NM_000391.4(TPP1):c.1075+28T>C
|
rs7943955
|
0.98952
|
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)
|
rs820878
|
0.97243
|
NM_000157.4(GBA1):c.1225-34C>A
|
rs3115534
|
0.94932
|
NM_000521.4(HEXB):c.558+45G>A
|
rs1665894
|
0.89050
|
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)
|
rs1800431
|
0.87890
|
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
|
rs4777502
|
0.87885
|
NM_022089.4(ATP13A2):c.1195+66A>G
|
rs9435736
|
0.80687
|
NM_000391.4(TPP1):c.*1628G>A
|
rs7488
|
0.76311
|
NM_000520.6(HEXA):c.*589T>G
|
rs11629508
|
0.73205
|
NM_000520.6(HEXA):c.*515G>A
|
rs3087652
|
0.73188
|
NM_003793.4(CTSF):c.1401T>C (p.Arg467=)
|
rs572846
|
0.62182
|
NM_003793.4(CTSF):c.762G>A (p.Arg254=)
|
rs545009
|
0.62158
|
NM_003793.4(CTSF):c.219T>C (p.Gly73=)
|
rs1127894
|
0.62142
|
NM_017882.3(CLN6):c.198+104T>C
|
rs8025947
|
0.57324
|
NM_022089.4(ATP13A2):c.705+228A>G
|
rs2871776
|
0.56136
|
NM_000521.4(HEXB):c.-126C>T
|
rs71627068
|
0.55186
|
NM_000521.4(HEXB):c.-122del
|
rs70976124
|
0.55177
|
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)
|
rs2076603
|
0.55111
|
NM_017882.3(CLN6):c.*817C>T
|
rs8142
|
0.51081
|
NM_000391.4(TPP1):c.508+26T>A
|
rs1800738
|
0.47213
|
NM_000391.4(TPP1):c.*1588C>T
|
rs7487
|
0.44955
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
NM_022089.4(ATP13A2):c.3236-30C>T
|
rs2076605
|
0.41484
|
NM_002087.4(GRN):c.*78C>T
|
rs5848
|
0.41298
|
NM_000157.4(GBA1):c.454+47G>A
|
rs2075569
|
0.41024
|
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)
|
rs9435659
|
0.40884
|
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)
|
rs3170740
|
0.40860
|
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)
|
rs9435662
|
0.40757
|
NM_000391.4(TPP1):c.*1118G>C
|
rs1045450
|
0.27054
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
NM_000521.4(HEXB):c.300-32C>T
|
rs35711978
|
0.23197
|
NM_003793.4(CTSF):c.126C>T (p.Pro42=)
|
rs1044522
|
0.22868
|
NM_001909.5(CTSD):c.*67A>G
|
rs12214
|
0.21384
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)
|
rs3738815
|
0.20463
|
NM_002087.4(GRN):c.264+21G>A
|
rs9897526
|
0.19972
|
NM_002087.4(GRN):c.-8+46G>T
|
rs564341543
|
0.19681
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
NM_000391.4(TPP1):c.1075+42C>T
|
rs2072651
|
0.18683
|
NM_025219.3(DNAJC5):c.*2912C>T
|
rs749723
|
0.17505
|
NM_000391.4(TPP1):c.1426-78T>C
|
rs1800723
|
0.15684
|
NM_001909.5(CTSD):c.*597A>C
|
rs8839
|
0.14604
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_000520.6(HEXA):c.1074-94C>A
|
rs2303449
|
0.12787
|
NM_000520.6(HEXA):c.1074-127A>T
|
rs2303450
|
0.12778
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_000391.4(TPP1):c.687+32T>C
|
rs1800710
|
0.08743
|
NM_025219.3(DNAJC5):c.*1442A>G
|
rs61744085
|
0.08435
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
NM_025219.3(DNAJC5):c.*1648C>T
|
rs41278222
|
0.08304
|
NM_025219.3(DNAJC5):c.*2711G>A
|
rs76291580
|
0.08294
|
NM_025219.3(DNAJC5):c.*1106T>G
|
rs11554629
|
0.08271
|
NM_025219.3(DNAJC5):c.*2701C>T
|
rs3206771
|
0.08172
|
NM_025219.3(DNAJC5):c.321+20C>T
|
rs2295436
|
0.07912
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_018941.4(CLN8):c.544-227A>G
|
rs3935479
|
0.07779
|
NM_025219.3(DNAJC5):c.322-10C>T
|
rs78457562
|
0.07717
|
NM_017882.3(CLN6):c.*1015T>C
|
rs6494720
|
0.07280
|
NM_017882.3(CLN6):c.*690A>G
|
rs8033190
|
0.07262
|
NM_018941.4(CLN8):c.544-124T>C
|
rs12546965
|
0.07202
|
NM_003793.4(CTSF):c.722-5C>T
|
rs78871927
|
0.06870
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_001909.5(CTSD):c.353-17C>T
|
rs7126177
|
0.06731
|
NM_025219.3(DNAJC5):c.*1303C>T
|
rs41278214
|
0.06711
|
NM_025219.3(DNAJC5):c.*2725G>A
|
rs11554628
|
0.06691
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
0.06127
|
NM_025219.3(DNAJC5):c.*2208C>T
|
rs11554631
|
0.06117
|
NM_025219.3(DNAJC5):c.*2601C>T
|
rs112103063
|
0.06085
|
NM_000520.6(HEXA):c.806-48G>T
|
rs73440586
|
0.06050
|
NM_000520.6(HEXA):c.1074-43C>G
|
rs16956759
|
0.06040
|
NM_006493.4(CLN5):c.173+18C>T
|
rs112141862
|
0.05807
|
NM_001909.5(CTSD):c.828-17G>A
|
rs78735768
|
0.05315
|
NM_000520.6(HEXA):c.570+57G>A
|
rs12440768
|
0.04919
|
NM_002087.4(GRN):c.835+7G>A
|
rs72824736
|
0.04753
|
NM_000520.6(HEXA):c.1331-46G>A
|
rs2303448
|
0.04341
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
NM_022089.4(ATP13A2):c.*124C>T
|
rs15786
|
0.04122
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
NM_000521.4(HEXB):c.-175G>A
|
rs73117116
|
0.03911
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)
|
rs36038805
|
0.03060
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)
|
rs820878
|
0.02757
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_025219.3(DNAJC5):c.*4007G>C
|
rs77777268
|
0.02556
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_025219.3(DNAJC5):c.*4385A>T
|
rs77335831
|
0.01815
|
NM_025219.3(DNAJC5):c.*4300C>T
|
rs41278224
|
0.01781
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001909.5(CTSD):c.*300G>A
|
rs113940256
|
0.01455
|
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr)
|
rs79274952
|
0.01384
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)
|
rs113987077
|
0.01342
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_025219.3(DNAJC5):c.*3670A>G
|
rs77107548
|
0.01329
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_025219.3(DNAJC5):c.*4117C>T
|
rs11554630
|
0.01268
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
NM_000391.4(TPP1):c.*71G>A
|
rs140680586
|
0.01221
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_022089.4(ATP13A2):c.2763-16G>A
|
rs114407349
|
0.01044
|
NM_025219.3(DNAJC5):c.*895C>G
|
rs1064345
|
0.01026
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)
|
rs112812685
|
0.00817
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
NM_003793.4(CTSF):c.1322-19G>A
|
rs73505406
|
0.00770
|
NM_003793.4(CTSF):c.1368C>T (p.Asp456=)
|
rs148155987
|
0.00759
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_003793.4(CTSF):c.939G>A (p.Gly313=)
|
rs114727660
|
0.00758
|
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp)
|
rs28464796
|
0.00735
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_002087.3(GRN):c.-72G>T
|
rs76783532
|
0.00635
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_017882.3(CLN6):c.*667G>A
|
rs111879561
|
0.00596
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_000521.4(HEXB):c.276C>T (p.Thr92=)
|
rs140509633
|
0.00569
|
NM_001909.5(CTSD):c.846G>A (p.Gly282=)
|
rs112021026
|
0.00567
|
NM_025219.3(DNAJC5):c.*2878T>C
|
rs749724
|
0.00565
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)
|
rs2734715
|
0.00549
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_002087.4(GRN):c.42G>A (p.Leu14=)
|
rs111435385
|
0.00533
|
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)
|
rs63750412
|
0.00523
|
NM_022089.4(ATP13A2):c.*140C>G
|
rs557545457
|
0.00509
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001909.5(CTSD):c.828-19A>C
|
rs200047861
|
0.00494
|
NM_001909.5(CTSD):c.*19G>A
|
rs201434721
|
0.00493
|
NM_025219.3(DNAJC5):c.*817C>T
|
rs114525694
|
0.00491
|
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala)
|
rs61734958
|
0.00485
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
NM_025219.3(DNAJC5):c.*1364C>T
|
rs61735744
|
0.00449
|
NM_003793.4(CTSF):c.1158C>T (p.Asn386=)
|
rs116329758
|
0.00447
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_022089.4(ATP13A2):c.*120A>T
|
rs41273151
|
0.00422
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_022089.4(ATP13A2):c.*231G>A
|
rs76298930
|
0.00409
|
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys)
|
rs114768494
|
0.00403
|
NM_001042432.2(CLN3):c.771G>A (p.Glu257=)
|
rs73533466
|
0.00402
|
NM_025219.3(DNAJC5):c.*909G>T
|
rs114038171
|
0.00395
|
NM_002087.4(GRN):c.545C>T (p.Thr182Met)
|
rs63750479
|
0.00356
|
NM_025219.3(DNAJC5):c.*1235C>T
|
rs149675982
|
0.00347
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_002087.4(GRN):c.546G>A (p.Thr182=)
|
rs138473783
|
0.00335
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
NM_025219.3(DNAJC5):c.*1342G>A
|
rs41278218
|
0.00334
|
NM_002087.4(GRN):c.1227G>A (p.Thr409=)
|
rs140298583
|
0.00326
|
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys)
|
rs34758634
|
0.00324
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=)
|
rs140948457
|
0.00314
|
NM_000391.4(TPP1):c.381-23G>T
|
rs181191327
|
0.00312
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg)
|
rs11550508
|
0.00311
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_003793.4(CTSF):c.1231-13T>C
|
rs199830949
|
0.00298
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_025219.3(DNAJC5):c.*3204C>T
|
rs140377993
|
0.00248
|
NM_025219.3(DNAJC5):c.*1820C>A
|
rs182604967
|
0.00237
|
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)
|
rs115985012
|
0.00228
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)
|
rs573483617
|
0.00221
|
NM_001909.5(CTSD):c.951C>T (p.Ala317=)
|
rs78306946
|
0.00211
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_025219.3(DNAJC5):c.*1183G>T
|
rs562364964
|
0.00208
|
NM_017882.3(CLN6):c.840G>A (p.Leu280=)
|
rs148949069
|
0.00198
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)
|
rs140048110
|
0.00195
|
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys)
|
rs150922871
|
0.00177
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_000520.6(HEXA):c.1146+8G>A
|
rs201453018
|
0.00167
|
NM_000520.6(HEXA):c.254-33G>A
|
rs186468379
|
0.00164
|
NM_006493.4(CLN5):c.705G>A (p.Val235=)
|
rs116531784
|
0.00163
|
NM_022089.4(ATP13A2):c.3406-14C>T
|
rs139088170
|
0.00163
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_025219.3(DNAJC5):c.*750G>T
|
rs140106848
|
0.00140
|
NM_025219.3(DNAJC5):c.*195G>A
|
rs180676568
|
0.00135
|
NM_025219.3(DNAJC5):c.456C>T (p.Pro152=)
|
rs140326040
|
0.00130
|
NM_022089.4(ATP13A2):c.706-14C>T
|
rs371532404
|
0.00128
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_025219.3(DNAJC5):c.*1433G>A
|
rs41278220
|
0.00125
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_025219.3(DNAJC5):c.*1556A>G
|
rs58526294
|
0.00108
|
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
NM_025219.3(DNAJC5):c.*3269C>G
|
rs528394634
|
0.00107
|
NM_025219.3(DNAJC5):c.*2218A>G
|
rs142121195
|
0.00106
|
NM_017882.3(CLN6):c.270C>T (p.Asn90=)
|
rs145247814
|
0.00104
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_025219.3(DNAJC5):c.*2790C>T
|
rs55665472
|
0.00101
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=)
|
rs151064520
|
0.00093
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00091
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_002087.4(GRN):c.228C>T (p.Thr76=)
|
rs144736470
|
0.00086
|
NM_025219.3(DNAJC5):c.*4006C>T
|
rs138866062
|
0.00079
|
NM_025219.3(DNAJC5):c.*4065G>A
|
rs373099874
|
0.00076
|
NM_025219.3(DNAJC5):c.107+12A>G
|
rs372843187
|
0.00074
|
NM_025219.3(DNAJC5):c.*2039C>T
|
rs79245733
|
0.00073
|
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
NM_025219.3(DNAJC5):c.*3413A>G
|
rs150408300
|
0.00071
|
NM_002087.4(GRN):c.708+8A>T
|
rs370878457
|
0.00066
|
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)
|
rs144141585
|
0.00066
|
NM_022089.4(ATP13A2):c.106-14C>T
|
rs199706883
|
0.00054
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_025219.3(DNAJC5):c.*1630C>T
|
rs527390994
|
0.00050
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_003793.4(CTSF):c.1407C>T (p.Ser469=)
|
rs144556402
|
0.00039
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
NM_025219.3(DNAJC5):c.*4129G>C
|
rs191412647
|
0.00034
|
NM_025219.3(DNAJC5):c.*4131C>T
|
rs146360147
|
0.00032
|
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)
|
rs148970081
|
0.00031
|
NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=)
|
rs201495666
|
0.00031
|
NM_000391.4(TPP1):c.*241T>C
|
rs74843914
|
0.00029
|
NM_001042432.2(CLN3):c.790+16C>A
|
rs200731769
|
0.00023
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_017882.3(CLN6):c.84-18C>T
|
rs201554701
|
0.00022
|
NM_003793.4(CTSF):c.45G>T (p.Pro15=)
|
rs117792851
|
0.00020
|
NM_017882.3(CLN6):c.487-8T>C
|
rs202046680
|
0.00019
|
NM_018941.4(CLN8):c.318C>T (p.His106=)
|
rs184988046
|
0.00018
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_025219.3(DNAJC5):c.*3432G>A
|
rs1051821
|
0.00016
|
NM_022089.4(ATP13A2):c.106-5C>T
|
rs117838709
|
0.00014
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=)
|
rs368279466
|
0.00011
|
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=)
|
rs536306337
|
0.00011
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
|
rs189308547
|
0.00010
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_022089.4(ATP13A2):c.635+15G>A
|
rs563778719
|
0.00009
|
NM_025219.3(DNAJC5):c.*728G>A
|
rs150670642
|
0.00008
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
0.00006
|
NM_022089.4(ATP13A2):c.2529+9G>A
|
rs200809857
|
0.00006
|
NM_025219.3(DNAJC5):c.*1079T>C
|
rs370539010
|
0.00006
|
NM_025219.3(DNAJC5):c.*2563A>C
|
rs188604040
|
0.00006
|
NM_025219.3(DNAJC5):c.*1643T>C
|
rs142546412
|
0.00005
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
NM_025219.3(DNAJC5):c.108-3C>T
|
rs541118679
|
0.00004
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_017882.3(CLN6):c.*725C>T
|
rs369225795
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_001909.5(CTSD):c.1116C>T (p.Gly372=)
|
rs557342549
|
0.00001
|
NM_002087.4(GRN):c.267C>T (p.Ala89=)
|
rs201699327
|
0.00001
|
NM_025219.3(DNAJC5):c.*1604C>T
|
rs554749952
|
0.00001
|
NM_025219.3(DNAJC5):c.*1936T>C
|
rs574966040
|
0.00001
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-7_887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-8_887-6del
|
rs35039601
|
|
NM_000520.6(HEXA):c.1421+13dup
|
rs780193130
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+19del
|
|
|
NM_000521.4(HEXB):c.*82_*83del
|
rs56312827
|
|
NM_000521.4(HEXB):c.1170-11del
|
|
|
NM_000521.4(HEXB):c.1170-11dup
|
|
|
NM_000521.4(HEXB):c.446-16dup
|
|
|
NM_000521.4(HEXB):c.512-112T>G
|
rs1696979
|
|
NM_000784.3(CYP27A1):c.-357dup
|
rs397795841
|
|
NM_000784.4(CYP27A1):c.1017+14del
|
rs372792485
|
|
NM_000784.4(CYP27A1):c.1263+10del
|
rs765426068
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1477-3del
|
rs2105981409
|
|
NM_000784.4(CYP27A1):c.1477-3dup
|
|
|
NM_000784.4(CYP27A1):c.366= (p.Gly122=)
|
rs1051087
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=)
|
rs587778814
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.270T>C (p.Phe90=)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.375-5del
|
|
|
NM_001042432.2(CLN3):c.375-5dup
|
|
|
NM_001042432.2(CLN3):c.461-3del
|
rs766754807
|
|
NM_001042432.2(CLN3):c.461-3dup
|
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001909.5(CTSD):c.69-17del
|
|
|
NM_001909.5(CTSD):c.827+111del
|
rs55725229
|
|
NM_002087.4(GRN):c.1180-3del
|
|
|
NM_002087.4(GRN):c.414G>C (p.Thr138=)
|
rs543344476
|
|
NM_002087.4(GRN):c.463-6dup
|
rs780699082
|
|
NM_002087.4(GRN):c.933+11del
|
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_006493.4(CLN5):c.566-8dup
|
rs760343764
|
|
NM_017882.3(CLN6):c.297+19del
|
rs61224699
|
|
NM_017882.3(CLN6):c.298-3del
|
rs1567095944
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_017882.3(CLN6):c.83+14dup
|
rs756808642
|
|
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys)
|
rs113304303
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_022089.4(ATP13A2):c.1845+15del
|
|
|
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)
|
rs369722835
|
|
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=)
|
rs544545629
|
|
NM_022089.4(ATP13A2):c.2251+20C>T
|
|
|
NM_025219.3(DNAJC5):c.*2723A>G
|
rs76769576
|
|
NM_025219.3(DNAJC5):c.*4070C>G
|
rs3810500
|
|
NM_025219.3(DNAJC5):c.*727C>A
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*727C>G
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*853C>G
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.322-3dup
|
rs1173184036
|
|