ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis by Invitae

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5454
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_013254.4(TBK1):c.978T>A (p.Ile326=) rs7486100 0.43650
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_001008212.2(OPTN):c.369+39T>G rs79529484 0.22121
NM_001008212.2(OPTN):c.166+66A>G rs10906303 0.20691
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro) rs1800866 0.17661
NM_007375.4(TARDBP):c.-13+95C>T rs11121681 0.13481
NM_007375.3(TARDBP):c.-122G>A rs11121679 0.13475
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr) rs111677724 0.05376
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=) rs13429423 0.04117
NM_000454.4(SOD1):c.-109A>G rs7277748 0.03982
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met) rs13420401 0.03855
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_000454.5(SOD1):c.73-108T>A rs16988404 0.03480
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=) rs10058037 0.03284
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03152
NM_013254.4(TBK1):c.66T>C (p.Asn22=) rs41292019 0.03018
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) rs12115733 0.01994
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=) rs11548642 0.01636
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_213720.3(CHCHD10):c.42-7C>G rs567239313 0.01558
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_004960.4(FUS):c.1156C>A (p.Arg386=) rs61733965 0.01496
NM_004960.4(FUS):c.524-5C>T rs73530287 0.01495
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_018834.6(MATR3):c.1602+6A>G rs80036770 0.01434
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys) rs61748794 0.01418
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_004082.5(DCTN1):c.1288-3C>T rs72466490 0.01285
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00943
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_013254.4(TBK1):c.2139-11G>A rs41292027 0.00800
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) rs111527940 0.00755
NM_000454.5(SOD1):c.170-20T>C rs17885833 0.00737
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys) rs523747 0.00719
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser) rs200831077 0.00420
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_013254.4(TBK1):c.1761-11C>T rs145696668 0.00344
NM_013254.4(TBK1):c.519G>A (p.Leu173=) rs73313869 0.00315
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_004960.4(FUS):c.636C>T (p.Asp212=) rs147528034 0.00282
NM_003900.5(SQSTM1):c.755-90dup rs145727617 0.00280
NM_013254.4(TBK1):c.9C>T (p.Ser3=) rs115692983 0.00280
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_013254.4(TBK1):c.1522C>A (p.Leu508Ile) rs144424516 0.00245
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=) rs138183274 0.00227
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=) rs139061654 0.00215
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=) rs10972178 0.00210
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=) rs541251697 0.00208
NM_004960.4(FUS):c.273C>T (p.Tyr91=) rs73530286 0.00196
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met) rs143763184 0.00179
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_013254.4(TBK1):c.1110C>T (p.Phe370=) rs143590388 0.00155
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_213720.3(CHCHD10):c.41+7G>A rs141526972 0.00147
NM_015046.7(SETX):c.5548+19A>G rs201294921 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_014043.4(CHMP2B):c.35-7C>T rs200912994 0.00133
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=) rs140986485 0.00130
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_015046.7(SETX):c.6936-11A>G rs146193654 0.00129
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556 0.00120
NM_001008212.2(OPTN):c.876G>A (p.Pro292=) rs151065414 0.00118
NM_004738.5(VAPB):c.316-17A>C rs201335617 0.00115
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) rs370872556 0.00115
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_007375.4(TARDBP):c.24C>T (p.Thr8=) rs72870030 0.00112
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_013254.4(TBK1):c.135C>T (p.Phe45=) rs11538420 0.00108
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001008212.2(OPTN):c.779+20G>A rs79733653 0.00095
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00094
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924 0.00093
NM_013254.4(TBK1):c.1227C>T (p.Asp409=) rs150609728 0.00088
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=) rs142030960 0.00086
NM_007375.4(TARDBP):c.544-17C>T rs117557248 0.00085
NM_005866.4(SIGMAR1):c.151+15G>A rs368822102 0.00083
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=) rs148984239 0.00073
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) rs145958900 0.00070
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_001008212.2(OPTN):c.1148+13A>G rs368654623 0.00061
NM_004082.5(DCTN1):c.1998G>A (p.Thr666=) rs149900553 0.00061
NM_013254.4(TBK1):c.1189+10G>A rs185457813 0.00061
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024 0.00059
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00057
NM_004960.4(FUS):c.198T>C (p.Tyr66=) rs144853447 0.00056
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_003900.5(SQSTM1):c.969+20G>A rs199696608 0.00054
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_000454.5(SOD1):c.357+9T>C rs17886692 0.00051
NM_000454.5(SOD1):c.72+19G>A rs201574089 0.00051
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala) rs184147813 0.00051
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 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_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys) rs149276791 0.00041
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
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
NC_000009.12:g.34638237A>T rs148692127 0.00036
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=) rs143977783 0.00036
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp) rs532842754 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser) rs144466778 0.00034
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys) rs139372286 0.00034
NM_003900.5(SQSTM1):c.783C>T (p.His261=) rs145001811 0.00034
NM_004960.4(FUS):c.684C>T (p.Gly228=) rs151073460 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_015046.7(SETX):c.7982A>G (p.Lys2661Arg) rs199921065 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107 0.00034
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_004960.4(FUS):c.188A>G (p.Asn63Ser) rs140883211 0.00033
NM_013254.4(TBK1):c.964C>T (p.His322Tyr) rs145905497 0.00033
NM_018834.6(MATR3):c.1130-5T>A rs188905656 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_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_003900.5(SQSTM1):c.946T>C (p.Leu316=) rs140315612 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.3029+6G>T rs754143116 0.00029
NM_004082.5(DCTN1):c.597G>A (p.Pro199=) rs143607419 0.00029
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=) rs148750997 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_018834.6(MATR3):c.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_018834.6(MATR3):c.1183-5G>A rs369464069 0.00028
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) rs145649831 0.00028
NM_018834.6(MATR3):c.1130-4A>G rs371701183 0.00027
NM_018834.6(MATR3):c.1435-20G>A rs75623350 0.00027
NM_000454.5(SOD1):c.195T>C (p.Phe65=) rs147620646 0.00026
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=) rs200388590 0.00026
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val) rs143746604 0.00026
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) rs369470593 0.00026
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly) rs142134306 0.00026
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_015046.7(SETX):c.6208+17G>A rs182144319 0.00025
NM_213720.3(CHCHD10):c.409+1G>A rs367684804 0.00025
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) rs72466493 0.00024
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_007126.5(VCP):c.1482+18A>G rs370501665 0.00024
NM_007126.5(VCP):c.924C>T (p.Ala308=) rs199504528 0.00024
NM_013254.4(TBK1):c.812G>A (p.Arg271Gln) rs56196591 0.00024
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_003900.5(SQSTM1):c.674-17C>T rs372845160 0.00023
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=) rs115088049 0.00023
NM_004738.5(VAPB):c.105G>A (p.Pro35=) rs141383583 0.00023
NM_000454.5(SOD1):c.239+6A>C rs374610141 0.00022
NM_004738.5(VAPB):c.528G>A (p.Leu176=) rs199921117 0.00022
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_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala) rs138195434 0.00022
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_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_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) rs199931327 0.00019
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_015046.7(SETX):c.1464C>T (p.Ala488=) rs139275155 0.00019
NM_015046.7(SETX):c.3297T>C (p.Asp1099=) rs777404209 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00019
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr) rs148487997 0.00019
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=) rs150470670 0.00018
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly) rs545080321 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_013254.4(TBK1):c.916C>A (p.Leu306Ile) rs201970436 0.00018
NM_007126.5(VCP):c.2193C>T (p.Ile731=) rs186657793 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=) rs372482596 0.00016
NM_004082.5(DCTN1):c.570G>A (p.Pro190=) rs528908728 0.00016
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 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_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.498+14T>C rs753336459 0.00016
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_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_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_004960.4(FUS):c.132C>T (p.Ser44=) rs72550883 0.00015
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln) rs144370662 0.00015
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) rs149380040 0.00015
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 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_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) rs140599944 0.00014
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg) rs376802604 0.00014
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_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) rs367968662 0.00014
NM_013254.4(TBK1):c.1659A>C (p.Gln553His) rs772256797 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_015046.7(SETX):c.390C>T (p.Asn130=) rs138363625 0.00014
NM_018834.6(MATR3):c.1377G>A (p.Ala459=) rs147356202 0.00014
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689 0.00014
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr) rs376564889 0.00013
NM_004082.5(DCTN1):c.2990G>A (p.Arg997Gln) rs200580530 0.00013
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His) rs776489779 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.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr) rs113980038 0.00012
NM_004082.5(DCTN1):c.2015+3A>G rs200057343 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_005866.4(SIGMAR1):c.510G>A (p.Met170Ile) rs1336386973 0.00012
NM_013254.4(TBK1):c.108T>C (p.Ala36=) rs202056661 0.00012
NM_015046.7(SETX):c.3505A>G (p.Met1169Val) rs573849874 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_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.2588T>C (p.Val863Ala) rs150798076 0.00011
NM_004082.5(DCTN1):c.2967G>A (p.Glu989=) rs372554051 0.00011
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 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_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 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_003900.5(SQSTM1):c.85C>T (p.Pro29Ser) rs752506754 0.00010
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met) rs143914684 0.00010
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg) rs143800457 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 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.40A>G (p.Ser14Gly) rs758320436 0.00010
NM_004082.5(DCTN1):c.424G>C (p.Ala142Pro) rs372096285 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_004960.4(FUS):c.661_663del (p.Ser221del) rs746633090 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_013444.4(UBQLN2):c.51T>A (p.Pro17=) rs371163085 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met) rs140892948 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_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.1401+4A>G rs371470839 0.00009
NM_001008212.2(OPTN):c.883-17G>T rs561692004 0.00009
NM_003900.5(SQSTM1):c.171G>C (p.Ala57=) rs773605598 0.00009
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=) rs376214713 0.00009
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn) rs201923000 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_004082.5(DCTN1):c.3573G>A (p.Gln1191=) rs137966704 0.00009
NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) rs780851496 0.00009
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) rs144718603 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.1875G>T (p.Arg625=) rs201410035 0.00009
NM_007126.5(VCP):c.2229G>A (p.Ala743=) rs200767982 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_014043.4(CHMP2B):c.532-3T>C rs375829451 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.5852A>G (p.His1951Arg) rs146593865 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.2264A>G (p.Asn755Ser) rs144637575 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_199189.3(MATR3):c.-339+2T>A rs539017488 0.00009
NM_213720.3(CHCHD10):c.42-9C>A rs1392906115 0.00009
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu) rs371719657 0.00008
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 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.3546G>A (p.Ser1182=) rs149440626 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_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser) rs372751122 0.00008
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_013254.4(TBK1):c.630A>T (p.Thr210=) rs201336522 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.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.2865T>C (p.Asp955=) rs368932478 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly) rs371687197 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015046.7(SETX):c.5842A>G (p.Met1948Val) rs762267386 0.00008
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu) rs147705644 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_018834.6(MATR3):c.1435-14_1435-11del rs754942776 0.00008
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715 0.00007
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His) rs149424705 0.00007
NM_004082.5(DCTN1):c.1490G>A (p.Arg497His) rs369086889 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val) rs781268909 0.00007
NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=) rs202237523 0.00007
NM_004082.5(DCTN1):c.3529+3A>G rs370727908 0.00007
NM_004082.5(DCTN1):c.394-16C>G rs371506967 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_004738.5(VAPB):c.496G>A (p.Val166Ile) rs538630783 0.00007
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met) rs755520364 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_013444.4(UBQLN2):c.1302G>T (p.Leu434=) rs759543866 0.00007
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln) rs188471297 0.00007
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_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.274G>A (p.Ala92Thr) rs374353973 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.127C>T (p.Gln43Ter) rs934287314 0.00006
NM_001008212.2(OPTN):c.1401+21C>G rs553828705 0.00006
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr) rs760492259 0.00006
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala) rs750995656 0.00006
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu) rs375495050 0.00006
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.205+7G>C rs912066047 0.00006
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser) rs769325755 0.00006
NM_003900.5(SQSTM1):c.378G>A (p.Val126=) rs774780830 0.00006
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His) rs902195752 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=) rs145688323 0.00006
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) rs376283809 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 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.2002C>T (p.His668Tyr) rs764443534 0.00006
NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val) rs72659379 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.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg) rs758026180 0.00006
NM_004082.5(DCTN1):c.3699+12C>T rs372930172 0.00006
NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala) rs762752851 0.00006
NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln) rs573184955 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.574-5C>T rs200211497 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_004960.4(FUS):c.630G>C (p.Gln210His) rs779124981 0.00006
NM_004960.4(FUS):c.66G>A (p.Gly22=) rs147877613 0.00006
NM_004960.4(FUS):c.833-17C>T rs376953672 0.00006
NM_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.1482+4G>A rs768327051 0.00006
NM_007126.5(VCP):c.2316-4A>G rs755625059 0.00006
NM_007126.5(VCP):c.552C>T (p.Cys184=) rs769455914 0.00006
NM_007126.5(VCP):c.732C>T (p.Tyr244=) rs201610567 0.00006
NM_007375.4(TARDBP):c.1101C>T (p.Phe367=) rs377531374 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_013254.4(TBK1):c.1797G>A (p.Thr599=) rs758803587 0.00006
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=) rs376846232 0.00006
NM_014043.4(CHMP2B):c.424+10A>G rs375906390 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp) rs373536428 0.00006
NM_015046.7(SETX):c.1227A>G (p.Leu409=) rs769913556 0.00006
NM_015046.7(SETX):c.1497G>A (p.Ala499=) rs142936332 0.00006
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) rs761877146 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.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.3016G>A (p.Gly1006Arg) rs141266068 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.4136A>G (p.His1379Arg) rs181158146 0.00006
NM_015046.7(SETX):c.5274+8T>C rs369501754 0.00006
NM_015046.7(SETX):c.5616C>T (p.Asn1872=) rs201472554 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val) rs376524608 0.00006
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr) rs202121071 0.00006
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.93A>G (p.Gln31=) rs201795631 0.00006
NM_018834.6(MATR3):c.1129+9A>G rs372039740 0.00006
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val) rs766453846 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.1165+9A>G rs138885571 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_003900.5(SQSTM1):c.683C>T (p.Pro228Leu) rs151191977 0.00005
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln) rs1258386028 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 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.3137A>G (p.Glu1046Gly) rs145857843 0.00005
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu) rs752079233 0.00005
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly) rs780875333 0.00005
NM_004082.5(DCTN1):c.35C>T (p.Thr12Met) rs72659364 0.00005
NM_004082.5(DCTN1):c.393+7G>A rs778904039 0.00005
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln) rs149447433 0.00005
NM_004082.5(DCTN1):c.450C>T (p.Pro150=) rs762745227 0.00005
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala) rs752091117 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_013254.4(TBK1):c.1718G>A (p.Arg573His) rs186475789 0.00005
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) rs387906712 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val) rs772368310 0.00005
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510 0.00005
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574 0.00005
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) rs375241191 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180 0.00005
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile) rs61745659 0.00005
NM_015046.7(SETX):c.7164G>C (p.Thr2388=) rs368602563 0.00005
NM_015046.7(SETX):c.718+14C>A rs762900574 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_015046.7(SETX):c.991A>G (p.Ile331Val) rs572884359 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.14C>T (p.Ala5Val) rs121912442 0.00004
NM_000454.5(SOD1):c.180T>C (p.Ser60=) rs373888553 0.00004
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser) rs768029813 0.00004
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791 0.00004
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys) rs759605171 0.00004
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln) rs577097767 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888 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.1178G>A (p.Arg393Gln) rs200551825 0.00004
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu) rs745356508 0.00004
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=) rs182058393 0.00004
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile) rs539682696 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.50C>T (p.Ala17Val) rs141502868 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.650G>A (p.Arg217His) rs761822261 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.719T>C (p.Val240Ala) rs142719499 0.00004
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=) rs200889080 0.00004
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met) rs150926394 0.00004
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=) rs200695664 0.00004
NM_004082.5(DCTN1):c.122G>A (p.Arg41Gln) rs752399708 0.00004
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val) rs763480310 0.00004
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met) rs780858230 0.00004
NM_004082.5(DCTN1):c.1936G>T (p.Ala646Ser) rs146865209 0.00004
NM_004082.5(DCTN1):c.2090G>A (p.Arg697His) rs758712765 0.00004
NM_004082.5(DCTN1):c.2184+18G>T rs376497087 0.00004
NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys) rs377183051 0.00004
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr) rs374163967 0.00004
NM_004082.5(DCTN1):c.2467-17T>A rs371136234 0.00004
NM_004082.5(DCTN1):c.259A>G (p.Ile87Val) rs969750631 0.00004
NM_004082.5(DCTN1):c.2646C>T (p.Ser882=) rs191073199 0.00004
NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys) rs747769504 0.00004
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln) rs375079576 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.3353A>T (p.Gln1118Leu) rs1357089479 0.00004
NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His) rs980920477 0.00004
NM_004082.5(DCTN1):c.3533C>T (p.Ala1178Val) rs775442446 0.00004
NM_004082.5(DCTN1):c.3597C>T (p.Val1199=) rs767954436 0.00004
NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys) rs759373031 0.00004
NM_004082.5(DCTN1):c.3654A>G (p.Thr1218=) rs774374037 0.00004
NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val) rs1026036256 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.559G>T (p.Ala187Ser) rs960727301 0.00004
NM_004082.5(DCTN1):c.654G>A (p.Glu218=) rs758731839 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_004082.5(DCTN1):c.824G>A (p.Arg275His) rs375266113 0.00004
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu) rs774643393 0.00004
NM_004738.5(VAPB):c.58+5G>A rs753611165 0.00004
NM_004960.4(FUS):c.484A>C (p.Asn162His) rs200264565 0.00004
NM_004960.4(FUS):c.676G>A (p.Gly226Ser) rs758970940 0.00004
NM_004960.4(FUS):c.788A>G (p.Asn263Ser) rs144917373 0.00004
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln) rs140376902 0.00004
NM_005866.4(SIGMAR1):c.456A>G (p.Val152=) rs144813067 0.00004
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) rs146118253 0.00004
NM_007126.5(VCP):c.1242G>A (p.Leu414=) rs375262833 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.1169A>G (p.Asn390Ser) rs80356742 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.1057A>G (p.Ile353Val) rs755655622 0.00004
NM_013254.4(TBK1):c.1062C>T (p.Tyr354=) rs141340205 0.00004
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser) rs748061846 0.00004
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile) rs779715292 0.00004
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr) rs199905735 0.00004
NM_013254.4(TBK1):c.1792A>G (p.Met598Val) rs899858451 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_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys) rs753009660 0.00004
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile) rs374277596 0.00004
NM_014043.4(CHMP2B):c.321+3A>G rs989392144 0.00004
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser) rs63750944 0.00004
NM_015046.7(SETX):c.1140T>G (p.Pro380=) rs140553290 0.00004
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) rs764995848 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.2234G>A (p.Arg745His) rs373933140 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.2543T>G (p.Val848Gly) rs567711722 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr) rs760535401 0.00004
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) rs376381668 0.00004
NM_015046.7(SETX):c.377A>G (p.His126Arg) rs368932301 0.00004
NM_015046.7(SETX):c.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.4436C>T (p.Ala1479Val) rs761119964 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733 0.00004
NM_015046.7(SETX):c.5814A>G (p.Gln1938=) rs143868969 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 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.7073A>G (p.Asp2358Gly) rs770469636 0.00004
NM_015046.7(SETX):c.719-4A>G rs775443601 0.00004
NM_015046.7(SETX):c.7200-15T>C rs754019832 0.00004
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) rs773364996 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.77C>T (p.Pro26Leu) rs377617692 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_015046.7(SETX):c.986G>A (p.Arg329Gln) rs376077293 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.1778+5T>C rs377212154 0.00004
NM_018834.6(MATR3):c.1896T>C (p.Gly632=) rs202208841 0.00004
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala) rs765603068 0.00004
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542 0.00004
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn) rs774070119 0.00004
NM_018834.6(MATR3):c.2454T>C (p.Asn818=) rs146550337 0.00004
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399 0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NM_213720.3(CHCHD10):c.262-4C>T rs1021130344 0.00004
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) rs371437007 0.00004
NM_213720.3(CHCHD10):c.42-2A>G rs1354578196 0.00004
NM_001008212.2(OPTN):c.1533-10G>A rs202006990 0.00003
NM_001008212.2(OPTN):c.1533-3C>T rs373981784 0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln) rs550042475 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.275A>T (p.Glu92Val) rs202044898 0.00003
NM_001008212.2(OPTN):c.448C>T (p.Leu150=) rs768270236 0.00003
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu) rs780122817 0.00003
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) rs540943401 0.00003
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=) rs750140541 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.301+12C>G rs141530539 0.00003
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu) rs761423892 0.00003
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His) rs758090054 0.00003
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile) rs200973006 0.00003
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=) rs372518286 0.00003
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) rs781478225 0.00003
NM_003900.5(SQSTM1):c.755-10C>T rs763522925 0.00003
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn) rs774986849 0.00003
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys) rs138928957 0.00003
NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln) rs142318791 0.00003
NM_004082.5(DCTN1):c.1482G>A (p.Ala494=) rs372546194 0.00003
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) rs759306485 0.00003
NM_004082.5(DCTN1):c.1868G>A (p.Arg623Gln) rs763378572 0.00003
NM_004082.5(DCTN1):c.2005C>T (p.Arg669Cys) rs150746209 0.00003
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=) rs147297927 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.2633A>G (p.Tyr878Cys) rs778201974 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.2954A>G (p.Lys985Arg) rs751782015 0.00003
NM_004082.5(DCTN1):c.33+3A>G rs1397714640 0.00003
NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys) rs374419252 0.00003
NM_004082.5(DCTN1):c.3382C>G (p.Pro1128Ala) rs757510484 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.3733A>G (p.Met1245Val) rs969899022 0.00003
NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys) rs538932463 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr) rs771966365 0.00003
NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala) rs371437767 0.00003
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp) rs148810193 0.00003
NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg) rs770153273 0.00003
NM_004082.5(DCTN1):c.645+10G>A rs776017204 0.00003
NM_004082.5(DCTN1):c.72C>T (p.Ala24=) rs368633620 0.00003
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp) rs756611519 0.00003
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu) rs1456089445 0.00003
NM_004738.5(VAPB):c.163A>C (p.Arg55=) rs150761013 0.00003
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp) rs750394268 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.237C>T (p.Gly79=) rs535930927 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_004960.4(FUS):c.452C>T (p.Pro151Leu) rs144342946 0.00003
NM_004960.4(FUS):c.673G>A (p.Gly225Ser) rs551577399 0.00003
NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val) rs778074369 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_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) rs781091660 0.00003
NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val) rs372101503 0.00003
NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp) rs777843655 0.00003
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter) rs1449250083 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.54A>G (p.Lys18=) rs766042571 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.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 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.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_007375.4(TARDBP):c.900A>G (p.Gly300=) rs146402671 0.00003
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys) rs780192375 0.00003
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr) rs755069538 0.00003
NM_013254.4(TBK1):c.1207C>T (p.His403Tyr) rs749709445 0.00003
NM_013254.4(TBK1):c.1521+20C>T rs769754825 0.00003
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala) rs765585935 0.00003
NM_013254.4(TBK1):c.40A>G (p.Ile14Val) rs781325780 0.00003
NM_013254.4(TBK1):c.454G>C (p.Val152Leu) rs202011771 0.00003
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile) rs200758840 0.00003
NM_013254.4(TBK1):c.996T>A (p.Ala332=) rs752407982 0.00003
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly) rs781734842 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.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) rs761725498 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.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.2924C>T (p.Thr975Met) rs200722368 0.00003
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu) rs557074957 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe) rs139559547 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 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.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4338G>A (p.Val1446=) rs777058489 0.00003
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695 0.00003
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) rs376678876 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_015046.7(SETX):c.503G>A (p.Arg168Gln) rs772017103 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.5591A>C (p.Gln1864Pro) rs375747001 0.00003
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala) rs372993859 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_015046.7(SETX):c.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.6829T>C (p.Leu2277=) rs189444354 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_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_018834.6(MATR3):c.1435-8T>C rs1055412692 0.00003
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg) rs750375963 0.00003
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695 0.00003
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030 0.00003
NM_018834.6(MATR3):c.2494-14C>A rs779597861 0.00003
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys) rs768516057 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_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) rs1438034155 0.00003
NM_000454.5(SOD1):c.149del (p.Glu50fs) rs752237082 0.00002
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_000454.5(SOD1):c.448A>G (p.Ile150Val) rs1169917994 0.00002
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr) rs768591421 0.00002
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val) rs900961302 0.00002
NM_001008212.2(OPTN):c.1428T>C (p.His476=) rs767738080 0.00002
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001008212.2(OPTN):c.287G>A (p.Arg96His) rs184561087 0.00002
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val) rs764364218 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.626+5del rs776938424 0.00002
NM_001008212.2(OPTN):c.718C>T (p.Leu240=) rs372486382 0.00002
NM_001008212.2(OPTN):c.882+3G>A rs761196996 0.00002
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu) rs772889843 0.00002
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys) rs376158712 0.00002
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val) rs772122047 0.00002
NM_003900.5(SQSTM1):c.1165+15A>T rs764410841 0.00002
NM_003900.5(SQSTM1):c.1166-1G>A rs529512338 0.00002
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp) rs539942101 0.00002
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=) rs745585269 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser) rs748555662 0.00002
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val) rs1302810798 0.00002
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=) rs1449269769 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.263C>T (p.Ser88Phe) rs763040103 0.00002
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met) rs181263868 0.00002
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val) rs755702835 0.00002
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys) rs548787835 0.00002
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys) rs750256905 0.00002
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp) rs758625124 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.562G>A (p.Val188Met) rs371832577 0.00002
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg) rs368010261 0.00002
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=) rs747314158 0.00002
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys) rs769873457 0.00002
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val) rs762767720 0.00002
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=) rs769297000 0.00002
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro) rs745853858 0.00002
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser) rs1194274800 0.00002
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly) rs148559402 0.00002
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu) rs376459756 0.00002
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr) rs1367793899 0.00002
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr) rs777431896 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_003900.5(SQSTM1):c.969+19C>T rs566253151 0.00002
NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg) rs1299296008 0.00002
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp) rs150368544 0.00002
NM_004082.5(DCTN1):c.1255G>A (p.Ala419Thr) rs922032527 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.1486G>C (p.Val496Leu) rs773897036 0.00002
NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys) rs756634587 0.00002
NM_004082.5(DCTN1):c.167A>G (p.Lys56Arg) rs566433112 0.00002
NM_004082.5(DCTN1):c.1702-7C>T rs554887316 0.00002
NM_004082.5(DCTN1):c.1802G>C (p.Gly601Ala) rs370192633 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.2006G>A (p.Arg669His) rs140523637 0.00002
NM_004082.5(DCTN1):c.21C>T (p.His7=) rs373040626 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile) rs753618444 0.00002
NM_004082.5(DCTN1):c.2303G>A (p.Arg768His) rs368869853 0.00002
NM_004082.5(DCTN1):c.2373C>T (p.Cys791=) rs759688608 0.00002
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys) rs771231109 0.00002
NM_004082.5(DCTN1):c.246T>C (p.Asp82=) rs1323483918 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 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.2753C>A (p.Pro918His) rs771075973 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.2872T>G (p.Ser958Ala) rs753405772 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.3107G>A (p.Arg1036His) rs762382952 0.00002
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp) rs573012389 0.00002
NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val) rs757034536 0.00002
NM_004082.5(DCTN1):c.33+9C>T rs775298728 0.00002
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys) rs121909345 0.00002
NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met) rs376549770 0.00002
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu) rs975026607 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_004082.5(DCTN1):c.3810C>A (p.His1270Gln) rs755013572 0.00002
NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His) rs560344779 0.00002
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln) rs753892865 0.00002
NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu) rs763427780 0.00002
NM_004738.5(VAPB):c.199A>G (p.Ile67Val) rs772975721 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.1204_1206del (p.Ser402del) rs781120756 0.00002
NM_004960.4(FUS):c.1452C>T (p.Tyr484=) rs372721739 0.00002
NM_004960.4(FUS):c.238G>A (p.Gly80Ser) rs776474571 0.00002
NM_004960.4(FUS):c.317C>T (p.Pro106Leu) rs374191107 0.00002
NM_004960.4(FUS):c.648C>T (p.Arg216=) rs556586630 0.00002
NM_004960.4(FUS):c.716A>G (p.Tyr239Cys) rs145013063 0.00002
NM_004960.4(FUS):c.90T>C (p.Ser30=) rs1485377976 0.00002
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg) rs990147591 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.523C>T (p.Arg175Trp) rs780073328 0.00002
NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=) rs762524711 0.00002
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) rs192644838 0.00002
NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp) rs532632647 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.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007126.5(VCP):c.2315+8G>C rs561343814 0.00002
NM_007126.5(VCP):c.233C>G (p.Ser78Cys) rs1252437282 0.00002
NM_007126.5(VCP):c.237T>A (p.Asp79Glu) rs746810092 0.00002
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) rs1329151473 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.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_007126.5(VCP):c.577-10C>T rs778331428 0.00002
NM_007126.5(VCP):c.811+5G>C rs1356010891 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.238+9C>T rs376560308 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln) rs758357594 0.00002
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu) rs748571947 0.00002
NM_013254.4(TBK1):c.1116A>G (p.Lys372=) rs775134475 0.00002
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile) rs1433610854 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_013254.4(TBK1):c.1717C>T (p.Arg573Cys) rs772820487 0.00002
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg) rs375610142 0.00002
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys) rs1366668789 0.00002
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly) rs746971642 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_013444.4(UBQLN2):c.1474G>C (p.Val492Leu) rs756653207 0.00002
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg) rs202132872 0.00002
NM_015046.7(SETX):c.1099-12C>A rs752063617 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) rs769620847 0.00002
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala) rs1481664998 0.00002
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) rs200459144 0.00002
NM_015046.7(SETX):c.2425A>G (p.Ile809Val) rs906452681 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr) rs765768857 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3450A>G (p.Glu1150=) rs771495291 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu) rs773081186 0.00002
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile) rs771168824 0.00002
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala) rs759653127 0.00002
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) rs747804357 0.00002
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr) rs202047872 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.4683G>C (p.Gln1561His) rs772991134 0.00002
NM_015046.7(SETX):c.477T>A (p.Phe159Leu) rs1473646250 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5502C>T (p.His1834=) rs117410554 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5859A>G (p.Pro1953=) rs1423165535 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys) rs747913385 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.855T>C (p.Pro285=) rs141736312 0.00002
NM_015046.7(SETX):c.867G>A (p.Ala289=) rs769799706 0.00002
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_015046.7(SETX):c.963C>T (p.Asn321=) rs750254836 0.00002
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala) rs748098389 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.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr) rs1314919388 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr) rs774158046 0.00002
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364 0.00002
NM_018834.6(MATR3):c.531T>C (p.Asp177=) rs367924183 0.00002
NM_018834.6(MATR3):c.620G>A (p.Arg207His) rs749335257 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.151A>G (p.Thr51Ala) rs1287389347 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_213720.3(CHCHD10):c.323A>C (p.Gln108Pro) rs889489701 0.00002
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) rs766426370 0.00002
NM_000454.5(SOD1):c.159T>C (p.Asp53=) rs1276917683 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 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.269C>T (p.Ala90Val) rs1280042397 0.00001
NM_000454.5(SOD1):c.27G>A (p.Leu9=) rs772764888 0.00001
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000454.5(SOD1):c.358-10T>G rs1197141604 0.00001
NM_000454.5(SOD1):c.358G>C (p.Val120Leu) rs1457889952 0.00001
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) rs1424014997 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.1149-2A>G rs867368757 0.00001
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala) rs751226367 0.00001
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=) rs760304751 0.00001
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly) rs956159636 0.00001
NM_001008212.2(OPTN):c.1612+9C>T rs763985749 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn) rs1487584331 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 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.46C>G (p.Pro16Ala) rs758942502 0.00001
NM_001008212.2(OPTN):c.481G>A (p.Val161Met) rs776058639 0.00001
NM_001008212.2(OPTN):c.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) rs199700857 0.00001
NM_001008212.2(OPTN):c.626+1G>A rs756957223 0.00001
NM_001008212.2(OPTN):c.626+4T>C rs1564360523 0.00001
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu) rs1189662370 0.00001
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) rs775448931 0.00001
NM_001008212.2(OPTN):c.780-2A>C rs768117011 0.00001
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001008212.2(OPTN):c.882+5G>C rs766398912 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 0.00001
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe) rs1833407652 0.00001
NM_001008212.2(OPTN):c.950A>G (p.His317Arg) rs747365111 0.00001
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=) rs982817243 0.00001
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala) rs1250501488 0.00001
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala) rs1355424687 0.00001
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs) rs781417955 0.00001
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=) rs771948860 0.00001
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys) rs535932454 0.00001
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser) rs776303544 0.00001
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=) rs778199086 0.00001
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val) rs1447276382 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1165+1G>A rs796051870 0.00001
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln) rs1391182750 0.00001
NM_003900.5(SQSTM1):c.1166-6C>T rs762322293 0.00001
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val) rs771966860 0.00001
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=) rs766437927 0.00001
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys) rs1471403162 0.00001
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=) rs573881131 0.00001
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr) rs752910741 0.00001
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=) rs987821927 0.00001
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val) rs1241285995 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.205+6C>T rs1286712928 0.00001
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=) rs780842511 0.00001
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=) rs371268375 0.00001
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=) rs148366738 0.00001
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys) rs368853286 0.00001
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro) rs1208284061 0.00001
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His) rs766411872 0.00001
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=) rs150883783 0.00001
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys) rs1295820640 0.00001
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn) rs1181188986 0.00001
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly) rs752438818 0.00001
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) rs886039782 0.00001
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys) rs750784335 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.317G>A (p.Arg106Gln) rs778554903 0.00001
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp) rs771903158 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.361A>G (p.Met121Val) rs1209470881 0.00001
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=) rs768088721 0.00001
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn) rs753212399 0.00001
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=) rs1007964808 0.00001
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile) rs1309887153 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp) rs1442832120 0.00001
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=) rs769497182 0.00001
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly) rs377198490 0.00001
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=) rs1387392776 0.00001
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg) rs200731802 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.557G>A (p.Arg186Gln) rs778537429 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 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.686C>T (p.Ser229Leu) rs1397353855 0.00001
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu) rs757778292 0.00001
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=) rs889431769 0.00001
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn) rs1325278483 0.00001
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=) rs774460525 0.00001
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu) rs1353365075 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.769A>G (p.Ile257Val) rs778679611 0.00001
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr) rs745788957 0.00001
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg) rs763179729 0.00001
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val) rs753685955 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.866G>A (p.Cys289Tyr) rs757493001 0.00001
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=) rs755859379 0.00001
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val) rs541356917 0.00001
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=) rs766129922 0.00001
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg) rs1460912506 0.00001
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser) rs1225559170 0.00001
NM_003900.5(SQSTM1):c.970-14G>A rs761682844 0.00001
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser) rs1156716975 0.00001
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter) rs1185406298 0.00001
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu) rs755411592 0.00001
NM_004082.5(DCTN1):c.1002G>A (p.Glu334=) rs757723673 0.00001
NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser) rs1674769234 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.1105C>T (p.Arg369Cys) rs149499018 0.00001
NM_004082.5(DCTN1):c.1128-3C>G rs914567815 0.00001
NM_004082.5(DCTN1):c.1155G>A (p.Lys385=) rs763048243 0.00001
NM_004082.5(DCTN1):c.1171C>A (p.Leu391Ile) rs1282851211 0.00001
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys) rs1040712616 0.00001
NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg) rs745458066 0.00001
NM_004082.5(DCTN1):c.1261A>G (p.Ser421Gly) rs1417901024 0.00001
NM_004082.5(DCTN1):c.1288-18A>G rs770601874 0.00001
NM_004082.5(DCTN1):c.1288-6A>G rs1236101222 0.00001
NM_004082.5(DCTN1):c.1364G>A (p.Arg455His) rs763277715 0.00001
NM_004082.5(DCTN1):c.1420C>T (p.Leu474=) rs139100051 0.00001
NM_004082.5(DCTN1):c.1430A>G (p.Asn477Ser) rs756081164 0.00001
NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp) rs759801622 0.00001
NM_004082.5(DCTN1):c.1479C>T (p.Gly493=) rs754282487 0.00001
NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val) rs761331951 0.00001
NM_004082.5(DCTN1):c.1483C>T (p.Arg495Trp) rs184840910 0.00001
NM_004082.5(DCTN1):c.1489C>T (p.Arg497Cys) rs1327106238 0.00001
NM_004082.5(DCTN1):c.1505G>A (p.Arg502His) rs780066070 0.00001
NM_004082.5(DCTN1):c.1526C>T (p.Thr509Met) rs967117932 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.1594C>G (p.Arg532Gly) rs563630664 0.00001
NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg) rs4994503 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.1774A>G (p.Met592Val) rs778331682 0.00001
NM_004082.5(DCTN1):c.177C>T (p.Gly59=) rs72466484 0.00001
NM_004082.5(DCTN1):c.1780G>C (p.Asp594His) rs1200525088 0.00001
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn) rs1243051229 0.00001
NM_004082.5(DCTN1):c.1793G>A (p.Arg598Gln) rs779723221 0.00001
NM_004082.5(DCTN1):c.1816G>A (p.Val606Ile) rs375778151 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp) rs764568642 0.00001
NM_004082.5(DCTN1):c.1944G>T (p.Glu648Asp) rs1674555206 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.2083C>T (p.His695Tyr) rs756952260 0.00001
NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu) rs1309359471 0.00001
NM_004082.5(DCTN1):c.2205T>G (p.Leu735=) rs773099597 0.00001
NM_004082.5(DCTN1):c.2253+4A>T rs1674495774 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.2296C>T (p.Arg766Trp) rs766338463 0.00001
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln) rs200611961 0.00001
NM_004082.5(DCTN1):c.2315A>G (p.Gln772Arg) rs1648520142 0.00001
NM_004082.5(DCTN1):c.2341G>T (p.Ala781Ser) rs1266701728 0.00001
NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly) rs752889408 0.00001
NM_004082.5(DCTN1):c.2384G>A (p.Arg795His) rs377530504 0.00001
NM_004082.5(DCTN1):c.2396A>G (p.Lys799Arg) rs773793200 0.00001
NM_004082.5(DCTN1):c.2411G>A (p.Arg804Gln) rs1443384895 0.00001
NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met) rs1313684238 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.2467G>A (p.Val823Ile) rs753992154 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.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2585T>C (p.Leu862Pro) rs777542005 0.00001
NM_004082.5(DCTN1):c.258C>T (p.Gly86=) rs140054458 0.00001
NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr) rs72466488 0.00001
NM_004082.5(DCTN1):c.2622C>T (p.Ser874=) rs1367060889 0.00001
NM_004082.5(DCTN1):c.2629-4G>A rs201090138 0.00001
NM_004082.5(DCTN1):c.2639C>T (p.Thr880Ile) rs758789274 0.00001
NM_004082.5(DCTN1):c.2640C>T (p.Thr880=) rs1453065894 0.00001
NM_004082.5(DCTN1):c.2660A>C (p.Glu887Ala) rs1166896176 0.00001
NM_004082.5(DCTN1):c.2668C>T (p.Arg890Cys) rs767379191 0.00001
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=) rs1253918840 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 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.2779C>T (p.Arg927Trp) rs758168607 0.00001
NM_004082.5(DCTN1):c.279+10C>T rs1433805841 0.00001
NM_004082.5(DCTN1):c.2795G>A (p.Arg932His) rs767725965 0.00001
NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys) rs780644304 0.00001
NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met) rs754893423 0.00001
NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp) rs756183069 0.00001
NM_004082.5(DCTN1):c.2938T>C (p.Leu980=) rs370060938 0.00001
NM_004082.5(DCTN1):c.2969G>A (p.Arg990His) rs369129714 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.3152C>T (p.Pro1051Leu) rs746148076 0.00001
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp) rs764918482 0.00001
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) rs759276455 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.3199G>T (p.Glu1067Ter) rs376996779 0.00001
NM_004082.5(DCTN1):c.3211+17G>A rs373651754 0.00001
NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met) rs764028925 0.00001
NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) rs201918007 0.00001
NM_004082.5(DCTN1):c.3254G>A (p.Gly1085Glu) rs1274754432 0.00001
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) rs769145486 0.00001
NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala) rs749776779 0.00001
NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln) rs749196418 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.3322C>G (p.Gln1108Glu) rs374567374 0.00001
NM_004082.5(DCTN1):c.3373T>A (p.Ser1125Thr) rs1191490257 0.00001
NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val) rs534309303 0.00001
NM_004082.5(DCTN1):c.3441G>A (p.Ala1147=) rs760282295 0.00001
NM_004082.5(DCTN1):c.3448C>T (p.Arg1150Cys) rs1194029274 0.00001
NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His) rs771822061 0.00001
NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile) rs373550911 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.3611A>G (p.Asp1204Gly) rs1180149480 0.00001
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=) rs1032786897 0.00001
NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His) rs554008879 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.3712C>G (p.Gln1238Glu) rs778307537 0.00001
NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr) rs748860016 0.00001
NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala) rs745657856 0.00001
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met) rs752784218 0.00001
NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr) rs773727370 0.00001
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=) rs886056328 0.00001
NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser) rs772655253 0.00001
NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp) rs768025820 0.00001
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys) rs766653950 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.414+6G>A rs767853891 0.00001
NM_004082.5(DCTN1):c.426C>T (p.Ala142=) rs766656845 0.00001
NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter) rs781290307 0.00001
NM_004082.5(DCTN1):c.42C>T (p.Ser14=) rs535554555 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln) rs1359633006 0.00001
NM_004082.5(DCTN1):c.458C>T (p.Thr153Met) rs1052858105 0.00001
NM_004082.5(DCTN1):c.459G>A (p.Thr153=) rs773422770 0.00001
NM_004082.5(DCTN1):c.461G>A (p.Arg154His) rs1398619239 0.00001
NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu) rs1064797035 0.00001
NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu) rs916359967 0.00001
NM_004082.5(DCTN1):c.569C>T (p.Pro190Leu) rs765192491 0.00001
NM_004082.5(DCTN1):c.585C>T (p.Ile195=) rs1016485773 0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) rs773420384 0.00001
NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu) rs1461654392 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.674G>A (p.Arg225Gln) rs1411382364 0.00001
NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn) rs539287431 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.821G>A (p.Arg274Gln) rs1379544377 0.00001
NM_004082.5(DCTN1):c.823C>T (p.Arg275Cys) rs775294408 0.00001
NM_004082.5(DCTN1):c.843+5G>T rs757238618 0.00001
NM_004082.5(DCTN1):c.843+9C>T rs1031141306 0.00001
NM_004082.5(DCTN1):c.844-5C>G rs1435999777 0.00001
NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp) rs1042083899 0.00001
NM_004082.5(DCTN1):c.90C>T (p.Gly30=) rs932576887 0.00001
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys) rs751177222 0.00001
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly) rs748371538 0.00001
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys) rs1475473253 0.00001
NM_004738.5(VAPB):c.315A>G (p.Val105=) rs757744162 0.00001
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) rs777316448 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.472A>C (p.Ser158Arg) rs773800478 0.00001
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) rs772254840 0.00001
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) rs1989149258 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.622A>G (p.Ile208Val) rs376121617 0.00001
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) rs1989222522 0.00001
NM_004738.5(VAPB):c.681G>A (p.Leu227=) rs778389082 0.00001
NM_004738.5(VAPB):c.699C>T (p.Ile233=) rs372088559 0.00001
NM_004960.4(FUS):c.*108C>T rs780606789 0.00001
NM_004960.4(FUS):c.1147C>T (p.Arg383Cys) rs776191869 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.1394G>A (p.Gly465Glu) rs141684472 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.1544G>T (p.Gly515Val) rs1307257028 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_004960.4(FUS):c.174T>C (p.Tyr58=) rs780887876 0.00001
NM_004960.4(FUS):c.181A>G (p.Ser61Gly) rs1481060391 0.00001
NM_004960.4(FUS):c.182G>A (p.Ser61Asn) rs777365216 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.265T>A (p.Ser89Thr) rs372638663 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.688G>T (p.Gly230Cys) rs748374535 0.00001
NM_004960.4(FUS):c.701G>A (p.Arg234His) rs749434237 0.00001
NM_004960.4(FUS):c.99C>T (p.Tyr33=) rs371503663 0.00001
NM_005866.4(SIGMAR1):c.*51G>T rs768783740 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.208C>T (p.Pro70Ser) rs777565671 0.00001
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) rs773344340 0.00001
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) rs1278952640 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.344G>T (p.Gly115Val) rs1241574813 0.00001
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys) rs778413865 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.452C>T (p.Thr151Met) rs745503254 0.00001
NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=) rs751571040 0.00001
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val) rs202244713 0.00001
NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser) rs1411120179 0.00001
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) rs149409262 0.00001
NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn) rs892812356 0.00001
NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met) rs1396152845 0.00001
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) rs541996857 0.00001
NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=) rs779179488 0.00001
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe) rs754118993 0.00001
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro) rs1254998914 0.00001
NM_007126.5(VCP):c.1081+8C>T rs763106348 0.00001
NM_007126.5(VCP):c.1162A>G (p.Met388Val) rs761895823 0.00001
NM_007126.5(VCP):c.1211A>C (p.His404Pro) rs1359620830 0.00001
NM_007126.5(VCP):c.1294C>G (p.Leu432Val) rs771751916 0.00001
NM_007126.5(VCP):c.130-3C>T rs767838037 0.00001
NM_007126.5(VCP):c.1317C>T (p.Ala439=) rs1009713233 0.00001
NM_007126.5(VCP):c.1327A>C (p.Asn443His) rs770514866 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.1402G>A (p.Val468Met) rs779392075 0.00001
NM_007126.5(VCP):c.1407A>G (p.Val469=) rs761430933 0.00001
NM_007126.5(VCP):c.1437C>T (p.Ile479=) rs778069672 0.00001
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys) rs752765916 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 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.1768A>G (p.Ile590Val) rs1255802734 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.1973A>C (p.Lys658Thr) rs1284380722 0.00001
NM_007126.5(VCP):c.1985G>A (p.Arg662His) rs762185724 0.00001
NM_007126.5(VCP):c.1996G>A (p.Val666Ile) rs754268174 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.2126G>A (p.Arg709Gln) rs746617777 0.00001
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln) rs779670266 0.00001
NM_007126.5(VCP):c.213C>T (p.Val71=) rs1195805928 0.00001
NM_007126.5(VCP):c.2160+8T>G rs564249854 0.00001
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys) rs758602597 0.00001
NM_007126.5(VCP):c.2316-8G>A rs1440311672 0.00001
NM_007126.5(VCP):c.278G>A (p.Arg93His) rs779959657 0.00001
NM_007126.5(VCP):c.284G>A (p.Arg95His) rs758169026 0.00001
NM_007126.5(VCP):c.302+12G>A rs1293215454 0.00001
NM_007126.5(VCP):c.303-3C>T rs1183711292 0.00001
NM_007126.5(VCP):c.312A>G (p.Pro104=) rs1484541220 0.00001
NM_007126.5(VCP):c.331G>A (p.Gly111Ser) rs752038734 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 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.41C>T (p.Thr14Ile) rs1219381953 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.451A>G (p.Ile151Val) rs367881889 0.00001
NM_007126.5(VCP):c.465T>G (p.Arg155=) rs765140312 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 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.62A>G (p.Asn21Ser) rs1409460709 0.00001
NM_007126.5(VCP):c.675A>G (p.Arg225=) rs780139186 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 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.73C>T (p.Arg25Trp) rs920962883 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.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.1015A>G (p.Met339Val) rs1162800752 0.00001
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys) rs80356732 0.00001
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) rs80356741 0.00001
NM_007375.4(TARDBP):c.162C>T (p.Val54=) rs751073315 0.00001
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser) rs142913423 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.550C>A (p.Gln184Lys) rs956150244 0.00001
NM_007375.4(TARDBP):c.622C>A (p.Arg208=) rs1643615862 0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser) rs1419402299 0.00001
NM_007375.4(TARDBP):c.931A>G (p.Met311Val) rs80356725 0.00001
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr) rs763874949 0.00001
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter) rs1328949478 0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp) rs753595352 0.00001
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) rs142030898 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.1443A>T (p.Val481=) rs1396706988 0.00001
NM_013254.4(TBK1):c.1476G>A (p.Ala492=) rs139653737 0.00001
NM_013254.4(TBK1):c.1505A>G (p.His502Arg) rs1206925876 0.00001
NM_013254.4(TBK1):c.1584A>G (p.Pro528=) rs1592375893 0.00001
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val) rs768023625 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.301C>G (p.Pro101Ala) rs371955059 0.00001
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln) rs1337698475 0.00001
NM_013254.4(TBK1):c.381A>C (p.Arg127=) rs749847349 0.00001
NM_013254.4(TBK1):c.421dup (p.Ile141fs) rs1565814492 0.00001
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala) rs41292021 0.00001
NM_013254.4(TBK1):c.438G>A (p.Gly146=) rs751439290 0.00001
NM_013254.4(TBK1):c.51A>G (p.Gln17=) rs769584803 0.00001
NM_013254.4(TBK1):c.540+8_540+9del rs761043079 0.00001
NM_013254.4(TBK1):c.683G>A (p.Arg228His) rs748622208 0.00001
NM_013254.4(TBK1):c.734C>T (p.Ala245Val) rs751890932 0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241 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_013254.4(TBK1):c.962C>T (p.Ala321Val) rs762705031 0.00001
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg) rs1243726473 0.00001
NM_013444.4(UBQLN2):c.1329A>G (p.Leu443=) rs766621093 0.00001
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp) rs1343347647 0.00001
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr) rs1293533801 0.00001
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln) rs1569254665 0.00001
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=) rs1271440811 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_013444.4(UBQLN2):c.717G>A (p.Arg239=) rs762742451 0.00001
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) rs1330837640 0.00001
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro) rs1459753673 0.00001
NM_014043.4(CHMP2B):c.126+4A>G rs369912013 0.00001
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg) rs143800051 0.00001
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu) rs745754634 0.00001
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp) rs553846327 0.00001
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=) rs1364419230 0.00001
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met) rs1295215037 0.00001
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu) rs369257752 0.00001
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala) rs999767103 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr) rs778488721 0.00001
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) rs377301250 0.00001
NM_015046.7(SETX):c.1479C>T (p.Ala493=) rs771289068 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979 0.00001
NM_015046.7(SETX):c.167T>C (p.Phe56Ser) rs1032816797 0.00001
NM_015046.7(SETX):c.1714C>G (p.Leu572Val) rs1482836809 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.1810A>G (p.Thr604Ala) rs957434595 0.00001
NM_015046.7(SETX):c.1833A>G (p.Ala611=) rs751829537 0.00001
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys) rs773035724 0.00001
NM_015046.7(SETX):c.1889C>T (p.Thr630Met) rs749132753 0.00001
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu) rs1015257691 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.208A>G (p.Ile70Val) rs747469176 0.00001
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu) rs776432277 0.00001
NM_015046.7(SETX):c.2119A>G (p.Ile707Val) rs1419145387 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) rs780121182 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2427C>G (p.Ile809Met) rs765654690 0.00001
NM_015046.7(SETX):c.245G>A (p.Gly82Glu) rs201864041 0.00001
NM_015046.7(SETX):c.2552A>T (p.Asp851Val) rs375242350 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) rs761943404 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.27A>G (p.Pro9=) rs761487448 0.00001
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala) rs1375463032 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.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015046.7(SETX):c.3018A>C (p.Gly1006=) rs997364371 0.00001
NM_015046.7(SETX):c.301A>G (p.Ile101Val) rs376848704 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile) rs773068299 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.304A>G (p.Thr102Ala) rs770962447 0.00001
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn) rs1846998334 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.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3351T>C (p.Thr1117=) rs1846972454 0.00001
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp) rs200072123 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp) rs375796832 0.00001
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939 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.3680G>T (p.Cys1227Phe) rs750526955 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.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) rs773999398 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) rs756823072 0.00001
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg) rs778111855 0.00001
NM_015046.7(SETX):c.4283A>G (p.His1428Arg) rs778236359 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) rs759545112 0.00001
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr) rs772466321 0.00001
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839 0.00001
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val) rs558075773 0.00001
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668 0.00001
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys) rs752179261 0.00001
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu) rs1165229035 0.00001
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082 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.4885A>G (p.Lys1629Glu) rs1362908917 0.00001
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) rs1466879487 0.00001
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro) rs142509544 0.00001
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser) rs567825753 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.5008C>A (p.Gln1670Lys) rs762808367 0.00001
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn) rs770527045 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr) rs766799310 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.5431G>A (p.Val1811Met) rs947336270 0.00001
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile) rs763771426 0.00001
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu) rs1249423284 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5548+17G>A rs1313333580 0.00001
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg) rs377620145 0.00001
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser) rs747493129 0.00001
NM_015046.7(SETX):c.5661A>G (p.Gln1887=) rs1589671916 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.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 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.598A>G (p.Ile200Val) rs1368588434 0.00001
NM_015046.7(SETX):c.6024T>C (p.Pro2008=) rs1045096306 0.00001
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val) rs546932016 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.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 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.64G>A (p.Ala22Thr) rs756600708 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.6678C>A (p.Asp2226Glu) rs752107891 0.00001
NM_015046.7(SETX):c.6771G>A (p.Gln2257=) rs778895541 0.00001
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889 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.6838A>G (p.Asn2280Asp) rs1843269972 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly) rs370135596 0.00001
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu) rs781671592 0.00001
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) rs141657462 0.00001
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met) rs201629099 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg) rs183776349 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr) rs1842557730 0.00001
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg) rs755711135 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.7666T>A (p.Trp2556Arg) rs756715534 0.00001
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser) rs1240232139 0.00001
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys) rs145345675 0.00001
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala) rs905773255 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val) rs144706487 0.00001
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly) rs779793402 0.00001
NM_015046.7(SETX):c.808A>G (p.Ile270Val) rs1387745582 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NM_015046.7(SETX):c.823G>A (p.Glu275Lys) rs901741485 0.00001
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) rs775579797 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.964G>A (p.Ala322Thr) rs540348550 0.00001
NM_015046.7(SETX):c.980A>T (p.Glu327Val) rs1315992594 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 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.1139A>G (p.Asn380Ser) rs948428305 0.00001
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser) rs1755320528 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr) rs779612686 0.00001
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala) rs781213918 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.1435-10T>C rs772340385 0.00001
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu) rs777025841 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.1636A>G (p.Met546Val) rs1412628714 0.00001
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile) rs748592981 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr) rs1488614478 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del) rs1186297721 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.1949T>C (p.Met650Thr) rs1176347654 0.00001
NM_018834.6(MATR3):c.1953T>C (p.Leu651=) rs770765421 0.00001
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val) rs1261252930 0.00001
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu) rs1228960452 0.00001
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu) rs759928245 0.00001
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698 0.00001
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser) rs1468138513 0.00001
NM_018834.6(MATR3):c.2181C>T (p.Asn727=) rs772833565 0.00001
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly) rs538917496 0.00001
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser) rs1452954379 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.2357C>G (p.Pro786Arg) rs765284792 0.00001
NM_018834.6(MATR3):c.2372-3dup rs1561945483 0.00001
NM_018834.6(MATR3):c.2460T>C (p.His820=) rs1271177846 0.00001
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr) rs912142064 0.00001
NM_018834.6(MATR3):c.2538A>G (p.Glu846=) rs747688305 0.00001
NM_018834.6(MATR3):c.256A>G (p.Ile86Val) rs201277902 0.00001
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys) rs1327023414 0.00001
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser) rs745440760 0.00001
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly) rs1255035245 0.00001
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr) rs1433371817 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 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.689G>T (p.Cys230Phe) rs200871699 0.00001
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala) rs774478774 0.00001
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn) rs762374587 0.00001
NM_018834.6(MATR3):c.898G>A (p.Val300Ile) rs1307308858 0.00001
NM_018834.6(MATR3):c.960G>T (p.Gln320His) rs773617455 0.00001
NM_018834.6(MATR3):c.974+7G>A rs1443299870 0.00001
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser) rs1259379217 0.00001
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg) rs945463572 0.00001
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) rs751472303 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.214G>A (p.Ala72Thr) rs542541060 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.354C>A (p.Asp118Glu) rs780959799 0.00001
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe) rs1358742335 0.00001
NM_213720.3(CHCHD10):c.372C>T (p.Gly124=) rs372902325 0.00001
NM_213720.3(CHCHD10):c.408T>C (p.His136=) rs113677828 0.00001
NM_213720.3(CHCHD10):c.409+11G>A rs745652443 0.00001
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) rs1197865297 0.00001
NM_213720.3(CHCHD10):c.42-8C>T rs1191330602 0.00001
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser) rs927168789 0.00001
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val) rs1244878740 0.00001
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser) rs1297070374 0.00001
NC_000002.11:g.(?_74588271)_(74607174_?)del
NC_000002.11:g.(?_74588626)_(74607164_?)dup
NC_000002.11:g.(?_74597072)_(74607164_?)dup
NC_000002.12:g.74371167CCT[3]
NC_000003.11:g.(?_87276673)_(87325612_?)del
NC_000005.10:g.(?_179836426)_(179836603_?)del
NC_000005.9:g.(?_138608441)_(138668366_?)del
NC_000005.9:g.(?_138643105)_(138644036_?)dup
NC_000005.9:g.(?_138643105)_(138665084_?)dup
NC_000005.9:g.(?_178413111)_(179263593_?)dup
NC_000005.9:g.(?_178770758)_(179263603_?)dup
NC_000005.9:g.(?_179260012)_(179260802_?)del
NC_000005.9:g.(?_179260567)_(179263593_?)dup
NC_000005.9:g.(?_179263416)_(179263593_?)del
NC_000009.11:g.(?_135156834)_(135156981_?)del
NC_000009.11:g.(?_135201691)_(135210134_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)dup
NC_000009.11:g.(?_32453279)_(35068379_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34458984)_(36277059_?)dup
NC_000009.11:g.(?_34458994)_(35072710_?)dup
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NC_000009.12:g.34637993_34637994delinsAA rs371780375
NC_000010.10:g.(?_12833157)_(13178866_?)del
NC_000010.10:g.(?_13151123)_(13154655_?)dup
NC_000010.10:g.(?_13151123)_(13158360_?)del
NC_000010.10:g.(?_13151123)_(13178866_?)del
NC_000010.10:g.(?_13152254)_(13161060_?)del
NC_000010.10:g.(?_13152353)_(13162081_?)del
NC_000010.10:g.(?_13154433)_(13161060_?)del
NC_000010.10:g.(?_13158247)_(13158360_?)del
NC_000010.10:g.(?_13158247)_(13169923_?)dup
NC_000010.10:g.(?_13160868)_(13161060_?)del
NC_000010.10:g.(?_13160868)_(13161060_?)dup
NC_000010.10:g.(?_13164365)_(13168059_?)del
NC_000010.11:g.(?_13109103)_(13136886_?)del
NC_000010.11:g.(?_13109113)_(13112645_?)del
NC_000010.11:g.(?_13109123)_(13183100_?)del
NC_000010.11:g.(?_13116257)_(13116350_?)del
NC_000010.11:g.(?_13118878)_(13119050_?)del
NC_000010.11:g.13122383AG[1] rs757559365
NC_000012.11:g.(?_64849651)_(64854129_?)del
NC_000012.11:g.(?_64875602)_(64879817_?)del
NC_000016.10:g.(?_31182388)_(31194881_?)dup
NC_000016.10:g.31184376GAGGTG[6]
NC_000020.10:g.(?_57009638)_(57019291_?)dup
NC_000020.11:g.(?_58389109)_(58389527_?)del
NC_000021.8:g.(?_32439271)_(39212984_?)dup
NC_000022.10:g.(?_24108011)_(24110169_?)dup
NC_000022.10:g.(?_24108174)_(24110081_?)dup
NC_000022.10:g.(?_24108194)_(24108482_?)del
NC_000022.10:g.(?_24109541)_(24110061_?)del
NC_000022.10:g.(?_24109541)_(24110081_?)del
NC_000022.11:g.(?_23765824)_(23767603_?)del
NC_000022.11:g.(?_23767364)_(23767982_?)del
NM_000454.5(SOD1):c.*273_*276del rs906761540
NM_000454.5(SOD1):c.106A>T (p.Ile36Phe) rs1057524474
NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) rs121912434
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.143T>C (p.Val48Ala) rs1568809169
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup) rs2123431926
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys) rs1568809178
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.169+52_169+58del rs541000032
NM_000454.5(SOD1):c.16G>A (p.Val6Met)
NM_000454.5(SOD1):c.170-11C>T
NM_000454.5(SOD1):c.170-19TTC[2]
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
NM_000454.5(SOD1):c.17T>C (p.Val6Ala) rs2123427988
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
NM_000454.5(SOD1):c.19T>A (p.Cys7Ser) rs1312702973
NM_000454.5(SOD1):c.19T>G (p.Cys7Gly) rs1312702973
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly) rs1457291290
NM_000454.5(SOD1):c.216C>G (p.His72Gln) rs368042695
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg) rs1555836720
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) rs1601157750
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
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.240-3T>C
NM_000454.5(SOD1):c.240-6T>A rs2123435321
NM_000454.5(SOD1):c.240-9_240-6del
NM_000454.5(SOD1):c.241C>T (p.His81Tyr)
NM_000454.5(SOD1):c.242A>G (p.His81Arg) rs121912458
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser) rs121912436
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.25C>G (p.Leu9Val) rs1568807333
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.262G>A (p.Val88Met) rs1568810641
NM_000454.5(SOD1):c.263T>C (p.Val88Ala) rs1339283341
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)
NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) rs121912437
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp) rs121912438
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)
NM_000454.5(SOD1):c.287C>T (p.Ala96Val) rs1568810690
NM_000454.5(SOD1):c.288C>T (p.Ala96=)
NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
NM_000454.5(SOD1):c.297T>C (p.Ser99=)
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys) rs76731700
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)
NM_000454.5(SOD1):c.304G>C (p.Asp102His) rs1568810715
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) rs1378590183
NM_000454.5(SOD1):c.318A>T (p.Ser106=)
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.5(SOD1):c.319C>T (p.Leu107Phe) rs121912440
NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del) rs2123435528
NM_000454.5(SOD1):c.321C>T (p.Leu107=)
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg) rs1568810758
NM_000454.5(SOD1):c.326_328del (p.Gly109del) rs2123435554
NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.5(SOD1):c.342T>G (p.Ile114Met)
NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.346C>T (p.Arg116Cys) rs1301635320
NM_000454.5(SOD1):c.347G>A (p.Arg116His)
NM_000454.5(SOD1):c.351A>C (p.Thr117=)
NM_000454.5(SOD1):c.352C>G (p.Leu118Val) rs199474723
NM_000454.5(SOD1):c.357+2dup
NM_000454.5(SOD1):c.358-17_358-15del rs774491046
NM_000454.5(SOD1):c.374A>G (p.Asp125Gly) rs1568811366
NM_000454.5(SOD1):c.374A>T (p.Asp125Val) rs1568811366
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) rs121912456
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
NM_000454.5(SOD1):c.387A>G (p.Lys129=)
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del) rs1568811423
NM_000454.5(SOD1):c.39C>T (p.Gly13=)
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
NM_000454.5(SOD1):c.408A>G (p.Thr136=)
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.414A>G (p.Thr138=)
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu) rs1568811464
NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys) rs1804449
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
NM_000454.5(SOD1):c.425G>T (p.Gly142Val)
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.437C>T (p.Ala146Val) rs1131690781
NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)
NM_000454.5(SOD1):c.43G>A (p.Val15Met) rs1568807400
NM_000454.5(SOD1):c.43G>C (p.Val15Leu) rs1568807400
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp) rs1555836950
NM_000454.5(SOD1):c.444T>C (p.Gly148=)
NM_000454.5(SOD1):c.445G>A (p.Val149Ile)
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
NM_000454.5(SOD1):c.44T>G (p.Val15Gly) rs1202989817
NM_000454.5(SOD1):c.450T>C (p.Ile150=)
NM_000454.5(SOD1):c.455T>G (p.Ile152Ser) rs121912449
NM_000454.5(SOD1):c.49G>T (p.Gly17Cys) rs121912453
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000454.5(SOD1):c.55A>T (p.Ile19Phe)
NM_000454.5(SOD1):c.56T>C (p.Ile19Thr) rs1601153438
NM_000454.5(SOD1):c.59A>T (p.Asn20Ile)
NM_000454.5(SOD1):c.60T>C (p.Asn20=)
NM_000454.5(SOD1):c.62T>G (p.Phe21Cys) rs1555836169
NM_000454.5(SOD1):c.63C>G (p.Phe21Leu) rs1555836170
NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu) rs1169198442
NM_000454.5(SOD1):c.69G>C (p.Gln23His) rs1424217272
NM_000454.5(SOD1):c.72+20C>T
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_000454.5(SOD1):c.87A>G (p.Pro29=)
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn) rs2123431867
NM_000454.5(SOD1):c.96G>A (p.Val32=)
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser) rs1248850820
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
NM_001008212.2(OPTN):c.1149-13T>A
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) rs774772178
NM_001008212.2(OPTN):c.1242+6C>T rs906152658
NM_001008212.2(OPTN):c.1243-11T>G
NM_001008212.2(OPTN):c.1243-4T>G
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) rs1588449569
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg) rs1045159479
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
NM_001008212.2(OPTN):c.1401+1G>A rs1370982012
NM_001008212.2(OPTN):c.1401+9C>T
NM_001008212.2(OPTN):c.1402-11del
NM_001008212.2(OPTN):c.1402-3C>G rs1588452749
NM_001008212.2(OPTN):c.1402-7C>T
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln) rs2131528196
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu) rs1363384405
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) rs1564354765
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
NM_001008212.2(OPTN):c.1532+14A>G
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
NM_001008212.2(OPTN):c.156C>T (p.His52=)
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer) rs1446908199
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968
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.1613-1G>A
NM_001008212.2(OPTN):c.1613-3C>T rs2131534998
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) rs967459877
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu) rs2131535039
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=) rs767360238
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp) rs767360238
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=) rs1833710699
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter) rs1275810602
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr) rs1564370960
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
NM_001008212.2(OPTN):c.261G>A (p.Glu87=) rs749333165
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
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.369+2T>C
NM_001008212.2(OPTN):c.370-13T>C rs1410187067
NM_001008212.2(OPTN):c.370-1G>A rs2131488754
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro) rs369071606
NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr) rs1269604352
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala) rs372714385
NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
NM_001008212.2(OPTN):c.435C>T (p.Thr145=) rs1042488570
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp) rs113811959
NM_001008212.2(OPTN):c.490C>T (p.Leu164=)
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
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.553-6_553-5delinsGT
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser) rs1833208430
NM_001008212.2(OPTN):c.612A>G (p.Thr204=) rs1588441388
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
NM_001008212.2(OPTN):c.626+17T>A
NM_001008212.2(OPTN):c.626+18C>T
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
NM_001008212.2(OPTN):c.627-16C>T
NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr) rs1450047435
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
NM_001008212.2(OPTN):c.678C>T (p.Phe226=) rs560438634
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) rs760339006
NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.779+8A>G
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
NM_001008212.2(OPTN):c.780-1G>C rs759311192
NM_001008212.2(OPTN):c.780-3C>T
NM_001008212.2(OPTN):c.78C>T (p.His26=) rs1588433321
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
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.847G>C (p.Glu283Gln) rs1833371043
NM_001008212.2(OPTN):c.882+19C>T
NM_001008212.2(OPTN):c.882+20G>A
NM_001008212.2(OPTN):c.882+2_882+3del
NM_001008212.2(OPTN):c.882+5G>A
NM_001008212.2(OPTN):c.883-10C>T
NM_001008212.2(OPTN):c.883-6T>C rs1588446686
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys) rs1833407271
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001008212.2(OPTN):c.924T>G (p.Ser308=)
NM_001008212.2(OPTN):c.949C>G (p.His317Asp) rs1387105883
NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
NM_001008212.2(OPTN):c.964= (p.Glu322=)
NM_001008212.2(OPTN):c.97G>C (p.Asp33His)
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly) rs1564364468
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) rs778911925
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.*2_*4del (p.Ter441=) rs765964997
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn) rs1554091442
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln) rs1554091448
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr) rs774512680
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=) rs2113512674
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln) rs765610848
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) rs765610848
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs) rs1758356210
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu) rs2113512735
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val) rs2113512757
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=) rs2113512810
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys) rs1582022482
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe) rs2113512860
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=) rs569052431
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=) rs778833279
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu) rs1298281008
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=) rs944423329
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg) rs2113513106
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
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.1166-14_1166-11del rs538853972
NM_003900.5(SQSTM1):c.1166-20C>T
NM_003900.5(SQSTM1):c.1166-2A>G
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr) rs2113524011
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=) rs1440412378
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs) rs1758558921
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn) rs2113524028
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=) rs1449666849
NM_003900.5(SQSTM1):c.1181_*644del (p.Leu394fs)
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr) rs1471635040
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter) rs1254158201
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu) rs201795943
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr) rs1247551175
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=) rs368933511
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser) rs1377640860
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=) rs1554092111
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=) rs1383894920
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr) rs2113524491
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro) rs770118706
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His) rs2113524577
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
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.133G>C (p.Glu45Gln)
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
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.16G>T (p.Val6Leu) rs778461636
NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del) rs2113480023
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser) rs1411304344
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=) rs767340839
NM_003900.5(SQSTM1):c.185_205+48delinsCACTACAGAGGTCCTGGTCTGTGCGGGGGCCTCCAGGCCTTCTGCGCTGCAGCCACTGCGCTGTGTCCCCTGTGATTGTCAATCTCCCTAAAGATGGCCCAGAGCAGTGCGGCCTGAATC
NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)
NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
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+2T>C
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.206-2A>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.206-9A>G rs2113484953
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp) rs2113484986
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala) rs1757838607
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter) rs1425863340
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=) rs752464933
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile) rs1274176534
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+1G>T rs2113485289
NM_003900.5(SQSTM1):c.301+20G>A
NM_003900.5(SQSTM1):c.301+6G>C
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.309_311del (p.Glu104del) rs2113487449
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
NM_003900.5(SQSTM1):c.327C>T (p.His109=) rs2113487546
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
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.347A>G (p.Glu116Gly) rs1757886934
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile) rs1562654519
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val) rs866832054
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=) rs2113487764
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met) rs1582007866
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr) rs753212399
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu) rs372480231
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=) rs2113487897
NM_003900.5(SQSTM1):c.415del (p.Arg139fs) rs2113487920
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=) rs374417389
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=) rs35266480
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln) rs118160361
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=) rs1284664878
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) rs1331685476
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys) rs1229776140
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala) rs1392938040
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.539C>T (p.Ser180Leu)
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn) rs1757907176
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg) rs1562655554
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=) rs1582002994
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg) rs373585056
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val) rs377371202
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=) rs2113489068
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
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.620G>A (p.Ser207Asn)
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr) rs1256909021
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu) rs1757909856
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His) rs1303154345
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser) rs1370363543
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del) rs747274001
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly) rs201263163
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) rs201263163
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=) rs2113489256
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met) rs199663339
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.674-18T>G rs1317780724
NM_003900.5(SQSTM1):c.674-5C>T
NM_003900.5(SQSTM1):c.674-7dup rs761346520
NM_003900.5(SQSTM1):c.674-8A>G
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=) rs140341924
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=) rs766419538
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp) rs1467107148
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=) rs889431769
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
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.754+5G>A
NM_003900.5(SQSTM1):c.755-12C>G
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.758T>C (p.Ile253Thr) rs753016349
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile) rs182522590
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala) rs988411948
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly) rs988411948
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met) rs372827450
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=) rs372827450
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
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.792AAG[1] (p.Arg265del)
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser) rs745853858
NM_003900.5(SQSTM1):c.810del (p.Val271fs) rs1758316662
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs) rs1273214757
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe) rs202119215
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly) rs2113510695
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=) rs2113510724
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr) rs760785371
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr) rs764205744
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu) rs754060027
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg) rs1012113887
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.889G>C (p.Gly297Arg)
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys) rs764111892
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg) rs2113510972
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
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.923C>A (p.Ala308Glu)
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met) rs200695664
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
NM_003900.5(SQSTM1):c.969+14C>T
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=) rs2113511316
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
NM_003900.5(SQSTM1):c.970-13A>G rs1013927869
NM_003900.5(SQSTM1):c.970-2A>G rs2113512370
NM_003900.5(SQSTM1):c.970-4C>T
NM_003900.5(SQSTM1):c.970-8T>C
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys) rs1436000961
NM_003900.5(SQSTM1):c.970del rs758377403
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys) rs1358261412
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu) rs1185406298
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
NM_004082.5(DCTN1):c.1000G>A (p.Glu334Lys)
NM_004082.5(DCTN1):c.1000G>T (p.Glu334Ter)
NM_004082.5(DCTN1):c.1008T>C (p.Thr336=)
NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala) rs2103659798
NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser)
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+3A>C rs1674767158
NM_004082.5(DCTN1):c.1048+4A>G rs1309897356
NM_004082.5(DCTN1):c.1048+6G>A
NM_004082.5(DCTN1):c.1048+8G>A rs1335279632
NM_004082.5(DCTN1):c.1049-13_1049-12del
NM_004082.5(DCTN1):c.1054G>C (p.Asp352His)
NM_004082.5(DCTN1):c.1062T>C (p.Ala354=)
NM_004082.5(DCTN1):c.1086G>T (p.Gln362His)
NM_004082.5(DCTN1):c.1093G>T (p.Glu365Ter)
NM_004082.5(DCTN1):c.1102G>A (p.Ala368Thr) rs1034996844
NM_004082.5(DCTN1):c.1106G>A (p.Arg369His)
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+6G>A rs951022782
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.1129A>C (p.Met377Leu) rs570863800
NM_004082.5(DCTN1):c.1132C>T (p.Arg378Trp)
NM_004082.5(DCTN1):c.1133G>A (p.Arg378Gln)
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.1165G>A (p.Val389Met)
NM_004082.5(DCTN1):c.1170G>A (p.Lys390=) rs1674741348
NM_004082.5(DCTN1):c.1179G>C (p.Lys393Asn) rs1674740605
NM_004082.5(DCTN1):c.1199A>C (p.Gln400Pro)
NM_004082.5(DCTN1):c.11G>A (p.Ser4Asn)
NM_004082.5(DCTN1):c.1200A>G (p.Gln400=)
NM_004082.5(DCTN1):c.1203G>T (p.Glu401Asp) rs2103655781
NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter) rs2103723456
NM_004082.5(DCTN1):c.1227G>C (p.Arg409=) rs2103655320
NM_004082.5(DCTN1):c.1231C>T (p.Arg411Cys)
NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)
NM_004082.5(DCTN1):c.1232G>T (p.Arg411Leu) rs186892779
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.1259A>G (p.Glu420Gly) rs1674734372
NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala) rs2103654759
NM_004082.5(DCTN1):c.1284G>A (p.Glu428=)
NM_004082.5(DCTN1):c.1287+12C>T
NM_004082.5(DCTN1):c.1287+5G>A
NM_004082.5(DCTN1):c.1288-10C>G rs72659375
NM_004082.5(DCTN1):c.1288-12C>T
NM_004082.5(DCTN1):c.1288-19T>C rs2103653681
NM_004082.5(DCTN1):c.1288-1G>A rs2103653438
NM_004082.5(DCTN1):c.1288-20C>T
NM_004082.5(DCTN1):c.1288-7_1289del rs1674719585
NM_004082.5(DCTN1):c.1288G>A (p.Val430Met)
NM_004082.5(DCTN1):c.1292A>G (p.Asp431Gly)
NM_004082.5(DCTN1):c.1316T>C (p.Met439Thr) rs1573161529
NM_004082.5(DCTN1):c.1333G>C (p.Asp445His)
NM_004082.5(DCTN1):c.1335T>C (p.Asp445=)
NM_004082.5(DCTN1):c.1340A>G (p.Asn447Ser)
NM_004082.5(DCTN1):c.1347T>A (p.Asn449Lys) rs2103652994
NM_004082.5(DCTN1):c.1356G>A (p.Glu452=)
NM_004082.5(DCTN1):c.1366G>A (p.Glu456Lys) rs2103652794
NM_004082.5(DCTN1):c.1388A>G (p.Asp463Gly) rs1558941192
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.1393-13T>C
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.1396G>A (p.Ala466Thr)
NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val)
NM_004082.5(DCTN1):c.1398G>C (p.Ala466=)
NM_004082.5(DCTN1):c.1408A>G (p.Met470Val)
NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn)
NM_004082.5(DCTN1):c.1425G>A (p.Gln475=)
NM_004082.5(DCTN1):c.142_143delinsAT (p.Gly48Ile) rs1573179028
NM_004082.5(DCTN1):c.1435C>T (p.Arg479Cys) rs1558940606
NM_004082.5(DCTN1):c.1436G>T (p.Arg479Leu)
NM_004082.5(DCTN1):c.1447C>A (p.Leu483Met)
NM_004082.5(DCTN1):c.1461G>A (p.Glu487=) rs758555575
NM_004082.5(DCTN1):c.1481C>A (p.Ala494Glu)
NM_004082.5(DCTN1):c.1499A>G (p.Gln500Arg)
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.150A>G (p.Thr50=) rs1295226562
NM_004082.5(DCTN1):c.1514C>T (p.Ala505Val)
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.1552AAG[1] (p.Lys519del) rs2103645875
NM_004082.5(DCTN1):c.155T>C (p.Phe52Ser) rs2103723246
NM_004082.5(DCTN1):c.1562G>A (p.Arg521His)
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+2T>C
NM_004082.5(DCTN1):c.1584+5A>G rs1283119090
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.1585-16C>T
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.1592A>G (p.Asn531Ser) rs367910524
NM_004082.5(DCTN1):c.1594C>T (p.Arg532Trp)
NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu) rs759306485
NM_004082.5(DCTN1):c.1602G>C (p.Leu534=)
NM_004082.5(DCTN1):c.1606A>C (p.Asn536His) rs1553464927
NM_004082.5(DCTN1):c.1615G>A (p.Glu539Lys)
NM_004082.5(DCTN1):c.1616A>G (p.Glu539Gly)
NM_004082.5(DCTN1):c.1618G>A (p.Ala540Thr)
NM_004082.5(DCTN1):c.161C>T (p.Thr54Ile)
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.1636C>T (p.Gln546Ter)
NM_004082.5(DCTN1):c.1649C>T (p.Pro550Leu) rs2103644049
NM_004082.5(DCTN1):c.1659T>C (p.Phe553=)
NM_004082.5(DCTN1):c.1662C>T (p.Asp554=) rs188566922
NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg)
NM_004082.5(DCTN1):c.1671C>T (p.Ile557=)
NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)
NM_004082.5(DCTN1):c.1683G>A (p.Glu561=) rs1573158885
NM_004082.5(DCTN1):c.1684A>T (p.Thr562Ser)
NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)
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.1702-3C>A
NM_004082.5(DCTN1):c.1702-7C>G
NM_004082.5(DCTN1):c.1702G>A (p.Ala568Thr)
NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn) rs1553464828
NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr)
NM_004082.5(DCTN1):c.1707T>C (p.Ile569=) rs765410716
NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)
NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr) rs2103640952
NM_004082.5(DCTN1):c.1741G>T (p.Ala581Ser)
NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly) rs1288295388
NM_004082.5(DCTN1):c.1750C>A (p.His584Asn) rs2103640754
NM_004082.5(DCTN1):c.1752C>A (p.His584Gln) rs1345909454
NM_004082.5(DCTN1):c.1758C>A (p.Ser586=) rs773517017
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg) rs121909342
NM_004082.5(DCTN1):c.1761G>C (p.Leu587=)
NM_004082.5(DCTN1):c.1774A>C (p.Met592Leu)
NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser)
NM_004082.5(DCTN1):c.1788C>A (p.Phe596Leu)
NM_004082.5(DCTN1):c.178G>A (p.Val60Met) rs74768853
NM_004082.5(DCTN1):c.1799G>A (p.Gly600Asp)
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544
NM_004082.5(DCTN1):c.1808A>G (p.His603Arg)
NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly) rs1674611581
NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr)
NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)
NM_004082.5(DCTN1):c.1834A>T (p.Met612Leu)
NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys) rs1674609133
NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)
NM_004082.5(DCTN1):c.1844T>A (p.Leu615His) rs1674608736
NM_004082.5(DCTN1):c.1854+10A>G
NM_004082.5(DCTN1):c.1854+18C>T
NM_004082.5(DCTN1):c.1854+20T>A rs369606521
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.1873C>T (p.Gln625Ter) rs1674561364
NM_004082.5(DCTN1):c.187G>A (p.Asp63Asn)
NM_004082.5(DCTN1):c.1882_1884del (p.Glu628del)
NM_004082.5(DCTN1):c.1902G>T (p.Glu634Asp)
NM_004082.5(DCTN1):c.1904A>G (p.Asn635Ser)
NM_004082.5(DCTN1):c.1912G>A (p.Glu638Lys)
NM_004082.5(DCTN1):c.1912G>C (p.Glu638Gln)
NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)
NM_004082.5(DCTN1):c.1916G>A (p.Arg639Gln)
NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu) rs201095249
NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter) rs866457869
NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln) rs555733849
NM_004082.5(DCTN1):c.1931G>T (p.Gly644Val)
NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile) rs1558938711
NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg) rs2103632771
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.200G>T (p.Gly67Val) rs886039228
NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
NM_004082.5(DCTN1):c.2015+19C>A
NM_004082.5(DCTN1):c.2015+1G>C rs2103632452
NM_004082.5(DCTN1):c.2015+5G>A rs770696267
NM_004082.5(DCTN1):c.2016-12T>C
NM_004082.5(DCTN1):c.2016-3T>C
NM_004082.5(DCTN1):c.2016-6C>A rs1573155729
NM_004082.5(DCTN1):c.2020C>A (p.Leu674Ile)
NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe) rs368531137
NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)
NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter)
NM_004082.5(DCTN1):c.2031C>T (p.Cys677=) rs112930313
NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)
NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)
NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly) rs2103630948
NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)
NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn) rs72659377
NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu)
NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln) rs1674536343
NM_004082.5(DCTN1):c.2080G>A (p.Ala694Thr) rs2103630505
NM_004082.5(DCTN1):c.2088G>A (p.Glu696=)
NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys) rs1674533703
NM_004082.5(DCTN1):c.2091C>G (p.Arg697=)
NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
NM_004082.5(DCTN1):c.2103C>T (p.Phe701=)
NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe) rs374500944
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
NM_004082.5(DCTN1):c.2154G>A (p.Glu718=)
NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
NM_004082.5(DCTN1):c.2163C>T (p.Thr721=)
NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys) rs1287560245
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.2185-3C>T
NM_004082.5(DCTN1):c.2186A>G (p.His729Arg)
NM_004082.5(DCTN1):c.2194A>G (p.Ser732Gly)
NM_004082.5(DCTN1):c.2202C>T (p.His734=) rs2103626323
NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
NM_004082.5(DCTN1):c.2208C>G (p.Ala736=)
NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
NM_004082.5(DCTN1):c.2217T>G (p.Pro739=) rs1553464448
NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)
NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)
NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)
NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)
NM_004082.5(DCTN1):c.2238G>A (p.Leu746=) rs1553464441
NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser) rs2103722715
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.2254T>C (p.Phe752Leu)
NM_004082.5(DCTN1):c.2259G>A (p.Thr753=)
NM_004082.5(DCTN1):c.2259G>C (p.Thr753=) rs200275059
NM_004082.5(DCTN1):c.2264dup (p.Ser755fs)
NM_004082.5(DCTN1):c.2267C>T (p.Ala756Val)
NM_004082.5(DCTN1):c.2275T>C (p.Cys759Arg) rs2104418971
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.2294G>A (p.Gly765Glu) rs1410846987
NM_004082.5(DCTN1):c.2301G>A (p.Leu767=)
NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
NM_004082.5(DCTN1):c.2316+15A>G
NM_004082.5(DCTN1):c.2316+5G>A rs913439751
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.2317-2A>T rs980571603
NM_004082.5(DCTN1):c.231G>A (p.Lys77=)
NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
NM_004082.5(DCTN1):c.2328G>A (p.Glu776=) rs2104417915
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His) rs1558948987
NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala)
NM_004082.5(DCTN1):c.2338A>G (p.Ile780Val) rs1558937413
NM_004082.5(DCTN1):c.2344C>G (p.Leu782Val) rs2104417734
NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln)
NM_004082.5(DCTN1):c.2359C>G (p.Leu787Val) rs2104417597
NM_004082.5(DCTN1):c.2367T>G (p.Thr789=) rs994669046
NM_004082.5(DCTN1):c.2367_2368del (p.Ser790fs)
NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg) rs1297844991
NM_004082.5(DCTN1):c.2377G>A (p.Asp793Asn)
NM_004082.5(DCTN1):c.2382C>A (p.Ile794=) rs142107482
NM_004082.5(DCTN1):c.2387A>G (p.Gln796Arg) rs1674452900
NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)
NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val) rs573330919
NM_004082.5(DCTN1):c.2405G>A (p.Arg802Gln)
NM_004082.5(DCTN1):c.2410C>T (p.Arg804Ter) rs1674450649
NM_004082.5(DCTN1):c.2418A>G (p.Pro806=) rs2104417117
NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu) rs1573152954
NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly) rs372500630
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)
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.2462C>G (p.Pro821Arg)
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.2467-8G>A
NM_004082.5(DCTN1):c.2469A>G (p.Val823=)
NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro) rs1470946965
NM_004082.5(DCTN1):c.2493G>C (p.Arg831Ser)
NM_004082.5(DCTN1):c.2496A>G (p.Lys832=)
NM_004082.5(DCTN1):c.24G>A (p.Val8=)
NM_004082.5(DCTN1):c.2504C>T (p.Thr835Met)
NM_004082.5(DCTN1):c.2512G>A (p.Val838Met)
NM_004082.5(DCTN1):c.2520G>A (p.Val840=) rs2104415505
NM_004082.5(DCTN1):c.2525A>G (p.Gln842Arg) rs2104415444
NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu) rs75213803
NM_004082.5(DCTN1):c.2550G>C (p.Gln850His) rs2104415238
NM_004082.5(DCTN1):c.2575G>A (p.Glu859Lys)
NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)
NM_004082.5(DCTN1):c.2608G>A (p.Ala870Thr) rs1267339489
NM_004082.5(DCTN1):c.2612T>C (p.Phe871Ser)
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)
NM_004082.5(DCTN1):c.2628+11A>G
NM_004082.5(DCTN1):c.2628+3G>A
NM_004082.5(DCTN1):c.2628+5G>T
NM_004082.5(DCTN1):c.2629-13T>C
NM_004082.5(DCTN1):c.2629-18T>C
NM_004082.5(DCTN1):c.2629-7C>A rs1278207608
NM_004082.5(DCTN1):c.2642C>G (p.Pro881Arg)
NM_004082.5(DCTN1):c.2676A>G (p.Ser892=)
NM_004082.5(DCTN1):c.2677T>A (p.Cys893Ser)
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp) rs1437825772
NM_004082.5(DCTN1):c.2681A>G (p.Asn894Ser) rs1207333910
NM_004082.5(DCTN1):c.2688C>T (p.Leu896=)
NM_004082.5(DCTN1):c.269G>A (p.Arg90His)
NM_004082.5(DCTN1):c.2705A>G (p.Lys902Arg)
NM_004082.5(DCTN1):c.2706G>A (p.Lys902=)
NM_004082.5(DCTN1):c.2711C>T (p.Ala904Val)
NM_004082.5(DCTN1):c.2719A>G (p.Met907Val) rs1459064982
NM_004082.5(DCTN1):c.2731dup (p.Glu911fs) rs1573151165
NM_004082.5(DCTN1):c.2738A>G (p.Asp913Gly)
NM_004082.5(DCTN1):c.2749C>T (p.Pro917Ser)
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>G rs200545447
NM_004082.5(DCTN1):c.2761-19C>T
NM_004082.5(DCTN1):c.2761-20C>G
NM_004082.5(DCTN1):c.2761C>G (p.Pro921Ala)
NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)
NM_004082.5(DCTN1):c.2769G>A (p.Pro923=)
NM_004082.5(DCTN1):c.279+11C>A
NM_004082.5(DCTN1):c.279+1G>A rs1393363759
NM_004082.5(DCTN1):c.279+1G>C rs1393363759
NM_004082.5(DCTN1):c.279+1G>T rs1393363759
NM_004082.5(DCTN1):c.279+20G>T
NM_004082.5(DCTN1):c.2793dup (p.Arg932fs) rs1674376535
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys) rs373818927
NM_004082.5(DCTN1):c.2795G>T (p.Arg932Leu)
NM_004082.5(DCTN1):c.279G>A (p.Gln93=) rs1675325580
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
NM_004082.5(DCTN1):c.280-14del
NM_004082.5(DCTN1):c.280-34_280-12del rs762313810
NM_004082.5(DCTN1):c.280-34_280-12dup rs762313810
NM_004082.5(DCTN1):c.280-5C>T rs1675307447
NM_004082.5(DCTN1):c.2808del (p.Asp937fs) rs1674375059
NM_004082.5(DCTN1):c.2809G>A (p.Asp937Asn) rs2104411784
NM_004082.5(DCTN1):c.280A>G (p.Ile94Val)
NM_004082.5(DCTN1):c.282C>A (p.Ile94=)
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.2879A>G (p.Lys960Arg) rs1354697657
NM_004082.5(DCTN1):c.287T>C (p.Val96Ala) rs1675306520
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.2887G>C (p.Gly963Arg)
NM_004082.5(DCTN1):c.288A>G (p.Val96=) rs1553466396
NM_004082.5(DCTN1):c.2895G>T (p.Glu965Asp)
NM_004082.5(DCTN1):c.2909A>G (p.Asn970Ser) rs568812456
NM_004082.5(DCTN1):c.2926C>A (p.Leu976Met) rs2104409827
NM_004082.5(DCTN1):c.2927T>C (p.Leu976Pro)
NM_004082.5(DCTN1):c.2932AAG[1] (p.Lys979del) rs1371339798
NM_004082.5(DCTN1):c.2937G>A (p.Lys979=)
NM_004082.5(DCTN1):c.2938T>A (p.Leu980Met)
NM_004082.5(DCTN1):c.2951C>T (p.Ala984Val)
NM_004082.5(DCTN1):c.2963A>T (p.Asp988Val)
NM_004082.5(DCTN1):c.2964T>A (p.Asp988Glu) rs1674344495
NM_004082.5(DCTN1):c.2964T>G (p.Asp988Glu)
NM_004082.5(DCTN1):c.2968C>T (p.Arg990Cys)
NM_004082.5(DCTN1):c.2973C>T (p.Ile991=)
NM_004082.5(DCTN1):c.2974G>A (p.Glu992Lys) rs768409522
NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala) rs1558935430
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp) rs1030053524
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.3017G>A (p.Arg1006Gln) rs752882353
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.3029+19G>T rs201665169
NM_004082.5(DCTN1):c.3029+5G>A
NM_004082.5(DCTN1):c.3030-20G>A
NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu) rs1674319515
NM_004082.5(DCTN1):c.3045A>G (p.Thr1015=)
NM_004082.5(DCTN1):c.3046A>G (p.Met1016Val)
NM_004082.5(DCTN1):c.305A>G (p.Asp102Gly)
NM_004082.5(DCTN1):c.3067A>G (p.Ile1023Val)
NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn) rs1558935068
NM_004082.5(DCTN1):c.3096A>G (p.Glu1032=)
NM_004082.5(DCTN1):c.3106C>T (p.Arg1036Cys)
NM_004082.5(DCTN1):c.310A>G (p.Thr104Ala)
NM_004082.5(DCTN1):c.3125A>G (p.Lys1042Arg)
NM_004082.5(DCTN1):c.3129C>T (p.Arg1043=) rs1354118647
NM_004082.5(DCTN1):c.3131C>T (p.Thr1044Met)
NM_004082.5(DCTN1):c.3132G>A (p.Thr1044=) rs375157202
NM_004082.5(DCTN1):c.3133A>T (p.Ile1045Phe)
NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr) rs1187766749
NM_004082.5(DCTN1):c.3157C>G (p.Pro1053Ala)
NM_004082.5(DCTN1):c.3157C>T (p.Pro1053Ser)
NM_004082.5(DCTN1):c.316C>G (p.Pro106Ala)
NM_004082.5(DCTN1):c.3172A>T (p.Thr1058Ser) rs1470101332
NM_004082.5(DCTN1):c.3174T>G (p.Thr1058=) rs2104406793
NM_004082.5(DCTN1):c.3175C>G (p.Leu1059Val) rs752323459
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=) rs1213472053
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.31C>T (p.Arg11Trp)
NM_004082.5(DCTN1):c.3209G>A (p.Arg1070Gln)
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.3212-14dup
NM_004082.5(DCTN1):c.3212-20A>T
NM_004082.5(DCTN1):c.3212-2A>G rs1674169667
NM_004082.5(DCTN1):c.3212-3C>T
NM_004082.5(DCTN1):c.3219C>T (p.Ile1073=)
NM_004082.5(DCTN1):c.3236G>A (p.Gly1079Glu)
NM_004082.5(DCTN1):c.3259G>C (p.Val1087Leu)
NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)
NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro)
NM_004082.5(DCTN1):c.3279G>T (p.Leu1093=)
NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe) rs762263842
NM_004082.5(DCTN1):c.3286C>A (p.Gln1096Lys) rs1246390551
NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)
NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)
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.3310A>G (p.Ile1104Val)
NM_004082.5(DCTN1):c.3326A>G (p.His1109Arg) rs1244901384
NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys) rs765267495
NM_004082.5(DCTN1):c.332C>A (p.Ser111Tyr) rs374419252
NM_004082.5(DCTN1):c.332C>T (p.Ser111Phe)
NM_004082.5(DCTN1):c.3333C>T (p.Asn1111=)
NM_004082.5(DCTN1):c.3335G>C (p.Ser1112Thr)
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.3345G>A (p.Lys1115=)
NM_004082.5(DCTN1):c.3346-17T>C
NM_004082.5(DCTN1):c.3350C>G (p.Ala1117Gly)
NM_004082.5(DCTN1):c.3375C>G (p.Ser1125=) rs921121555
NM_004082.5(DCTN1):c.3378G>A (p.Leu1126=)
NM_004082.5(DCTN1):c.3391G>T (p.Val1131Phe) rs1296558175
NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu) rs1064797254
NM_004082.5(DCTN1):c.34-13C>A
NM_004082.5(DCTN1):c.34-1G>C
NM_004082.5(DCTN1):c.34-20T>C
NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)
NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg) rs1674138994
NM_004082.5(DCTN1):c.3408T>C (p.His1136=)
NM_004082.5(DCTN1):c.3417T>C (p.Pro1139=)
NM_004082.5(DCTN1):c.3420C>G (p.Gly1140=)
NM_004082.5(DCTN1):c.3422G>A (p.Ser1141Asn)
NM_004082.5(DCTN1):c.3425A>G (p.Glu1142Gly) rs1573142045
NM_004082.5(DCTN1):c.3430C>A (p.Pro1144Thr) rs1399568739
NM_004082.5(DCTN1):c.3434C>G (p.Ala1145Gly)
NM_004082.5(DCTN1):c.3445T>C (p.Tyr1149His)
NM_004082.5(DCTN1):c.345A>G (p.Lys115=) rs1675303256
NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg) rs1674134327
NM_004082.5(DCTN1):c.3490A>T (p.Thr1164Ser) rs72466493
NM_004082.5(DCTN1):c.3497C>G (p.Thr1166Arg) rs376549770
NM_004082.5(DCTN1):c.3499C>A (p.His1167Asn) rs2104395345
NM_004082.5(DCTN1):c.3511A>G (p.Ile1171Val)
NM_004082.5(DCTN1):c.3516T>G (p.Thr1172=)
NM_004082.5(DCTN1):c.3517C>T (p.Arg1173Cys) rs1442881228
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.3529+8C>T rs547520298
NM_004082.5(DCTN1):c.3530-18A>G rs767080798
NM_004082.5(DCTN1):c.3530-1G>A rs2104393432
NM_004082.5(DCTN1):c.3537G>A (p.Lys1179=) rs148146325
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004082.5(DCTN1):c.3540C>T (p.Ser1180=)
NM_004082.5(DCTN1):c.3542C>G (p.Pro1181Arg) rs1403208705
NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu) rs1403208705
NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val) rs1477782343
NM_004082.5(DCTN1):c.3559G>C (p.Glu1187Gln) rs1485769288
NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=) rs1674099395
NM_004082.5(DCTN1):c.3571C>A (p.Gln1191Lys)
NM_004082.5(DCTN1):c.358+17_358+18insGA rs2103719288
NM_004082.5(DCTN1):c.3580T>G (p.Ser1194Ala)
NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)
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.3609+20C>T
NM_004082.5(DCTN1):c.3610-13_3612del rs2104389854
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.3615G>T (p.Glu1205Asp)
NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg) rs565866230
NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del) rs1364182022
NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser) rs184147813
NM_004082.5(DCTN1):c.3645T>C (p.Pro1215=)
NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly)
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala) rs886070472
NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His) rs1276978486
NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn)
NM_004082.5(DCTN1):c.3683C>T (p.Ser1228Leu)
NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)
NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=) rs1573138460
NM_004082.5(DCTN1):c.3694C>G (p.Leu1232Val)
NM_004082.5(DCTN1):c.3699+11G>A
NM_004082.5(DCTN1):c.3699+12_3699+23del rs769645845
NM_004082.5(DCTN1):c.3699+18_3699+29del rs780978911
NM_004082.5(DCTN1):c.3699+18del
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.3700-3C>G
NM_004082.5(DCTN1):c.3700-3C>T rs747435830
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.3701C>T (p.Ala1234Val) rs1200946425
NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg) rs769430160
NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)
NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys) rs752422008
NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn) rs2104386809
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.374C>T (p.Thr125Ile) rs1275593815
NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu) rs1673994728
NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala) rs766778493
NM_004082.5(DCTN1):c.3752C>T (p.Ser1251Leu)
NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg) rs1238095268
NM_004082.5(DCTN1):c.376G>A (p.Ala126Thr) rs1553466338
NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr) rs1375787578
NM_004082.5(DCTN1):c.3780C>T (p.His1260=)
NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=) rs779676968
NM_004082.5(DCTN1):c.3787G>A (p.Val1263Met) rs2104386411
NM_004082.5(DCTN1):c.378A>G (p.Ala126=)
NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys) rs146083590
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln) rs146083590
NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg) rs751431467
NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu) rs1673987624
NM_004082.5(DCTN1):c.3820A>C (p.Ser1274Arg)
NM_004082.5(DCTN1):c.3828C>T (p.Leu1276=) rs374006190
NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr)
NM_004082.5(DCTN1):c.3834C>T (p.Ser1278=)
NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)
NM_004082.5(DCTN1):c.393+15G>A
NM_004082.5(DCTN1):c.393+15G>T rs535614130
NM_004082.5(DCTN1):c.393+16del rs529200706
NM_004082.5(DCTN1):c.393G>A (p.Leu131=)
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.394-2dup rs1403988786
NM_004082.5(DCTN1):c.394-3C>T
NM_004082.5(DCTN1):c.394-9_394-7del rs932190621
NM_004082.5(DCTN1):c.394C>T (p.Arg132Trp)
NM_004082.5(DCTN1):c.403A>C (p.Lys135Gln) rs1675250026
NM_004082.5(DCTN1):c.414+12A>C
NM_004082.5(DCTN1):c.414+1G>T rs576198476
NM_004082.5(DCTN1):c.415-5G>A rs2103694423
NM_004082.5(DCTN1):c.419C>A (p.Pro140Gln)
NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu) rs147939455
NM_004082.5(DCTN1):c.41G>T (p.Ser14Ile)
NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg) rs2103694207
NM_004082.5(DCTN1):c.425C>T (p.Ala142Val)
NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly) rs781290307
NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln) rs764615912
NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)
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.432+1G>T rs1235693710
NM_004082.5(DCTN1):c.433-17T>A
NM_004082.5(DCTN1):c.433-3C>T rs375832615
NM_004082.5(DCTN1):c.433-9C>T
NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser)
NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly) rs148810193
NM_004082.5(DCTN1):c.453+14C>A
NM_004082.5(DCTN1):c.453+15C>T
NM_004082.5(DCTN1):c.453+6A>G
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.475G>T (p.Gly159Trp)
NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser) rs746429168
NM_004082.5(DCTN1):c.495C>T (p.Ser165=)
NM_004082.5(DCTN1):c.518C>G (p.Ala173Gly) rs1445980252
NM_004082.5(DCTN1):c.518C>T (p.Ala173Val) rs1445980252
NM_004082.5(DCTN1):c.519G>A (p.Ala173=) rs376565787
NM_004082.5(DCTN1):c.51G>T (p.Arg17Ser)
NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
NM_004082.5(DCTN1):c.528T>G (p.Gly176=)
NM_004082.5(DCTN1):c.537C>T (p.Ser179=)
NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn) rs1365948671
NM_004082.5(DCTN1):c.540C>T (p.Ser180=)
NM_004082.5(DCTN1):c.546G>A (p.Glu182=)
NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser) rs1674861180
NM_004082.5(DCTN1):c.549C>T (p.Pro183=)
NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
NM_004082.5(DCTN1):c.570G>T (p.Pro190=) rs528908728
NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu) rs1057518814
NM_004082.5(DCTN1):c.588C>T (p.Ile196=) rs761974691
NM_004082.5(DCTN1):c.589C>T (p.Pro197Ser)
NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)
NM_004082.5(DCTN1):c.5C>T (p.Ala2Val) rs1675439973
NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)
NM_004082.5(DCTN1):c.606C>G (p.Thr202=)
NM_004082.5(DCTN1):c.611C>T (p.Pro204Leu)
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser) rs770302677
NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln) rs112725508
NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg) rs112725508
NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu) rs112725508
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
NM_004082.5(DCTN1):c.627G>A (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.627G>C (p.Pro209=)
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg) rs1558943273
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu) rs754827026
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.694G>C (p.Glu232Gln) rs1573164746
NM_004082.5(DCTN1):c.69C>T (p.Ser23=)
NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr) rs372733713
NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser)
NM_004082.5(DCTN1):c.713G>A (p.Arg238Gln)
NM_004082.5(DCTN1):c.714G>T (p.Arg238=)
NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser) rs1674806644
NM_004082.5(DCTN1):c.742C>G (p.Leu248Val) rs112475795
NM_004082.5(DCTN1):c.74G>A (p.Arg25Gln)
NM_004082.5(DCTN1):c.786G>A (p.Lys262=) rs1573164518
NM_004082.5(DCTN1):c.793A>C (p.Met265Leu)
NM_004082.5(DCTN1):c.793A>T (p.Met265Leu) rs2103663572
NM_004082.5(DCTN1):c.809C>T (p.Ala270Val)
NM_004082.5(DCTN1):c.810C>G (p.Ala270=) rs569011011
NM_004082.5(DCTN1):c.820C>T (p.Arg274Trp)
NM_004082.5(DCTN1):c.82C>T (p.Arg28Trp)
NM_004082.5(DCTN1):c.833A>T (p.Glu278Val) rs1553465344
NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr) rs1674798940
NM_004082.5(DCTN1):c.840A>G (p.Arg280=)
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.844-2A>G rs2103661242
NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg) rs755017882
NM_004082.5(DCTN1):c.852G>A (p.Lys284=)
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val) rs896989123
NM_004082.5(DCTN1):c.858G>A (p.Ala286=) rs151107870
NM_004082.5(DCTN1):c.858G>T (p.Ala286=) rs151107870
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) rs1200414397
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.920C>G (p.Ala307Gly) rs759253635
NM_004082.5(DCTN1):c.921C>T (p.Ala307=)
NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
NM_004082.5(DCTN1):c.954T>C (p.Ala318=)
NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
NM_004082.5(DCTN1):c.969G>A (p.Gln323=)
NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg) rs760539371
NM_004082.5(DCTN1):c.990G>A (p.Glu330=) rs2103660210
NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp) rs1064797256
NM_004082.5(DCTN1):c.992G>A (p.Arg331Gln)
NM_004082.5(DCTN1):c.999C>A (p.Asp333Glu)
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) rs200952455
NM_004082.5(DCTN1):c.999C>T (p.Asp333=) rs200952455
NM_004738.5(VAPB):c.-33C>G rs201547974
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala) rs755474083
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) rs781691837
NM_004738.5(VAPB):c.111C>T (p.Asp37=) rs781691837
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
NM_004738.5(VAPB):c.117T>C (p.Asn39=) rs748583918
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys) rs777026649
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
NM_004738.5(VAPB):c.156C>T (p.Tyr52=) rs749580878
NM_004738.5(VAPB):c.159del (p.Cys53fs)
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
NM_004738.5(VAPB):c.189A>C (p.Ala63=) rs2123058915
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
NM_004738.5(VAPB):c.194C>T (p.Ala65Val) rs1555813002
NM_004738.5(VAPB):c.195C>A (p.Ala65=) rs1555813003
NM_004738.5(VAPB):c.207A>G (p.Val69=)
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe) rs762603323
NM_004738.5(VAPB):c.211+11A>T
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
NM_004738.5(VAPB):c.21C>G (p.Val7=) rs763066492
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg) rs2123088879
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
NM_004738.5(VAPB):c.246G>A (p.Glu82=)
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) rs2123088925
NM_004738.5(VAPB):c.24G>A (p.Leu8=)
NM_004738.5(VAPB):c.252T>C (p.Ser84=) rs2123088934
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
NM_004738.5(VAPB):c.309A>G (p.Glu103=)
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556
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.316-3del
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser) rs1431840351
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) rs1987730075
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
NM_004738.5(VAPB):c.375G>A (p.Leu125=) rs2123096724
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
NM_004738.5(VAPB):c.378A>G (p.Pro126=) rs981564507
NM_004738.5(VAPB):c.384G>A (p.Glu128=)
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) rs760656837
NM_004738.5(VAPB):c.396+16G>A
NM_004738.5(VAPB):c.396+21_396+23del
NM_004738.5(VAPB):c.396+6T>C
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.421A>G (p.Ile141Val) rs1392475929
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
NM_004738.5(VAPB):c.438A>G (p.Ser146=)
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser) rs1989146263
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
NM_004738.5(VAPB):c.457G>A (p.Val153Met) rs1362788253
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) rs1555815825
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val) rs2123099930
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) rs1989148708
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser) rs1039112226
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) rs1568720020
NM_004738.5(VAPB):c.547C>T (p.Leu183=)
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) rs145483046
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
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.587T>C (p.Leu196Pro) rs1252954619
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp) rs371134278
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.59-20G>A
NM_004738.5(VAPB):c.59-3C>T
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser) rs757786343
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) rs1989221617
NM_004738.5(VAPB):c.63C>G (p.Pro21=)
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) rs1989222839
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) rs763755820
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser) rs1439925669
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp) rs2123105103
NM_004738.5(VAPB):c.677C>T (p.Ala226Val) rs2123105103
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
NM_004738.5(VAPB):c.688T>G (p.Leu230Val) rs1600821730
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
NM_004738.5(VAPB):c.69C>T (p.Thr23=)
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
NM_004738.5(VAPB):c.709A>G (p.Ile237Val) rs1555816248
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
NM_004738.5(VAPB):c.78C>T (p.Val26=) rs2123058654
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala) rs2123058661
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp) rs2123058664
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser) rs1293144080
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)
NM_004738.5(VAPB):c.99C>T (p.Gly33=)
NM_004960.3(FUS):c.515_523+3del
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.1055A>T (p.Asp352Val)
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.1087C>G (p.Pro363Ala)
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys) rs773141319
NM_004960.4(FUS):c.1125T>C (p.Phe375=)
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
NM_004960.4(FUS):c.1168+16C>T
NM_004960.4(FUS):c.1169-7G>A rs763718245
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala) rs560450437
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
NM_004960.4(FUS):c.119G>C (p.Gly40Ala)
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
NM_004960.4(FUS):c.1292+20T>A
NM_004960.4(FUS):c.1292+22dup rs572228309
NM_004960.4(FUS):c.1293-13C>T
NM_004960.4(FUS):c.1317T>C (p.Ser439=) rs377010944
NM_004960.4(FUS):c.135G>T (p.Thr45=)
NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)
NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu) rs1131691846
NM_004960.4(FUS):c.1377A>C (p.Pro459=)
NM_004960.4(FUS):c.1391_1392dup (p.Gly465fs) rs2144138894
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.1394-2del rs1555509569
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.1414C>T (p.Arg472Cys) rs914056789
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
NM_004960.4(FUS):c.1446C>T (p.Gly482=) rs112061837
NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)
NM_004960.4(FUS):c.144A>G (p.Ser48=)
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser) rs753458243
NM_004960.4(FUS):c.1500dup (p.Gly501fs) rs2144140268
NM_004960.4(FUS):c.1506C>T (p.Asp502=)
NM_004960.4(FUS):c.1509_1510del (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1509_1510dup (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)
NM_004960.4(FUS):c.1531dup (p.Met511fs)
NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
NM_004960.4(FUS):c.1541+12A>C
NM_004960.4(FUS):c.1541+1G>A rs2079351113
NM_004960.4(FUS):c.1541+9_1541+10del rs761850706
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
NM_004960.4(FUS):c.1545_1547dup (p.Gly515_Glu516insAsp) rs2079357583
NM_004960.4(FUS):c.1549C>A (p.His517Asn)
NM_004960.4(FUS):c.1550A>G (p.His517Arg) rs1085308015
NM_004960.4(FUS):c.1552A>G (p.Arg518Gly) rs1409962577
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs) rs2144142389
NM_004960.4(FUS):c.1555C>G (p.Gln519Glu) rs1567479067
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1562G>A (p.Arg521His) rs121909671
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu) rs121909671
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) rs267606833
NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del) rs777545405
NM_004960.4(FUS):c.190+16C>T
NM_004960.4(FUS):c.191-8C>T
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
NM_004960.4(FUS):c.215C>T (p.Pro72Leu) rs2144107259
NM_004960.4(FUS):c.231G>A (p.Ser77=) rs746093073
NM_004960.4(FUS):c.234T>C (p.Thr78=)
NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
NM_004960.4(FUS):c.267G>A (p.Ser89=)
NM_004960.4(FUS):c.285C>G (p.Ser95=)
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr) rs2079220021
NM_004960.4(FUS):c.335+6G>C
NM_004960.4(FUS):c.335+8G>C
NM_004960.4(FUS):c.336-19T>G
NM_004960.4(FUS):c.336-19_336-16del rs755482297
NM_004960.4(FUS):c.336-20T>G
NM_004960.4(FUS):c.336-4C>G
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
NM_004960.4(FUS):c.38+19C>T
NM_004960.4(FUS):c.39-11C>G rs1449243081
NM_004960.4(FUS):c.39-18G>A
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1]) rs747579808
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.474G>C (p.Gln158His)
NM_004960.4(FUS):c.493A>G (p.Ser165Gly) rs1325339011
NM_004960.4(FUS):c.493_495del (p.Ser165del) rs2079227565
NM_004960.4(FUS):c.511G>T (p.Gly171Cys)
NM_004960.4(FUS):c.518_523del
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.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.537A>C (p.Gln179His)
NM_004960.4(FUS):c.550A>G (p.Met184Val)
NM_004960.4(FUS):c.559G>A (p.Gly187Ser)
NM_004960.4(FUS):c.566G>A (p.Gly189Asp)
NM_004960.4(FUS):c.571G>A (p.Gly191Ser) rs148758737
NM_004960.4(FUS):c.576C>T (p.Gly192=)
NM_004960.4(FUS):c.579T>G (p.Gly193=)
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)
NM_004960.4(FUS):c.647G>A (p.Arg216His)
NM_004960.4(FUS):c.649G>C (p.Gly217Arg) rs565915110
NM_004960.4(FUS):c.652_678del (p.Arg218_Gly226del) rs756437417
NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)
NM_004960.4(FUS):c.669CGG[10] (p.Gly228_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del) rs72550890
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.669CGG[7] (p.Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup) 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.685GGT[4] (p.Gly231_Tyr232insGly)
NM_004960.4(FUS):c.685GGT[5] (p.Gly230_Gly231dup) rs757651881
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup) rs757651881
NM_004960.4(FUS):c.689G>T (p.Gly230Val)
NM_004960.4(FUS):c.691G>A (p.Gly231Ser) rs2144114616
NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
NM_004960.4(FUS):c.702C>T (p.Arg234=) rs149785330
NM_004960.4(FUS):c.705C>T (p.Ser235=)
NM_004960.4(FUS):c.726A>G (p.Arg242=) rs2144114862
NM_004960.4(FUS):c.731G>A (p.Arg244His)
NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
NM_004960.4(FUS):c.743G>A (p.Arg248His) rs760351730
NM_004960.4(FUS):c.744T>A (p.Arg248=) rs1596898427
NM_004960.4(FUS):c.759C>T (p.Gly253=)
NM_004960.4(FUS):c.761T>C (p.Met254Thr)
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.823C>T (p.His275Tyr)
NM_004960.4(FUS):c.831C>T (p.Ser277=)
NM_004960.4(FUS):c.832+13G>A
NM_004960.4(FUS):c.833-10C>G
NM_004960.4(FUS):c.833-6A>G
NM_004960.4(FUS):c.849C>T (p.Asp283=)
NM_004960.4(FUS):c.884A>G (p.Asn295Ser)
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.106G>C (p.Val36Leu) rs2132330402
NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys) rs867727095
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)
NM_005866.4(SIGMAR1):c.13del (p.Val5fs) rs1564096761
NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro) rs779459049
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs) rs1820936580
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.152-2A>T rs2132329744
NM_005866.4(SIGMAR1):c.152-4C>A rs1678098962
NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu) rs2132329730
NM_005866.4(SIGMAR1):c.153G>T (p.Gly51=)
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly) rs1382890194
NM_005866.4(SIGMAR1):c.171C>T (p.Ala57=)
NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
NM_005866.4(SIGMAR1):c.177T>G (p.Ser59=) rs1365967267
NM_005866.4(SIGMAR1):c.198G>C (p.Arg66=)
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) rs747285235
NM_005866.4(SIGMAR1):c.202C>T (p.Leu68=) rs2132329481
NM_005866.4(SIGMAR1):c.207C>T (p.His69=)
NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
NM_005866.4(SIGMAR1):c.237G>T (p.Leu79=) rs555351774
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu) rs1820911034
NM_005866.4(SIGMAR1):c.255T>C (p.Asn85=)
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) rs768933234
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg) rs768933234
NM_005866.4(SIGMAR1):c.261T>A (p.Gly87=)
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile) rs1820909011
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) rs780136067
NM_005866.4(SIGMAR1):c.291C>T (p.His97=)
NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=)
NM_005866.4(SIGMAR1):c.300G>A (p.Leu100=) rs1554707982
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829
NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=)
NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=) rs1482584320
NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
NM_005866.4(SIGMAR1):c.348C>T (p.His116=) rs978371056
NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
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.356G>A (p.Arg119His)
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.374C>A (p.Ser125Ter)
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.448G>A (p.Glu150Lys) rs757260058
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)
NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=) rs2132330785
NM_005866.4(SIGMAR1):c.462C>T (p.His154=)
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp) rs200076129
NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala) rs2132324643
NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp) rs1820834441
NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=)
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter) rs1242817438
NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu) rs1820832825
NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
NM_005866.4(SIGMAR1):c.543C>T (p.Thr181=) rs1820831056
NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=)
NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del) rs2132324233
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr) rs777650644
NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro) rs777650644
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680
NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=)
NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)
NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu) rs1406092949
NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=)
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe) rs1820825348
NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=)
NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu) rs1396152845
NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
NM_005866.4(SIGMAR1):c.627C>A (p.Gly209=) rs746866850
NM_005866.4(SIGMAR1):c.63G>A (p.Val21=)
NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs) rs752243393
NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=)
NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His) rs764002616
NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg) rs1564096623
NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=)
NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro) rs1820931363
NM_007126.5(VCP):c.1017A>G (p.Ala339=) rs565534943
NM_007126.5(VCP):c.1031T>C (p.Met344Thr)
NM_007126.5(VCP):c.1050C>G (p.Pro350=)
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr)
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.1082-18_1082-8dup rs11272867
NM_007126.5(VCP):c.1082-8_1082-7insTGTTTGTGTAT
NM_007126.5(VCP):c.1095G>A (p.Arg365=)
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) rs1828723406
NM_007126.5(VCP):c.1107T>C (p.Ile369=)
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)
NM_007126.5(VCP):c.1137G>A (p.Glu379=)
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu) rs1828722725
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu) rs1563977665
NM_007126.5(VCP):c.1160A>G (p.Asn387Ser)
NM_007126.5(VCP):c.1179T>C (p.Asp393=)
NM_007126.5(VCP):c.1180G>A (p.Val394Met) rs1587122661
NM_007126.5(VCP):c.1182G>A (p.Val394=) rs1828721841
NM_007126.5(VCP):c.1186C>G (p.Leu396Val) rs2131031813
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.1197A>G (p.Val399=) rs886044575
NM_007126.5(VCP):c.1198G>T (p.Ala400Ser)
NM_007126.5(VCP):c.11G>A (p.Gly4Glu)
NM_007126.5(VCP):c.1202A>T (p.Asn401Ile) rs148329626
NM_007126.5(VCP):c.1265C>G (p.Ala422Gly) rs2131031304
NM_007126.5(VCP):c.1283A>T (p.Asp428Val) rs2131031300
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.1307C>T (p.Thr436Ile)
NM_007126.5(VCP):c.1309A>G (p.Ile437Val)
NM_007126.5(VCP):c.1310T>C (p.Ile437Thr)
NM_007126.5(VCP):c.1318G>A (p.Glu440Lys) rs955652521
NM_007126.5(VCP):c.1324A>G (p.Met442Val) rs1828712085
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.1357C>T (p.Arg453Trp) rs755519450
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.1433A>G (p.Asp478Gly) rs1554668345
NM_007126.5(VCP):c.1465C>T (p.Leu489=)
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.1528C>T (p.Pro510Ser)
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.1637A>G (p.Glu546Gly)
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.1696-34_1716dup rs2131029563
NM_007126.5(VCP):c.1696-3C>T
NM_007126.5(VCP):c.1696-5dup rs2131029583
NM_007126.5(VCP):c.1696-7C>T rs1554668202
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)
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.1790C>T (p.Ala597Val) rs890637602
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.1837A>G (p.Thr613Ala) rs2131029426
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.1864G>T (p.Ala622Ser) rs1828681453
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.1915C>A (p.Leu639Ile)
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.194G>A (p.Arg65Gln)
NM_007126.5(VCP):c.1950G>A (p.Glu650=) rs752382520
NM_007126.5(VCP):c.1972A>C (p.Lys658Gln)
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys) rs765795425
NM_007126.5(VCP):c.1993C>T (p.Pro665Ser) rs2131029246
NM_007126.5(VCP):c.2004+8C>T
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.2014T>G (p.Leu672Val) rs757829124
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile)
NM_007126.5(VCP):c.207C>T (p.Cys69=)
NM_007126.5(VCP):c.2110G>A (p.Glu704Lys)
NM_007126.5(VCP):c.2111A>C (p.Glu704Ala)
NM_007126.5(VCP):c.211G>A (p.Val71Ile)
NM_007126.5(VCP):c.2134G>C (p.Glu712Gln)
NM_007126.5(VCP):c.2143A>G (p.Thr715Ala)
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.2190G>T (p.Glu730Asp)
NM_007126.5(VCP):c.2197C>A (p.Arg733=) rs2131026649
NM_007126.5(VCP):c.2205C>T (p.His735=)
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)
NM_007126.5(VCP):c.2223C>T (p.Arg741=) rs775316749
NM_007126.5(VCP):c.2228C>T (p.Ala743Val) rs771662410
NM_007126.5(VCP):c.2233C>T (p.Arg745Cys) rs2131026595
NM_007126.5(VCP):c.2234G>A (p.Arg745His)
NM_007126.5(VCP):c.2242A>T (p.Ser748Cys) rs1828632660
NM_007126.5(VCP):c.2244T>C (p.Ser748=)
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys) rs1587117319
NM_007126.5(VCP):c.2298G>A (p.Arg766=)
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)
NM_007126.5(VCP):c.2315+10T>C
NM_007126.5(VCP):c.2315+6T>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.2345G>C (p.Gly782Ala) rs1828626335
NM_007126.5(VCP):c.2345G>T (p.Gly782Val) rs1828626335
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.2381G>A (p.Ser794Asn)
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.244A>C (p.Ile82Leu)
NM_007126.5(VCP):c.255T>C (p.Asn85=)
NM_007126.5(VCP):c.258A>G (p.Arg86=) rs1563980979
NM_007126.5(VCP):c.265C>T (p.Arg89Trp) rs1828865320
NM_007126.5(VCP):c.266G>A (p.Arg89Gln)
NM_007126.5(VCP):c.268A>G (p.Asn90Asp) rs1828865209
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_007126.5(VCP):c.273C>A (p.Asn91Lys) rs1563980966
NM_007126.5(VCP):c.273C>G (p.Asn91Lys) rs1563980966
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) rs1554669087
NM_007126.5(VCP):c.283C>A (p.Arg95Ser)
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007126.5(VCP):c.284G>C (p.Arg95Pro) rs758169026
NM_007126.5(VCP):c.288A>G (p.Leu96=)
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.291G>A (p.Gly97=)
NM_007126.5(VCP):c.298A>G (p.Ile100Val)
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.310C>T (p.Pro104Ser) rs1186937475
NM_007126.5(VCP):c.313T>C (p.Cys105Arg) rs1828842736
NM_007126.5(VCP):c.318T>C (p.Pro106=)
NM_007126.5(VCP):c.320A>T (p.Asp107Val) rs1563980440
NM_007126.5(VCP):c.34C>T (p.Leu12=)
NM_007126.5(VCP):c.355A>G (p.Ile119Val)
NM_007126.5(VCP):c.365C>T (p.Thr122Ile) rs2131038987
NM_007126.5(VCP):c.366A>G (p.Thr122=) rs1397108432
NM_007126.5(VCP):c.367G>A (p.Val123Met) rs2131038977
NM_007126.5(VCP):c.367G>C (p.Val123Leu)
NM_007126.5(VCP):c.372A>G (p.Glu124=) rs1587128887
NM_007126.5(VCP):c.374G>A (p.Gly125Asp) rs1563980403
NM_007126.5(VCP):c.375C>T (p.Gly125=)
NM_007126.5(VCP):c.377T>G (p.Ile126Ser) rs1828841085
NM_007126.5(VCP):c.380C>T (p.Thr127Ile)
NM_007126.5(VCP):c.382G>A (p.Gly128Ser)
NM_007126.5(VCP):c.382G>C (p.Gly128Arg)
NM_007126.5(VCP):c.383G>C (p.Gly128Ala) rs1554668979
NM_007126.5(VCP):c.390C>G (p.Leu130=) rs1587128848
NM_007126.5(VCP):c.393C>T (p.Phe131=)
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
NM_007126.5(VCP):c.399A>G (p.Val133=)
NM_007126.5(VCP):c.400T>C (p.Tyr134His)
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys) rs1828840466
NM_007126.5(VCP):c.401A>T (p.Tyr134Phe)
NM_007126.5(VCP):c.407A>C (p.Lys136Thr)
NM_007126.5(VCP):c.411G>A (p.Pro137=)
NM_007126.5(VCP):c.411G>C (p.Pro137=)
NM_007126.5(VCP):c.445+8C>G
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.446-4_446-3delinsAT rs1828808684
NM_007126.5(VCP):c.446-7C>G
NM_007126.5(VCP):c.446-7C>T rs757560700
NM_007126.5(VCP):c.453T>G (p.Ile151Met) rs1828808459
NM_007126.5(VCP):c.45C>T (p.Ala15=) rs2131041103
NM_007126.5(VCP):c.460G>T (p.Val154Phe) rs1587127201
NM_007126.5(VCP):c.463C>A (p.Arg155Ser) rs121909330
NM_007126.5(VCP):c.463C>G (p.Arg155Gly) rs121909330
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.464G>C (p.Arg155Pro) rs121909329
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)
NM_007126.5(VCP):c.467G>T (p.Gly156Val)
NM_007126.5(VCP):c.469G>A (p.Gly157Arg) rs1554668814
NM_007126.5(VCP):c.472A>G (p.Met158Val) rs1554668813
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.479C>T (p.Ala160Val) rs1554668804
NM_007126.5(VCP):c.486G>C (p.Glu162Asp)
NM_007126.5(VCP):c.487T>A (p.Phe163Ile)
NM_007126.5(VCP):c.512G>A (p.Ser171Asn) rs200911363
NM_007126.5(VCP):c.512G>T (p.Ser171Ile) rs200911363
NM_007126.5(VCP):c.522C>T (p.Cys174=)
NM_007126.5(VCP):c.523A>G (p.Ile175Val) rs1828806031
NM_007126.5(VCP):c.531T>A (p.Ala177=) rs1032568811
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_007126.5(VCP):c.555A>G (p.Glu185=)
NM_007126.5(VCP):c.565A>G (p.Ile189Val)
NM_007126.5(VCP):c.571C>A (p.Arg191=)
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) rs121909334
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.577-2A>G rs1828784075
NM_007126.5(VCP):c.584A>G (p.Glu195Gly)
NM_007126.5(VCP):c.605G>A (p.Gly202Glu)
NM_007126.5(VCP):c.606G>A (p.Gly202=)
NM_007126.5(VCP):c.627C>T (p.Cys209=)
NM_007126.5(VCP):c.636G>C (p.Gln212His)
NM_007126.5(VCP):c.648A>G (p.Ile216Met) rs1828783140
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.677A>T (p.His226Leu) rs2131035134
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.722T>C (p.Ile241Thr)
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.760A>T (p.Ile254Phe)
NM_007126.5(VCP):c.767G>A (p.Arg256Gln) rs1828757317
NM_007126.5(VCP):c.792C>T (p.Ala264=) rs1828756572
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del)
NM_007126.5(VCP):c.807C>T (p.Ile269=)
NM_007126.5(VCP):c.810T>C (p.Asn270=) rs1372175418
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+2_811+3inv
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.82G>A (p.Val28Ile) rs1480586527
NM_007126.5(VCP):c.840T>C (p.Gly280=)
NM_007126.5(VCP):c.84T>A (p.Val28=) rs1587130660
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.94A>G (p.Ile32Val) rs1828872947
NM_007126.5(VCP):c.951T>C (p.His317=)
NM_007126.5(VCP):c.982T>C (p.Leu328=) rs1025521461
NM_007126.5(VCP):c.995T>C (p.Met332Thr) rs1828737891
NM_007126.5(VCP):c.9T>C (p.Ser3=)
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg) rs1553159719
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) rs1570725407
NM_007375.4(TARDBP):c.111G>A (p.Gly37=) rs1553158651
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) rs1643661597
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter) rs147795017
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp) rs1557660662
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
NM_007375.4(TARDBP):c.114G>A (p.Ala38=)
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) rs2100857066
NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)
NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)
NM_007375.4(TARDBP):c.1173A>G (p.Ala391=)
NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu) rs80356743
NM_007375.4(TARDBP):c.1179G>A (p.Ser393=)
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp) rs2100857132
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
NM_007375.4(TARDBP):c.189C>T (p.Ala63=) rs1399738284
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp) rs1643465434
NM_007375.4(TARDBP):c.238+16G>T
NM_007375.4(TARDBP):c.238+21dup
NM_007375.4(TARDBP):c.239-12C>T
NM_007375.4(TARDBP):c.239-18T>C
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile) rs1553159049
NM_007375.4(TARDBP):c.273A>G (p.Ser91=)
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
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.505_506delinsTT (p.Asp169Phe)
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.587G>A (p.Gly196Glu)
NM_007375.4(TARDBP):c.609T>G (p.Thr203=)
NM_007375.4(TARDBP):c.636T>G (p.Ser212=)
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
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.776A>G (p.Asn259Ser)
NM_007375.4(TARDBP):c.780C>T (p.Ala260=)
NM_007375.4(TARDBP):c.792C>T (p.His264=)
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768
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.941G>C (p.Gly314Ala)
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)
NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)
NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp) rs1304706298
NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)
NM_007375.4(TARDBP):c.990A>G (p.Leu330=)
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn) rs80356728
NM_013254.3(TBK1):c.1644-5_1644-2del rs755646937
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
NM_013254.4(TBK1):c.1089T>C (p.Pro363=)
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser) rs2136056628
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile) rs1592369002
NM_013254.4(TBK1):c.1151G>A (p.Arg384Gln)
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter) rs765106259
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp) rs1267274595
NM_013254.4(TBK1):c.1189+1G>A rs2136078402
NM_013254.4(TBK1):c.1189+1G>T rs2136078402
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
NM_013254.4(TBK1):c.1206A>G (p.Val402=)
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
NM_013254.4(TBK1):c.1234del (p.Ala412fs)
NM_013254.4(TBK1):c.1248+18T>A
NM_013254.4(TBK1):c.1249-5A>C
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
NM_013254.4(TBK1):c.1260G>C (p.Gly420=)
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile) rs201332131
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer) rs2040816609
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln) rs2136079527
NM_013254.4(TBK1):c.1323G>A (p.Lys441=)
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter) rs2136079548
NM_013254.4(TBK1):c.1338G>T (p.Leu446=)
NM_013254.4(TBK1):c.1340+3A>G
NM_013254.4(TBK1):c.1341-10_1341-9del
NM_013254.4(TBK1):c.1341-1G>C
NM_013254.4(TBK1):c.1341-3del rs201728462
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs) rs876657404
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu) rs1565821771
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
NM_013254.4(TBK1):c.1382dup (p.Thr462fs) rs1178717934
NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser) rs369875862
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala) rs2136056652
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.1443-1G>T
NM_013254.4(TBK1):c.1443-6A>G rs1033675488
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser) rs2136082596
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala) rs1010930015
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
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>G (p.Ile522Met) rs375618295
NM_013254.4(TBK1):c.1566C>T (p.Ile522=) rs375618295
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys) rs922333386
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro) rs1192216525
NM_013254.4(TBK1):c.1602C>T (p.Asp534=)
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp) rs2040917422
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs)
NM_013254.4(TBK1):c.1643+19C>T
NM_013254.4(TBK1):c.1643+20G>A
NM_013254.4(TBK1):c.1644-2A>T
NM_013254.4(TBK1):c.1656A>G (p.Leu552=)
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys) rs776059942
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
NM_013254.4(TBK1):c.1720+16T>A
NM_013254.4(TBK1):c.1720+2dup rs2136087264
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly) rs767446906
NM_013254.4(TBK1):c.172G>A (p.Val58Met) rs1042991833
NM_013254.4(TBK1):c.1740del (p.Glu580fs) rs2136087722
NM_013254.4(TBK1):c.1760+4_1760+7del rs753802322
NM_013254.4(TBK1):c.1761-3C>G
NM_013254.4(TBK1):c.1770G>A (p.Leu590=) rs753990284
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs) rs2040932099
NM_013254.4(TBK1):c.1785A>G (p.Thr595=)
NM_013254.4(TBK1):c.1796C>T (p.Thr599Met)
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu) rs1565824642
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile) rs2136088188
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs) rs2136088227
NM_013254.4(TBK1):c.1862+13_1862+15del
NM_013254.4(TBK1):c.1862+7A>C rs2040933572
NM_013254.4(TBK1):c.1863-1G>A
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile) rs2136088345
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
NM_013254.4(TBK1):c.1887G>C (p.Gln629His) rs752047246
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del) rs2136088359
NM_013254.4(TBK1):c.1917T>C (p.Asp639=)
NM_013254.4(TBK1):c.1917del (p.Asp639fs)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter) rs2136088420
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn) rs1592376939
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del) rs141727722
NM_013254.4(TBK1):c.1956del (p.Asn652fs)
NM_013254.4(TBK1):c.1959+13G>A
NM_013254.4(TBK1):c.1959+17A>C
NM_013254.4(TBK1):c.1960-10G>T rs371275822
NM_013254.4(TBK1):c.1960-20_1960-19insC
NM_013254.4(TBK1):c.1960-2A>T
NM_013254.4(TBK1):c.1960-7G>T rs768189768
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs) rs2136088934
NM_013254.4(TBK1):c.198T>C (p.Asn66=)
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
NM_013254.4(TBK1):c.201T>C (p.Ile67=)
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly) rs2136089009
NM_013254.4(TBK1):c.2043C>T (p.Asn681=) rs759638468
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser) rs1306279522
NM_013254.4(TBK1):c.204C>G (p.Val68=)
NM_013254.4(TBK1):c.2066+11C>G
NM_013254.4(TBK1):c.2067-7T>A rs1187318445
NM_013254.4(TBK1):c.2067-7_2067-3del
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser) rs2136089194
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del) rs2040947403
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
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.2139G>T (p.Arg713Ser) rs2136092217
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val) rs2136092255
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser) rs2136092274
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
NM_013254.4(TBK1):c.228+19A>G
NM_013254.4(TBK1):c.228+4A>C rs2136056750
NM_013254.4(TBK1):c.229-14_229-13insC
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_013254.4(TBK1):c.229-5_229-4dup
NM_013254.4(TBK1):c.229-9_229-8insG rs2136060930
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
NM_013254.4(TBK1):c.270A>C (p.Pro90=)
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile) rs767134050
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
NM_013254.4(TBK1):c.300_309del (p.Ser102fs)
NM_013254.4(TBK1):c.312C>T (p.Ala104=)
NM_013254.4(TBK1):c.330T>C (p.Ser110=) rs1592356440
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter) rs757203783
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
NM_013254.4(TBK1):c.358+13A>G
NM_013254.4(TBK1):c.358+17A>G
NM_013254.4(TBK1):c.358+4T>C
NM_013254.4(TBK1):c.358+5G>A rs2136061124
NM_013254.4(TBK1):c.358+9_358+12del rs769662604
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
NM_013254.4(TBK1):c.402T>C (p.Arg134=)
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr) rs2136052738
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys) rs55824172
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)
NM_013254.4(TBK1):c.511G>A (p.Val171Ile) rs2136063606
NM_013254.4(TBK1):c.519del (p.Tyr174fs)
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile) rs2136063629
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
NM_013254.4(TBK1):c.535T>C (p.Tyr179His) rs2136063631
NM_013254.4(TBK1):c.541-18T>C
NM_013254.4(TBK1):c.541-3T>G rs747738866
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013254.4(TBK1):c.541-9dup rs369498196
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu) rs781700275
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile) rs2136069875
NM_013254.4(TBK1):c.639T>C (p.His213=)
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp) rs576726084
NM_013254.4(TBK1):c.701+16A>T rs2136069949
NM_013254.4(TBK1):c.701+1G>A rs1592362719
NM_013254.4(TBK1):c.701+2T>G
NM_013254.4(TBK1):c.722del (p.Lys241fs)
NM_013254.4(TBK1):c.729T>G (p.Ser243=)
NM_013254.4(TBK1):c.72dup (p.Arg25fs) rs1279619378
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
NM_013254.4(TBK1):c.744A>C (p.Gly248=)
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr) rs1555203984
NM_013254.4(TBK1):c.780T>C (p.Ser260=)
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
NM_013254.4(TBK1):c.812+18A>G
NM_013254.4(TBK1):c.813-3T>C rs2040770701
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.82_83delinsTT (p.His28Phe) rs2136052800
NM_013254.4(TBK1):c.87+17C>T
NM_013254.4(TBK1):c.88-4A>G
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) rs1284582102
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)
NM_013254.4(TBK1):c.992+13A>G
NM_013254.4(TBK1):c.992+21_992+23del rs138753162
NM_013444.4(UBQLN2):c.1001C>T (p.Thr334Met)
NM_013444.4(UBQLN2):c.1011C>T (p.Ser337=) rs972652102
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile) rs917131397
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn)
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile)
NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=)
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile) rs748840115
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly) rs2068634857
NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser)
NM_013444.4(UBQLN2):c.138C>T (p.Phe46=)
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)
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.1464T>C (p.Ala488=)
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu) rs756653207
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu)
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala) rs2146636525
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser) rs387906710
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His) rs387906709
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg) rs387906709
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) rs387906709
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)
NM_013444.4(UBQLN2):c.150G>A (p.Glu50=)
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)
NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=)
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)
NM_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu) rs1602589802
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro)
NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=)
NM_013444.4(UBQLN2):c.159G>T (p.Ser53=)
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met)
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)
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.1722G>T (p.Gln574His)
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)
NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=)
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)
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.278A>G (p.His93Arg) rs2146635699
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln) rs1602589042
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp)
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)
NM_013444.4(UBQLN2):c.399C>T (p.Ser133=)
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)
NM_013444.4(UBQLN2):c.462T>C (p.Leu154=)
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn)
NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe)
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val) rs2146635566
NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met)
NM_013444.4(UBQLN2):c.648G>T (p.Gln216His)
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr) rs1360902821
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn)
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu)
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val)
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr) rs749463696
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg) rs2146636094
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.938G>A (p.Arg313His) rs2068632850
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu) rs1555977386
NM_013444.4(UBQLN2):c.969G>A (p.Pro323=)
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)
NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)
NM_014043.4(CHMP2B):c.127-7C>T
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
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.253A>G (p.Met85Val)
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu) rs1706202120
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr) rs2106908498
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=) rs778796624
NM_014043.4(CHMP2B):c.321+10A>C
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys) rs747904374
NM_014043.4(CHMP2B):c.34+14C>G
NM_014043.4(CHMP2B):c.34+6T>C
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)
NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val) rs1706285788
NM_014043.4(CHMP2B):c.424+19_424+21del rs2106913116
NM_014043.4(CHMP2B):c.424+20A>C
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp) rs2106916834
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
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.535del (p.Ala179fs)
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp) rs2106917283
NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln) rs750217435
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser) rs775142652
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
NM_015046.7(SETX):c.1010+14A>C
NM_015046.7(SETX):c.1010+4_1010+7dup rs1222378139
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
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.1146G>A (p.Met382Ile)
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) rs1554821963
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
NM_015046.7(SETX):c.1260T>C (p.Asp420=) rs2131462924
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
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.1397T>G (p.Ile466Ser) rs2131461800
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr) rs754200234
NM_015046.7(SETX):c.1423T>C (p.Leu475=)
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1443T>C (p.Ser481=)
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro) rs2131461009
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
NM_015046.7(SETX):c.14G>C (p.Cys5Ser) rs1589791895
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
NM_015046.7(SETX):c.1536C>T (p.Ser512=) rs2131460559
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) rs2131460183
NM_015046.7(SETX):c.1576A>G (p.Met526Val) rs762013471
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp) rs1847120441
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.1667A>G (p.Lys556Arg)
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.173A>G (p.His58Arg)
NM_015046.7(SETX):c.174T>C (p.His58=) rs1470975448
NM_015046.7(SETX):c.177+6A>G rs2131575018
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
NM_015046.7(SETX):c.178-19C>T
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) rs143340285
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr) rs768673354
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) rs998278975
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
NM_015046.7(SETX):c.197C>T (p.Thr66Ile)
NM_015046.7(SETX):c.1986C>T (p.Asn662=) rs1307680734
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys) rs1339144218
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
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.2057G>T (p.Gly686Val)
NM_015046.7(SETX):c.207C>G (p.Leu69=)
NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
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.2177G>A (p.Cys726Tyr)
NM_015046.7(SETX):c.2190T>C (p.Asn730=)
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly) rs2131454695
NM_015046.7(SETX):c.2232A>C (p.Thr744=) rs749481788
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
NM_015046.7(SETX):c.2267A>T (p.Glu756Val) rs202036078
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) rs1554821462
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
NM_015046.7(SETX):c.2316T>C (p.Leu772=)
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu) rs2131453786
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) rs1554821445
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
NM_015046.7(SETX):c.2380G>A (p.Val794Ile)
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2415C>T (p.Val805=)
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys) rs544815791
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
NM_015046.7(SETX):c.24G>A (p.Thr8=)
NM_015046.7(SETX):c.2516A>T (p.His839Leu) rs1847047743
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg) rs774820992
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu) rs2131450530
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
NM_015046.7(SETX):c.2646C>T (p.Asn882=)
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
NM_015046.7(SETX):c.2668C>T (p.His890Tyr)
NM_015046.7(SETX):c.267A>C (p.Ile89=)
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)
NM_015046.7(SETX):c.273C>T (p.Asp91=)
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn) rs1258279869
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser) rs778882347
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
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.2907T>A (p.Ala969=)
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.2972T>C (p.Val991Ala)
NM_015046.7(SETX):c.2988A>G (p.Arg996=) rs1358681495
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)
NM_015046.7(SETX):c.3018A>T (p.Gly1006=)
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly) rs768510428
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val) rs931570379
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
NM_015046.7(SETX):c.3265G>A (p.Val1089Met) rs917637229
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser) rs545072717
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp) rs1278965355
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala) rs866546546
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
NM_015046.7(SETX):c.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
NM_015046.7(SETX):c.34G>T (p.Ala12Ser)
NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala) rs141996565
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr) rs1846954116
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn) rs149558692
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala) rs1846942479
NM_015046.7(SETX):c.3651G>A (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe) rs2131440671
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter) rs2131440608
NM_015046.7(SETX):c.3699C>T (p.Ile1233=)
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) rs1467137301
NM_015046.7(SETX):c.3732A>G (p.Lys1244=)
NM_015046.7(SETX):c.3737A>C (p.His1246Pro) rs2131440106
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del) rs2131439346
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
NM_015046.7(SETX):c.387_388+2del
NM_015046.7(SETX):c.388+19C>G
NM_015046.7(SETX):c.388+19C>T
NM_015046.7(SETX):c.388+8T>G
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.389-9del rs534931548
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.3966C>T (p.Thr1322=)
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)
NM_015046.7(SETX):c.407C>T (p.Ala136Val)
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
NM_015046.7(SETX):c.4210G>A (p.Val1404Ile)
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)
NM_015046.7(SETX):c.4516A>G (p.Met1506Val)
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys) rs199974622
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)
NM_015046.7(SETX):c.459T>C (p.His153=) rs774939461
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn) rs746807833
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) rs1554820219
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys) rs2131431252
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) rs1554820196
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu) rs776238150
NM_015046.7(SETX):c.4679dup (p.Asn1560fs) rs746973259
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr) rs781383567
NM_015046.7(SETX):c.474G>A (p.Leu158=)
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser) rs1846817047
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg) rs150918808
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
NM_015046.7(SETX):c.4961A>G (p.Asn1654Ser)
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
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.4991C>T (p.Pro1664Leu)
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
NM_015046.7(SETX):c.5019del (p.Val1674fs)
NM_015046.7(SETX):c.502C>T (p.Arg168Trp)
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5097C>T (p.Asp1699=) rs1163054039
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
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.5211T>G (p.Phe1737Leu) rs1846757741
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5275-14del rs761232500
NM_015046.7(SETX):c.528A>G (p.Arg176=)
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
NM_015046.7(SETX):c.5374+20A>G
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
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.5378A>T (p.Tyr1793Phe)
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu) rs2131306081
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.5587A>T (p.Thr1863Ser)
NM_015046.7(SETX):c.5604G>A (p.Pro1868=) rs373607369
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)
NM_015046.7(SETX):c.5637A>T (p.Val1879=) rs2131295454
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
NM_015046.7(SETX):c.567A>G (p.Leu189=)
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro) rs1844774142
NM_015046.7(SETX):c.5781+7G>A
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) rs1443102808
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
NM_015046.7(SETX):c.5835A>G (p.Ala1945=) rs1298267771
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) rs1847622210
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) rs1847622037
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro) rs761031238
NM_015046.7(SETX):c.5949+13G>A
NM_015046.7(SETX):c.5949+13G>T rs2131289221
NM_015046.7(SETX):c.5949+4_5949+7del rs1844702677
NM_015046.7(SETX):c.5949G>A (p.Glu1983=) rs2131289331
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.5986G>T (p.Ala1996Ser) rs2131284986
NM_015046.7(SETX):c.5994C>T (p.Ile1998=)
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
NM_015046.7(SETX):c.6106+8dup
NM_015046.7(SETX):c.6107-19C>T
NM_015046.7(SETX):c.6107-3C>T
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys) rs762479596
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)
NM_015046.7(SETX):c.6159T>C (p.Asn2053=) rs2131248104
NM_015046.7(SETX):c.617A>C (p.Glu206Ala) rs759880306
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) rs2131247894
NM_015046.7(SETX):c.6208+17G>T
NM_015046.7(SETX):c.6208+2dup
NM_015046.7(SETX):c.6209-12T>G
NM_015046.7(SETX):c.6209-18_6209-15del
NM_015046.7(SETX):c.6209-19dup
NM_015046.7(SETX):c.6209-7_6209-6insG rs2131246566
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) rs1844047388
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.6314G>A (p.Arg2105Gln)
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
NM_015046.7(SETX):c.6324+5C>G
NM_015046.7(SETX):c.6325-5dup
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val) rs1589647043
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly) rs957607977
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.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) rs1387036733
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) rs756600708
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys) rs1843647719
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.6554A>T (p.Gln2185Leu) rs1843510567
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
NM_015046.7(SETX):c.6610C>T (p.Leu2204=) rs2131200445
NM_015046.7(SETX):c.6654+5G>A rs1843497922
NM_015046.7(SETX):c.6654+9_6654+11del
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
NM_015046.7(SETX):c.667C>G (p.Leu223Val) rs774068411
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.6685A>G (p.Met2229Val)
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys) rs2131182464
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6756A>G (p.Leu2252=)
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu) rs1843274414
NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)
NM_015046.7(SETX):c.6808A>C (p.Asn2270His) rs1843272035
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala) rs1843271572
NM_015046.7(SETX):c.682A>G (p.Met228Val)
NM_015046.7(SETX):c.6842+11dup
NM_015046.7(SETX):c.6842+15T>A
NM_015046.7(SETX):c.6842+19T>C
NM_015046.7(SETX):c.6842+1G>T rs1038776365
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-3_6843-1del rs1186690391
NM_015046.7(SETX):c.6843-4A>T rs1466427179
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6849A>G (p.Thr2283=)
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) rs1323126988
NM_015046.7(SETX):c.6936-8T>A
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
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.7090G>A (p.Asp2364Asn)
NM_015046.7(SETX):c.7100+19T>C
NM_015046.7(SETX):c.7100+2T>C
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7100+7C>T
NM_015046.7(SETX):c.7101-16T>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.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.7164G>A (p.Thr2388=) rs368602563
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
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.718+3G>C rs2131504173
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.7190G>A (p.Gly2397Asp) rs2131148064
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe) rs150489999
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.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7200-3T>C
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val) rs1402767850
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
NM_015046.7(SETX):c.727A>G (p.Met243Val)
NM_015046.7(SETX):c.7281C>G (p.Thr2427=) rs1482971726
NM_015046.7(SETX):c.7288-14C>T
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
NM_015046.7(SETX):c.7370A>G (p.His2457Arg) rs753051382
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
NM_015046.7(SETX):c.7427C>A (p.Pro2476His) rs767515528
NM_015046.7(SETX):c.742C>T (p.Leu248Phe) rs748358261
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) rs771027936
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys) rs2131114345
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)
NM_015046.7(SETX):c.7458C>G (p.Pro2486=) rs2131114205
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) rs1564464193
NM_015046.7(SETX):c.7494A>C (p.Gly2498=) rs1404779640
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
NM_015046.7(SETX):c.7530C>G (p.His2510Gln) rs1303389955
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) rs557347174
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys) rs2131113325
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp) rs2131113303
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
NM_015046.7(SETX):c.75T>G (p.Thr25=) rs1589791526
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg) rs2131113093
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
NM_015046.7(SETX):c.763T>A (p.Ser255Thr)
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter) rs1039417117
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
NM_015046.7(SETX):c.7680C>A (p.Pro2560=)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
NM_015046.7(SETX):c.7713T>C (p.Pro2571=) rs2131112226
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe) rs144121978
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly) rs2131112014
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
NM_015046.7(SETX):c.7764G>A (p.Gln2588=)
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer) rs2131111712
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
NM_015046.7(SETX):c.7810G>A (p.Val2604Met) rs757554863
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr) rs979454428
NM_015046.7(SETX):c.784A>G (p.Lys262Glu) rs2131492208
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) rs778362262
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.7924_7925delinsTT (p.Glu2642Leu)
NM_015046.7(SETX):c.792T>C (p.Asn264=)
NM_015046.7(SETX):c.7941T>C (p.Gly2647=) rs1471003365
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.7984del (p.Arg2662fs) rs2131109788
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) rs749325764
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) rs901741485
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.878T>G (p.Phe293Cys)
NM_015046.7(SETX):c.879T>C (p.Phe293=)
NM_015046.7(SETX):c.896G>A (p.Arg299His)
NM_015046.7(SETX):c.912C>T (p.Val304=) rs1473756878
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
NM_015046.7(SETX):c.951C>T (p.Thr317=) rs1025452911
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
NM_018834.6(MATR3):c.1010A>G (p.His337Arg) rs553687055
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
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.1090C>T (p.His364Tyr) rs1561938220
NM_018834.6(MATR3):c.1129+7A>G rs1477606021
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
NM_018834.6(MATR3):c.1130-14C>G
NM_018834.6(MATR3):c.1130-15T>A
NM_018834.6(MATR3):c.1130-15T>C
NM_018834.6(MATR3):c.1130-18C>A rs1755284160
NM_018834.6(MATR3):c.1130-8C>G
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
NM_018834.6(MATR3):c.1182+11A>G rs774114454
NM_018834.6(MATR3):c.1182+17T>G
NM_018834.6(MATR3):c.1182+4A>C rs2151988816
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.1246T>A (p.Leu416Ile)
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
NM_018834.6(MATR3):c.1263A>G (p.Pro421=) rs1581248568
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
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.1328C>A (p.Thr443Asn) rs2151995266
NM_018834.6(MATR3):c.1332A>G (p.Thr444=)
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
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.1486C>A (p.Arg496Ser)
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
NM_018834.6(MATR3):c.153C>T (p.Arg51=)
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn) rs1581251198
NM_018834.6(MATR3):c.1596A>G (p.Lys532=)
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn) rs1033118784
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>C rs199789148
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.1617G>A (p.Met539Ile) rs2152007107
NM_018834.6(MATR3):c.1629A>G (p.Glu543=)
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser) rs2152007192
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
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.1736T>A (p.Ile579Asn)
NM_018834.6(MATR3):c.1778+17T>C rs776365113
NM_018834.6(MATR3):c.1778+19del rs753454728
NM_018834.6(MATR3):c.1779-19T>G
NM_018834.6(MATR3):c.1779-20GT[2] rs779005896
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
NM_018834.6(MATR3):c.1803C>G (p.Gly601=) rs746452114
NM_018834.6(MATR3):c.1812T>A (p.Ser604=)
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
NM_018834.6(MATR3):c.1839T>C (p.Asp613=)
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg) rs2152009933
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr) rs1357612214
NM_018834.6(MATR3):c.1854T>A (p.Thr618=)
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg) rs2152010076
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
NM_018834.6(MATR3):c.1899A>G (p.Glu633=)
NM_018834.6(MATR3):c.18G>A (p.Gln6=)
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp) rs1755638457
NM_018834.6(MATR3):c.1908G>A (p.Glu636=)
NM_018834.6(MATR3):c.190T>C (p.Leu64=) rs775134951
NM_018834.6(MATR3):c.1912G>C (p.Asp638His) rs1554148872
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala) rs2152010206
NM_018834.6(MATR3):c.1914C>T (p.Asp638=) rs369312174
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser) rs765603068
NM_018834.6(MATR3):c.1920G>A (p.Lys640=)
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
NM_018834.6(MATR3):c.1929G>C (p.Gln643His) rs553655919
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu) rs749026971
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
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.2035A>G (p.Thr679Ala)
NM_018834.6(MATR3):c.2038G>C (p.Asp680His) rs752161415
NM_018834.6(MATR3):c.2046T>A (p.Ala682=)
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr) rs765251685
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
NM_018834.6(MATR3):c.2076A>G (p.Lys692=)
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn) rs2152010949
NM_018834.6(MATR3):c.2148+14C>G
NM_018834.6(MATR3):c.2148+17T>A
NM_018834.6(MATR3):c.2148+3A>G
NM_018834.6(MATR3):c.2148+8_2148+11del rs745750214
NM_018834.6(MATR3):c.2148+9A>G
NM_018834.6(MATR3):c.2149-5T>C
NM_018834.6(MATR3):c.2149-8A>G
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
NM_018834.6(MATR3):c.2160C>T (p.Ile720=)
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
NM_018834.6(MATR3):c.2170G>C (p.Asp724His) rs1452903586
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val) rs1235948155
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys) rs772833565
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
NM_018834.6(MATR3):c.2187A>G (p.Ala729=)
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly) rs762668138
NM_018834.6(MATR3):c.2190G>A (p.Ala730=)
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
NM_018834.6(MATR3):c.2199T>C (p.Asn733=)
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
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.2237A>G (p.Glu746Gly)
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del) rs1016579955
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
NM_018834.6(MATR3):c.2301T>C (p.Asp767=) rs748749843
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn) rs1755815403
NM_018834.6(MATR3):c.2313C>T (p.Asp771=)
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
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.2323A>G (p.Ile775Val)
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser) rs370051410
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
NM_018834.6(MATR3):c.2331T>C (p.Asp777=)
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
NM_018834.6(MATR3):c.2371+10A>G
NM_018834.6(MATR3):c.2371+13T>G rs2152022664
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
NM_018834.6(MATR3):c.2372-4C>T
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
NM_018834.6(MATR3):c.2424C>G (p.Leu808=) rs2152024327
NM_018834.6(MATR3):c.2448A>G (p.Ala816=)
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg) rs2152024424
NM_018834.6(MATR3):c.2493+12T>A
NM_018834.6(MATR3):c.2493+19C>T rs2152024488
NM_018834.6(MATR3):c.2493+3A>G rs2152024439
NM_018834.6(MATR3):c.2494-12_2494-11del rs756391139
NM_018834.6(MATR3):c.2494-14_2494-11del
NM_018834.6(MATR3):c.2494-8_2494-5del
NM_018834.6(MATR3):c.2494-9T>C
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu) rs2152033705
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del) rs1232740498
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn) rs1460343731
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
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.449C>G (p.Thr150Ser) rs2151960855
NM_018834.6(MATR3):c.459C>G (p.Gly153=)
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_018834.6(MATR3):c.462T>C (p.Pro154=)
NM_018834.6(MATR3):c.474T>C (p.Tyr158=)
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe) rs1191529191
NM_018834.6(MATR3):c.493_495del (p.Ala165del) rs760040641
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp) rs138894013
NM_018834.6(MATR3):c.504G>A (p.Glu168=)
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser) rs2151961098
NM_018834.6(MATR3):c.628_630del (p.Glu210del) rs1754795693
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.687G>T (p.Arg229Ser)
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu) rs2151961434
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
NM_018834.6(MATR3):c.747G>A (p.Glu249=)
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile) rs1554146560
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.815C>G (p.Ala272Gly)
NM_018834.6(MATR3):c.81C>G (p.Gly27=)
NM_018834.6(MATR3):c.832A>G (p.Ile278Val) rs765718462
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu) rs1318047828
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe) rs1754770320
NM_018834.6(MATR3):c.870C>T (p.Pro290=)
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
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.952C>A (p.Arg318=)
NM_018834.6(MATR3):c.966T>C (p.Leu322=)
NM_018834.6(MATR3):c.974+20T>C
NM_018834.6(MATR3):c.975-9T>G
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr) rs752472094
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu) rs1569151061
NM_213720.3(CHCHD10):c.129G>A (p.Gly43=)
NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys)
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
NM_213720.3(CHCHD10):c.159A>G (p.Ala53=)
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
NM_213720.3(CHCHD10):c.162G>T (p.Gly54=)
NM_213720.3(CHCHD10):c.168C>G (p.Ala56=) rs13053635
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) rs781304084
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) rs730880031
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) rs1926926045
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) rs1926925550
NM_213720.3(CHCHD10):c.207G>A (p.Leu69=)
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg) rs2145926804
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) rs542541060
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
NM_213720.3(CHCHD10):c.21C>T (p.Ser7=) rs984321947
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) rs767069606
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.235G>A (p.Glu79Lys) rs1555925855
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
NM_213720.3(CHCHD10):c.24G>A (p.Ala8=) rs1926992574
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
NM_213720.3(CHCHD10):c.261+10G>C
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
NM_213720.3(CHCHD10):c.261+17A>G rs754940184
NM_213720.3(CHCHD10):c.261+7A>G rs2145926622
NM_213720.3(CHCHD10):c.262-11T>A
NM_213720.3(CHCHD10):c.262-14C>T rs1419450340
NM_213720.3(CHCHD10):c.262-18C>T
NM_213720.3(CHCHD10):c.262-3C>G rs867521564
NM_213720.3(CHCHD10):c.262-4C>G
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) rs1926806684
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) rs564469294
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter) rs1926798746
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg) rs1348340557
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) rs1926995828
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu) rs776781535
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val) rs2145924358
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) rs951686050
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) rs750293377
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg) rs964013488
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn) rs1926782349
NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)
NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) rs1601354726
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg) rs2145924084
NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val) rs1926990244
NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
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.41+9G>A
NM_213720.3(CHCHD10):c.410-13C>T
NM_213720.3(CHCHD10):c.410-15C>G
NM_213720.3(CHCHD10):c.410-3C>G
NM_213720.3(CHCHD10):c.410-3C>T rs767630947
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.42-6C>G
NM_213720.3(CHCHD10):c.42-9C>T
NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr) rs1294246273
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) rs1447212146
NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) rs730880030
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu) rs2145927350
NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)
NM_213720.3(CHCHD10):c.54G>A (p.Ala18=) rs1344583612
NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) rs1926950297
NM_213720.3(CHCHD10):c.57C>T (p.Pro19=) rs1381948310
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) rs917149626
NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)
NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) rs766426370
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
NM_213720.3(CHCHD10):c.9G>A (p.Arg3=) rs1165025561

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