):c.1398G>C (p.Ala466=)
NM_004082.5(DCTN1):c.1425G>A (p.Gln475=)
NM_004082.5(DCTN1):c.1461G>A (p.Glu487=) rs758555575
NM_004082.5(DCTN1):c.150A>G (p.Thr50=) rs1295226562
NM_004082.5(DCTN1):c.153G>C (p.Leu51=) rs765144648
NM_004082.5(DCTN1):c.1542G>A (p.Gln514=) rs2103646064
NM_004082.5(DCTN1):c.1572C>T (p.Thr524=)
NM_004082.5(DCTN1):c.1581A>G (p.Leu527=)
NM_004082.5(DCTN1):c.1584+12C>T
NM_004082.5(DCTN1):c.1584+18G>A
NM_004082.5(DCTN1):c.1584+19C>A
NM_004082.5(DCTN1):c.1584+20T>C rs1441516485
NM_004082.5(DCTN1):c.1584+9C>T rs751116557
NM_004082.5(DCTN1):c.1585-11T>C rs2103645005
NM_004082.5(DCTN1):c.1585-12C>T
NM_004082.5(DCTN1):c.1585-13TC[2] rs777190760
NM_004082.5(DCTN1):c.1585-14G>C
NM_004082.5(DCTN1):c.1585-17A>G
NM_004082.5(DCTN1):c.1585-20T>C
NM_004082.5(DCTN1):c.1585-4C>G
NM_004082.5(DCTN1):c.1585-6T>C rs2103644864
NM_004082.5(DCTN1):c.1602G>C (p.Leu534=)
NM_004082.5(DCTN1):c.1626G>A (p.Val542=) rs2103644312
NM_004082.5(DCTN1):c.1629G>A (p.Glu543=)
NM_004082.5(DCTN1):c.1635A>G (p.Gln545=)
NM_004082.5(DCTN1):c.1659T>C (p.Phe553=)
NM_004082.5(DCTN1):c.1662C>T (p.Asp554=) rs188566922
NM_004082.5(DCTN1):c.1671C>T (p.Ile557=)
NM_004082.5(DCTN1):c.1683G>A (p.Glu561=) rs1573158885
NM_004082.5(DCTN1):c.1701+10G>C rs2103643570
NM_004082.5(DCTN1):c.1702-19C>T
NM_004082.5(DCTN1):c.1702-20C>T
NM_004082.5(DCTN1):c.1702-7C>G
NM_004082.5(DCTN1):c.1707T>C (p.Ile569=) rs765410716
NM_004082.5(DCTN1):c.1758C>A (p.Ser586=) rs773517017
NM_004082.5(DCTN1):c.1761G>C (p.Leu587=)
NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)
NM_004082.5(DCTN1):c.1854+10A>G
NM_004082.5(DCTN1):c.1854+18C>T
NM_004082.5(DCTN1):c.1854+9A>G
NM_004082.5(DCTN1):c.1855-7C>T rs2103634309
NM_004082.5(DCTN1):c.1863G>C (p.Leu621=) rs2103634135
NM_004082.5(DCTN1):c.1867C>A (p.Arg623=) rs764568642
NM_004082.5(DCTN1):c.1986G>A (p.Leu662=) rs1409478361
NM_004082.5(DCTN1):c.1995C>A (p.Ala665=) rs767698839
NM_004082.5(DCTN1):c.2004C>T (p.His668=)
NM_004082.5(DCTN1):c.2015+19C>A
NM_004082.5(DCTN1):c.2015+5G>A rs770696267
NM_004082.5(DCTN1):c.2016-12T>C
NM_004082.5(DCTN1):c.2031C>T (p.Cys677=) rs112930313
NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)
NM_004082.5(DCTN1):c.2088G>A (p.Glu696=)
NM_004082.5(DCTN1):c.2091C>G (p.Arg697=)
NM_004082.5(DCTN1):c.2103C>T (p.Phe701=)
NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
NM_004082.5(DCTN1):c.2154G>A (p.Glu718=)
NM_004082.5(DCTN1):c.2163C>T (p.Thr721=)
NM_004082.5(DCTN1):c.2184+16T>C
NM_004082.5(DCTN1):c.2184+19G>A rs1349408124
NM_004082.5(DCTN1):c.2185-15G>C
NM_004082.5(DCTN1):c.2185-17_2185-14del
NM_004082.5(DCTN1):c.2202C>T (p.His734=) rs2103626323
NM_004082.5(DCTN1):c.2208C>G (p.Ala736=)
NM_004082.5(DCTN1):c.2217T>G (p.Pro739=) rs1553464448
NM_004082.5(DCTN1):c.2238G>A (p.Leu746=) rs1553464441
NM_004082.5(DCTN1):c.2253+13G>A
NM_004082.5(DCTN1):c.2253+14G>T rs2103625486
NM_004082.5(DCTN1):c.2253+16C>T
NM_004082.5(DCTN1):c.2254-18A>G
NM_004082.5(DCTN1):c.2254-8C>T rs1674478166
NM_004082.5(DCTN1):c.2259G>A (p.Thr753=)
NM_004082.5(DCTN1):c.2259G>C (p.Thr753=) rs200275059
NM_004082.5(DCTN1):c.2283T>C (p.Ser761=) rs879630850
NM_004082.5(DCTN1):c.2292A>G (p.Val764=) rs1290529283
NM_004082.5(DCTN1):c.2301G>A (p.Leu767=)
NM_004082.5(DCTN1):c.2316+15A>G
NM_004082.5(DCTN1):c.2317-15C>G
NM_004082.5(DCTN1):c.2317-16T>C rs1674462194
NM_004082.5(DCTN1):c.2317-19T>C
NM_004082.5(DCTN1):c.2317-20A>G
NM_004082.5(DCTN1):c.231G>A (p.Lys77=)
NM_004082.5(DCTN1):c.2328G>A (p.Glu776=) rs2104417915
NM_004082.5(DCTN1):c.2367T>G (p.Thr789=) rs994669046
NM_004082.5(DCTN1):c.2382C>A (p.Ile794=) rs142107482
NM_004082.5(DCTN1):c.2418A>G (p.Pro806=) rs2104417117
NM_004082.5(DCTN1):c.2442A>G (p.Pro814=) rs2104416925
NM_004082.5(DCTN1):c.2454C>G (p.Ala818=) rs766673794
NM_004082.5(DCTN1):c.2466+17G>C rs2104416659
NM_004082.5(DCTN1):c.2467-17T>C
NM_004082.5(DCTN1):c.2467-7C>G
NM_004082.5(DCTN1):c.2469A>G (p.Val823=)
NM_004082.5(DCTN1):c.2496A>G (p.Lys832=)
NM_004082.5(DCTN1):c.24G>A (p.Val8=)
NM_004082.5(DCTN1):c.2520G>A (p.Val840=) rs2104415505
NM_004082.5(DCTN1):c.2628+11A>G
NM_004082.5(DCTN1):c.2628+3G>A
NM_004082.5(DCTN1):c.2629-13T>C
NM_004082.5(DCTN1):c.2629-18T>C
NM_004082.5(DCTN1):c.2676A>G (p.Ser892=)
NM_004082.5(DCTN1):c.2688C>T (p.Leu896=)
NM_004082.5(DCTN1):c.2706G>A (p.Lys902=)
NM_004082.5(DCTN1):c.2760+10G>C rs2104413368
NM_004082.5(DCTN1):c.2760+11A>G
NM_004082.5(DCTN1):c.2760+18T>C
NM_004082.5(DCTN1):c.2760+8G>A
NM_004082.5(DCTN1):c.2761-13_2761-10dup rs1308261864
NM_004082.5(DCTN1):c.2761-14C>T
NM_004082.5(DCTN1):c.2761-16A>C
NM_004082.5(DCTN1):c.2761-16A>G
NM_004082.5(DCTN1):c.2761-19C>T
NM_004082.5(DCTN1):c.2761-20C>G
NM_004082.5(DCTN1):c.2769G>A (p.Pro923=)
NM_004082.5(DCTN1):c.279+11C>A
NM_004082.5(DCTN1):c.279+20G>T
NM_004082.5(DCTN1):c.280-14del
NM_004082.5(DCTN1):c.280-34_280-12del rs762313810
NM_004082.5(DCTN1):c.280-5C>T rs1675307447
NM_004082.5(DCTN1):c.2835C>A (p.Leu945=) rs138305126
NM_004082.5(DCTN1):c.2835C>T (p.Leu945=) rs138305126
NM_004082.5(DCTN1):c.2871G>A (p.Lys957=)
NM_004082.5(DCTN1):c.2886+18T>C rs1409532126
NM_004082.5(DCTN1):c.2886+19C>T rs1417650041
NM_004082.5(DCTN1):c.2887-14C>G
NM_004082.5(DCTN1):c.2887-5T>A
NM_004082.5(DCTN1):c.2887-8T>A
NM_004082.5(DCTN1):c.288A>G (p.Val96=) rs1553466396
NM_004082.5(DCTN1):c.2937G>A (p.Lys979=)
NM_004082.5(DCTN1):c.2973C>T (p.Ile991=)
NM_004082.5(DCTN1):c.2991G>C (p.Arg997=)
NM_004082.5(DCTN1):c.2992C>T (p.Leu998=)
NM_004082.5(DCTN1):c.3012G>T (p.Leu1004=)
NM_004082.5(DCTN1):c.3024G>A (p.Lys1008=)
NM_004082.5(DCTN1):c.3029+12T>G
NM_004082.5(DCTN1):c.3029+16T>C
NM_004082.5(DCTN1):c.3030-20G>A
NM_004082.5(DCTN1):c.3045A>G (p.Thr1015=)
NM_004082.5(DCTN1):c.3096A>G (p.Glu1032=)
NM_004082.5(DCTN1):c.3129C>T (p.Arg1043=) rs1354118647
NM_004082.5(DCTN1):c.3132G>A (p.Thr1044=) rs375157202
NM_004082.5(DCTN1):c.3174T>G (p.Thr1058=) rs2104406793
NM_004082.5(DCTN1):c.3196+16T>C rs773177686
NM_004082.5(DCTN1):c.3196+19G>A rs1371299263
NM_004082.5(DCTN1):c.3197-11C>G rs374292466
NM_004082.5(DCTN1):c.3197-16G>T
NM_004082.5(DCTN1):c.3197-19T>C rs1258376234
NM_004082.5(DCTN1):c.3197-20A>G
NM_004082.5(DCTN1):c.3197-6G>A
NM_004082.5(DCTN1):c.3197-9C>T
NM_004082.5(DCTN1):c.3211+13T>G
NM_004082.5(DCTN1):c.3211+14C>G
NM_004082.5(DCTN1):c.3211+19C>G rs377261118
NM_004082.5(DCTN1):c.3211+19C>T
NM_004082.5(DCTN1):c.3211+20G>A
NM_004082.5(DCTN1):c.3211+9C>G
NM_004082.5(DCTN1):c.3212-20A>T
NM_004082.5(DCTN1):c.3219C>T (p.Ile1073=)
NM_004082.5(DCTN1):c.3279G>T (p.Leu1093=)
NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)
NM_004082.5(DCTN1):c.33+16C>G
NM_004082.5(DCTN1):c.33+16C>T
NM_004082.5(DCTN1):c.3303G>A (p.Arg1101=)
NM_004082.5(DCTN1):c.3333C>T (p.Asn1111=)
NM_004082.5(DCTN1):c.3339C>A (p.Ile1113=)
NM_004082.5(DCTN1):c.3345+10C>T rs1558932839
NM_004082.5(DCTN1):c.3345+17G>A
NM_004082.5(DCTN1):c.3346-17T>C
NM_004082.5(DCTN1):c.3375C>G (p.Ser1125=) rs921121555
NM_004082.5(DCTN1):c.3378G>A (p.Leu1126=)
NM_004082.5(DCTN1):c.34-13C>A
NM_004082.5(DCTN1):c.34-20T>C
NM_004082.5(DCTN1):c.3417T>C (p.Pro1139=)
NM_004082.5(DCTN1):c.3420C>G (p.Gly1140=)
NM_004082.5(DCTN1):c.3511A>G (p.Ile1171Val)
NM_004082.5(DCTN1):c.3516T>G (p.Thr1172=)
NM_004082.5(DCTN1):c.3529+13C>T rs1674126281
NM_004082.5(DCTN1):c.3529+15A>G
NM_004082.5(DCTN1):c.3529+20C>T rs890924549
NM_004082.5(DCTN1):c.3529+8C>G
NM_004082.5(DCTN1):c.3530-18A>G rs767080798
NM_004082.5(DCTN1):c.3537G>A (p.Lys1179=) rs148146325
NM_004082.5(DCTN1):c.3540C>T (p.Ser1180=)
NM_004082.5(DCTN1):c.358+17_358+18insGA rs2103719288
NM_004082.5(DCTN1):c.359-6C>T
NM_004082.5(DCTN1):c.3595G>A (p.Val1199Ile) rs538291598
NM_004082.5(DCTN1):c.3609+17dup
NM_004082.5(DCTN1):c.3610-16C>T
NM_004082.5(DCTN1):c.3610-17C>G rs2104390002
NM_004082.5(DCTN1):c.3610-20C>T
NM_004082.5(DCTN1):c.3610-5C>G
NM_004082.5(DCTN1):c.3610-5C>T
NM_004082.5(DCTN1):c.3645T>C (p.Pro1215=)
NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)
NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=) rs1573138460
NM_004082.5(DCTN1):c.3699+11G>A
NM_004082.5(DCTN1):c.3699+18_3699+29del rs780978911
NM_004082.5(DCTN1):c.3699+8_3699+9dup
NM_004082.5(DCTN1):c.3699+9dup rs542984299
NM_004082.5(DCTN1):c.3700-18C>A
NM_004082.5(DCTN1):c.3700-18C>T
NM_004082.5(DCTN1):c.3700-20T>C
NM_004082.5(DCTN1):c.3700-4C>T rs1182597936
NM_004082.5(DCTN1):c.3700-6C>A
NM_004082.5(DCTN1):c.3700-6C>T rs371163273
NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)
NM_004082.5(DCTN1):c.3747C>G (p.Thr1249=) rs759710617
NM_004082.5(DCTN1):c.3747C>T (p.Thr1249=) rs759710617
NM_004082.5(DCTN1):c.3780C>T (p.His1260=)
NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=) rs779676968
NM_004082.5(DCTN1):c.378A>G (p.Ala126=)
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys) rs146083590
NM_004082.5(DCTN1):c.3828C>T (p.Leu1276=) rs374006190
NM_004082.5(DCTN1):c.3834C>T (p.Ser1278=)
NM_004082.5(DCTN1):c.393+15G>A
NM_004082.5(DCTN1):c.393+15G>T rs535614130
NM_004082.5(DCTN1):c.394-10C>T rs541163314
NM_004082.5(DCTN1):c.394-17dup rs771736182
NM_004082.5(DCTN1):c.394-20C>T
NM_004082.5(DCTN1):c.394-9_394-7del rs932190621
NM_004082.5(DCTN1):c.414+12A>C
NM_004082.5(DCTN1):c.415-5G>A rs2103694423
NM_004082.5(DCTN1):c.432+10C>T rs758964727
NM_004082.5(DCTN1):c.432+14C>T
NM_004082.5(DCTN1):c.432+18C>A rs201820150
NM_004082.5(DCTN1):c.432+18C>T rs201820150
NM_004082.5(DCTN1):c.432+19G>A rs375037820
NM_004082.5(DCTN1):c.432+19G>C
NM_004082.5(DCTN1):c.432+19G>T
NM_004082.5(DCTN1):c.433-17T>A
NM_004082.5(DCTN1):c.433-9C>T
NM_004082.5(DCTN1):c.453+14C>A
NM_004082.5(DCTN1):c.453+15C>T
NM_004082.5(DCTN1):c.454-12C>T
NM_004082.5(DCTN1):c.454-17C>T
NM_004082.5(DCTN1):c.454-7T>C rs1275843862
NM_004082.5(DCTN1):c.495C>T (p.Ser165=)
NM_004082.5(DCTN1):c.519G>A (p.Ala173=) rs376565787
NM_004082.5(DCTN1):c.528T>G (p.Gly176=)
NM_004082.5(DCTN1):c.537C>T (p.Ser179=)
NM_004082.5(DCTN1):c.540C>T (p.Ser180=)
NM_004082.5(DCTN1):c.546G>A (p.Glu182=)
NM_004082.5(DCTN1):c.549C>T (p.Pro183=)
NM_004082.5(DCTN1):c.570G>T (p.Pro190=) rs528908728
NM_004082.5(DCTN1):c.588C>T (p.Ile196=) rs761974691
NM_004082.5(DCTN1):c.606C>G (p.Thr202=)
NM_004082.5(DCTN1):c.627G>A (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.627G>C (p.Pro209=)
NM_004082.5(DCTN1):c.645+11G>T
NM_004082.5(DCTN1):c.645+19G>A
NM_004082.5(DCTN1):c.645+8C>T rs1170361781
NM_004082.5(DCTN1):c.646-20G>A
NM_004082.5(DCTN1):c.646-9C>T rs771722291
NM_004082.5(DCTN1):c.660A>G (p.Leu220=)
NM_004082.5(DCTN1):c.663G>A (p.Arg221=) rs1573164850
NM_004082.5(DCTN1):c.69C>T (p.Ser23=)
NM_004082.5(DCTN1):c.714G>T (p.Arg238=)
NM_004082.5(DCTN1):c.786G>A (p.Lys262=) rs1573164518
NM_004082.5(DCTN1):c.843+13A>G
NM_004082.5(DCTN1):c.843+14T>G
NM_004082.5(DCTN1):c.843+18G>A
NM_004082.5(DCTN1):c.843+19G>A rs556822905
NM_004082.5(DCTN1):c.843+19G>C
NM_004082.5(DCTN1):c.843+19G>T rs556822905
NM_004082.5(DCTN1):c.843+7C>T
NM_004082.5(DCTN1):c.844-17C>T
NM_004082.5(DCTN1):c.852G>A (p.Lys284=)
NM_004082.5(DCTN1):c.858G>A (p.Ala286=) rs151107870
NM_004082.5(DCTN1):c.879T>C (p.Tyr293=)
NM_004082.5(DCTN1):c.885G>A (p.Glu295=) rs1219824885
NM_004082.5(DCTN1):c.900T>A (p.Thr300=)
NM_004082.5(DCTN1):c.903T>C (p.Ala301=) rs2103660730
NM_004082.5(DCTN1):c.909C>T (p.Ala303=) rs1206939326
NM_004082.5(DCTN1):c.921C>T (p.Ala307=)
NM_004082.5(DCTN1):c.954T>C (p.Ala318=)
NM_004082.5(DCTN1):c.969G>A (p.Gln323=)
NM_004082.5(DCTN1):c.990G>A (p.Glu330=) rs2103660210
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) rs200952455
NM_004738.5(VAPB):c.*5479C>T rs554455751
NM_004738.5(VAPB):c.-150C>G rs572151788
NM_004738.5(VAPB):c.111C>T (p.Asp37=) rs781691837
NM_004738.5(VAPB):c.117T>C (p.Asn39=) rs748583918
NM_004738.5(VAPB):c.189A>C (p.Ala63=) rs2123058915
NM_004738.5(VAPB):c.195C>A (p.Ala65=) rs1555813003
NM_004738.5(VAPB):c.207A>G (p.Val69=)
NM_004738.5(VAPB):c.211+11A>T
NM_004738.5(VAPB):c.21C>G (p.Val7=) rs763066492
NM_004738.5(VAPB):c.246G>A (p.Glu82=)
NM_004738.5(VAPB):c.24G>A (p.Leu8=)
NM_004738.5(VAPB):c.252T>C (p.Ser84=) rs2123088934
NM_004738.5(VAPB):c.309A>G (p.Glu103=)
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.315+14G>A
NM_004738.5(VAPB):c.315+14G>T
NM_004738.5(VAPB):c.315+15C>A rs2123089093
NM_004738.5(VAPB):c.316-17A>T rs201335617
NM_004738.5(VAPB):c.375G>A (p.Leu125=) rs2123096724
NM_004738.5(VAPB):c.378A>G (p.Pro126=) rs981564507
NM_004738.5(VAPB):c.384G>A (p.Glu128=)
NM_004738.5(VAPB):c.396+16G>A
NM_004738.5(VAPB):c.396+21_396+23del
NM_004738.5(VAPB):c.396+9A>G
NM_004738.5(VAPB):c.397-12G>T
NM_004738.5(VAPB):c.397-17C>T
NM_004738.5(VAPB):c.402T>C (p.Asp134=)
NM_004738.5(VAPB):c.438A>G (p.Ser146=)
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004738.5(VAPB):c.547C>T (p.Leu183=)
NM_004738.5(VAPB):c.564G>A (p.Lys188=) rs1252962552
NM_004738.5(VAPB):c.573+16C>A
NM_004738.5(VAPB):c.574-15C>T
NM_004738.5(VAPB):c.574-7C>T
NM_004738.5(VAPB):c.58+10A>G
NM_004738.5(VAPB):c.58+18C>T
NM_004738.5(VAPB):c.58+8C>G
NM_004738.5(VAPB):c.59-11T>C
NM_004738.5(VAPB):c.59-11_59-10del
NM_004738.5(VAPB):c.59-16_59-15del
NM_004738.5(VAPB):c.63C>G (p.Pro21=)
NM_004738.5(VAPB):c.69C>T (p.Thr23=)
NM_004738.5(VAPB):c.78C>T (p.Val26=) rs2123058654
NM_004738.5(VAPB):c.99C>T (p.Gly33=)
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.3(FUS):c.521_523+3dup6
NM_004960.4(FUS):c.*132C>A rs565540429
NM_004960.4(FUS):c.1014G>A (p.Thr338=)
NM_004960.4(FUS):c.1014G>T (p.Thr338=) rs374933969
NM_004960.4(FUS):c.1066+14G>A
NM_004960.4(FUS):c.1067-15T>A
NM_004960.4(FUS):c.1067-16T>C
NM_004960.4(FUS):c.1067-17del
NM_004960.4(FUS):c.1086T>C (p.Asn362=)
NM_004960.4(FUS):c.1125T>C (p.Phe375=)
NM_004960.4(FUS):c.1168+16C>T
NM_004960.4(FUS):c.1169-7G>A rs763718245
NM_004960.4(FUS):c.119G>C (p.Gly40Ala)
NM_004960.4(FUS):c.1292+20T>A
NM_004960.4(FUS):c.1293-13C>T
NM_004960.4(FUS):c.135G>T (p.Thr45=)
NM_004960.4(FUS):c.1377A>C (p.Pro459=)
NM_004960.4(FUS):c.1393+17T>C
NM_004960.4(FUS):c.1393+20T>G
NM_004960.4(FUS):c.1394-12C>T
NM_004960.4(FUS):c.1394-13del
NM_004960.4(FUS):c.1394-19C>A
NM_004960.4(FUS):c.1395G>T (p.Gly465=)
NM_004960.4(FUS):c.14-9C>G
NM_004960.4(FUS):c.1404C>T (p.Tyr468=) rs562029185
NM_004960.4(FUS):c.1446C>T (p.Gly482=) rs112061837
NM_004960.4(FUS):c.1506C>T (p.Asp502=)
NM_004960.4(FUS):c.1541+12A>C
NM_004960.4(FUS):c.1541+9_1541+10del rs761850706
NM_004960.4(FUS):c.190+16C>T
NM_004960.4(FUS):c.191-8C>T
NM_004960.4(FUS):c.231G>A (p.Ser77=) rs746093073
NM_004960.4(FUS):c.234T>C (p.Thr78=)
NM_004960.4(FUS):c.267G>A (p.Ser89=)
NM_004960.4(FUS):c.285C>G (p.Ser95=)
NM_004960.4(FUS):c.335+8G>C
NM_004960.4(FUS):c.336-19T>G
NM_004960.4(FUS):c.336-20T>G
NM_004960.4(FUS):c.336-4C>G
NM_004960.4(FUS):c.38+19C>T
NM_004960.4(FUS):c.39-11C>G rs1449243081
NM_004960.4(FUS):c.414A>G (p.Gly138=)
NM_004960.4(FUS):c.432A>T (p.Gly144=)
NM_004960.4(FUS):c.453C>T (p.Pro151=)
NM_004960.4(FUS):c.523+21_523+24del
NM_004960.4(FUS):c.524-13del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_004960.4(FUS):c.52C>A (p.Pro18Thr) rs144888138
NM_004960.4(FUS):c.576C>T (p.Gly192=)
NM_004960.4(FUS):c.579T>G (p.Gly193=)
NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[5] (p.Gly231del) rs72550890
NM_004960.4(FUS):c.672C>T (p.Gly224=)
NM_004960.4(FUS):c.678C>T (p.Gly226=)
NM_004960.4(FUS):c.681C>T (p.Gly227=)
NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del) rs767564995
NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del) rs778398729
NM_004960.4(FUS):c.685GGT[2] (p.Gly231del)
NM_004960.4(FUS):c.705C>T (p.Ser235=)
NM_004960.4(FUS):c.726A>G (p.Arg242=) rs2144114862
NM_004960.4(FUS):c.744T>A (p.Arg248=) rs1596898427
NM_004960.4(FUS):c.759C>T (p.Gly253=)
NM_004960.4(FUS):c.764+9C>G
NM_004960.4(FUS):c.799+13_799+14del
NM_004960.4(FUS):c.810C>T (p.Asp270=) rs1238867683
NM_004960.4(FUS):c.832+13G>A
NM_004960.4(FUS):c.833-10C>G
NM_004960.4(FUS):c.849C>T (p.Asp283=)
NM_004960.4(FUS):c.906T>C (p.Ala302=)
NM_004960.4(FUS):c.936+12G>A
NM_004960.4(FUS):c.936+21dup rs764726122
NM_004960.4(FUS):c.936+7G>A
NM_004960.4(FUS):c.937-10C>T rs199705472
NM_004960.4(FUS):c.96C>T (p.Pro32=) rs932534102
NM_005022.4(PFN1):c.351A>T (p.Glu117Asp)
NM_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.-12-10_-12-9del rs575825467
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_013444.4(UBQLN2):c.1001C>T (p.Thr334Met)
NM_013444.4(UBQLN2):c.1011C>T (p.Ser337=) rs972652102
NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=)
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)
NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser)
NM_013444.4(UBQLN2):c.138C>T (p.Phe46=)
NM_013444.4(UBQLN2):c.1407A>T (p.Ala469=)
NM_013444.4(UBQLN2):c.1416G>C (p.Leu472=)
NM_013444.4(UBQLN2):c.1422G>A (p.Pro474=)
NM_013444.4(UBQLN2):c.150G>A (p.Glu50=)
NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=)
NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=)
NM_013444.4(UBQLN2):c.159G>T (p.Ser53=)
NM_013444.4(UBQLN2):c.165G>A (p.Gln55=)
NM_013444.4(UBQLN2):c.1698C>T (p.Ala566=)
NM_013444.4(UBQLN2):c.1707A>T (p.Gly569=)
NM_013444.4(UBQLN2):c.1719A>G (p.Pro573=)
NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=)
NM_013444.4(UBQLN2):c.1852C>T (p.Leu618=) rs1602589986
NM_013444.4(UBQLN2):c.186G>A (p.Ser62=)
NM_013444.4(UBQLN2):c.1872G>A (p.Ser624=)
NM_013444.4(UBQLN2):c.195C>T (p.Phe65=)
NM_013444.4(UBQLN2):c.399C>T (p.Ser133=)
NM_013444.4(UBQLN2):c.462T>C (p.Leu154=)
NM_013444.4(UBQLN2):c.900C>T (p.Ser300=) rs1451386394
NM_013444.4(UBQLN2):c.915G>C (p.Thr305=) rs1474772730
NM_013444.4(UBQLN2):c.969G>A (p.Pro323=)
NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)
NM_014043.4(CHMP2B):c.127-7C>T
NM_014043.4(CHMP2B):c.180T>G (p.Val60=)
NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)
NM_014043.4(CHMP2B):c.234A>C (p.Val78=) rs765641845
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=) rs778796624
NM_014043.4(CHMP2B):c.321+10A>C
NM_014043.4(CHMP2B):c.34+14C>G
NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)
NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)
NM_014043.4(CHMP2B):c.424+19_424+21del rs2106913116
NM_014043.4(CHMP2B):c.424+20A>C
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=) rs767746876
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=) rs1285764025
NM_014043.4(CHMP2B):c.531+14C>A
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014043.4(CHMP2B):c.532-14A>G
NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_018834.6(MATR3):c.1010A>G (p.His337Arg) rs553687055
NM_018834.6(MATR3):c.1016+13T>C
NM_018834.6(MATR3):c.1017-16G>A rs2151984888
NM_018834.6(MATR3):c.1017-4C>T rs1035772952
NM_018834.6(MATR3):c.1017-4dup
NM_018834.6(MATR3):c.102G>A (p.Gln34=) rs747469006
NM_018834.6(MATR3):c.1129+7A>G rs1477606021
NM_018834.6(MATR3):c.1130-14C>G
NM_018834.6(MATR3):c.1130-18C>A rs1755284160
NM_018834.6(MATR3):c.1182+11A>G rs774114454
NM_018834.6(MATR3):c.1182+17T>G
NM_018834.6(MATR3):c.1183-4A>T
NM_018834.6(MATR3):c.1183-5del
NM_018834.6(MATR3):c.1245A>G (p.Leu415=)
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
NM_018834.6(MATR3):c.1263A>G (p.Pro421=) rs1581248568
NM_018834.6(MATR3):c.1284T>C (p.His428=)
NM_018834.6(MATR3):c.1308+18G>A
NM_018834.6(MATR3):c.1308+24_1308+26del
NM_018834.6(MATR3):c.1309-10A>G
NM_018834.6(MATR3):c.1332A>G (p.Thr444=)
NM_018834.6(MATR3):c.1383A>G (p.Val461=)
NM_018834.6(MATR3):c.1398G>A (p.Val466=)
NM_018834.6(MATR3):c.1413C>A (p.Ser471=)
NM_018834.6(MATR3):c.1434+10del rs2151995486
NM_018834.6(MATR3):c.1435-17G>A rs1291025838
NM_018834.6(MATR3):c.153C>T (p.Arg51=)
NM_018834.6(MATR3):c.1596A>G (p.Lys532=)
NM_018834.6(MATR3):c.1602+10A>G
NM_018834.6(MATR3):c.1602+9C>T
NM_018834.6(MATR3):c.1603-11T>C
NM_018834.6(MATR3):c.1603-11T>G
NM_018834.6(MATR3):c.1603-13_1603-12del
NM_018834.6(MATR3):c.1603-17T>G
NM_018834.6(MATR3):c.1603-18C>G
NM_018834.6(MATR3):c.1603-18C>T
NM_018834.6(MATR3):c.1603-19T>C
NM_018834.6(MATR3):c.1603-7T>C rs1161987811
NM_018834.6(MATR3):c.1603-7_1603-4del
NM_018834.6(MATR3):c.1603-9_1603-6del
NM_018834.6(MATR3):c.1603-9_1603-8del rs1581255414
NM_018834.6(MATR3):c.1629A>G (p.Glu543=)
NM_018834.6(MATR3):c.165A>G (p.Leu55=)
NM_018834.6(MATR3):c.1668C>T (p.Ala556=)
NM_018834.6(MATR3):c.1689T>C (p.Cys563=) rs201037038
NM_018834.6(MATR3):c.1716T>C (p.Tyr572=)
NM_018834.6(MATR3):c.1734+10A>G
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1734+19G>A
NM_018834.6(MATR3):c.1734+7A>G
NM_018834.6(MATR3):c.1735-18A>C rs781510247
NM_018834.6(MATR3):c.1735-19C>G
NM_018834.6(MATR3):c.1778+17T>C rs776365113
NM_018834.6(MATR3):c.1779-19T>G
NM_018834.6(MATR3):c.1803C>G (p.Gly601=) rs746452114
NM_018834.6(MATR3):c.1812T>A (p.Ser604=)
NM_018834.6(MATR3):c.1839T>C (p.Asp613=)
NM_018834.6(MATR3):c.1854T>A (p.Thr618=)
NM_018834.6(MATR3):c.1899A>G (p.Glu633=)
NM_018834.6(MATR3):c.18G>A (p.Gln6=)
NM_018834.6(MATR3):c.1908G>A (p.Glu636=)
NM_018834.6(MATR3):c.190T>C (p.Leu64=) rs775134951
NM_018834.6(MATR3):c.1914C>T (p.Asp638=) rs369312174
NM_018834.6(MATR3):c.1920G>A (p.Lys640=)
NM_018834.6(MATR3):c.1972C>T (p.Leu658=) rs745805004
NM_018834.6(MATR3):c.2016C>G (p.Gly672=)
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2046T>A (p.Ala682=)
NM_018834.6(MATR3):c.2076A>G (p.Lys692=)
NM_018834.6(MATR3):c.2148+14C>G
NM_018834.6(MATR3):c.2148+17T>A
NM_018834.6(MATR3):c.2148+8_2148+11del rs745750214
NM_018834.6(MATR3):c.2148+9A>G
NM_018834.6(MATR3):c.2149-8A>G
NM_018834.6(MATR3):c.2160C>T (p.Ile720=)
NM_018834.6(MATR3):c.2187A>G (p.Ala729=)
NM_018834.6(MATR3):c.2190G>A (p.Ala730=)
NM_018834.6(MATR3):c.2199T>C (p.Asn733=)
NM_018834.6(MATR3):c.2220C>T (p.Asn740=) rs1204915381
NM_018834.6(MATR3):c.2223A>G (p.Thr741=)
NM_018834.6(MATR3):c.2232T>G (p.Gly744=) rs1581261752
NM_018834.6(MATR3):c.2235T>C (p.Ala745=)
NM_018834.6(MATR3):c.2301T>C (p.Asp767=) rs748749843
NM_018834.6(MATR3):c.2313C>T (p.Asp771=)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.2331T>C (p.Asp777=)
NM_018834.6(MATR3):c.2371+10A>G
NM_018834.6(MATR3):c.2371+13T>G rs2152022664
NM_018834.6(MATR3):c.2372-4C>T
NM_018834.6(MATR3):c.2424C>G (p.Leu808=) rs2152024327
NM_018834.6(MATR3):c.2448A>G (p.Ala816=)
NM_018834.6(MATR3):c.2493+12T>A
NM_018834.6(MATR3):c.2493+19C>T rs2152024488
NM_018834.6(MATR3):c.2494-8_2494-5del
NM_018834.6(MATR3):c.2494-9T>C
NM_018834.6(MATR3):c.306T>C (p.Arg102=) rs1397245799
NM_018834.6(MATR3):c.306T>G (p.Arg102=)
NM_018834.6(MATR3):c.334T>C (p.Leu112=)
NM_018834.6(MATR3):c.420A>G (p.Gln140=)
NM_018834.6(MATR3):c.429A>G (p.Leu143=)
NM_018834.6(MATR3):c.439A>C (p.Arg147=)
NM_018834.6(MATR3):c.459C>G (p.Gly153=)
NM_018834.6(MATR3):c.462T>C (p.Pro154=)
NM_018834.6(MATR3):c.474T>C (p.Tyr158=)
NM_018834.6(MATR3):c.504G>A (p.Glu168=)
NM_018834.6(MATR3):c.63G>C (p.Leu21=)
NM_018834.6(MATR3):c.663T>C (p.Asp221=) rs2151961303
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_018834.6(MATR3):c.747G>A (p.Glu249=)
NM_018834.6(MATR3):c.795C>T (p.Leu265=) rs1354833142
NM_018834.6(MATR3):c.813C>T (p.Gly271=) rs1754806535
NM_018834.6(MATR3):c.81C>G (p.Gly27=)
NM_018834.6(MATR3):c.870C>T (p.Pro290=)
NM_018834.6(MATR3):c.897A>C (p.Pro299=)
NM_018834.6(MATR3):c.90T>C (p.Ala30=)
NM_018834.6(MATR3):c.912+11_912+15del
NM_018834.6(MATR3):c.924A>G (p.Gln308=)
NM_018834.6(MATR3):c.93T>G (p.Ala31=)
NM_018834.6(MATR3):c.966T>C (p.Leu322=)
NM_018834.6(MATR3):c.974+20T>C
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_031157.4(HNRNPA1):c.491-3dup rs202119045

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