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
|
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|
NM_001008212.2(OPTN):c.369+11C>T
|
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|
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=)
|
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|
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
|
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|
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
|
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|
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
|
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|
NM_001008212.2(OPTN):c.435C>T (p.Thr145=)
|
rs1042488570
|
|
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
|
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|
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
|
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|
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=)
|
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|
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
|
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|
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
|
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|
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
|
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|
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
|
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|
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
|
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|
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
|
|
|
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
|
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|
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
|
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NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
|
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|
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
|
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|
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
|
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|
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)
|
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NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
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NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)
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NM_004082.5(DCTN1):c.1701+10G>C
|
rs2103643570
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NM_004082.5(DCTN1):c.1702-19C>T
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NM_004082.5(DCTN1):c.1702-20C>T
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NM_004082.5(DCTN1):c.1702-3C>A
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NM_004082.5(DCTN1):c.1702-7C>G
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NM_004082.5(DCTN1):c.1702G>A (p.Ala568Thr)
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NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn)
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rs1553464828
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NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr)
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NM_004082.5(DCTN1):c.1707T>C (p.Ile569=)
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rs765410716
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NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)
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NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr)
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rs2103640952
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NM_004082.5(DCTN1):c.1741G>T (p.Ala581Ser)
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NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly)
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rs1288295388
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NM_004082.5(DCTN1):c.1750C>A (p.His584Asn)
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rs2103640754
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NM_004082.5(DCTN1):c.1752C>A (p.His584Gln)
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rs1345909454
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NM_004082.5(DCTN1):c.1758C>A (p.Ser586=)
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rs773517017
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NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)
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rs121909342
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NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)
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rs121909342
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NM_004082.5(DCTN1):c.1761G>C (p.Leu587=)
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NM_004082.5(DCTN1):c.1774A>C (p.Met592Leu)
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NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser)
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NM_004082.5(DCTN1):c.1788C>A (p.Phe596Leu)
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NM_004082.5(DCTN1):c.178G>A (p.Val60Met)
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rs74768853
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NM_004082.5(DCTN1):c.1799G>A (p.Gly600Asp)
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NM_004082.5(DCTN1):c.1807C>A (p.His603Asn)
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rs1558939544
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NM_004082.5(DCTN1):c.1808A>G (p.His603Arg)
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NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly)
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rs1674611581
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NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr)
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NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)
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NM_004082.5(DCTN1):c.1834A>T (p.Met612Leu)
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NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys)
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rs1674609133
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NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)
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NM_004082.5(DCTN1):c.1844T>A (p.Leu615His)
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rs1674608736
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NM_004082.5(DCTN1):c.1854+10A>G
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NM_004082.5(DCTN1):c.1854+18C>T
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NM_004082.5(DCTN1):c.1854+20T>A
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rs369606521
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NM_004082.5(DCTN1):c.1854+9A>G
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NM_004082.5(DCTN1):c.1855-7C>T
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rs2103634309
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NM_004082.5(DCTN1):c.1863G>C (p.Leu621=)
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rs2103634135
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NM_004082.5(DCTN1):c.1867C>A (p.Arg623=)
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rs764568642
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NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter)
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rs1674561364
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NM_004082.5(DCTN1):c.187G>A (p.Asp63Asn)
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NM_004082.5(DCTN1):c.1882_1884del (p.Glu628del)
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NM_004082.5(DCTN1):c.1902G>T (p.Glu634Asp)
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NM_004082.5(DCTN1):c.1904A>G (p.Asn635Ser)
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NM_004082.5(DCTN1):c.1912G>A (p.Glu638Lys)
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NM_004082.5(DCTN1):c.1912G>C (p.Glu638Gln)
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NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)
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NM_004082.5(DCTN1):c.1916G>A (p.Arg639Gln)
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NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu)
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rs201095249
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NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter)
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rs866457869
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NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln)
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rs555733849
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NM_004082.5(DCTN1):c.1931G>T (p.Gly644Val)
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NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile)
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rs1558938711
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NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg)
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rs2103632771
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NM_004082.5(DCTN1):c.1986G>A (p.Leu662=)
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rs1409478361
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NM_004082.5(DCTN1):c.1995C>A (p.Ala665=)
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rs767698839
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NM_004082.5(DCTN1):c.2004C>T (p.His668=)
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NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)
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rs886039228
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NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
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NM_004082.5(DCTN1):c.2015+19C>A
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NM_004082.5(DCTN1):c.2015+1G>C
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rs2103632452
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NM_004082.5(DCTN1):c.2015+5G>A
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rs770696267
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NM_004082.5(DCTN1):c.2016-12T>C
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NM_004082.5(DCTN1):c.2016-3T>C
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NM_004082.5(DCTN1):c.2016-6C>A
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rs1573155729
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NM_004082.5(DCTN1):c.2020C>A (p.Leu674Ile)
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NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe)
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rs368531137
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NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)
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NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter)
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NM_004082.5(DCTN1):c.2031C>T (p.Cys677=)
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rs112930313
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NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)
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NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)
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NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly)
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rs2103630948
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NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)
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NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn)
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rs72659377
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NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu)
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NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln)
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rs1674536343
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NM_004082.5(DCTN1):c.2080G>A (p.Ala694Thr)
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rs2103630505
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NM_004082.5(DCTN1):c.2088G>A (p.Glu696=)
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NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys)
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rs1674533703
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NM_004082.5(DCTN1):c.2091C>G (p.Arg697=)
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NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
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NM_004082.5(DCTN1):c.2103C>T (p.Phe701=)
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NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe)
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rs374500944
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NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)
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rs67586389
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NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
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NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
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NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
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NM_004082.5(DCTN1):c.2154G>A (p.Glu718=)
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NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
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NM_004082.5(DCTN1):c.2163C>T (p.Thr721=)
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NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
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NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys)
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rs1287560245
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NM_004082.5(DCTN1):c.2184+16T>C
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NM_004082.5(DCTN1):c.2184+19G>A
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rs1349408124
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NM_004082.5(DCTN1):c.2185-15G>C
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NM_004082.5(DCTN1):c.2185-17_2185-14del
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NM_004082.5(DCTN1):c.2185-3C>T
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NM_004082.5(DCTN1):c.2186A>G (p.His729Arg)
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NM_004082.5(DCTN1):c.2194A>G (p.Ser732Gly)
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NM_004082.5(DCTN1):c.2202C>T (p.His734=)
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rs2103626323
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NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
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NM_004082.5(DCTN1):c.2208C>G (p.Ala736=)
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NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
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NM_004082.5(DCTN1):c.2217T>G (p.Pro739=)
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rs1553464448
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NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)
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NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)
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NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)
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NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)
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NM_004082.5(DCTN1):c.2238G>A (p.Leu746=)
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rs1553464441
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NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser)
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rs2103722715
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NM_004082.5(DCTN1):c.2253+13G>A
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NM_004082.5(DCTN1):c.2253+14G>T
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rs2103625486
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NM_004082.5(DCTN1):c.2253+16C>T
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NM_004082.5(DCTN1):c.2254-18A>G
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NM_004082.5(DCTN1):c.2254-8C>T
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rs1674478166
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NM_004082.5(DCTN1):c.2254T>C (p.Phe752Leu)
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NM_004082.5(DCTN1):c.2259G>A (p.Thr753=)
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NM_004082.5(DCTN1):c.2259G>C (p.Thr753=)
|
rs200275059
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NM_004082.5(DCTN1):c.2264dup (p.Ser755fs)
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NM_004082.5(DCTN1):c.2267C>T (p.Ala756Val)
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NM_004082.5(DCTN1):c.2275T>C (p.Cys759Arg)
|
rs2104418971
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NM_004082.5(DCTN1):c.2283T>C (p.Ser761=)
|
rs879630850
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NM_004082.5(DCTN1):c.2292A>G (p.Val764=)
|
rs1290529283
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NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu)
|
rs1410846987
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NM_004082.5(DCTN1):c.2301G>A (p.Leu767=)
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NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
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NM_004082.5(DCTN1):c.2316+15A>G
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NM_004082.5(DCTN1):c.2316+5G>A
|
rs913439751
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NM_004082.5(DCTN1):c.2317-15C>G
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NM_004082.5(DCTN1):c.2317-16T>C
|
rs1674462194
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NM_004082.5(DCTN1):c.2317-19T>C
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NM_004082.5(DCTN1):c.2317-20A>G
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NM_004082.5(DCTN1):c.2317-2A>T
|
rs980571603
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NM_004082.5(DCTN1):c.231G>A (p.Lys77=)
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NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
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NM_004082.5(DCTN1):c.2328G>A (p.Glu776=)
|
rs2104417915
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NM_004082.5(DCTN1):c.232T>C (p.Tyr78His)
|
rs1558948987
|
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NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala)
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NM_004082.5(DCTN1):c.2338A>G (p.Ile780Val)
|
rs1558937413
|
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NM_004082.5(DCTN1):c.2344C>G (p.Leu782Val)
|
rs2104417734
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NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln)
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|
|
NM_004082.5(DCTN1):c.2359C>G (p.Leu787Val)
|
rs2104417597
|
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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)
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|
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
|
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|
NM_004082.5(DCTN1):c.2467-8G>A
|
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|
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=)
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|
|
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
|
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|
NM_004082.5(DCTN1):c.2887-8T>A
|
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|
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
|
|