NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)
|
rs820878
|
0.97243
|
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_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_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_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
NM_002087.4(GRN):c.*78C>T
|
rs5848
|
0.41298
|
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_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
NM_003793.4(CTSF):c.126C>T (p.Pro42=)
|
rs1044522
|
0.22868
|
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.-8+46G>T
|
rs564341543
|
0.19681
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
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_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
NM_025219.3(DNAJC5):c.321+20C>T
|
rs2295436
|
0.07912
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_025219.3(DNAJC5):c.322-10C>T
|
rs78457562
|
0.07717
|
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_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_006493.4(CLN5):c.173+18C>T
|
rs112141862
|
0.05807
|
NM_001909.5(CTSD):c.828-17G>A
|
rs78735768
|
0.05315
|
NM_002087.4(GRN):c.835+7G>A
|
rs72824736
|
0.04753
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
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_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
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_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_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
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_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_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
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_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_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_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
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.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_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_003793.4(CTSF):c.1158C>T (p.Asn386=)
|
rs116329758
|
0.00447
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
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_002087.4(GRN):c.545C>T (p.Thr182Met)
|
rs63750479
|
0.00356
|
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_002087.4(GRN):c.1227G>A (p.Thr409=)
|
rs140298583
|
0.00326
|
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_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_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln)
|
rs114248177
|
0.00247
|
NM_018941.4(CLN8):c.290G>A (p.Arg97His)
|
rs116605307
|
0.00236
|
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_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)
|
rs140842830
|
0.00215
|
NM_001909.5(CTSD):c.951C>T (p.Ala317=)
|
rs78306946
|
0.00211
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
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_000520.6(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970
|
0.00190
|
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg)
|
rs113678356
|
0.00177
|
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys)
|
rs150922871
|
0.00177
|
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)
|
rs147181589
|
0.00175
|
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_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.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_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
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_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln)
|
rs137955309
|
0.00108
|
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
|
rs148611356
|
0.00105
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
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.107+10C>T
|
rs181906972
|
0.00101
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=)
|
rs151064520
|
0.00093
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00091
|
NM_022089.4(ATP13A2):c.841-4A>G
|
rs112549590
|
0.00090
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_002087.4(GRN):c.228C>T (p.Thr76=)
|
rs144736470
|
0.00086
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn)
|
rs143030899
|
0.00082
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)
|
rs145722193
|
0.00080
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)
|
rs150348015
|
0.00074
|
NM_025219.3(DNAJC5):c.107+12A>G
|
rs372843187
|
0.00074
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met)
|
rs148201608
|
0.00070
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_002087.4(GRN):c.708+8A>T
|
rs370878457
|
0.00066
|
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)
|
rs144141585
|
0.00066
|
NM_018941.4(CLN8):c.546G>A (p.Ala182=)
|
rs144047076
|
0.00064
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_002087.4(GRN):c.253C>G (p.Pro85Ala)
|
rs143560849
|
0.00058
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_022089.4(ATP13A2):c.106-14C>T
|
rs199706883
|
0.00054
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_002087.4(GRN):c.1515C>T (p.Ala505=)
|
rs147495221
|
0.00052
|
NM_002087.4(GRN):c.393C>G (p.Phe131Leu)
|
rs149180605
|
0.00052
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_001042432.2(CLN3):c.963-16C>G
|
rs200023908
|
0.00051
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=)
|
rs113207069
|
0.00051
|
NM_003793.4(CTSF):c.213+7A>T
|
rs761072570
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)
|
rs144708504
|
0.00050
|
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln)
|
rs145548316
|
0.00050
|
NM_017882.3(CLN6):c.487-15C>T
|
rs200775021
|
0.00049
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_002087.4(GRN):c.513C>T (p.Cys171=)
|
rs147974849
|
0.00044
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00044
|
NM_022089.4(ATP13A2):c.3235+20C>T
|
rs376475762
|
0.00044
|
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
|
rs145515028
|
0.00044
|
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=)
|
rs61999317
|
0.00043
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_002087.4(GRN):c.981G>A (p.Thr327=)
|
rs145655086
|
0.00041
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00041
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001909.5(CTSD):c.75G>A (p.Pro25=)
|
rs140563067
|
0.00040
|
NM_001909.5(CTSD):c.353-11G>A
|
rs372689713
|
0.00039
|
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.958C>T (p.Leu320Phe)
|
rs367855115
|
0.00038
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)
|
rs143834546
|
0.00037
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_002087.4(GRN):c.1180-3C>T
|
rs368307425
|
0.00036
|
NM_017882.3(CLN6):c.42C>A (p.Gly14=)
|
rs373776911
|
0.00036
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_022089.4(ATP13A2):c.1039+6C>T
|
rs565724504
|
0.00035
|
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)
|
rs148026506
|
0.00035
|
NM_000521.4(HEXB):c.1437A>C (p.Gln479His)
|
rs139129900
|
0.00034
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)
|
rs138110438
|
0.00034
|
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)
|
rs200916673
|
0.00034
|
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu)
|
rs200924194
|
0.00034
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_001042432.2(CLN3):c.678-18C>A
|
rs370158185
|
0.00031
|
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu)
|
rs137858807
|
0.00031
|
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)
|
rs148970081
|
0.00031
|
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=)
|
rs137877665
|
0.00031
|
NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=)
|
rs201495666
|
0.00031
|
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)
|
rs199994961
|
0.00030
|
NM_000520.6(HEXA):c.1338T>C (p.Pro446=)
|
rs34085965
|
0.00029
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_001909.5(CTSD):c.1071+7G>A
|
rs374010531
|
0.00029
|
NM_002087.4(GRN):c.635G>A (p.Arg212Gln)
|
rs63750787
|
0.00029
|
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln)
|
rs138546275
|
0.00029
|
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser)
|
rs140795906
|
0.00028
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)
|
rs143517230
|
0.00026
|
NM_003793.4(CTSF):c.214-6C>T
|
rs376579629
|
0.00026
|
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)
|
rs41287036
|
0.00026
|
NM_022089.4(ATP13A2):c.2610-9T>C
|
rs376189607
|
0.00026
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
NM_003793.4(CTSF):c.1046-2A>C
|
rs141915593
|
0.00025
|
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser)
|
rs752487771
|
0.00025
|
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)
|
rs113643181
|
0.00025
|
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)
|
rs151117761
|
0.00024
|
NM_002087.4(GRN):c.276C>T (p.Cys92=)
|
rs146792371
|
0.00024
|
NM_018941.4(CLN8):c.112G>A (p.Val38Ile)
|
rs370199508
|
0.00024
|
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)
|
rs377253172
|
0.00024
|
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)
|
rs377703085
|
0.00024
|
NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser)
|
rs370603922
|
0.00023
|
NM_001042432.2(CLN3):c.790+16C>A
|
rs200731769
|
0.00023
|
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)
|
rs201883464
|
0.00023
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_001909.5(CTSD):c.828-18C>T
|
rs377228580
|
0.00022
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr)
|
rs146198681
|
0.00022
|
NM_017882.3(CLN6):c.84-18C>T
|
rs201554701
|
0.00022
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
NM_001909.5(CTSD):c.228+18G>T
|
rs376354665
|
0.00021
|
NM_002087.4(GRN):c.360C>T (p.Ser120=)
|
rs375183423
|
0.00021
|
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)
|
rs11842935
|
0.00021
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
NM_022089.4(ATP13A2):c.2043A>G (p.Thr681=)
|
rs143828547
|
0.00021
|
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=)
|
rs61741838
|
0.00021
|
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)
|
rs372194079
|
0.00020
|
NM_001909.5(CTSD):c.68+10C>T
|
rs760082760
|
0.00020
|
NM_003793.4(CTSF):c.45G>T (p.Pro15=)
|
rs117792851
|
0.00020
|
NM_017882.3(CLN6):c.741C>T (p.His247=)
|
rs140653271
|
0.00020
|
NM_018941.4(CLN8):c.619C>G (p.Leu207Val)
|
rs151334741
|
0.00020
|
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=)
|
rs138437271
|
0.00020
|
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
|
rs138058578
|
0.00019
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)
|
rs147641822
|
0.00019
|
NM_001909.5(CTSD):c.294G>A (p.Thr98=)
|
rs369373285
|
0.00019
|
NM_002087.4(GRN):c.705C>A (p.Pro235=)
|
rs148507354
|
0.00019
|
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)
|
rs544669445
|
0.00019
|
NM_017882.3(CLN6):c.487-8T>C
|
rs202046680
|
0.00019
|
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)
|
rs148668081
|
0.00019
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
NM_002087.4(GRN):c.287A>G (p.His96Arg)
|
rs139272628
|
0.00018
|
NM_002087.4(GRN):c.349+12G>T
|
rs367640963
|
0.00018
|
NM_018941.4(CLN8):c.318C>T (p.His106=)
|
rs184988046
|
0.00018
|
NM_022089.4(ATP13A2):c.1543-9C>T
|
rs563459900
|
0.00018
|
NM_000520.6(HEXA):c.517C>T (p.Leu173=)
|
rs200743199
|
0.00017
|
NM_000521.4(HEXB):c.299+7G>C
|
rs371930917
|
0.00017
|
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)
|
rs144770450
|
0.00017
|
NM_022089.4(ATP13A2):c.1353+8T>C
|
rs369680614
|
0.00017
|
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)
|
rs761736583
|
0.00016
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
|
rs576145664
|
0.00016
|
NM_000784.4(CYP27A1):c.1017+5G>A
|
rs370304209
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His)
|
rs370868184
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_001042432.2(CLN3):c.537C>T (p.Ala179=)
|
rs147667964
|
0.00016
|
NM_003793.4(CTSF):c.1203C>T (p.Ser401=)
|
rs139027846
|
0.00016
|
NM_006493.4(CLN5):c.565+3_565+4dup
|
rs745312608
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=)
|
rs777472886
|
0.00016
|
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_000520.6(HEXA):c.1443C>T (p.Ala481=)
|
rs140091006
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys)
|
rs778371330
|
0.00015
|
NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys)
|
rs201407601
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala)
|
rs541501705
|
0.00015
|
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp)
|
rs142616130
|
0.00015
|
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=)
|
rs112261486
|
0.00015
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
NM_001042432.2(CLN3):c.174C>T (p.Ala58=)
|
rs138433617
|
0.00014
|
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg)
|
rs138191189
|
0.00014
|
NM_002087.4(GRN):c.1539C>T (p.His513=)
|
rs772977073
|
0.00014
|
NM_002087.4(GRN):c.279G>A (p.Gly93=)
|
rs63751088
|
0.00014
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00014
|
NM_022089.4(ATP13A2):c.106-5C>T
|
rs117838709
|
0.00014
|
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=)
|
rs750600448
|
0.00014
|
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)
|
rs201610681
|
0.00014
|
NM_000521.4(HEXB):c.558+16A>G
|
rs191028207
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001909.5(CTSD):c.1077G>A (p.Ser359=)
|
rs138940129
|
0.00013
|
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
|
rs202073338
|
0.00013
|
NM_001909.5(CTSD):c.1230C>T (p.Ala410=)
|
rs772742148
|
0.00013
|
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)
|
rs555516403
|
0.00013
|
NM_001909.5(CTSD):c.957G>A (p.Pro319=)
|
rs369229897
|
0.00013
|
NM_017882.3(CLN6):c.477G>A (p.Pro159=)
|
rs370811678
|
0.00013
|
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)
|
rs373957283
|
0.00013
|
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=)
|
rs55943100
|
0.00013
|
NM_022089.4(ATP13A2):c.1196-14C>T
|
rs200896109
|
0.00013
|
NM_022089.4(ATP13A2):c.1975C>T (p.Leu659=)
|
rs755284799
|
0.00013
|
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val)
|
rs375552345
|
0.00013
|
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser)
|
rs202166353
|
0.00013
|
NM_022089.4(ATP13A2):c.3235+13G>A
|
rs369278996
|
0.00013
|
NM_025219.3(DNAJC5):c.324C>G (p.Ala108=)
|
rs141103374
|
0.00013
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000521.4(HEXB):c.1536A>G (p.Arg512=)
|
rs139971120
|
0.00012
|
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg)
|
rs531151091
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)
|
rs147553344
|
0.00012
|
NM_001909.5(CTSD):c.90G>A (p.Thr30=)
|
rs368529527
|
0.00012
|
NM_003793.4(CTSF):c.780G>A (p.Lys260=)
|
rs140002533
|
0.00012
|
NM_018941.4(CLN8):c.333G>A (p.Thr111=)
|
rs377273687
|
0.00012
|
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile)
|
rs113105667
|
0.00012
|
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)
|
rs369863178
|
0.00012
|
NM_022089.4(ATP13A2):c.192C>T (p.Leu64=)
|
rs576096315
|
0.00012
|
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser)
|
rs758675397
|
0.00012
|
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu)
|
rs752619582
|
0.00012
|
NM_025219.3(DNAJC5):c.531C>T (p.Ser177=)
|
rs376694698
|
0.00012
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)
|
rs148199798
|
0.00011
|
NM_000521.4(HEXB):c.978G>C (p.Leu326=)
|
rs138261300
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp)
|
rs369294392
|
0.00011
|
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His)
|
rs201271341
|
0.00011
|
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys)
|
rs386833726
|
0.00011
|
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)
|
rs779278368
|
0.00011
|
NM_001909.5(CTSD):c.1122C>T (p.Asp374=)
|
rs145821780
|
0.00011
|
NM_001909.5(CTSD):c.592A>G (p.Ile198Val)
|
rs556334193
|
0.00011
|
NM_002087.4(GRN):c.507C>G (p.Ala169=)
|
rs113426443
|
0.00011
|
NM_003793.4(CTSF):c.597G>A (p.Glu199=)
|
rs200932066
|
0.00011
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)
|
rs994590268
|
0.00011
|
NM_017882.3(CLN6):c.585C>T (p.Gly195=)
|
rs144507672
|
0.00011
|
NM_018941.4(CLN8):c.599T>C (p.Met200Thr)
|
rs368646951
|
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_022089.4(ATP13A2):c.1767G>A (p.Pro589=)
|
rs752208167
|
0.00011
|
NM_022089.4(ATP13A2):c.252C>T (p.His84=)
|
rs554944790
|
0.00011
|
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys)
|
rs148534162
|
0.00011
|
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=)
|
rs371975975
|
0.00011
|
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)
|
rs370421723
|
0.00011
|
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val)
|
rs139312819
|
0.00011
|
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=)
|
rs549032526
|
0.00010
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val)
|
rs148514847
|
0.00010
|
NM_001042432.2(CLN3):c.361C>G (p.Leu121Val)
|
rs752282954
|
0.00010
|
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro)
|
rs141816714
|
0.00010
|
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)
|
rs764386803
|
0.00010
|
NM_001909.5(CTSD):c.471+16G>A
|
rs567387961
|
0.00010
|
NM_001909.5(CTSD):c.614G>A (p.Arg205His)
|
rs371522391
|
0.00010
|
NM_002087.4(GRN):c.1555G>A (p.Val519Met)
|
rs141111290
|
0.00010
|
NM_002087.4(GRN):c.415T>C (p.Cys139Arg)
|
rs763841075
|
0.00010
|
NM_002087.4(GRN):c.836-8C>T
|
rs376226985
|
0.00010
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn)
|
rs147623032
|
0.00010
|
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)
|
rs142104002
|
0.00010
|
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)
|
rs749651452
|
0.00010
|
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
|
rs138821993
|
0.00010
|
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln)
|
rs773087322
|
0.00010
|
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=)
|
rs145455452
|
0.00010
|
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg)
|
rs148094721
|
0.00010
|
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys)
|
rs538497077
|
0.00010
|
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
|
rs189308547
|
0.00010
|
NM_000520.6(HEXA):c.1330+16T>G
|
rs371435283
|
0.00009
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000520.6(HEXA):c.38C>T (p.Ala13Val)
|
rs145666272
|
0.00009
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=)
|
rs1426398337
|
0.00009
|
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met)
|
rs150913606
|
0.00009
|
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser)
|
rs769104531
|
0.00009
|
NM_001042432.2(CLN3):c.759C>A (p.Leu253=)
|
rs772274552
|
0.00009
|
NM_002087.4(GRN):c.1449G>A (p.Pro483=)
|
rs150294858
|
0.00009
|
NM_002087.4(GRN):c.1647C>T (p.Gly549=)
|
rs745391227
|
0.00009
|
NM_002087.4(GRN):c.329G>A (p.Arg110Gln)
|
rs375439809
|
0.00009
|
NM_002087.4(GRN):c.429C>T (p.Val143=)
|
rs369649646
|
0.00009
|
NM_002087.4(GRN):c.497C>T (p.Pro166Leu)
|
rs368705304
|
0.00009
|
NM_002087.4(GRN):c.53C>T (p.Thr18Met)
|
rs199572314
|
0.00009
|
NM_003793.4(CTSF):c.810C>T (p.Leu270=)
|
rs147398226
|
0.00009
|
NM_003793.4(CTSF):c.868-17C>G
|
rs554536950
|
0.00009
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_006493.4(CLN5):c.-83G>T
|
rs576642281
|
0.00009
|
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr)
|
rs745767054
|
0.00009
|
NM_006493.4(CLN5):c.417C>T (p.Phe139=)
|
rs371229525
|
0.00009
|
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)
|
rs199609750
|
0.00009
|
NM_017882.3(CLN6):c.298-15C>T
|
rs368661456
|
0.00009
|
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)
|
rs138581191
|
0.00009
|
NM_022089.4(ATP13A2):c.255C>T (p.Ala85=)
|
rs369906056
|
0.00009
|
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His)
|
rs564643512
|
0.00009
|
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)
|
rs372995036
|
0.00009
|
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)
|
rs151117874
|
0.00009
|
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=)
|
rs140631323
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=)
|
rs147384248
|
0.00009
|
NM_022089.4(ATP13A2):c.635+15G>A
|
rs563778719
|
0.00009
|
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp)
|
rs144898239
|
0.00009
|
NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=)
|
rs149971662
|
0.00009
|
NM_025219.3(DNAJC5):c.494-20C>T
|
rs377764458
|
0.00009
|
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
|
rs768518776
|
0.00008
|
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly)
|
rs749347602
|
0.00008
|
NM_000521.4(HEXB):c.216C>T (p.Leu72=)
|
rs780221860
|
0.00008
|
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)
|
rs143002163
|
0.00008
|
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met)
|
rs776992864
|
0.00008
|
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)
|
rs377369610
|
0.00008
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001909.5(CTSD):c.1137C>T (p.Ser379=)
|
rs141981301
|
0.00008
|
NM_001909.5(CTSD):c.471+15G>C
|
rs201413619
|
0.00008
|
NM_001909.5(CTSD):c.630C>T (p.Asn210=)
|
rs375282504
|
0.00008
|
NM_002087.4(GRN):c.1341C>T (p.His447=)
|
rs63750775
|
0.00008
|
NM_002087.4(GRN):c.229G>A (p.Val77Ile)
|
rs148531161
|
0.00008
|
NM_002087.4(GRN):c.615G>A (p.Ser205=)
|
rs372963871
|
0.00008
|
NM_002087.4(GRN):c.626C>T (p.Pro209Leu)
|
rs368995988
|
0.00008
|
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)
|
rs773979248
|
0.00008
|
NM_006493.4(CLN5):c.-47C>G
|
rs937545860
|
0.00008
|
NM_006493.4(CLN5):c.120C>T (p.Gly40=)
|
rs370320230
|
0.00008
|
NM_017882.3(CLN6):c.798C>T (p.Phe266=)
|
rs140319056
|
0.00008
|
NM_018941.4(CLN8):c.15C>T (p.Ser5=)
|
rs374597781
|
0.00008
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00008
|
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)
|
rs766292710
|
0.00008
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=)
|
rs369352100
|
0.00008
|
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)
|
rs147277743
|
0.00008
|
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val)
|
rs755307953
|
0.00008
|
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
|
rs377310315
|
0.00007
|
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met)
|
rs552505619
|
0.00007
|
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)
|
rs760153692
|
0.00007
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)
|
rs563736306
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr)
|
rs368735609
|
0.00007
|
NM_001042432.2(CLN3):c.250C>A (p.His84Asn)
|
rs201329358
|
0.00007
|
NM_001042432.2(CLN3):c.291G>A (p.Thr97=)
|
rs367945307
|
0.00007
|
NM_001909.5(CTSD):c.261G>A (p.Thr87=)
|
rs372181453
|
0.00007
|
NM_002087.4(GRN):c.1742A>T (p.Asp581Val)
|
rs768223928
|
0.00007
|
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)
|
rs369100769
|
0.00007
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
NM_018941.4(CLN8):c.856C>T (p.Pro286Ser)
|
rs759475160
|
0.00007
|
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln)
|
rs376011760
|
0.00007
|
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)
|
rs367745335
|
0.00007
|
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu)
|
rs56170027
|
0.00007
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)
|
rs377431904
|
0.00007
|
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=)
|
rs756650754
|
0.00007
|
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met)
|
rs528943677
|
0.00007
|
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)
|
rs544885605
|
0.00007
|
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys)
|
rs771312962
|
0.00007
|
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=)
|
rs371992028
|
0.00007
|
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr)
|
rs377119075
|
0.00007
|
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp)
|
rs762494949
|
0.00006
|
NM_000520.6(HEXA):c.286G>A (p.Val96Ile)
|
rs868358306
|
0.00006
|
NM_000520.6(HEXA):c.764C>G (p.Ala255Gly)
|
rs370576428
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00006
|
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val)
|
rs200753815
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met)
|
rs149366157
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met)
|
rs201500822
|
0.00006
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile)
|
rs759049027
|
0.00006
|
NM_001042432.2(CLN3):c.1197+13C>T
|
rs370103287
|
0.00006
|
NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val)
|
rs369801432
|
0.00006
|
NM_001042432.2(CLN3):c.126-8C>T
|
rs770136863
|
0.00006
|
NM_001042432.2(CLN3):c.222T>C (p.His74=)
|
rs201225986
|
0.00006
|
NM_001042432.2(CLN3):c.223-5A>G
|
rs1210022838
|
0.00006
|
NM_001042432.2(CLN3):c.244A>T (p.Ile82Phe)
|
rs370020452
|
0.00006
|
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)
|
rs376421578
|
0.00006
|
NM_001042432.2(CLN3):c.677+18G>A
|
rs200503055
|
0.00006
|
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg)
|
rs746733183
|
0.00006
|
NM_001909.5(CTSD):c.111G>A (p.Ser37=)
|
rs535140505
|
0.00006
|
NM_001909.5(CTSD):c.153C>T (p.Pro51=)
|
rs560041488
|
0.00006
|
NM_001909.5(CTSD):c.174G>A (p.Ala58=)
|
rs565191387
|
0.00006
|
NM_001909.5(CTSD):c.184G>A (p.Val62Met)
|
rs756892066
|
0.00006
|
NM_001909.5(CTSD):c.267C>G (p.Pro89=)
|
rs139154882
|
0.00006
|
NM_001909.5(CTSD):c.411G>A (p.Ser137=)
|
rs372999684
|
0.00006
|
NM_001909.5(CTSD):c.627C>T (p.Asn209=)
|
rs772453588
|
0.00006
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
0.00006
|
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr)
|
rs553119528
|
0.00006
|
NM_002087.4(GRN):c.1641C>T (p.Arg547=)
|
rs149658268
|
0.00006
|
NM_002087.4(GRN):c.268G>A (p.Val90Met)
|
rs200019356
|
0.00006
|
NM_002087.4(GRN):c.361G>A (p.Val121Met)
|
rs780731069
|
0.00006
|
NM_002087.4(GRN):c.442G>A (p.Gly148Arg)
|
rs375343686
|
0.00006
|
NM_002087.4(GRN):c.56G>A (p.Arg19Gln)
|
rs764665710
|
0.00006
|
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys)
|
rs752345618
|
0.00006
|
NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser)
|
rs201500574
|
0.00006
|
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg)
|
rs200426008
|
0.00006
|
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)
|
rs762333226
|
0.00006
|
NM_006493.4(CLN5):c.152G>A (p.Arg51His)
|
rs367952803
|
0.00006
|
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)
|
rs368428437
|
0.00006
|
NM_017882.3(CLN6):c.11C>T (p.Thr4Met)
|
rs1017662486
|
0.00006
|
NM_017882.3(CLN6):c.199-5C>T
|
rs371705916
|
0.00006
|
NM_017882.3(CLN6):c.213C>T (p.Leu71=)
|
rs146980624
|
0.00006
|
NM_017882.3(CLN6):c.271G>A (p.Val91Ile)
|
rs140519790
|
0.00006
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys)
|
rs202226970
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
|
rs368546281
|
0.00006
|
NM_017882.3(CLN6):c.637C>T (p.Leu213=)
|
rs750548623
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr)
|
rs374613712
|
0.00006
|
NM_018941.4(CLN8):c.287C>T (p.Ala96Val)
|
rs775400768
|
0.00006
|
NM_018941.4(CLN8):c.510G>A (p.Thr170=)
|
rs759153401
|
0.00006
|
NM_018941.4(CLN8):c.708C>T (p.Val236=)
|
rs200760828
|
0.00006
|
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met)
|
rs555691965
|
0.00006
|
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)
|
rs768796427
|
0.00006
|
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu)
|
rs376070950
|
0.00006
|
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)
|
rs147260398
|
0.00006
|
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu)
|
rs373607247
|
0.00006
|
NM_022089.4(ATP13A2):c.2252-8A>T
|
rs759020707
|
0.00006
|
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=)
|
rs886045580
|
0.00006
|
NM_022089.4(ATP13A2):c.2529+9G>A
|
rs200809857
|
0.00006
|
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val)
|
rs190323680
|
0.00006
|
NM_022089.4(ATP13A2):c.2994C>T (p.Ser998=)
|
rs369590596
|
0.00006
|
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val)
|
rs370677966
|
0.00006
|
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val)
|
rs376169767
|
0.00006
|
NM_022089.4(ATP13A2):c.699G>T (p.Val233=)
|
rs374074690
|
0.00006
|
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)
|
rs199661793
|
0.00006
|
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr)
|
rs761338717
|
0.00006
|
NM_022089.4(ATP13A2):c.823C>T (p.Leu275=)
|
rs767056514
|
0.00006
|
NM_025219.3(DNAJC5):c.243G>A (p.Ser81=)
|
rs532410241
|
0.00006
|
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val)
|
rs144915847
|
0.00006
|
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu)
|
rs761982169
|
0.00006
|
NM_025219.3(DNAJC5):c.528A>G (p.Ala176=)
|
rs773154613
|
0.00006
|
NM_000520.6(HEXA):c.1146+9G>C
|
rs371023342
|
0.00005
|
NM_000520.6(HEXA):c.1421+4A>G
|
rs953579005
|
0.00005
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu)
|
rs371133961
|
0.00005
|
NM_000520.6(HEXA):c.888T>C (p.Asn296=)
|
rs752260651
|
0.00005
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000521.4(HEXB):c.1251G>A (p.Pro417=)
|
rs144264311
|
0.00005
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
|
rs373428306
|
0.00005
|
NM_000784.4(CYP27A1):c.1185-3C>A
|
rs373628198
|
0.00005
|
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp)
|
rs570721628
|
0.00005
|
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=)
|
rs150091721
|
0.00005
|
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val)
|
rs372772968
|
0.00005
|
NM_000784.4(CYP27A1):c.447-11C>T
|
rs746577389
|
0.00005
|
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys)
|
rs774541162
|
0.00005
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn)
|
rs751280804
|
0.00005
|
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg)
|
rs751804153
|
0.00005
|
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=)
|
rs375163463
|
0.00005
|
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=)
|
rs780332239
|
0.00005
|
NM_001042432.2(CLN3):c.101A>G (p.His34Arg)
|
rs759668300
|
0.00005
|
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)
|
rs145340637
|
0.00005
|
NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser)
|
rs752205710
|
0.00005
|
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)
|
rs373034150
|
0.00005
|
NM_001042432.2(CLN3):c.519T>C (p.Thr173=)
|
rs983162408
|
0.00005
|
NM_001042432.2(CLN3):c.615C>T (p.Ala205=)
|
rs145631076
|
0.00005
|
NM_001042432.2(CLN3):c.626C>T (p.Pro209Leu)
|
rs139417824
|
0.00005
|
NM_001042432.2(CLN3):c.84G>A (p.Leu28=)
|
rs1004740919
|
0.00005
|
NM_001042432.2(CLN3):c.975G>A (p.Leu325=)
|
rs150174473
|
0.00005
|
NM_001909.5(CTSD):c.1071+6C>T
|
rs759803379
|
0.00005
|
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)
|
rs779858404
|
0.00005
|
NM_001909.5(CTSD):c.216G>A (p.Lys72=)
|
rs764982673
|
0.00005
|
NM_001909.5(CTSD):c.37C>T (p.Leu13=)
|
rs763474887
|
0.00005
|
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)
|
rs777645484
|
0.00005
|
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)
|
rs768487717
|
0.00005
|
NM_001909.5(CTSD):c.534C>G (p.Val178=)
|
rs758852382
|
0.00005
|
NM_001909.5(CTSD):c.606C>G (p.Ala202=)
|
rs775478289
|
0.00005
|
NM_002087.4(GRN):c.102C>T (p.Pro34=)
|
rs63751074
|
0.00005
|
NM_002087.4(GRN):c.128G>A (p.Arg43His)
|
rs766068311
|
0.00005
|
NM_002087.4(GRN):c.1540G>A (p.Val514Met)
|
rs142926942
|
0.00005
|
NM_002087.4(GRN):c.501C>T (p.His167=)
|
rs372194047
|
0.00005
|
NM_002087.4(GRN):c.555C>T (p.His185=)
|
rs146250263
|
0.00005
|
NM_002087.4(GRN):c.634C>T (p.Arg212Trp)
|
rs139375860
|
0.00005
|
NM_002087.4(GRN):c.803C>T (p.Thr268Met)
|
rs202006119
|
0.00005
|
NM_002087.4(GRN):c.933+15C>T
|
rs1306228988
|
0.00005
|
NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys)
|
rs779164010
|
0.00005
|
NM_003793.4(CTSF):c.351C>T (p.His117=)
|
rs112809338
|
0.00005
|
NM_006493.4(CLN5):c.-21G>A
|
rs529998879
|
0.00005
|
NM_006493.4(CLN5):c.173+12G>T
|
rs781182241
|
0.00005
|
NM_006493.4(CLN5):c.687C>T (p.Tyr229=)
|
rs778480440
|
0.00005
|
NM_017882.3(CLN6):c.15G>A (p.Arg5=)
|
rs1008565735
|
0.00005
|
NM_017882.3(CLN6):c.204A>G (p.Val68=)
|
rs774960579
|
0.00005
|
NM_017882.3(CLN6):c.279G>A (p.Thr93=)
|
rs746613593
|
0.00005
|
NM_017882.3(CLN6):c.678C>T (p.Thr226=)
|
rs374744816
|
0.00005
|
NM_017882.3(CLN6):c.72C>T (p.Phe24=)
|
rs767394326
|
0.00005
|
NM_017882.3(CLN6):c.749G>A (p.Arg250His)
|
rs554594996
|
0.00005
|
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr)
|
rs143728911
|
0.00005
|
NM_018941.4(CLN8):c.246G>A (p.Leu82=)
|
rs144015378
|
0.00005
|
NM_018941.4(CLN8):c.666G>A (p.Leu222=)
|
rs532934034
|
0.00005
|
NM_022089.4(ATP13A2):c.106-4G>A
|
rs372541124
|
0.00005
|
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)
|
rs377186549
|
0.00005
|
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met)
|
rs142699829
|
0.00005
|
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val)
|
rs139909551
|
0.00005
|
NM_022089.4(ATP13A2):c.3084-16A>T
|
rs56299881
|
0.00005
|
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=)
|
rs773914880
|
0.00005
|
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys)
|
rs760715676
|
0.00005
|
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met)
|
rs367693423
|
0.00005
|
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=)
|
rs138649639
|
0.00005
|
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)
|
rs150519745
|
0.00005
|
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr)
|
rs141816878
|
0.00005
|
NM_025219.3(DNAJC5):c.231C>T (p.Asp77=)
|
rs766072943
|
0.00005
|
NM_025219.3(DNAJC5):c.486C>T (p.Asp162=)
|
rs145468246
|
0.00005
|
NM_025219.3(DNAJC5):c.513C>T (p.Ile171=)
|
rs745794091
|
0.00005
|
NM_025219.3(DNAJC5):c.52C>G (p.His18Asp)
|
rs780154907
|
0.00005
|
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val)
|
rs771447407
|
0.00004
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
NM_000520.6(HEXA):c.1421+17G>A
|
rs752975043
|
0.00004
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000520.6(HEXA):c.253+20C>T
|
rs772715699
|
0.00004
|
NM_000520.6(HEXA):c.347-15T>A
|
rs750626935
|
0.00004
|
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)
|
rs121907962
|
0.00004
|
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr)
|
rs757119445
|
0.00004
|
NM_000520.6(HEXA):c.981C>T (p.Thr327=)
|
rs1271376611
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000521.4(HEXB):c.1374A>G (p.Gln458=)
|
rs200714672
|
0.00004
|
NM_000521.4(HEXB):c.1508+7G>A
|
rs1016425766
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser)
|
rs200209801
|
0.00004
|
NM_000521.4(HEXB):c.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
NM_000784.4(CYP27A1):c.1185-15T>C
|
rs117727806
|
0.00004
|
NM_000784.4(CYP27A1):c.1477-10T>C
|
rs372756101
|
0.00004
|
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=)
|
rs577558935
|
0.00004
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
0.00004
|
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=)
|
rs750652986
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=)
|
rs921885901
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu)
|
rs186812403
|
0.00004
|
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val)
|
rs147321244
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_001042432.2(CLN3):c.1002C>T (p.Arg334=)
|
rs140828382
|
0.00004
|
NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys)
|
rs776725094
|
0.00004
|
NM_001042432.2(CLN3):c.1087G>A (p.Val363Met)
|
rs370963882
|
0.00004
|
NM_001042432.2(CLN3):c.1095C>T (p.Phe365=)
|
rs757106140
|
0.00004
|
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=)
|
rs376478363
|
0.00004
|
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)
|
rs777383109
|
0.00004
|
NM_001042432.2(CLN3):c.125+3G>A
|
rs775577824
|
0.00004
|
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met)
|
rs775999656
|
0.00004
|
NM_001042432.2(CLN3):c.264A>C (p.Ser88=)
|
rs751321507
|
0.00004
|
NM_001042432.2(CLN3):c.295-17C>T
|
rs375311626
|
0.00004
|
NM_001042432.2(CLN3):c.304C>T (p.Leu102=)
|
rs1167562278
|
0.00004
|
NM_001042432.2(CLN3):c.460+3G>A
|
rs779238243
|
0.00004
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg)
|
rs1311480802
|
0.00004
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=)
|
rs764106396
|
0.00004
|
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
|
rs778724059
|
0.00004
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)
|
rs796052401
|
0.00004
|
NM_001909.5(CTSD):c.393C>T (p.Tyr131=)
|
rs776128996
|
0.00004
|
NM_001909.5(CTSD):c.447G>A (p.Gly149=)
|
rs752032660
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_001909.5(CTSD):c.510C>T (p.Gly170=)
|
rs749196696
|
0.00004
|
NM_001909.5(CTSD):c.693C>T (p.Phe231=)
|
rs534216994
|
0.00004
|
NM_001909.5(CTSD):c.697C>T (p.Leu233=)
|
rs142330967
|
0.00004
|
NM_001909.5(CTSD):c.704+6C>T
|
rs370847523
|
0.00004
|
NM_001909.5(CTSD):c.828-4G>A
|
rs371034011
|
0.00004
|
NM_001909.5(CTSD):c.927C>T (p.Arg309=)
|
rs1174115566
|
0.00004
|
NM_001909.5(CTSD):c.972+7G>A
|
rs371747998
|
0.00004
|
NM_001909.5(CTSD):c.972+9C>T
|
rs746243061
|
0.00004
|
NM_002087.4(GRN):c.1145C>T (p.Thr382Met)
|
rs768333369
|
0.00004
|
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu)
|
rs148213321
|
0.00004
|
NM_002087.4(GRN):c.1226C>T (p.Thr409Met)
|
rs373885474
|
0.00004
|
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly)
|
rs780159686
|
0.00004
|
NM_002087.4(GRN):c.1648G>A (p.Val550Ile)
|
rs63750754
|
0.00004
|
NM_002087.4(GRN):c.1695C>T (p.Cys565=)
|
rs63751248
|
0.00004
|
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg)
|
rs145344570
|
0.00004
|
NM_002087.4(GRN):c.1721G>A (p.Arg574His)
|
rs756117423
|
0.00004
|
NM_002087.4(GRN):c.402G>A (p.Pro134=)
|
rs201932427
|
0.00004
|
NM_002087.4(GRN):c.552C>T (p.Thr184=)
|
rs141697391
|
0.00004
|
NM_002087.4(GRN):c.690C>T (p.Gly230=)
|
rs956842924
|
0.00004
|
NM_002087.4(GRN):c.698C>A (p.Pro233Gln)
|
rs63750455
|
0.00004
|
NM_002087.4(GRN):c.709-12G>C
|
rs771557106
|
0.00004
|
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=)
|
rs762134997
|
0.00004
|
NM_006493.4(CLN5):c.1A>T (p.Met1Leu)
|
rs371624826
|
0.00004
|
NM_006493.4(CLN5):c.27G>A (p.Gln9=)
|
rs373102871
|
0.00004
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)
|
rs768449493
|
0.00004
|
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn)
|
rs533231370
|
0.00004
|
NM_017882.3(CLN6):c.259A>G (p.Met87Val)
|
rs532180601
|
0.00004
|
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
|
rs143928329
|
0.00004
|
NM_017882.3(CLN6):c.487-13G>A
|
rs747926816
|
0.00004
|
NM_017882.3(CLN6):c.487-20C>T
|
rs772189210
|
0.00004
|
NM_017882.3(CLN6):c.564C>A (p.Ile188=)
|
rs371326037
|
0.00004
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys)
|
rs145746878
|
0.00004
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00004
|
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe)
|
rs746677418
|
0.00004
|
NM_018941.4(CLN8):c.279C>T (p.Ala93=)
|
rs372313992
|
0.00004
|
NM_018941.4(CLN8):c.332C>T (p.Thr111Met)
|
rs778188757
|
0.00004
|
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp)
|
rs143694317
|
0.00004
|
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln)
|
rs571617007
|
0.00004
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_018941.4(CLN8):c.523G>A (p.Val175Ile)
|
rs768139689
|
0.00004
|
NM_018941.4(CLN8):c.545C>T (p.Ala182Val)
|
rs541994118
|
0.00004
|
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)
|
rs756636772
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)
|
rs201956727
|
0.00004
|
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp)
|
rs587780898
|
0.00004
|
NM_022089.4(ATP13A2):c.1182G>T (p.Val394=)
|
rs372159448
|
0.00004
|
NM_022089.4(ATP13A2):c.144C>T (p.Ile48=)
|
rs375615601
|
0.00004
|
NM_022089.4(ATP13A2):c.153C>T (p.His51=)
|
rs759666274
|
0.00004
|
NM_022089.4(ATP13A2):c.1542+3G>A
|
rs747456787
|
0.00004
|
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys)
|
rs893985839
|
0.00004
|
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu)
|
rs758992649
|
0.00004
|
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)
|
rs747785443
|
0.00004
|
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=)
|
rs978493820
|
0.00004
|
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His)
|
rs745954026
|
0.00004
|
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met)
|
rs143579092
|
0.00004
|
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
NM_022089.4(ATP13A2):c.2745C>T (p.Cys915=)
|
rs372361807
|
0.00004
|
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)
|
rs768674400
|
0.00004
|
NM_022089.4(ATP13A2):c.2763-17C>T
|
rs367638044
|
0.00004
|
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile)
|
rs1401431520
|
0.00004
|
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=)
|
rs138212767
|
0.00004
|
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr)
|
rs757076945
|
0.00004
|
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr)
|
rs774238872
|
0.00004
|
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His)
|
rs371220869
|
0.00004
|
NM_022089.4(ATP13A2):c.3235+16C>T
|
rs373315947
|
0.00004
|
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys)
|
rs759327218
|
0.00004
|
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His)
|
rs533548757
|
0.00004
|
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly)
|
rs1050244144
|
0.00004
|
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr)
|
rs200934541
|
0.00004
|
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)
|
rs562519835
|
0.00004
|
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser)
|
rs199961048
|
0.00004
|
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys)
|
rs1221004929
|
0.00004
|
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=)
|
rs568367953
|
0.00004
|
NM_025219.3(DNAJC5):c.108-3C>T
|
rs541118679
|
0.00004
|
NM_025219.3(DNAJC5):c.420G>T (p.Ala140=)
|
rs568985915
|
0.00004
|
NM_000520.6(HEXA):c.1073+18G>A
|
rs756371964
|
0.00003
|
NM_000520.6(HEXA):c.1073+4A>G
|
rs780502991
|
0.00003
|
NM_000520.6(HEXA):c.1074-20G>T
|
rs776333373
|
0.00003
|
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)
|
rs121907958
|
0.00003
|
NM_000520.6(HEXA):c.1266G>T (p.Leu422=)
|
rs373023700
|
0.00003
|
NM_000520.6(HEXA):c.1421+12C>T
|
rs200757264
|
0.00003
|
NM_000520.6(HEXA):c.1422-10T>C
|
rs747528877
|
0.00003
|
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
|
rs1227959449
|
0.00003
|
NM_000520.6(HEXA):c.840G>A (p.Gly280=)
|
rs778823870
|
0.00003
|
NM_000521.4(HEXB):c.1281C>T (p.Ser427=)
|
rs140443258
|
0.00003
|
NM_000521.4(HEXB):c.1419T>C (p.Gly473=)
|
rs150778823
|
0.00003
|
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)
|
rs794727049
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000521.4(HEXB):c.633A>G (p.Arg211=)
|
rs750864626
|
0.00003
|
NM_000521.4(HEXB):c.657T>C (p.Ile219=)
|
rs141175812
|
0.00003
|
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu)
|
rs780927834
|
0.00003
|
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=)
|
rs746269951
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys)
|
rs774127681
|
0.00003
|
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=)
|
rs1039198612
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser)
|
rs371510438
|
0.00003
|
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)
|
rs1364383591
|
0.00003
|
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala)
|
rs1046723537
|
0.00003
|
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu)
|
rs773892447
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.447-10G>A
|
rs756808196
|
0.00003
|
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His)
|
rs761927223
|
0.00003
|
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=)
|
rs1487944910
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_000784.4(CYP27A1):c.647-4T>C
|
rs1943729690
|
0.00003
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln)
|
rs556715266
|
0.00003
|
NM_000784.4(CYP27A1):c.844+20G>A
|
rs200698553
|
0.00003
|
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)
|
rs202136743
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp)
|
rs371603253
|
0.00003
|
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=)
|
rs1341913523
|
0.00003
|
NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)
|
rs771305783
|
0.00003
|
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)
|
rs376907245
|
0.00003
|
NM_001042432.2(CLN3):c.1116C>T (p.Tyr372=)
|
rs142456044
|
0.00003
|
NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=)
|
rs371025471
|
0.00003
|
NM_001042432.2(CLN3):c.1198-5C>T
|
rs764999720
|
0.00003
|
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)
|
rs764585366
|
0.00003
|
NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)
|
rs146124686
|
0.00003
|
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)
|
rs778225078
|
0.00003
|
NM_001042432.2(CLN3):c.1269G>A (p.Ser423=)
|
rs200719311
|
0.00003
|
NM_001042432.2(CLN3):c.180C>T (p.His60=)
|
rs150120797
|
0.00003
|
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
|
rs769840061
|
0.00003
|
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)
|
rs149095062
|
0.00003
|
NM_001042432.2(CLN3):c.46+13G>A
|
rs532377265
|
0.00003
|
NM_001042432.2(CLN3):c.461-3C>A
|
rs181995380
|
0.00003
|
NM_001042432.2(CLN3):c.47-3C>T
|
rs377583228
|
0.00003
|
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)
|
rs1328657534
|
0.00003
|
NM_001042432.2(CLN3):c.677+17C>T
|
rs758724606
|
0.00003
|
NM_001042432.2(CLN3):c.69C>T (p.Pro23=)
|
rs754235288
|
0.00003
|
NM_001042432.2(CLN3):c.837+8T>A
|
rs1364896586
|
0.00003
|
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser)
|
rs796052341
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001909.5(CTSD):c.288C>T (p.Phe96=)
|
rs778220078
|
0.00003
|
NM_001909.5(CTSD):c.432G>A (p.Ser144=)
|
rs587780916
|
0.00003
|
NM_001909.5(CTSD):c.472-11C>G
|
rs753302848
|
0.00003
|
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)
|
rs775460488
|
0.00003
|
NM_001909.5(CTSD):c.69-17C>A
|
rs371858126
|
0.00003
|
NM_001909.5(CTSD):c.704+18C>T
|
rs371260793
|
0.00003
|
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)
|
rs145852974
|
0.00003
|
NM_001909.5(CTSD):c.771T>C (p.Gly257=)
|
rs376607594
|
0.00003
|
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)
|
rs145905196
|
0.00003
|
NM_001909.5(CTSD):c.828-5C>T
|
rs762444592
|
0.00003
|
NM_001909.5(CTSD):c.882G>A (p.Val294=)
|
rs778999077
|
0.00003
|
NM_001909.5(CTSD):c.945C>T (p.Ile315=)
|
rs752172496
|
0.00003
|
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
|
rs774332555
|
0.00003
|
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr)
|
rs149023078
|
0.00003
|
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys)
|
rs63750130
|
0.00003
|
NM_002087.4(GRN):c.1485C>T (p.Cys495=)
|
rs63750576
|
0.00003
|
NM_002087.4(GRN):c.302G>A (p.Arg101Gln)
|
rs201686997
|
0.00003
|
NM_002087.4(GRN):c.57G>T (p.Arg19=)
|
rs1426790644
|
0.00003
|
NM_002087.4(GRN):c.662G>C (p.Cys221Ser)
|
rs758322775
|
0.00003
|
NM_002087.4(GRN):c.827C>T (p.Ala276Val)
|
rs202178902
|
0.00003
|
NM_002087.4(GRN):c.861G>C (p.Glu287Asp)
|
rs63750565
|
0.00003
|
NM_002087.4(GRN):c.933+11G>A
|
rs373518235
|
0.00003
|
NM_003793.4(CTSF):c.1218C>T (p.Ala406=)
|
rs758499333
|
0.00003
|
NM_003793.4(CTSF):c.1253G>A (p.Arg418His)
|
rs141345438
|
0.00003
|
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp)
|
rs568250930
|
0.00003
|
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)
|
rs61504484
|
0.00003
|
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)
|
rs762873839
|
0.00003
|
NM_006493.2(CLN5):c.54A>G (p.Gln18=)
|
rs767480061
|
0.00003
|
NM_006493.4(CLN5):c.-103G>T
|
rs777933047
|
0.00003
|
NM_006493.4(CLN5):c.-123C>T
|
rs767048749
|
0.00003
|
NM_006493.4(CLN5):c.-141C>T
|
rs759859373
|
0.00003
|
NM_006493.4(CLN5):c.-14C>T
|
rs768714949
|
0.00003
|
NM_006493.4(CLN5):c.-78G>T
|
rs540811599
|
0.00003
|
NM_006493.4(CLN5):c.136G>T (p.Gly46Cys)
|
rs775102823
|
0.00003
|
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly)
|
rs1048147140
|
0.00003
|
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)
|
rs369122820
|
0.00003
|
NM_006493.4(CLN5):c.420A>G (p.Gln140=)
|
rs753732321
|
0.00003
|
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)
|
rs201464545
|
0.00003
|
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)
|
rs148544801
|
0.00003
|
NM_006493.4(CLN5):c.522dup (p.Trp175fs)
|
rs386833979
|
0.00003
|
NM_006493.4(CLN5):c.572T>C (p.Met191Thr)
|
rs771119692
|
0.00003
|
NM_006493.4(CLN5):c.78G>T (p.Trp26Cys)
|
rs104894385
|
0.00003
|
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile)
|
rs770688728
|
0.00003
|
NM_006493.4(CLN5):c.960G>C (p.Gln320His)
|
rs1455002686
|
0.00003
|
NM_017882.3(CLN6):c.120G>A (p.Thr40=)
|
rs1034192926
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_017882.3(CLN6):c.157C>T (p.Leu53=)
|
rs1172062931
|
0.00003
|
NM_017882.3(CLN6):c.329G>A (p.Arg110His)
|
rs140179213
|
0.00003
|
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
|
rs758830997
|
0.00003
|
NM_017882.3(CLN6):c.36G>A (p.Ala12=)
|
rs1048000119
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_017882.3(CLN6):c.534C>T (p.His178=)
|
rs763901402
|
0.00003
|
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser)
|
rs747575187
|
0.00003
|
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe)
|
rs751562146
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_017882.3(CLN6):c.821C>T (p.Ala274Val)
|
rs202012876
|
0.00003
|
NM_017882.3(CLN6):c.831C>T (p.Val277=)
|
rs753344266
|
0.00003
|
NM_017882.3(CLN6):c.870C>T (p.Tyr290=)
|
rs774291260
|
0.00003
|
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu)
|
rs373652272
|
0.00003
|
NM_017882.3(CLN6):c.924C>T (p.Ser308=)
|
rs774237925
|
0.00003
|
NM_018941.4(CLN8):c.137C>A (p.Ser46Tyr)
|
rs1418349889
|
0.00003
|
NM_018941.4(CLN8):c.206C>T (p.Thr69Met)
|
rs776409703
|
0.00003
|
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg)
|
rs919541697
|
0.00003
|
NM_018941.4(CLN8):c.270G>A (p.Val90=)
|
rs561448346
|
0.00003
|
NM_018941.4(CLN8):c.288G>A (p.Ala96=)
|
rs533351136
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_018941.4(CLN8):c.503T>C (p.Met168Thr)
|
rs374031055
|
0.00003
|
NM_018941.4(CLN8):c.543+17G>T
|
rs370471193
|
0.00003
|
NM_018941.4(CLN8):c.582G>A (p.Gln194=)
|
rs139824802
|
0.00003
|
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys)
|
rs778435359
|
0.00003
|
NM_018941.4(CLN8):c.66G>C (p.Gly22=)
|
rs763583156
|
0.00003
|
NM_018941.4(CLN8):c.697C>G (p.Leu233Val)
|
rs1380901432
|
0.00003
|
NM_018941.4(CLN8):c.726G>A (p.Thr242=)
|
rs200529220
|
0.00003
|
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu)
|
rs758068226
|
0.00003
|
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile)
|
rs1033088325
|
0.00003
|
NM_022089.4(ATP13A2):c.1104A>G (p.Thr368=)
|
rs762728165
|
0.00003
|
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=)
|
rs768482207
|
0.00003
|
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=)
|
rs373005131
|
0.00003
|
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His)
|
rs200337290
|
0.00003
|
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)
|
rs541385523
|
0.00003
|
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)
|
rs773246271
|
0.00003
|
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=)
|
rs148275181
|
0.00003
|
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=)
|
rs368244226
|
0.00003
|
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=)
|
rs147611385
|
0.00003
|
NM_022089.4(ATP13A2):c.2529+8C>T
|
rs771708290
|
0.00003
|
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile)
|
rs534590083
|
0.00003
|
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu)
|
rs376348581
|
0.00003
|
NM_022089.4(ATP13A2):c.2796C>T (p.Ser932=)
|
rs755542233
|
0.00003
|
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu)
|
rs146559160
|
0.00003
|
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys)
|
rs372182128
|
0.00003
|
NM_022089.4(ATP13A2):c.3360G>C (p.Leu1120=)
|
rs1170773460
|
0.00003
|
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=)
|
rs373514205
|
0.00003
|
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)
|
rs781135190
|
0.00003
|
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=)
|
rs371850140
|
0.00003
|
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val)
|
rs145031260
|
0.00003
|
NM_022089.4(ATP13A2):c.558-20C>T
|
rs749500132
|
0.00003
|
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys)
|
rs372857244
|
0.00003
|
NM_025219.3(DNAJC5):c.189G>A (p.Ala63=)
|
rs746052000
|
0.00003
|
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=)
|
rs1002205118
|
0.00003
|
NM_025219.3(DNAJC5):c.255C>T (p.Tyr85=)
|
rs749077830
|
0.00003
|
NM_025219.3(DNAJC5):c.322-5C>A
|
rs373568941
|
0.00003
|
NM_025219.3(DNAJC5):c.340G>A (p.Gly114Ser)
|
rs995618637
|
0.00003
|
NM_025219.3(DNAJC5):c.389A>G (p.Asn130Ser)
|
rs761814066
|
0.00003
|
NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu)
|
rs770758533
|
0.00003
|
NM_000520.6(HEXA):c.1014T>C (p.Phe338=)
|
rs149121118
|
0.00002
|
NM_000520.6(HEXA):c.120C>T (p.Tyr40=)
|
rs762382202
|
0.00002
|
NM_000520.6(HEXA):c.1230C>T (p.Ala410=)
|
rs751185874
|
0.00002
|
NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg)
|
rs772431056
|
0.00002
|
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)
|
rs202173526
|
0.00002
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
NM_000520.6(HEXA):c.1421G>T (p.Trp474Leu)
|
rs762374961
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.1557A>G (p.Val519=)
|
rs1327031567
|
0.00002
|
NM_000520.6(HEXA):c.1572G>A (p.Gln524=)
|
rs1389009140
|
0.00002
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.297A>C (p.Val99=)
|
rs766640260
|
0.00002
|
NM_000520.6(HEXA):c.347-12C>T
|
rs761854464
|
0.00002
|
NM_000520.6(HEXA):c.459+18A>G
|
rs751790486
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000520.6(HEXA):c.571-1G>T
|
rs185429231
|
0.00002
|
NM_000520.6(HEXA):c.616G>A (p.Val206Ile)
|
rs543071358
|
0.00002
|
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr)
|
rs756218457
|
0.00002
|
NM_000520.6(HEXA):c.805+7A>G
|
rs758135123
|
0.00002
|
NM_000520.6(HEXA):c.906C>T (p.Ser302=)
|
rs765612435
|
0.00002
|
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu)
|
rs754108567
|
0.00002
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
NM_000521.4(HEXB):c.1418-5T>C
|
rs773772578
|
0.00002
|
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)
|
rs751592419
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)
|
rs398123448
|
0.00002
|
NM_000521.4(HEXB):c.174C>T (p.Pro58=)
|
rs769964813
|
0.00002
|
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)
|
rs762209256
|
0.00002
|
NM_000521.4(HEXB):c.354C>T (p.Phe118=)
|
rs755175110
|
0.00002
|
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)
|
rs779453450
|
0.00002
|
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)
|
rs1352786910
|
0.00002
|
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=)
|
rs771343931
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe)
|
rs1215745374
|
0.00002
|
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=)
|
rs963559886
|
0.00002
|
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys)
|
rs539356203
|
0.00002
|
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln)
|
rs201107032
|
0.00002
|
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu)
|
rs781360671
|
0.00002
|
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=)
|
rs1229201370
|
0.00002
|
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn)
|
rs377290147
|
0.00002
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
|
rs778424069
|
0.00002
|
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)
|
rs764764261
|
0.00002
|
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=)
|
rs765555645
|
0.00002
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
|
rs1378044084
|
0.00002
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln)
|
rs754310499
|
0.00002
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)
|
rs72551319
|
0.00002
|
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu)
|
rs779794737
|
0.00002
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_001042432.2(CLN3):c.1135C>T (p.Leu379=)
|
rs890026046
|
0.00002
|
NM_001042432.2(CLN3):c.1186A>G (p.Ile396Val)
|
rs781253826
|
0.00002
|
NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp)
|
rs1216521924
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg)
|
rs769447444
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001042432.2(CLN3):c.243G>A (p.Pro81=)
|
rs779165392
|
0.00002
|
NM_001042432.2(CLN3):c.321C>T (p.Pro107=)
|
rs1223699867
|
0.00002
|
NM_001042432.2(CLN3):c.339G>A (p.Leu113=)
|
rs200356262
|
0.00002
|
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln)
|
rs780776829
|
0.00002
|
NM_001042432.2(CLN3):c.420C>G (p.Val140=)
|
rs544119921
|
0.00002
|
NM_001042432.2(CLN3):c.447G>T (p.Gly149=)
|
rs779918787
|
0.00002
|
NM_001042432.2(CLN3):c.46+18C>T
|
rs2046318191
|
0.00002
|
NM_001042432.2(CLN3):c.460+7G>C
|
rs369389378
|
0.00002
|
NM_001042432.2(CLN3):c.461-10C>T
|
rs768274237
|
0.00002
|
NM_001042432.2(CLN3):c.47-13C>T
|
rs370561457
|
0.00002
|
NM_001042432.2(CLN3):c.47-9C>T
|
rs148898302
|
0.00002
|
NM_001042432.2(CLN3):c.591G>A (p.Leu197=)
|
rs764082661
|
0.00002
|
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro)
|
rs749609898
|
0.00002
|
NM_001042432.2(CLN3):c.693C>T (p.Leu231=)
|
rs376590377
|
0.00002
|
NM_001042432.2(CLN3):c.741C>T (p.Ser247=)
|
rs148782327
|
0.00002
|
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)
|
rs764881080
|
0.00002
|
NM_001042432.2(CLN3):c.749G>A (p.Arg250Gln)
|
rs374217931
|
0.00002
|
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)
|
rs113041302
|
0.00002
|
NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln)
|
rs145270402
|
0.00002
|
NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr)
|
rs780974004
|
0.00002
|
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)
|
rs545364302
|
0.00002
|
NM_001909.5(CTSD):c.1101G>A (p.Leu367=)
|
rs777289049
|
0.00002
|
NM_001909.5(CTSD):c.19C>G (p.Leu7Val)
|
rs1470191996
|
0.00002
|
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)
|
rs1307108340
|
0.00002
|
NM_001909.5(CTSD):c.270G>A (p.Gln90=)
|
rs587780915
|
0.00002
|
NM_001909.5(CTSD):c.352+8A>T
|
rs944771031
|
0.00002
|
NM_001909.5(CTSD):c.352+9C>T
|
rs764034136
|
0.00002
|
NM_001909.5(CTSD):c.444C>T (p.Ser148=)
|
rs767817481
|
0.00002
|
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys)
|
rs757688598
|
0.00002
|
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)
|
rs796052403
|
0.00002
|
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
|
rs778031733
|
0.00002
|
NM_001909.5(CTSD):c.68+6G>A
|
rs1011130987
|
0.00002
|
NM_001909.5(CTSD):c.69-12C>T
|
rs764025297
|
0.00002
|
NM_001909.5(CTSD):c.69-16G>A
|
rs377703110
|
0.00002
|
NM_001909.5(CTSD):c.6G>A (p.Gln2=)
|
rs1328097097
|
0.00002
|
NM_001909.5(CTSD):c.717G>A (p.Ala239=)
|
rs368699900
|
0.00002
|
NM_002087.4(GRN):c.103G>A (p.Gly35Arg)
|
rs533451404
|
0.00002
|
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu)
|
rs63750537
|
0.00002
|
NM_002087.4(GRN):c.139-3T>C
|
rs371119011
|
0.00002
|
NM_002087.4(GRN):c.1433G>A (p.Arg478His)
|
rs140747584
|
0.00002
|
NM_002087.4(GRN):c.157C>G (p.Leu53Val)
|
rs906652114
|
0.00002
|
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp)
|
rs768297331
|
0.00002
|
NM_002087.4(GRN):c.208G>A (p.Gly70Ser)
|
rs772381732
|
0.00002
|
NM_002087.4(GRN):c.238A>T (p.Thr80Ser)
|
rs1022228740
|
0.00002
|
NM_002087.4(GRN):c.325G>A (p.Gly109Arg)
|
rs766292113
|
0.00002
|
NM_002087.4(GRN):c.327G>A (p.Gly109=)
|
rs753361816
|
0.00002
|
NM_002087.4(GRN):c.421G>A (p.Val141Ile)
|
rs63749853
|
0.00002
|
NM_002087.4(GRN):c.502G>A (p.Gly168Ser)
|
rs753070659
|
0.00002
|
NM_002087.4(GRN):c.530G>A (p.Arg177His)
|
rs753441122
|
0.00002
|
NM_002087.4(GRN):c.630C>T (p.Asp210=)
|
rs768056183
|
0.00002
|
NM_002087.4(GRN):c.723C>T (p.Ser241=)
|
rs200408271
|
0.00002
|
NM_002087.4(GRN):c.836-3C>T
|
rs771907059
|
0.00002
|
NM_002087.4(GRN):c.969C>T (p.Pro323=)
|
rs749575144
|
0.00002
|
NM_002087.4(GRN):c.989C>T (p.Thr330Met)
|
rs376059429
|
0.00002
|
NM_003793.4(CTSF):c.1230+14C>T
|
rs759960583
|
0.00002
|
NM_006493.2(CLN5):c.117G>C (p.Ser39=)
|
rs779934262
|
0.00002
|
NM_006493.2(CLN5):c.1A>C (p.Met1Leu)
|
rs1268502139
|
0.00002
|
NM_006493.2(CLN5):c.57C>A (p.Gly19=)
|
rs1057522685
|
0.00002
|
NM_006493.4(CLN5):c.-84C>A
|
rs558597827
|
0.00002
|
NM_006493.4(CLN5):c.1038C>T (p.Ile346=)
|
rs571023549
|
0.00002
|
NM_006493.4(CLN5):c.1047T>A (p.Pro349=)
|
rs775266818
|
0.00002
|
NM_006493.4(CLN5):c.105C>T (p.Leu35=)
|
rs755024034
|
0.00002
|
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)
|
rs778982551
|
0.00002
|
NM_006493.4(CLN5):c.173+16C>A
|
rs780975343
|
0.00002
|
NM_006493.4(CLN5):c.176G>A (p.Arg59His)
|
rs753197537
|
0.00002
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_006493.4(CLN5):c.333A>T (p.Gly111=)
|
rs751611392
|
0.00002
|
NM_006493.4(CLN5):c.339+5G>C
|
rs202146713
|
0.00002
|
NM_006493.4(CLN5):c.339+6G>A
|
rs1468101
|
0.00002
|
NM_006493.4(CLN5):c.366C>T (p.Phe122=)
|
rs374025536
|
0.00002
|
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)
|
rs142870036
|
0.00002
|
NM_006493.4(CLN5):c.57G>T (p.Ala19=)
|
rs2034188115
|
0.00002
|
NM_006493.4(CLN5):c.627T>C (p.Tyr209=)
|
rs763980789
|
0.00002
|
NM_006493.4(CLN5):c.654A>C (p.Pro218=)
|
rs752406072
|
0.00002
|
NM_006493.4(CLN5):c.804T>C (p.Tyr268=)
|
rs575331884
|
0.00002
|
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr)
|
rs796052344
|
0.00002
|
NM_006493.4(CLN5):c.831G>T (p.Gly277=)
|
rs749457168
|
0.00002
|
NM_006493.4(CLN5):c.892C>T (p.His298Tyr)
|
rs557876713
|
0.00002
|
NM_006493.4(CLN5):c.915G>A (p.Leu305=)
|
rs760172666
|
0.00002
|
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr)
|
rs182060681
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.343G>A (p.Val115Met)
|
rs762232673
|
0.00002
|
NM_017882.3(CLN6):c.423C>T (p.Gly141=)
|
rs1484448524
|
0.00002
|
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys)
|
rs1057524348
|
0.00002
|
NM_017882.3(CLN6):c.482C>T (p.Thr161Met)
|
rs757734645
|
0.00002
|
NM_017882.3(CLN6):c.489C>T (p.Ile163=)
|
rs748682605
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_017882.3(CLN6):c.582C>T (p.Ser194=)
|
rs769007090
|
0.00002
|
NM_017882.3(CLN6):c.666-3C>T
|
rs761161043
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_017882.3(CLN6):c.84-8C>T
|
rs756782429
|
0.00002
|
NM_017882.3(CLN6):c.84-9C>T
|
rs778471506
|
0.00002
|
NM_017882.3(CLN6):c.894G>A (p.Glu298=)
|
rs780421624
|
0.00002
|
NM_017882.3(CLN6):c.912C>T (p.Thr304=)
|
rs201330867
|
0.00002
|
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)
|
rs769900670
|
0.00002
|
NM_017882.3(CLN6):c.94G>C (p.Val32Leu)
|
rs369041224
|
0.00002
|
NM_017882.3(CLN6):c.99C>T (p.Ser33=)
|
rs752449801
|
0.00002
|
NM_018941.4(CLN8):c.111C>T (p.Gly37=)
|
rs753430388
|
0.00002
|
NM_018941.4(CLN8):c.147G>A (p.Leu49=)
|
rs555757531
|
0.00002
|
NM_018941.4(CLN8):c.161G>A (p.Arg54His)
|
rs372268977
|
0.00002
|
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)
|
rs765097897
|
0.00002
|
NM_018941.4(CLN8):c.222T>C (p.Gly74=)
|
rs966203442
|
0.00002
|
NM_018941.4(CLN8):c.284A>G (p.Lys95Arg)
|
rs1432496931
|
0.00002
|
NM_018941.4(CLN8):c.289C>T (p.Arg97Cys)
|
rs1285178214
|
0.00002
|
NM_018941.4(CLN8):c.411C>G (p.Ile137Met)
|
rs147224140
|
0.00002
|
NM_018941.4(CLN8):c.543+1G>T
|
rs756267448
|
0.00002
|
NM_018941.4(CLN8):c.558G>A (p.Glu186=)
|
rs769282149
|
0.00002
|
NM_018941.4(CLN8):c.598A>G (p.Met200Val)
|
rs749595247
|
0.00002
|
NM_018941.4(CLN8):c.660C>T (p.Asp220=)
|
rs768136048
|
0.00002
|
NM_018941.4(CLN8):c.823G>C (p.Glu275Gln)
|
rs749774943
|
0.00002
|
NM_018941.4(CLN8):c.837G>T (p.Gln279His)
|
rs774442159
|
0.00002
|
NM_018941.4(CLN8):c.840G>C (p.Leu280=)
|
rs762035651
|
0.00002
|
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)
|
rs770576740
|
0.00002
|
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys)
|
rs748309608
|
0.00002
|
NM_022089.4(ATP13A2):c.1196-9C>T
|
rs747077419
|
0.00002
|
NM_022089.4(ATP13A2):c.1307-14C>T
|
rs370771306
|
0.00002
|
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe)
|
rs772446950
|
0.00002
|
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=)
|
rs1032082452
|
0.00002
|
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met)
|
rs760443267
|
0.00002
|
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met)
|
rs752000462
|
0.00002
|
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys)
|
rs750152147
|
0.00002
|
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val)
|
rs760021599
|
0.00002
|
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=)
|
rs200868484
|
0.00002
|
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys)
|
rs770682887
|
0.00002
|
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala)
|
rs558165485
|
0.00002
|
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His)
|
rs756516383
|
0.00002
|
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=)
|
rs575694238
|
0.00002
|
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val)
|
rs543531903
|
0.00002
|
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys)
|
rs768327980
|
0.00002
|
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp)
|
rs753087058
|
0.00002
|
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln)
|
rs767725094
|
0.00002
|
NM_022089.4(ATP13A2):c.2251+6A>C
|
rs773458244
|
0.00002
|
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln)
|
rs766899425
|
0.00002
|
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys)
|
rs754208001
|
0.00002
|
NM_022089.4(ATP13A2):c.244C>T (p.Leu82=)
|
rs761558105
|
0.00002
|
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=)
|
rs556418739
|
0.00002
|
NM_022089.4(ATP13A2):c.2723C>T (p.Ser908Leu)
|
rs763069105
|
0.00002
|
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile)
|
rs370356637
|
0.00002
|
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met)
|
rs749677780
|
0.00002
|
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln)
|
rs747907490
|
0.00002
|
NM_022089.4(ATP13A2):c.3405+10G>A
|
rs375485447
|
0.00002
|
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln)
|
rs772666861
|
0.00002
|
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val)
|
rs764125787
|
0.00002
|
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp)
|
rs199624796
|
0.00002
|
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys)
|
rs376963085
|
0.00002
|
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=)
|
rs765706877
|
0.00002
|
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys)
|
rs754074592
|
0.00002
|
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser)
|
rs776406555
|
0.00002
|
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=)
|
rs780133367
|
0.00002
|
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr)
|
rs772414750
|
0.00002
|
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met)
|
rs771174890
|
0.00002
|
NM_022089.4(ATP13A2):c.975G>A (p.Gly325=)
|
rs915404570
|
0.00002
|
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=)
|
rs781164296
|
0.00002
|
NM_025219.3(DNAJC5):c.18G>A (p.Gln6=)
|
rs148585496
|
0.00002
|
NM_025219.3(DNAJC5):c.229G>A (p.Asp77Asn)
|
rs762638579
|
0.00002
|
NM_025219.3(DNAJC5):c.261C>T (p.Ala87=)
|
rs772397861
|
0.00002
|
NM_025219.3(DNAJC5):c.366C>T (p.Cys122=)
|
rs895228886
|
0.00002
|
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met)
|
rs779453928
|
0.00002
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=)
|
rs780478210
|
0.00002
|
NM_025219.3(DNAJC5):c.510G>A (p.Pro170=)
|
rs369508682
|
0.00002
|
NM_025219.3(DNAJC5):c.525G>A (p.Pro175=)
|
rs373237152
|
0.00002
|
NM_025219.3(DNAJC5):c.54C>T (p.His18=)
|
rs770638590
|
0.00002
|
NC_000013.11:g.76991969C>A
|
rs1439964955
|
0.00001
|
NC_000013.11:g.76992020C>G
|
rs1408667627
|
0.00001
|
NC_000013.11:g.76992031C>A
|
rs1168645936
|
0.00001
|
NC_000013.11:g.76992044C>T
|
rs958702453
|
0.00001
|
NC_000013.11:g.76992047C>T
|
rs751917173
|
0.00001
|
NC_000013.11:g.76992077C>A
|
rs1347085017
|
0.00001
|
NM_000520.6(HEXA):c.1032C>T (p.Phe344=)
|
rs762704131
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1047G>A (p.Lys349=)
|
rs746518979
|
0.00001
|
NM_000520.6(HEXA):c.1073+8A>T
|
rs2088641552
|
0.00001
|
NM_000520.6(HEXA):c.1086C>T (p.Ile362=)
|
rs749828204
|
0.00001
|
NM_000520.6(HEXA):c.1091C>T (p.Ser364Phe)
|
rs781611898
|
0.00001
|
NM_000520.6(HEXA):c.1092T>C (p.Ser364=)
|
rs757519934
|
0.00001
|
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)
|
rs764291005
|
0.00001
|
NM_000520.6(HEXA):c.1116G>A (p.Val372=)
|
rs753609749
|
0.00001
|
NM_000520.6(HEXA):c.1146+16G>A
|
rs1297838415
|
0.00001
|
NM_000520.6(HEXA):c.1168del (p.Gln390fs)
|
rs772879726
|
0.00001
|
NM_000520.6(HEXA):c.1173G>A (p.Val391=)
|
rs575836910
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.1254C>T (p.Ala418=)
|
rs1248988558
|
0.00001
|
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
|
rs774562271
|
0.00001
|
NM_000520.6(HEXA):c.1271G>A (p.Arg424His)
|
rs535095877
|
0.00001
|
NM_000520.6(HEXA):c.1309G>A (p.Val437Met)
|
rs2088616485
|
0.00001
|
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro)
|
rs752223090
|
0.00001
|
NM_000520.6(HEXA):c.132T>G (p.Phe44Leu)
|
rs1304040097
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1359T>C (p.Ile453=)
|
rs113941121
|
0.00001
|
NM_000520.6(HEXA):c.1375A>G (p.Met459Val)
|
rs547192168
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)
|
rs745996955
|
0.00001
|
NM_000520.6(HEXA):c.140A>G (p.Gln47Arg)
|
rs1015834087
|
0.00001
|
NM_000520.6(HEXA):c.1421+13G>A
|
rs375201437
|
0.00001
|
NM_000520.6(HEXA):c.1422-7C>T
|
rs1204984002
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.1434G>C (p.Gly478=)
|
rs1343812879
|
0.00001
|
NM_000520.6(HEXA):c.1438G>A (p.Val480Ile)
|
rs370638338
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
|
rs1185080097
|
0.00001
|
NM_000520.6(HEXA):c.1477C>T (p.Leu493=)
|
rs774313739
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.1526+12G>A
|
rs370449921
|
0.00001
|
NM_000520.6(HEXA):c.1527-10C>G
|
rs775281927
|
0.00001
|
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
|
rs786204585
|
0.00001
|
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
|
rs745432499
|
0.00001
|
NM_000520.6(HEXA):c.1545A>G (p.Gln515=)
|
rs369398952
|
0.00001
|
NM_000520.6(HEXA):c.1548C>T (p.Pro516=)
|
rs1322003883
|
0.00001
|
NM_000520.6(HEXA):c.167C>T (p.Pro56Leu)
|
rs955535343
|
0.00001
|
NM_000520.6(HEXA):c.168C>T (p.Pro56=)
|
rs777515618
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
|
rs753442808
|
0.00001
|
NM_000520.6(HEXA):c.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
NM_000520.6(HEXA):c.204T>C (p.Tyr68=)
|
rs2089056122
|
0.00001
|
NM_000520.6(HEXA):c.210C>T (p.Asp70=)
|
rs1377654671
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.237C>T (p.Pro79=)
|
rs763428989
|
0.00001
|
NM_000520.6(HEXA):c.241C>A (p.Pro81Thr)
|
rs144231599
|
0.00001
|
NM_000520.6(HEXA):c.253+1G>A
|
rs770093080
|
0.00001
|
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)
|
rs766966378
|
0.00001
|
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg)
|
rs1208872523
|
0.00001
|
NM_000520.6(HEXA):c.291C>T (p.Val97=)
|
rs776967919
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.303A>G (p.Thr101=)
|
rs970894400
|
0.00001
|
NM_000520.6(HEXA):c.325A>T (p.Thr109Ser)
|
rs1269110075
|
0.00001
|
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
|
rs141120074
|
0.00001
|
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
|
rs774220090
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
NM_000520.6(HEXA):c.346+2dup
|
rs1430416918
|
0.00001
|
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
|
rs1282031681
|
0.00001
|
NM_000520.6(HEXA):c.357C>T (p.Thr119=)
|
rs1242269336
|
0.00001
|
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
|
rs1365750130
|
0.00001
|
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln)
|
rs917904407
|
0.00001
|
NM_000520.6(HEXA):c.393T>G (p.Thr131=)
|
rs763015329
|
0.00001
|
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
|
rs769724246
|
0.00001
|
NM_000520.6(HEXA):c.412+13G>A
|
rs1391540037
|
0.00001
|
NM_000520.6(HEXA):c.413-19C>T
|
rs2088734265
|
0.00001
|
NM_000520.6(HEXA):c.413-4C>T
|
rs373382175
|
0.00001
|
NM_000520.6(HEXA):c.460-8C>T
|
rs1437923865
|
0.00001
|
NM_000520.6(HEXA):c.48C>T (p.Phe16=)
|
rs772706192
|
0.00001
|
NM_000520.6(HEXA):c.503C>T (p.Pro168Leu)
|
rs1459050143
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
|
rs1166889033
|
0.00001
|
NM_000520.6(HEXA):c.570G>T (p.Leu190=)
|
rs1188885214
|
0.00001
|
NM_000520.6(HEXA):c.571-16G>A
|
rs771550714
|
0.00001
|
NM_000520.6(HEXA):c.571-19T>G
|
rs576601675
|
0.00001
|
NM_000520.6(HEXA):c.574G>A (p.Val192Ile)
|
rs387906310
|
0.00001
|
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
|
rs753862880
|
0.00001
|
NM_000520.6(HEXA):c.597C>T (p.Asn199=)
|
rs756010672
|
0.00001
|
NM_000520.6(HEXA):c.598G>A (p.Val200Met)
|
rs1800429
|
0.00001
|
NM_000520.6(HEXA):c.621T>C (p.Asp207=)
|
rs763649208
|
0.00001
|
NM_000520.6(HEXA):c.636A>G (p.Pro212=)
|
rs774842392
|
0.00001
|
NM_000520.6(HEXA):c.664A>C (p.Met222Leu)
|
rs768751360
|
0.00001
|
NM_000520.6(HEXA):c.672+10C>T
|
rs2088689193
|
0.00001
|
NM_000520.6(HEXA):c.672+11G>A
|
rs1196402639
|
0.00001
|
NM_000520.6(HEXA):c.6A>G (p.Thr2=)
|
rs1372094460
|
0.00001
|
NM_000520.6(HEXA):c.705A>G (p.Thr235=)
|
rs781164103
|
0.00001
|
NM_000520.6(HEXA):c.735C>T (p.Tyr245=)
|
rs777460475
|
0.00001
|
NM_000520.6(HEXA):c.740G>A (p.Arg247Gln)
|
rs1360213217
|
0.00001
|
NM_000520.6(HEXA):c.741G>A (p.Arg247=)
|
rs76873846
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.755G>A (p.Arg252His)
|
rs762255098
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.795C>T (p.Ser265=)
|
rs746942625
|
0.00001
|
NM_000520.6(HEXA):c.7A>G (p.Ser3Gly)
|
rs1277583383
|
0.00001
|
NM_000520.6(HEXA):c.805+1G>C
|
rs121907980
|
0.00001
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
NM_000520.6(HEXA):c.867A>G (p.Pro289=)
|
rs1420729942
|
0.00001
|
NM_000520.6(HEXA):c.876C>T (p.Pro292=)
|
rs143009489
|
0.00001
|
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser)
|
rs199578185
|
0.00001
|
NM_000520.6(HEXA):c.901A>C (p.Met301Leu)
|
rs758871181
|
0.00001
|
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter)
|
rs1567297439
|
0.00001
|
NM_000520.6(HEXA):c.957T>C (p.Leu319=)
|
rs373799508
|
0.00001
|
NM_000520.6(HEXA):c.961G>A (p.Gly321Arg)
|
rs556877212
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000520.6(HEXA):c.987-14C>T
|
rs766562662
|
0.00001
|
NM_000520.6(HEXA):c.987-15T>C
|
rs754219266
|
0.00001
|
NM_000520.6(HEXA):c.987-18T>G
|
rs374977824
|
0.00001
|
NM_000520.6(HEXA):c.987-8G>C
|
rs760923149
|
0.00001
|
NM_000521.4(HEXB):c.1041A>G (p.Gln347=)
|
rs755091383
|
0.00001
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
0.00001
|
NM_000521.4(HEXB):c.1242+17C>A
|
rs1223566396
|
0.00001
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
NM_000521.4(HEXB):c.1243-2A>G
|
rs398123446
|
0.00001
|
NM_000521.4(HEXB):c.1243-8G>A
|
rs776913614
|
0.00001
|
NM_000521.4(HEXB):c.126G>A (p.Ala42=)
|
rs1457481809
|
0.00001
|
NM_000521.4(HEXB):c.138G>T (p.Pro46=)
|
rs1378693652
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr)
|
rs773007352
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
NM_000521.4(HEXB):c.1482T>C (p.Asp494=)
|
rs1241194558
|
0.00001
|
NM_000521.4(HEXB):c.1508+1G>A
|
rs758459585
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)
|
rs778501777
|
0.00001
|
NM_000521.4(HEXB):c.1539C>A (p.Leu513=)
|
rs1258974496
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000521.4(HEXB):c.1614-10T>C
|
rs1579958155
|
0.00001
|
NM_000521.4(HEXB):c.1614-16_1622dup
|
rs756912360
|
0.00001
|
NM_000521.4(HEXB):c.1614-4A>G
|
rs1182075193
|
0.00001
|
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val)
|
rs767663018
|
0.00001
|
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=)
|
rs1315099188
|
0.00001
|
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser)
|
rs763927371
|
0.00001
|
NM_000521.4(HEXB):c.180G>A (p.Pro60=)
|
rs772089862
|
0.00001
|
NM_000521.4(HEXB):c.189G>A (p.Val63=)
|
rs145144279
|
0.00001
|
NM_000521.4(HEXB):c.210G>T (p.Leu70=)
|
rs552152839
|
0.00001
|
NM_000521.4(HEXB):c.249C>T (p.Pro83=)
|
rs776301441
|
0.00001
|
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg)
|
rs1193552297
|
0.00001
|
NM_000521.4(HEXB):c.33G>T (p.Pro11=)
|
rs1207274571
|
0.00001
|
NM_000521.4(HEXB):c.36C>T (p.Pro12=)
|
rs1311449316
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.471G>A (p.Val157=)
|
rs918729308
|
0.00001
|
NM_000521.4(HEXB):c.486C>A (p.Ala162=)
|
rs1342668095
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.525T>C (p.Phe175=)
|
rs766197541
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr)
|
rs765229504
|
0.00001
|
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu)
|
rs865822685
|
0.00001
|
NM_000521.4(HEXB):c.654T>C (p.Ile218=)
|
rs1395527567
|
0.00001
|
NM_000521.4(HEXB):c.66G>A (p.Leu22=)
|
rs1355564918
|
0.00001
|
NM_000521.4(HEXB):c.69G>T (p.Leu23=)
|
rs1453045657
|
0.00001
|
NM_000521.4(HEXB):c.723C>T (p.Asp241=)
|
rs779260926
|
0.00001
|
NM_000521.4(HEXB):c.738T>C (p.Tyr246=)
|
rs777853621
|
0.00001
|
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe)
|
rs867255937
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)
|
rs138914144
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NM_000521.4(HEXB):c.855C>A (p.Val285=)
|
rs781190762
|
0.00001
|
NM_000521.4(HEXB):c.873C>T (p.Thr291=)
|
rs778593630
|
0.00001
|
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala)
|
rs1255790136
|
0.00001
|
NM_000521.4(HEXB):c.888A>G (p.Leu296=)
|
rs1186019854
|
0.00001
|
NM_000521.4(HEXB):c.902-5T>G
|
rs201521887
|
0.00001
|
NM_000521.4(HEXB):c.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+14G>A
|
rs1196582375
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+1G>A
|
rs1943742261
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+4C>T
|
rs763008570
|
0.00001
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln)
|
rs760471205
|
0.00001
|
NM_000784.4(CYP27A1):c.1086C>T (p.His362=)
|
rs139426361
|
0.00001
|
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=)
|
rs752360378
|
0.00001
|
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=)
|
rs202049251
|
0.00001
|
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val)
|
rs1201499588
|
0.00001
|
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr)
|
rs1201958431
|
0.00001
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-13C>A
|
rs772157208
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-16A>G
|
rs779178036
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-1G>A
|
rs587778779
|
0.00001
|
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
|
rs1453048118
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=)
|
rs779041544
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+10G>A
|
rs775546941
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+19C>A
|
rs377513951
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
0.00001
|
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=)
|
rs748358246
|
0.00001
|
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)
|
rs1238340088
|
0.00001
|
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
|
rs1337764272
|
0.00001
|
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)
|
rs886044581
|
0.00001
|
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=)
|
rs1943767251
|
0.00001
|
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg)
|
rs765660985
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro)
|
rs1480110004
|
0.00001
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=)
|
rs55998945
|
0.00001
|
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=)
|
rs755008787
|
0.00001
|
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=)
|
rs1423547583
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.1477-18G>A
|
rs886703307
|
0.00001
|
NM_000784.4(CYP27A1):c.1477-5C>A
|
rs890298373
|
0.00001
|
NM_000784.4(CYP27A1):c.1477-8C>T
|
rs1461082000
|
0.00001
|
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=)
|
rs1379650960
|
0.00001
|
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)
|
rs1336081746
|
0.00001
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val)
|
rs767162764
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
|
rs370013480
|
0.00001
|
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg)
|
rs143844199
|
0.00001
|
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=)
|
rs1375435703
|
0.00001
|
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys)
|
rs374507635
|
0.00001
|
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu)
|
rs376993392
|
0.00001
|
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=)
|
rs1943775029
|
0.00001
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=)
|
rs1366418494
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=)
|
rs747003400
|
0.00001
|
NM_000784.4(CYP27A1):c.255+8G>A
|
rs774689564
|
0.00001
|
NM_000784.4(CYP27A1):c.255+9C>T
|
rs762433789
|
0.00001
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
NM_000784.4(CYP27A1):c.256-8C>A
|
rs1416013036
|
0.00001
|
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=)
|
rs1559391394
|
0.00001
|
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=)
|
rs1696186258
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu)
|
rs531504325
|
0.00001
|
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=)
|
rs1413155008
|
0.00001
|
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)
|
rs1319938730
|
0.00001
|
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln)
|
rs1298533109
|
0.00001
|
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro)
|
rs1243753558
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg)
|
rs1253807962
|
0.00001
|
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=)
|
rs1553616026
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser)
|
rs1404621754
|
0.00001
|
NM_000784.4(CYP27A1):c.446+15G>A
|
rs775813515
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.447-7C>T
|
rs746321278
|
0.00001
|
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=)
|
rs988463082
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His)
|
rs1235744900
|
0.00001
|
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=)
|
rs749708223
|
0.00001
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val)
|
rs1203579586
|
0.00001
|
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp)
|
rs1045858420
|
0.00001
|
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile)
|
rs375643077
|
0.00001
|
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr)
|
rs757653354
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)
|
rs1943729887
|
0.00001
|
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys)
|
rs760323157
|
0.00001
|
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=)
|
rs1182190234
|
0.00001
|
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro)
|
rs1943398664
|
0.00001
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=)
|
rs1187804477
|
0.00001
|
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=)
|
rs1178297854
|
0.00001
|
NM_000784.4(CYP27A1):c.69C>T (p.His23=)
|
rs1444634924
|
0.00001
|
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=)
|
rs1943733748
|
0.00001
|
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=)
|
rs748075933
|
0.00001
|
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=)
|
rs1224145759
|
0.00001
|
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg)
|
rs746666035
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys)
|
rs192494481
|
0.00001
|
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala)
|
rs1271066819
|
0.00001
|
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg)
|
rs1274003022
|
0.00001
|
NM_000784.4(CYP27A1):c.845-3C>T
|
rs768674577
|
0.00001
|
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn)
|
rs958713867
|
0.00001
|
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr)
|
rs371056722
|
0.00001
|
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=)
|
rs59428328
|
0.00001
|
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro)
|
rs371133296
|
0.00001
|
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln)
|
rs769640126
|
0.00001
|
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=)
|
rs1227319154
|
0.00001
|
NM_001042432.2(CLN3):c.1005T>C (p.Ser335=)
|
rs1188156280
|
0.00001
|
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His)
|
rs557870972
|
0.00001
|
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp)
|
rs768479701
|
0.00001
|
NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys)
|
rs775195638
|
0.00001
|
NM_001042432.2(CLN3):c.102T>C (p.His34=)
|
rs774549218
|
0.00001
|
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)
|
rs150986176
|
0.00001
|
NM_001042432.2(CLN3):c.1057-16C>T
|
rs771215908
|
0.00001
|
NM_001042432.2(CLN3):c.1057-5C>T
|
rs1266477971
|
0.00001
|
NM_001042432.2(CLN3):c.1066C>T (p.Leu356=)
|
rs1222084100
|
0.00001
|
NM_001042432.2(CLN3):c.1074C>T (p.Phe358=)
|
rs1275580991
|
0.00001
|
NM_001042432.2(CLN3):c.1078C>T (p.Leu360=)
|
rs1232787477
|
0.00001
|
NM_001042432.2(CLN3):c.108G>A (p.Lys36=)
|
rs761453819
|
0.00001
|
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val)
|
rs147658282
|
0.00001
|
NM_001042432.2(CLN3):c.1152G>C (p.Leu384=)
|
rs762171432
|
0.00001
|
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr)
|
rs768614719
|
0.00001
|
NM_001042432.2(CLN3):c.1179C>T (p.Phe393=)
|
rs755948129
|
0.00001
|
NM_001042432.2(CLN3):c.1188C>T (p.Ile396=)
|
rs926869261
|
0.00001
|
NM_001042432.2(CLN3):c.1191C>T (p.Ala397=)
|
rs779338007
|
0.00001
|
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val)
|
rs751114018
|
0.00001
|
NM_001042432.2(CLN3):c.1197+14G>A
|
rs764711492
|
0.00001
|
NM_001042432.2(CLN3):c.1198-14C>G
|
rs757911107
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.120C>T (p.Gly40=)
|
rs1457597143
|
0.00001
|
NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln)
|
rs747861558
|
0.00001
|
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)
|
rs776443981
|
0.00001
|
NM_001042432.2(CLN3):c.1233C>T (p.Ala411=)
|
rs1220767949
|
0.00001
|
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)
|
rs1064795206
|
0.00001
|
NM_001042432.2(CLN3):c.1242C>T (p.Ile414=)
|
rs1064886
|
0.00001
|
NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala)
|
rs570472210
|
0.00001
|
NM_001042432.2(CLN3):c.125+5G>A
|
rs386833704
|
0.00001
|
NM_001042432.2(CLN3):c.125+6T>C
|
rs745440092
|
0.00001
|
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)
|
rs796052338
|
0.00001
|
NM_001042432.2(CLN3):c.1257G>T (p.Gly419=)
|
rs756893993
|
0.00001
|
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)
|
rs386833706
|
0.00001
|
NM_001042432.2(CLN3):c.129G>A (p.Leu43=)
|
rs755493834
|
0.00001
|
NM_001042432.2(CLN3):c.144C>T (p.Asn48=)
|
rs1289753739
|
0.00001
|
NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser)
|
rs1474384057
|
0.00001
|
NM_001042432.2(CLN3):c.147C>T (p.Asn49=)
|
rs571216643
|
0.00001
|
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)
|
rs780151271
|
0.00001
|
NM_001042432.2(CLN3):c.181G>A (p.Asp61Asn)
|
rs772851701
|
0.00001
|
NM_001042432.2(CLN3):c.196A>G (p.Lys66Glu)
|
rs963189449
|
0.00001
|
NM_001042432.2(CLN3):c.1A>G (p.Met1Val)
|
rs386833708
|
0.00001
|
NM_001042432.2(CLN3):c.207G>A (p.Ser69=)
|
rs551476103
|
0.00001
|
NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu)
|
rs747526330
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001042432.2(CLN3):c.223-10C>T
|
rs1467517533
|
0.00001
|
NM_001042432.2(CLN3):c.223-3T>C
|
rs776314679
|
0.00001
|
NM_001042432.2(CLN3):c.253A>C (p.Asn85His)
|
rs996285915
|
0.00001
|
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)
|
rs766287694
|
0.00001
|
NM_001042432.2(CLN3):c.277A>G (p.Asn93Asp)
|
rs761369095
|
0.00001
|
NM_001042432.2(CLN3):c.294+12_294+14del
|
rs777491825
|
0.00001
|
NM_001042432.2(CLN3):c.294+5G>A
|
rs780921389
|
0.00001
|
NM_001042432.2(CLN3):c.295-3C>T
|
rs767755377
|
0.00001
|
NM_001042432.2(CLN3):c.298G>C (p.Val100Leu)
|
rs1478662819
|
0.00001
|
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val)
|
rs760039703
|
0.00001
|
NM_001042432.2(CLN3):c.309G>A (p.Ala103=)
|
rs774996613
|
0.00001
|
NM_001042432.2(CLN3):c.327C>T (p.Leu109=)
|
rs748293490
|
0.00001
|
NM_001042432.2(CLN3):c.328G>A (p.Val110Ile)
|
rs781534624
|
0.00001
|
NM_001042432.2(CLN3):c.331A>G (p.Ile111Val)
|
rs1331033517
|
0.00001
|
NM_001042432.2(CLN3):c.33T>C (p.Phe11=)
|
rs1555469504
|
0.00001
|
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp)
|
rs753305901
|
0.00001
|
NM_001042432.2(CLN3):c.374+9G>A
|
rs766949077
|
0.00001
|
NM_001042432.2(CLN3):c.375-10A>G
|
rs1282980213
|
0.00001
|
NM_001042432.2(CLN3):c.375-6C>G
|
rs780653906
|
0.00001
|
NM_001042432.2(CLN3):c.375-7C>T
|
rs1224517800
|
0.00001
|
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)
|
rs201168980
|
0.00001
|
NM_001042432.2(CLN3):c.381G>C (p.Arg127=)
|
rs750889321
|
0.00001
|
NM_001042432.2(CLN3):c.387C>T (p.Leu129=)
|
rs765776873
|
0.00001
|
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val)
|
rs1295659689
|
0.00001
|
NM_001042432.2(CLN3):c.399T>C (p.Ile133=)
|
rs775739498
|
0.00001
|
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)
|
rs371590088
|
0.00001
|
NM_001042432.2(CLN3):c.437A>G (p.His146Arg)
|
rs1197989757
|
0.00001
|
NM_001042432.2(CLN3):c.461-16C>T
|
rs753816100
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042432.2(CLN3):c.461-4C>A
|
rs1006236175
|
0.00001
|
NM_001042432.2(CLN3):c.461-4C>T
|
rs1006236175
|
0.00001
|
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)
|
rs779304920
|
0.00001
|
NM_001042432.2(CLN3):c.47-11C>A
|
rs561083322
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.47-7C>T
|
rs776361372
|
0.00001
|
NM_001042432.2(CLN3):c.471C>T (p.Phe157=)
|
rs140670783
|
0.00001
|
NM_001042432.2(CLN3):c.533+10T>G
|
rs1447196278
|
0.00001
|
NM_001042432.2(CLN3):c.533+18G>A
|
rs376160790
|
0.00001
|
NM_001042432.2(CLN3):c.538G>A (p.Val180Met)
|
rs202215629
|
0.00001
|
NM_001042432.2(CLN3):c.543C>T (p.Ile181=)
|
rs2046221104
|
0.00001
|
NM_001042432.2(CLN3):c.558A>G (p.Ser186=)
|
rs1270038866
|
0.00001
|
NM_001042432.2(CLN3):c.576G>A (p.Gly192=)
|
rs566516380
|
0.00001
|
NM_001042432.2(CLN3):c.621C>G (p.Leu207=)
|
rs1596561484
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001042432.2(CLN3):c.634A>G (p.Thr212Ala)
|
rs1335425316
|
0.00001
|
NM_001042432.2(CLN3):c.647T>A (p.Met216Lys)
|
rs773602052
|
0.00001
|
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln)
|
rs781613318
|
0.00001
|
NM_001042432.2(CLN3):c.677+19G>A
|
rs367594758
|
0.00001
|
NM_001042432.2(CLN3):c.678-19G>A
|
rs770134980
|
0.00001
|
NM_001042432.2(CLN3):c.67C>T (p.Pro23Ser)
|
rs757558651
|
0.00001
|
NM_001042432.2(CLN3):c.685T>C (p.Leu229=)
|
rs779965094
|
0.00001
|
NM_001042432.2(CLN3):c.687G>A (p.Leu229=)
|
rs772327361
|
0.00001
|
NM_001042432.2(CLN3):c.740G>A (p.Ser247Asn)
|
rs1295758958
|
0.00001
|
NM_001042432.2(CLN3):c.742G>A (p.Ala248Thr)
|
rs750008067
|
0.00001
|
NM_001042432.2(CLN3):c.752A>C (p.Gln251Pro)
|
rs776890506
|
0.00001
|
NM_001042432.2(CLN3):c.757C>G (p.Leu253Val)
|
rs776122422
|
0.00001
|
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr)
|
rs745948575
|
0.00001
|
NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)
|
rs771303379
|
0.00001
|
NM_001042432.2(CLN3):c.773C>T (p.Ala258Val)
|
rs780823167
|
0.00001
|
NM_001042432.2(CLN3):c.777G>A (p.Pro259=)
|
rs751443804
|
0.00001
|
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)
|
rs199627744
|
0.00001
|
NM_001042432.2(CLN3):c.783G>A (p.Ser261=)
|
rs752632879
|
0.00001
|
NM_001042432.2(CLN3):c.790+9C>T
|
rs1220855528
|
0.00001
|
NM_001042432.2(CLN3):c.791-7C>A
|
rs942972881
|
0.00001
|
NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg)
|
rs1398814860
|
0.00001
|
NM_001042432.2(CLN3):c.837+12G>A
|
rs763812265
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.850T>C (p.Tyr284His)
|
rs201090501
|
0.00001
|
NM_001042432.2(CLN3):c.860C>T (p.Pro287Leu)
|
rs1262182257
|
0.00001
|
NM_001042432.2(CLN3):c.871G>C (p.Val291Leu)
|
rs1218676230
|
0.00001
|
NM_001042432.2(CLN3):c.875A>G (p.Tyr292Cys)
|
rs755402909
|
0.00001
|
NM_001042432.2(CLN3):c.882C>T (p.Ala294=)
|
rs766972077
|
0.00001
|
NM_001042432.2(CLN3):c.89A>G (p.His30Arg)
|
rs1399199073
|
0.00001
|
NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp)
|
rs756062000
|
0.00001
|
NM_001042432.2(CLN3):c.906+2T>A
|
rs771788391
|
0.00001
|
NM_001042432.2(CLN3):c.945C>T (p.His315=)
|
rs747723206
|
0.00001
|
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)
|
rs796052335
|
0.00001
|
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys)
|
rs768466445
|
0.00001
|
NM_001042432.2(CLN3):c.962+11C>T
|
rs1419376753
|
0.00001
|
NM_001042432.2(CLN3):c.962+12G>A
|
rs780419236
|
0.00001
|
NM_001042432.2(CLN3):c.962+2T>G
|
rs746674736
|
0.00001
|
NM_001042432.2(CLN3):c.962+3A>T
|
rs796052336
|
0.00001
|
NM_001042432.2(CLN3):c.963-17C>G
|
rs746616613
|
0.00001
|
NM_001042432.2(CLN3):c.963-1G>A
|
rs386833742
|
0.00001
|
NM_001042432.2(CLN3):c.987C>T (p.Gly329=)
|
rs777779035
|
0.00001
|
NM_001042432.2(CLN3):c.999C>A (p.Ser333=)
|
rs1312281174
|
0.00001
|
NM_001042432.2(CLN3):c.99G>T (p.Ala33=)
|
rs1342527040
|
0.00001
|
NM_001909.5(CTSD):c.1008C>T (p.Pro336=)
|
rs769758232
|
0.00001
|
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)
|
rs1240316419
|
0.00001
|
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)
|
rs796052406
|
0.00001
|
NM_001909.5(CTSD):c.1065G>A (p.Thr355=)
|
rs377098800
|
0.00001
|
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe)
|
rs775579878
|
0.00001
|
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)
|
rs765270800
|
0.00001
|
NM_001909.5(CTSD):c.1071+17G>A
|
rs779757362
|
0.00001
|
NM_001909.5(CTSD):c.1072-9C>T
|
rs1239405435
|
0.00001
|
NM_001909.5(CTSD):c.1083C>T (p.Ala361=)
|
rs770325576
|
0.00001
|
NM_001909.5(CTSD):c.1104C>T (p.Ser368=)
|
rs771647299
|
0.00001
|
NM_001909.5(CTSD):c.1116C>T (p.Gly372=)
|
rs557342549
|
0.00001
|
NM_001909.5(CTSD):c.1128G>A (p.Pro376=)
|
rs929763593
|
0.00001
|
NM_001909.5(CTSD):c.1140G>A (p.Gly380=)
|
rs573523415
|
0.00001
|
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)
|
rs767863175
|
0.00001
|
NM_001909.5(CTSD):c.1158C>T (p.Gly386=)
|
rs762076054
|
0.00001
|
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn)
|
rs764522039
|
0.00001
|
NM_001909.5(CTSD):c.1170C>T (p.Ile390=)
|
rs370985523
|
0.00001
|
NM_001909.5(CTSD):c.1209G>A (p.Arg403=)
|
rs756019204
|
0.00001
|
NM_001909.5(CTSD):c.1221C>T (p.Ala407=)
|
rs1439111867
|
0.00001
|
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
|
rs554062876
|
0.00001
|
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
|
rs766987476
|
0.00001
|
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
|
rs200303993
|
0.00001
|
NM_001909.5(CTSD):c.127G>C (p.Val43Leu)
|
rs1252146408
|
0.00001
|
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)
|
rs573939509
|
0.00001
|
NM_001909.5(CTSD):c.150C>T (p.Gly50=)
|
rs151292135
|
0.00001
|
NM_001909.5(CTSD):c.183C>T (p.Ala61=)
|
rs370571459
|
0.00001
|
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)
|
rs539823013
|
0.00001
|
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu)
|
rs1335299144
|
0.00001
|
NM_001909.5(CTSD):c.204C>T (p.Pro68=)
|
rs563052262
|
0.00001
|
NM_001909.5(CTSD):c.223A>G (p.Met75Val)
|
rs144192783
|
0.00001
|
NM_001909.5(CTSD):c.228+14C>A
|
rs1845872918
|
0.00001
|
NM_001909.5(CTSD):c.228C>T (p.Asp76=)
|
rs587780914
|
0.00001
|
NM_001909.5(CTSD):c.229-19G>A
|
rs368152533
|
0.00001
|
NM_001909.5(CTSD):c.229-20C>T
|
rs748457876
|
0.00001
|
NM_001909.5(CTSD):c.237C>T (p.Tyr79=)
|
rs996421254
|
0.00001
|
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)
|
rs199551387
|
0.00001
|
NM_001909.5(CTSD):c.244G>T (p.Glu82Ter)
|
rs1845850847
|
0.00001
|
NM_001909.5(CTSD):c.24G>C (p.Pro8=)
|
rs1478870280
|
0.00001
|
NM_001909.5(CTSD):c.260C>T (p.Thr87Met)
|
rs770248571
|
0.00001
|
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn)
|
rs754680487
|
0.00001
|
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)
|
rs1049074086
|
0.00001
|
NM_001909.5(CTSD):c.345C>T (p.Ile115=)
|
rs200875086
|
0.00001
|
NM_001909.5(CTSD):c.353-20C>T
|
rs1845843686
|
0.00001
|
NM_001909.5(CTSD):c.353-7G>A
|
rs1438596750
|
0.00001
|
NM_001909.5(CTSD):c.366G>A (p.Lys122=)
|
rs369424685
|
0.00001
|
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser)
|
rs375052866
|
0.00001
|
NM_001909.5(CTSD):c.375C>T (p.Ser125=)
|
rs987735225
|
0.00001
|
NM_001909.5(CTSD):c.380A>T (p.Lys127Met)
|
rs1438409242
|
0.00001
|
NM_001909.5(CTSD):c.408C>G (p.Thr136=)
|
rs1060504644
|
0.00001
|
NM_001909.5(CTSD):c.423C>G (p.His141Gln)
|
rs375323994
|
0.00001
|
NM_001909.5(CTSD):c.471G>A (p.Ser157=)
|
rs760318745
|
0.00001
|
NM_001909.5(CTSD):c.472-15T>C
|
rs758874267
|
0.00001
|
NM_001909.5(CTSD):c.488C>T (p.Ala163Val)
|
rs772976217
|
0.00001
|
NM_001909.5(CTSD):c.489G>A (p.Ala163=)
|
rs767476700
|
0.00001
|
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)
|
rs1845824897
|
0.00001
|
NM_001909.5(CTSD):c.492G>A (p.Ser164=)
|
rs577842448
|
0.00001
|
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)
|
rs746140722
|
0.00001
|
NM_001909.5(CTSD):c.51C>T (p.Pro17=)
|
rs1275398258
|
0.00001
|
NM_001909.5(CTSD):c.54C>T (p.Ala18=)
|
rs753164840
|
0.00001
|
NM_001909.5(CTSD):c.552G>A (p.Lys184=)
|
rs765849046
|
0.00001
|
NM_001909.5(CTSD):c.60G>A (p.Ala20=)
|
rs1225756370
|
0.00001
|
NM_001909.5(CTSD):c.621C>A (p.Ser207=)
|
rs367978332
|
0.00001
|
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
|
rs779469223
|
0.00001
|
NM_001909.5(CTSD):c.636G>T (p.Leu212=)
|
rs567625495
|
0.00001
|
NM_001909.5(CTSD):c.63C>T (p.Leu21=)
|
rs1021613206
|
0.00001
|
NM_001909.5(CTSD):c.640G>A (p.Val214Ile)
|
rs756998360
|
0.00001
|
NM_001909.5(CTSD):c.651C>T (p.Asn217=)
|
rs1300811596
|
0.00001
|
NM_001909.5(CTSD):c.654G>A (p.Leu218=)
|
rs201551100
|
0.00001
|
NM_001909.5(CTSD):c.675C>T (p.Asp225=)
|
rs752646929
|
0.00001
|
NM_001909.5(CTSD):c.69-11G>A
|
rs199970909
|
0.00001
|
NM_001909.5(CTSD):c.704+13G>A
|
rs1337575299
|
0.00001
|
NM_001909.5(CTSD):c.705-4C>T
|
rs1057521968
|
0.00001
|
NM_001909.5(CTSD):c.705-8C>T
|
rs754748489
|
0.00001
|
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
|
rs759564989
|
0.00001
|
NM_001909.5(CTSD):c.726G>A (p.Gly242=)
|
rs774246142
|
0.00001
|
NM_001909.5(CTSD):c.729T>C (p.Gly243=)
|
rs774691757
|
0.00001
|
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)
|
rs769626991
|
0.00001
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)
|
rs746312808
|
0.00001
|
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)
|
rs373621431
|
0.00001
|
NM_001909.5(CTSD):c.827+14G>A
|
rs952272760
|
0.00001
|
NM_001909.5(CTSD):c.827+19C>T
|
rs565656268
|
0.00001
|
NM_001909.5(CTSD):c.827+20G>A
|
rs763211820
|
0.00001
|
NM_001909.5(CTSD):c.827+9T>A
|
rs757270638
|
0.00001
|
NM_001909.5(CTSD):c.828-14_828-13del
|
rs796052395
|
0.00001
|
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
|
rs372319807
|
0.00001
|
NM_001909.5(CTSD):c.843C>T (p.Ser281=)
|
rs776321697
|
0.00001
|
NM_001909.5(CTSD):c.891C>T (p.Gly297=)
|
rs755183661
|
0.00001
|
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)
|
rs1256954867
|
0.00001
|
NM_001909.5(CTSD):c.89C>T (p.Thr30Met)
|
rs747274524
|
0.00001
|
NM_001909.5(CTSD):c.933G>A (p.Leu311=)
|
rs1428157464
|
0.00001
|
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)
|
rs764766572
|
0.00001
|
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)
|
rs373170074
|
0.00001
|
NM_001909.5(CTSD):c.972+10G>A
|
rs531682785
|
0.00001
|
NM_001909.5(CTSD):c.972+6C>T
|
rs765320531
|
0.00001
|
NM_001909.5(CTSD):c.973-10C>T
|
rs542809677
|
0.00001
|
NM_001909.5(CTSD):c.973-14G>A
|
rs1354741089
|
0.00001
|
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)
|
rs370282882
|
0.00001
|
NM_001909.5(CTSD):c.993G>A (p.Lys331=)
|
rs1181418072
|
0.00001
|
NM_002087.4(GRN):c.100C>T (p.Pro34Ser)
|
rs748147151
|
0.00001
|
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)
|
rs1598364961
|
0.00001
|
NM_002087.4(GRN):c.1019A>T (p.His340Leu)
|
rs775196555
|
0.00001
|
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe)
|
rs1480952239
|
0.00001
|
NM_002087.4(GRN):c.1125C>T (p.Ser375=)
|
rs569994549
|
0.00001
|
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu)
|
rs748829798
|
0.00001
|
NM_002087.4(GRN):c.1145del (p.Thr382fs)
|
rs63750805
|
0.00001
|
NM_002087.4(GRN):c.1146G>A (p.Thr382=)
|
rs200308105
|
0.00001
|
NM_002087.4(GRN):c.1180-16C>A
|
rs1167667946
|
0.00001
|
NM_002087.4(GRN):c.1180-8C>T
|
rs774308165
|
0.00001
|
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu)
|
rs956013468
|
0.00001
|
NM_002087.4(GRN):c.1221C>A (p.Gly407=)
|
rs201630084
|
0.00001
|
NM_002087.4(GRN):c.1241G>T (p.Gly414Val)
|
rs63750920
|
0.00001
|
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu)
|
rs775888774
|
0.00001
|
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu)
|
rs749595402
|
0.00001
|
NM_002087.4(GRN):c.1269G>A (p.Val423=)
|
rs1472989013
|
0.00001
|
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala)
|
rs200645022
|
0.00001
|
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu)
|
rs752428000
|
0.00001
|
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)
|
rs751072702
|
0.00001
|
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu)
|
rs63750007
|
0.00001
|
NM_002087.4(GRN):c.1425C>T (p.Cys475=)
|
rs63751104
|
0.00001
|
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys)
|
rs781387612
|
0.00001
|
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu)
|
rs774128685
|
0.00001
|
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile)
|
rs772784579
|
0.00001
|
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)
|
rs63751294
|
0.00001
|
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys)
|
rs764615963
|
0.00001
|
NM_002087.4(GRN):c.1521C>T (p.Phe507=)
|
rs140070738
|
0.00001
|
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln)
|
rs753857985
|
0.00001
|
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys)
|
rs748764855
|
0.00001
|
NM_002087.4(GRN):c.1736G>A (p.Arg579His)
|
rs373138049
|
0.00001
|
NM_002087.4(GRN):c.250T>C (p.Cys84Arg)
|
rs1598362876
|
0.00001
|
NM_002087.4(GRN):c.254C>T (p.Pro85Leu)
|
rs1275075189
|
0.00001
|
NM_002087.4(GRN):c.267C>T (p.Ala89=)
|
rs201699327
|
0.00001
|
NM_002087.4(GRN):c.280G>A (p.Asp94Asn)
|
rs375678079
|
0.00001
|
NM_002087.4(GRN):c.2T>C (p.Met1Thr)
|
rs63751006
|
0.00001
|
NM_002087.4(GRN):c.394G>A (p.Glu132Lys)
|
rs770662203
|
0.00001
|
NM_002087.4(GRN):c.498G>A (p.Pro166=)
|
rs141873754
|
0.00001
|
NM_002087.4(GRN):c.529C>T (p.Arg177Cys)
|
rs751651838
|
0.00001
|
NM_002087.4(GRN):c.54G>A (p.Thr18=)
|
rs753160641
|
0.00001
|
NM_002087.4(GRN):c.568A>C (p.Lys190Gln)
|
rs768727709
|
0.00001
|
NM_002087.4(GRN):c.58T>C (p.Cys20Arg)
|
rs542613543
|
0.00001
|
NM_002087.4(GRN):c.620T>C (p.Met207Thr)
|
rs776198499
|
0.00001
|
NM_002087.4(GRN):c.627G>A (p.Pro209=)
|
rs374385285
|
0.00001
|
NM_002087.4(GRN):c.62C>T (p.Pro21Leu)
|
rs745947095
|
0.00001
|
NM_002087.4(GRN):c.69T>C (p.Gly23=)
|
rs756420341
|
0.00001
|
NM_002087.4(GRN):c.708+1G>A
|
rs63749817
|
0.00001
|
NM_002087.4(GRN):c.708C>T (p.Asn236=)
|
rs63750744
|
0.00001
|
NM_002087.4(GRN):c.709-8C>T
|
rs373210564
|
0.00001
|
NM_002087.4(GRN):c.804G>A (p.Thr268=)
|
rs63750229
|
0.00001
|
NM_002087.4(GRN):c.891C>T (p.Cys297=)
|
rs1341898712
|
0.00001
|
NM_002087.4(GRN):c.892C>T (p.Arg298Cys)
|
rs768033215
|
0.00001
|
NM_002087.4(GRN):c.902C>T (p.Ser301Leu)
|
rs1026683055
|
0.00001
|
NM_002087.4(GRN):c.933+7del
|
rs762910178
|
0.00001
|
NM_002087.4(GRN):c.990G>A (p.Thr330=)
|
rs375066213
|
0.00001
|
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu)
|
rs200646712
|
0.00001
|
NM_003793.4(CTSF):c.213+20G>A
|
rs1046921955
|
0.00001
|
NM_003793.4(CTSF):c.246C>A (p.Ala82=)
|
rs756262196
|
0.00001
|
NM_003793.4(CTSF):c.722-3C>A
|
rs1857927546
|
0.00001
|
NM_006493.2(CLN5):c.24G>A (p.Gly8=)
|
rs751533177
|
0.00001
|
NM_006493.4(CLN5):c.-109T>A
|
rs758802850
|
0.00001
|
NM_006493.4(CLN5):c.-113G>T
|
rs1465531119
|
0.00001
|
NM_006493.4(CLN5):c.-11G>C
|
rs774598730
|
0.00001
|
NM_006493.4(CLN5):c.-74T>C
|
rs1182554801
|
0.00001
|
NM_006493.4(CLN5):c.-86C>T
|
rs988786332
|
0.00001
|
NM_006493.4(CLN5):c.129G>A (p.Arg43=)
|
rs746845935
|
0.00001
|
NM_006493.4(CLN5):c.13G>A (p.Val5Ile)
|
rs1064795659
|
0.00001
|
NM_006493.4(CLN5):c.148C>T (p.Arg50Trp)
|
rs763892391
|
0.00001
|
NM_006493.4(CLN5):c.151C>A (p.Arg51Ser)
|
rs374080049
|
0.00001
|
NM_006493.4(CLN5):c.173+14C>T
|
rs757017201
|
0.00001
|
NM_006493.4(CLN5):c.173+7G>T
|
rs1485751107
|
0.00001
|
NM_006493.4(CLN5):c.177C>T (p.Arg59=)
|
rs1696247688
|
0.00001
|
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly)
|
rs759063887
|
0.00001
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006493.4(CLN5):c.18C>T (p.Asp6=)
|
rs1289582170
|
0.00001
|
NM_006493.4(CLN5):c.207T>C (p.Tyr69=)
|
rs764103764
|
0.00001
|
NM_006493.4(CLN5):c.21G>T (p.Thr7=)
|
rs1057521258
|
0.00001
|
NM_006493.4(CLN5):c.234A>C (p.Pro78=)
|
rs998407254
|
0.00001
|
NM_006493.4(CLN5):c.247A>G (p.Ile83Val)
|
rs750283603
|
0.00001
|
NM_006493.4(CLN5):c.24A>G (p.Ala8=)
|
rs757756318
|
0.00001
|
NM_006493.4(CLN5):c.26A>G (p.Gln9Arg)
|
rs1230755416
|
0.00001
|
NM_006493.4(CLN5):c.296C>T (p.Ala99Val)
|
rs143759121
|
0.00001
|
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser)
|
rs563306322
|
0.00001
|
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala)
|
rs368672718
|
0.00001
|
NM_006493.4(CLN5):c.333A>G (p.Gly111=)
|
rs751611392
|
0.00001
|
NM_006493.4(CLN5):c.339+11A>G
|
rs755999018
|
0.00001
|
NM_006493.4(CLN5):c.342A>G (p.Lys114=)
|
rs770149235
|
0.00001
|
NM_006493.4(CLN5):c.3G>A (p.Met1Ile)
|
rs1464891081
|
0.00001
|
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)
|
rs1593911055
|
0.00001
|
NM_006493.4(CLN5):c.435A>G (p.Thr145=)
|
rs1031492461
|
0.00001
|
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu)
|
rs780802058
|
0.00001
|
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)
|
rs748549252
|
0.00001
|
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg)
|
rs1420822940
|
0.00001
|
NM_006493.4(CLN5):c.528G>A (p.Lys176=)
|
rs776987374
|
0.00001
|
NM_006493.4(CLN5):c.565+15T>G
|
rs751120160
|
0.00001
|
NM_006493.4(CLN5):c.565+20C>T
|
rs780892019
|
0.00001
|
NM_006493.4(CLN5):c.565+6T>C
|
rs758229107
|
0.00001
|
NM_006493.4(CLN5):c.618A>C (p.Gly206=)
|
rs1240633550
|
0.00001
|
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)
|
rs376454715
|
0.00001
|
NM_006493.4(CLN5):c.637A>C (p.Asn213His)
|
rs140122775
|
0.00001
|
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys)
|
rs1312706135
|
0.00001
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
NM_006493.4(CLN5):c.692G>A (p.Cys231Tyr)
|
rs200419110
|
0.00001
|
NM_006493.4(CLN5):c.69C>G (p.Arg23=)
|
rs1270861626
|
0.00001
|
NM_006493.4(CLN5):c.724T>C (p.Leu242=)
|
rs2034342969
|
0.00001
|
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr)
|
rs1439976492
|
0.00001
|
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)
|
rs929479143
|
0.00001
|
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys)
|
rs376675270
|
0.00001
|
NM_006493.4(CLN5):c.784T>C (p.Tyr262His)
|
rs1262072010
|
0.00001
|
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)
|
rs1060502320
|
0.00001
|
NM_006493.4(CLN5):c.925T>C (p.Leu309=)
|
rs1316505069
|
0.00001
|
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
|
rs201767993
|
0.00001
|
NM_006493.4(CLN5):c.93G>A (p.Ala31=)
|
rs971404954
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NM_017882.3(CLN6):c.114C>G (p.Ala38=)
|
rs1219136331
|
0.00001
|
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe)
|
rs964241858
|
0.00001
|
NM_017882.3(CLN6):c.159G>A (p.Leu53=)
|
rs377148534
|
0.00001
|
NM_017882.3(CLN6):c.16A>C (p.Arg6=)
|
rs1468764503
|
0.00001
|
NM_017882.3(CLN6):c.180T>C (p.Phe60=)
|
rs1183583039
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.199-18C>A
|
rs764354435
|
0.00001
|
NM_017882.3(CLN6):c.199-2A>G
|
rs1471253353
|
0.00001
|
NM_017882.3(CLN6):c.199-4G>A
|
rs767945732
|
0.00001
|
NM_017882.3(CLN6):c.199C>G (p.Leu67Val)
|
rs759935979
|
0.00001
|
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)
|
rs1418418672
|
0.00001
|
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys)
|
rs199658226
|
0.00001
|
NM_017882.3(CLN6):c.228C>T (p.Leu76=)
|
rs1306692606
|
0.00001
|
NM_017882.3(CLN6):c.240T>C (p.Ser80=)
|
rs1395492951
|
0.00001
|
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)
|
rs545955828
|
0.00001
|
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu)
|
rs796052350
|
0.00001
|
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)
|
rs146782642
|
0.00001
|
NM_017882.3(CLN6):c.301A>G (p.Ile101Val)
|
rs774238261
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
0.00001
|
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)
|
rs777921628
|
0.00001
|
NM_017882.3(CLN6):c.317G>A (p.Arg106His)
|
rs781133812
|
0.00001
|
NM_017882.3(CLN6):c.318C>T (p.Arg106=)
|
rs2093206613
|
0.00001
|
NM_017882.3(CLN6):c.322C>G (p.Leu108Val)
|
rs796052353
|
0.00001
|
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro)
|
rs1217014085
|
0.00001
|
NM_017882.3(CLN6):c.340T>C (p.Tyr114His)
|
rs1211135399
|
0.00001
|
NM_017882.3(CLN6):c.345G>A (p.Val115=)
|
rs2093206410
|
0.00001
|
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly)
|
rs2093206402
|
0.00001
|
NM_017882.3(CLN6):c.348C>T (p.Ser116=)
|
rs1231500700
|
0.00001
|
NM_017882.3(CLN6):c.355A>G (p.Ile119Val)
|
rs759241838
|
0.00001
|
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile)
|
rs1433821186
|
0.00001
|
NM_017882.3(CLN6):c.396T>C (p.Ser132=)
|
rs949403836
|
0.00001
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
NM_017882.3(CLN6):c.409C>T (p.Leu137=)
|
rs982789458
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017882.3(CLN6):c.487-14C>T
|
rs371794062
|
0.00001
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
0.00001
|
NM_017882.3(CLN6):c.516T>C (p.Tyr172=)
|
rs547002745
|
0.00001
|
NM_017882.3(CLN6):c.51C>G (p.Gly17=)
|
rs944411833
|
0.00001
|
NM_017882.3(CLN6):c.522G>A (p.Glu174=)
|
rs753538013
|
0.00001
|
NM_017882.3(CLN6):c.543-10C>T
|
rs767297743
|
0.00001
|
NM_017882.3(CLN6):c.543-9C>T
|
rs374653673
|
0.00001
|
NM_017882.3(CLN6):c.547A>G (p.Ile183Val)
|
rs766500060
|
0.00001
|
NM_017882.3(CLN6):c.549C>T (p.Ile183=)
|
rs1384262878
|
0.00001
|
NM_017882.3(CLN6):c.558C>T (p.Phe186=)
|
rs1305810285
|
0.00001
|
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile)
|
rs777142645
|
0.00001
|
NM_017882.3(CLN6):c.58C>T (p.Leu20=)
|
rs886042533
|
0.00001
|
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser)
|
rs777459938
|
0.00001
|
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys)
|
rs796052357
|
0.00001
|
NM_017882.3(CLN6):c.60G>A (p.Leu20=)
|
rs1287378775
|
0.00001
|
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser)
|
rs916017530
|
0.00001
|
NM_017882.3(CLN6):c.63C>T (p.Gly21=)
|
rs796052348
|
0.00001
|
NM_017882.3(CLN6):c.663C>T (p.Tyr221=)
|
rs104894486
|
0.00001
|
NM_017882.3(CLN6):c.666-14C>T
|
rs764363598
|
0.00001
|
NM_017882.3(CLN6):c.666-5T>A
|
rs1401270931
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn)
|
rs1469917052
|
0.00001
|
NM_017882.3(CLN6):c.714C>T (p.Phe238=)
|
rs772090270
|
0.00001
|
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr)
|
rs779105796
|
0.00001
|
NM_017882.3(CLN6):c.732C>T (p.Leu244=)
|
rs540227628
|
0.00001
|
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys)
|
rs950362413
|
0.00001
|
NM_017882.3(CLN6):c.750C>T (p.Arg250=)
|
rs537994561
|
0.00001
|
NM_017882.3(CLN6):c.757C>G (p.Leu253Val)
|
rs1274562752
|
0.00001
|
NM_017882.3(CLN6):c.763C>T (p.Leu255=)
|
rs1195840845
|
0.00001
|
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)
|
rs143781303
|
0.00001
|
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)
|
rs760271120
|
0.00001
|
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe)
|
rs771007065
|
0.00001
|
NM_017882.3(CLN6):c.801A>G (p.Ala267=)
|
rs901756486
|
0.00001
|
NM_017882.3(CLN6):c.810C>G (p.Leu270=)
|
rs183399390
|
0.00001
|
NM_017882.3(CLN6):c.83+10C>T
|
rs1247368646
|
0.00001
|
NM_017882.3(CLN6):c.83+13C>T
|
rs938706029
|
0.00001
|
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)
|
rs1555438212
|
0.00001
|
NM_017882.3(CLN6):c.84-1G>A
|
rs1064796787
|
0.00001
|
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser)
|
rs369715206
|
0.00001
|
NM_017882.3(CLN6):c.885C>T (p.Tyr295=)
|
rs374990526
|
0.00001
|
NM_017882.3(CLN6):c.886G>A (p.Val296Ile)
|
rs781449103
|
0.00001
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NM_017882.3(CLN6):c.90C>T (p.Gly30=)
|
rs1254460869
|
0.00001
|
NM_017882.3(CLN6):c.918C>T (p.His306=)
|
rs1347398610
|
0.00001
|
NM_017882.3(CLN6):c.93T>C (p.Ser31=)
|
rs376510900
|
0.00001
|
NM_018941.4(CLN8):c.106T>A (p.Leu36Met)
|
rs1554448978
|
0.00001
|
NM_018941.4(CLN8):c.109G>A (p.Gly37Ser)
|
rs770240445
|
0.00001
|
NM_018941.4(CLN8):c.117T>G (p.Phe39Leu)
|
rs201670636
|
0.00001
|
NM_018941.4(CLN8):c.126C>T (p.Cys42=)
|
rs192196274
|
0.00001
|
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)
|
rs765158624
|
0.00001
|
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)
|
rs777453297
|
0.00001
|
NM_018941.4(CLN8):c.160C>T (p.Arg54Cys)
|
rs769069643
|
0.00001
|
NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr)
|
rs200999640
|
0.00001
|
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)
|
rs536738656
|
0.00001
|
NM_018941.4(CLN8):c.186C>T (p.Val62=)
|
rs1057522154
|
0.00001
|
NM_018941.4(CLN8):c.18T>C (p.Asp6=)
|
rs1464108080
|
0.00001
|
NM_018941.4(CLN8):c.1A>G (p.Met1Val)
|
rs143730802
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.21G>C (p.Gly7=)
|
rs751762914
|
0.00001
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
NM_018941.4(CLN8):c.27A>C (p.Thr9=)
|
rs750274455
|
0.00001
|
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)
|
rs759830733
|
0.00001
|
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)
|
rs750162094
|
0.00001
|
NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)
|
rs1454175058
|
0.00001
|
NM_018941.4(CLN8):c.305G>T (p.Trp102Leu)
|
rs796052365
|
0.00001
|
NM_018941.4(CLN8):c.323C>T (p.Thr108Met)
|
rs143701028
|
0.00001
|
NM_018941.4(CLN8):c.324G>A (p.Thr108=)
|
rs148124161
|
0.00001
|
NM_018941.4(CLN8):c.335G>T (p.Gly112Val)
|
rs1304439072
|
0.00001
|
NM_018941.4(CLN8):c.364C>T (p.His122Tyr)
|
rs746051539
|
0.00001
|
NM_018941.4(CLN8):c.397T>C (p.Leu133=)
|
rs1419342894
|
0.00001
|
NM_018941.4(CLN8):c.406G>T (p.Val136Phe)
|
rs187297173
|
0.00001
|
NM_018941.4(CLN8):c.408T>A (p.Val136=)
|
rs535963507
|
0.00001
|
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser)
|
rs957551479
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.488C>T (p.Thr163Met)
|
rs781099399
|
0.00001
|
NM_018941.4(CLN8):c.543+9A>G
|
rs982453047
|
0.00001
|
NM_018941.4(CLN8):c.555C>T (p.Ser185=)
|
rs145929862
|
0.00001
|
NM_018941.4(CLN8):c.562C>T (p.Leu188=)
|
rs587780318
|
0.00001
|
NM_018941.4(CLN8):c.609C>T (p.Cys203=)
|
rs765382699
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
0.00001
|
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)
|
rs763967636
|
0.00001
|
NM_018941.4(CLN8):c.680A>T (p.Tyr227Phe)
|
rs368561820
|
0.00001
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_018941.4(CLN8):c.716C>T (p.Ala239Val)
|
rs913988013
|
0.00001
|
NM_018941.4(CLN8):c.720G>A (p.Leu240=)
|
rs779630521
|
0.00001
|
NM_018941.4(CLN8):c.741A>G (p.Pro247=)
|
rs1470652667
|
0.00001
|
NM_018941.4(CLN8):c.753T>C (p.His251=)
|
rs1801680845
|
0.00001
|
NM_018941.4(CLN8):c.75C>T (p.Ser25=)
|
rs1276904511
|
0.00001
|
NM_018941.4(CLN8):c.780G>A (p.Pro260=)
|
rs761984333
|
0.00001
|
NM_018941.4(CLN8):c.78G>A (p.Thr26=)
|
rs933753788
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_018941.4(CLN8):c.795C>T (p.Phe265=)
|
rs760610632
|
0.00001
|
NM_018941.4(CLN8):c.804A>C (p.Pro268=)
|
rs746305311
|
0.00001
|
NM_018941.4(CLN8):c.831C>T (p.Asn277=)
|
rs200083273
|
0.00001
|
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg)
|
rs1358513612
|
0.00001
|
NM_018941.4(CLN8):c.843G>A (p.Leu281=)
|
rs367703234
|
0.00001
|
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln)
|
rs766172825
|
0.00001
|
NM_018941.4(CLN8):c.846G>A (p.Arg282=)
|
rs1801686237
|
0.00001
|
NM_018941.4(CLN8):c.849G>A (p.Lys283=)
|
rs753758120
|
0.00001
|
NM_018941.4(CLN8):c.858A>G (p.Pro286=)
|
rs764673534
|
0.00001
|
NM_018941.4(CLN8):c.87C>T (p.Val29=)
|
rs753737213
|
0.00001
|
NM_018941.4(CLN8):c.90T>C (p.Ala30=)
|
rs376382403
|
0.00001
|
NM_018941.4(CLN8):c.9T>C (p.Pro3=)
|
rs773997032
|
0.00001
|
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val)
|
rs756767909
|
0.00001
|
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile)
|
rs1345269003
|
0.00001
|
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala)
|
rs1236275703
|
0.00001
|
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln)
|
rs369738172
|
0.00001
|
NM_022089.4(ATP13A2):c.111C>T (p.Leu37=)
|
rs1331180219
|
0.00001
|
NM_022089.4(ATP13A2):c.1167G>A (p.Pro389=)
|
rs776283025
|
0.00001
|
NM_022089.4(ATP13A2):c.1170C>T (p.His390=)
|
rs201661480
|
0.00001
|
NM_022089.4(ATP13A2):c.1195+18G>C
|
rs750278758
|
0.00001
|
NM_022089.4(ATP13A2):c.1233C>A (p.Ile411=)
|
rs748487085
|
0.00001
|
NM_022089.4(ATP13A2):c.1234T>C (p.Leu412=)
|
rs2077128030
|
0.00001
|
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro)
|
rs778964823
|
0.00001
|
NM_022089.4(ATP13A2):c.1296C>T (p.Leu432=)
|
rs1196631888
|
0.00001
|
NM_022089.4(ATP13A2):c.1307-13G>A
|
rs754572673
|
0.00001
|
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)
|
rs764435162
|
0.00001
|
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=)
|
rs1570823082
|
0.00001
|
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val)
|
rs773341880
|
0.00001
|
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met)
|
rs1326057817
|
0.00001
|
NM_022089.4(ATP13A2):c.1437G>A (p.Val479=)
|
rs367695021
|
0.00001
|
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)
|
rs1303653650
|
0.00001
|
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln)
|
rs560095049
|
0.00001
|
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp)
|
rs753825215
|
0.00001
|
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val)
|
rs372254666
|
0.00001
|
NM_022089.4(ATP13A2):c.1543-15_1543-12del
|
rs753702273
|
0.00001
|
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met)
|
rs984178348
|
0.00001
|
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=)
|
rs777948791
|
0.00001
|
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His)
|
rs1050384310
|
0.00001
|
NM_022089.4(ATP13A2):c.1663C>T (p.Leu555=)
|
rs1208562568
|
0.00001
|
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=)
|
rs1049938065
|
0.00001
|
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser)
|
rs886045581
|
0.00001
|
NM_022089.4(ATP13A2):c.1750-3C>T
|
rs780246274
|
0.00001
|
NM_022089.4(ATP13A2):c.1755G>A (p.Leu585=)
|
rs200184146
|
0.00001
|
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala)
|
rs975811918
|
0.00001
|
NM_022089.4(ATP13A2):c.1845+15G>A
|
rs750975658
|
0.00001
|
NM_022089.4(ATP13A2):c.1845+1G>A
|
rs2076970587
|
0.00001
|
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu)
|
rs746563424
|
0.00001
|
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=)
|
rs1187762774
|
0.00001
|
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe)
|
rs779367060
|
0.00001
|
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=)
|
rs757800272
|
0.00001
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr)
|
rs778267471
|
0.00001
|
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser)
|
rs766354139
|
0.00001
|
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His)
|
rs769622260
|
0.00001
|
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr)
|
rs778404620
|
0.00001
|
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile)
|
rs761490954
|
0.00001
|
NM_022089.4(ATP13A2):c.2013C>T (p.Thr671=)
|
rs1176219513
|
0.00001
|
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly)
|
rs981910553
|
0.00001
|
NM_022089.4(ATP13A2):c.2049T>C (p.Ala683=)
|
rs769153783
|
0.00001
|
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=)
|
rs370622481
|
0.00001
|
NM_022089.4(ATP13A2):c.2083C>T (p.Leu695=)
|
rs757300078
|
0.00001
|
NM_022089.4(ATP13A2):c.208C>T (p.Leu70=)
|
rs757911860
|
0.00001
|
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)
|
rs2076949269
|
0.00001
|
NM_022089.4(ATP13A2):c.2119C>T (p.Leu707=)
|
rs762570626
|
0.00001
|
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=)
|
rs751346349
|
0.00001
|
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp)
|
rs865939676
|
0.00001
|
NM_022089.4(ATP13A2):c.2199G>A (p.Thr733=)
|
rs1269645931
|
0.00001
|
NM_022089.4(ATP13A2):c.219G>A (p.Val73=)
|
rs1469953920
|
0.00001
|
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=)
|
rs754926284
|
0.00001
|
NM_022089.4(ATP13A2):c.2252-11A>G
|
rs775547036
|
0.00001
|
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp)
|
rs751715295
|
0.00001
|
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val)
|
rs1208175914
|
0.00001
|
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe)
|
rs763004392
|
0.00001
|
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr)
|
rs748986186
|
0.00001
|
NM_022089.4(ATP13A2):c.2340C>T (p.His780=)
|
rs769392537
|
0.00001
|
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr)
|
rs151222153
|
0.00001
|
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=)
|
rs772920644
|
0.00001
|
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu)
|
rs774997717
|
0.00001
|
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)
|
rs866035312
|
0.00001
|
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln)
|
rs781298587
|
0.00001
|
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg)
|
rs765064192
|
0.00001
|
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=)
|
rs1460426486
|
0.00001
|
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg)
|
rs917176878
|
0.00001
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe)
|
rs1281682323
|
0.00001
|
NM_022089.4(ATP13A2):c.2609+10C>T
|
rs759204814
|
0.00001
|
NM_022089.4(ATP13A2):c.2628C>T (p.Cys876=)
|
rs561561604
|
0.00001
|
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser)
|
rs771014262
|
0.00001
|
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=)
|
rs554781874
|
0.00001
|
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=)
|
rs764639673
|
0.00001
|
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=)
|
rs765560804
|
0.00001
|
NM_022089.4(ATP13A2):c.2859+5G>C
|
rs1164759435
|
0.00001
|
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile)
|
rs752784549
|
0.00001
|
NM_022089.4(ATP13A2):c.288+16A>T
|
rs1385104135
|
0.00001
|
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile)
|
rs769445714
|
0.00001
|
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=)
|
rs149403933
|
0.00001
|
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His)
|
rs150748722
|
0.00001
|
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=)
|
rs746372968
|
0.00001
|
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met)
|
rs764162255
|
0.00001
|
NM_022089.4(ATP13A2):c.3000C>T (p.Pro1000=)
|
rs1260261642
|
0.00001
|
NM_022089.4(ATP13A2):c.3081A>G (p.Pro1027=)
|
rs374690625
|
0.00001
|
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met)
|
rs750963832
|
0.00001
|
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr)
|
rs1046254851
|
0.00001
|
NM_022089.4(ATP13A2):c.3174C>T (p.Tyr1058=)
|
rs777045615
|
0.00001
|
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe)
|
rs764410859
|
0.00001
|
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val)
|
rs747340052
|
0.00001
|
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg)
|
rs375453342
|
0.00001
|
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys)
|
rs757224113
|
0.00001
|
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr)
|
rs756071133
|
0.00001
|
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His)
|
rs971337693
|
0.00001
|
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp)
|
rs774920921
|
0.00001
|
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp)
|
rs1318096890
|
0.00001
|
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln)
|
rs762570832
|
0.00001
|
NM_022089.4(ATP13A2):c.39C>T (p.Pro13=)
|
rs752127537
|
0.00001
|
NM_022089.4(ATP13A2):c.423C>T (p.Ala141=)
|
rs1258288001
|
0.00001
|
NM_022089.4(ATP13A2):c.429G>A (p.Lys143=)
|
rs1391689725
|
0.00001
|
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=)
|
rs201154350
|
0.00001
|
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly)
|
rs1333931944
|
0.00001
|
NM_022089.4(ATP13A2):c.471C>T (p.Val157=)
|
rs762608323
|
0.00001
|
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val)
|
rs1369312171
|
0.00001
|
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys)
|
rs1323958366
|
0.00001
|
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met)
|
rs773699589
|
0.00001
|
NM_022089.4(ATP13A2):c.635+19C>T
|
rs746266493
|
0.00001
|
NM_022089.4(ATP13A2):c.636-7C>T
|
rs762753391
|
0.00001
|
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=)
|
rs769405638
|
0.00001
|
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr)
|
rs771489150
|
0.00001
|
NM_022089.4(ATP13A2):c.69A>G (p.Thr23=)
|
rs1196381069
|
0.00001
|
NM_022089.4(ATP13A2):c.706-4C>A
|
rs2077315863
|
0.00001
|
NM_022089.4(ATP13A2):c.723T>C (p.Tyr241=)
|
rs1373279122
|
0.00001
|
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His)
|
rs370403918
|
0.00001
|
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=)
|
rs1237741171
|
0.00001
|
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp)
|
rs755969305
|
0.00001
|
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=)
|
rs762440899
|
0.00001
|
NM_025219.3(DNAJC5):c.108G>C (p.Arg36=)
|
rs774703054
|
0.00001
|
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)
|
rs528096976
|
0.00001
|
NM_025219.3(DNAJC5):c.126T>C (p.Tyr42=)
|
rs775734607
|
0.00001
|
NM_025219.3(DNAJC5):c.159C>T (p.Ala53=)
|
rs779503067
|
0.00001
|
NM_025219.3(DNAJC5):c.160G>A (p.Ala54Thr)
|
rs202015608
|
0.00001
|
NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val)
|
rs754887788
|
0.00001
|
NM_025219.3(DNAJC5):c.187G>A (p.Ala63Thr)
|
rs796052411
|
0.00001
|
NM_025219.3(DNAJC5):c.192C>T (p.His64=)
|
rs1351269667
|
0.00001
|
NM_025219.3(DNAJC5):c.203C>T (p.Thr68Met)
|
rs1382120578
|
0.00001
|
NM_025219.3(DNAJC5):c.207C>T (p.Asp69=)
|
rs760881795
|
0.00001
|
NM_025219.3(DNAJC5):c.208G>A (p.Ala70Thr)
|
rs769269113
|
0.00001
|
NM_025219.3(DNAJC5):c.225C>T (p.Ile75=)
|
rs376163421
|
0.00001
|
NM_025219.3(DNAJC5):c.25C>T (p.Leu9=)
|
rs1184661048
|
0.00001
|
NM_025219.3(DNAJC5):c.297C>T (p.Phe99=)
|
rs776598152
|
0.00001
|
NM_025219.3(DNAJC5):c.306C>T (p.Ser102=)
|
rs770247745
|
0.00001
|
NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala)
|
rs796052408
|
0.00001
|
NM_025219.3(DNAJC5):c.321+14G>A
|
rs367766641
|
0.00001
|
NM_025219.3(DNAJC5):c.321+8C>T
|
rs773607766
|
0.00001
|
NM_025219.3(DNAJC5):c.321+9G>A
|
rs763367010
|
0.00001
|
NM_025219.3(DNAJC5):c.322-7C>T
|
rs765086324
|
0.00001
|
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=)
|
rs886043295
|
0.00001
|
NM_025219.3(DNAJC5):c.351G>A (p.Thr117=)
|
rs775067598
|
0.00001
|
NM_025219.3(DNAJC5):c.370T>G (p.Cys124Gly)
|
rs373850027
|
0.00001
|
NM_025219.3(DNAJC5):c.429C>T (p.Gly143=)
|
rs753956759
|
0.00001
|
NM_025219.3(DNAJC5):c.46T>C (p.Leu16=)
|
rs371819808
|
0.00001
|
NM_025219.3(DNAJC5):c.480G>A (p.Gln160=)
|
rs1358914493
|
0.00001
|
NM_025219.3(DNAJC5):c.493+10C>T
|
rs751404516
|
0.00001
|
NM_025219.3(DNAJC5):c.493+11G>A
|
rs760774827
|
0.00001
|
NM_025219.3(DNAJC5):c.494-17G>A
|
rs1433329405
|
0.00001
|
NM_025219.3(DNAJC5):c.494-18T>C
|
rs755327268
|
0.00001
|
NM_025219.3(DNAJC5):c.507G>A (p.Thr169=)
|
rs748875387
|
0.00001
|
NM_025219.3(DNAJC5):c.555A>G (p.Thr185=)
|
rs1437414625
|
0.00001
|
NM_025219.3(DNAJC5):c.55G>A (p.Val19Ile)
|
rs981499477
|
0.00001
|
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=)
|
rs776807695
|
0.00001
|
NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe)
|
rs796052409
|
0.00001
|
NM_025219.3(DNAJC5):c.593A>G (p.Asn198Ser)
|
rs778299599
|
0.00001
|
NM_025219.3(DNAJC5):c.60T>C (p.Leu20=)
|
rs745419250
|
0.00001
|
NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr)
|
rs753722773
|
0.00001
|
NM_025219.3(DNAJC5):c.7G>C (p.Asp3His)
|
rs887921248
|
0.00001
|
NM_025219.3(DNAJC5):c.80C>T (p.Thr27Ile)
|
rs1198430134
|
0.00001
|
NC_000001.10:g.(?_17312716)_(17338233_?)dup
|
|
|
NC_000001.10:g.(?_17316166)_(17332293_?)del
|
|
|
NC_000001.10:g.(?_17316166)_(17338233_?)dup
|
|
|
NC_000001.10:g.(?_17330807)_(17332293_?)del
|
|
|
NC_000001.11:g.(?_16991714)_(16992601_?)del
|
|
|
NC_000002.11:g.(?_219646906)_(219647180_?)del
|
|
|
NC_000002.11:g.(?_219646906)_(219738567_?)del
|
|
|
NC_000002.11:g.(?_219674280)_(219679753_?)del
|
|
|
NC_000002.11:g.(?_219679083)_(219679753_?)del
|
|
|
NC_000002.11:g.(?_219679093)_(219679763_?)del
|
|
|
NC_000002.12:g.(?_218809567)_(218809777_?)del
|
|
|
NC_000002.12:g.218812223dup
|
|
|
NC_000005.10:g.(?_74685241)_(74697126_?)del
|
|
|
NC_000005.10:g.(?_74685251)_(74697116_?)del
|
|
|
NC_000005.10:g.(?_74685261)_(74697106_?)del
|
|
|
NC_000005.9:g.(?_73978914)_(73981242_?)del
|
|
|
NC_000005.9:g.(?_73980960)_(74041702_?)del
|
|
|
NC_000005.9:g.(?_73980960)_(75008762_?)dup
|
|
|
NC_000005.9:g.(?_73981066)_(74017020_?)del
|
|
|
NC_000005.9:g.(?_73981076)_(73981394_?)del
|
|
|
NC_000005.9:g.(?_73985143)_(74014806_?)del
|
|
|
NC_000005.9:g.(?_73992508)_(73992941_?)dup
|
|
|
NC_000005.9:g.(?_74011325)_(74017010_?)del
|
|
|
NC_000008.10:g.(?_1719201)_(1728753_?)dup
|
|
|
NC_000008.10:g.(?_1719221)_(1728733_?)dup
|
|
|
NC_000008.10:g.(?_1719221)_(1905429_?)del
|
|
|
NC_000008.11:g.(?_1771035)_(1780587_?)del
|
|
|
NC_000008.11:g.(?_1771045)_(1780577_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1778806_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1778806_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(1785089_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1785089_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(2019125_?)dup
|
|
|
NC_000011.9:g.(?_1785002)_(1785089_?)del
|
|
|
NC_000011.9:g.(?_532616)_(2906985_?)dup
|
|
|
NC_000011.9:g.(?_5709028)_(6640651_?)dup
|
|
|
NC_000013.10:g.(?_77566087)_(77575104_?)dup
|
|
|
NC_000013.10:g.(?_77566087)_(78492734_?)del
|
|
|
NC_000013.11:g.(?_76991932)_(77000989_?)del
|
|
|
NC_000013.11:g.(?_76991932)_(77000989_?)dup
|
|
|
NC_000013.11:g.(?_76995053)_(76995238_?)dup
|
|
|
NC_000013.11:g.(?_76995053)_(76996137_?)del
|
|
|
NC_000013.11:g.76991960G>A
|
rs1389856811
|
|
NC_000013.11:g.76991966G>A
|
rs949252072
|
|
NC_000013.11:g.76991969C>G
|
rs1439964955
|
|
NC_000013.11:g.76991974G>C
|
rs1037355085
|
|
NC_000013.11:g.76991982T>C
|
rs755587208
|
|
NC_000013.11:g.76991986G>A
|
rs1465531119
|
|
NC_000013.11:g.76991993C>T
|
rs1259746826
|
|
NC_000013.11:g.76992014G>C
|
rs1231942714
|
|
NC_000013.11:g.76992020C>T
|
rs1408667627
|
|
NC_000013.11:g.76992023A>C
|
rs7987664
|
|
NC_000013.11:g.76992025T>A
|
rs1182554801
|
|
NC_000013.11:g.76992026G>T
|
rs2154034204
|
|
NC_000013.11:g.76992027G>C
|
rs2154034205
|
|
NC_000013.11:g.76992029G>C
|
rs2154034206
|
|
NC_000013.11:g.76992036C>T
|
rs2154034208
|
|
NC_000013.11:g.76992041G>A
|
rs2154034210
|
|
NC_000013.11:g.76992041_76992352del
|
rs2154034211
|
|
NC_000013.11:g.76992050A>C
|
rs1447037153
|
|
NC_000013.11:g.76992056G>A
|
rs2154034220
|
|
NC_000013.11:g.76992059G>T
|
rs1413474600
|
|
NC_000013.11:g.76992063G>A
|
rs1351624850
|
|
NC_000013.11:g.76992065C>G
|
rs2154034221
|
|
NC_000013.11:g.76992066T>A
|
rs1223625391
|
|
NC_000013.11:g.76992066T>G
|
rs1223625391
|
|
NC_000013.11:g.76992067C>T
|
rs61504484
|
|
NC_000013.11:g.76992068G>T
|
rs779934262
|
|
NC_000015.10:g.(?_68208120)_(68229604_?)del
|
|
|
NC_000015.10:g.(?_68229482)_(68229604_?)del
|
|
|
NC_000015.10:g.(?_68229492)_(68229594_?)del
|
|
|
NC_000015.10:g.(?_72345446)_(72346710_?)del
|
|
|
NC_000015.10:g.(?_72350508)_(72351244_?)del
|
|
|
NC_000015.10:g.(?_72374460)_(72375992_?)del
|
|
|
NC_000015.9:g.(?_66161924)_(69018313_?)dup
|
|
|
NC_000015.9:g.(?_68499209)_(68500605_?)del
|
|
|
NC_000015.9:g.(?_68500458)_(68504221_?)del
|
|
|
NC_000015.9:g.(?_68500468)_(68504211_?)del
|
|
|
NC_000015.9:g.(?_68500478)_(68521922_?)dup
|
|
|
NC_000015.9:g.(?_72103084)_(74244178_?)del
|
|
|
NC_000015.9:g.(?_72636408)_(72636491_?)del
|
|
|
NC_000015.9:g.(?_72636418)_(73660611_?)dup
|
|
|
NC_000015.9:g.(?_72637535)_(72639061_?)del
|
|
|
NC_000015.9:g.(?_72637767)_(72639071_?)del
|
|
|
NC_000015.9:g.(?_72638556)_(72639071_?)del
|
|
|
NC_000015.9:g.(?_72638867)_(72641658_?)del
|
|
|
NC_000015.9:g.(?_72640007)_(72641620_?)dup
|
|
|
NC_000015.9:g.(?_72640007)_(72643595_?)dup
|
|
|
NC_000015.9:g.(?_72646063)_(72653091_?)del
|
|
|
NC_000015.9:g.(?_72662933)_72670877del
|
|
|
NC_000015.9:g.(?_72666113)_(72666961_?)del
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000016.10:g.(?_28475343)_(28477877_?)dup
|
|
|
NC_000016.10:g.(?_28475343)_(28484138_?)del
|
|
|
NC_000016.10:g.(?_28475343)_(28486650_?)del
|
|
|
NC_000016.10:g.(?_28477496)_(28491779_?)del
|
|
|
NC_000016.10:g.(?_28483996)_(28484128_?)del
|
|
|
NC_000016.10:g.(?_28485965)_(28486930_?)del
|
|
|
NC_000016.10:g.(?_28486327)_(28486670_?)del
|
|
|
NC_000016.10:g.(?_28486347)_(28486650_?)del
|
|
|
NC_000016.10:g.(?_28487456)_(28595930_?)del
|
|
|
NC_000016.9:g.(?_27441393)_(29001333_?)del
|
|
|
NC_000016.9:g.(?_28484798)_28497560del
|
|
|
NC_000016.9:g.(?_28486664)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28486664)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28488817)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488827)_(28489208_?)del
|
|
|
NC_000016.9:g.(?_28488827)_(28950294_?)del
|
|
|
NC_000016.9:g.(?_28488837)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)del
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)dup
|
|
|
NC_000016.9:g.(?_28493416)_(28494003_?)del
|
|
|
NC_000016.9:g.(?_28493426)_(28493993_?)del
|
|
|
NC_000016.9:g.(?_28495307)_(28495459_?)del
|
|
|
NC_000016.9:g.(?_28495317)_(28500717_?)del
|
|
|
NC_000016.9:g.(?_28499892)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28499902)_(28503090_?)dup
|
|
|
NC_000016.9:g.(?_28502803)_(28503080_?)del
|
|
|
NC_000017.10:g.(?_42426434)_(42430018_?)del
|
|
|
NC_000017.11:g.(?_44027807)_(44352876_?)dup
|
|
|
NC_000020.10:g.(?_62542275)_(62559715_?)del
|
|
|
NC_000020.10:g.(?_62559679)_(62562941_?)dup
|
|
|
NC_000020.10:g.(?_62559688)_(62567384_?)dup
|
|
|
NC_000020.11:g.(?_63928326)_(63931588_?)del
|
|
|
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
|
rs1356628460
|
|
NM_000520.6(HEXA):c.-7_1del (p.Met1fs)
|
rs759154405
|
|
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn)
|
|
|
NM_000520.6(HEXA):c.100G>A (p.Asp34Asn)
|
|
|
NM_000520.6(HEXA):c.1014del (p.Phe338fs)
|
|
|
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys)
|
|
|
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)
|
rs1417593132
|
|
NM_000520.6(HEXA):c.1023G>A (p.Lys341=)
|
|
|
NM_000520.6(HEXA):c.1026A>G (p.Lys342=)
|
rs1595798386
|
|
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
|
rs191330716
|
|
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
|
|
|
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)
|
rs745555933
|
|
NM_000520.6(HEXA):c.1042T>G (p.Phe348Val)
|
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
|
|
|
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer)
|
|
|
NM_000520.6(HEXA):c.1058C>T (p.Ser353Phe)
|
rs2140322145
|
|
NM_000520.6(HEXA):c.1059C>T (p.Ser353=)
|
rs1264309804
|
|
NM_000520.6(HEXA):c.1065C>T (p.Tyr355=)
|
rs2140322139
|
|
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)
|
|
|
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
|
rs2089059184
|
|
NM_000520.6(HEXA):c.1073+10G>A
|
rs1458405375
|
|
NM_000520.6(HEXA):c.1073+10G>T
|
|
|
NM_000520.6(HEXA):c.1073+17G>A
|
rs1277432109
|
|
NM_000520.6(HEXA):c.1073+1G>C
|
rs76173977
|
|
NM_000520.6(HEXA):c.1074-12TCTCC[3]
|
rs759219683
|
|
NM_000520.6(HEXA):c.1074-16C>A
|
|
|
NM_000520.6(HEXA):c.1074-16C>T
|
|
|
NM_000520.6(HEXA):c.1074-17A>G
|
|
|
NM_000520.6(HEXA):c.1074-19A>G
|
|
|
NM_000520.6(HEXA):c.1074-20G>A
|
|
|
NM_000520.6(HEXA):c.1074-7T>C
|
rs2140321912
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1074-8C>T
|
rs2140321914
|
|
NM_000520.6(HEXA):c.1074G>C (p.Thr358=)
|
rs1330754060
|
|
NM_000520.6(HEXA):c.107G>C (p.Arg36Pro)
|
|
|
NM_000520.6(HEXA):c.107dup (p.Tyr37fs)
|
|
|
NM_000520.6(HEXA):c.1080G>A (p.Leu360=)
|
rs1344084494
|
|
NM_000520.6(HEXA):c.1086C>A (p.Ile362=)
|
rs749828204
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1087G>T (p.Val363Phe)
|
|
|
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
|
rs2088636561
|
|
NM_000520.6(HEXA):c.1088T>A (p.Val363Asp)
|
|
|
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
|
|
|
NM_000520.6(HEXA):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del)
|
|
|
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs)
|
|
|
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1098T>C (p.Tyr366=)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1099G>A (p.Gly367Ser)
|
rs2140321869
|
|
NM_000520.6(HEXA):c.10_12dup (p.Ser4_Arg5insSer)
|
|
|
NM_000520.6(HEXA):c.1101C>G (p.Gly367=)
|
|
|
NM_000520.6(HEXA):c.1108T>A (p.Tyr370Asn)
|
|
|
NM_000520.6(HEXA):c.1109A>G (p.Tyr370Cys)
|
|
|
NM_000520.6(HEXA):c.110A>G (p.Tyr37Cys)
|
rs2140344677
|
|
NM_000520.6(HEXA):c.1110T>C (p.Tyr370=)
|
rs2140321848
|
|
NM_000520.6(HEXA):c.1114G>A (p.Val372Met)
|
rs759434633
|
|
NM_000520.6(HEXA):c.1114G>T (p.Val372Leu)
|
|
|
NM_000520.6(HEXA):c.1114del (p.Val372fs)
|
rs2140321846
|
|
NM_000520.6(HEXA):c.1122G>A (p.Gln374=)
|
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp)
|
|
|
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)
|
|
|
NM_000520.6(HEXA):c.1137T>C (p.Asn379=)
|
rs2140321800
|
|
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)
|
rs1555472553
|
|
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)
|
|
|
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs)
|
rs1595798033
|
|
NM_000520.6(HEXA):c.1143A>G (p.Val381=)
|
rs781712951
|
|
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr)
|
rs960869164
|
|
NM_000520.6(HEXA):c.1146+11G>A
|
|
|
NM_000520.6(HEXA):c.1146+17A>G
|
rs2140321766
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
NM_000520.6(HEXA):c.1146+7C>G
|
|
|
NM_000520.6(HEXA):c.1146+7C>T
|
rs1445671872
|
|
NM_000520.6(HEXA):c.1146+8G>T
|
|
|
NM_000520.6(HEXA):c.1147-13C>T
|
|
|
NM_000520.6(HEXA):c.1147-14A>G
|
|
|
NM_000520.6(HEXA):c.1147-3C>T
|
|
|
NM_000520.6(HEXA):c.1147-6T>C
|
|
|
NM_000520.6(HEXA):c.1147-7A>G
|
rs1476782915
|
|
NM_000520.6(HEXA):c.1147-8T>G
|
|
|
NM_000520.6(HEXA):c.1147-9_1147-6del
|
rs2140320865
|
|
NM_000520.6(HEXA):c.1152G>C (p.Gln384His)
|
|
|
NM_000520.6(HEXA):c.1154C>T (p.Pro385Leu)
|
|
|
NM_000520.6(HEXA):c.1160C>T (p.Thr387Ile)
|
|
|
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)
|
|
|
NM_000520.6(HEXA):c.1161A>T (p.Thr387=)
|
rs1244956386
|
|
NM_000520.6(HEXA):c.1164C>T (p.Ile388=)
|
|
|
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)
|
|
|
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)
|
|
|
NM_000520.6(HEXA):c.1168C>G (p.Gln390Glu)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1171G>A (p.Val391Met)
|
rs2140320821
|
|
NM_000520.6(HEXA):c.1173G>T (p.Val391=)
|
rs575836910
|
|
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)
|
rs267606862
|
|
NM_000520.6(HEXA):c.117T>G (p.Leu39=)
|
|
|
NM_000520.6(HEXA):c.1182G>A (p.Glu394=)
|
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
NM_000520.6(HEXA):c.1188T>A (p.Ile396=)
|
|
|
NM_000520.6(HEXA):c.1189C>A (p.Pro397Thr)
|
|
|
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)
|
rs778878211
|
|
NM_000520.6(HEXA):c.118del (p.Tyr40fs)
|
rs2140344667
|
|
NM_000520.6(HEXA):c.1191A>G (p.Pro397=)
|
rs2140320794
|
|
NM_000520.6(HEXA):c.1194G>C (p.Val398=)
|
rs2140320785
|
|
NM_000520.6(HEXA):c.1194G>T (p.Val398=)
|
rs2140320785
|
|
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)
|
|
|
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile)
|
rs755973971
|
|
NM_000520.6(HEXA):c.1198T>C (p.Tyr400His)
|
|
|
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del)
|
rs1467732394
|
|
NM_000520.6(HEXA):c.1209G>T (p.Glu403Asp)
|
|
|
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis)
|
rs1177678117
|
|
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser)
|
|
|
NM_000520.6(HEXA):c.1220del (p.Val407fs)
|
rs2140320741
|
|
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg)
|
|
|
NM_000520.6(HEXA):c.1230C>A (p.Ala410=)
|
|
|
NM_000520.6(HEXA):c.1233C>G (p.Gly411=)
|
rs2140320715
|
|
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln)
|
|
|
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro)
|
rs766988109
|
|
NM_000520.6(HEXA):c.1239G>A (p.Arg413=)
|
rs2140320704
|
|
NM_000520.6(HEXA):c.1239G>T (p.Arg413=)
|
rs2140320704
|
|
NM_000520.6(HEXA):c.123G>T (p.Pro41=)
|
rs769075910
|
|
NM_000520.6(HEXA):c.1242C>T (p.Ala414=)
|
|
|
NM_000520.6(HEXA):c.1245T>C (p.Leu415=)
|
|
|
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys)
|
|
|
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs)
|
|
|
NM_000520.6(HEXA):c.1251T>G (p.Ser417=)
|
|
|
NM_000520.6(HEXA):c.1252G>T (p.Ala418Ser)
|
|
|
NM_000520.6(HEXA):c.1253C>A (p.Ala418Asp)
|
|
|
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)
|
|
|
NM_000520.6(HEXA):c.1257C>T (p.Pro419=)
|
rs1595797185
|
|
NM_000520.6(HEXA):c.1257dup (p.Trp420fs)
|
|
|
NM_000520.6(HEXA):c.1258del (p.Trp420fs)
|
rs1216659000
|
|
NM_000520.6(HEXA):c.1263C>T (p.Tyr421=)
|
rs2140320674
|
|
NM_000520.6(HEXA):c.1270C>T (p.Arg424Cys)
|
|
|
NM_000520.6(HEXA):c.1272T>C (p.Arg424=)
|
rs1020151571
|
|
NM_000520.6(HEXA):c.1273A>G (p.Ile425Val)
|
rs2088617363
|
|
NM_000520.6(HEXA):c.1276T>G (p.Ser426Ala)
|
|
|
NM_000520.6(HEXA):c.1277C>T (p.Ser426Phe)
|
rs2140320645
|
|
NM_000520.6(HEXA):c.1278C>T (p.Ser426=)
|
|
|
NM_000520.6(HEXA):c.127A>G (p.Asn43Asp)
|
rs1567308297
|
|
NM_000520.6(HEXA):c.1283G>A (p.Gly428Asp)
|
rs2140320638
|
|
NM_000520.6(HEXA):c.1285C>T (p.Pro429Ser)
|
rs2140320635
|
|
NM_000520.6(HEXA):c.1287T>C (p.Pro429=)
|
rs1159406854
|
|
NM_000520.6(HEXA):c.1288G>A (p.Asp430Asn)
|
|
|
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)
|
|
|
NM_000520.6(HEXA):c.1296G>A (p.Lys432=)
|
|
|
NM_000520.6(HEXA):c.12C>T (p.Ser4=)
|
rs774967373
|
|
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val)
|
|
|
NM_000520.6(HEXA):c.1306A>T (p.Ile436Leu)
|
rs1800431
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1311G>A (p.Val437=)
|
rs2140320599
|
|
NM_000520.6(HEXA):c.1315C>A (p.Pro439Thr)
|
rs2140320594
|
|
NM_000520.6(HEXA):c.1317C>G (p.Pro439=)
|
rs1003506073
|
|
NM_000520.6(HEXA):c.1317C>T (p.Pro439=)
|
rs1003506073
|
|
NM_000520.6(HEXA):c.1321G>A (p.Ala441Thr)
|
rs2140320582
|
|
NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly)
|
rs2140320579
|
|
NM_000520.6(HEXA):c.1330+12G>C
|
|
|
NM_000520.6(HEXA):c.1330+15C>T
|
|
|
NM_000520.6(HEXA):c.1330+19C>T
|
|
|
NM_000520.6(HEXA):c.1330+1G>A
|
rs767041069
|
|
NM_000520.6(HEXA):c.1330+2T>C
|
rs2140320568
|
|
NM_000520.6(HEXA):c.1330+4A>T
|
|
|
NM_000520.6(HEXA):c.1331-13T>C
|
|
|
NM_000520.6(HEXA):c.1331-16G>T
|
|
|
NM_000520.6(HEXA):c.1331-18T>C
|
|
|
NM_000520.6(HEXA):c.1331-19G>C
|
|
|
NM_000520.6(HEXA):c.1331-19G>T
|
|
|
NM_000520.6(HEXA):c.1331-4T>C
|
|
|
NM_000520.6(HEXA):c.1331-5C>G
|
|
|
NM_000520.6(HEXA):c.1331-5C>T
|
|
|
NM_000520.6(HEXA):c.1331-7C>G
|
|
|
NM_000520.6(HEXA):c.1331-7C>T
|
|
|
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
|
|
|
NM_000520.6(HEXA):c.1335C>A (p.Thr445=)
|
|
|
NM_000520.6(HEXA):c.1335C>T (p.Thr445=)
|
rs1365983427
|
|
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser)
|
|
|
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)
|
|
|
NM_000520.6(HEXA):c.1338T>A (p.Pro446=)
|
rs34085965
|
|
NM_000520.6(HEXA):c.1338del (p.Glu447fs)
|
|
|
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
|
|
|
NM_000520.6(HEXA):c.1344G>A (p.Gln448=)
|
rs2140320361
|
|
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg)
|
|
|
NM_000520.6(HEXA):c.1347G>A (p.Lys449=)
|
|
|
NM_000520.6(HEXA):c.1356G>A (p.Val452=)
|
|
|
NM_000520.6(HEXA):c.135A>G (p.Gln45=)
|
|
|
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)
|
rs121907978
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
NM_000520.6(HEXA):c.1362T>C (p.Gly454=)
|
|
|
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
|
|
|
NM_000520.6(HEXA):c.1364del (p.Gly455fs)
|
|
|
NM_000520.6(HEXA):c.1367A>C (p.Glu456Ala)
|
rs1567295650
|
|
NM_000520.6(HEXA):c.1367A>G (p.Glu456Gly)
|
|
|
NM_000520.6(HEXA):c.1368G>A (p.Glu456=)
|
rs2140320322
|
|
NM_000520.6(HEXA):c.1368G>C (p.Glu456Asp)
|
rs2140320322
|
|
NM_000520.6(HEXA):c.136T>C (p.Phe46Leu)
|
rs1287127671
|
|
NM_000520.6(HEXA):c.1371T>A (p.Ala457=)
|
rs2140320317
|
|
NM_000520.6(HEXA):c.1371T>G (p.Ala457=)
|
|
|
NM_000520.6(HEXA):c.1374T>C (p.Cys458=)
|
rs764396757
|
|
NM_000520.6(HEXA):c.1377G>A (p.Met459Ile)
|
|
|
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
|
|
|
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)
|
|
|
NM_000520.6(HEXA):c.1389T>C (p.Tyr463=)
|
rs1239101618
|
|
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala)
|
|
|
NM_000520.6(HEXA):c.13A>C (p.Arg5=)
|
rs1595816387
|
|
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
|
|
|
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile)
|
rs746828145
|
|
NM_000520.6(HEXA):c.1405C>T (p.Leu469=)
|
rs777731446
|
|
NM_000520.6(HEXA):c.1407G>C (p.Leu469=)
|
|
|
NM_000520.6(HEXA):c.1407G>T (p.Leu469=)
|
rs2140320253
|
|
NM_000520.6(HEXA):c.1410C>G (p.Val470=)
|
rs771951380
|
|
NM_000520.6(HEXA):c.1416G>A (p.Arg472=)
|
rs369117208
|
|
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs)
|
rs987921756
|
|
NM_000520.6(HEXA):c.141G>C (p.Gln47His)
|
|
|
NM_000520.6(HEXA):c.1421+12C>G
|
|
|
NM_000520.6(HEXA):c.1421+13G>C
|
rs375201437
|
|
NM_000520.6(HEXA):c.1421+13dup
|
rs780193130
|
|
NM_000520.6(HEXA):c.1421+14G>A
|
rs201497629
|
|
NM_000520.6(HEXA):c.1421+14G>T
|
rs201497629
|
|
NM_000520.6(HEXA):c.1421+15G>A
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+15G>T
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+16G>C
|
|
|
NM_000520.6(HEXA):c.1421+19G>A
|
|
|
NM_000520.6(HEXA):c.1421+19G>C
|
|
|
NM_000520.6(HEXA):c.1421+19G>T
|
|
|
NM_000520.6(HEXA):c.1421+19del
|
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1421+3A>T
|
|
|
NM_000520.6(HEXA):c.1421+6G>C
|
|
|
NM_000520.6(HEXA):c.1421+7G>T
|
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
NM_000520.6(HEXA):c.1421+9T>C
|
rs2140320220
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1422-13C>T
|
rs1366173591
|
|
NM_000520.6(HEXA):c.1422-14C>T
|
|
|
NM_000520.6(HEXA):c.1422-18A>G
|
|
|
NM_000520.6(HEXA):c.1422-1G>T
|
rs1555472296
|
|
NM_000520.6(HEXA):c.1422-2A>G
|
|
|
NM_000520.6(HEXA):c.1422-6C>T
|
|
|
NM_000520.6(HEXA):c.1422-8T>C
|
rs2140319698
|
|
NM_000520.6(HEXA):c.1422-9T>A
|
rs2140319704
|
|
NM_000520.6(HEXA):c.1424C>G (p.Pro475Arg)
|
rs758829206
|
|
NM_000520.6(HEXA):c.1425C>T (p.Pro475=)
|
rs2140319679
|
|
NM_000520.6(HEXA):c.1431A>G (p.Ala477=)
|
rs2140319674
|
|
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
|
|
|
NM_000520.6(HEXA):c.1435del (p.Ala479fs)
|
rs2088601317
|
|
NM_000520.6(HEXA):c.1437T>C (p.Ala479=)
|
rs2140319660
|
|
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)
|
|
|
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter)
|
rs2140344619
|
|
NM_000520.6(HEXA):c.144C>T (p.Tyr48=)
|
rs2140344619
|
|
NM_000520.6(HEXA):c.1452G>A (p.Leu484=)
|
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)
|
rs1057519468
|
|
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter)
|
rs2140319619
|
|
NM_000520.6(HEXA):c.1457G>A (p.Ser486Asn)
|
rs1408716264
|
|
NM_000520.6(HEXA):c.1467G>C (p.Leu489Phe)
|
|
|
NM_000520.6(HEXA):c.1469C>T (p.Thr490Ile)
|
|
|
NM_000520.6(HEXA):c.1470A>G (p.Thr490=)
|
|
|
NM_000520.6(HEXA):c.1473T>G (p.Ser491=)
|
|
|
NM_000520.6(HEXA):c.1474G>C (p.Asp492His)
|
|
|
NM_000520.6(HEXA):c.147T>C (p.Asp49=)
|
|
|
NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg)
|
rs2088600017
|
|
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)
|
|
|
NM_000520.6(HEXA):c.1488C>G (p.Ala496=)
|
|
|
NM_000520.6(HEXA):c.148G>A (p.Val50Ile)
|
|
|
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)
|
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu)
|
|
|
NM_000520.6(HEXA):c.1510del (p.Arg504fs)
|
rs797044433
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
NM_000520.6(HEXA):c.1521G>A (p.Leu507=)
|
|
|
NM_000520.6(HEXA):c.1524G>A (p.Leu508=)
|
rs2140319542
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
NM_000520.6(HEXA):c.1526+13T>C
|
rs1406864261
|
|
NM_000520.6(HEXA):c.1526+14G>A
|
|
|
NM_000520.6(HEXA):c.1526+1G>A
|
|
|
NM_000520.6(HEXA):c.1526+1G>T
|
rs1309204908
|
|
NM_000520.6(HEXA):c.1526+20T>G
|
|
|
NM_000520.6(HEXA):c.1526+7_1526+10del
|
rs1165016914
|
|
NM_000520.6(HEXA):c.1527-10C>T
|
|
|
NM_000520.6(HEXA):c.1527-18C>T
|
|
|
NM_000520.6(HEXA):c.1527-4G>A
|
|
|
NM_000520.6(HEXA):c.1527-4G>C
|
|
|
NM_000520.6(HEXA):c.1527-7C>T
|
rs2088581612
|
|
NM_000520.6(HEXA):c.152G>C (p.Ser51Thr)
|
rs2089058076
|
|
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
|
|
|
NM_000520.6(HEXA):c.1533T>C (p.Gly511=)
|
rs761249905
|
|
NM_000520.6(HEXA):c.1533T>G (p.Gly511=)
|
|
|
NM_000520.6(HEXA):c.1536C>G (p.Val512=)
|
|
|
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
|
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
NM_000520.6(HEXA):c.1554T>C (p.Asn518=)
|
rs749609063
|
|
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
|
|
|
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)
|
rs987036804
|
|
NM_000520.6(HEXA):c.1563C>T (p.Phe521=)
|
|
|
NM_000520.6(HEXA):c.156G>C (p.Ser52=)
|
|
|
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro)
|
rs1432462387
|
|
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
|
|
|
NM_000520.6(HEXA):c.1578T>C (p.Phe526=)
|
rs2140318501
|
|
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr)
|
|
|
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser)
|
rs2140344593
|
|
NM_000520.6(HEXA):c.1587C>T (p.Thr529=)
|
|
|
NM_000520.6(HEXA):c.159C>T (p.Ala53=)
|
rs2140344589
|
|
NM_000520.6(HEXA):c.162G>T (p.Ala54=)
|
|
|
NM_000520.6(HEXA):c.165G>A (p.Gln55=)
|
|
|
NM_000520.6(HEXA):c.167C>G (p.Pro56Arg)
|
|
|
NM_000520.6(HEXA):c.169G>C (p.Gly57Arg)
|
rs2089057551
|
|
NM_000520.6(HEXA):c.16C>A (p.Leu6Ile)
|
rs1167125379
|
|
NM_000520.6(HEXA):c.176C>T (p.Ser59Leu)
|
|
|
NM_000520.6(HEXA):c.178G>T (p.Val60Phe)
|
|
|
NM_000520.6(HEXA):c.179T>C (p.Val60Ala)
|
|
|
NM_000520.6(HEXA):c.17T>G (p.Leu6Arg)
|
|
|
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe)
|
rs1595816175
|
|
NM_000520.6(HEXA):c.183C>G (p.Leu61=)
|
rs2089056934
|
|
NM_000520.6(HEXA):c.183C>T (p.Leu61=)
|
rs2089056934
|
|
NM_000520.6(HEXA):c.186C>T (p.Asp62=)
|
rs765001944
|
|
NM_000520.6(HEXA):c.189G>A (p.Glu63=)
|
rs1401078087
|
|
NM_000520.6(HEXA):c.190G>A (p.Ala64Thr)
|
|
|
NM_000520.6(HEXA):c.195C>T (p.Phe65=)
|
|
|
NM_000520.6(HEXA):c.196del (p.Gln66fs)
|
|
|
NM_000520.6(HEXA):c.19del (p.Trp7fs)
|
|
|
NM_000520.6(HEXA):c.1A>C (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.1A>T (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.200G>A (p.Arg67His)
|
|
|
NM_000520.6(HEXA):c.200G>T (p.Arg67Leu)
|
rs1213459678
|
|
NM_000520.6(HEXA):c.203A>G (p.Tyr68Cys)
|
|
|
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)
|
rs751546658
|
|
NM_000520.6(HEXA):c.211C>T (p.Leu71=)
|
|
|
NM_000520.6(HEXA):c.213G>C (p.Leu71=)
|
rs2140344454
|
|
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)
|
rs1555475468
|
|
NM_000520.6(HEXA):c.219C>T (p.Phe73=)
|
rs2089055709
|
|
NM_000520.6(HEXA):c.222T>G (p.Gly74=)
|
|
|
NM_000520.6(HEXA):c.225C>G (p.Ser75=)
|
|
|
NM_000520.6(HEXA):c.226_242del (p.Gly76fs)
|
rs2140344404
|
|
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)
|
rs2089055615
|
|
NM_000520.6(HEXA):c.228G>C (p.Gly76=)
|
|
|
NM_000520.6(HEXA):c.228G>T (p.Gly76=)
|
|
|
NM_000520.6(HEXA):c.228del (p.Ser77fs)
|
|
|
NM_000520.6(HEXA):c.229T>G (p.Ser77Ala)
|
|
|
NM_000520.6(HEXA):c.230C>T (p.Ser77Phe)
|
rs2089055459
|
|
NM_000520.6(HEXA):c.236C>G (p.Pro79Arg)
|
|
|
NM_000520.6(HEXA):c.237_253+7del
|
rs770628999
|
|
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser)
|
rs1240272655
|
|
NM_000520.6(HEXA):c.248T>C (p.Leu83Pro)
|
rs1477850542
|
|
NM_000520.6(HEXA):c.249C>T (p.Leu83=)
|
rs1416793758
|
|
NM_000520.6(HEXA):c.253+1100_253+1948del
|
|
|
NM_000520.6(HEXA):c.253+14G>A
|
|
|
NM_000520.6(HEXA):c.253+18C>T
|
|
|
NM_000520.6(HEXA):c.253+19G>A
|
|
|
NM_000520.6(HEXA):c.253+19G>C
|
rs370680843
|
|
NM_000520.6(HEXA):c.253+20C>A
|
|
|
NM_000520.6(HEXA):c.253+4A>C
|
rs746118260
|
|
NM_000520.6(HEXA):c.253+5G>A
|
|
|
NM_000520.6(HEXA):c.253+5G>T
|
|
|
NM_000520.6(HEXA):c.253+7C>G
|
|
|
NM_000520.6(HEXA):c.253+7C>T
|
rs996974364
|
|
NM_000520.6(HEXA):c.253+8G>C
|
|
|
NM_000520.6(HEXA):c.253+9G>C
|
rs2089054710
|
|
NM_000520.6(HEXA):c.254-10G>A
|
|
|
NM_000520.6(HEXA):c.254-10G>T
|
|
|
NM_000520.6(HEXA):c.254-12C>G
|
|
|
NM_000520.6(HEXA):c.254-15A>T
|
|
|
NM_000520.6(HEXA):c.254-17T>C
|
rs2140329132
|
|
NM_000520.6(HEXA):c.254-1G>C
|
|
|
NM_000520.6(HEXA):c.254-20A>G
|
|
|
NM_000520.6(HEXA):c.254-2A>G
|
rs2088785868
|
|
NM_000520.6(HEXA):c.254G>A (p.Gly85Glu)
|
|
|
NM_000520.6(HEXA):c.259C>A (p.Arg87=)
|
rs573269641
|
|
NM_000520.6(HEXA):c.25dup (p.Ser9fs)
|
|
|
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu)
|
|
|
NM_000520.6(HEXA):c.261G>A (p.Arg87=)
|
rs1298623340
|
|
NM_000520.6(HEXA):c.267A>G (p.Thr89=)
|
|
|
NM_000520.6(HEXA):c.268C>T (p.Leu90=)
|
rs2140329094
|
|
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)
|
rs769370282
|
|
NM_000520.6(HEXA):c.270G>C (p.Leu90=)
|
|
|
NM_000520.6(HEXA):c.273G>A (p.Glu91=)
|
rs2140329075
|
|
NM_000520.6(HEXA):c.276dup (p.Asn93fs)
|
rs2088785055
|
|
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp)
|
rs2140329070
|
|
NM_000520.6(HEXA):c.27G>T (p.Ser9=)
|
|
|
NM_000520.6(HEXA):c.282G>A (p.Val94=)
|
|
|
NM_000520.6(HEXA):c.285G>C (p.Leu95Phe)
|
|
|
NM_000520.6(HEXA):c.289_290del (p.Val97fs)
|
rs2140329051
|
|
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys)
|
|
|
NM_000520.6(HEXA):c.294T>C (p.Ser98=)
|
|
|
NM_000520.6(HEXA):c.298G>T (p.Val100Phe)
|
rs794727250
|
|
NM_000520.6(HEXA):c.300C>G (p.Val100=)
|
rs2140329021
|
|
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)
|
rs1217876329
|
|
NM_000520.6(HEXA):c.306T>C (p.Pro102=)
|
|
|
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg)
|
|
|
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu)
|
|
|
NM_000520.6(HEXA):c.309A>T (p.Gly103=)
|
rs1595804037
|
|
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer)
|
rs2088783222
|
|
NM_000520.6(HEXA):c.312T>C (p.Cys104=)
|
rs760781092
|
|
NM_000520.6(HEXA):c.31C>T (p.Leu11=)
|
|
|
NM_000520.6(HEXA):c.32del (p.Leu11fs)
|
rs2140344855
|
|
NM_000520.6(HEXA):c.331G>A (p.Glu111Lys)
|
rs2140328962
|
|
NM_000520.6(HEXA):c.332A>G (p.Glu111Gly)
|
rs2140328958
|
|
NM_000520.6(HEXA):c.336A>G (p.Ser112=)
|
|
|
NM_000520.6(HEXA):c.336A>T (p.Ser112=)
|
|
|
NM_000520.6(HEXA):c.33G>A (p.Leu11=)
|
rs2140344852
|
|
NM_000520.6(HEXA):c.346+10A>G
|
rs2140328935
|
|
NM_000520.6(HEXA):c.346+18C>T
|
|
|
NM_000520.6(HEXA):c.346+1G>A
|
rs797044432
|
|
NM_000520.6(HEXA):c.346+1G>T
|
rs797044432
|
|
NM_000520.6(HEXA):c.346+5G>A
|
rs1414011185
|
|
NM_000520.6(HEXA):c.346+8C>T
|
|
|
NM_000520.6(HEXA):c.347-12_347-11del
|
rs2088766986
|
|
NM_000520.6(HEXA):c.347-17C>A
|
|
|
NM_000520.6(HEXA):c.347-17C>T
|
rs761054655
|
|
NM_000520.6(HEXA):c.347-20G>A
|
rs1055316951
|
|
NM_000520.6(HEXA):c.347-7A>G
|
rs1567300313
|
|
NM_000520.6(HEXA):c.34C>G (p.Leu12Val)
|
|
|
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn)
|
|
|
NM_000520.6(HEXA):c.351C>G (p.Thr117=)
|
|
|
NM_000520.6(HEXA):c.358A>G (p.Ile120Val)
|
rs1567300305
|
|
NM_000520.6(HEXA):c.364G>C (p.Asp122His)
|
|
|
NM_000520.6(HEXA):c.366T>C (p.Asp122=)
|
rs1302430521
|
|
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn)
|
|
|
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr)
|
rs768750119
|
|
NM_000520.6(HEXA):c.36G>A (p.Leu12=)
|
|
|
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
|
|
|
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr)
|
|
|
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)
|
rs121907975
|
|
NM_000520.6(HEXA):c.381C>A (p.Leu127=)
|
rs1595803351
|
|
NM_000520.6(HEXA):c.381C>T (p.Leu127=)
|
rs1595803351
|
|
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys)
|
|
|
NM_000520.6(HEXA):c.390G>A (p.Glu130=)
|
rs2140328190
|
|
NM_000520.6(HEXA):c.395T>G (p.Val132Gly)
|
|
|
NM_000520.6(HEXA):c.395_398del (p.Val132fs)
|
rs2140328176
|
|
NM_000520.6(HEXA):c.397del (p.Trp133fs)
|
rs2088765656
|
|
NM_000520.6(HEXA):c.3G>A (p.Met1Ile)
|
rs1595816410
|
|
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)
|
|
|
NM_000520.6(HEXA):c.405T>C (p.Ala135=)
|
rs2140328173
|
|
NM_000520.6(HEXA):c.408C>T (p.Leu136=)
|
rs2088765442
|
|
NM_000520.6(HEXA):c.412+10T>C
|
rs2140328149
|
|
NM_000520.6(HEXA):c.412+14G>T
|
|
|
NM_000520.6(HEXA):c.412+16T>A
|
|
|
NM_000520.6(HEXA):c.412+17G>C
|
|
|
NM_000520.6(HEXA):c.412+18A>T
|
|
|
NM_000520.6(HEXA):c.412+1G>T
|
rs2140328162
|
|
NM_000520.6(HEXA):c.412+5C>A
|
rs2088765141
|
|
NM_000520.6(HEXA):c.412+7A>G
|
rs2088764993
|
|
NM_000520.6(HEXA):c.412+9T>C
|
|
|
NM_000520.6(HEXA):c.413-10A>G
|
rs1361722304
|
|
NM_000520.6(HEXA):c.413-12A>G
|
|
|
NM_000520.6(HEXA):c.413-14C>G
|
rs2140326832
|
|
NM_000520.6(HEXA):c.413-16C>T
|
|
|
NM_000520.6(HEXA):c.413-1G>A
|
|
|
NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
|
NM_000520.6(HEXA):c.413-4C>G
|
rs373382175
|
|
NM_000520.6(HEXA):c.414T>C (p.Gly138=)
|
rs1361295729
|
|
NM_000520.6(HEXA):c.417G>A (p.Leu139=)
|
rs1567299634
|
|
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln)
|
|
|
NM_000520.6(HEXA):c.422del (p.Thr141fs)
|
rs2088733629
|
|
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.42A>G (p.Ala14=)
|
rs2089060994
|
|
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)
|
rs1595802191
|
|
NM_000520.6(HEXA):c.438T>G (p.Val146=)
|
rs2140326788
|
|
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)
|
|
|
NM_000520.6(HEXA):c.442A>G (p.Lys148Glu)
|
rs2140326779
|
|
NM_000520.6(HEXA):c.44C>T (p.Ala15Val)
|
|
|
NM_000520.6(HEXA):c.450T>C (p.Ala150=)
|
rs1195208193
|
|
NM_000520.6(HEXA):c.459+13_459+14del
|
|
|
NM_000520.6(HEXA):c.459+19A>C
|
|
|
NM_000520.6(HEXA):c.459+1G>A
|
rs2140326761
|
|
NM_000520.6(HEXA):c.459+24G>C
|
|
|
NM_000520.6(HEXA):c.459+2dup
|
rs1555473138
|
|
NM_000520.6(HEXA):c.459+9G>T
|
|
|
NM_000520.6(HEXA):c.460-10T>C
|
|
|
NM_000520.6(HEXA):c.460-11G>A
|
|
|
NM_000520.6(HEXA):c.460-15G>A
|
rs2140326434
|
|
NM_000520.6(HEXA):c.460-17A>G
|
|
|
NM_000520.6(HEXA):c.460-17A>T
|
|
|
NM_000520.6(HEXA):c.460-18A>G
|
|
|
NM_000520.6(HEXA):c.460-19C>T
|
rs1680245631
|
|
NM_000520.6(HEXA):c.460-2A>G
|
|
|
NM_000520.6(HEXA):c.462C>A (p.Phe154Leu)
|
rs1272644968
|
|
NM_000520.6(HEXA):c.465del (p.Phe155fs)
|
rs1057516850
|
|
NM_000520.6(HEXA):c.469A>G (p.Asn157Asp)
|
|
|
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu)
|
|
|
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
|
|
|
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
|
rs2088724627
|
|
NM_000520.6(HEXA):c.492T>C (p.Phe164=)
|
rs2088724431
|
|
NM_000520.6(HEXA):c.492del (p.Arg166fs)
|
rs2140326388
|
|
NM_000520.6(HEXA):c.495C>T (p.Pro165=)
|
|
|
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
|
|
|
NM_000520.6(HEXA):c.498C>T (p.Arg166=)
|
|
|
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
|
|
|
NM_000520.6(HEXA):c.4A>G (p.Thr2Ala)
|
|
|
NM_000520.6(HEXA):c.501T>C (p.Phe167=)
|
|
|
NM_000520.6(HEXA):c.505C>G (p.His169Asp)
|
|
|
NM_000520.6(HEXA):c.50C>T (p.Ala17Val)
|
|
|
NM_000520.6(HEXA):c.510G>A (p.Arg170=)
|
rs760406474
|
|
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp)
|
rs2088723709
|
|
NM_000520.6(HEXA):c.516G>A (p.Leu172=)
|
rs1567299356
|
|
NM_000520.6(HEXA):c.519G>A (p.Leu173=)
|
|
|
NM_000520.6(HEXA):c.519G>C (p.Leu173=)
|
rs771696420
|
|
NM_000520.6(HEXA):c.51A>C (p.Ala17=)
|
rs2140344816
|
|
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs)
|
rs2140344825
|
|
NM_000520.6(HEXA):c.521dup (p.Leu174fs)
|
|
|
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
|
|
|
NM_000520.6(HEXA):c.528A>C (p.Thr176=)
|
rs1458388844
|
|
NM_000520.6(HEXA):c.528A>G (p.Thr176=)
|
|
|
NM_000520.6(HEXA):c.538T>C (p.Tyr180His)
|
rs28941771
|
|
NM_000520.6(HEXA):c.540C>T (p.Tyr180=)
|
|
|
NM_000520.6(HEXA):c.541C>T (p.Leu181=)
|
|
|
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro)
|
rs2088722634
|
|
NM_000520.6(HEXA):c.545C>G (p.Pro182Arg)
|
|
|
NM_000520.6(HEXA):c.546dup (p.Leu183fs)
|
rs1595801740
|
|
NM_000520.6(HEXA):c.54A>G (p.Gly18=)
|
|
|
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)
|
rs1555473070
|
|
NM_000520.6(HEXA):c.552T>C (p.Ser184=)
|
rs1387980987
|
|
NM_000520.6(HEXA):c.555C>T (p.Ser185=)
|
|
|
NM_000520.6(HEXA):c.558C>T (p.Ile186=)
|
rs144652159
|
|
NM_000520.6(HEXA):c.559C>T (p.Leu187=)
|
rs1390872805
|
|
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser)
|
|
|
NM_000520.6(HEXA):c.568C>T (p.Leu190=)
|
|
|
NM_000520.6(HEXA):c.568_569del (p.Leu190fs)
|
rs2088721832
|
|
NM_000520.6(HEXA):c.570+10C>A
|
rs1453635996
|
|
NM_000520.6(HEXA):c.570+10C>G
|
rs1453635996
|
|
NM_000520.6(HEXA):c.570+10C>T
|
|
|
NM_000520.6(HEXA):c.570+11C>T
|
|
|
NM_000520.6(HEXA):c.570+16G>A
|
|
|
NM_000520.6(HEXA):c.570+1G>A
|
rs786204754
|
|
NM_000520.6(HEXA):c.570+3A>C
|
|
|
NM_000520.6(HEXA):c.570+7A>C
|
|
|
NM_000520.6(HEXA):c.570+9G>C
|
rs2088721599
|
|
NM_000520.6(HEXA):c.570G>A (p.Leu190=)
|
|
|
NM_000520.6(HEXA):c.571-15C>A
|
rs2140324790
|
|
NM_000520.6(HEXA):c.571-16G>T
|
|
|
NM_000520.6(HEXA):c.571-19T>C
|
|
|
NM_000520.6(HEXA):c.571-4A>G
|
rs2140324768
|
|
NM_000520.6(HEXA):c.571-6C>T
|
|
|
NM_000520.6(HEXA):c.571-7C>T
|
|
|
NM_000520.6(HEXA):c.571-8A>C
|
rs2140324777
|
|
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly)
|
rs2140324755
|
|
NM_000520.6(HEXA):c.576C>T (p.Val192=)
|
|
|
NM_000520.6(HEXA):c.577A>G (p.Met193Val)
|
rs748427632
|
|
NM_000520.6(HEXA):c.57G>C (p.Arg19=)
|
|
|
NM_000520.6(HEXA):c.582G>C (p.Ala194=)
|
rs112614306
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.598G>T (p.Val200Leu)
|
|
|
NM_000520.6(HEXA):c.59C>G (p.Ala20Gly)
|
|
|
NM_000520.6(HEXA):c.59C>T (p.Ala20Val)
|
rs749545037
|
|
NM_000520.6(HEXA):c.603C>T (p.Phe201=)
|
rs767318868
|
|
NM_000520.6(HEXA):c.606C>T (p.His202=)
|
rs2140324709
|
|
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)
|
rs1002712424
|
|
NM_000520.6(HEXA):c.60G>T (p.Ala20=)
|
|
|
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)
|
rs1057517296
|
|
NM_000520.6(HEXA):c.617T>C (p.Val206Ala)
|
rs2140324697
|
|
NM_000520.6(HEXA):c.627T>G (p.Pro209=)
|
|
|
NM_000520.6(HEXA):c.629C>A (p.Ser210Tyr)
|
|
|
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)
|
rs121907961
|
|
NM_000520.6(HEXA):c.62C>T (p.Thr21Met)
|
|
|
NM_000520.6(HEXA):c.631_634del (p.Phe211fs)
|
rs2088690227
|
|
NM_000520.6(HEXA):c.633C>T (p.Phe211=)
|
rs2140324675
|
|
NM_000520.6(HEXA):c.637T>C (p.Tyr213His)
|
rs1057519461
|
|
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
|
|
|
NM_000520.6(HEXA):c.63G>A (p.Thr21=)
|
|
|
NM_000520.6(HEXA):c.63G>T (p.Thr21=)
|
|
|
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp)
|
|
|
NM_000520.6(HEXA):c.651T>G (p.Thr217=)
|
rs773807075
|
|
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln)
|
|
|
NM_000520.6(HEXA):c.65C>T (p.Ala22Val)
|
|
|
NM_000520.6(HEXA):c.660G>A (p.Glu220=)
|
rs2140324649
|
|
NM_000520.6(HEXA):c.663C>G (p.Leu221=)
|
|
|
NM_000520.6(HEXA):c.664A>G (p.Met222Val)
|
rs768751360
|
|
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
|
rs1595800426
|
|
NM_000520.6(HEXA):c.668G>A (p.Arg223Lys)
|
|
|
NM_000520.6(HEXA):c.66C>T (p.Ala22=)
|
rs990896217
|
|
NM_000520.6(HEXA):c.672+11G>T
|
|
|
NM_000520.6(HEXA):c.672+14T>A
|
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.672+1G>T
|
|
|
NM_000520.6(HEXA):c.672+2T>C
|
rs2140324625
|
|
NM_000520.6(HEXA):c.672+3A>T
|
|
|
NM_000520.6(HEXA):c.672+8C>T
|
|
|
NM_000520.6(HEXA):c.672+9C>G
|
rs2140324618
|
|
NM_000520.6(HEXA):c.672G>A (p.Lys224=)
|
|
|
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)
|
rs780134593
|
|
NM_000520.6(HEXA):c.673-11G>A
|
|
|
NM_000520.6(HEXA):c.673-11G>C
|
|
|
NM_000520.6(HEXA):c.673-16G>C
|
|
|
NM_000520.6(HEXA):c.673-4T>C
|
rs1171895864
|
|
NM_000520.6(HEXA):c.673-60_673-17del
|
rs1183071056
|
|
NM_000520.6(HEXA):c.673-7C>T
|
|
|
NM_000520.6(HEXA):c.675G>T (p.Gly225=)
|
|
|
NM_000520.6(HEXA):c.678C>A (p.Ser226=)
|
rs2140324260
|
|
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys)
|
|
|
NM_000520.6(HEXA):c.684C>T (p.Asn228=)
|
rs2140324256
|
|
NM_000520.6(HEXA):c.699C>G (p.Ile233Met)
|
rs2140324240
|
|
NM_000520.6(HEXA):c.69C>A (p.Leu23=)
|
|
|
NM_000520.6(HEXA):c.69C>T (p.Leu23=)
|
rs143554538
|
|
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys)
|
|
|
NM_000520.6(HEXA):c.702C>T (p.Tyr234=)
|
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg)
|
rs2140344766
|
|
NM_000520.6(HEXA):c.720G>A (p.Lys240=)
|
|
|
NM_000520.6(HEXA):c.723G>A (p.Glu241=)
|
rs1435809210
|
|
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys)
|
rs1555475519
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser)
|
rs758166013
|
|
NM_000520.6(HEXA):c.738A>C (p.Ala246=)
|
rs2140324194
|
|
NM_000520.6(HEXA):c.743del (p.Leu248fs)
|
rs2140324174
|
|
NM_000520.6(HEXA):c.744C>T (p.Leu248=)
|
|
|
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)
|
rs1297800753
|
|
NM_000520.6(HEXA):c.747G>C (p.Arg249=)
|
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.749del (p.Gly250fs)
|
|
|
NM_000520.6(HEXA):c.750T>C (p.Gly250=)
|
rs2088681348
|
|
NM_000520.6(HEXA):c.753C>T (p.Ile251=)
|
|
|
NM_000520.6(HEXA):c.757G>T (p.Val253Leu)
|
|
|
NM_000520.6(HEXA):c.75C>G (p.Pro25=)
|
rs2089060038
|
|
NM_000520.6(HEXA):c.75C>T (p.Pro25=)
|
rs2089060038
|
|
NM_000520.6(HEXA):c.762T>C (p.Leu254=)
|
rs1595800026
|
|
NM_000520.6(HEXA):c.764C>T (p.Ala255Val)
|
|
|
NM_000520.6(HEXA):c.765A>G (p.Ala255=)
|
|
|
NM_000520.6(HEXA):c.768G>A (p.Glu256=)
|
rs1218888083
|
|
NM_000520.6(HEXA):c.775A>G (p.Thr259Ala)
|
rs745997044
|
|
NM_000520.6(HEXA):c.785A>G (p.His262Arg)
|
|
|
NM_000520.6(HEXA):c.787A>G (p.Thr263Ala)
|
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)
|
rs121907964
|
|
NM_000520.6(HEXA):c.792G>A (p.Leu264=)
|
rs2140324097
|
|
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)
|
|
|
NM_000520.6(HEXA):c.805+10A>T
|
rs2140324073
|
|
NM_000520.6(HEXA):c.805+12G>T
|
|
|
NM_000520.6(HEXA):c.805+14C>T
|
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
NM_000520.6(HEXA):c.805+8T>C
|
rs2140324076
|
|
NM_000520.6(HEXA):c.805+9G>C
|
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.806-10C>A
|
rs2140323098
|
|
NM_000520.6(HEXA):c.806-11T>C
|
|
|
NM_000520.6(HEXA):c.806-19G>A
|
|
|
NM_000520.6(HEXA):c.806-8T>C
|
rs2140323096
|
|
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)
|
rs2088664194
|
|
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)
|
|
|
NM_000520.6(HEXA):c.810C>T (p.Ile270=)
|
rs2140323086
|
|
NM_000520.6(HEXA):c.813T>G (p.Pro271=)
|
|
|
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
|
|
|
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser)
|
rs2088664026
|
|
NM_000520.6(HEXA):c.820C>T (p.Leu274=)
|
|
|
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala)
|
|
|
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)
|
|
|
NM_000520.6(HEXA):c.828T>G (p.Pro276=)
|
|
|
NM_000520.6(HEXA):c.831C>T (p.Cys277=)
|
|
|
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys)
|
rs772036483
|
|
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)
|
|
|
NM_000520.6(HEXA):c.843T>C (p.Ser281=)
|
rs2140323055
|
|
NM_000520.6(HEXA):c.846G>A (p.Glu282=)
|
rs1362329720
|
|
NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)
|
|
|
NM_000520.6(HEXA):c.849C>A (p.Pro283=)
|
|
|
NM_000520.6(HEXA):c.849C>G (p.Pro283=)
|
rs2140323045
|
|
NM_000520.6(HEXA):c.849C>T (p.Pro283=)
|
rs2140323045
|
|
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)
|
|
|
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile)
|
|
|
NM_000520.6(HEXA):c.858C>T (p.Thr286=)
|
rs748958444
|
|
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
|
|
|
NM_000520.6(HEXA):c.861T>C (p.Phe287=)
|
|
|
NM_000520.6(HEXA):c.889A>G (p.Thr297Ala)
|
|
|
NM_000520.6(HEXA):c.88T>G (p.Phe30Val)
|
rs2140344740
|
|
NM_000520.6(HEXA):c.893A>G (p.Tyr298Cys)
|
rs1396944040
|
|
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)
|
|
|
NM_000520.6(HEXA):c.8G>T (p.Ser3Ile)
|
rs374524755
|
|
NM_000520.6(HEXA):c.900C>T (p.Phe300=)
|
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro)
|
rs759837903
|
|
NM_000520.6(HEXA):c.908C>T (p.Thr303Ile)
|
|
|
NM_000520.6(HEXA):c.909A>G (p.Thr303=)
|
|
|
NM_000520.6(HEXA):c.909A>T (p.Thr303=)
|
rs2088661576
|
|
NM_000520.6(HEXA):c.912C>T (p.Phe304=)
|
rs1385655581
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.913T>C (p.Phe305Leu)
|
|
|
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)
|
rs556872918
|
|
NM_000520.6(HEXA):c.921A>G (p.Glu307=)
|
rs1457483877
|
|
NM_000520.6(HEXA):c.924C>T (p.Val308=)
|
rs2140322950
|
|
NM_000520.6(HEXA):c.926G>A (p.Ser309Asn)
|
rs2088661242
|
|
NM_000520.6(HEXA):c.926G>C (p.Ser309Thr)
|
|
|
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)
|
|
|
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)
|
rs751248523
|
|
NM_000520.6(HEXA):c.930T>C (p.Ser310=)
|
|
|
NM_000520.6(HEXA):c.931_942del (p.Val311_Asp314del)
|
|
|
NM_000520.6(HEXA):c.933C>T (p.Val311=)
|
rs2088661117
|
|
NM_000520.6(HEXA):c.936C>T (p.Phe312=)
|
|
|
NM_000520.6(HEXA):c.938del (p.Pro313fs)
|
rs2140322934
|
|
NM_000520.6(HEXA):c.939A>G (p.Pro313=)
|
|
|
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys)
|
|
|
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)
|
rs1316178162
|
|
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)
|
rs772180415
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)
|
|
|
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
|
|
|
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)
|
|
|
NM_000520.6(HEXA):c.969G>A (p.Glu323=)
|
|
|
NM_000520.6(HEXA):c.96C>G (p.Thr32=)
|
|
|
NM_000520.6(HEXA):c.96C>T (p.Thr32=)
|
rs2140344723
|
|
NM_000520.6(HEXA):c.984C>T (p.Cys328=)
|
|
|
NM_000520.6(HEXA):c.986+10C>A
|
|
|
NM_000520.6(HEXA):c.986+1G>A
|
rs2140322856
|
|
NM_000520.6(HEXA):c.986+1G>C
|
rs2140322856
|
|
NM_000520.6(HEXA):c.986+20C>A
|
|
|
NM_000520.6(HEXA):c.986+6A>T
|
|
|
NM_000520.6(HEXA):c.986+7G>C
|
|
|
NM_000520.6(HEXA):c.986+8C>T
|
rs2140322848
|
|
NM_000520.6(HEXA):c.986+9C>A
|
|
|
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)
|
|
|
NM_000520.6(HEXA):c.987-12C>T
|
|
|
NM_000520.6(HEXA):c.987-19A>T
|
|
|
NM_000520.6(HEXA):c.98C>G (p.Ser33Cys)
|
rs1416996557
|
|
NM_000520.6(HEXA):c.994A>C (p.Asn332His)
|
|
|
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile)
|
rs2140322212
|
|
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
|
|
|
NM_000520.6(HEXA):c.997C>G (p.Pro333Ala)
|
|
|
NM_000520.6(HEXA):c.99C>A (p.Ser33=)
|
rs2140344713
|
|
NM_000520.6(HEXA):c.99C>T (p.Ser33=)
|
|
|
NM_000521.3(HEXB):c.773del
|
rs1373278959
|
|
NM_000521.4(HEXB):c.*82_*83del
|
rs56312827
|
|
NM_000521.4(HEXB):c.1005A>G (p.Thr335=)
|
|
|
NM_000521.4(HEXB):c.1010dup (p.Lys338fs)
|
rs1579952143
|
|
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs)
|
rs2112175206
|
|
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs)
|
rs1749651392
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.1024del (p.Glu342fs)
|
rs2112175228
|
|
NM_000521.4(HEXB):c.1026G>A (p.Glu342=)
|
rs2112175234
|
|
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu)
|
rs774657424
|
|
NM_000521.4(HEXB):c.1029G>A (p.Val343=)
|
rs767987520
|
|
NM_000521.4(HEXB):c.1029G>C (p.Val343=)
|
rs767987520
|
|
NM_000521.4(HEXB):c.102G>T (p.Ala34=)
|
|
|
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
|
|
|
NM_000521.4(HEXB):c.1050T>C (p.His350=)
|
|
|
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
|
|
|
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)
|
rs1749652995
|
|
NM_000521.4(HEXB):c.1062T>C (p.Asp354=)
|
rs1749653155
|
|
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
|
|
|
NM_000521.4(HEXB):c.1082+12C>T
|
|
|
NM_000521.4(HEXB):c.1082+13C>A
|
|
|
NM_000521.4(HEXB):c.1082+20C>G
|
|
|
NM_000521.4(HEXB):c.1082+2T>C
|
rs989299922
|
|
NM_000521.4(HEXB):c.1082+7T>A
|
rs1249872768
|
|
NM_000521.4(HEXB):c.1082+7T>C
|
|
|
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)
|
rs1361998528
|
|
NM_000521.4(HEXB):c.1083-10T>A
|
rs2112176963
|
|
NM_000521.4(HEXB):c.1083-12T>G
|
|
|
NM_000521.4(HEXB):c.1083-15C>A
|
|
|
NM_000521.4(HEXB):c.1083-6C>G
|
|
|
NM_000521.4(HEXB):c.1086A>G (p.Glu362=)
|
rs2112176992
|
|
NM_000521.4(HEXB):c.108G>A (p.Val36=)
|
rs1275258823
|
|
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
|
|
|
NM_000521.4(HEXB):c.1101T>C (p.Ile367=)
|
rs1749677760
|
|
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
|
|
|
NM_000521.4(HEXB):c.1107T>C (p.Asp369=)
|
|
|
NM_000521.4(HEXB):c.1125C>T (p.Gly375=)
|
|
|
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
|
|
|
NM_000521.4(HEXB):c.1134A>G (p.Thr378=)
|
|
|
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter)
|
rs1306678448
|
|
NM_000521.4(HEXB):c.1149A>G (p.Leu383=)
|
rs1336014813
|
|
NM_000521.4(HEXB):c.114G>A (p.Gln38=)
|
|
|
NM_000521.4(HEXB):c.1155T>C (p.Ser385=)
|
|
|
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs)
|
rs1272697701
|
|
NM_000521.4(HEXB):c.1158C>T (p.Phe386=)
|
|
|
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer)
|
rs2112177114
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=)
|
rs2112177152
|
|
NM_000521.4(HEXB):c.1169+18C>T
|
|
|
NM_000521.4(HEXB):c.1169+1G>A
|
|
|
NM_000521.4(HEXB):c.1169+1G>C
|
rs2112177192
|
|
NM_000521.4(HEXB):c.1169+3_1169+10del
|
rs398123444
|
|
NM_000521.4(HEXB):c.1169+5G>C
|
|
|
NM_000521.4(HEXB):c.1169+8G>A
|
|
|
NM_000521.4(HEXB):c.1169+8G>T
|
rs778530133
|
|
NM_000521.4(HEXB):c.1170-10G>A
|
|
|
NM_000521.4(HEXB):c.1170-11T>C
|
|
|
NM_000521.4(HEXB):c.1170-11T>G
|
|
|
NM_000521.4(HEXB):c.1170-11del
|
|
|
NM_000521.4(HEXB):c.1170-11dup
|
|
|
NM_000521.4(HEXB):c.1170-12T>G
|
|
|
NM_000521.4(HEXB):c.1170-16T>A
|
|
|
NM_000521.4(HEXB):c.1170-16T>G
|
|
|
NM_000521.4(HEXB):c.1170-17T>A
|
|
|
NM_000521.4(HEXB):c.1170-18A>C
|
|
|
NM_000521.4(HEXB):c.1170-18A>T
|
|
|
NM_000521.4(HEXB):c.1170-4C>T
|
rs2112179635
|
|
NM_000521.4(HEXB):c.1170-5A>C
|
|
|
NM_000521.4(HEXB):c.1170-6T>C
|
rs2112179633
|
|
NM_000521.4(HEXB):c.1170-9T>A
|
|
|
NM_000521.4(HEXB):c.117G>T (p.Val39=)
|
|
|
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
|
|
|
NM_000521.4(HEXB):c.1191C>T (p.Thr397=)
|
|
|
NM_000521.4(HEXB):c.120G>A (p.Ala40=)
|
|
|
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
|
|
|
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
|
|
|
NM_000521.4(HEXB):c.1242+10G>A
|
|
|
NM_000521.4(HEXB):c.1242+18T>C
|
|
|
NM_000521.4(HEXB):c.1242+3G>A
|
|
|
NM_000521.4(HEXB):c.1242+9dup
|
|
|
NM_000521.4(HEXB):c.1243-15T>C
|
|
|
NM_000521.4(HEXB):c.1243-18A>C
|
|
|
NM_000521.4(HEXB):c.1243-20G>A
|
|
|
NM_000521.4(HEXB):c.1243-9C>A
|
|
|
NM_000521.4(HEXB):c.1243-9C>T
|
rs771008510
|
|
NM_000521.4(HEXB):c.1251G>C (p.Pro417=)
|
|
|
NM_000521.4(HEXB):c.1251G>T (p.Pro417=)
|
rs144264311
|
|
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
|
|
|
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
|
|
|
NM_000521.4(HEXB):c.1263T>G (p.Val421=)
|
rs1454392093
|
|
NM_000521.4(HEXB):c.1264dup (p.Glu422fs)
|
rs2112180571
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
NM_000521.4(HEXB):c.126G>T (p.Ala42=)
|
rs1457481809
|
|
NM_000521.4(HEXB):c.1275A>G (p.Lys425=)
|
rs2112180604
|
|
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
|
|
|
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
|
|
|
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs)
|
rs2112180614
|
|
NM_000521.4(HEXB):c.1284A>G (p.Ala428=)
|
|
|
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
|
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1296A>G (p.Glu432=)
|
rs1456292951
|
|
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs)
|
rs2112180705
|
|
NM_000521.4(HEXB):c.12C>T (p.Cys4=)
|
rs2112122203
|
|
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs)
|
rs2112180739
|
|
NM_000521.4(HEXB):c.1303del (p.Arg435fs)
|
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
|
|
|
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs)
|
rs761240717
|
|
NM_000521.4(HEXB):c.1314A>G (p.Ala438=)
|
|
|
NM_000521.4(HEXB):c.1320C>G (p.Gly440=)
|
rs976848045
|
|
NM_000521.4(HEXB):c.1320C>T (p.Gly440=)
|
|
|
NM_000521.4(HEXB):c.1335T>G (p.Leu445=)
|
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=)
|
|
|
NM_000521.4(HEXB):c.135C>T (p.Ala45=)
|
rs1748837958
|
|
NM_000521.4(HEXB):c.1362T>A (p.Ile454=)
|
rs552896059
|
|
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg)
|
rs2112180879
|
|
NM_000521.4(HEXB):c.1365C>T (p.Ser455=)
|
|
|
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala)
|
rs1392645389
|
|
NM_000521.4(HEXB):c.1377T>C (p.Asp459=)
|
|
|
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)
|
|
|
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)
|
rs1554036943
|
|
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer)
|
rs2112180944
|
|
NM_000521.4(HEXB):c.138G>A (p.Pro46=)
|
rs1378693652
|
|
NM_000521.4(HEXB):c.1398G>A (p.Val466=)
|
|
|
NM_000521.4(HEXB):c.1404del (p.Asp470fs)
|
rs2112180987
|
|
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
|
|
|
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
|
|
|
NM_000521.4(HEXB):c.1417+19C>T
|
|
|
NM_000521.4(HEXB):c.1417+9A>G
|
rs755763718
|
|
NM_000521.4(HEXB):c.1418-11T>C
|
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1418-13G>T
|
|
|
NM_000521.4(HEXB):c.1418-15A>G
|
|
|
NM_000521.4(HEXB):c.1418-15A>T
|
|
|
NM_000521.4(HEXB):c.1418-16A>G
|
|
|
NM_000521.4(HEXB):c.1418-18_1418-14del
|
|
|
NM_000521.4(HEXB):c.1418-21_1418-19del
|
|
|
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs)
|
|
|
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs)
|
|
|
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
|
|
|
NM_000521.4(HEXB):c.1437A>G (p.Gln479=)
|
rs139129900
|
|
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)
|
|
|
NM_000521.4(HEXB):c.1464A>G (p.Leu488=)
|
|
|
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
|
|
|
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
|
|
|
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
|
|
|
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
|
|
|
NM_000521.4(HEXB):c.1473A>G (p.Glu491=)
|
|
|
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs)
|
rs1749803258
|
|
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=)
|
|
|
NM_000521.4(HEXB):c.1479G>A (p.Val493=)
|
|
|
NM_000521.4(HEXB):c.147G>A (p.Ser49=)
|
|
|
NM_000521.4(HEXB):c.147G>C (p.Ser49=)
|
|
|
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
|
|
|
NM_000521.4(HEXB):c.1494C>G (p.Leu498=)
|
rs149960235
|
|
NM_000521.4(HEXB):c.1494C>T (p.Leu498=)
|
rs149960235
|
|
NM_000521.4(HEXB):c.1500A>G (p.Pro500=)
|
rs2112185426
|
|
NM_000521.4(HEXB):c.1508+11T>C
|
|
|
NM_000521.4(HEXB):c.1508+12A>G
|
|
|
NM_000521.4(HEXB):c.1508+15T>C
|
|
|
NM_000521.4(HEXB):c.1508+18T>C
|
|
|
NM_000521.4(HEXB):c.1508+6G>C
|
|
|
NM_000521.4(HEXB):c.1509-10T>C
|
|
|
NM_000521.4(HEXB):c.1509-12T>A
|
|
|
NM_000521.4(HEXB):c.1509-12T>C
|
|
|
NM_000521.4(HEXB):c.1509-15T>C
|
|
|
NM_000521.4(HEXB):c.1509-18G>A
|
|
|
NM_000521.4(HEXB):c.1509-20A>T
|
|
|
NM_000521.4(HEXB):c.1509-21_1509-13del
|
|
|
NM_000521.4(HEXB):c.1509-21del
|
rs747523020
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1509-26G>C
|
rs201580118
|
|
NM_000521.4(HEXB):c.1509-4T>C
|
rs2112185863
|
|
NM_000521.4(HEXB):c.1509-7A>T
|
rs2112185850
|
|
NM_000521.4(HEXB):c.1509-7dup
|
rs1749809709
|
|
NM_000521.4(HEXB):c.1509-8A>T
|
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
NM_000521.4(HEXB):c.1512T>C (p.Pro504=)
|
rs1469774539
|
|
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)
|
rs121907983
|
|
NM_000521.4(HEXB):c.1518A>C (p.Ala506=)
|
|
|
NM_000521.4(HEXB):c.1534A>C (p.Arg512=)
|
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1539C>T (p.Leu513=)
|
rs1258974496
|
|
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)
|
rs1554037129
|
|
NM_000521.4(HEXB):c.1560A>G (p.Arg520=)
|
rs1184573477
|
|
NM_000521.4(HEXB):c.1563T>C (p.Asp521=)
|
rs2112186134
|
|
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs)
|
rs1749812910
|
|
NM_000521.4(HEXB):c.1569T>C (p.Asp523=)
|
|
|
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
|
|
|
NM_000521.4(HEXB):c.1575C>T (p.Ala525=)
|
|
|
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)
|
rs1554037137
|
|
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer)
|
|
|
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter)
|
rs1460801055
|
|
NM_000521.4(HEXB):c.1581C>T (p.Asp527=)
|
|
|
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs)
|
rs2112186316
|
|
NM_000521.4(HEXB):c.1593G>A (p.Arg531=)
|
|
|
NM_000521.4(HEXB):c.159G>A (p.Gly53=)
|
rs1428463982
|
|
NM_000521.4(HEXB):c.15G>T (p.Gly5=)
|
|
|
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
|
|
|
NM_000521.4(HEXB):c.1605G>A (p.Arg535=)
|
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
|
|
|
NM_000521.4(HEXB):c.1611C>T (p.Val537=)
|
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+10del
|
rs2112186585
|
|
NM_000521.4(HEXB):c.1613+11T>G
|
|
|
NM_000521.4(HEXB):c.1613+13_1613+15del
|
|
|
NM_000521.4(HEXB):c.1613+14T>A
|
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.1613+15_1613+16dup
|
|
|
NM_000521.4(HEXB):c.1613+15_1613+19dup
|
|
|
NM_000521.4(HEXB):c.1613+17G>T
|
|
|
NM_000521.4(HEXB):c.1613+19C>G
|
|
|
NM_000521.4(HEXB):c.1613+19C>T
|
|
|
NM_000521.4(HEXB):c.1613+6_1613+21dup
|
rs2112186573
|
|
NM_000521.4(HEXB):c.1613+7_1613+21dup
|
|
|
NM_000521.4(HEXB):c.1613+8A>C
|
|
|
NM_000521.4(HEXB):c.1614-19_1614-18del
|
|
|
NM_000521.4(HEXB):c.1614-6C>T
|
|
|
NM_000521.4(HEXB):c.1614-6_1628dup
|
rs2112188881
|
|
NM_000521.4(HEXB):c.1614-7_1614-1dup
|
rs2112188865
|
|
NM_000521.4(HEXB):c.1614-7dup
|
rs2112188857
|
|
NM_000521.4(HEXB):c.1614-8A>G
|
rs745567727
|
|
NM_000521.4(HEXB):c.1614-9T>C
|
|
|
NM_000521.4(HEXB):c.1617T>A (p.Arg539=)
|
|
|
NM_000521.4(HEXB):c.1626T>C (p.Ala542=)
|
|
|
NM_000521.4(HEXB):c.1629A>G (p.Ala543=)
|
|
|
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys)
|
rs766477016
|
|
NM_000521.4(HEXB):c.1635T>G (p.Pro545=)
|
|
|
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)
|
rs1749847397
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=)
|
rs2112189098
|
|
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer)
|
rs2112189087
|
|
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs)
|
rs1749847524
|
|
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
|
|
|
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)
|
|
|
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)
|
rs727503961
|
|
NM_000521.4(HEXB):c.1653T>C (p.Cys551=)
|
|
|
NM_000521.4(HEXB):c.165G>T (p.Ala55=)
|
|
|
NM_000521.4(HEXB):c.166C>T (p.Leu56=)
|
|
|
NM_000521.4(HEXB):c.1671A>G (p.Ter557=)
|
|
|
NM_000521.4(HEXB):c.16C>T (p.Leu6=)
|
rs1580376985
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.171del (p.Trp57fs)
|
rs771973471
|
|
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro)
|
rs774155487
|
|
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe)
|
|
|
NM_000521.4(HEXB):c.201G>A (p.Pro67=)
|
rs371914695
|
|
NM_000521.4(HEXB):c.201del (p.Asn68fs)
|
|
|
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
|
|
|
NM_000521.4(HEXB):c.219C>A (p.Ala73=)
|
|
|
NM_000521.4(HEXB):c.219C>G (p.Ala73=)
|
rs771754401
|
|
NM_000521.4(HEXB):c.21G>A (p.Gly7=)
|
|
|
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
|
|
|
NM_000521.4(HEXB):c.230_232del (p.Phe77del)
|
rs1554034490
|
|
NM_000521.4(HEXB):c.231C>T (p.Phe77=)
|
|
|
NM_000521.4(HEXB):c.234C>T (p.Tyr78=)
|
|
|
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
|
|
|
NM_000521.4(HEXB):c.240C>T (p.Ser80=)
|
rs2112123022
|
|
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
|
|
|
NM_000521.4(HEXB):c.255C>T (p.Ser85=)
|
|
|
NM_000521.4(HEXB):c.261G>A (p.Ala87=)
|
|
|
NM_000521.4(HEXB):c.264C>A (p.Gly88=)
|
|
|
NM_000521.4(HEXB):c.264C>G (p.Gly88=)
|
|
|
NM_000521.4(HEXB):c.267C>T (p.Pro89=)
|
|
|
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
|
|
|
NM_000521.4(HEXB):c.276C>A (p.Thr92=)
|
rs140509633
|
|
NM_000521.4(HEXB):c.282G>A (p.Leu94=)
|
|
|
NM_000521.4(HEXB):c.283del (p.Glu95fs)
|
rs1748845774
|
|
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
|
|
|
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)
|
rs1007338250
|
|
NM_000521.4(HEXB):c.298del (p.Arg100fs)
|
rs886039499
|
|
NM_000521.4(HEXB):c.299+12C>T
|
|
|
NM_000521.4(HEXB):c.299+14G>A
|
|
|
NM_000521.4(HEXB):c.299+15_299+23del
|
|
|
NM_000521.4(HEXB):c.299+17C>A
|
|
|
NM_000521.4(HEXB):c.299+17C>G
|
|
|
NM_000521.4(HEXB):c.299+18G>T
|
|
|
NM_000521.4(HEXB):c.299+19G>A
|
|
|
NM_000521.4(HEXB):c.300-18C>T
|
|
|
NM_000521.4(HEXB):c.300-1G>A
|
rs967720287
|
|
NM_000521.4(HEXB):c.300-1G>C
|
rs967720287
|
|
NM_000521.4(HEXB):c.300-20T>C
|
|
|
NM_000521.4(HEXB):c.300-4dup
|
|
|
NM_000521.4(HEXB):c.300-6A>G
|
|
|
NM_000521.4(HEXB):c.300-7C>T
|
rs2112129012
|
|
NM_000521.4(HEXB):c.300A>C (p.Arg100=)
|
rs1303786596
|
|
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys)
|
rs1748942839
|
|
NM_000521.4(HEXB):c.303T>C (p.Tyr101=)
|
rs768307371
|
|
NM_000521.4(HEXB):c.306T>C (p.His102=)
|
|
|
NM_000521.4(HEXB):c.321T>A (p.Gly107=)
|
|
|
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)
|
|
|
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)
|
rs1748943719
|
|
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)
|
rs761117459
|
|
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
|
|
|
NM_000521.4(HEXB):c.339T>C (p.His113=)
|
rs1748944024
|
|
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
|
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.345T>C (p.Pro115=)
|
rs1467307393
|
|
NM_000521.4(HEXB):c.378A>G (p.Gln126=)
|
rs2112129226
|
|
NM_000521.4(HEXB):c.381T>C (p.Leu127=)
|
rs2112129230
|
|
NM_000521.4(HEXB):c.387C>G (p.Val129=)
|
|
|
NM_000521.4(HEXB):c.390A>C (p.Ser130=)
|
rs1748945386
|
|
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser)
|
rs1748945643
|
|
NM_000521.4(HEXB):c.408G>A (p.Glu136=)
|
|
|
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
|
|
|
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
|
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.42G>C (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.42G>T (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
|
|
|
NM_000521.4(HEXB):c.441G>A (p.Glu147=)
|
|
|
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
|
|
|
NM_000521.4(HEXB):c.445+11A>G
|
|
|
NM_000521.4(HEXB):c.445+12T>C
|
|
|
NM_000521.4(HEXB):c.445+12T>G
|
|
|
NM_000521.4(HEXB):c.445+14C>T
|
|
|
NM_000521.4(HEXB):c.445+16A>G
|
|
|
NM_000521.4(HEXB):c.445+1G>A
|
rs761197472
|
|
NM_000521.4(HEXB):c.445+1G>C
|
rs761197472
|
|
NM_000521.4(HEXB):c.445+7A>G
|
rs2112129385
|
|
NM_000521.4(HEXB):c.445+8C>T
|
|
|
NM_000521.4(HEXB):c.446-12T>C
|
|
|
NM_000521.4(HEXB):c.446-16dup
|
|
|
NM_000521.4(HEXB):c.446-21_446-14del
|
|
|
NM_000521.4(HEXB):c.446-4A>G
|
|
|
NM_000521.4(HEXB):c.446-6A>T
|
rs763290427
|
|
NM_000521.4(HEXB):c.446-7A>G
|
rs775644956
|
|
NM_000521.4(HEXB):c.450T>A (p.Thr150=)
|
rs2112135859
|
|
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs)
|
rs1749049871
|
|
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)
|
rs2112135868
|
|
NM_000521.4(HEXB):c.477C>T (p.Val159=)
|
|
|
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
|
|
|
NM_000521.4(HEXB):c.495T>C (p.Val165=)
|
|
|
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala)
|
rs951616685
|
|
NM_000521.4(HEXB):c.504A>C (p.Ala168=)
|
rs993517054
|
|
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
|
|
|
NM_000521.4(HEXB):c.511+10A>C
|
rs1172289714
|
|
NM_000521.4(HEXB):c.511+10A>G
|
|
|
NM_000521.4(HEXB):c.511+14A>G
|
|
|
NM_000521.4(HEXB):c.511+16T>G
|
|
|
NM_000521.4(HEXB):c.511+7T>C
|
|
|
NM_000521.4(HEXB):c.512-12T>C
|
|
|
NM_000521.4(HEXB):c.512-18A>G
|
|
|
NM_000521.4(HEXB):c.516A>G (p.Leu172=)
|
|
|
NM_000521.4(HEXB):c.519G>A (p.Glu173=)
|
rs1422448735
|
|
NM_000521.4(HEXB):c.522C>A (p.Thr174=)
|
|
|
NM_000521.4(HEXB):c.52C>T (p.Leu18=)
|
|
|
NM_000521.4(HEXB):c.531G>A (p.Gln177=)
|
rs923395829
|
|
NM_000521.4(HEXB):c.534A>G (p.Leu178=)
|
|
|
NM_000521.4(HEXB):c.534_537del (p.Leu178fs)
|
|
|
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
|
|
|
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
|
|
|
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro)
|
rs1177358563
|
|
NM_000521.4(HEXB):c.552T>C (p.Tyr184=)
|
rs573447174
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.558+10A>G
|
|
|
NM_000521.4(HEXB):c.558+16A>T
|
|
|
NM_000521.4(HEXB):c.558+18_558+19del
|
|
|
NM_000521.4(HEXB):c.558+19T>C
|
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
NM_000521.4(HEXB):c.558+7A>G
|
|
|
NM_000521.4(HEXB):c.558+7A>T
|
rs1252577576
|
|
NM_000521.4(HEXB):c.559-11T>C
|
|
|
NM_000521.4(HEXB):c.559-18A>G
|
|
|
NM_000521.4(HEXB):c.559-18A>T
|
rs374665376
|
|
NM_000521.4(HEXB):c.559-1G>A
|
|
|
NM_000521.4(HEXB):c.559-1G>T
|
rs1311903314
|
|
NM_000521.4(HEXB):c.559-4A>G
|
rs1417706193
|
|
NM_000521.4(HEXB):c.55T>C (p.Leu19=)
|
rs2112122357
|
|
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile)
|
rs1352027066
|
|
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
|
|
|
NM_000521.4(HEXB):c.567C>A (p.Ile189=)
|
rs2112141498
|
|
NM_000521.4(HEXB):c.567C>T (p.Ile189=)
|
rs2112141498
|
|
NM_000521.4(HEXB):c.571_574del (p.Glu191fs)
|
rs1749127843
|
|
NM_000521.4(HEXB):c.582T>C (p.Ile194=)
|
rs2112141535
|
|
NM_000521.4(HEXB):c.591T>C (p.Ser197=)
|
|
|
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
|
|
|
NM_000521.4(HEXB):c.594A>G (p.Pro198=)
|
|
|
NM_000521.4(HEXB):c.597G>A (p.Arg199=)
|
rs1206573829
|
|
NM_000521.4(HEXB):c.60G>A (p.Ala20=)
|
|
|
NM_000521.4(HEXB):c.630C>T (p.Ser210=)
|
|
|
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
|
|
|
NM_000521.4(HEXB):c.63A>G (p.Thr21=)
|
|
|
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
|
|
|
NM_000521.4(HEXB):c.64C>T (p.Leu22=)
|
|
|
NM_000521.4(HEXB):c.64_65del (p.Leu22fs)
|
rs1748834145
|
|
NM_000521.4(HEXB):c.654T>A (p.Ile218=)
|
rs1395527567
|
|
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)
|
rs1749130818
|
|
NM_000521.4(HEXB):c.660T>G (p.Leu220=)
|
rs914649805
|
|
NM_000521.4(HEXB):c.669+10T>C
|
rs2112141738
|
|
NM_000521.4(HEXB):c.669+10T>G
|
rs2112141738
|
|
NM_000521.4(HEXB):c.669+12C>T
|
|
|
NM_000521.4(HEXB):c.669+16A>G
|
|
|
NM_000521.4(HEXB):c.670-10T>C
|
|
|
NM_000521.4(HEXB):c.670-10T>G
|
rs763971063
|
|
NM_000521.4(HEXB):c.670-13T>C
|
|
|
NM_000521.4(HEXB):c.670-14A>T
|
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000521.4(HEXB):c.670-6T>C
|
|
|
NM_000521.4(HEXB):c.670-8G>A
|
rs2112156271
|
|
NM_000521.4(HEXB):c.670-9T>G
|
rs2112156269
|
|
NM_000521.4(HEXB):c.675C>T (p.Ala225=)
|
|
|
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
|
|
|
NM_000521.4(HEXB):c.699T>C (p.Val233=)
|
|
|
NM_000521.4(HEXB):c.69G>A (p.Leu23=)
|
rs1453045657
|
|
NM_000521.4(HEXB):c.705C>G (p.His235Gln)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.705C>T (p.His235=)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
|
|
|
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
|
|
|
NM_000521.4(HEXB):c.711C>T (p.His237=)
|
|
|
NM_000521.4(HEXB):c.729T>C (p.Ser243=)
|
|
|
NM_000521.4(HEXB):c.72G>A (p.Ala24=)
|
|
|
NM_000521.4(HEXB):c.731del (p.Phe244fs)
|
rs2112156393
|
|
NM_000521.4(HEXB):c.735A>T (p.Pro245=)
|
rs758398934
|
|
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
|
|
|
NM_000521.4(HEXB):c.758del (p.Glu253fs)
|
|
|
NM_000521.4(HEXB):c.759G>A (p.Glu253=)
|
|
|
NM_000521.4(HEXB):c.75G>A (p.Ala25=)
|
rs1416490499
|
|
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)
|
rs771103635
|
|
NM_000521.4(HEXB):c.76del (p.Met26fs)
|
rs1580377105
|
|
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
|
|
|
NM_000521.4(HEXB):c.771+10T>C
|
|
|
NM_000521.4(HEXB):c.771+14A>G
|
|
|
NM_000521.4(HEXB):c.771+17G>C
|
|
|
NM_000521.4(HEXB):c.771+20C>G
|
|
|
NM_000521.4(HEXB):c.771+20C>T
|
|
|
NM_000521.4(HEXB):c.771+8A>C
|
|
|
NM_000521.4(HEXB):c.771+9A>G
|
rs768648039
|
|
NM_000521.4(HEXB):c.772-12T>C
|
|
|
NM_000521.4(HEXB):c.772-2A>C
|
|
|
NM_000521.4(HEXB):c.772-5T>C
|
rs2112171612
|
|
NM_000521.4(HEXB):c.772-8T>C
|
rs540508015
|
|
NM_000521.4(HEXB):c.782_785del (p.Ser261fs)
|
rs1312009126
|
|
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)
|
rs886060750
|
|
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
|
|
|
NM_000521.4(HEXB):c.79T>C (p.Leu27=)
|
|
|
NM_000521.4(HEXB):c.7C>T (p.Leu3=)
|
|
|
NM_000521.4(HEXB):c.801A>G (p.Thr267=)
|
|
|
NM_000521.4(HEXB):c.810T>C (p.Asp270=)
|
|
|
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
|
|
|
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
|
|
|
NM_000521.4(HEXB):c.81G>A (p.Leu27=)
|
|
|
NM_000521.4(HEXB):c.822G>C (p.Val274=)
|
|
|
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
|
|
|
NM_000521.4(HEXB):c.828A>G (p.Glu276=)
|
|
|
NM_000521.4(HEXB):c.838T>C (p.Leu280=)
|
rs1057518432
|
|
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
|
|
|
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter)
|
rs1579950499
|
|
NM_000521.4(HEXB):c.843A>G (p.Arg281=)
|
rs2112171867
|
|
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
|
|
|
NM_000521.4(HEXB):c.855C>T (p.Val285=)
|
rs781190762
|
|
NM_000521.4(HEXB):c.858G>A (p.Leu286=)
|
rs2112171900
|
|
NM_000521.4(HEXB):c.858G>T (p.Leu286=)
|
|
|
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
|
|
|
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)
|
rs2112171931
|
|
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
|
|
|
NM_000521.4(HEXB):c.876del (p.His294fs)
|
rs1749604779
|
|
NM_000521.4(HEXB):c.879G>C (p.Gly293=)
|
rs1208134816
|
|
NM_000521.4(HEXB):c.881A>G (p.His294Arg)
|
rs1749605069
|
|
NM_000521.4(HEXB):c.888A>C (p.Leu296=)
|
|
|
NM_000521.4(HEXB):c.892del (p.Trp298fs)
|
|
|
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)
|
|
|
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)
|
|
|
NM_000521.4(HEXB):c.901+11G>T
|
|
|
NM_000521.4(HEXB):c.901+7A>C
|
|
|
NM_000521.4(HEXB):c.901+8G>C
|
|
|
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg)
|
rs2112172036
|
|
NM_000521.4(HEXB):c.902-15A>C
|
|
|
NM_000521.4(HEXB):c.90G>A (p.Leu30=)
|
|
|
NM_000521.4(HEXB):c.916_917del (p.Leu306fs)
|
rs2112174996
|
|
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
|
|
|
NM_000521.4(HEXB):c.924A>C (p.Pro308=)
|
|
|
NM_000521.4(HEXB):c.924A>G (p.Pro308=)
|
rs2112175034
|
|
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
|
|
|
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr)
|
rs1554036641
|
|
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
|
|
|
NM_000521.4(HEXB):c.93T>C (p.Thr31=)
|
rs1748835619
|
|
NM_000521.4(HEXB):c.946T>C (p.Leu316=)
|
|
|
NM_000521.4(HEXB):c.948G>A (p.Leu316=)
|
rs1749649162
|
|
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
|
|
|
NM_000521.4(HEXB):c.972T>C (p.Pro324=)
|
rs1749650159
|
|
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
|
|
|
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile)
|
rs1561226697
|
|
NM_000521.4(HEXB):c.987A>G (p.Thr329=)
|
|
|
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs)
|
rs2112175171
|
|
NM_000521.4(HEXB):c.993C>T (p.Ser331=)
|
rs2112175174
|
|
NM_000521.4(HEXB):c.9G>T (p.Leu3=)
|
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala)
|
rs759622995
|
|
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
|
|
|
NM_000784.4(CYP27A1):c.1017+10G>T
|
|
|
NM_000784.4(CYP27A1):c.1017+11G>C
|
rs766039123
|
|
NM_000784.4(CYP27A1):c.1017+11G>T
|
rs766039123
|
|
NM_000784.4(CYP27A1):c.1017+14G>C
|
rs1196582375
|
|
NM_000784.4(CYP27A1):c.1017+14del
|
rs372792485
|
|
NM_000784.4(CYP27A1):c.1017+15_1017+18del
|
rs1679085939
|
|
NM_000784.4(CYP27A1):c.1017+17G>A
|
rs1431354879
|
|
NM_000784.4(CYP27A1):c.1017+17G>T
|
|
|
NM_000784.4(CYP27A1):c.1017+18G>T
|
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
NM_000784.4(CYP27A1):c.1017+5G>C
|
rs370304209
|
|
NM_000784.4(CYP27A1):c.1018-11C>G
|
|
|
NM_000784.4(CYP27A1):c.1018-16C>T
|
|
|
NM_000784.4(CYP27A1):c.1018-19C>A
|
|
|
NM_000784.4(CYP27A1):c.1018-19C>T
|
|
|
NM_000784.4(CYP27A1):c.1018-1G>C
|
rs1575206658
|
|
NM_000784.4(CYP27A1):c.1018-4C>G
|
|
|
NM_000784.4(CYP27A1):c.1018-4C>T
|
|
|
NM_000784.4(CYP27A1):c.1018-8T>C
|
rs1943753198
|
|
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
|
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)
|
rs771343931
|
|
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=)
|
rs773208703
|
|
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
|
|
|
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
|
|
|
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
|
|
|
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
|
|
|
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=)
|
rs776794344
|
|
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
|
|
|
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro)
|
rs2106479125
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
|
|
|
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
|
|
|
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn)
|
rs2105980881
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
|
|
|
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
|
|
|
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=)
|
rs2105980889
|
|
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys)
|
rs760471205
|
|
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
|
|
|
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro)
|
rs1463950337
|
|
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
|
|
|
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
|
|
|
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg)
|
rs886043798
|
|
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln)
|
rs139426361
|
|
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
|
|
|
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter)
|
rs72551321
|
|
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
|
|
|
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=)
|
rs760334139
|
|
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=)
|
rs1045010358
|
|
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
|
|
|
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=)
|
rs2105980920
|
|
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu)
|
rs2105980922
|
|
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp)
|
rs1559384559
|
|
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
|
|
|
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
|
|
|
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp)
|
rs369969903
|
|
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
|
|
|
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=)
|
rs1943755876
|
|
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=)
|
rs1943755876
|
|
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
|
|
|
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys)
|
rs536176295
|
|
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
|
|
|
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu)
|
rs1943755995
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
|
|
|
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
|
|
|
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
|
|
|
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
|
|
|
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
|
|
|
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
|
|
|
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
|
|
|
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met)
|
rs2105980957
|
|
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
|
|
|
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
|
|
|
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=)
|
rs1421364979
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1184+16G>A
|
|
|
NM_000784.4(CYP27A1):c.1184+16G>C
|
rs1445661658
|
|
NM_000784.4(CYP27A1):c.1184+16G>T
|
rs1445661658
|
|
NM_000784.4(CYP27A1):c.1184+1G>C
|
rs587778777
|
|
NM_000784.4(CYP27A1):c.1184+20T>C
|
|
|
NM_000784.4(CYP27A1):c.1184+3A>G
|
rs1943757633
|
|
NM_000784.4(CYP27A1):c.1184+7C>G
|
rs1575206765
|
|
NM_000784.4(CYP27A1):c.1184+7C>T
|
rs1575206765
|
|
NM_000784.4(CYP27A1):c.1184+9G>A
|
rs200457116
|
|
NM_000784.4(CYP27A1):c.1184+9G>C
|
rs200457116
|
|
NM_000784.4(CYP27A1):c.1185-18A>G
|
|
|
NM_000784.4(CYP27A1):c.1185-19G>A
|
|
|
NM_000784.4(CYP27A1):c.1185-1G>T
|
rs587778779
|
|
NM_000784.4(CYP27A1):c.1185-2A>G
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1185-4G>A
|
rs776459243
|
|
NM_000784.4(CYP27A1):c.1185-4G>T
|
rs776459243
|
|
NM_000784.4(CYP27A1):c.1185-5T>C
|
rs2105981044
|
|
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=)
|
rs1271161678
|
|
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter)
|
rs2105981050
|
|
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
|
|
|
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
|
|
|
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala)
|
rs2105981055
|
|
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
|
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)
|
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
|
|
|
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
|
|
|
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
|
|
|
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
|
|
|
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
|
|
|
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=)
|
rs767002858
|
|
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe)
|
rs1943764288
|
|
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
|
|
|
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
|
|
|
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
|
|
|
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter)
|
rs2105981099
|
|
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=)
|
rs2106479141
|
|
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly)
|
rs2105981100
|
|
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala)
|
rs755343859
|
|
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
|
|
|
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg)
|
rs2106479143
|
|
NM_000784.4(CYP27A1):c.1263+10del
|
rs765426068
|
|
NM_000784.4(CYP27A1):c.1263+14G>C
|
|
|
NM_000784.4(CYP27A1):c.1263+19C>T
|
|
|
NM_000784.4(CYP27A1):c.1263+1G>T
|
|
|
NM_000784.4(CYP27A1):c.1263+5G>A
|
|
|
NM_000784.4(CYP27A1):c.1264-14A>G
|
rs1285698631
|
|
NM_000784.4(CYP27A1):c.1264-1G>A
|
rs587778785
|
|
NM_000784.4(CYP27A1):c.1264-5T>G
|
|
|
NM_000784.4(CYP27A1):c.1264-6T>C
|
rs2105981164
|
|
NM_000784.4(CYP27A1):c.1264-7T>G
|
|
|
NM_000784.4(CYP27A1):c.1264-8C>T
|
rs2105981161
|
|
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=)
|
rs2105981167
|
|
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
|
|
|
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
|
|
|
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
|
|
|
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
|
|
|
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
|
|
|
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
|
|
|
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr)
|
rs749202662
|
|
NM_000784.4(CYP27A1):c.1284C>T (p.His428=)
|
rs1653127444
|
|
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser)
|
rs774127681
|
|
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
|
|
|
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=)
|
rs1943766681
|
|
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
|
|
|
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
|
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
|
|
|
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
|
|
|
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=)
|
rs2105981217
|
|
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
|
|
|
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=)
|
rs2105981221
|
|
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=)
|
rs933195273
|
|
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=)
|
rs933195273
|
|
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
|
|
|
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=)
|
rs760024535
|
|
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter)
|
rs1325218192
|
|
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala)
|
rs753166698
|
|
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
|
|
|
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs)
|
rs2105981231
|
|
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser)
|
rs730882199
|
|
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
|
|
|
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val)
|
rs1039198612
|
|
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=)
|
rs527395716
|
|
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=)
|
rs1177463640
|
|
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
|
|
|
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs)
|
rs751969035
|
|
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
|
|
|
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
|
|
|
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
|
|
|
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)
|
rs771819245
|
|
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys)
|
rs2105981257
|
|
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp)
|
rs777432192
|
|
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val)
|
rs777432192
|
|
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu)
|
rs2105981259
|
|
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
|
|
|
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=)
|
rs770435184
|
|
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
|
|
|
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu)
|
rs200883871
|
|
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
|
|
|
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
|
|
|
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
|
|
|
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
|
|
|
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
|
|
|
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
|
|
|
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=)
|
rs1008075672
|
|
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
|
|
|
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr)
|
rs1372707807
|
|
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser)
|
rs2105981299
|
|
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
|
|
|
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
|
|
|
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
|
|
|
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=)
|
rs2105981315
|
|
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
|
|
|
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)
|
rs150585977
|
|
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr)
|
rs2105981320
|
|
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)
|
rs1943770060
|
|
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
|
|
|
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=)
|
rs1943770169
|
|
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
|
|
|
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
|
|
|
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His)
|
rs2105981325
|
|
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
|
|
|
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=)
|
rs1324313458
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=)
|
|
|
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val)
|
rs1024898619
|
|
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
|
|
|
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
|
|
|
NM_000784.4(CYP27A1):c.1476+10G>A
|
rs1358508044
|
|
NM_000784.4(CYP27A1):c.1476+14G>A
|
|
|
NM_000784.4(CYP27A1):c.1476+15G>C
|
|
|
NM_000784.4(CYP27A1):c.1476+17T>C
|
|
|
NM_000784.4(CYP27A1):c.1476+20T>C
|
rs1575207079
|
|
NM_000784.4(CYP27A1):c.1476+2T>A
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>C
|
rs1165952837
|
|
NM_000784.4(CYP27A1):c.1477-13C>G
|
|
|
NM_000784.4(CYP27A1):c.1477-13C>T
|
|
|
NM_000784.4(CYP27A1):c.1477-16G>T
|
|
|
NM_000784.4(CYP27A1):c.1477-19T>A
|
|
|
NM_000784.4(CYP27A1):c.1477-19T>C
|
|
|
NM_000784.4(CYP27A1):c.1477-20A>G
|
|
|
NM_000784.4(CYP27A1):c.1477-20A>T
|
rs757019811
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.1477-3C>A
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-3C>G
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-3C>T
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-3del
|
rs2105981409
|
|
NM_000784.4(CYP27A1):c.1477-3dup
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>A
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>G
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>T
|
|
|
NM_000784.4(CYP27A1):c.1477-5C>G
|
|
|
NM_000784.4(CYP27A1):c.1477-5C>T
|
rs890298373
|
|
NM_000784.4(CYP27A1):c.1477-6C>A
|
|
|
NM_000784.4(CYP27A1):c.1477-6C>T
|
rs1182127092
|
|
NM_000784.4(CYP27A1):c.1477-7C>A
|
rs2105981410
|
|
NM_000784.4(CYP27A1):c.1477-7C>T
|
|
|
NM_000784.4(CYP27A1):c.1477-8C>A
|
rs1461082000
|
|
NM_000784.4(CYP27A1):c.1477-8C>G
|
|
|
NM_000784.4(CYP27A1):c.1477-9A>G
|
rs2105981405
|
|
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
|
|
|
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
|
|
|
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
|
|
|
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=)
|
rs1943773164
|
|
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp)
|
rs1943396793
|
|
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=)
|
rs1268917075
|
|
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
|
|
|
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu)
|
rs776752717
|
|
NM_000784.4(CYP27A1):c.150C>T (p.Val50=)
|
rs1408697261
|
|
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
|
|
|
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
|
|
|
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs)
|
rs2105981467
|
|
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
|
|
|
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=)
|
rs970661282
|
|
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe)
|
rs970661282
|
|
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
|
|
|
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro)
|
rs1333445399
|
|
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
|
|
|
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
|
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu)
|
rs2105981476
|
|
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=)
|
rs1575207204
|
|
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val)
|
rs1178180058
|
|
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
|
|
|
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
|
|
|
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
|
|
|
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=)
|
rs2105981481
|
|
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
|
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
|
|
|
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
|
|
|
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
|
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
|
|
|
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly)
|
rs757522001
|
|
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
|
|
|
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg)
|
rs911127639
|
|
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly)
|
rs1943775075
|
|
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=)
|
rs1481894464
|
|
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=)
|
rs1943396825
|
|
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=)
|
rs2106479159
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
|
|
|
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
|
|
|
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
|
|
|
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
|
|
|
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
|
|
|
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
|
|
|
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
|
|
|
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro)
|
rs1191317525
|
|
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys)
|
rs1943400890
|
|
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
|
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu)
|
rs2106479175
|
|
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
|
|
|
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
|
|
|
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=)
|
rs1289665937
|
|
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=)
|
rs1289665937
|
|
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
|
|
|
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
|
|
|
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
|
|
|
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
|
|
|
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
|
|
|
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
|
|
|
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly)
|
rs867496731
|
|
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=)
|
rs1387640811
|
|
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=)
|
rs1295302612
|
|
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
|
|
|
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
|
|
|
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu)
|
rs2106479200
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
|
|
|
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter)
|
rs1333458369
|
|
NM_000784.4(CYP27A1):c.255+10G>A
|
|
|
NM_000784.4(CYP27A1):c.255+14G>A
|
|
|
NM_000784.4(CYP27A1):c.255+14G>T
|
rs767761739
|
|
NM_000784.4(CYP27A1):c.255+15C>T
|
|
|
NM_000784.4(CYP27A1):c.255+20C>A
|
rs1943402023
|
|
NM_000784.4(CYP27A1):c.255+7C>G
|
|
|
NM_000784.4(CYP27A1):c.255+7del
|
|
|
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
|
|
|
NM_000784.4(CYP27A1):c.256-10A>G
|
rs2105978797
|
|
NM_000784.4(CYP27A1):c.256-16T>G
|
|
|
NM_000784.4(CYP27A1):c.256-17T>G
|
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.256-20G>A
|
|
|
NM_000784.4(CYP27A1):c.256-2A>G
|
rs1559391390
|
|
NM_000784.4(CYP27A1):c.256-5C>T
|
rs768029983
|
|
NM_000784.4(CYP27A1):c.256-6C>T
|
|
|
NM_000784.4(CYP27A1):c.256-9A>C
|
|
|
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
|
|
|
NM_000784.4(CYP27A1):c.258G>A (p.Val86=)
|
rs2105978806
|
|
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe)
|
rs1170171291
|
|
NM_000784.4(CYP27A1):c.25C>T (p.Leu9=)
|
rs2106479038
|
|
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
|
|
|
NM_000784.4(CYP27A1):c.279T>C (p.Gly93=)
|
rs773872361
|
|
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
|
rs1943689766
|
|
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
|
|
|
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
|
|
|
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=)
|
rs2105978833
|
|
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
|
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln)
|
rs753981913
|
|
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met)
|
rs374769409
|
|
NM_000784.4(CYP27A1):c.321C>T (p.Asn107=)
|
rs755282568
|
|
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=)
|
rs2105978849
|
|
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
|
|
|
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly)
|
rs1441761338
|
|
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg)
|
rs531504325
|
|
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
|
|
|
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
|
|
|
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=)
|
rs919883150
|
|
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
|
|
|
NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
|
|
|
NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
|
|
|
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
|
|
|
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
|
|
|
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
|
rs1943690848
|
|
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
|
|
|
NM_000784.4(CYP27A1):c.369G>A (p.Lys123=)
|
rs2105978882
|
|
NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
|
|
|
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
|
|
|
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
|
|
|
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
|
|
|
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
|
|
|
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
|
|
|
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
|
|
|
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
|
|
|
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
|
rs911534514
|
|
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=)
|
rs1237307385
|
|
NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)
|
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.39G>A (p.Leu13=)
|
rs2106479059
|
|
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
|
|
|
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
|
|
|
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=)
|
rs1275203092
|
|
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
|
|
|
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
|
|
|
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln)
|
rs139415581
|
|
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
|
|
|
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=)
|
rs1943692779
|
|
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
|
|
|
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
|
|
|
NM_000784.4(CYP27A1):c.426del (p.Thr143fs)
|
rs2105978931
|
|
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
|
|
|
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
|
|
|
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)
|
rs587778795
|
|
NM_000784.4(CYP27A1):c.435G>A (p.Gly145=)
|
|
|
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
|
|
|
NM_000784.4(CYP27A1):c.440_446+2del
|
rs2105978950
|
|
NM_000784.4(CYP27A1):c.444C>T (p.Thr148=)
|
rs2105978956
|
|
NM_000784.4(CYP27A1):c.446+10G>A
|
rs200400166
|
|
NM_000784.4(CYP27A1):c.446+18G>A
|
|
|
NM_000784.4(CYP27A1):c.446+1G>T
|
rs587778797
|
|
NM_000784.4(CYP27A1):c.446+8G>A
|
rs950113577
|
|
NM_000784.4(CYP27A1):c.446+9G>T
|
|
|
NM_000784.4(CYP27A1):c.447-12G>T
|
|
|
NM_000784.4(CYP27A1):c.447-13T>G
|
|
|
NM_000784.4(CYP27A1):c.447-15T>C
|
|
|
NM_000784.4(CYP27A1):c.447-1G>A
|
rs2105979879
|
|
NM_000784.4(CYP27A1):c.447-3C>A
|
|
|
NM_000784.4(CYP27A1):c.447-4G>T
|
rs2105979874
|
|
NM_000784.4(CYP27A1):c.447-8C>A
|
|
|
NM_000784.4(CYP27A1):c.447-8C>G
|
|
|
NM_000784.4(CYP27A1):c.447-9T>A
|
|
|
NM_000784.4(CYP27A1):c.447-9T>C
|
|
|
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=)
|
rs749515902
|
|
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=)
|
rs2105979882
|
|
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro)
|
rs768932304
|
|
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
|
|
|
NM_000784.4(CYP27A1):c.456C>T (p.His152=)
|
rs1943723875
|
|
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
|
|
|
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs)
|
rs1413976755
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
|
|
|
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=)
|
rs553140875
|
|
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs)
|
rs1413976755
|
|
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro)
|
rs1270373689
|
|
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
|
|
|
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr)
|
rs2105979908
|
|
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val)
|
rs759338714
|
|
NM_000784.4(CYP27A1):c.48C>A (p.Ala16=)
|
rs2106479063
|
|
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=)
|
rs2106479063
|
|
NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)
|
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.492G>T (p.Arg164=)
|
rs2105979919
|
|
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
|
|
|
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs)
|
rs1559392331
|
|
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
|
|
|
NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
|
|
|
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
|
|
|
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=)
|
rs200506778
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
|
|
|
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val)
|
rs773103625
|
|
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
|
|
|
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys)
|
rs1943725580
|
|
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=)
|
rs1238433654
|
|
NM_000784.4(CYP27A1):c.543G>T (p.Val181=)
|
rs2105979971
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
|
|
|
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
|
|
|
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
|
|
|
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
|
|
|
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
|
|
|
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
|
|
|
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=)
|
rs2105979989
|
|
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
|
|
|
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala)
|
rs1203579586
|
|
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
|
|
|
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
|
|
|
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
|
|
|
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
|
|
|
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
|
|
|
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
|
|
|
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg)
|
rs2105980019
|
|
NM_000784.4(CYP27A1):c.597G>A (p.Gly199=)
|
rs2105980020
|
|
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=)
|
rs2105980020
|
|
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)
|
rs587778802
|
|
NM_000784.4(CYP27A1):c.606G>A (p.Val202=)
|
rs1451997056
|
|
NM_000784.4(CYP27A1):c.606G>T (p.Val202=)
|
rs1451997056
|
|
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
|
|
|
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
|
|
|
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=)
|
rs2105980041
|
|
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
|
|
|
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
|
|
|
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=)
|
rs781222632
|
|
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser)
|
rs2105980045
|
|
NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
|
|
|
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter)
|
rs761663976
|
|
NM_000784.4(CYP27A1):c.646+10C>T
|
|
|
NM_000784.4(CYP27A1):c.646+11T>C
|
|
|
NM_000784.4(CYP27A1):c.646+13G>T
|
|
|
NM_000784.4(CYP27A1):c.646+19G>A
|
|
|
NM_000784.4(CYP27A1):c.646+1G>A
|
|
|
NM_000784.4(CYP27A1):c.646+8T>C
|
|
|
NM_000784.4(CYP27A1):c.646+8del
|
rs1943728243
|
|
NM_000784.4(CYP27A1):c.646+9G>C
|
rs760140162
|
|
NM_000784.4(CYP27A1):c.647-10C>T
|
|
|
NM_000784.4(CYP27A1):c.647-16T>G
|
|
|
NM_000784.4(CYP27A1):c.647-17C>A
|
|
|
NM_000784.4(CYP27A1):c.647-17C>T
|
rs774331706
|
|
NM_000784.4(CYP27A1):c.647-18C>A
|
|
|
NM_000784.4(CYP27A1):c.647-18C>T
|
|
|
NM_000784.4(CYP27A1):c.647-19G>A
|
|
|
NM_000784.4(CYP27A1):c.647-1G>A
|
|
|
NM_000784.4(CYP27A1):c.647-3C>A
|
rs1943729710
|
|
NM_000784.4(CYP27A1):c.647-7T>C
|
|
|
NM_000784.4(CYP27A1):c.647-9A>G
|
|
|
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu)
|
rs886042256
|
|
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
|
|
|
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=)
|
rs1414259537
|
|
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn)
|
rs1559392536
|
|
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=)
|
rs1400244740
|
|
NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
|
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln)
|
rs760323157
|
|
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
|
|
|
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=)
|
rs2105980119
|
|
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=)
|
rs1423345815
|
|
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=)
|
rs1423345815
|
|
NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
|
|
|
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
|
|
|
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
|
|
|
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
|
|
|
NM_000784.4(CYP27A1):c.67dup (p.His23fs)
|
rs1559384522
|
|
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg)
|
rs1553616268
|
|
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=)
|
rs1180200717
|
|
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
|
|
|
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
|
|
|
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)
|
rs1187804477
|
|
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
|
|
|
NM_000784.4(CYP27A1):c.69_82del (p.His23fs)
|
rs1943398587
|
|
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr)
|
rs2105980154
|
|
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
|
rs1943733556
|
|
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
|
|
|
NM_000784.4(CYP27A1):c.702del (p.Glu235fs)
|
rs2105980153
|
|
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn)
|
rs144068826
|
|
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
|
|
|
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
|
|
|
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
|
|
|
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile)
|
rs369660141
|
|
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
|
|
|
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=)
|
rs770631614
|
|
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=)
|
rs770631614
|
|
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
|
|
|
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
|
|
|
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
|
|
|
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
|
|
|
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
|
|
|
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)
|
rs1559392634
|
|
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=)
|
rs1559392636
|
|
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
|
|
|
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=)
|
rs2105980208
|
|
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
|
|
|
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=)
|
rs1431924945
|
|
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=)
|
rs1431924945
|
|
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs)
|
rs2105980214
|
|
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys)
|
rs2105980216
|
|
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe)
|
rs763461546
|
|
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
|
|
|
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His)
|
rs757682669
|
|
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu)
|
rs757682669
|
|
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
|
|
|
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
|
|
|
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
|
|
|
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=)
|
rs1575206137
|
|
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
|
|
|
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=)
|
rs2105980247
|
|
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg)
|
rs535323883
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)
|
rs1943736101
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter)
|
rs532134925
|
|
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=)
|
rs532134925
|
|
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
|
|
|
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
|
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala)
|
rs1167915356
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys)
|
rs774999308
|
|
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
|
|
|
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
|
|
|
NM_000784.4(CYP27A1):c.844+10C>T
|
|
|
NM_000784.4(CYP27A1):c.844+13A>T
|
|
|
NM_000784.4(CYP27A1):c.844+14G>C
|
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
NM_000784.4(CYP27A1):c.844+1G>T
|
|
|
NM_000784.4(CYP27A1):c.844+4A>G
|
rs1016174396
|
|
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
|
|
|
NM_000784.4(CYP27A1):c.844+6G>A
|
rs1943737223
|
|
NM_000784.4(CYP27A1):c.844+9T>G
|
|
|
NM_000784.4(CYP27A1):c.845-10G>A
|
|
|
NM_000784.4(CYP27A1):c.845-12T>C
|
|
|
NM_000784.4(CYP27A1):c.845-13G>A
|
rs1398037639
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
NM_000784.4(CYP27A1):c.845-6T>C
|
rs2105980379
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
|
|
|
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
|
|
|
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
|
|
|
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=)
|
rs2105980390
|
|
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
|
|
|
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=)
|
rs762359911
|
|
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys)
|
rs2105980394
|
|
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
|
|
|
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe)
|
rs2105980402
|
|
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
|
|
|
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=)
|
rs202136743
|
|
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
|
|
|
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu)
|
rs1412455358
|
|
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=)
|
rs1310841339
|
|
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
|
|
|
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val)
|
rs1417655712
|
|
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=)
|
rs2105980427
|
|
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
|
|
|
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
|
|
|
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=)
|
rs1316018823
|
|
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
|
|
|
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
|
|
|
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
|
|
|
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe)
|
rs2105980439
|
|
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
|
|
|
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
|
|
|
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
|
|
|
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro)
|
rs1275856308
|
|
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
|
|
|
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
|
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=)
|
rs1943741154
|
|
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys)
|
rs2105980462
|
|
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=)
|
rs2105980465
|
|
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
|
|
|
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
|
|
|
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr)
|
rs1275043449
|
|
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=)
|
rs1400093675
|
|
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
|
|
|
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=)
|
rs2105980473
|
|
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
|
|
|
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser)
|
rs1399829248
|
|
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
|
|
|
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
|
|
|
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=)
|
rs967210940
|
|
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
|
|
|
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=)
|
rs971599666
|
|
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
|
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro)
|
rs1567257016
|
|
NM_001042432.2(CLN3):c.1017C>T (p.Cys339=)
|
rs768479701
|
|
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr)
|
rs1174122334
|
|
NM_001042432.2(CLN3):c.101A>T (p.His34Leu)
|
|
|
NM_001042432.2(CLN3):c.1023C>T (p.Arg341=)
|
rs2141702659
|
|
NM_001042432.2(CLN3):c.1032C>T (p.Phe344=)
|
|
|
NM_001042432.2(CLN3):c.1035C>T (p.Thr345=)
|
rs2141702596
|
|
NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro)
|
|
|
NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val)
|
rs2141702560
|
|
NM_001042432.2(CLN3):c.1048C>T (p.Leu350=)
|
rs1319505147
|
|
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
|
rs386833696
|
|
NM_001042432.2(CLN3):c.1050G>C (p.Leu350=)
|
|
|
NM_001042432.2(CLN3):c.1050_1056+19del
|
|
|
NM_001042432.2(CLN3):c.1056+10C>G
|
rs2141702486
|
|
NM_001042432.2(CLN3):c.1056+12C>G
|
|
|
NM_001042432.2(CLN3):c.1056+16C>A
|
|
|
NM_001042432.2(CLN3):c.1056+16C>T
|
|
|
NM_001042432.2(CLN3):c.1056+18C>T
|
|
|
NM_001042432.2(CLN3):c.1056+1G>A
|
|
|
NM_001042432.2(CLN3):c.1056+1G>T
|
rs1217725909
|
|
NM_001042432.2(CLN3):c.1056+20C>T
|
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.1056+5C>A
|
|
|
NM_001042432.2(CLN3):c.1056+6A>G
|
rs2141702501
|
|
NM_001042432.2(CLN3):c.1056G>T (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.1057-11C>A
|
|
|
NM_001042432.2(CLN3):c.1057-11C>G
|
rs189498501
|
|
NM_001042432.2(CLN3):c.1057-11C>T
|
rs189498501
|
|
NM_001042432.2(CLN3):c.1057-12C>T
|
|
|
NM_001042432.2(CLN3):c.1057-14C>A
|
rs773692029
|
|
NM_001042432.2(CLN3):c.1057-14C>G
|
|
|
NM_001042432.2(CLN3):c.1057-14C>T
|
|
|
NM_001042432.2(CLN3):c.1057-17T>A
|
|
|
NM_001042432.2(CLN3):c.1057-18C>A
|
rs554430803
|
|
NM_001042432.2(CLN3):c.1057-18C>T
|
rs554430803
|
|
NM_001042432.2(CLN3):c.1057-19C>T
|
|
|
NM_001042432.2(CLN3):c.1057-1G>A
|
|
|
NM_001042432.2(CLN3):c.1057-2A>G
|
rs1218568487
|
|
NM_001042432.2(CLN3):c.1057-5C>G
|
|
|
NM_001042432.2(CLN3):c.1057-9del
|
rs1288269632
|
|
NM_001042432.2(CLN3):c.1058G>A (p.Cys353Tyr)
|
|
|
NM_001042432.2(CLN3):c.1058G>T (p.Cys353Phe)
|
|
|
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)
|
rs1057516677
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
NM_001042432.2(CLN3):c.105del (p.His34_Trp35insTer)
|
rs2141721909
|
|
NM_001042432.2(CLN3):c.1065C>T (p.Asn355=)
|
rs1567254120
|
|
NM_001042432.2(CLN3):c.1069G>T (p.Val357Leu)
|
rs1567254103
|
|
NM_001042432.2(CLN3):c.1071G>A (p.Val357=)
|
|
|
NM_001042432.2(CLN3):c.1071G>T (p.Val357=)
|
rs146467602
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)
|
rs2046022965
|
|
NM_001042432.2(CLN3):c.1086C>T (p.Asp362=)
|
rs376907245
|
|
NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly)
|
|
|
NM_001042432.2(CLN3):c.1089G>T (p.Val363=)
|
rs2141694310
|
|
NM_001042432.2(CLN3):c.1096G>A (p.Gly366Ser)
|
rs772209464
|
|
NM_001042432.2(CLN3):c.1097G>T (p.Gly366Val)
|
rs371214018
|
|
NM_001042432.2(CLN3):c.1099T>C (p.Phe367Leu)
|
|
|
NM_001042432.2(CLN3):c.1107A>C (p.Pro369=)
|
rs2141694275
|
|
NM_001042432.2(CLN3):c.1107A>G (p.Pro369=)
|
|
|
NM_001042432.2(CLN3):c.1108A>G (p.Ser370Gly)
|
rs2141694271
|
|
NM_001042432.2(CLN3):c.1110C>T (p.Ser370=)
|
|
|
NM_001042432.2(CLN3):c.1113C>T (p.Ile371=)
|
rs2141694259
|
|
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
|
|
|
NM_001042432.2(CLN3):c.1117C>T (p.Leu373Phe)
|
|
|
NM_001042432.2(CLN3):c.111C>G (p.Asn37Lys)
|
|
|
NM_001042432.2(CLN3):c.1121T>C (p.Val374Ala)
|
rs1596619733
|
|
NM_001042432.2(CLN3):c.1122C>T (p.Val374=)
|
|
|
NM_001042432.2(CLN3):c.1125C>T (p.Phe375=)
|
|
|
NM_001042432.2(CLN3):c.1126C>T (p.Leu376=)
|
rs2141694207
|
|
NM_001042432.2(CLN3):c.1128G>A (p.Leu376=)
|
|
|
NM_001042432.2(CLN3):c.1128G>T (p.Leu376=)
|
|
|
NM_001042432.2(CLN3):c.1137G>C (p.Leu379=)
|
|
|
NM_001042432.2(CLN3):c.1138T>C (p.Tyr380His)
|
|
|
NM_001042432.2(CLN3):c.1143G>A (p.Glu381=)
|
|
|
NM_001042432.2(CLN3):c.1146G>T (p.Gly382=)
|
rs1567253962
|
|
NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe)
|
|
|
NM_001042432.2(CLN3):c.1149C>T (p.Leu383=)
|
rs2046021695
|
|
NM_001042432.2(CLN3):c.114G>A (p.Ala38=)
|
rs1596567632
|
|
NM_001042432.2(CLN3):c.1150C>T (p.Leu384=)
|
rs1057521416
|
|
NM_001042432.2(CLN3):c.1152G>A (p.Leu384=)
|
|
|
NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val)
|
rs2141694140
|
|
NM_001042432.2(CLN3):c.1161A>G (p.Ala387=)
|
rs2141694138
|
|
NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr)
|
|
|
NM_001042432.2(CLN3):c.1164C>A (p.Ala388=)
|
rs772463617
|
|
NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe)
|
|
|
NM_001042432.2(CLN3):c.1173C>T (p.Asn391=)
|
rs1334200732
|
|
NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr)
|
rs2141694088
|
|
NM_001042432.2(CLN3):c.117G>A (p.Val39=)
|
rs2141721859
|
|
NM_001042432.2(CLN3):c.1181A>G (p.His394Arg)
|
|
|
NM_001042432.2(CLN3):c.1183A>G (p.Asn395Asp)
|
rs2141694073
|
|
NM_001042432.2(CLN3):c.1184A>T (p.Asn395Ile)
|
rs2046020900
|
|
NM_001042432.2(CLN3):c.1185C>T (p.Asn395=)
|
rs747968377
|
|
NM_001042432.2(CLN3):c.1189G>A (p.Ala397Thr)
|
|
|
NM_001042432.2(CLN3):c.1192C>T (p.Leu398=)
|
|
|
NM_001042432.2(CLN3):c.1194G>A (p.Leu398=)
|
|
|
NM_001042432.2(CLN3):c.1197+10G>A
|
rs2141693994
|
|
NM_001042432.2(CLN3):c.1197+11G>T
|
|
|
NM_001042432.2(CLN3):c.1197+13C>A
|
rs370103287
|
|
NM_001042432.2(CLN3):c.1197+13C>G
|
rs370103287
|
|
NM_001042432.2(CLN3):c.1197+15G>T
|
|
|
NM_001042432.2(CLN3):c.1197+16G>A
|
|
|
NM_001042432.2(CLN3):c.1197+17C>G
|
rs2046020001
|
|
NM_001042432.2(CLN3):c.1197+18A>G
|
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.1197+8T>C
|
rs587780895
|
|
NM_001042432.2(CLN3):c.1198-10G>A
|
rs750043205
|
|
NM_001042432.2(CLN3):c.1198-10G>T
|
rs750043205
|
|
NM_001042432.2(CLN3):c.1198-16C>G
|
|
|
NM_001042432.2(CLN3):c.1198-17G>A
|
rs749612121
|
|
NM_001042432.2(CLN3):c.1198-19C>G
|
|
|
NM_001042432.2(CLN3):c.1198-19C>T
|
|
|
NM_001042432.2(CLN3):c.1198-2A>C
|
rs2141693746
|
|
NM_001042432.2(CLN3):c.1198-3C>T
|
rs2046017696
|
|
NM_001042432.2(CLN3):c.1198-4C>G
|
|
|
NM_001042432.2(CLN3):c.1198-7C>T
|
rs1046047290
|
|
NM_001042432.2(CLN3):c.1198-8C>A
|
|
|
NM_001042432.2(CLN3):c.1198-9C>T
|
rs2141693767
|
|
NM_001042432.2(CLN3):c.1200C>A (p.Thr400=)
|
rs754270222
|
|
NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)
|
|
|
NM_001042432.2(CLN3):c.120C>G (p.Gly40=)
|
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.1215G>C (p.Arg405=)
|
rs2141693673
|
|
NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)
|
|
|
NM_001042432.2(CLN3):c.1236C>T (p.Thr412=)
|
|
|
NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs)
|
|
|
NM_001042432.2(CLN3):c.125+13A>C
|
rs2141721778
|
|
NM_001042432.2(CLN3):c.125+16C>T
|
rs2141721774
|
|
NM_001042432.2(CLN3):c.125+19C>A
|
|
|
NM_001042432.2(CLN3):c.125+1G>C
|
rs775616181
|
|
NM_001042432.2(CLN3):c.125+9C>A
|
|
|
NM_001042432.2(CLN3):c.125+9C>G
|
rs770630584
|
|
NM_001042432.2(CLN3):c.126-11G>A
|
|
|
NM_001042432.2(CLN3):c.126-11G>C
|
|
|
NM_001042432.2(CLN3):c.126-14C>T
|
|
|
NM_001042432.2(CLN3):c.126-16G>A
|
|
|
NM_001042432.2(CLN3):c.126-18C>T
|
|
|
NM_001042432.2(CLN3):c.126-4C>A
|
rs1555469191
|
|
NM_001042432.2(CLN3):c.126-9T>C
|
|
|
NM_001042432.2(CLN3):c.1263C>T (p.Ser421=)
|
rs2141693533
|
|
NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro)
|
rs2046014482
|
|
NM_001042432.2(CLN3):c.1266G>A (p.Leu422=)
|
|
|
NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)
|
|
|
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
|
|
|
NM_001042432.2(CLN3):c.1272G>A (p.Gly424=)
|
rs2141693473
|
|
NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val)
|
rs1596619187
|
|
NM_001042432.2(CLN3):c.127C>T (p.Leu43=)
|
rs2141718228
|
|
NM_001042432.2(CLN3):c.1284G>A (p.Leu428=)
|
rs1178380195
|
|
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)
|
rs1433950864
|
|
NM_001042432.2(CLN3):c.1288C>T (p.Leu430=)
|
rs2141693434
|
|
NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr)
|
rs759510380
|
|
NM_001042432.2(CLN3):c.1293T>C (p.His431=)
|
|
|
NM_001042432.2(CLN3):c.1302C>A (p.Leu434=)
|
rs1264449890
|
|
NM_001042432.2(CLN3):c.1316G>A (p.Ter439=)
|
rs2046012606
|
|
NM_001042432.2(CLN3):c.136C>G (p.Leu46Val)
|
|
|
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer)
|
rs1064795153
|
|
NM_001042432.2(CLN3):c.143A>G (p.Asn48Ser)
|
|
|
NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)
|
|
|
NM_001042432.2(CLN3):c.145A>C (p.Asn49His)
|
|
|
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys)
|
rs571216643
|
|
NM_001042432.2(CLN3):c.156T>C (p.Tyr52=)
|
rs758454511
|
|
NM_001042432.2(CLN3):c.159G>A (p.Val53=)
|
rs2046275556
|
|
NM_001042432.2(CLN3):c.15A>T (p.Ala5=)
|
rs2141722763
|
|
NM_001042432.2(CLN3):c.162G>A (p.Val54=)
|
|
|
NM_001042432.2(CLN3):c.162G>T (p.Val54=)
|
|
|
NM_001042432.2(CLN3):c.166C>T (p.Leu56=)
|
|
|
NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn)
|
|
|
NM_001042432.2(CLN3):c.177C>T (p.Ala59=)
|
rs1266595846
|
|
NM_001042432.2(CLN3):c.18C>A (p.Gly6=)
|
rs2141722748
|
|
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
|
|
|
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn)
|
rs2046274351
|
|
NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln)
|
|
|
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)
|
rs386833708
|
|
NM_001042432.2(CLN3):c.204A>G (p.Thr68=)
|
rs1001999703
|
|
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)
|
rs769840061
|
|
NM_001042432.2(CLN3):c.213C>T (p.Asn71=)
|
rs1460944418
|
|
NM_001042432.2(CLN3):c.214_216del (p.Gln72del)
|
rs1473036975
|
|
NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn)
|
|
|
NM_001042432.2(CLN3):c.21G>C (p.Ser7=)
|
rs1313480778
|
|
NM_001042432.2(CLN3):c.222+11C>G
|
|
|
NM_001042432.2(CLN3):c.222+13C>T
|
|
|
NM_001042432.2(CLN3):c.222+14T>A
|
|
|
NM_001042432.2(CLN3):c.222+17C>T
|
|
|
NM_001042432.2(CLN3):c.222+18A>G
|
|
|
NM_001042432.2(CLN3):c.222+19C>T
|
|
|
NM_001042432.2(CLN3):c.222+1G>A
|
|
|
NM_001042432.2(CLN3):c.222+20C>T
|
|
|
NM_001042432.2(CLN3):c.222+5G>C
|
rs386833711
|
|
NM_001042432.2(CLN3):c.222+7G>A
|
|
|
NM_001042432.2(CLN3):c.222+9C>G
|
rs2046272964
|
|
NM_001042432.2(CLN3):c.222+9CT[2]
|
rs1064794997
|
|
NM_001042432.2(CLN3):c.223-10C>G
|
|
|
NM_001042432.2(CLN3):c.223-15C>T
|
|
|
NM_001042432.2(CLN3):c.223-16G>A
|
|
|
NM_001042432.2(CLN3):c.223-18A>G
|
|
|
NM_001042432.2(CLN3):c.223-18A>T
|
|
|
NM_001042432.2(CLN3):c.223-6del
|
|
|
NM_001042432.2(CLN3):c.223-7C>T
|
rs1489180288
|
|
NM_001042432.2(CLN3):c.223-8C>T
|
rs973448262
|
|
NM_001042432.2(CLN3):c.228C>T (p.Asp76=)
|
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu)
|
rs1596564333
|
|
NM_001042432.2(CLN3):c.237A>G (p.Pro79=)
|
rs2141717144
|
|
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala)
|
rs150348015
|
|
NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln)
|
|
|
NM_001042432.2(CLN3):c.243G>C (p.Pro81=)
|
rs779165392
|
|
NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu)
|
|
|
NM_001042432.2(CLN3):c.251A>G (p.His84Arg)
|
rs2046262515
|
|
NM_001042432.2(CLN3):c.255C>T (p.Asn85=)
|
rs1173380097
|
|
NM_001042432.2(CLN3):c.258C>T (p.Ser86=)
|
rs1596564281
|
|
NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu)
|
rs2141717001
|
|
NM_001042432.2(CLN3):c.261A>T (p.Ser87=)
|
rs2046262190
|
|
NM_001042432.2(CLN3):c.264A>G (p.Ser88=)
|
rs751321507
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu)
|
rs766287694
|
|
NM_001042432.2(CLN3):c.270T>C (p.Phe90=)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.273C>T (p.Asp91=)
|
rs1213121886
|
|
NM_001042432.2(CLN3):c.276C>G (p.Cys92Trp)
|
|
|
NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser)
|
rs140409296
|
|
NM_001042432.2(CLN3):c.283G>A (p.Val95Ile)
|
rs763659524
|
|
NM_001042432.2(CLN3):c.288T>A (p.Ser96=)
|
rs1555469051
|
|
NM_001042432.2(CLN3):c.293C>A (p.Ala98Asp)
|
rs1361279384
|
|
NM_001042432.2(CLN3):c.293C>T (p.Ala98Val)
|
|
|
NM_001042432.2(CLN3):c.294+10C>G
|
rs367693072
|
|
NM_001042432.2(CLN3):c.294+10C>T
|
rs367693072
|
|
NM_001042432.2(CLN3):c.294+17C>T
|
|
|
NM_001042432.2(CLN3):c.294+4C>T
|
|
|
NM_001042432.2(CLN3):c.294+7A>G
|
rs2141716762
|
|
NM_001042432.2(CLN3):c.294+8C>T
|
|
|
NM_001042432.2(CLN3):c.294+8_294+10inv
|
|
|
NM_001042432.2(CLN3):c.294+9T>C
|
|
|
NM_001042432.2(CLN3):c.295-12C>T
|
rs2141715293
|
|
NM_001042432.2(CLN3):c.295-13T>A
|
rs796052333
|
|
NM_001042432.2(CLN3):c.295-17C>G
|
rs375311626
|
|
NM_001042432.2(CLN3):c.295-17del
|
|
|
NM_001042432.2(CLN3):c.295-18T>C
|
|
|
NM_001042432.2(CLN3):c.295-19C>T
|
|
|
NM_001042432.2(CLN3):c.295-5C>T
|
|
|
NM_001042432.2(CLN3):c.295-7G>A
|
|
|
NM_001042432.2(CLN3):c.295-7G>T
|
|
|
NM_001042432.2(CLN3):c.29G>A (p.Arg10His)
|
|
|
NM_001042432.2(CLN3):c.304C>G (p.Leu102Val)
|
rs1167562278
|
|
NM_001042432.2(CLN3):c.306G>A (p.Leu102=)
|
|
|
NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr)
|
|
|
NM_001042432.2(CLN3):c.30del (p.Ser12fs)
|
rs2141722729
|
|
NM_001042432.2(CLN3):c.312C>T (p.Asp104=)
|
rs1596563212
|
|
NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe)
|
|
|
NM_001042432.2(CLN3):c.317dup (p.Thr108fs)
|
|
|
NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg)
|
|
|
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu)
|
rs1231056238
|
|
NM_001042432.2(CLN3):c.321C>A (p.Pro107=)
|
|
|
NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala)
|
rs1302804526
|
|
NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile)
|
|
|
NM_001042432.2(CLN3):c.324A>G (p.Thr108=)
|
rs2046245530
|
|
NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro)
|
|
|
NM_001042432.2(CLN3):c.354C>T (p.Gly118=)
|
|
|
NM_001042432.2(CLN3):c.358C>A (p.His120Asn)
|
rs145749864
|
|
NM_001042432.2(CLN3):c.358C>T (p.His120Tyr)
|
|
|
NM_001042432.2(CLN3):c.360C>T (p.His120=)
|
|
|
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg)
|
rs2046244488
|
|
NM_001042432.2(CLN3):c.366G>A (p.Leu122=)
|
|
|
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser)
|
rs1567261702
|
|
NM_001042432.2(CLN3):c.36G>C (p.Ser12=)
|
|
|
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)
|
rs386833715
|
|
NM_001042432.2(CLN3):c.374+14T>C
|
rs528885790
|
|
NM_001042432.2(CLN3):c.374+15A>G
|
rs1160399050
|
|
NM_001042432.2(CLN3):c.374+16G>T
|
rs2141714919
|
|
NM_001042432.2(CLN3):c.374+1G>A
|
rs2046243804
|
|
NM_001042432.2(CLN3):c.374+7G>A
|
rs2141714955
|
|
NM_001042432.2(CLN3):c.374+7G>C
|
rs2141714955
|
|
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn)
|
rs386833716
|
|
NM_001042432.2(CLN3):c.375-11C>A
|
|
|
NM_001042432.2(CLN3):c.375-11C>T
|
rs1039039106
|
|
NM_001042432.2(CLN3):c.375-13C>A
|
rs747701616
|
|
NM_001042432.2(CLN3):c.375-19_375-4dup
|
rs755313503
|
|
NM_001042432.2(CLN3):c.375-2A>T
|
rs2046240661
|
|
NM_001042432.2(CLN3):c.375-4del
|
rs2141714611
|
|
NM_001042432.2(CLN3):c.375-5C>G
|
rs751293136
|
|
NM_001042432.2(CLN3):c.375-5del
|
|
|
NM_001042432.2(CLN3):c.375-5dup
|
|
|
NM_001042432.2(CLN3):c.375-6C>A
|
|
|
NM_001042432.2(CLN3):c.375-8C>T
|
rs2141714646
|
|
NM_001042432.2(CLN3):c.378C>T (p.Pro126=)
|
rs1596562865
|
|
NM_001042432.2(CLN3):c.379del (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.37G>T (p.Asp13Tyr)
|
|
|
NM_001042432.2(CLN3):c.386_387delinsCT (p.Leu129Pro)
|
|
|
NM_001042432.2(CLN3):c.388G>A (p.Val130Ile)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.388G>T (p.Val130Phe)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.391A>G (p.Ser131Gly)
|
rs2046239997
|
|
NM_001042432.2(CLN3):c.392del (p.Ser131fs)
|
rs2141714500
|
|
NM_001042432.2(CLN3):c.393T>C (p.Ser131=)
|
rs794727850
|
|
NM_001042432.2(CLN3):c.396G>A (p.Gly132=)
|
|
|
NM_001042432.2(CLN3):c.397A>T (p.Ile133Phe)
|
rs1295659689
|
|
NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)
|
|
|
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)
|
rs386833719
|
|
NM_001042432.2(CLN3):c.403G>A (p.Ala135Thr)
|
rs1314360861
|
|
NM_001042432.2(CLN3):c.406G>T (p.Ala136Ser)
|
rs2046239467
|
|
NM_001042432.2(CLN3):c.411A>G (p.Gly137=)
|
rs2141714445
|
|
NM_001042432.2(CLN3):c.413del (p.Ser138fs)
|
|
|
NM_001042432.2(CLN3):c.414C>T (p.Ser138=)
|
rs772960606
|
|
NM_001042432.2(CLN3):c.419T>C (p.Val140Ala)
|
|
|
NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe)
|
rs2141722690
|
|
NM_001042432.2(CLN3):c.420C>A (p.Val140=)
|
|
|
NM_001042432.2(CLN3):c.421C>G (p.Leu141Val)
|
rs2141714404
|
|
NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro)
|
rs2046239033
|
|
NM_001042432.2(CLN3):c.423G>C (p.Leu141=)
|
rs1426849822
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr)
|
rs904694610
|
|
NM_001042432.2(CLN3):c.42C>A (p.Ser14=)
|
|
|
NM_001042432.2(CLN3):c.433T>C (p.Ser145Pro)
|
rs780814580
|
|
NM_001042432.2(CLN3):c.439T>G (p.Ser147Ala)
|
rs2141714357
|
|
NM_001042432.2(CLN3):c.43G>A (p.Glu15Lys)
|
|
|
NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)
|
rs1228953213
|
|
NM_001042432.2(CLN3):c.443_445del (p.Val148del)
|
rs752130042
|
|
NM_001042432.2(CLN3):c.447G>A (p.Gly149=)
|
|
|
NM_001042432.2(CLN3):c.450C>T (p.Thr150=)
|
|
|
NM_001042432.2(CLN3):c.451A>T (p.Ser151Cys)
|
rs2141714276
|
|
NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr)
|
rs750813350
|
|
NM_001042432.2(CLN3):c.46+10C>T
|
rs1596568060
|
|
NM_001042432.2(CLN3):c.46+11C>G
|
|
|
NM_001042432.2(CLN3):c.46+11C>T
|
rs1274196955
|
|
NM_001042432.2(CLN3):c.46+12C>A
|
|
|
NM_001042432.2(CLN3):c.46+12C>T
|
|
|
NM_001042432.2(CLN3):c.46+13G>T
|
rs532377265
|
|
NM_001042432.2(CLN3):c.46+14C>T
|
|
|
NM_001042432.2(CLN3):c.46+15C>T
|
|
|
NM_001042432.2(CLN3):c.46+16C>A
|
|
|
NM_001042432.2(CLN3):c.46+16C>T
|
|
|
NM_001042432.2(CLN3):c.46+1G>A
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.46+5G>A
|
|
|
NM_001042432.2(CLN3):c.46+7A>G
|
rs2141722628
|
|
NM_001042432.2(CLN3):c.46+9T>C
|
|
|
NM_001042432.2(CLN3):c.460+10T>C
|
|
|
NM_001042432.2(CLN3):c.460+12G>A
|
|
|
NM_001042432.2(CLN3):c.460+12G>C
|
|
|
NM_001042432.2(CLN3):c.460+12G>T
|
|
|
NM_001042432.2(CLN3):c.460+16T>C
|
|
|
NM_001042432.2(CLN3):c.460+17G>A
|
|
|
NM_001042432.2(CLN3):c.460+1G>A
|
rs1397086223
|
|
NM_001042432.2(CLN3):c.460+20T>A
|
|
|
NM_001042432.2(CLN3):c.460+2T>G
|
|
|
NM_001042432.2(CLN3):c.460+7G>A
|
|
|
NM_001042432.2(CLN3):c.460+9G>A
|
rs2141714258
|
|
NM_001042432.2(CLN3):c.461-11C>G
|
|
|
NM_001042432.2(CLN3):c.461-19G>C
|
|
|
NM_001042432.2(CLN3):c.461-1G>A
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-2A>G
|
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.461-3C>T
|
rs181995380
|
|
NM_001042432.2(CLN3):c.461-3del
|
rs766754807
|
|
NM_001042432.2(CLN3):c.461-3dup
|
|
|
NM_001042432.2(CLN3):c.461-4C>G
|
rs1006236175
|
|
NM_001042432.2(CLN3):c.461-5C>G
|
rs779793979
|
|
NM_001042432.2(CLN3):c.461-5C>T
|
rs779793979
|
|
NM_001042432.2(CLN3):c.461-6C>T
|
|
|
NM_001042432.2(CLN3):c.461-7C>T
|
rs1036844453
|
|
NM_001042432.2(CLN3):c.461-8C>A
|
rs897938562
|
|
NM_001042432.2(CLN3):c.466G>C (p.Val156Leu)
|
|
|
NM_001042432.2(CLN3):c.47-2A>T
|
|
|
NM_001042432.2(CLN3):c.47-4C>G
|
|
|
NM_001042432.2(CLN3):c.47-4C>T
|
rs1555469480
|
|
NM_001042432.2(CLN3):c.47-5C>G
|
|
|
NM_001042432.2(CLN3):c.47-7C>G
|
rs776361372
|
|
NM_001042432.2(CLN3):c.47-8T>C
|
rs1596567778
|
|
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)
|
rs386833723
|
|
NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.483A>G (p.Ser161=)
|
|
|
NM_001042432.2(CLN3):c.490C>G (p.Leu164Val)
|
|
|
NM_001042432.2(CLN3):c.492T>C (p.Leu164=)
|
|
|
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly)
|
rs2141712916
|
|
NM_001042432.2(CLN3):c.500T>A (p.Val167Asp)
|
rs1418465028
|
|
NM_001042432.2(CLN3):c.501C>T (p.Val167=)
|
rs2141712899
|
|
NM_001042432.2(CLN3):c.505T>G (p.Phe169Val)
|
rs1392387565
|
|
NM_001042432.2(CLN3):c.510C>T (p.Leu170=)
|
|
|
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)
|
rs1401497994
|
|
NM_001042432.2(CLN3):c.513C>T (p.Ser171=)
|
rs1384593542
|
|
NM_001042432.2(CLN3):c.522C>T (p.Ala174=)
|
|
|
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His)
|
rs1191755724
|
|
NM_001042432.2(CLN3):c.528C>T (p.Tyr176=)
|
|
|
NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu)
|
|
|
NM_001042432.2(CLN3):c.533+11G>A
|
|
|
NM_001042432.2(CLN3):c.533+12G>A
|
|
|
NM_001042432.2(CLN3):c.533+12G>T
|
|
|
NM_001042432.2(CLN3):c.533+15C>T
|
|
|
NM_001042432.2(CLN3):c.533+19del
|
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.533+3_533+10del
|
rs2141712782
|
|
NM_001042432.2(CLN3):c.533+6C>T
|
rs2141712792
|
|
NM_001042432.2(CLN3):c.534-17T>C
|
|
|
NM_001042432.2(CLN3):c.534-1G>C
|
|
|
NM_001042432.2(CLN3):c.534-20T>A
|
rs1209961868
|
|
NM_001042432.2(CLN3):c.534-2A>G
|
rs2046221354
|
|
NM_001042432.2(CLN3):c.534-5C>T
|
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001042432.2(CLN3):c.538G>C (p.Val180Leu)
|
rs202215629
|
|
NM_001042432.2(CLN3):c.53A>G (p.Glu18Gly)
|
rs2046314460
|
|
NM_001042432.2(CLN3):c.540G>T (p.Val180=)
|
|
|
NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp)
|
rs2141722130
|
|
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe)
|
rs2046221010
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
|
|
|
NM_001042432.2(CLN3):c.564T>C (p.Thr188=)
|
|
|
NM_001042432.2(CLN3):c.564T>G (p.Thr188=)
|
|
|
NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.569dup (p.Ala191fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.56C>T (p.Thr19Ile)
|
|
|
NM_001042432.2(CLN3):c.573T>C (p.Ala191=)
|
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.576G>T (p.Gly192=)
|
rs566516380
|
|
NM_001042432.2(CLN3):c.579G>A (p.Leu193=)
|
|
|
NM_001042432.2(CLN3):c.57C>A (p.Thr19=)
|
|
|
NM_001042432.2(CLN3):c.57C>G (p.Thr19=)
|
rs2141722111
|
|
NM_001042432.2(CLN3):c.582G>A (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.589C>G (p.Leu197Val)
|
rs753705869
|
|
NM_001042432.2(CLN3):c.589C>T (p.Leu197=)
|
rs753705869
|
|
NM_001042432.2(CLN3):c.591G>C (p.Leu197=)
|
rs764082661
|
|
NM_001042432.2(CLN3):c.592del (p.Ser198fs)
|
rs2141712336
|
|
NM_001042432.2(CLN3):c.594C>T (p.Ser198=)
|
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042432.2(CLN3):c.598_601dup (p.Gly201fs)
|
|
|
NM_001042432.2(CLN3):c.599_615del (p.Leu200fs)
|
|
|
NM_001042432.2(CLN3):c.608C>T (p.Thr203Ile)
|
|
|
NM_001042432.2(CLN3):c.609C>G (p.Thr203=)
|
rs2141712284
|
|
NM_001042432.2(CLN3):c.60C>T (p.Val20=)
|
|
|
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro)
|
rs2141712276
|
|
NM_001042432.2(CLN3):c.618C>T (p.Gly206=)
|
rs2141712243
|
|
NM_001042432.2(CLN3):c.620T>C (p.Leu207Pro)
|
rs1411868641
|
|
NM_001042432.2(CLN3):c.62C>G (p.Pro21Arg)
|
|
|
NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu)
|
rs562525993
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.636C>T (p.Thr212=)
|
|
|
NM_001042432.2(CLN3):c.637C>T (p.Leu213=)
|
rs2141712165
|
|
NM_001042432.2(CLN3):c.639G>C (p.Leu213=)
|
rs2141712141
|
|
NM_001042432.2(CLN3):c.639del (p.Leu214fs)
|
rs2046218391
|
|
NM_001042432.2(CLN3):c.63G>A (p.Pro21=)
|
|
|
NM_001042432.2(CLN3):c.642G>A (p.Leu214=)
|
|
|
NM_001042432.2(CLN3):c.644C>T (p.Ser215Phe)
|
|
|
NM_001042432.2(CLN3):c.645C>A (p.Ser215=)
|
rs1462596482
|
|
NM_001042432.2(CLN3):c.645C>G (p.Ser215=)
|
rs1462596482
|
|
NM_001042432.2(CLN3):c.646A>G (p.Met216Val)
|
rs2046218124
|
|
NM_001042432.2(CLN3):c.651G>C (p.Leu217=)
|
rs2141712068
|
|
NM_001042432.2(CLN3):c.657C>A (p.Ile219=)
|
|
|
NM_001042432.2(CLN3):c.657C>T (p.Ile219=)
|
rs1364319614
|
|
NM_001042432.2(CLN3):c.662C>T (p.Ala221Val)
|
|
|
NM_001042432.2(CLN3):c.663C>T (p.Ala221=)
|
|
|
NM_001042432.2(CLN3):c.666G>A (p.Leu222=)
|
|
|
NM_001042432.2(CLN3):c.66G>A (p.Glu22=)
|
rs2141722085
|
|
NM_001042432.2(CLN3):c.671T>C (p.Leu224Pro)
|
rs2046217325
|
|
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)
|
rs1555468695
|
|
NM_001042432.2(CLN3):c.677+10C>A
|
|
|
NM_001042432.2(CLN3):c.677+10C>T
|
|
|
NM_001042432.2(CLN3):c.677+11C>T
|
|
|
NM_001042432.2(CLN3):c.677+18G>T
|
|
|
NM_001042432.2(CLN3):c.677+5G>C
|
|
|
NM_001042432.2(CLN3):c.677+7T>G
|
|
|
NM_001042432.2(CLN3):c.677+9C>T
|
rs2141711965
|
|
NM_001042432.2(CLN3):c.678-14C>T
|
|
|
NM_001042432.2(CLN3):c.678-6T>C
|
rs2141707250
|
|
NM_001042432.2(CLN3):c.678-7C>T
|
rs2141707254
|
|
NM_001042432.2(CLN3):c.678-8A>G
|
|
|
NM_001042432.2(CLN3):c.683del (p.Phe228fs)
|
|
|
NM_001042432.2(CLN3):c.684C>T (p.Phe228=)
|
|
|
NM_001042432.2(CLN3):c.688T>A (p.Leu230Met)
|
rs746075287
|
|
NM_001042432.2(CLN3):c.688T>C (p.Leu230=)
|
rs746075287
|
|
NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp)
|
rs2046161855
|
|
NM_001042432.2(CLN3):c.696A>G (p.Thr232=)
|
|
|
NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr)
|
rs2046161412
|
|
NM_001042432.2(CLN3):c.6A>G (p.Gly2=)
|
|
|
NM_001042432.2(CLN3):c.702T>G (p.Pro234=)
|
|
|
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val)
|
rs754906598
|
|
NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter)
|
rs2141707084
|
|
NM_001042432.2(CLN3):c.711G>A (p.Gln237=)
|
rs2141707065
|
|
NM_001042432.2(CLN3):c.714C>T (p.Asp238=)
|
|
|
NM_001042432.2(CLN3):c.717T>C (p.Pro239=)
|
rs2046160732
|
|
NM_001042432.2(CLN3):c.723G>T (p.Gly241=)
|
rs2141707009
|
|
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp)
|
rs2046160396
|
|
NM_001042432.2(CLN3):c.729del (p.Glu244fs)
|
|
|
NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala)
|
rs2046160099
|
|
NM_001042432.2(CLN3):c.734C>A (p.Ala245Glu)
|
rs2141706952
|
|
NM_001042432.2(CLN3):c.734_736del (p.Ala245del)
|
rs776966610
|
|
NM_001042432.2(CLN3):c.737A>T (p.Glu246Val)
|
rs2046159849
|
|
NM_001042432.2(CLN3):c.739A>C (p.Ser247Arg)
|
|
|
NM_001042432.2(CLN3):c.744A>C (p.Ala248=)
|
rs1446036630
|
|
NM_001042432.2(CLN3):c.747C>T (p.Ala249=)
|
|
|
NM_001042432.2(CLN3):c.749G>C (p.Arg250Pro)
|
rs374217931
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu)
|
rs761065339
|
|
NM_001042432.2(CLN3):c.756C>T (p.Pro252=)
|
rs2046158184
|
|
NM_001042432.2(CLN3):c.759C>T (p.Leu253=)
|
rs772274552
|
|
NM_001042432.2(CLN3):c.75C>A (p.Leu25=)
|
|
|
NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile)
|
rs1064796298
|
|
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)
|
rs73533466
|
|
NM_001042432.2(CLN3):c.772G>A (p.Ala258Thr)
|
|
|
NM_001042432.2(CLN3):c.774C>T (p.Ala258=)
|
|
|
NM_001042432.2(CLN3):c.775C>T (p.Pro259Ser)
|
|
|
NM_001042432.2(CLN3):c.776C>A (p.Pro259Gln)
|
rs137858807
|
|
NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu)
|
|
|
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)
|
rs1064794233
|
|
NM_001042432.2(CLN3):c.790+10A>G
|
rs2141706615
|
|
NM_001042432.2(CLN3):c.790+14A>C
|
|
|
NM_001042432.2(CLN3):c.790+19C>G
|
|
|
NM_001042432.2(CLN3):c.790+1G>A
|
|
|
NM_001042432.2(CLN3):c.790+1G>T
|
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
NM_001042432.2(CLN3):c.790+2T>C
|
rs1397197980
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042432.2(CLN3):c.790+7G>A
|
rs2046156095
|
|
NM_001042432.2(CLN3):c.790+7G>C
|
rs2046156095
|
|
NM_001042432.2(CLN3):c.790+9C>G
|
rs1220855528
|
|
NM_001042432.2(CLN3):c.790G>T (p.Gly264Cys)
|
rs2046156366
|
|
NM_001042432.2(CLN3):c.791-11T>G
|
|
|
NM_001042432.2(CLN3):c.791-13T>C
|
|
|
NM_001042432.2(CLN3):c.791-15T>C
|
|
|
NM_001042432.2(CLN3):c.791-16C>G
|
|
|
NM_001042432.2(CLN3):c.791-20C>T
|
|
|
NM_001042432.2(CLN3):c.791-2A>G
|
|
|
NM_001042432.2(CLN3):c.791-5T>G
|
|
|
NM_001042432.2(CLN3):c.791-6del
|
rs2141704273
|
|
NM_001042432.2(CLN3):c.791-7C>T
|
|
|
NM_001042432.2(CLN3):c.791-8C>T
|
rs2141704283
|
|
NM_001042432.2(CLN3):c.791-9C>A
|
|
|
NM_001042432.2(CLN3):c.791-9C>T
|
rs771178755
|
|
NM_001042432.2(CLN3):c.792C>T (p.Gly264=)
|
rs2046122078
|
|
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala)
|
rs2141704251
|
|
NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe)
|
|
|
NM_001042432.2(CLN3):c.798C>T (p.Ser266=)
|
rs2141704238
|
|
NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser)
|
rs1398814860
|
|
NM_001042432.2(CLN3):c.804C>T (p.Ser268=)
|
rs773546150
|
|
NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe)
|
rs1308474116
|
|
NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro)
|
|
|
NM_001042432.2(CLN3):c.813T>A (p.Leu271=)
|
|
|
NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter)
|
rs2141704162
|
|
NM_001042432.2(CLN3):c.828_829del (p.Phe278fs)
|
|
|
NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile)
|
rs1567257709
|
|
NM_001042432.2(CLN3):c.837+10A>T
|
|
|
NM_001042432.2(CLN3):c.837+13G>A
|
|
|
NM_001042432.2(CLN3):c.837+17G>C
|
|
|
NM_001042432.2(CLN3):c.837+1G>T
|
|
|
NM_001042432.2(CLN3):c.837+3del
|
rs759553835
|
|
NM_001042432.2(CLN3):c.837+4C>T
|
rs778372397
|
|
NM_001042432.2(CLN3):c.837+9G>A
|
|
|
NM_001042432.2(CLN3):c.837+9dup
|
rs774380601
|
|
NM_001042432.2(CLN3):c.838-11G>A
|
|
|
NM_001042432.2(CLN3):c.838-12T>C
|
rs778887944
|
|
NM_001042432.2(CLN3):c.838-17T>A
|
|
|
NM_001042432.2(CLN3):c.838-20A>T
|
|
|
NM_001042432.2(CLN3):c.838-9C>T
|
rs1157303314
|
|
NM_001042432.2(CLN3):c.843G>A (p.Leu281=)
|
rs932586773
|
|
NM_001042432.2(CLN3):c.843G>T (p.Leu281=)
|
rs932586773
|
|
NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)
|
|
|
NM_001042432.2(CLN3):c.846G>A (p.Leu282=)
|
rs2141703882
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_001042432.2(CLN3):c.855T>C (p.Ile285=)
|
|
|
NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr)
|
rs796052341
|
|
NM_001042432.2(CLN3):c.861C>G (p.Pro287=)
|
|
|
NM_001042432.2(CLN3):c.861C>T (p.Pro287=)
|
rs1057524528
|
|
NM_001042432.2(CLN3):c.867C>G (p.Val289=)
|
rs2046117159
|
|
NM_001042432.2(CLN3):c.867C>T (p.Val289=)
|
rs2046117159
|
|
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)
|
rs369008702
|
|
NM_001042432.2(CLN3):c.870A>G (p.Val290=)
|
rs1555468214
|
|
NM_001042432.2(CLN3):c.871dup (p.Val291fs)
|
|
|
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu)
|
rs1131691496
|
|
NM_001042432.2(CLN3):c.882C>G (p.Ala294=)
|
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly)
|
rs2141703722
|
|
NM_001042432.2(CLN3):c.885G>A (p.Glu295=)
|
|
|
NM_001042432.2(CLN3):c.906+10G>A
|
rs1486544857
|
|
NM_001042432.2(CLN3):c.906+11G>A
|
|
|
NM_001042432.2(CLN3):c.906+15C>G
|
|
|
NM_001042432.2(CLN3):c.906+16T>C
|
rs2141703636
|
|
NM_001042432.2(CLN3):c.906+17A>G
|
|
|
NM_001042432.2(CLN3):c.906+18G>A
|
rs2046115412
|
|
NM_001042432.2(CLN3):c.906+18G>C
|
|
|
NM_001042432.2(CLN3):c.906+20A>C
|
|
|
NM_001042432.2(CLN3):c.906+2T>G
|
rs771788391
|
|
NM_001042432.2(CLN3):c.906+9G>C
|
rs1191183887
|
|
NM_001042432.2(CLN3):c.907-17T>A
|
|
|
NM_001042432.2(CLN3):c.907-18G>A
|
|
|
NM_001042432.2(CLN3):c.907-2A>G
|
rs2141703433
|
|
NM_001042432.2(CLN3):c.907-3C>T
|
|
|
NM_001042432.2(CLN3):c.907-4G>A
|
|
|
NM_001042432.2(CLN3):c.907-7G>A
|
rs368113837
|
|
NM_001042432.2(CLN3):c.915C>G (p.Leu305=)
|
rs759304422
|
|
NM_001042432.2(CLN3):c.915C>T (p.Leu305=)
|
rs759304422
|
|
NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe)
|
|
|
NM_001042432.2(CLN3):c.918C>G (p.Leu306=)
|
|
|
NM_001042432.2(CLN3):c.930C>T (p.Asn310=)
|
rs2141703388
|
|
NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala)
|
|
|
NM_001042432.2(CLN3):c.936C>T (p.Ser312=)
|
rs762896453
|
|
NM_001042432.2(CLN3):c.937C>T (p.Leu313=)
|
|
|
NM_001042432.2(CLN3):c.943C>G (p.His315Asp)
|
rs2141703350
|
|
NM_001042432.2(CLN3):c.944_945insGA (p.His315fs)
|
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.946G>T (p.Ala316Ser)
|
rs780974004
|
|
NM_001042432.2(CLN3):c.947C>G (p.Ala316Gly)
|
rs2046112700
|
|
NM_001042432.2(CLN3):c.954A>T (p.Gln318His)
|
rs2141703284
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.956A>G (p.Tyr319Cys)
|
rs1322613715
|
|
NM_001042432.2(CLN3):c.962+10G>A
|
rs1409669851
|
|
NM_001042432.2(CLN3):c.962+18A>G
|
|
|
NM_001042432.2(CLN3):c.962+2dup
|
|
|
NM_001042432.2(CLN3):c.962+4A>G
|
rs1596556713
|
|
NM_001042432.2(CLN3):c.962+7G>A
|
rs1555468172
|
|
NM_001042432.2(CLN3):c.962+8G>A
|
rs2046112088
|
|
NM_001042432.2(CLN3):c.963-10C>G
|
|
|
NM_001042432.2(CLN3):c.963-15C>G
|
|
|
NM_001042432.2(CLN3):c.963-15C>T
|
rs746276318
|
|
NM_001042432.2(CLN3):c.963-16C>A
|
rs200023908
|
|
NM_001042432.2(CLN3):c.963-16C>T
|
|
|
NM_001042432.2(CLN3):c.963-17C>A
|
rs746616613
|
|
NM_001042432.2(CLN3):c.963-20C>T
|
|
|
NM_001042432.2(CLN3):c.963-2A>G
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.963-5C>A
|
|
|
NM_001042432.2(CLN3):c.963-6C>A
|
|
|
NM_001042432.2(CLN3):c.963-8A>C
|
|
|
NM_001042432.2(CLN3):c.963-8A>G
|
|
|
NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)
|
|
|
NM_001042432.2(CLN3):c.969G>A (p.Gln323=)
|
rs2141702884
|
|
NM_001042432.2(CLN3):c.96C>A (p.Gly32=)
|
|
|
NM_001042432.2(CLN3):c.96C>T (p.Gly32=)
|
|
|
NM_001042432.2(CLN3):c.984T>A (p.Ala328=)
|
rs2141702854
|
|
NM_001042432.2(CLN3):c.985_988del (p.Gly329fs)
|
rs2141702839
|
|
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)
|
rs386833744
|
|
NM_001042432.2(CLN3):c.990C>G (p.Val330=)
|
rs2141702816
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|
NM_001042432.2(CLN3):c.995C>T (p.Ala332Val)
|
|
|
NM_001042432.2(CLN3):c.996C>T (p.Ala332=)
|
|
|
NM_001042432.2(CLN3):c.99G>C (p.Ala33=)
|
|
|
NM_001042432.2(CLN3):c.9C>T (p.Gly3=)
|
rs2141722774
|
|
NM_001292004.2(HEXB):c.-376-4189C>T
|
|
|
NM_001366624.2(CLN5):c.*43G>A
|
rs2034339711
|
|
NM_001909.5(CTSD):c.1002C>T (p.Thr334=)
|
|
|
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
|
rs147800688
|
|
NM_001909.5(CTSD):c.1011G>A (p.Ala337=)
|
|
|
NM_001909.5(CTSD):c.1011G>T (p.Ala337=)
|
|
|
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
|
|
|
NM_001909.5(CTSD):c.1017A>G (p.Thr339=)
|
rs1845760192
|
|
NM_001909.5(CTSD):c.1017A>T (p.Thr339=)
|
|
|
NM_001909.5(CTSD):c.1023G>A (p.Lys341=)
|
rs111849172
|
|
NM_001909.5(CTSD):c.1029A>G (p.Gly343=)
|
|
|
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
|
rs1845759906
|
|
NM_001909.5(CTSD):c.1047G>A (p.Leu349=)
|
rs2133657544
|
|
NM_001909.5(CTSD):c.1050C>T (p.Ser350=)
|
|
|
NM_001909.5(CTSD):c.1052dup (p.Glu352fs)
|
|
|
NM_001909.5(CTSD):c.1056G>A (p.Glu352=)
|
|
|
NM_001909.5(CTSD):c.105C>T (p.Thr35=)
|
rs2133666357
|
|
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
|
|
|
NM_001909.5(CTSD):c.1068C>G (p.Leu356=)
|
|
|
NM_001909.5(CTSD):c.106A>G (p.Met36Val)
|
|
|
NM_001909.5(CTSD):c.1071+10C>A
|
rs2133657508
|
|
NM_001909.5(CTSD):c.1071+10C>T
|
rs2133657508
|
|
NM_001909.5(CTSD):c.1071+12A>T
|
rs113936232
|
|
NM_001909.5(CTSD):c.1071+13_1072-57del
|
|
|
NM_001909.5(CTSD):c.1071+15G>A
|
|
|
NM_001909.5(CTSD):c.1071+16G>A
|
|
|
NM_001909.5(CTSD):c.1071+16G>T
|
|
|
NM_001909.5(CTSD):c.1071+17G>T
|
|
|
NM_001909.5(CTSD):c.1072-11G>A
|
|
|
NM_001909.5(CTSD):c.1072-11G>C
|
rs143631836
|
|
NM_001909.5(CTSD):c.1072-12G>C
|
|
|
NM_001909.5(CTSD):c.1072-15C>G
|
|
|
NM_001909.5(CTSD):c.1072-17C>T
|
|
|
NM_001909.5(CTSD):c.1072-18C>T
|
|
|
NM_001909.5(CTSD):c.1072-1G>A
|
|
|
NM_001909.5(CTSD):c.1072-5C>T
|
rs1184773829
|
|
NM_001909.5(CTSD):c.1072-7G>T
|
rs149019571
|
|
NM_001909.5(CTSD):c.1072-8C>T
|
|
|
NM_001909.5(CTSD):c.1077G>C (p.Ser359=)
|
|
|
NM_001909.5(CTSD):c.1077G>T (p.Ser359=)
|
rs138940129
|
|
NM_001909.5(CTSD):c.1080G>C (p.Gln360His)
|
rs2133657278
|
|
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser)
|
rs1845756287
|
|
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)
|
rs1845755979
|
|
NM_001909.5(CTSD):c.110C>T (p.Ser37Leu)
|
|
|
NM_001909.5(CTSD):c.1111A>G (p.Met371Val)
|
|
|
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
|
rs796052398
|
|
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile)
|
|
|
NM_001909.5(CTSD):c.111G>C (p.Ser37=)
|
rs535140505
|
|
NM_001909.5(CTSD):c.1125C>T (p.Ile375=)
|
|
|
NM_001909.5(CTSD):c.1128G>C (p.Pro376=)
|
|
|
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr)
|
|
|
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)
|
rs1177483130
|
|
NM_001909.5(CTSD):c.1142del (p.Pro381fs)
|
|
|
NM_001909.5(CTSD):c.1146C>G (p.Leu382=)
|
rs1030148662
|
|
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs)
|
rs2133657191
|
|
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs)
|
rs2133657189
|
|
NM_001909.5(CTSD):c.114G>A (p.Glu38=)
|
|
|
NM_001909.5(CTSD):c.115G>A (p.Val39Ile)
|
|
|
NM_001909.5(CTSD):c.115G>C (p.Val39Leu)
|
|
|
NM_001909.5(CTSD):c.1161C>T (p.Asp387=)
|
|
|
NM_001909.5(CTSD):c.1164C>G (p.Val388=)
|
|
|
NM_001909.5(CTSD):c.1164C>T (p.Val388=)
|
|
|
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser)
|
|
|
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys)
|
|
|
NM_001909.5(CTSD):c.1175G>A (p.Arg392His)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1176C>A (p.Arg392=)
|
|
|
NM_001909.5(CTSD):c.117T>C (p.Val39=)
|
|
|
NM_001909.5(CTSD):c.1182C>T (p.Tyr394=)
|
|
|
NM_001909.5(CTSD):c.1185T>C (p.Thr395=)
|
|
|
NM_001909.5(CTSD):c.1185T>G (p.Thr395=)
|
rs1565018468
|
|
NM_001909.5(CTSD):c.1188G>A (p.Val396=)
|
|
|
NM_001909.5(CTSD):c.1194C>T (p.Asp398=)
|
|
|
NM_001909.5(CTSD):c.1196G>A (p.Arg399His)
|
rs797045138
|
|
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del)
|
rs2133657126
|
|
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp)
|
|
|
NM_001909.5(CTSD):c.1206C>T (p.Asn402=)
|
|
|
NM_001909.5(CTSD):c.120G>A (p.Gly40=)
|
|
|
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)
|
rs750489880
|
|
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
|
|
|
NM_001909.5(CTSD):c.1218C>T (p.Phe406=)
|
|
|
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
|
rs1316535195
|
|
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
|
rs1845753565
|
|
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe)
|
|
|
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)
|
rs1554962202
|
|
NM_001909.5(CTSD):c.1236C>G (p.Leu412=)
|
rs1565018392
|
|
NM_001909.5(CTSD):c.1236C>T (p.Leu412=)
|
|
|
NM_001909.5(CTSD):c.1239G>A (p.Ter413=)
|
|
|
NM_001909.5(CTSD):c.12C>T (p.Ser4=)
|
|
|
NM_001909.5(CTSD):c.130G>A (p.Glu44Lys)
|
|
|
NM_001909.5(CTSD):c.132G>C (p.Glu44Asp)
|
|
|
NM_001909.5(CTSD):c.133G>A (p.Asp45Asn)
|
rs1845875103
|
|
NM_001909.5(CTSD):c.141T>C (p.Ile47=)
|
|
|
NM_001909.5(CTSD):c.141T>G (p.Ile47Met)
|
rs545927559
|
|
NM_001909.5(CTSD):c.14G>T (p.Ser5Ile)
|
rs764386803
|
|
NM_001909.5(CTSD):c.152C>G (p.Pro51Arg)
|
rs2133666262
|
|
NM_001909.5(CTSD):c.153del (p.Val52fs)
|
|
|
NM_001909.5(CTSD):c.15C>T (p.Ser5=)
|
|
|
NM_001909.5(CTSD):c.161A>G (p.Lys54Arg)
|
rs1565023298
|
|
NM_001909.5(CTSD):c.162G>A (p.Lys54=)
|
|
|
NM_001909.5(CTSD):c.165C>T (p.Tyr55=)
|
|
|
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)
|
|
|
NM_001909.5(CTSD):c.168C>G (p.Ser56=)
|
|
|
NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)
|
|
|
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)
|
rs1590909993
|
|
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)
|
|
|
NM_001909.5(CTSD):c.177G>A (p.Val59=)
|
|
|
NM_001909.5(CTSD):c.180A>G (p.Pro60=)
|
rs749805002
|
|
NM_001909.5(CTSD):c.182C>T (p.Ala61Val)
|
rs868621027
|
|
NM_001909.5(CTSD):c.184G>T (p.Val62Leu)
|
rs756892066
|
|
NM_001909.5(CTSD):c.189C>G (p.Thr63=)
|
rs114051835
|
|
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)
|
rs539823013
|
|
NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)
|
|
|
NM_001909.5(CTSD):c.192G>A (p.Glu64=)
|
|
|
NM_001909.5(CTSD):c.195G>T (p.Gly65=)
|
rs2133666196
|
|
NM_001909.5(CTSD):c.19C>T (p.Leu7=)
|
rs1470191996
|
|
NM_001909.5(CTSD):c.1A>G (p.Met1Val)
|
|
|
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)
|
rs11555044
|
|
NM_001909.5(CTSD):c.204C>G (p.Pro68=)
|
|
|
NM_001909.5(CTSD):c.207G>A (p.Glu69=)
|
|
|
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)
|
|
|
NM_001909.5(CTSD):c.21G>C (p.Leu7=)
|
|
|
NM_001909.5(CTSD):c.228+17A>G
|
|
|
NM_001909.5(CTSD):c.228+19C>A
|
|
|
NM_001909.5(CTSD):c.228+1G>A
|
rs766300396
|
|
NM_001909.5(CTSD):c.228+1G>T
|
rs766300396
|
|
NM_001909.5(CTSD):c.228+7A>T
|
|
|
NM_001909.5(CTSD):c.228+8T>C
|
|
|
NM_001909.5(CTSD):c.229-12G>A
|
rs767539066
|
|
NM_001909.5(CTSD):c.229-12G>C
|
|
|
NM_001909.5(CTSD):c.229-18del
|
|
|
NM_001909.5(CTSD):c.229-8C>T
|
|
|
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser)
|
rs1590909988
|
|
NM_001909.5(CTSD):c.243G>C (p.Gly81=)
|
|
|
NM_001909.5(CTSD):c.253A>G (p.Ile85Val)
|
rs1565022412
|
|
NM_001909.5(CTSD):c.255C>T (p.Ile85=)
|
|
|
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg)
|
rs1845850566
|
|
NM_001909.5(CTSD):c.261G>C (p.Thr87=)
|
|
|
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)
|
rs796052400
|
|
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
|
|
|
NM_001909.5(CTSD):c.264C>T (p.Pro88=)
|
|
|
NM_001909.5(CTSD):c.267C>A (p.Pro89=)
|
|
|
NM_001909.5(CTSD):c.267C>T (p.Pro89=)
|
|
|
NM_001909.5(CTSD):c.268del (p.Gln90fs)
|
rs752612332
|
|
NM_001909.5(CTSD):c.268dup (p.Gln90fs)
|
rs752612332
|
|
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
|
|
|
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg)
|
rs1042278213
|
|
NM_001909.5(CTSD):c.276C>T (p.Phe92=)
|
|
|
NM_001909.5(CTSD):c.27C>T (p.Leu9=)
|
|
|
NM_001909.5(CTSD):c.285C>T (p.Val95=)
|
rs1845849997
|
|
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
|
rs1845913637
|
|
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg)
|
rs748897941
|
|
NM_001909.5(CTSD):c.300C>T (p.Ser100=)
|
rs1417163449
|
|
NM_001909.5(CTSD):c.304A>C (p.Asn102His)
|
rs2133664207
|
|
NM_001909.5(CTSD):c.306C>T (p.Asn102=)
|
rs1258957118
|
|
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)
|
rs750415207
|
|
NM_001909.5(CTSD):c.307C>T (p.Leu103=)
|
|
|
NM_001909.5(CTSD):c.309G>T (p.Leu103=)
|
|
|
NM_001909.5(CTSD):c.313G>A (p.Val105Ile)
|
rs897944478
|
|
NM_001909.5(CTSD):c.318C>T (p.Pro106=)
|
rs1845849397
|
|
NM_001909.5(CTSD):c.330C>T (p.Cys110=)
|
|
|
NM_001909.5(CTSD):c.339G>A (p.Leu113=)
|
rs2133664177
|
|
NM_001909.5(CTSD):c.342C>T (p.Asp114=)
|
|
|
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
|
|
|
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
|
|
|
NM_001909.5(CTSD):c.352+10G>A
|
rs775828680
|
|
NM_001909.5(CTSD):c.352+10G>C
|
rs775828680
|
|
NM_001909.5(CTSD):c.352+12A>G
|
|
|
NM_001909.5(CTSD):c.352+16T>C
|
rs2133664139
|
|
NM_001909.5(CTSD):c.353-10C>T
|
|
|
NM_001909.5(CTSD):c.353-14G>C
|
|
|
NM_001909.5(CTSD):c.353-15T>C
|
|
|
NM_001909.5(CTSD):c.353-4G>A
|
rs1565022058
|
|
NM_001909.5(CTSD):c.353-6G>A
|
rs1565022065
|
|
NM_001909.5(CTSD):c.353-8C>G
|
|
|
NM_001909.5(CTSD):c.353-8C>T
|
rs760934292
|
|
NM_001909.5(CTSD):c.353-9C>T
|
rs1369399012
|
|
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
|
|
|
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
|
rs1381781298
|
|
NM_001909.5(CTSD):c.360C>T (p.His120=)
|
rs1456005145
|
|
NM_001909.5(CTSD):c.369C>T (p.Tyr123=)
|
|
|
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)
|
rs1590907227
|
|
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
|
|
|
NM_001909.5(CTSD):c.384C>T (p.Ser128=)
|
|
|
NM_001909.5(CTSD):c.390C>T (p.Thr130=)
|
|
|
NM_001909.5(CTSD):c.394G>A (p.Val132Met)
|
rs770820791
|
|
NM_001909.5(CTSD):c.396G>A (p.Val132=)
|
rs2133663597
|
|
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
|
|
|
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
|
rs1845842497
|
|
NM_001909.5(CTSD):c.420C>T (p.Ile140=)
|
|
|
NM_001909.5(CTSD):c.429C>T (p.Gly143=)
|
rs755085691
|
|
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu)
|
rs754147413
|
|
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile)
|
rs911813557
|
|
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg)
|
rs762336399
|
|
NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)
|
|
|
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
|
rs764778708
|
|
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
|
rs1845841625
|
|
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
|
|
|
NM_001909.5(CTSD):c.465dup (p.Val156fs)
|
|
|
NM_001909.5(CTSD):c.468G>A (p.Val156=)
|
|
|
NM_001909.5(CTSD):c.468_469del (p.Ser157fs)
|
|
|
NM_001909.5(CTSD):c.471+17C>A
|
|
|
NM_001909.5(CTSD):c.471+6T>G
|
rs2133663481
|
|
NM_001909.5(CTSD):c.471+8C>T
|
|
|
NM_001909.5(CTSD):c.472-16_472-15del
|
|
|
NM_001909.5(CTSD):c.472-17T>G
|
|
|
NM_001909.5(CTSD):c.472-19A>C
|
rs2133662179
|
|
NM_001909.5(CTSD):c.472-20G>C
|
|
|
NM_001909.5(CTSD):c.472-6C>A
|
|
|
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
|
|
|
NM_001909.5(CTSD):c.474G>C (p.Val158=)
|
|
|
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)
|
rs1845825044
|
|
NM_001909.5(CTSD):c.489G>T (p.Ala163=)
|
|
|
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
|
|
|
NM_001909.5(CTSD):c.495A>G (p.Ser165=)
|
|
|
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)
|
rs796052396
|
|
NM_001909.5(CTSD):c.498C>T (p.Ala166=)
|
|
|
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser)
|
rs1554962647
|
|
NM_001909.5(CTSD):c.507G>A (p.Leu169=)
|
|
|
NM_001909.5(CTSD):c.507G>C (p.Leu169=)
|
|
|
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
|
|
|
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp)
|
rs1845824451
|
|
NM_001909.5(CTSD):c.51del (p.Ala18fs)
|
|
|
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro)
|
rs796052403
|
|
NM_001909.5(CTSD):c.537T>C (p.Phe179=)
|
rs11555045
|
|
NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)
|
|
|
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
|
|
|
NM_001909.5(CTSD):c.558A>C (p.Pro186=)
|
|
|
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)
|
rs1554962634
|
|
NM_001909.5(CTSD):c.570C>T (p.Phe190=)
|
rs1325097000
|
|
NM_001909.5(CTSD):c.571A>G (p.Ile191Val)
|
rs750166391
|
|
NM_001909.5(CTSD):c.573C>T (p.Ile191=)
|
|
|
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr)
|
rs767282477
|
|
NM_001909.5(CTSD):c.585C>T (p.Phe195=)
|
|
|
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
|
rs1388675826
|
|
NM_001909.5(CTSD):c.594C>T (p.Ile198=)
|
|
|
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe)
|
rs1590906292
|
|
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys)
|
rs769825646
|
|
NM_001909.5(CTSD):c.616A>G (p.Ile206Val)
|
rs2133661989
|
|
NM_001909.5(CTSD):c.621C>T (p.Ser207=)
|
rs367978332
|
|
NM_001909.5(CTSD):c.627_628del (p.Asn209fs)
|
|
|
NM_001909.5(CTSD):c.634C>T (p.Leu212=)
|
|
|
NM_001909.5(CTSD):c.639C>A (p.Pro213=)
|
rs146073498
|
|
NM_001909.5(CTSD):c.639C>T (p.Pro213=)
|
rs146073498
|
|
NM_001909.5(CTSD):c.63C>G (p.Leu21=)
|
rs1021613206
|
|
NM_001909.5(CTSD):c.642C>T (p.Val214=)
|
|
|
NM_001909.5(CTSD):c.645C>T (p.Phe215=)
|
|
|
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)
|
rs1235872591
|
|
NM_001909.5(CTSD):c.64G>T (p.Val22Phe)
|
rs1060502503
|
|
NM_001909.5(CTSD):c.654G>T (p.Leu218=)
|
|
|
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
|
|
|
NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)
|
|
|
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)
|
rs1845822086
|
|
NM_001909.5(CTSD):c.666G>A (p.Lys222=)
|
rs2133661919
|
|
NM_001909.5(CTSD):c.669G>A (p.Leu223=)
|
|
|
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
|
|
|
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
|
|
|
NM_001909.5(CTSD):c.672G>A (p.Val224=)
|
|
|
NM_001909.5(CTSD):c.675_704+1dup
|
|
|
NM_001909.5(CTSD):c.68+10C>G
|
rs760082760
|
|
NM_001909.5(CTSD):c.68+11_68+12del
|
|
|
NM_001909.5(CTSD):c.68+16C>T
|
|
|
NM_001909.5(CTSD):c.68+18G>A
|
|
|
NM_001909.5(CTSD):c.68+19G>A
|
|
|
NM_001909.5(CTSD):c.68+19G>C
|
|
|
NM_001909.5(CTSD):c.68+1G>A
|
|
|
NM_001909.5(CTSD):c.68+5A>C
|
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_001909.5(CTSD):c.689_691del (p.Ser230del)
|
|
|
NM_001909.5(CTSD):c.69-11G>C
|
rs199970909
|
|
NM_001909.5(CTSD):c.69-12C>A
|
rs764025297
|
|
NM_001909.5(CTSD):c.69-14C>T
|
|
|
NM_001909.5(CTSD):c.69-15A>G
|
|
|
NM_001909.5(CTSD):c.69-16G>C
|
rs377703110
|
|
NM_001909.5(CTSD):c.69-17C>T
|
rs371858126
|
|
NM_001909.5(CTSD):c.69-17del
|
|
|
NM_001909.5(CTSD):c.69-18C>T
|
|
|
NM_001909.5(CTSD):c.69-19C>T
|
|
|
NM_001909.5(CTSD):c.69-1G>A
|
|
|
NM_001909.5(CTSD):c.692_694del (p.Phe231del)
|
rs1478615059
|
|
NM_001909.5(CTSD):c.696C>T (p.Tyr232=)
|
|
|
NM_001909.5(CTSD):c.704+10T>C
|
|
|
NM_001909.5(CTSD):c.704+11G>A
|
|
|
NM_001909.5(CTSD):c.704+17C>T
|
|
|
NM_001909.5(CTSD):c.704+19T>C
|
|
|
NM_001909.5(CTSD):c.704+1G>T
|
|
|
NM_001909.5(CTSD):c.704+6C>A
|
rs370847523
|
|
NM_001909.5(CTSD):c.704+7G>A
|
rs748547852
|
|
NM_001909.5(CTSD):c.704+7G>T
|
|
|
NM_001909.5(CTSD):c.704+9G>C
|
rs2133661868
|
|
NM_001909.5(CTSD):c.704+9G>T
|
|
|
NM_001909.5(CTSD):c.705-15C>T
|
|
|
NM_001909.5(CTSD):c.705-63_705-11del
|
rs2133660021
|
|
NM_001909.5(CTSD):c.705-7C>T
|
|
|
NM_001909.5(CTSD):c.708C>T (p.Asp236=)
|
|
|
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)
|
rs1845876465
|
|
NM_001909.5(CTSD):c.717G>C (p.Ala239=)
|
|
|
NM_001909.5(CTSD):c.717G>T (p.Ala239=)
|
|
|
NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)
|
|
|
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
|
|
|
NM_001909.5(CTSD):c.728del (p.Gly243fs)
|
|
|
NM_001909.5(CTSD):c.72C>G (p.Ile24Met)
|
|
|
NM_001909.5(CTSD):c.733C>T (p.Leu245=)
|
|
|
NM_001909.5(CTSD):c.741G>C (p.Leu247=)
|
|
|
NM_001909.5(CTSD):c.753C>T (p.Asp251=)
|
rs2133659952
|
|
NM_001909.5(CTSD):c.756C>T (p.Ser252=)
|
|
|
NM_001909.5(CTSD):c.756dup (p.Lys253fs)
|
|
|
NM_001909.5(CTSD):c.759G>A (p.Lys253=)
|
rs2133659945
|
|
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
|
|
|
NM_001909.5(CTSD):c.768G>A (p.Lys256=)
|
|
|
NM_001909.5(CTSD):c.775C>T (p.Leu259=)
|
|
|
NM_001909.5(CTSD):c.780C>G (p.Ser260=)
|
|
|
NM_001909.5(CTSD):c.780C>T (p.Ser260=)
|
rs1404000220
|
|
NM_001909.5(CTSD):c.795C>T (p.Thr265=)
|
|
|
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
|
|
|
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)
|
rs749091423
|
|
NM_001909.5(CTSD):c.804C>T (p.Ala268=)
|
|
|
NM_001909.5(CTSD):c.816C>A (p.Val272=)
|
rs1554962441
|
|
NM_001909.5(CTSD):c.816C>T (p.Val272=)
|
|
|
NM_001909.5(CTSD):c.824_827+30del
|
rs2133659840
|
|
NM_001909.5(CTSD):c.827+14_827+15delinsTT
|
rs2133659869
|
|
NM_001909.5(CTSD):c.827+17G>A
|
|
|
NM_001909.5(CTSD):c.827+17G>C
|
|
|
NM_001909.5(CTSD):c.827+19del
|
|
|
NM_001909.5(CTSD):c.827+20G>T
|
rs763211820
|
|
NM_001909.5(CTSD):c.827+2T>C
|
rs1845791308
|
|
NM_001909.5(CTSD):c.827+5G>A
|
|
|
NM_001909.5(CTSD):c.828-15C>G
|
|
|
NM_001909.5(CTSD):c.828-16C>T
|
|
|
NM_001909.5(CTSD):c.828-19_828-18delinsCT
|
|
|
NM_001909.5(CTSD):c.828-20C>T
|
|
|
NM_001909.5(CTSD):c.828-2A>C
|
|
|
NM_001909.5(CTSD):c.828-3C>A
|
|
|
NM_001909.5(CTSD):c.828-6C>G
|
rs1222306629
|
|
NM_001909.5(CTSD):c.828-7C>T
|
|
|
NM_001909.5(CTSD):c.828-8C>T
|
|
|
NM_001909.5(CTSD):c.828-9T>G
|
|
|
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
|
|
|
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)
|
|
|
NM_001909.5(CTSD):c.831G>A (p.Val277=)
|
rs764812657
|
|
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln)
|
rs1402574017
|
|
NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)
|
|
|
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu)
|
|
|
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp)
|
|
|
NM_001909.5(CTSD):c.845G>T (p.Gly282Val)
|
|
|
NM_001909.5(CTSD):c.849G>A (p.Leu283=)
|
rs1014674908
|
|
NM_001909.5(CTSD):c.84G>A (p.Lys28=)
|
|
|
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)
|
|
|
NM_001909.5(CTSD):c.853del (p.Leu285fs)
|
|
|
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
|
|
|
NM_001909.5(CTSD):c.873G>A (p.Glu291=)
|
|
|
NM_001909.5(CTSD):c.879T>A (p.Ile293=)
|
|
|
NM_001909.5(CTSD):c.885C>T (p.Asp295=)
|
|
|
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
|
|
|
NM_001909.5(CTSD):c.888A>C (p.Thr296=)
|
|
|
NM_001909.5(CTSD):c.894T>G (p.Thr298=)
|
|
|
NM_001909.5(CTSD):c.8C>A (p.Pro3His)
|
|
|
NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)
|
|
|
NM_001909.5(CTSD):c.904G>T (p.Val302Leu)
|
rs749491748
|
|
NM_001909.5(CTSD):c.906G>A (p.Val302=)
|
|
|
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del)
|
|
|
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del)
|
|
|
NM_001909.5(CTSD):c.908del (p.Gly303fs)
|
rs2133657906
|
|
NM_001909.5(CTSD):c.909C>T (p.Gly303=)
|
|
|
NM_001909.5(CTSD):c.914_947del (p.Val305fs)
|
|
|
NM_001909.5(CTSD):c.918T>C (p.Asp306=)
|
rs2133657880
|
|
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)
|
|
|
NM_001909.5(CTSD):c.924G>A (p.Val308=)
|
rs1554962286
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
|
NM_001909.5(CTSD):c.942C>T (p.Ala314=)
|
|
|
NM_001909.5(CTSD):c.949del (p.Ala317fs)
|
rs2133657826
|
|
NM_001909.5(CTSD):c.94A>G (p.Ile32Val)
|
|
|
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
|
|
|
NM_001909.5(CTSD):c.952del (p.Val318fs)
|
|
|
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
|
rs761766384
|
|
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys)
|
|
|
NM_001909.5(CTSD):c.972+10_972+15del
|
|
|
NM_001909.5(CTSD):c.972+10_972+15dup
|
|
|
NM_001909.5(CTSD):c.972+12G>A
|
|
|
NM_001909.5(CTSD):c.972+13G>A
|
|
|
NM_001909.5(CTSD):c.972+14G>A
|
rs752075136
|
|
NM_001909.5(CTSD):c.972+14G>C
|
rs752075136
|
|
NM_001909.5(CTSD):c.972+14G>T
|
|
|
NM_001909.5(CTSD):c.972+15C>A
|
|
|
NM_001909.5(CTSD):c.972+15C>T
|
|
|
NM_001909.5(CTSD):c.972+18G>A
|
|
|
NM_001909.5(CTSD):c.972+1G>C
|
|
|
NM_001909.5(CTSD):c.972+4A>G
|
rs2133657784
|
|
NM_001909.5(CTSD):c.972+4_972+5dup
|
rs1386489811
|
|
NM_001909.5(CTSD):c.972+7G>C
|
|
|
NM_001909.5(CTSD):c.972+9C>G
|
rs746243061
|
|
NM_001909.5(CTSD):c.973-12G>A
|
|
|
NM_001909.5(CTSD):c.973-12G>C
|
|
|
NM_001909.5(CTSD):c.973-13T>C
|
|
|
NM_001909.5(CTSD):c.973-15T>C
|
|
|
NM_001909.5(CTSD):c.973-18T>G
|
|
|
NM_001909.5(CTSD):c.973-20A>G
|
|
|
NM_001909.5(CTSD):c.973-7C>T
|
|
|
NM_001909.5(CTSD):c.973-8C>A
|
rs886048064
|
|
NM_001909.5(CTSD):c.973-9C>T
|
|
|
NM_001909.5(CTSD):c.976A>G (p.Met326Val)
|
rs1425884068
|
|
NM_001909.5(CTSD):c.97C>T (p.Arg33Cys)
|
|
|
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)
|
rs796052397
|
|
NM_001909.5(CTSD):c.984_985del (p.Pro328_Cys329insTer)
|
|
|
NM_001909.5(CTSD):c.98G>A (p.Arg33His)
|
|
|
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn)
|
rs1181418072
|
|
NM_001909.5(CTSD):c.996G>T (p.Val332=)
|
|
|
NM_001909.5(CTSD):c.999C>A (p.Ser333=)
|
rs755867394
|
|
NM_001909.5(CTSD):c.999C>T (p.Ser333=)
|
|
|
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)
|
rs63749905
|
|
NM_002087.4(GRN):c.-8+5G>A
|
|
|
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile)
|
|
|
NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr)
|
|
|
NM_002087.4(GRN):c.1006G>C (p.Glu336Gln)
|
|
|
NM_002087.4(GRN):c.1011G>C (p.Gln337His)
|
|
|
NM_002087.4(GRN):c.1019A>G (p.His340Arg)
|
rs775196555
|
|
NM_002087.4(GRN):c.101C>A (p.Pro34His)
|
|
|
NM_002087.4(GRN):c.1020C>T (p.His340=)
|
|
|
NM_002087.4(GRN):c.102del (p.Gly35fs)
|
rs63751073
|
|
NM_002087.4(GRN):c.1036_1038del (p.Glu346del)
|
rs751373342
|
|
NM_002087.4(GRN):c.1041G>A (p.Lys347=)
|
|
|
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)
|
|
|
NM_002087.4(GRN):c.1060C>T (p.Leu354=)
|
|
|
NM_002087.4(GRN):c.1071A>T (p.Pro357=)
|
rs765677842
|
|
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)
|
rs1555611293
|
|
NM_002087.4(GRN):c.1076C>T (p.Ala359Val)
|
|
|
NM_002087.4(GRN):c.108A>T (p.Gly36=)
|
|
|
NM_002087.4(GRN):c.1092C>T (p.Val364=)
|
|
|
NM_002087.4(GRN):c.1102_1104del (p.Asn368del)
|
|
|
NM_002087.4(GRN):c.110C>T (p.Ala37Val)
|
rs1248005591
|
|
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr)
|
|
|
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del)
|
rs754862784
|
|
NM_002087.4(GRN):c.1149T>A (p.Ser383=)
|
|
|
NM_002087.4(GRN):c.1152G>A (p.Gly384=)
|
|
|
NM_002087.4(GRN):c.1152G>T (p.Gly384=)
|
rs2143342232
|
|
NM_002087.4(GRN):c.1153del (p.Glu385fs)
|
rs2143342203
|
|
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)
|
|
|
NM_002087.4(GRN):c.1179+15del
|
|
|
NM_002087.4(GRN):c.1179+1G>C
|
|
|
NM_002087.4(GRN):c.1179+3A>G
|
|
|
NM_002087.4(GRN):c.1179+4_1179+8del
|
rs752440929
|
|
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)
|
|
|
NM_002087.4(GRN):c.1180-12C>T
|
|
|
NM_002087.4(GRN):c.1180-3del
|
|
|
NM_002087.4(GRN):c.1180-4C>A
|
|
|
NM_002087.4(GRN):c.1180-7C>G
|
rs1288562767
|
|
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)
|
|
|
NM_002087.4(GRN):c.1194G>A (p.Ser398=)
|
|
|
NM_002087.4(GRN):c.1204C>G (p.His402Asp)
|
|
|
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)
|
|
|
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter)
|
rs2143344360
|
|
NM_002087.4(GRN):c.1227G>T (p.Thr409=)
|
|
|
NM_002087.4(GRN):c.1227del (p.Cys410fs)
|
|
|
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)
|
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)
|
|
|
NM_002087.4(GRN):c.1259G>A (p.Ser420Asn)
|
|
|
NM_002087.4(GRN):c.1260C>G (p.Ser420Arg)
|
|
|
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys)
|
rs199934385
|
|
NM_002087.4(GRN):c.1266C>T (p.Ile422=)
|
|
|
NM_002087.4(GRN):c.1267G>A (p.Val423Met)
|
|
|
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)
|
|
|
NM_002087.4(GRN):c.1295G>A (p.Arg432His)
|
|
|
NM_002087.4(GRN):c.129T>C (p.Arg43=)
|
rs2143325907
|
|
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)
|
|
|
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)
|
|
|
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)
|
|
|
NM_002087.4(GRN):c.1326C>T (p.Ile442=)
|
rs748758630
|
|
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)
|
|
|
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)
|
|
|
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)
|
|
|
NM_002087.4(GRN):c.1344C>G (p.Thr448=)
|
|
|
NM_002087.4(GRN):c.1344C>T (p.Thr448=)
|
|
|
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg)
|
|
|
NM_002087.4(GRN):c.1353G>A (p.Pro451=)
|
|
|
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del)
|
|
|
NM_002087.4(GRN):c.1355T>A (p.Val452Glu)
|
rs759134554
|
|
NM_002087.4(GRN):c.1355T>C (p.Val452Ala)
|
|
|
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg)
|
rs63750537
|
|
NM_002087.4(GRN):c.1374G>A (p.Pro458=)
|
|
|
NM_002087.4(GRN):c.1374G>C (p.Pro458=)
|
|
|
NM_002087.4(GRN):c.138+13C>G
|
|
|
NM_002087.4(GRN):c.138+1G>A
|
rs63749844
|
|
NM_002087.4(GRN):c.139-10_139-7del
|
|
|
NM_002087.4(GRN):c.139-12C>G
|
|
|
NM_002087.4(GRN):c.139-13C>T
|
|
|
NM_002087.4(GRN):c.139-18T>C
|
|
|
NM_002087.4(GRN):c.1395C>T (p.Ala465=)
|
rs2143346048
|
|
NM_002087.4(GRN):c.139G>A (p.Asp47Asn)
|
rs1239690384
|
|
NM_002087.4(GRN):c.1413+20C>T
|
|
|
NM_002087.4(GRN):c.1413T>C (p.His471=)
|
|
|
NM_002087.4(GRN):c.1414-15_1591del
|
|
|
NM_002087.4(GRN):c.1414-2A>G
|
rs1555611412
|
|
NM_002087.4(GRN):c.1414-6C>T
|
|
|
NM_002087.4(GRN):c.1414-9C>T
|
|
|
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)
|
|
|
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)
|
|
|
NM_002087.4(GRN):c.1434C>T (p.Arg478=)
|
|
|
NM_002087.4(GRN):c.1464C>T (p.Cys488=)
|
rs1253276640
|
|
NM_002087.4(GRN):c.1467C>T (p.Asn489=)
|
|
|
NM_002087.4(GRN):c.1468G>A (p.Val490Met)
|
rs886053006
|
|
NM_002087.4(GRN):c.147G>C (p.Trp49Cys)
|
|
|
NM_002087.4(GRN):c.1482C>T (p.Ser494=)
|
|
|
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)
|
|
|
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)
|
|
|
NM_002087.4(GRN):c.1497G>A (p.Val499=)
|
rs375682522
|
|
NM_002087.4(GRN):c.1497G>C (p.Val499=)
|
rs375682522
|
|
NM_002087.4(GRN):c.1497G>T (p.Val499=)
|
|
|
NM_002087.4(GRN):c.1499T>C (p.Val500Ala)
|
rs1256051695
|
|
NM_002087.4(GRN):c.149C>T (p.Pro50Leu)
|
|
|
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala)
|
rs1313083314
|
|
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu)
|
|
|
NM_002087.4(GRN):c.1527C>T (p.Ala509=)
|
|
|
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)
|
|
|
NM_002087.4(GRN):c.1529G>A (p.Arg510His)
|
|
|
NM_002087.4(GRN):c.1548G>T (p.Val516=)
|
rs1044281109
|
|
NM_002087.4(GRN):c.1554C>T (p.Asp518=)
|
|
|
NM_002087.4(GRN):c.1560G>A (p.Glu520=)
|
|
|
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)
|
|
|
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)
|
|
|
NM_002087.4(GRN):c.1571G>T (p.Gly524Val)
|
|
|
NM_002087.4(GRN):c.1575C>T (p.His525=)
|
|
|
NM_002087.4(GRN):c.1578C>T (p.Phe526=)
|
rs2143348471
|
|
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn)
|
|
|
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser)
|
|
|
NM_002087.4(GRN):c.1603C>T (p.Arg535Ter)
|
|
|
NM_002087.4(GRN):c.1606G>A (p.Asp536Asn)
|
|
|
NM_002087.4(GRN):c.160A>G (p.Ser54Gly)
|
rs2143326730
|
|
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln)
|
|
|
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg)
|
|
|
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys)
|
|
|
NM_002087.4(GRN):c.1642C>T (p.Gln548Ter)
|
|
|
NM_002087.4(GRN):c.1644+10A>T
|
|
|
NM_002087.4(GRN):c.1644+13C>A
|
rs1219352976
|
|
NM_002087.4(GRN):c.1644+20C>T
|
|
|
NM_002087.4(GRN):c.1645-15C>G
|
rs1292365225
|
|
NM_002087.4(GRN):c.1645-17C>T
|
|
|
NM_002087.4(GRN):c.1645-19C>T
|
|
|
NM_002087.4(GRN):c.1645-20G>A
|
rs368901283
|
|
NM_002087.4(GRN):c.1645-20G>T
|
|
|
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)
|
|
|
NM_002087.4(GRN):c.1665G>T (p.Arg555=)
|
|
|
NM_002087.4(GRN):c.1669C>T (p.His557Tyr)
|
rs1415695846
|
|
NM_002087.4(GRN):c.1674C>T (p.Cys558=)
|
|
|
NM_002087.4(GRN):c.1683T>C (p.Ala561=)
|
|
|
NM_002087.4(GRN):c.1686C>T (p.Gly562=)
|
|
|
NM_002087.4(GRN):c.168T>C (p.His56=)
|
|
|
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)
|
|
|
NM_002087.4(GRN):c.1691G>A (p.Arg564His)
|
rs971443926
|
|
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)
|
|
|
NM_002087.4(GRN):c.1698A>C (p.Ala566=)
|
|
|
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)
|
|
|
NM_002087.4(GRN):c.1707T>C (p.Gly569=)
|
|
|
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)
|
|
|
NM_002087.4(GRN):c.170T>G (p.Leu57Arg)
|
rs545762769
|
|
NM_002087.4(GRN):c.1719G>A (p.Leu573=)
|
rs781110932
|
|
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)
|
|
|
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys)
|
|
|
NM_002087.4(GRN):c.1730C>T (p.Ala577Val)
|
|
|
NM_002087.4(GRN):c.1731C>T (p.Ala577=)
|
|
|
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)
|
|
|
NM_002087.4(GRN):c.1734G>A (p.Pro578=)
|
|
|
NM_002087.4(GRN):c.1743C>T (p.Asp581=)
|
rs1442769378
|
|
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)
|
|
|
NM_002087.4(GRN):c.1752G>A (p.Leu584=)
|
|
|
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)
|
|
|
NM_002087.4(GRN):c.1764C>T (p.Ala588=)
|
|
|
NM_002087.4(GRN):c.176G>C (p.Gly59Ala)
|
|
|
NM_002087.4(GRN):c.1770A>G (p.Arg590=)
|
|
|
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)
|
|
|
NM_002087.4(GRN):c.180dup (p.Cys61fs)
|
|
|
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)
|
|
|
NM_002087.4(GRN):c.186G>A (p.Gln62=)
|
|
|
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)
|
|
|
NM_002087.4(GRN):c.18C>T (p.Ser6=)
|
|
|
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)
|
|
|
NM_002087.4(GRN):c.198C>T (p.His66=)
|
|
|
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)
|
|
|
NM_002087.4(GRN):c.1A>G (p.Met1Val)
|
rs746037872
|
|
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)
|
|
|
NM_002087.4(GRN):c.207C>T (p.Ala69=)
|
|
|
NM_002087.4(GRN):c.212A>G (p.His71Arg)
|
|
|
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)
|
|
|
NM_002087.4(GRN):c.234_235del (p.Gly79fs)
|
rs63750373
|
|
NM_002087.4(GRN):c.240T>C (p.Thr80=)
|
rs748557876
|
|
NM_002087.4(GRN):c.243C>T (p.Ser81=)
|
|
|
NM_002087.4(GRN):c.24G>A (p.Val8=)
|
|
|
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)
|
|
|
NM_002087.4(GRN):c.258C>T (p.Phe86=)
|
|
|
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)
|
|
|
NM_002087.4(GRN):c.264+13T>C
|
|
|
NM_002087.4(GRN):c.264+1G>A
|
rs1567885728
|
|
NM_002087.4(GRN):c.264+1del
|
|
|
NM_002087.4(GRN):c.264+3G>T
|
|
|
NM_002087.4(GRN):c.264+6C>T
|
|
|
NM_002087.4(GRN):c.264+7G>C
|
|
|
NM_002087.4(GRN):c.265-13C>G
|
|
|
NM_002087.4(GRN):c.265-2A>T
|
|
|
NM_002087.4(GRN):c.265-2del
|
|
|
NM_002087.4(GRN):c.265-7T>C
|
|
|
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)
|
rs63751243
|
|
NM_002087.4(GRN):c.26C>T (p.Ala9Val)
|
|
|
NM_002087.4(GRN):c.277G>A (p.Gly93Arg)
|
|
|
NM_002087.4(GRN):c.278G>A (p.Gly93Glu)
|
|
|
NM_002087.4(GRN):c.285C>T (p.Gly95=)
|
|
|
NM_002087.4(GRN):c.291C>T (p.His97=)
|
|
|
NM_002087.4(GRN):c.295_308del (p.Cys99fs)
|
|
|
NM_002087.4(GRN):c.299del (p.Pro100fs)
|
rs2048353899
|
|
NM_002087.4(GRN):c.301C>A (p.Arg101=)
|
|
|
NM_002087.4(GRN):c.301C>T (p.Arg101Trp)
|
rs543578531
|
|
NM_002087.4(GRN):c.305G>A (p.Gly102Asp)
|
|
|
NM_002087.4(GRN):c.30A>C (p.Leu10Phe)
|
|
|
NM_002087.4(GRN):c.321A>C (p.Ala107=)
|
rs1459426505
|
|
NM_002087.4(GRN):c.324C>T (p.Asp108=)
|
|
|
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)
|
rs63750411
|
|
NM_002087.4(GRN):c.332C>T (p.Ser111Phe)
|
rs1354832051
|
|
NM_002087.4(GRN):c.339C>T (p.Phe113=)
|
|
|
NM_002087.4(GRN):c.348A>C (p.Ser116=)
|
|
|
NM_002087.4(GRN):c.349+11G>A
|
|
|
NM_002087.4(GRN):c.349+12G>C
|
|
|
NM_002087.4(GRN):c.349+15T>A
|
|
|
NM_002087.4(GRN):c.349+16G>C
|
rs901525268
|
|
NM_002087.4(GRN):c.349+18del
|
|
|
NM_002087.4(GRN):c.349+19T>C
|
|
|
NM_002087.4(GRN):c.349+1G>C
|
rs1598363083
|
|
NM_002087.4(GRN):c.350-13A>G
|
|
|
NM_002087.4(GRN):c.350-9T>C
|
|
|
NM_002087.4(GRN):c.350G>A (p.Gly117Asp)
|
rs758131649
|
|
NM_002087.4(GRN):c.351T>G (p.Gly117=)
|
rs2143331256
|
|
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del)
|
rs758168578
|
|
NM_002087.4(GRN):c.378C>T (p.Cys126=)
|
|
|
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)
|
|
|
NM_002087.4(GRN):c.383_386del (p.Asp128fs)
|
rs2048359069
|
|
NM_002087.4(GRN):c.388C>T (p.Gln130Ter)
|
|
|
NM_002087.4(GRN):c.388_391del (p.Gln130fs)
|
rs63749801
|
|
NM_002087.4(GRN):c.393C>A (p.Phe131Leu)
|
|
|
NM_002087.4(GRN):c.393C>T (p.Phe131=)
|
rs149180605
|
|
NM_002087.4(GRN):c.39dup (p.Leu14fs)
|
rs2143325096
|
|
NM_002087.4(GRN):c.401C>T (p.Pro134Leu)
|
|
|
NM_002087.4(GRN):c.406T>G (p.Phe136Val)
|
|
|
NM_002087.4(GRN):c.413C>T (p.Thr138Met)
|
|
|
NM_002087.4(GRN):c.414G>A (p.Thr138=)
|
rs543344476
|
|
NM_002087.4(GRN):c.414G>C (p.Thr138=)
|
rs543344476
|
|
NM_002087.4(GRN):c.423T>G (p.Val141=)
|
|
|
NM_002087.4(GRN):c.427G>T (p.Val143Phe)
|
rs1194653265
|
|
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer)
|
rs2143332050
|
|
NM_002087.4(GRN):c.462+13G>A
|
|
|
NM_002087.4(GRN):c.462+16A>G
|
|
|
NM_002087.4(GRN):c.462+20G>A
|
|
|
NM_002087.4(GRN):c.463-5C>G
|
rs1475553309
|
|
NM_002087.4(GRN):c.463-6dup
|
rs780699082
|
|
NM_002087.4(GRN):c.468_474del (p.Cys157fs)
|
rs63750247
|
|
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)
|
|
|
NM_002087.4(GRN):c.474T>C (p.Cys158=)
|
|
|
NM_002087.4(GRN):c.47C>T (p.Ala16Val)
|
|
|
NM_002087.4(GRN):c.487C>T (p.His163Tyr)
|
|
|
NM_002087.4(GRN):c.493T>C (p.Cys165Arg)
|
rs2143333047
|
|
NM_002087.4(GRN):c.50G>C (p.Gly17Ala)
|
|
|
NM_002087.4(GRN):c.520G>A (p.Val174Ile)
|
|
|
NM_002087.4(GRN):c.545C>G (p.Thr182Arg)
|
|
|
NM_002087.4(GRN):c.549C>T (p.Gly183=)
|
rs2143333571
|
|
NM_002087.4(GRN):c.554A>G (p.His185Arg)
|
|
|
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)
|
|
|
NM_002087.4(GRN):c.573C>T (p.Leu191=)
|
|
|
NM_002087.4(GRN):c.582G>A (p.Gln194=)
|
|
|
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)
|
|
|
NM_002087.4(GRN):c.592_593del (p.Arg198fs)
|
rs1555611136
|
|
NM_002087.4(GRN):c.599-10C>T
|
|
|
NM_002087.4(GRN):c.599-11T>A
|
|
|
NM_002087.4(GRN):c.599-18C>T
|
|
|
NM_002087.4(GRN):c.599-1G>A
|
rs1555611154
|
|
NM_002087.4(GRN):c.599-8T>C
|
|
|
NM_002087.4(GRN):c.5G>A (p.Trp2Ter)
|
|
|
NM_002087.4(GRN):c.614C>A (p.Ser205Ter)
|
rs777211749
|
|
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)
|
|
|
NM_002087.4(GRN):c.632C>T (p.Ala211Val)
|
|
|
NM_002087.4(GRN):c.636G>A (p.Arg212=)
|
|
|
NM_002087.4(GRN):c.640C>T (p.Arg214Trp)
|
|
|
NM_002087.4(GRN):c.641G>A (p.Arg214Gln)
|
rs1211576020
|
|
NM_002087.4(GRN):c.650A>T (p.Asp217Val)
|
|
|
NM_002087.4(GRN):c.657T>A (p.Ser219=)
|
|
|
NM_002087.4(GRN):c.657T>C (p.Ser219=)
|
|
|
NM_002087.4(GRN):c.658A>G (p.Thr220Ala)
|
rs63750683
|
|
NM_002087.4(GRN):c.660C>G (p.Thr220=)
|
rs1416699369
|
|
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)
|
|
|
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)
|
|
|
NM_002087.4(GRN):c.675_676del (p.Ser226fs)
|
rs63751085
|
|
NM_002087.4(GRN):c.680G>A (p.Gly227Glu)
|
|
|
NM_002087.4(GRN):c.685T>C (p.Tyr229His)
|
|
|
NM_002087.4(GRN):c.691T>C (p.Cys231Arg)
|
|
|
NM_002087.4(GRN):c.694T>C (p.Cys232Arg)
|
|
|
NM_002087.4(GRN):c.701T>G (p.Met234Arg)
|
rs2143335468
|
|
NM_002087.4(GRN):c.708+15G>A
|
rs765540363
|
|
NM_002087.4(GRN):c.708+1G>C
|
rs63749817
|
|
NM_002087.4(GRN):c.708+20C>T
|
|
|
NM_002087.4(GRN):c.708+2dup
|
rs2143335568
|
|
NM_002087.4(GRN):c.708+6_708+9del
|
rs778599933
|
|
NM_002087.4(GRN):c.709-2A>G
|
rs63750548
|
|
NM_002087.4(GRN):c.711del (p.Thr238fs)
|
|
|
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)
|
|
|
NM_002087.4(GRN):c.716G>T (p.Cys239Phe)
|
|
|
NM_002087.4(GRN):c.724G>C (p.Asp242His)
|
|
|
NM_002087.4(GRN):c.741C>T (p.Cys247=)
|
|
|
NM_002087.4(GRN):c.743C>T (p.Pro248Leu)
|
rs63750344
|
|
NM_002087.4(GRN):c.744C>G (p.Pro248=)
|
|
|
NM_002087.4(GRN):c.752C>G (p.Thr251Ser)
|
|
|
NM_002087.4(GRN):c.753T>C (p.Thr251=)
|
|
|
NM_002087.4(GRN):c.768_769dup (p.Gln257fs)
|
rs1567887004
|
|
NM_002087.4(GRN):c.773G>A (p.Ser258Asn)
|
rs63751000
|
|
NM_002087.4(GRN):c.775_778del (p.Lys259fs)
|
rs2143337849
|
|
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)
|
|
|
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)
|
|
|
NM_002087.4(GRN):c.784_787del (p.Ser262fs)
|
|
|
NM_002087.4(GRN):c.795C>T (p.Asn265=)
|
|
|
NM_002087.4(GRN):c.796G>A (p.Ala266Thr)
|
rs747362041
|
|
NM_002087.4(GRN):c.796G>C (p.Ala266Pro)
|
rs747362041
|
|
NM_002087.4(GRN):c.797C>T (p.Ala266Val)
|
|
|
NM_002087.4(GRN):c.808C>T (p.Leu270Phe)
|
rs1567887059
|
|
NM_002087.4(GRN):c.80dup (p.Val28fs)
|
rs1392550887
|
|
NM_002087.4(GRN):c.813_816del (p.Thr272fs)
|
rs63749877
|
|
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)
|
|
|
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)
|
|
|
NM_002087.4(GRN):c.828G>A (p.Ala276=)
|
|
|
NM_002087.4(GRN):c.835+1G>A
|
rs606231221
|
|
NM_002087.4(GRN):c.836-14T>G
|
|
|
NM_002087.4(GRN):c.836-19CT[2]
|
|
|
NM_002087.4(GRN):c.836-1G>C
|
rs63751296
|
|
NM_002087.4(GRN):c.836-5C>G
|
|
|
NM_002087.4(GRN):c.836-7C>T
|
rs1598364646
|
|
NM_002087.4(GRN):c.857T>C (p.Met286Thr)
|
|
|
NM_002087.4(GRN):c.86C>T (p.Ala29Val)
|
|
|
NM_002087.4(GRN):c.873A>G (p.Pro291=)
|
|
|
NM_002087.4(GRN):c.873A>T (p.Pro291=)
|
rs2143339424
|
|
NM_002087.4(GRN):c.879C>G (p.Gly293=)
|
rs764968816
|
|
NM_002087.4(GRN):c.87C>A (p.Ala29=)
|
|
|
NM_002087.4(GRN):c.87dup (p.Cys30fs)
|
rs794729672
|
|
NM_002087.4(GRN):c.882T>C (p.Tyr294=)
|
rs794729670
|
|
NM_002087.4(GRN):c.893G>A (p.Arg298His)
|
|
|
NM_002087.4(GRN):c.895C>T (p.Leu299=)
|
|
|
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)
|
rs1555611253
|
|
NM_002087.4(GRN):c.8C>G (p.Thr3Ser)
|
rs375939802
|
|
NM_002087.4(GRN):c.8C>T (p.Thr3Ile)
|
|
|
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)
|
|
|
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)
|
rs63751177
|
|
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)
|
|
|
NM_002087.4(GRN):c.933+10G>A
|
|
|
NM_002087.4(GRN):c.933+11del
|
|
|
NM_002087.4(GRN):c.933+16G>A
|
|
|
NM_002087.4(GRN):c.933+1G>A
|
rs63750707
|
|
NM_002087.4(GRN):c.933+5C>G
|
|
|
NM_002087.4(GRN):c.933+5C>T
|
|
|
NM_002087.4(GRN):c.933+7A>T
|
rs1598364800
|
|
NM_002087.4(GRN):c.934-11_936del
|
|
|
NM_002087.4(GRN):c.934-1G>A
|
rs2143340416
|
|
NM_002087.4(GRN):c.934-8del
|
rs1567887447
|
|
NM_002087.4(GRN):c.934-9C>T
|
|
|
NM_002087.4(GRN):c.935C>T (p.Ala312Val)
|
|
|
NM_002087.4(GRN):c.954C>T (p.His318=)
|
|
|
NM_002087.4(GRN):c.96G>C (p.Leu32=)
|
|
|
NM_002087.4(GRN):c.980C>T (p.Thr327Met)
|
|
|
NM_002087.4(GRN):c.991C>T (p.Gln331Ter)
|
rs1567887496
|
|
NM_002087.4(GRN):c.998G>T (p.Gly333Val)
|
|
|
NM_002087.4(GRN):c.99C>A (p.Asp33Glu)
|
rs63750742
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)
|
|
|
NM_003793.4(CTSF):c.1140C>G (p.Ser380=)
|
rs143674429
|
|
NM_003793.4(CTSF):c.1166-7A>G
|
|
|
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)
|
|
|
NM_003793.4(CTSF):c.1231-13_1231-11del
|
|
|
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)
|
|
|
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)
|
|
|
NM_003793.4(CTSF):c.1296G>A (p.Ala432=)
|
|
|
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)
|
|
|
NM_003793.4(CTSF):c.1321+9C>T
|
|
|
NM_003793.4(CTSF):c.1322-14G>A
|
|
|
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)
|
|
|
NM_003793.4(CTSF):c.1350del (p.Asn451fs)
|
rs1565311637
|
|
NM_003793.4(CTSF):c.1380+13G>A
|
|
|
NM_003793.4(CTSF):c.1380+19del
|
|
|
NM_003793.4(CTSF):c.160C>A (p.Arg54=)
|
rs776443007
|
|
NM_003793.4(CTSF):c.171G>C (p.Gly57=)
|
|
|
NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup)
|
rs772656687
|
|
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)
|
|
|
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)
|
|
|
NM_003793.4(CTSF):c.258G>A (p.Glu86=)
|
|
|
NM_003793.4(CTSF):c.280G>A (p.Val94Met)
|
|
|
NM_003793.4(CTSF):c.342C>G (p.Leu114=)
|
|
|
NM_003793.4(CTSF):c.42C>G (p.Leu14=)
|
|
|
NM_003793.4(CTSF):c.450T>C (p.Ser150=)
|
|
|
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)
|
|
|
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)
|
rs758004789
|
|
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln)
|
rs142782021
|
|
NM_003793.4(CTSF):c.614G>T (p.Arg205Leu)
|
rs142782021
|
|
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)
|
|
|
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)
|
|
|
NM_003793.4(CTSF):c.722-4G>A
|
|
|
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)
|
|
|
NM_003793.4(CTSF):c.867+8C>T
|
|
|
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)
|
|
|
NM_003793.4(CTSF):c.933C>T (p.Asn311=)
|
|
|
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala)
|
rs1857917135
|
|
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)
|
|
|
NM_003793.4(CTSF):c.972G>A (p.Leu324=)
|
|
|
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn)
|
rs750069810
|
|
NM_003793.4(CTSF):c.992del (p.Lys331fs)
|
|
|
NM_006493.2(CLN5):c.101C>A (p.Pro34Gln)
|
|
|
NM_006493.2(CLN5):c.102G>A (p.Pro34=)
|
|
|
NM_006493.2(CLN5):c.102G>C (p.Pro34=)
|
|
|
NM_006493.2(CLN5):c.104C>T (p.Ala35Val)
|
|
|
NM_006493.2(CLN5):c.107C>A (p.Ser36Ter)
|
|
|
NM_006493.2(CLN5):c.107C>T (p.Ser36Leu)
|
|
|
NM_006493.2(CLN5):c.10A>T (p.Asn4Tyr)
|
rs1336864663
|
|
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)
|
|
|
NM_006493.2(CLN5):c.111G>A (p.Gln37=)
|
rs1593906853
|
|
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)
|
rs61504484
|
|
NM_006493.2(CLN5):c.117G>A (p.Ser39=)
|
|
|
NM_006493.2(CLN5):c.120A>G (p.Arg40=)
|
|
|
NM_006493.2(CLN5):c.129A>G (p.Gly43=)
|
|
|
NM_006493.2(CLN5):c.15G>C (p.Leu5=)
|
|
|
NM_006493.2(CLN5):c.16C>A (p.Arg6Ser)
|
|
|
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu)
|
rs1391354551
|
|
NM_006493.2(CLN5):c.19T>C (p.Leu7=)
|
|
|
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)
|
|
|
NM_006493.2(CLN5):c.24G>T (p.Gly8=)
|
|
|
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)
|
|
|
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)
|
rs201615354
|
|
NM_006493.2(CLN5):c.31T>A (p.Ser11Thr)
|
|
|
NM_006493.2(CLN5):c.31T>G (p.Ser11Ala)
|
|
|
NM_006493.2(CLN5):c.32C>G (p.Ser11Cys)
|
|
|
NM_006493.2(CLN5):c.33T>C (p.Ser11=)
|
|
|
NM_006493.2(CLN5):c.36A>C (p.Gly12=)
|
|
|
NM_006493.2(CLN5):c.39T>C (p.Ala13=)
|
|
|
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu)
|
rs1259746826
|
|
NM_006493.2(CLN5):c.45G>A (p.Ala15=)
|
|
|
NM_006493.2(CLN5):c.45G>C (p.Ala15=)
|
|
|
NM_006493.2(CLN5):c.48G>A (p.Gln16=)
|
|
|
NM_006493.2(CLN5):c.50G>A (p.Gly17Glu)
|
rs769990158
|
|
NM_006493.2(CLN5):c.51G>A (p.Gly17=)
|
|
|
NM_006493.2(CLN5):c.51G>C (p.Gly17=)
|
rs763032153
|
|
NM_006493.2(CLN5):c.51G>T (p.Gly17=)
|
|
|
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys)
|
rs773979248
|
|
NM_006493.2(CLN5):c.53A>G (p.Gln18Arg)
|
rs1287993760
|
|
NM_006493.2(CLN5):c.54A>C (p.Gln18His)
|
|
|
NM_006493.2(CLN5):c.64C>G (p.Arg22Gly)
|
|
|
NM_006493.2(CLN5):c.64C>T (p.Arg22Cys)
|
rs558597827
|
|
NM_006493.2(CLN5):c.6C>G (p.Arg2=)
|
|
|
NM_006493.2(CLN5):c.78G>A (p.Ala26=)
|
|
|
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser)
|
|
|
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp)
|
rs762873839
|
|
NM_006493.4(CLN5):c.-10G>C
|
rs1470454519
|
|
NM_006493.4(CLN5):c.-11G>A
|
rs774598730
|
|
NM_006493.4(CLN5):c.-13T>C
|
rs2034184700
|
|
NM_006493.4(CLN5):c.-1G>C
|
rs2154034238
|
|
NM_006493.4(CLN5):c.-23C>T
|
rs949213778
|
|
NM_006493.4(CLN5):c.-3C>T
|
rs1593906921
|
|
NM_006493.4(CLN5):c.-75C>G
|
rs754544785
|
|
NM_006493.4(CLN5):c.-7C>T
|
|
|
NM_006493.4(CLN5):c.-86C>G
|
rs988786332
|
|
NM_006493.4(CLN5):c.-94A>T
|
rs767480061
|
|
NM_006493.4(CLN5):c.-96C>G
|
rs773979248
|
|
NM_006493.4(CLN5):c.-97del
|
rs765323914
|
|
NM_006493.4(CLN5):c.-99G>A
|
rs202118652
|
|
NM_006493.4(CLN5):c.1000A>G (p.Met334Val)
|
rs747998609
|
|
NM_006493.4(CLN5):c.1009C>G (p.Pro337Ala)
|
|
|
NM_006493.4(CLN5):c.1014del (p.Phe338fs)
|
|
|
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
|
|
|
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
|
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006493.4(CLN5):c.1038C>A (p.Ile346=)
|
|
|
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Pro347_Leu348=)
|
|
|
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly)
|
rs2154035217
|
|
NM_006493.4(CLN5):c.1053A>G (p.Arg351=)
|
|
|
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
|
|
|
NM_006493.4(CLN5):c.105C>G (p.Leu35=)
|
|
|
NM_006493.4(CLN5):c.1065C>A (p.Leu355=)
|
rs1593915385
|
|
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs)
|
rs796052345
|
|
NM_006493.4(CLN5):c.1072T>C (p.Leu358=)
|
rs2154035221
|
|
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe)
|
rs1555274416
|
|
NM_006493.4(CLN5):c.107C>T (p.Ala36Val)
|
rs2154034272
|
|
NM_006493.4(CLN5):c.109del (p.Val37fs)
|
|
|
NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs)
|
rs1555273604
|
|
NM_006493.4(CLN5):c.112del (p.Val38fs)
|
rs2034190303
|
|
NM_006493.4(CLN5):c.114T>A (p.Val38=)
|
|
|
NM_006493.4(CLN5):c.114T>C (p.Val38=)
|
rs1453178211
|
|
NM_006493.4(CLN5):c.116C>T (p.Pro39Leu)
|
rs1285996011
|
|
NM_006493.4(CLN5):c.118G>C (p.Gly40Arg)
|
rs748399349
|
|
NM_006493.4(CLN5):c.11A>C (p.Glu4Ala)
|
|
|
NM_006493.4(CLN5):c.127C>T (p.Arg43Trp)
|
rs1213074445
|
|
NM_006493.4(CLN5):c.128G>A (p.Arg43Gln)
|
rs1282649970
|
|
NM_006493.4(CLN5):c.129G>C (p.Arg43=)
|
|
|
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp)
|
|
|
NM_006493.4(CLN5):c.132C>T (p.Val44=)
|
|
|
NM_006493.4(CLN5):c.134C>T (p.Ser45Leu)
|
|
|
NM_006493.4(CLN5):c.135G>A (p.Ser45=)
|
|
|
NM_006493.4(CLN5):c.141C>A (p.Ile47=)
|
rs2034191533
|
|
NM_006493.4(CLN5):c.141C>T (p.Ile47=)
|
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006493.4(CLN5):c.147C>T (p.Ser49=)
|
|
|
NM_006493.4(CLN5):c.149G>A (p.Arg50Gln)
|
|
|
NM_006493.4(CLN5):c.150G>C (p.Arg50=)
|
rs2034192027
|
|
NM_006493.4(CLN5):c.150G>T (p.Arg50=)
|
|
|
NM_006493.4(CLN5):c.153C>G (p.Arg51=)
|
rs909356586
|
|
NM_006493.4(CLN5):c.155_167del (p.His52fs)
|
rs1057517134
|
|
NM_006493.4(CLN5):c.156C>T (p.His52=)
|
|
|
NM_006493.4(CLN5):c.15A>G (p.Val5=)
|
rs2034185809
|
|
NM_006493.4(CLN5):c.162G>A (p.Pro54=)
|
rs754303449
|
|
NM_006493.4(CLN5):c.165G>A (p.Val55=)
|
|
|
NM_006493.4(CLN5):c.168del (p.Tyr57fs)
|
rs2154034292
|
|
NM_006493.4(CLN5):c.170A>G (p.Tyr57Cys)
|
|
|
NM_006493.4(CLN5):c.172A>G (p.Lys58Glu)
|
|
|
NM_006493.4(CLN5):c.173+11C>T
|
|
|
NM_006493.4(CLN5):c.173+12G>A
|
|
|
NM_006493.4(CLN5):c.173+12G>C
|
rs781182241
|
|
NM_006493.4(CLN5):c.173+13G>T
|
|
|
NM_006493.4(CLN5):c.173+13GC[6]
|
rs751801723
|
|
NM_006493.4(CLN5):c.173+15G>C
|
|
|
NM_006493.4(CLN5):c.173+16C>T
|
|
|
NM_006493.4(CLN5):c.173+1G>A
|
|
|
NM_006493.4(CLN5):c.173+1G>T
|
rs1739482158
|
|
NM_006493.4(CLN5):c.173+20C>T
|
|
|
NM_006493.4(CLN5):c.173+5G>A
|
rs2034192763
|
|
NM_006493.4(CLN5):c.173+7GCG[2]
|
rs2154034294
|
|
NM_006493.4(CLN5):c.173+9G>A
|
rs931635211
|
|
NM_006493.4(CLN5):c.173+9G>C
|
|
|
NM_006493.4(CLN5):c.173+9G>T
|
rs931635211
|
|
NM_006493.4(CLN5):c.174-19G>A
|
|
|
NM_006493.4(CLN5):c.174-20G>A
|
|
|
NM_006493.4(CLN5):c.174-3del
|
rs777686161
|
|
NM_006493.4(CLN5):c.174-5A>G
|
|
|
NM_006493.4(CLN5):c.174-6T>C
|
rs2154034620
|
|
NM_006493.4(CLN5):c.174-8_174-6del
|
|
|
NM_006493.4(CLN5):c.174-9_174-6del
|
|
|
NM_006493.4(CLN5):c.175C>A (p.Arg59Ser)
|
rs765773686
|
|
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)
|
rs765773686
|
|
NM_006493.4(CLN5):c.176G>T (p.Arg59Leu)
|
rs753197537
|
|
NM_006493.4(CLN5):c.187del (p.Arg63fs)
|
rs1555273881
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
|
|
|
NM_006493.4(CLN5):c.189T>C (p.Arg63=)
|
rs2154034624
|
|
NM_006493.4(CLN5):c.192A>G (p.Pro64=)
|
|
|
NM_006493.4(CLN5):c.19A>T (p.Thr7Ser)
|
rs541501705
|
|
NM_006493.4(CLN5):c.203C>T (p.Pro68Leu)
|
rs2154034626
|
|
NM_006493.4(CLN5):c.204T>G (p.Pro68=)
|
rs2154034627
|
|
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)
|
rs2034242246
|
|
NM_006493.4(CLN5):c.213A>G (p.Gln71=)
|
|
|
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
|
|
|
NM_006493.4(CLN5):c.215C>T (p.Ala72Val)
|
rs2154034628
|
|
NM_006493.4(CLN5):c.216del (p.Lys73fs)
|
|
|
NM_006493.4(CLN5):c.21G>A (p.Thr7=)
|
rs1057521258
|
|
NM_006493.4(CLN5):c.21G>C (p.Thr7=)
|
rs1057521258
|
|
NM_006493.4(CLN5):c.222T>C (p.Tyr74=)
|
rs1389509356
|
|
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile)
|
rs376336781
|
|
NM_006493.4(CLN5):c.228C>T (p.Phe76=)
|
|
|
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser)
|
rs2034242824
|
|
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)
|
rs267606738
|
|
NM_006493.4(CLN5):c.231T>C (p.Cys77=)
|
|
|
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
|
|
|
NM_006493.4(CLN5):c.240C>T (p.Gly80=)
|
|
|
NM_006493.4(CLN5):c.242C>A (p.Ser81Ter)
|
|
|
NM_006493.4(CLN5):c.244C>T (p.Pro82Ser)
|
|
|
NM_006493.4(CLN5):c.248T>C (p.Ile83Thr)
|
|
|
NM_006493.4(CLN5):c.248T>G (p.Ile83Ser)
|
rs2034243356
|
|
NM_006493.4(CLN5):c.24A>C (p.Ala8=)
|
rs757756318
|
|
NM_006493.4(CLN5):c.251_252del (p.Pro84fs)
|
rs2154034636
|
|
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu)
|
rs898862493
|
|
NM_006493.4(CLN5):c.270T>C (p.Asp90=)
|
rs898862493
|
|
NM_006493.4(CLN5):c.279A>T (p.Glu93Asp)
|
rs2154034642
|
|
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)
|
rs201068201
|
|
NM_006493.4(CLN5):c.287G>T (p.Arg96Leu)
|
|
|
NM_006493.4(CLN5):c.289T>C (p.Leu97=)
|
|
|
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe)
|
rs2154034643
|
|
NM_006493.4(CLN5):c.303A>G (p.Val101=)
|
|
|
NM_006493.4(CLN5):c.303A>T (p.Val101=)
|
rs2154034645
|
|
NM_006493.4(CLN5):c.30C>A (p.Gly10=)
|
rs756651200
|
|
NM_006493.4(CLN5):c.30C>G (p.Gly10=)
|
|
|
NM_006493.4(CLN5):c.312T>C (p.Phe104=)
|
|
|
NM_006493.4(CLN5):c.321A>G (p.Gly107=)
|
|
|
NM_006493.4(CLN5):c.327C>A (p.Leu109=)
|
|
|
NM_006493.4(CLN5):c.335A>T (p.His112Leu)
|
|
|
NM_006493.4(CLN5):c.336C>G (p.His112Gln)
|
rs2034245418
|
|
NM_006493.4(CLN5):c.336C>T (p.His112=)
|
rs2034245418
|
|
NM_006493.4(CLN5):c.337T>C (p.Leu113=)
|
|
|
NM_006493.4(CLN5):c.339+13C>T
|
rs2154034651
|
|
NM_006493.4(CLN5):c.339+15T>C
|
|
|
NM_006493.4(CLN5):c.339+17G>A
|
|
|
NM_006493.4(CLN5):c.339+19C>A
|
|
|
NM_006493.4(CLN5):c.339+1G>A
|
|
|
NM_006493.4(CLN5):c.339+1G>T
|
|
|
NM_006493.4(CLN5):c.339+7A>G
|
|
|
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe)
|
rs147214555
|
|
NM_006493.4(CLN5):c.33C>G (p.Ala11=)
|
rs530381028
|
|
NM_006493.4(CLN5):c.33C>T (p.Ala11=)
|
|
|
NM_006493.4(CLN5):c.340-12G>A
|
rs1416088608
|
|
NM_006493.4(CLN5):c.340-1G>C
|
|
|
NM_006493.4(CLN5):c.340-1del
|
rs1057516390
|
|
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
|
|
|
NM_006493.4(CLN5):c.340-8T>C
|
rs2154034704
|
|
NM_006493.4(CLN5):c.347T>C (p.Met116Thr)
|
rs2154034705
|
|
NM_006493.4(CLN5):c.351T>C (p.His117=)
|
|
|
NM_006493.4(CLN5):c.354T>C (p.Asp118=)
|
|
|
NM_006493.4(CLN5):c.358A>G (p.Ile120Val)
|
rs1231886495
|
|
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
|
|
|
NM_006493.4(CLN5):c.375A>G (p.Thr125=)
|
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.37A>G (p.Met13Val)
|
|
|
NM_006493.4(CLN5):c.381T>A (p.Thr127=)
|
rs34481987
|
|
NM_006493.4(CLN5):c.387G>A (p.Lys129=)
|
|
|
NM_006493.4(CLN5):c.38T>C (p.Met13Thr)
|
rs1007145426
|
|
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
|
|
|
NM_006493.4(CLN5):c.393C>T (p.Tyr131=)
|
|
|
NM_006493.4(CLN5):c.395C>T (p.Thr132Ile)
|
rs1305273453
|
|
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)
|
rs1419308949
|
|
NM_006493.4(CLN5):c.404G>A (p.Trp135Ter)
|
rs2154034716
|
|
NM_006493.4(CLN5):c.411A>G (p.Glu137=)
|
|
|
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
|
|
|
NM_006493.4(CLN5):c.426C>G (p.Gly142=)
|
rs2034259868
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)
|
|
|
NM_006493.4(CLN5):c.438del (p.His148fs)
|
rs1555273992
|
|
NM_006493.4(CLN5):c.43C>T (p.Arg15Trp)
|
rs772949539
|
|
NM_006493.4(CLN5):c.441C>G (p.Pro147=)
|
|
|
NM_006493.4(CLN5):c.441_442dup (p.His148fs)
|
|
|
NM_006493.4(CLN5):c.442C>T (p.His148Tyr)
|
rs752563013
|
|
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)
|
rs386833976
|
|
NM_006493.4(CLN5):c.447C>T (p.Leu149=)
|
rs1593911107
|
|
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln)
|
rs1014000261
|
|
NM_006493.4(CLN5):c.450A>G (p.Arg150=)
|
|
|
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser)
|
rs777080820
|
|
NM_006493.4(CLN5):c.45G>C (p.Arg15=)
|
|
|
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
|
|
|
NM_006493.4(CLN5):c.462T>C (p.Asp154=)
|
rs2154034733
|
|
NM_006493.4(CLN5):c.464C>T (p.Ala155Val)
|
rs2154034734
|
|
NM_006493.4(CLN5):c.465C>T (p.Ala155=)
|
rs1480870613
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.46G>A (p.Gly16Ser)
|
|
|
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)
|
rs2154034738
|
|
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])
|
rs1409904698
|
|
NM_006493.4(CLN5):c.480T>C (p.Asn160=)
|
|
|
NM_006493.4(CLN5):c.486C>A (p.Gly162=)
|
|
|
NM_006493.4(CLN5):c.486C>G (p.Gly162=)
|
|
|
NM_006493.4(CLN5):c.489T>C (p.Ala163=)
|
rs1593911173
|
|
NM_006493.4(CLN5):c.48C>A (p.Gly16=)
|
|
|
NM_006493.4(CLN5):c.48C>G (p.Gly16=)
|
|
|
NM_006493.4(CLN5):c.48C>T (p.Gly16=)
|
rs1448304779
|
|
NM_006493.4(CLN5):c.492C>T (p.Ala164=)
|
|
|
NM_006493.4(CLN5):c.495C>T (p.Cys165=)
|
rs2034262211
|
|
NM_006493.4(CLN5):c.498T>C (p.Phe166=)
|
|
|
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser)
|
rs1393893027
|
|
NM_006493.4(CLN5):c.513T>C (p.Asp171=)
|
|
|
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
|
|
|
NM_006493.4(CLN5):c.51G>A (p.Ala17=)
|
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)
|
|
|
NM_006493.4(CLN5):c.534T>C (p.Asn178=)
|
rs1368956736
|
|
NM_006493.4(CLN5):c.535G>T (p.Gly179Trp)
|
rs2034263363
|
|
NM_006493.4(CLN5):c.544G>A (p.Val182Ile)
|
rs1064795474
|
|
NM_006493.4(CLN5):c.54C>T (p.Gly18=)
|
|
|
NM_006493.4(CLN5):c.550G>A (p.Val184Ile)
|
rs1566219289
|
|
NM_006493.4(CLN5):c.555A>G (p.Ala185=)
|
rs1422278737
|
|
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
|
|
|
NM_006493.4(CLN5):c.565+10G>A
|
|
|
NM_006493.4(CLN5):c.565+17T>C
|
|
|
NM_006493.4(CLN5):c.565+19G>C
|
rs756731673
|
|
NM_006493.4(CLN5):c.565+7del
|
rs2154034753
|
|
NM_006493.4(CLN5):c.566-14T>C
|
|
|
NM_006493.4(CLN5):c.566-15G>A
|
|
|
NM_006493.4(CLN5):c.566-15G>T
|
|
|
NM_006493.4(CLN5):c.566-15_566-11del
|
rs771601428
|
|
NM_006493.4(CLN5):c.566-20_566-19insA
|
|
|
NM_006493.4(CLN5):c.566-7A>C
|
|
|
NM_006493.4(CLN5):c.566-7A>G
|
rs772501269
|
|
NM_006493.4(CLN5):c.566-8T>A
|
rs2154035102
|
|
NM_006493.4(CLN5):c.566-8dup
|
rs760343764
|
|
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
|
|
|
NM_006493.4(CLN5):c.573G>A (p.Met191Ile)
|
rs2034339154
|
|
NM_006493.4(CLN5):c.574T>G (p.Phe192Val)
|
rs1555274325
|
|
NM_006493.4(CLN5):c.576C>T (p.Phe192=)
|
|
|
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter)
|
rs2154035107
|
|
NM_006493.4(CLN5):c.587C>T (p.Ala196Val)
|
rs2034339472
|
|
NM_006493.4(CLN5):c.588A>G (p.Ala196=)
|
|
|
NM_006493.4(CLN5):c.591G>A (p.Lys197=)
|
rs1402613512
|
|
NM_006493.4(CLN5):c.597G>A (p.Val199=)
|
rs2154035110
|
|
NM_006493.4(CLN5):c.599_600insCA (p.Lys200fs)
|
rs2154035111
|
|
NM_006493.4(CLN5):c.59C>T (p.Ala20Val)
|
|
|
NM_006493.4(CLN5):c.606C>T (p.Asp202=)
|
rs2154035112
|
|
NM_006493.4(CLN5):c.606_618del (p.Asp202fs)
|
|
|
NM_006493.4(CLN5):c.609T>C (p.Asn203=)
|
|
|
NM_006493.4(CLN5):c.615A>G (p.Thr205=)
|
rs769662577
|
|
NM_006493.4(CLN5):c.623_627del (p.Ile207_Tyr208insTer)
|
|
|
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)
|
rs386833981
|
|
NM_006493.4(CLN5):c.627T>G (p.Tyr209Ter)
|
rs763980789
|
|
NM_006493.4(CLN5):c.62G>A (p.Arg21Gln)
|
rs2034188293
|
|
NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)
|
|
|
NM_006493.4(CLN5):c.639T>C (p.Asn213=)
|
|
|
NM_006493.4(CLN5):c.63G>A (p.Arg21=)
|
rs1338752072
|
|
NM_006493.4(CLN5):c.63G>C (p.Arg21=)
|
rs1338752072
|
|
NM_006493.4(CLN5):c.653dup (p.Glu219fs)
|
|
|
NM_006493.4(CLN5):c.65G>A (p.Gly22Glu)
|
rs2034188434
|
|
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg)
|
rs755669847
|
|
NM_006493.4(CLN5):c.666A>G (p.Ala222=)
|
rs1471280655
|
|
NM_006493.4(CLN5):c.669G>A (p.Glu223=)
|
|
|
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.679del (p.Asp227fs)
|
rs2154035131
|
|
NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter)
|
|
|
NM_006493.4(CLN5):c.69C>A (p.Arg23=)
|
|
|
NM_006493.4(CLN5):c.69C>T (p.Arg23=)
|
|
|
NM_006493.4(CLN5):c.6G>T (p.Ala2=)
|
|
|
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu)
|
rs1593914834
|
|
NM_006493.4(CLN5):c.704T>C (p.Val235Ala)
|
rs535755345
|
|
NM_006493.4(CLN5):c.705G>T (p.Val235=)
|
|
|
NM_006493.4(CLN5):c.705_706del (p.Leu236fs)
|
rs1555274343
|
|
NM_006493.4(CLN5):c.713_720del (p.Thr238fs)
|
rs1555274344
|
|
NM_006493.4(CLN5):c.714C>G (p.Thr238=)
|
rs762726568
|
|
NM_006493.4(CLN5):c.720C>T (p.Asn240=)
|
rs2154035139
|
|
NM_006493.4(CLN5):c.729T>C (p.Ala243=)
|
rs1349247735
|
|
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)
|
|
|
NM_006493.4(CLN5):c.743_744dup (p.Phe249fs)
|
|
|
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
|
|
|
NM_006493.4(CLN5):c.751A>G (p.Asn251Asp)
|
|
|
NM_006493.4(CLN5):c.756A>G (p.Ile252Met)
|
|
|
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln)
|
rs1232560552
|
|
NM_006493.4(CLN5):c.75C>G (p.Ser25=)
|
rs2154034259
|
|
NM_006493.4(CLN5):c.762C>G (p.Thr254=)
|
rs1195593976
|
|
NM_006493.4(CLN5):c.762C>T (p.Thr254=)
|
|
|
NM_006493.4(CLN5):c.764dup (p.Asn255fs)
|
|
|
NM_006493.4(CLN5):c.768T>C (p.Tyr256=)
|
|
|
NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)
|
|
|
NM_006493.4(CLN5):c.771A>G (p.Thr257=)
|
rs2154035148
|
|
NM_006493.4(CLN5):c.772del (p.Arg258fs)
|
rs386833982
|
|
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)
|
rs376675270
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser)
|
rs764790770
|
|
NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter)
|
|
|
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)
|
rs730882146
|
|
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)
|
rs104894385
|
|
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)
|
rs764495616
|
|
NM_006493.4(CLN5):c.798T>C (p.Pro266=)
|
rs2034345081
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.812del (p.Asn271fs)
|
rs2154035159
|
|
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
|
|
|
NM_006493.4(CLN5):c.827_828del (p.Phe276fs)
|
rs2154035166
|
|
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)
|
rs1555274365
|
|
NM_006493.4(CLN5):c.83G>A (p.Trp28Ter)
|
rs1242337070
|
|
NM_006493.4(CLN5):c.844_845dup (p.Thr283fs)
|
rs2034346369
|
|
NM_006493.4(CLN5):c.849T>C (p.Thr283=)
|
|
|
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)
|
rs200348035
|
|
NM_006493.4(CLN5):c.84_96dup (p.Leu33fs)
|
rs1271064370
|
|
NM_006493.4(CLN5):c.861C>T (p.Ala287=)
|
rs2154035176
|
|
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
|
|
|
NM_006493.4(CLN5):c.867A>G (p.Lys289=)
|
rs2154035177
|
|
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
|
|
|
NM_006493.4(CLN5):c.87C>T (p.Ala29=)
|
|
|
NM_006493.4(CLN5):c.882dup (p.Phe295fs)
|
|
|
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu)
|
rs772050001
|
|
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
|
|
|
NM_006493.4(CLN5):c.891A>G (p.Pro297=)
|
rs2154035180
|
|
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn)
|
rs1298505272
|
|
NM_006493.4(CLN5):c.903T>C (p.Thr301=)
|
rs1161385670
|
|
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)
|
rs121908292
|
|
NM_006493.4(CLN5):c.913_914del (p.Leu305fs)
|
rs2154035183
|
|
NM_006493.4(CLN5):c.915G>T (p.Leu305=)
|
|
|
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)
|
rs1555274373
|
|
NM_006493.4(CLN5):c.921T>C (p.Ser307=)
|
|
|
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)
|
rs386833964
|
|
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu)
|
|
|
NM_006493.4(CLN5):c.92C>A (p.Ala31Glu)
|
rs766858440
|
|
NM_006493.4(CLN5):c.92C>T (p.Ala31Val)
|
|
|
NM_006493.4(CLN5):c.936T>G (p.Phe312Leu)
|
rs2154035192
|
|
NM_006493.4(CLN5):c.936del (p.Phe312fs)
|
rs386833966
|
|
NM_006493.4(CLN5):c.93G>T (p.Ala31=)
|
rs971404954
|
|
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser)
|
|
|
NM_006493.4(CLN5):c.94C>T (p.Leu32=)
|
|
|
NM_006493.4(CLN5):c.951G>A (p.Val317=)
|
rs369238431
|
|
NM_006493.4(CLN5):c.954C>T (p.His318=)
|
|
|
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu)
|
rs202171514
|
|
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg)
|
rs2034348880
|
|
NM_006493.4(CLN5):c.956_957del (p.Lys319fs)
|
rs2154035196
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
NM_006493.4(CLN5):c.957A>G (p.Lys319=)
|
rs1422809171
|
|
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
|
|
|
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
|
rs750935331
|
|
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
|
|
|
NM_006493.4(CLN5):c.963C>T (p.Phe321=)
|
rs756149425
|
|
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs)
|
rs2034349431
|
|
NM_006493.4(CLN5):c.969G>A (p.Leu323=)
|
|
|
NM_006493.4(CLN5):c.96G>A (p.Leu32=)
|
rs2154034270
|
|
NM_006493.4(CLN5):c.96G>T (p.Leu32=)
|
rs2154034270
|
|
NM_006493.4(CLN5):c.975T>C (p.Tyr325=)
|
|
|
NM_006493.4(CLN5):c.978T>C (p.Asn326=)
|
rs2154035200
|
|
NM_006493.4(CLN5):c.982G>T (p.Glu328Ter)
|
rs2154035204
|
|
NM_006493.4(CLN5):c.984A>G (p.Glu328=)
|
rs1593915252
|
|
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)
|
rs2034349886
|
|
NM_006493.4(CLN5):c.989G>A (p.Trp330Ter)
|
|
|
NM_006493.4(CLN5):c.98T>A (p.Leu33His)
|
|
|
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)
|
rs386833968
|
|
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)
|
rs386833968
|
|
NM_017882.3(CLN6):c.105T>C (p.Asp35=)
|
|
|
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp)
|
rs1226528243
|
|
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
|
|
|
NM_017882.3(CLN6):c.114C>T (p.Ala38=)
|
rs1219136331
|
|
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly)
|
rs142260866
|
|
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys)
|
rs142260866
|
|
NM_017882.3(CLN6):c.116G>A (p.Arg39His)
|
rs779456928
|
|
NM_017882.3(CLN6):c.117C>A (p.Arg39=)
|
|
|
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys)
|
rs769199442
|
|
NM_017882.3(CLN6):c.119C>T (p.Thr40Met)
|
rs769199442
|
|
NM_017882.3(CLN6):c.121del (p.Ala41fs)
|
rs2141145116
|
|
NM_017882.3(CLN6):c.123T>A (p.Ala41=)
|
rs2141145111
|
|
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala)
|
rs1003606439
|
|
NM_017882.3(CLN6):c.12G>A (p.Thr4=)
|
|
|
NM_017882.3(CLN6):c.132C>T (p.His44=)
|
|
|
NM_017882.3(CLN6):c.135C>A (p.Leu45=)
|
|
|
NM_017882.3(CLN6):c.135C>T (p.Leu45=)
|
rs374577694
|
|
NM_017882.3(CLN6):c.138C>T (p.Asp46=)
|
rs1595821372
|
|
NM_017882.3(CLN6):c.13C>A (p.Arg5=)
|
rs886285802
|
|
NM_017882.3(CLN6):c.141C>T (p.Leu47=)
|
|
|
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
|
|
|
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter)
|
rs2141145071
|
|
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln)
|
rs2093262797
|
|
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg)
|
rs2093226926
|
|
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr)
|
|
|
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)
|
|
|
NM_017882.3(CLN6):c.180_181del (p.Phe60fs)
|
|
|
NM_017882.3(CLN6):c.180dup (p.Gly61fs)
|
|
|
NM_017882.3(CLN6):c.183del (p.Arg62fs)
|
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
|
|
|
NM_017882.3(CLN6):c.195C>A (p.Ala65=)
|
|
|
NM_017882.3(CLN6):c.195C>T (p.Ala65=)
|
rs1472031434
|
|
NM_017882.3(CLN6):c.196A>G (p.Met66Val)
|
rs1430705796
|
|
NM_017882.3(CLN6):c.196dup (p.Met66fs)
|
rs2141145023
|
|
NM_017882.3(CLN6):c.198+11A>C
|
|
|
NM_017882.3(CLN6):c.198+12A>G
|
|
|
NM_017882.3(CLN6):c.198+17G>A
|
|
|
NM_017882.3(CLN6):c.198+19A>C
|
|
|
NM_017882.3(CLN6):c.198+20C>T
|
|
|
NM_017882.3(CLN6):c.198+3G>C
|
|
|
NM_017882.3(CLN6):c.198+5G>A
|
|
|
NM_017882.3(CLN6):c.199-12T>C
|
|
|
NM_017882.3(CLN6):c.199-12T>G
|
|
|
NM_017882.3(CLN6):c.199-13A>G
|
|
|
NM_017882.3(CLN6):c.199-14C>A
|
|
|
NM_017882.3(CLN6):c.199-14C>T
|
|
|
NM_017882.3(CLN6):c.199-14del
|
|
|
NM_017882.3(CLN6):c.199-16T>A
|
|
|
NM_017882.3(CLN6):c.199-19dup
|
rs1567096664
|
|
NM_017882.3(CLN6):c.199-6C>G
|
|
|
NM_017882.3(CLN6):c.199-6C>T
|
|
|
NM_017882.3(CLN6):c.199-7T>C
|
|
|
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)
|
|
|
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
|
|
|
NM_017882.3(CLN6):c.204A>T (p.Val68=)
|
|
|
NM_017882.3(CLN6):c.207C>T (p.Phe69=)
|
rs2093214789
|
|
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg)
|
rs1450871754
|
|
NM_017882.3(CLN6):c.213C>G (p.Leu71=)
|
rs146980624
|
|
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys)
|
rs104894483
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017882.3(CLN6):c.216G>A (p.Glu72=)
|
|
|
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)
|
|
|
NM_017882.3(CLN6):c.21G>A (p.Arg7=)
|
rs2093262736
|
|
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu)
|
rs1595819607
|
|
NM_017882.3(CLN6):c.225A>C (p.Pro75=)
|
|
|
NM_017882.3(CLN6):c.225A>G (p.Pro75=)
|
rs544291935
|
|
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr)
|
rs776974644
|
|
NM_017882.3(CLN6):c.247dup (p.Asp83fs)
|
|
|
NM_017882.3(CLN6):c.24G>A (p.Gln8=)
|
|
|
NM_017882.3(CLN6):c.252C>T (p.Tyr84=)
|
rs2141141480
|
|
NM_017882.3(CLN6):c.255C>T (p.Phe85=)
|
|
|
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter)
|
|
|
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp)
|
rs2093214490
|
|
NM_017882.3(CLN6):c.268_271dup (p.Val91fs)
|
rs786205067
|
|
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile)
|
rs2141141464
|
|
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys)
|
|
|
NM_017882.3(CLN6):c.276C>G (p.Ile92Met)
|
|
|
NM_017882.3(CLN6):c.27C>T (p.His9=)
|
rs2141156267
|
|
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser)
|
|
|
NM_017882.3(CLN6):c.288C>G (p.Leu96=)
|
rs2141141422
|
|
NM_017882.3(CLN6):c.288C>T (p.Leu96=)
|
|
|
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs)
|
rs2141141420
|
|
NM_017882.3(CLN6):c.28C>G (p.Leu10Val)
|
rs1457277891
|
|
NM_017882.3(CLN6):c.28C>T (p.Leu10=)
|
rs1457277891
|
|
NM_017882.3(CLN6):c.291G>A (p.Leu97=)
|
|
|
NM_017882.3(CLN6):c.294C>G (p.Leu98=)
|
rs2141141419
|
|
NM_017882.3(CLN6):c.297+17C>T
|
|
|
NM_017882.3(CLN6):c.297+18C>G
|
|
|
NM_017882.3(CLN6):c.297+19del
|
rs61224699
|
|
NM_017882.3(CLN6):c.297+1G>A
|
rs796052351
|
|
NM_017882.3(CLN6):c.297+4C>T
|
rs1030759897
|
|
NM_017882.3(CLN6):c.297+9C>T
|
rs1258135795
|
|
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.298-13C>T
|
|
|
NM_017882.3(CLN6):c.298-14A>T
|
|
|
NM_017882.3(CLN6):c.298-16C>A
|
|
|
NM_017882.3(CLN6):c.298-17C>G
|
|
|
NM_017882.3(CLN6):c.298-1G>C
|
rs1595818391
|
|
NM_017882.3(CLN6):c.298-20A>C
|
|
|
NM_017882.3(CLN6):c.298-3del
|
rs1567095944
|
|
NM_017882.3(CLN6):c.298-8A>T
|
rs2141139490
|
|
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg)
|
rs1555438702
|
|
NM_017882.3(CLN6):c.300C>T (p.Leu100=)
|
|
|
NM_017882.3(CLN6):c.303C>T (p.Ile101=)
|
rs1369226101
|
|
NM_017882.3(CLN6):c.309G>A (p.Arg103=)
|
|
|
NM_017882.3(CLN6):c.309G>T (p.Arg103=)
|
rs2141139457
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu)
|
rs769747737
|
|
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly)
|
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017882.3(CLN6):c.321C>T (p.Thr107=)
|
rs755184214
|
|
NM_017882.3(CLN6):c.324G>T (p.Leu108=)
|
rs2093206574
|
|
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu)
|
rs140179213
|
|
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala)
|
rs2093262694
|
|
NM_017882.3(CLN6):c.330C>T (p.Arg110=)
|
|
|
NM_017882.3(CLN6):c.333C>T (p.Ser111=)
|
rs995775001
|
|
NM_017882.3(CLN6):c.33A>G (p.Gly11=)
|
rs2141156259
|
|
NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)
|
|
|
NM_017882.3(CLN6):c.342C>T (p.Tyr114=)
|
rs765719755
|
|
NM_017882.3(CLN6):c.351C>T (p.Ile117=)
|
|
|
NM_017882.3(CLN6):c.354C>T (p.Ile118=)
|
rs1555438691
|
|
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del)
|
rs1401381423
|
|
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu)
|
rs1362402324
|
|
NM_017882.3(CLN6):c.363C>G (p.Ile121Met)
|
rs148547876
|
|
NM_017882.3(CLN6):c.363C>T (p.Ile121=)
|
|
|
NM_017882.3(CLN6):c.364A>G (p.Met122Val)
|
|
|
NM_017882.3(CLN6):c.365T>C (p.Met122Thr)
|
rs2093206265
|
|
NM_017882.3(CLN6):c.366G>C (p.Met122Ile)
|
|
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
|
NM_017882.3(CLN6):c.371C>T (p.Ala124Val)
|
rs1567095879
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.375C>T (p.Ser125=)
|
rs2093206218
|
|
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr)
|
rs2141139324
|
|
NM_017882.3(CLN6):c.384G>A (p.Leu128=)
|
|
|
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
|
|
|
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)
|
rs774543080
|
|
NM_017882.3(CLN6):c.396T>G (p.Ser132=)
|
rs949403836
|
|
NM_017882.3(CLN6):c.397_398del (p.Val133fs)
|
rs766493088
|
|
NM_017882.3(CLN6):c.39G>C (p.Thr13=)
|
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
|
|
|
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
|
|
|
NM_017882.3(CLN6):c.405C>T (p.His135=)
|
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
|
NM_017882.3(CLN6):c.407del (p.Arg136fs)
|
|
|
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser)
|
rs2093262651
|
|
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
|
|
|
NM_017882.3(CLN6):c.411G>A (p.Leu137=)
|
rs748062705
|
|
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
|
|
|
NM_017882.3(CLN6):c.414C>G (p.Leu138=)
|
|
|
NM_017882.3(CLN6):c.414C>T (p.Leu138=)
|
rs2093206040
|
|
NM_017882.3(CLN6):c.424dup (p.Tyr142fs)
|
|
|
NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)
|
|
|
NM_017882.3(CLN6):c.426C>T (p.Tyr142=)
|
rs768766915
|
|
NM_017882.3(CLN6):c.429G>A (p.Gln143=)
|
|
|
NM_017882.3(CLN6):c.431A>G (p.His144Arg)
|
rs1595818258
|
|
NM_017882.3(CLN6):c.441T>G (p.Ser147=)
|
rs1595818241
|
|
NM_017882.3(CLN6):c.444C>G (p.Val148=)
|
rs2141139200
|
|
NM_017882.3(CLN6):c.444C>T (p.Val148=)
|
|
|
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg)
|
rs2141139183
|
|
NM_017882.3(CLN6):c.456C>A (p.Pro152=)
|
rs2141139176
|
|
NM_017882.3(CLN6):c.456del (p.Ile153fs)
|
|
|
NM_017882.3(CLN6):c.45C>T (p.Gly15=)
|
|
|
NM_017882.3(CLN6):c.462C>T (p.Ile154=)
|
rs2141139170
|
|
NM_017882.3(CLN6):c.465G>A (p.Lys155=)
|
|
|
NM_017882.3(CLN6):c.471C>G (p.Leu157=)
|
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.483G>A (p.Thr161=)
|
rs2141139146
|
|
NM_017882.3(CLN6):c.483G>T (p.Thr161=)
|
rs2141139146
|
|
NM_017882.3(CLN6):c.486+11C>A
|
|
|
NM_017882.3(CLN6):c.486+11C>T
|
|
|
NM_017882.3(CLN6):c.486+12T>G
|
|
|
NM_017882.3(CLN6):c.486+13C>T
|
|
|
NM_017882.3(CLN6):c.486+15dup
|
|
|
NM_017882.3(CLN6):c.486+16G>A
|
|
|
NM_017882.3(CLN6):c.486+16dup
|
|
|
NM_017882.3(CLN6):c.486+17C>A
|
|
|
NM_017882.3(CLN6):c.486+19C>G
|
|
|
NM_017882.3(CLN6):c.486+1G>C
|
rs756522171
|
|
NM_017882.3(CLN6):c.486+7C>G
|
rs1481891129
|
|
NM_017882.3(CLN6):c.486+8C>A
|
rs149692285
|
|
NM_017882.3(CLN6):c.487-10C>G
|
|
|
NM_017882.3(CLN6):c.487-10C>T
|
rs778284215
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
NM_017882.3(CLN6):c.487-19C>T
|
rs2141138841
|
|
NM_017882.3(CLN6):c.487-1G>T
|
|
|
NM_017882.3(CLN6):c.487-5C>A
|
|
|
NM_017882.3(CLN6):c.487-7C>A
|
|
|
NM_017882.3(CLN6):c.487-7C>G
|
rs2141138813
|
|
NM_017882.3(CLN6):c.487-7C>T
|
rs2141138813
|
|
NM_017882.3(CLN6):c.487-9C>G
|
|
|
NM_017882.3(CLN6):c.48A>C (p.Pro16=)
|
|
|
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn)
|
rs779685727
|
|
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro)
|
|
|
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe)
|
rs1595818025
|
|
NM_017882.3(CLN6):c.495C>T (p.Ser165=)
|
|
|
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser)
|
rs2093204354
|
|
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)
|
rs762902907
|
|
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys)
|
rs796052360
|
|
NM_017882.3(CLN6):c.501G>A (p.Glu167=)
|
|
|
NM_017882.3(CLN6):c.502C>T (p.Leu168=)
|
rs2141138776
|
|
NM_017882.3(CLN6):c.504G>A (p.Leu168=)
|
|
|
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.507C>T (p.Leu169=)
|
rs1273285939
|
|
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)
|
|
|
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del)
|
rs916824303
|
|
NM_017882.3(CLN6):c.519T>C (p.Asp173=)
|
rs756942559
|
|
NM_017882.3(CLN6):c.525C>T (p.Tyr175=)
|
|
|
NM_017882.3(CLN6):c.526C>T (p.Leu176=)
|
rs2141138733
|
|
NM_017882.3(CLN6):c.528G>A (p.Leu176=)
|
rs2141138731
|
|
NM_017882.3(CLN6):c.528G>C (p.Leu176=)
|
rs2141138731
|
|
NM_017882.3(CLN6):c.542+11G>A
|
|
|
NM_017882.3(CLN6):c.542+12G>T
|
|
|
NM_017882.3(CLN6):c.542+13C>G
|
|
|
NM_017882.3(CLN6):c.542+13C>T
|
|
|
NM_017882.3(CLN6):c.542+14C>T
|
|
|
NM_017882.3(CLN6):c.542+15del
|
|
|
NM_017882.3(CLN6):c.542+16A>T
|
|
|
NM_017882.3(CLN6):c.542+20G>A
|
|
|
NM_017882.3(CLN6):c.542+2T>C
|
|
|
NM_017882.3(CLN6):c.542+5G>T
|
rs786205066
|
|
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)
|
rs1380684360
|
|
NM_017882.3(CLN6):c.543-10C>A
|
rs767297743
|
|
NM_017882.3(CLN6):c.543-13C>G
|
|
|
NM_017882.3(CLN6):c.543-17T>C
|
|
|
NM_017882.3(CLN6):c.543-19A>G
|
|
|
NM_017882.3(CLN6):c.543-2A>G
|
rs2141137336
|
|
NM_017882.3(CLN6):c.543-8T>C
|
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.546C>T (p.Tyr182=)
|
rs751550252
|
|
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer)
|
|
|
NM_017882.3(CLN6):c.54G>A (p.Ala18=)
|
rs1199248099
|
|
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
|
|
|
NM_017882.3(CLN6):c.552C>T (p.Pro184=)
|
rs1595817219
|
|
NM_017882.3(CLN6):c.553T>G (p.Phe185Val)
|
rs2093199272
|
|
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del)
|
rs2141137304
|
|
NM_017882.3(CLN6):c.555C>T (p.Phe185=)
|
rs1595817218
|
|
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe)
|
rs764670832
|
|
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr)
|
rs763059017
|
|
NM_017882.3(CLN6):c.564C>T (p.Ile188=)
|
rs371326037
|
|
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
|
|
|
NM_017882.3(CLN6):c.567C>T (p.Leu189=)
|
rs762214934
|
|
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu)
|
|
|
NM_017882.3(CLN6):c.571A>G (p.Met191Val)
|
rs1555438435
|
|
NM_017882.3(CLN6):c.57G>C (p.Gln19His)
|
rs2093262571
|
|
NM_017882.3(CLN6):c.583_596del (p.Gly195fs)
|
rs2093199030
|
|
NM_017882.3(CLN6):c.588C>T (p.Cys196=)
|
rs770515770
|
|
NM_017882.3(CLN6):c.597C>A (p.Ala199=)
|
|
|
NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)
|
|
|
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr)
|
rs2141137255
|
|
NM_017882.3(CLN6):c.606T>C (p.Ala202=)
|
|
|
NM_017882.3(CLN6):c.609G>A (p.Glu203=)
|
rs1026588122
|
|
NM_017882.3(CLN6):c.60G>C (p.Leu20=)
|
|
|
NM_017882.3(CLN6):c.613T>C (p.Leu205=)
|
|
|
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr)
|
rs2141137247
|
|
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla)
|
rs878855040
|
|
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu)
|
rs2141137239
|
|
NM_017882.3(CLN6):c.624G>A (p.Gly208=)
|
|
|
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser)
|
rs1064794559
|
|
NM_017882.3(CLN6):c.631C>T (p.Leu211=)
|
|
|
NM_017882.3(CLN6):c.633G>T (p.Leu211=)
|
|
|
NM_017882.3(CLN6):c.636C>T (p.Leu212=)
|
rs758612277
|
|
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
|
|
|
NM_017882.3(CLN6):c.642G>A (p.Val214=)
|
|
|
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly)
|
rs1567095087
|
|
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr)
|
rs527373013
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.653G>T (p.Gly218Val)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.655C>T (p.Leu219=)
|
|
|
NM_017882.3(CLN6):c.655del (p.Leu219fs)
|
rs2141137200
|
|
NM_017882.3(CLN6):c.657G>A (p.Leu219=)
|
rs1363322956
|
|
NM_017882.3(CLN6):c.658_665del (p.Tyr220fs)
|
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017882.3(CLN6):c.665+10C>T
|
rs1254894871
|
|
NM_017882.3(CLN6):c.665+11A>T
|
|
|
NM_017882.3(CLN6):c.665+12T>A
|
|
|
NM_017882.3(CLN6):c.665+14A>T
|
|
|
NM_017882.3(CLN6):c.665+18T>C
|
|
|
NM_017882.3(CLN6):c.665+18T>G
|
|
|
NM_017882.3(CLN6):c.665+19G>A
|
|
|
NM_017882.3(CLN6):c.665+1G>A
|
rs796052356
|
|
NM_017882.3(CLN6):c.665+7G>A
|
|
|
NM_017882.3(CLN6):c.666-12T>C
|
|
|
NM_017882.3(CLN6):c.666-15C>T
|
|
|
NM_017882.3(CLN6):c.666-16C>T
|
rs2141136181
|
|
NM_017882.3(CLN6):c.666-19_666-16del
|
|
|
NM_017882.3(CLN6):c.666-4C>T
|
rs2141136177
|
|
NM_017882.3(CLN6):c.666-5T>C
|
|
|
NM_017882.3(CLN6):c.666-5T>G
|
|
|
NM_017882.3(CLN6):c.666-9C>T
|
|
|
NM_017882.3(CLN6):c.667T>C (p.Tyr223His)
|
rs2093194324
|
|
NM_017882.3(CLN6):c.669C>T (p.Tyr223=)
|
|
|
NM_017882.3(CLN6):c.66C>T (p.Ala22=)
|
rs796052349
|
|
NM_017882.3(CLN6):c.66del (p.Ser23fs)
|
rs2093262507
|
|
NM_017882.3(CLN6):c.670C>T (p.Leu224=)
|
|
|
NM_017882.3(CLN6):c.672G>T (p.Leu224=)
|
|
|
NM_017882.3(CLN6):c.675C>A (p.Val225=)
|
|
|
NM_017882.3(CLN6):c.675C>T (p.Val225=)
|
|
|
NM_017882.3(CLN6):c.678C>G (p.Thr226=)
|
rs374744816
|
|
NM_017882.3(CLN6):c.681G>A (p.Glu227=)
|
rs1486759204
|
|
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
|
|
|
NM_017882.3(CLN6):c.684C>A (p.Gly228=)
|
rs1209133488
|
|
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
|
|
|
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
|
|
|
NM_017882.3(CLN6):c.690C>A (p.Ile230=)
|
|
|
NM_017882.3(CLN6):c.696C>G (p.Ile232Met)
|
rs2141136135
|
|
NM_017882.3(CLN6):c.69C>T (p.Ser23=)
|
|
|
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser)
|
rs2141136125
|
|
NM_017882.3(CLN6):c.706T>G (p.Phe236Val)
|
rs796052358
|
|
NM_017882.3(CLN6):c.711C>T (p.Thr237=)
|
rs2141136113
|
|
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr)
|
rs2141136108
|
|
NM_017882.3(CLN6):c.717C>T (p.Phe239=)
|
rs745850620
|
|
NM_017882.3(CLN6):c.720C>T (p.Ala240=)
|
|
|
NM_017882.3(CLN6):c.721A>G (p.Met241Val)
|
rs753994750
|
|
NM_017882.3(CLN6):c.722T>C (p.Met241Thr)
|
rs1555438255
|
|
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
|
|
|
NM_017882.3(CLN6):c.724C>T (p.Leu242=)
|
rs2093194081
|
|
NM_017882.3(CLN6):c.730C>G (p.Leu244Val)
|
rs2093194059
|
|
NM_017882.3(CLN6):c.733G>A (p.Val245Ile)
|
rs377192977
|
|
NM_017882.3(CLN6):c.735C>G (p.Val245=)
|
|
|
NM_017882.3(CLN6):c.739del (p.His247fs)
|
|
|
NM_017882.3(CLN6):c.73C>T (p.Leu25=)
|
|
|
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
|
|
|
NM_017882.3(CLN6):c.747G>A (p.Lys249=)
|
rs2093194013
|
|
NM_017882.3(CLN6):c.753G>A (p.Lys251=)
|
|
|
NM_017882.3(CLN6):c.756C>T (p.Arg252=)
|
|
|
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe)
|
rs1274562752
|
|
NM_017882.3(CLN6):c.759C>G (p.Leu253=)
|
rs1567094628
|
|
NM_017882.3(CLN6):c.759C>T (p.Leu253=)
|
rs1567094628
|
|
NM_017882.3(CLN6):c.75G>A (p.Leu25=)
|
|
|
NM_017882.3(CLN6):c.75G>T (p.Leu25=)
|
rs2093262478
|
|
NM_017882.3(CLN6):c.765G>A (p.Leu255=)
|
|
|
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
|
|
|
NM_017882.3(CLN6):c.774C>T (p.Asn258=)
|
rs1555438231
|
|
NM_017882.3(CLN6):c.777C>T (p.Gly259=)
|
|
|
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
|
|
|
NM_017882.3(CLN6):c.783C>T (p.Phe261=)
|
|
|
NM_017882.3(CLN6):c.786C>T (p.Leu262=)
|
|
|
NM_017882.3(CLN6):c.789C>T (p.Phe263=)
|
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017882.3(CLN6):c.795C>T (p.Ser265=)
|
|
|
NM_017882.3(CLN6):c.802C>T (p.Leu268=)
|
|
|
NM_017882.3(CLN6):c.804G>A (p.Leu268=)
|
rs2141135982
|
|
NM_017882.3(CLN6):c.804G>T (p.Leu268=)
|
rs2141135982
|
|
NM_017882.3(CLN6):c.813G>A (p.Leu271=)
|
|
|
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
|
|
|
NM_017882.3(CLN6):c.81C>T (p.Ala27=)
|
|
|
NM_017882.3(CLN6):c.822G>C (p.Ala274=)
|
|
|
NM_017882.3(CLN6):c.822G>T (p.Ala274=)
|
|
|
NM_017882.3(CLN6):c.825C>G (p.Leu275=)
|
|
|
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
|
|
|
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys)
|
rs2093193718
|
|
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp)
|
rs2093262448
|
|
NM_017882.3(CLN6):c.83+11G>A
|
rs2093262385
|
|
NM_017882.3(CLN6):c.83+13C>G
|
|
|
NM_017882.3(CLN6):c.83+14G>A
|
|
|
NM_017882.3(CLN6):c.83+14dup
|
rs756808642
|
|
NM_017882.3(CLN6):c.83+15G>A
|
|
|
NM_017882.3(CLN6):c.83+6C>T
|
|
|
NM_017882.3(CLN6):c.83+7G>A
|
rs1595826955
|
|
NM_017882.3(CLN6):c.83+9G>A
|
rs2141156141
|
|
NM_017882.3(CLN6):c.83+9G>C
|
|
|
NM_017882.3(CLN6):c.831C>A (p.Val277=)
|
|
|
NM_017882.3(CLN6):c.834C>T (p.Ala278=)
|
|
|
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
|
|
|
NM_017882.3(CLN6):c.84-12G>C
|
|
|
NM_017882.3(CLN6):c.84-16T>A
|
|
|
NM_017882.3(CLN6):c.84-17G>A
|
|
|
NM_017882.3(CLN6):c.84-17G>T
|
|
|
NM_017882.3(CLN6):c.84-17_84-15del
|
|
|
NM_017882.3(CLN6):c.84-18C>A
|
|
|
NM_017882.3(CLN6):c.84-3del
|
rs2141145190
|
|
NM_017882.3(CLN6):c.84-4C>G
|
|
|
NM_017882.3(CLN6):c.84-4C>T
|
|
|
NM_017882.3(CLN6):c.840G>C (p.Leu280=)
|
|
|
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu)
|
rs1239948245
|
|
NM_017882.3(CLN6):c.852T>A (p.Pro284=)
|
|
|
NM_017882.3(CLN6):c.852T>C (p.Pro284=)
|
rs2141135937
|
|
NM_017882.3(CLN6):c.858C>G (p.Leu286=)
|
|
|
NM_017882.3(CLN6):c.858C>T (p.Leu286=)
|
rs1043430340
|
|
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp)
|
rs2141135931
|
|
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
|
|
|
NM_017882.3(CLN6):c.872dup (p.Val293fs)
|
|
|
NM_017882.3(CLN6):c.873G>A (p.Pro291=)
|
rs567275786
|
|
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
|
|
|
NM_017882.3(CLN6):c.876T>C (p.Gly292=)
|
rs916275768
|
|
NM_017882.3(CLN6):c.879C>T (p.Val293=)
|
|
|
NM_017882.3(CLN6):c.888C>T (p.Val296=)
|
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017882.3(CLN6):c.90C>G (p.Gly30=)
|
|
|
NM_017882.3(CLN6):c.912C>G (p.Thr304=)
|
|
|
NM_017882.3(CLN6):c.915del (p.His306fs)
|
|
|
NM_017882.3(CLN6):c.919G>A (p.Val307Ile)
|
rs146801142
|
|
NM_017882.3(CLN6):c.919G>T (p.Val307Phe)
|
rs146801142
|
|
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg)
|
rs2141135839
|
|
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg)
|
rs762916725
|
|
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)
|
rs762916725
|
|
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)
|
|
|
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys)
|
rs2141145171
|
|
NM_017882.3(CLN6):c.95T>G (p.Val32Gly)
|
|
|
NM_017882.3(CLN6):c.9G>A (p.Ala3=)
|
|
|
NM_017882.3(CLN6):c.9G>C (p.Ala3=)
|
|
|
NM_018941.4(CLN8):c.102C>T (p.Phe34=)
|
rs2130990585
|
|
NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)
|
rs2130990601
|
|
NM_018941.4(CLN8):c.109_112dup (p.Val38fs)
|
|
|
NM_018941.4(CLN8):c.111C>A (p.Gly37=)
|
rs753430388
|
|
NM_018941.4(CLN8):c.112G>T (p.Val38Phe)
|
rs370199508
|
|
NM_018941.4(CLN8):c.114C>A (p.Val38=)
|
rs1585137545
|
|
NM_018941.4(CLN8):c.114C>G (p.Val38=)
|
rs1585137545
|
|
NM_018941.4(CLN8):c.123C>G (p.Val41=)
|
|
|
NM_018941.4(CLN8):c.123C>T (p.Val41=)
|
rs1801286645
|
|
NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)
|
rs192196274
|
|
NM_018941.4(CLN8):c.127C>T (p.His43Tyr)
|
rs541840243
|
|
NM_018941.4(CLN8):c.12G>A (p.Ala4=)
|
rs368792081
|
|
NM_018941.4(CLN8):c.12G>C (p.Ala4=)
|
|
|
NM_018941.4(CLN8):c.12G>T (p.Ala4=)
|
rs368792081
|
|
NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)
|
rs2130990747
|
|
NM_018941.4(CLN8):c.135G>A (p.Leu45=)
|
rs766132197
|
|
NM_018941.4(CLN8):c.135G>C (p.Leu45=)
|
|
|
NM_018941.4(CLN8):c.144C>A (p.Ser48=)
|
rs2130990822
|
|
NM_018941.4(CLN8):c.145C>T (p.Leu49=)
|
|
|
NM_018941.4(CLN8):c.153C>G (p.Ala51=)
|
|
|
NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)
|
|
|
NM_018941.4(CLN8):c.159C>T (p.Tyr53=)
|
rs780551031
|
|
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)
|
rs374597781
|
|
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
|
|
|
NM_018941.4(CLN8):c.160del (p.Arg54fs)
|
|
|
NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)
|
|
|
NM_018941.4(CLN8):c.16G>A (p.Asp6Asn)
|
rs200999640
|
|
NM_018941.4(CLN8):c.16G>C (p.Asp6His)
|
rs200999640
|
|
NM_018941.4(CLN8):c.174C>T (p.Ala58=)
|
|
|
NM_018941.4(CLN8):c.180G>A (p.Glu60=)
|
rs2130990994
|
|
NM_018941.4(CLN8):c.182A>C (p.Lys61Thr)
|
|
|
NM_018941.4(CLN8):c.187T>C (p.Phe63Leu)
|
|
|
NM_018941.4(CLN8):c.18T>A (p.Asp6Glu)
|
rs1464108080
|
|
NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)
|
|
|
NM_018941.4(CLN8):c.194A>T (p.Asp65Val)
|
|
|
NM_018941.4(CLN8):c.19G>A (p.Gly7Arg)
|
rs764099428
|
|
NM_018941.4(CLN8):c.1A>T (p.Met1Leu)
|
|
|
NM_018941.4(CLN8):c.201G>A (p.Ala67=)
|
rs575820157
|
|
NM_018941.4(CLN8):c.204C>T (p.Ala68=)
|
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
|
|
|
NM_018941.4(CLN8):c.210T>C (p.Arg70=)
|
rs2130991152
|
|
NM_018941.4(CLN8):c.213A>C (p.Ala71=)
|
|
|
NM_018941.4(CLN8):c.213A>G (p.Ala71=)
|
rs763671368
|
|
NM_018941.4(CLN8):c.216C>G (p.Val72=)
|
|
|
NM_018941.4(CLN8):c.21G>A (p.Gly7=)
|
rs751762914
|
|
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)
|
rs1554449047
|
|
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
|
|
|
NM_018941.4(CLN8):c.228G>A (p.Gln76=)
|
rs1585137825
|
|
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
|
|
|
NM_018941.4(CLN8):c.231C>T (p.Ser77=)
|
rs1408818831
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
|
|
|
NM_018941.4(CLN8):c.237C>T (p.Ala79=)
|
rs1362205695
|
|
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr)
|
rs998922998
|
|
NM_018941.4(CLN8):c.23G>T (p.Gly8Val)
|
rs781017885
|
|
NM_018941.4(CLN8):c.244C>T (p.Leu82=)
|
|
|
NM_018941.4(CLN8):c.246G>C (p.Leu82=)
|
rs144015378
|
|
NM_018941.4(CLN8):c.246G>T (p.Leu82=)
|
|
|
NM_018941.4(CLN8):c.258G>A (p.Leu86=)
|
|
|
NM_018941.4(CLN8):c.261G>A (p.Gly87=)
|
|
|
NM_018941.4(CLN8):c.263del (p.Asp88fs)
|
rs1057516582
|
|
NM_018941.4(CLN8):c.265C>A (p.Pro89Thr)
|
|
|
NM_018941.4(CLN8):c.265C>G (p.Pro89Ala)
|
rs1486320972
|
|
NM_018941.4(CLN8):c.268G>T (p.Val90Leu)
|
|
|
NM_018941.4(CLN8):c.26C>T (p.Thr9Ile)
|
rs1174240541
|
|
NM_018941.4(CLN8):c.273G>A (p.Leu91=)
|
rs878855052
|
|
NM_018941.4(CLN8):c.273G>T (p.Leu91=)
|
rs878855052
|
|
NM_018941.4(CLN8):c.274C>G (p.His92Asp)
|
rs34030778
|
|
NM_018941.4(CLN8):c.278C>G (p.Ala93Gly)
|
rs1468620144
|
|
NM_018941.4(CLN8):c.27A>G (p.Thr9=)
|
rs750274455
|
|
NM_018941.4(CLN8):c.280G>A (p.Asp94Asn)
|
rs143918546
|
|
NM_018941.4(CLN8):c.280G>C (p.Asp94His)
|
rs143918546
|
|
NM_018941.4(CLN8):c.290G>T (p.Arg97Leu)
|
rs116605307
|
|
NM_018941.4(CLN8):c.291T>C (p.Arg97=)
|
|
|
NM_018941.4(CLN8):c.297G>A (p.Gln99=)
|
rs1057521001
|
|
NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)
|
|
|
NM_018941.4(CLN8):c.29C>T (p.Ser10Leu)
|
rs1454175058
|
|
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys)
|
rs755831055
|
|
NM_018941.4(CLN8):c.303C>T (p.Asn101=)
|
rs755831055
|
|
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)
|
rs1801297484
|
|
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.315del (p.His106fs)
|
|
|
NM_018941.4(CLN8):c.321C>T (p.Ile107=)
|
rs2130991748
|
|
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
|
|
|
NM_018941.4(CLN8):c.324G>T (p.Thr108=)
|
|
|
NM_018941.4(CLN8):c.327A>G (p.Thr109=)
|
|
|
NM_018941.4(CLN8):c.330A>G (p.Ala110=)
|
rs2130991797
|
|
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala)
|
rs1563107925
|
|
NM_018941.4(CLN8):c.336A>T (p.Gly112=)
|
rs1585138188
|
|
NM_018941.4(CLN8):c.33G>A (p.Glu11=)
|
rs2130990075
|
|
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
|
|
|
NM_018941.4(CLN8):c.345C>T (p.Cys115=)
|
|
|
NM_018941.4(CLN8):c.353A>C (p.Asn118Thr)
|
|
|
NM_018941.4(CLN8):c.358G>T (p.Ala120Ser)
|
rs1353274959
|
|
NM_018941.4(CLN8):c.359C>T (p.Ala120Val)
|
|
|
NM_018941.4(CLN8):c.35G>C (p.Ser12Thr)
|
rs1775036577
|
|
NM_018941.4(CLN8):c.360A>G (p.Ala120=)
|
rs2130991953
|
|
NM_018941.4(CLN8):c.361G>A (p.Val121Ile)
|
rs1223417396
|
|
NM_018941.4(CLN8):c.363C>A (p.Val121=)
|
rs568852954
|
|
NM_018941.4(CLN8):c.366C>T (p.His122=)
|
|
|
NM_018941.4(CLN8):c.367C>T (p.Leu123=)
|
rs2130992011
|
|
NM_018941.4(CLN8):c.369G>A (p.Leu123=)
|
|
|
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr)
|
rs1198837795
|
|
NM_018941.4(CLN8):c.372C>T (p.Ser124=)
|
rs2130992027
|
|
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)
|
rs142269885
|
|
NM_018941.4(CLN8):c.375C>T (p.Asn125=)
|
|
|
NM_018941.4(CLN8):c.376T>C (p.Leu126=)
|
|
|
NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)
|
|
|
NM_018941.4(CLN8):c.37A>G (p.Ile13Val)
|
rs1563107126
|
|
NM_018941.4(CLN8):c.380T>G (p.Ile127Ser)
|
|
|
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu)
|
rs1801301214
|
|
NM_018941.4(CLN8):c.384C>T (p.Phe128=)
|
|
|
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
|
|
|
NM_018941.4(CLN8):c.387G>C (p.Arg129=)
|
rs2130992139
|
|
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile)
|
rs1165037847
|
|
NM_018941.4(CLN8):c.390A>C (p.Thr130=)
|
rs181971599
|
|
NM_018941.4(CLN8):c.390A>G (p.Thr130=)
|
rs181971599
|
|
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys)
|
rs1404214432
|
|
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)
|
rs554042394
|
|
NM_018941.4(CLN8):c.399G>A (p.Leu133=)
|
rs948684101
|
|
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)
|
rs948684101
|
|
NM_018941.4(CLN8):c.39T>A (p.Ile13=)
|
|
|
NM_018941.4(CLN8):c.39T>G (p.Ile13Met)
|
rs1801279215
|
|
NM_018941.4(CLN8):c.405G>A (p.Leu135=)
|
|
|
NM_018941.4(CLN8):c.408T>C (p.Val136=)
|
rs535963507
|
|
NM_018941.4(CLN8):c.411C>T (p.Ile137=)
|
rs147224140
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.420C>G (p.Leu140=)
|
rs2130992308
|
|
NM_018941.4(CLN8):c.426C>T (p.Ala142=)
|
rs1354416712
|
|
NM_018941.4(CLN8):c.427T>G (p.Phe143Val)
|
rs2130992340
|
|
NM_018941.4(CLN8):c.429T>C (p.Phe143=)
|
|
|
NM_018941.4(CLN8):c.429_432del (p.Phe143fs)
|
rs759598033
|
|
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
|
|
|
NM_018941.4(CLN8):c.452T>C (p.Val151Ala)
|
rs752026391
|
|
NM_018941.4(CLN8):c.453C>G (p.Val151=)
|
rs1801304769
|
|
NM_018941.4(CLN8):c.453C>T (p.Val151=)
|
|
|
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
|
|
|
NM_018941.4(CLN8):c.459C>A (p.Leu153=)
|
rs1031756072
|
|
NM_018941.4(CLN8):c.459C>G (p.Leu153=)
|
rs1031756072
|
|
NM_018941.4(CLN8):c.459C>T (p.Leu153=)
|
|
|
NM_018941.4(CLN8):c.462A>G (p.Gln154=)
|
rs1366343262
|
|
NM_018941.4(CLN8):c.468C>G (p.Gly156=)
|
rs2130992519
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.471C>G (p.His157Gln)
|
rs1585138507
|
|
NM_018941.4(CLN8):c.474T>C (p.Tyr158=)
|
rs2130992557
|
|
NM_018941.4(CLN8):c.474_477dup (p.Ala160fs)
|
|
|
NM_018941.4(CLN8):c.475C>T (p.Leu159=)
|
rs2130992571
|
|
NM_018941.4(CLN8):c.477A>G (p.Leu159=)
|
|
|
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser)
|
rs1554449289
|
|
NM_018941.4(CLN8):c.486C>T (p.Thr162=)
|
rs768531216
|
|
NM_018941.4(CLN8):c.489G>A (p.Thr163=)
|
rs1585138564
|
|
NM_018941.4(CLN8):c.489G>T (p.Thr163=)
|
rs1585138564
|
|
NM_018941.4(CLN8):c.48G>C (p.Leu16=)
|
rs2130990190
|
|
NM_018941.4(CLN8):c.490T>C (p.Leu164=)
|
rs2130992657
|
|
NM_018941.4(CLN8):c.495C>T (p.Leu165=)
|
rs772106347
|
|
NM_018941.4(CLN8):c.496C>T (p.Leu166=)
|
|
|
NM_018941.4(CLN8):c.499G>A (p.Glu167Lys)
|
rs144495588
|
|
NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)
|
|
|
NM_018941.4(CLN8):c.50A>T (p.Asp17Val)
|
rs148668081
|
|
NM_018941.4(CLN8):c.510G>C (p.Thr170=)
|
|
|
NM_018941.4(CLN8):c.510G>T (p.Thr170=)
|
rs759153401
|
|
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)
|
rs1184115888
|
|
NM_018941.4(CLN8):c.513C>A (p.Pro171=)
|
|
|
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
|
|
|
NM_018941.4(CLN8):c.523G>C (p.Val175Leu)
|
rs768139689
|
|
NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)
|
|
|
NM_018941.4(CLN8):c.537C>T (p.Leu179=)
|
rs2130992882
|
|
NM_018941.4(CLN8):c.539T>A (p.Leu180Ter)
|
rs1801309834
|
|
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys)
|
rs142104002
|
|
NM_018941.4(CLN8):c.543+12C>G
|
|
|
NM_018941.4(CLN8):c.543+12_543+20dup
|
|
|
NM_018941.4(CLN8):c.543+13A>C
|
|
|
NM_018941.4(CLN8):c.543+14T>G
|
|
|
NM_018941.4(CLN8):c.543+19A>C
|
|
|
NM_018941.4(CLN8):c.543+1G>A
|
rs756267448
|
|
NM_018941.4(CLN8):c.543+5G>C
|
|
|
NM_018941.4(CLN8):c.543+7G>A
|
rs779967066
|
|
NM_018941.4(CLN8):c.543+9A>C
|
rs982453047
|
|
NM_018941.4(CLN8):c.544-15C>T
|
|
|
NM_018941.4(CLN8):c.544-19T>G
|
|
|
NM_018941.4(CLN8):c.544-2A>C
|
|
|
NM_018941.4(CLN8):c.544-5T>C
|
|
|
NM_018941.4(CLN8):c.544-6A>C
|
rs200435861
|
|
NM_018941.4(CLN8):c.544-6A>T
|
|
|
NM_018941.4(CLN8):c.544-8C>A
|
|
|
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
|
|
|
NM_018941.4(CLN8):c.546G>T (p.Ala182=)
|
rs144047076
|
|
NM_018941.4(CLN8):c.548del (p.Gly183fs)
|
|
|
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly)
|
rs1801670539
|
|
NM_018941.4(CLN8):c.555C>G (p.Ser185=)
|
|
|
NM_018941.4(CLN8):c.555del (p.Glu186fs)
|
|
|
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys)
|
rs775174607
|
|
NM_018941.4(CLN8):c.561T>A (p.Ser187=)
|
|
|
NM_018941.4(CLN8):c.561T>C (p.Ser187=)
|
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_018941.4(CLN8):c.56C>T (p.Ala19Val)
|
rs942360618
|
|
NM_018941.4(CLN8):c.571A>C (p.Lys191Gln)
|
rs1801671671
|
|
NM_018941.4(CLN8):c.573G>A (p.Lys191=)
|
rs1801671744
|
|
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
|
|
|
NM_018941.4(CLN8):c.576C>G (p.Leu192=)
|
|
|
NM_018941.4(CLN8):c.576C>T (p.Leu192=)
|
|
|
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
|
|
|
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
|
|
|
NM_018941.4(CLN8):c.57A>G (p.Ala19=)
|
rs1256814205
|
|
NM_018941.4(CLN8):c.582G>C (p.Gln194His)
|
rs139824802
|
|
NM_018941.4(CLN8):c.583T>A (p.Trp195Arg)
|
rs766924857
|
|
NM_018941.4(CLN8):c.586C>G (p.Leu196Val)
|
rs1459482330
|
|
NM_018941.4(CLN8):c.588G>A (p.Leu196=)
|
rs2129015199
|
|
NM_018941.4(CLN8):c.588G>C (p.Leu196=)
|
rs2129015199
|
|
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)
|
rs1801672516
|
|
NM_018941.4(CLN8):c.598A>T (p.Met200Leu)
|
rs749595247
|
|
NM_018941.4(CLN8):c.59C>T (p.Ser20Phe)
|
rs749651452
|
|
NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)
|
|
|
NM_018941.4(CLN8):c.606C>G (p.His202Gln)
|
|
|
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)
|
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
NM_018941.4(CLN8):c.612C>T (p.Arg204=)
|
|
|
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
|
|
|
NM_018941.4(CLN8):c.616G>T (p.Val206Phe)
|
rs751249766
|
|
NM_018941.4(CLN8):c.618T>G (p.Val206=)
|
|
|
NM_018941.4(CLN8):c.624C>A (p.Thr208=)
|
rs1257327513
|
|
NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)
|
|
|
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
|
|
|
NM_018941.4(CLN8):c.630C>T (p.His210=)
|
rs1554451522
|
|
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
|
|
|
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
|
|
|
NM_018941.4(CLN8):c.635G>A (p.Trp212Ter)
|
rs2129015230
|
|
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
|
|
|
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
|
|
|
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys)
|
rs113304303
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
|
|
|
NM_018941.4(CLN8):c.663C>A (p.Gly221=)
|
|
|
NM_018941.4(CLN8):c.667G>C (p.Val223Leu)
|
rs1801676517
|
|
NM_018941.4(CLN8):c.669C>G (p.Val223=)
|
rs2129015252
|
|
NM_018941.4(CLN8):c.675C>T (p.Ser225=)
|
|
|
NM_018941.4(CLN8):c.678G>A (p.Leu226=)
|
|
|
NM_018941.4(CLN8):c.678G>C (p.Leu226=)
|
rs1462963398
|
|
NM_018941.4(CLN8):c.678_687del (p.Tyr227fs)
|
|
|
NM_018941.4(CLN8):c.682C>G (p.Leu228Val)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.682C>T (p.Leu228=)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.684G>C (p.Leu228=)
|
|
|
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
|
|
|
NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)
|
|
|
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
|
|
|
NM_018941.4(CLN8):c.693G>A (p.Leu231=)
|
rs1470702469
|
|
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
|
|
|
NM_018941.4(CLN8):c.696A>G (p.Thr232=)
|
rs1337045486
|
|
NM_018941.4(CLN8):c.697C>T (p.Leu233=)
|
|
|
NM_018941.4(CLN8):c.699G>C (p.Leu233=)
|
|
|
NM_018941.4(CLN8):c.702C>T (p.Phe234=)
|
rs1264323379
|
|
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
|
|
|
NM_018941.4(CLN8):c.703del (p.Val236fs)
|
rs761621368
|
|
NM_018941.4(CLN8):c.705T>G (p.Leu235=)
|
|
|
NM_018941.4(CLN8):c.706G>A (p.Val236Ile)
|
rs371830719
|
|
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
|
|
|
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)
|
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys)
|
rs104894064
|
|
NM_018941.4(CLN8):c.714G>A (p.Leu238=)
|
|
|
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
|
|
|
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)
|
|
|
NM_018941.4(CLN8):c.721C>G (p.Leu241Val)
|
rs1554451594
|
|
NM_018941.4(CLN8):c.726G>C (p.Thr242=)
|
rs200529220
|
|
NM_018941.4(CLN8):c.72C>T (p.Arg24=)
|
rs767698401
|
|
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
|
|
|
NM_018941.4(CLN8):c.732C>G (p.Ile244Met)
|
rs747778614
|
|
NM_018941.4(CLN8):c.738T>C (p.Asn246=)
|
rs2129015283
|
|
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
|
|
|
NM_018941.4(CLN8):c.744T>C (p.Tyr248=)
|
rs2129015286
|
|
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
|
|
|
NM_018941.4(CLN8):c.750C>T (p.Thr250=)
|
|
|
NM_018941.4(CLN8):c.759G>A (p.Lys253=)
|
rs1463644943
|
|
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)
|
rs746397087
|
|
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)
|
rs746397087
|
|
NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)
|
|
|
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
|
|
|
NM_018941.4(CLN8):c.774C>T (p.Leu258=)
|
rs1801681630
|
|
NM_018941.4(CLN8):c.775A>G (p.Asn259Asp)
|
rs1044299834
|
|
NM_018941.4(CLN8):c.776A>T (p.Asn259Ile)
|
rs201956727
|
|
NM_018941.4(CLN8):c.77C>G (p.Thr26Arg)
|
rs755846977
|
|
NM_018941.4(CLN8):c.77C>T (p.Thr26Met)
|
rs755846977
|
|
NM_018941.4(CLN8):c.780G>C (p.Pro260=)
|
rs761984333
|
|
NM_018941.4(CLN8):c.781G>A (p.Val261Met)
|
rs1482950665
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)
|
rs878855053
|
|
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)
|
rs28940569
|
|
NM_018941.4(CLN8):c.792C>T (p.Asn264=)
|
rs587779411
|
|
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
|
|
|
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
|
|
|
NM_018941.4(CLN8):c.798A>C (p.Ala266=)
|
rs754493769
|
|
NM_018941.4(CLN8):c.798A>G (p.Ala266=)
|
|
|
NM_018941.4(CLN8):c.7C>T (p.Pro3Ser)
|
rs767218890
|
|
NM_018941.4(CLN8):c.801G>C (p.Gln267His)
|
|
|
NM_018941.4(CLN8):c.801dup (p.Pro268fs)
|
|
|
NM_018941.4(CLN8):c.804A>G (p.Pro268=)
|
rs746305311
|
|
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly)
|
rs139003032
|
|
NM_018941.4(CLN8):c.809C>T (p.Ala270Val)
|
rs2129015316
|
|
NM_018941.4(CLN8):c.810C>G (p.Ala270=)
|
|
|
NM_018941.4(CLN8):c.813G>A (p.Lys271=)
|
rs947633775
|
|
NM_018941.4(CLN8):c.820C>T (p.Pro274Ser)
|
|
|
NM_018941.4(CLN8):c.827del (p.Gly276fs)
|
rs1365308812
|
|
NM_018941.4(CLN8):c.830A>G (p.Asn277Ser)
|
|
|
NM_018941.4(CLN8):c.834G>A (p.Gly278=)
|
|
|
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
|
|
|
NM_018941.4(CLN8):c.838C>T (p.Leu280=)
|
rs886043061
|
|
NM_018941.4(CLN8):c.841C>T (p.Leu281=)
|
|
|
NM_018941.4(CLN8):c.844C>A (p.Arg282=)
|
rs587780898
|
|
NM_018941.4(CLN8):c.845G>C (p.Arg282Pro)
|
rs766172825
|
|
NM_018941.4(CLN8):c.851A>C (p.Lys284Thr)
|
rs2129015342
|
|
NM_018941.4(CLN8):c.855G>A (p.Arg285=)
|
|
|
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?)
|
rs2129015346
|
|
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
|
|
|
NM_018941.4(CLN8):c.861G>A (p.Ter287=)
|
|
|
NM_018941.4(CLN8):c.90T>G (p.Ala30=)
|
|
|
NM_018941.4(CLN8):c.93C>T (p.Gly31=)
|
|
|
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)
|
rs758068226
|
|
NM_018941.4(CLN8):c.97G>C (p.Val33Leu)
|
rs1801284979
|
|
NM_022089.4(ATP13A2):c.10+13T>C
|
|
|
NM_022089.4(ATP13A2):c.10+14C>T
|
|
|
NM_022089.4(ATP13A2):c.102C>T (p.Ser34=)
|
|
|
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
|
|
|
NM_022089.4(ATP13A2):c.1039+11A>G
|
rs2100994243
|
|
NM_022089.4(ATP13A2):c.1039+15C>G
|
|
|
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
|
|
|
NM_022089.4(ATP13A2):c.1040-12G>A
|
|
|
NM_022089.4(ATP13A2):c.1040-13C>T
|
|
|
NM_022089.4(ATP13A2):c.1040-18C>T
|
|
|
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=)
|
|
|
NM_022089.4(ATP13A2):c.106-13G>A
|
|
|
NM_022089.4(ATP13A2):c.106-20C>T
|
|
|
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
|
|
|
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
|
|
|
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=)
|
rs2100916560
|
|
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp)
|
rs2077158233
|
|
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=)
|
|
|
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp)
|
rs746292302
|
|
NM_022089.4(ATP13A2):c.1113del (p.His372fs)
|
rs1377055875
|
|
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
|
|
|
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)
|
|
|
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg)
|
rs1570833382
|
|
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly)
|
rs780883238
|
|
NM_022089.4(ATP13A2):c.1137C>G (p.Leu379=)
|
rs1026641789
|
|
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg)
|
|
|
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe)
|
rs762628723
|
|
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu)
|
rs769588580
|
|
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln)
|
rs201661480
|
|
NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=)
|
|
|
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
|
|
|
NM_022089.4(ATP13A2):c.1195+12G>C
|
|
|
NM_022089.4(ATP13A2):c.1195+19G>A
|
|
|
NM_022089.4(ATP13A2):c.1195+5G>A
|
|
|
NM_022089.4(ATP13A2):c.1195+7G>A
|
rs1407939803
|
|
NM_022089.4(ATP13A2):c.1196-17C>T
|
|
|
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu)
|
rs2100897670
|
|
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu)
|
rs373349384
|
|
NM_022089.4(ATP13A2):c.1215G>T (p.Gly405=)
|
rs763507619
|
|
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=)
|
rs796629683
|
|
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met)
|
rs773702054
|
|
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg)
|
|
|
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)
|
|
|
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln)
|
|
|
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)
|
|
|
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu)
|
|
|
NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=)
|
|
|
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
|
|
|
NM_022089.4(ATP13A2):c.1306+5G>A
|
rs786205056
|
|
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr)
|
rs1439546959
|
|
NM_022089.4(ATP13A2):c.1307-11T>C
|
|
|
NM_022089.4(ATP13A2):c.1307-20G>T
|
rs1161484444
|
|
NM_022089.4(ATP13A2):c.1314C>T (p.Leu438=)
|
rs764435162
|
|
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=)
|
rs775625778
|
|
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr)
|
|
|
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del)
|
|
|
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
|
|
|
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)
|
|
|
NM_022089.4(ATP13A2):c.1353+16G>C
|
|
|
NM_022089.4(ATP13A2):c.1353+17G>T
|
|
|
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
|
|
|
NM_022089.4(ATP13A2):c.1353_1353+1del
|
|
|
NM_022089.4(ATP13A2):c.1354-11C>T
|
|
|
NM_022089.4(ATP13A2):c.1354-12G>A
|
|
|
NM_022089.4(ATP13A2):c.1354-17A>C
|
|
|
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val)
|
rs2100884368
|
|
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
|
|
|
NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=)
|
|
|
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly)
|
rs2101131465
|
|
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
|
|
|
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
|
|
|
NM_022089.4(ATP13A2):c.1443G>A (p.Thr481=)
|
|
|
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln)
|
|
|
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu)
|
rs760567858
|
|
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu)
|
rs1570821678
|
|
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His)
|
rs2101123287
|
|
NM_022089.4(ATP13A2):c.1491C>T (p.His497=)
|
|
|
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
|
|
|
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)
|
rs121918227
|
|
NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=)
|
|
|
NM_022089.4(ATP13A2):c.1542+11A>G
|
rs1286184234
|
|
NM_022089.4(ATP13A2):c.1542+13G>A
|
rs2100878532
|
|
NM_022089.4(ATP13A2):c.1542+13dup
|
rs1367928615
|
|
NM_022089.4(ATP13A2):c.1543-11G>A
|
|
|
NM_022089.4(ATP13A2):c.1543-14C>T
|
|
|
NM_022089.4(ATP13A2):c.1543-18C>T
|
|
|
NM_022089.4(ATP13A2):c.1543-7C>T
|
|
|
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
|
|
|
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn)
|
|
|
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu)
|
rs2077019285
|
|
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val)
|
rs2077019135
|
|
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro)
|
rs2100818906
|
|
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup)
|
rs766184032
|
|
NM_022089.4(ATP13A2):c.1609C>T (p.Leu537=)
|
|
|
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser)
|
|
|
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His)
|
rs1379076892
|
|
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys)
|
|
|
NM_022089.4(ATP13A2):c.1662A>G (p.Ala554=)
|
|
|
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=)
|
rs1269279941
|
|
NM_022089.4(ATP13A2):c.1665G>A (p.Leu555=)
|
rs2100816612
|
|
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn)
|
rs2100815818
|
|
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn)
|
rs2100815502
|
|
NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=)
|
|
|
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
|
|
|
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
|
|
|
NM_022089.4(ATP13A2):c.1749+12A>G
|
|
|
NM_022089.4(ATP13A2):c.1749+15C>G
|
|
|
NM_022089.4(ATP13A2):c.1749+5G>C
|
|
|
NM_022089.4(ATP13A2):c.1749+8G>T
|
|
|
NM_022089.4(ATP13A2):c.1750-11C>A
|
|
|
NM_022089.4(ATP13A2):c.1750-14T>C
|
|
|
NM_022089.4(ATP13A2):c.1750-20C>A
|
|
|
NM_022089.4(ATP13A2):c.1750-20C>G
|
rs1305686148
|
|
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys)
|
rs1251315572
|
|
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln)
|
|
|
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val)
|
rs758957419
|
|
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr)
|
|
|
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile)
|
rs764411847
|
|
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)
|
|
|
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
|
|
|
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val)
|
rs200529993
|
|
NM_022089.4(ATP13A2):c.1845+14G>A
|
|
|
NM_022089.4(ATP13A2):c.1845+15del
|
|
|
NM_022089.4(ATP13A2):c.1845+17C>T
|
rs912845832
|
|
NM_022089.4(ATP13A2):c.1846-2A>G
|
rs2100783138
|
|
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
|
|
|
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala)
|
rs2100782693
|
|
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)
|
|
|
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=)
|
|
|
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
|
|
|
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg)
|
rs2100780847
|
|
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
|
|
|
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)
|
rs369722835
|
|
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=)
|
|
|
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
|
|
|
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
|
|
|
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=)
|
|
|
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
|
|
|
NM_022089.4(ATP13A2):c.2005+10_2005+13dup
|
|
|
NM_022089.4(ATP13A2):c.2005+11A>G
|
|
|
NM_022089.4(ATP13A2):c.2005+13G>A
|
|
|
NM_022089.4(ATP13A2):c.2006-1G>C
|
|
|
NM_022089.4(ATP13A2):c.2006-20C>T
|
|
|
NM_022089.4(ATP13A2):c.2006-7dup
|
|
|
NM_022089.4(ATP13A2):c.2006-9C>A
|
|
|
NM_022089.4(ATP13A2):c.2019C>T (p.Phe673=)
|
|
|
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
|
|
|
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
|
|
|
NM_022089.4(ATP13A2):c.2082A>G (p.Pro694=)
|
rs1303061130
|
|
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
|
|
|
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu)
|
rs2077535736
|
|
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
|
|
|
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
|
|
|
NM_022089.4(ATP13A2):c.2126+11C>A
|
|
|
NM_022089.4(ATP13A2):c.2126+13C>T
|
|
|
NM_022089.4(ATP13A2):c.2126+20C>T
|
rs2100772296
|
|
NM_022089.4(ATP13A2):c.2127-13G>A
|
|
|
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
|
|
|
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser)
|
rs373607247
|
|
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu)
|
rs2076943011
|
|
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)
|
|
|
NM_022089.4(ATP13A2):c.2136G>A (p.Val712=)
|
rs1232417254
|
|
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
|
|
|
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer)
|
rs2100768788
|
|
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
|
|
|
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=)
|
rs544545629
|
|
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
|
|
|
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
|
|
|
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
|
|
|
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro)
|
|
|
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
|
|
|
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)
|
|
|
NM_022089.4(ATP13A2):c.2190G>A (p.Pro730=)
|
|
|
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)
|
|
|
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met)
|
rs1372021672
|
|
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly)
|
rs973767624
|
|
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys)
|
|
|
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val)
|
rs1401459588
|
|
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=)
|
|
|
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)
|
|
|
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
|
|
|
NM_022089.4(ATP13A2):c.2251+19G>A
|
|
|
NM_022089.4(ATP13A2):c.2251+20C>T
|
|
|
NM_022089.4(ATP13A2):c.2251+5A>G
|
|
|
NM_022089.4(ATP13A2):c.2252-12C>G
|
|
|
NM_022089.4(ATP13A2):c.2252-12C>T
|
|
|
NM_022089.4(ATP13A2):c.2252-18T>C
|
rs2076885723
|
|
NM_022089.4(ATP13A2):c.2262G>A (p.Leu754=)
|
|
|
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)
|
|
|
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser)
|
|
|
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg)
|
rs77630788
|
|
NM_022089.4(ATP13A2):c.2310G>A (p.Gln770=)
|
|
|
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=)
|
|
|
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)
|
rs56170027
|
|
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly)
|
|
|
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro)
|
rs867014635
|
|
NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=)
|
|
|
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
|
|
|
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=)
|
|
|
NM_022089.4(ATP13A2):c.2412+12C>G
|
|
|
NM_022089.4(ATP13A2):c.2413-1G>C
|
|
|
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu)
|
rs2100727013
|
|
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)
|
|
|
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
|
|
|
NM_022089.4(ATP13A2):c.2454C>T (p.Pro818=)
|
rs2100725900
|
|
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys)
|
|
|
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr)
|
rs2100725484
|
|
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg)
|
rs147611385
|
|
NM_022089.4(ATP13A2):c.2481G>T (p.Gly827=)
|
rs761620417
|
|
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu)
|
rs1235764815
|
|
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
|
|
|
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=)
|
rs1460426486
|
|
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln)
|
rs2100724045
|
|
NM_022089.4(ATP13A2):c.2529+10C>T
|
|
|
NM_022089.4(ATP13A2):c.2529+11C>T
|
|
|
NM_022089.4(ATP13A2):c.2529+7C>T
|
rs2100723755
|
|
NM_022089.4(ATP13A2):c.2530-14C>A
|
rs759142662
|
|
NM_022089.4(ATP13A2):c.2538C>G (p.Val846=)
|
rs1365858933
|
|
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=)
|
rs769033175
|
|
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
|
|
|
NM_022089.4(ATP13A2):c.2556C>T (p.Ala852=)
|
rs55889979
|
|
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly)
|
rs772243999
|
|
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
|
|
|
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=)
|
rs1295653375
|
|
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
|
|
|
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
|
|
|
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
|
|
|
NM_022089.4(ATP13A2):c.2609+19G>T
|
|
|
NM_022089.4(ATP13A2):c.2610-8C>T
|
|
|
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)
|
|
|
NM_022089.4(ATP13A2):c.2664G>T (p.Ala888=)
|
|
|
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
|
|
|
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=)
|
rs767921922
|
|
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=)
|
rs1348572920
|
|
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
|
|
|
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=)
|
rs146234171
|
|
NM_022089.4(ATP13A2):c.2762+18C>T
|
|
|
NM_022089.4(ATP13A2):c.2762+19G>C
|
rs779656439
|
|
NM_022089.4(ATP13A2):c.2762+9G>A
|
rs1570769698
|
|
NM_022089.4(ATP13A2):c.2763-4_2763-1del
|
|
|
NM_022089.4(ATP13A2):c.2763-8C>A
|
|
|
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
|
|
|
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=)
|
|
|
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=)
|
|
|
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
|
|
|
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
|
|
|
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg)
|
rs2101118952
|
|
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg)
|
rs148721722
|
|
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met)
|
rs148721722
|
|
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=)
|
rs144557304
|
|
NM_022089.4(ATP13A2):c.2860-7G>A
|
rs2076770965
|
|
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=)
|
|
|
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
|
|
|
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
|
|
|
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=)
|
|
|
NM_022089.4(ATP13A2):c.288+12G>T
|
rs749064381
|
|
NM_022089.4(ATP13A2):c.288+13C>G
|
rs1300682662
|
|
NM_022089.4(ATP13A2):c.288+17G>T
|
|
|
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser)
|
rs2100659067
|
|
NM_022089.4(ATP13A2):c.289-12T>C
|
|
|
NM_022089.4(ATP13A2):c.289-13C>T
|
|
|
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)
|
|
|
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His)
|
rs772870846
|
|
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu)
|
rs769445714
|
|
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del)
|
|
|
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala)
|
rs776148733
|
|
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly)
|
rs776148733
|
|
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro)
|
|
|
NM_022089.4(ATP13A2):c.2958C>G (p.Val986=)
|
|
|
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
|
|
|
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=)
|
|
|
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp)
|
rs2100656614
|
|
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=)
|
|
|
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg)
|
rs146559160
|
|
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=)
|
|
|
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
|
|
|
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)
|
|
|
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg)
|
rs1557729552
|
|
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)
|
|
|
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)
|
|
|
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
|
|
|
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup)
|
rs2100654427
|
|
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=)
|
rs1415173041
|
|
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro)
|
rs2076761037
|
|
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile)
|
rs951420437
|
|
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln)
|
|
|
NM_022089.4(ATP13A2):c.3083+18dup
|
|
|
NM_022089.4(ATP13A2):c.3083+2T>C
|
rs771581490
|
|
NM_022089.4(ATP13A2):c.3083+5G>A
|
|
|
NM_022089.4(ATP13A2):c.3084-10G>A
|
rs368908107
|
|
NM_022089.4(ATP13A2):c.3084-10G>T
|
rs368908107
|
|
NM_022089.4(ATP13A2):c.3084-20C>T
|
rs773787370
|
|
NM_022089.4(ATP13A2):c.3084-7C>A
|
|
|
NM_022089.4(ATP13A2):c.3084-7C>T
|
|
|
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)
|
|
|
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=)
|
|
|
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)
|
rs1557666781
|
|
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=)
|
rs56126202
|
|
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
|
|
|
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs)
|
rs1570759415
|
|
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
|
|
|
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser)
|
|
|
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu)
|
rs377431904
|
|
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu)
|
rs764988645
|
|
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
|
|
|
NM_022089.4(ATP13A2):c.3207G>T (p.Ala1069=)
|
|
|
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=)
|
rs372993383
|
|
NM_022089.4(ATP13A2):c.3235+11G>C
|
|
|
NM_022089.4(ATP13A2):c.3235+14C>T
|
|
|
NM_022089.4(ATP13A2):c.3235+19G>A
|
|
|
NM_022089.4(ATP13A2):c.3236-13C>G
|
rs2076736733
|
|
NM_022089.4(ATP13A2):c.3236-19_3236-16del
|
|
|
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His)
|
|
|
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu)
|
|
|
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)
|
|
|
NM_022089.4(ATP13A2):c.3270C>T (p.Ser1090=)
|
|
|
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
|
|
|
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=)
|
|
|
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu)
|
rs1057522952
|
|
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=)
|
|
|
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe)
|
rs886045577
|
|
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
|
|
|
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=)
|
rs751916254
|
|
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser)
|
rs145674970
|
|
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
|
|
|
NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=)
|
|
|
NM_022089.4(ATP13A2):c.3405+19C>T
|
|
|
NM_022089.4(ATP13A2):c.3405+7C>T
|
rs758763354
|
|
NM_022089.4(ATP13A2):c.3406-13del
|
|
|
NM_022089.4(ATP13A2):c.3406-8del
|
|
|
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg)
|
rs779310083
|
|
NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=)
|
|
|
NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=)
|
rs2100629081
|
|
NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=)
|
|
|
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
|
|
|
NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=)
|
|
|
NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=)
|
|
|
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)
|
|
|
NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=)
|
|
|
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
|
|
|
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)
|
|
|
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
|
|
|
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val)
|
|
|
NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=)
|
|
|
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro)
|
rs772666861
|
|
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=)
|
rs761171771
|
|
NM_022089.4(ATP13A2):c.347+12_347+13del
|
|
|
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT
|
|
|
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn)
|
rs2100626361
|
|
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser)
|
rs201610681
|
|
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser)
|
rs1553164387
|
|
NM_022089.4(ATP13A2):c.348-16T>C
|
rs2077491501
|
|
NM_022089.4(ATP13A2):c.348-17C>T
|
|
|
NM_022089.4(ATP13A2):c.348-9_351del
|
rs749798211
|
|
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg)
|
rs2077491125
|
|
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=)
|
rs373003359
|
|
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
|
|
|
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=)
|
|
|
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)
|
|
|
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
|
|
|
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs)
|
rs779637529
|
|
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)
|
|
|
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer)
|
rs1570752813
|
|
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
|
|
|
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser)
|
rs1421953227
|
|
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
|
|
|
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
|
|
|
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala)
|
rs2101102735
|
|
NM_022089.4(ATP13A2):c.408G>A (p.Ala136=)
|
|
|
NM_022089.4(ATP13A2):c.409del (p.Val137fs)
|
rs2077487643
|
|
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)
|
|
|
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala)
|
rs1287774416
|
|
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile)
|
|
|
NM_022089.4(ATP13A2):c.477+12A>G
|
|
|
NM_022089.4(ATP13A2):c.477+18C>A
|
|
|
NM_022089.4(ATP13A2):c.478-7C>T
|
|
|
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
|
|
|
NM_022089.4(ATP13A2):c.483G>A (p.Arg161=)
|
|
|
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu)
|
rs766714391
|
|
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
|
|
|
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys)
|
rs2101432066
|
|
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser)
|
rs762075619
|
|
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu)
|
rs2077471676
|
|
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
|
|
|
NM_022089.4(ATP13A2):c.557+1G>T
|
|
|
NM_022089.4(ATP13A2):c.557+7G>A
|
|
|
NM_022089.4(ATP13A2):c.558-11C>T
|
rs912183101
|
|
NM_022089.4(ATP13A2):c.558-15C>T
|
|
|
NM_022089.4(ATP13A2):c.558-6C>T
|
|
|
NM_022089.4(ATP13A2):c.570T>C (p.His190=)
|
|
|
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
|
|
|
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
|
|
|
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro)
|
|
|
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)
|
|
|
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys)
|
rs2101047661
|
|
NM_022089.4(ATP13A2):c.604del (p.His202fs)
|
|
|
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)
|
rs1483668823
|
|
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
|
|
|
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
|
|
|
NM_022089.4(ATP13A2):c.635+10G>C
|
|
|
NM_022089.4(ATP13A2):c.635+20G>A
|
|
|
NM_022089.4(ATP13A2):c.635+8C>T
|
|
|
NM_022089.4(ATP13A2):c.636-12C>A
|
|
|
NM_022089.4(ATP13A2):c.636-19G>A
|
rs1001030076
|
|
NM_022089.4(ATP13A2):c.642C>T (p.Ala214=)
|
rs2101043010
|
|
NM_022089.4(ATP13A2):c.657C>T (p.Asn219=)
|
|
|
NM_022089.4(ATP13A2):c.66G>A (p.Gly22=)
|
|
|
NM_022089.4(ATP13A2):c.702C>T (p.Asp234=)
|
|
|
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
|
|
|
NM_022089.4(ATP13A2):c.705+11C>T
|
|
|
NM_022089.4(ATP13A2):c.706-13G>A
|
rs374468183
|
|
NM_022089.4(ATP13A2):c.706-13G>T
|
rs374468183
|
|
NM_022089.4(ATP13A2):c.706-16C>T
|
rs2101010699
|
|
NM_022089.4(ATP13A2):c.706-17T>C
|
|
|
NM_022089.4(ATP13A2):c.706-3C>T
|
rs753707797
|
|
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro)
|
|
|
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu)
|
|
|
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val)
|
|
|
NM_022089.4(ATP13A2):c.747G>A (p.Ala249=)
|
|
|
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
|
|
|
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val)
|
rs561097876
|
|
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met)
|
rs1557703924
|
|
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu)
|
rs1213129765
|
|
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)
|
|
|
NM_022089.4(ATP13A2):c.840+5G>A
|
|
|
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn)
|
rs1326739914
|
|
NM_022089.4(ATP13A2):c.841-15G>T
|
|
|
NM_022089.4(ATP13A2):c.841-18C>T
|
|
|
NM_022089.4(ATP13A2):c.841-20C>T
|
|
|
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu)
|
rs2077304764
|
|
NM_022089.4(ATP13A2):c.853C>T (p.Leu285=)
|
|
|
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile)
|
rs866353083
|
|
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)
|
|
|
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)
|
|
|
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
|
|
|
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
|
|
|
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg)
|
rs948455777
|
|
NM_022089.4(ATP13A2):c.908-13T>G
|
|
|
NM_022089.4(ATP13A2):c.908-14C>T
|
rs536927284
|
|
NM_022089.4(ATP13A2):c.908-18T>A
|
|
|
NM_022089.4(ATP13A2):c.908-19C>T
|
|
|
NM_022089.4(ATP13A2):c.908-20C>T
|
rs2100997892
|
|
NM_022089.4(ATP13A2):c.908-8G>A
|
|
|
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
|
|
|
NM_022089.4(ATP13A2):c.934C>T (p.Leu312=)
|
|
|
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser)
|
rs752006308
|
|
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=)
|
|
|
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=)
|
rs551559306
|
|
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu)
|
rs1557702165
|
|
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
|
|
|
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
|
|
|
NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)
|
|
|
NM_025219.3(DNAJC5):c.111G>A (p.Lys37=)
|
rs2053641677
|
|
NM_025219.3(DNAJC5):c.141C>A (p.Asn47Lys)
|
rs1600885575
|
|
NM_025219.3(DNAJC5):c.147C>A (p.Asp49Glu)
|
|
|
NM_025219.3(DNAJC5):c.147C>T (p.Asp49=)
|
|
|
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys)
|
rs1006274437
|
|
NM_025219.3(DNAJC5):c.150C>T (p.Asn50=)
|
rs963094374
|
|
NM_025219.3(DNAJC5):c.153G>A (p.Pro51=)
|
rs151265913
|
|
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)
|
rs151265913
|
|
NM_025219.3(DNAJC5):c.168G>A (p.Lys56=)
|
|
|
NM_025219.3(DNAJC5):c.174G>A (p.Lys58=)
|
rs2146305404
|
|
NM_025219.3(DNAJC5):c.186C>T (p.Asn62=)
|
|
|
NM_025219.3(DNAJC5):c.193G>A (p.Ala65Thr)
|
rs772453351
|
|
NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser)
|
rs772453351
|
|
NM_025219.3(DNAJC5):c.20G>A (p.Arg7His)
|
rs2053633035
|
|
NM_025219.3(DNAJC5):c.211A>C (p.Thr71Pro)
|
rs2146305478
|
|
NM_025219.3(DNAJC5):c.226T>C (p.Tyr76His)
|
rs2053642970
|
|
NM_025219.3(DNAJC5):c.229G>T (p.Asp77Tyr)
|
rs762638579
|
|
NM_025219.3(DNAJC5):c.232A>G (p.Lys78Glu)
|
rs2053643194
|
|
NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser)
|
rs1555879996
|
|
NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu)
|
rs933246467
|
|
NM_025219.3(DNAJC5):c.243G>T (p.Ser81=)
|
rs532410241
|
|
NM_025219.3(DNAJC5):c.244C>T (p.Leu82=)
|
rs1168791937
|
|
NM_025219.3(DNAJC5):c.261C>G (p.Ala87=)
|
|
|
NM_025219.3(DNAJC5):c.285G>T (p.Val95=)
|
|
|
NM_025219.3(DNAJC5):c.301C>G (p.Leu101Val)
|
rs2053643951
|
|
NM_025219.3(DNAJC5):c.303G>A (p.Leu101=)
|
|
|
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln)
|
rs2053644044
|
|
NM_025219.3(DNAJC5):c.321+38_321+63del
|
rs2053644346
|
|
NM_025219.3(DNAJC5):c.321+38_321+63dup
|
|
|
NM_025219.3(DNAJC5):c.321+90_321+141del
|
rs2146305682
|
|
NM_025219.3(DNAJC5):c.322-13C>T
|
|
|
NM_025219.3(DNAJC5):c.322-15_322-14delinsAC
|
rs2146308175
|
|
NM_025219.3(DNAJC5):c.322-17C>T
|
|
|
NM_025219.3(DNAJC5):c.322-18_322-16del
|
rs1410187166
|
|
NM_025219.3(DNAJC5):c.322-3C>A
|
rs777923854
|
|
NM_025219.3(DNAJC5):c.322-3dup
|
rs1173184036
|
|
NM_025219.3(DNAJC5):c.322-4C>A
|
|
|
NM_025219.3(DNAJC5):c.322-4C>G
|
rs376221120
|
|
NM_025219.3(DNAJC5):c.322-5C>G
|
rs373568941
|
|
NM_025219.3(DNAJC5):c.322-9T>A
|
rs2146308196
|
|
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser)
|
rs1322303376
|
|
NM_025219.3(DNAJC5):c.327G>C (p.Leu109=)
|
rs1555880229
|
|
NM_025219.3(DNAJC5):c.333C>G (p.Val111=)
|
rs1037164977
|
|
NM_025219.3(DNAJC5):c.334T>C (p.Phe112Leu)
|
|
|
NM_025219.3(DNAJC5):c.336C>T (p.Phe112=)
|
|
|
NM_025219.3(DNAJC5):c.342C>T (p.Gly114=)
|
rs746279787
|
|
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del)
|
rs587776892
|
|
NM_025219.3(DNAJC5):c.346C>T (p.Leu116Phe)
|
rs2053663677
|
|
NM_025219.3(DNAJC5):c.351G>T (p.Thr117=)
|
rs775067598
|
|
NM_025219.3(DNAJC5):c.360C>T (p.Tyr120=)
|
|
|
NM_025219.3(DNAJC5):c.375G>C (p.Leu125=)
|
|
|
NM_025219.3(DNAJC5):c.39G>A (p.Gly13=)
|
rs753100030
|
|
NM_025219.3(DNAJC5):c.400G>A (p.Gly134Arg)
|
|
|
NM_025219.3(DNAJC5):c.417G>A (p.Lys139=)
|
|
|
NM_025219.3(DNAJC5):c.420G>A (p.Ala140=)
|
rs568985915
|
|
NM_025219.3(DNAJC5):c.428G>C (p.Gly143Ala)
|
|
|
NM_025219.3(DNAJC5):c.42G>C (p.Glu14Asp)
|
rs2053633217
|
|
NM_025219.3(DNAJC5):c.436_437delinsTT (p.Thr146Leu)
|
|
|
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)
|
rs746222594
|
|
NM_025219.3(DNAJC5):c.441G>A (p.Glu147=)
|
|
|
NM_025219.3(DNAJC5):c.448G>A (p.Val150Met)
|
rs146719477
|
|
NM_025219.3(DNAJC5):c.453C>T (p.Ser151=)
|
rs1482200561
|
|
NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)
|
|
|
NM_025219.3(DNAJC5):c.483T>A (p.Ser161=)
|
rs2146308564
|
|
NM_025219.3(DNAJC5):c.487G>C (p.Glu163Gln)
|
rs773217530
|
|
NM_025219.3(DNAJC5):c.488A>G (p.Glu163Gly)
|
rs2053665398
|
|
NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys)
|
rs762961919
|
|
NM_025219.3(DNAJC5):c.493+11G>C
|
rs760774827
|
|
NM_025219.3(DNAJC5):c.493+17G>C
|
|
|
NM_025219.3(DNAJC5):c.493+19G>A
|
rs2053665643
|
|
NM_025219.3(DNAJC5):c.493+20C>A
|
|
|
NM_025219.3(DNAJC5):c.493+22del
|
|
|
NM_025219.3(DNAJC5):c.493+8C>T
|
|
|
NM_025219.3(DNAJC5):c.494-15G>A
|
|
|
NM_025219.3(DNAJC5):c.494-16T>A
|
|
|
NM_025219.3(DNAJC5):c.494-19C>T
|
|
|
NM_025219.3(DNAJC5):c.500C>T (p.Thr167Ile)
|
|
|
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)
|
rs886056935
|
|
NM_025219.3(DNAJC5):c.506C>T (p.Thr169Met)
|
rs777119527
|
|
NM_025219.3(DNAJC5):c.510G>T (p.Pro170=)
|
|
|
NM_025219.3(DNAJC5):c.516C>T (p.Val172=)
|
rs2146309323
|
|
NM_025219.3(DNAJC5):c.518T>C (p.Ile173Thr)
|
|
|
NM_025219.3(DNAJC5):c.520C>T (p.Gln174Ter)
|
rs2146309343
|
|
NM_025219.3(DNAJC5):c.522G>C (p.Gln174His)
|
|
|
NM_025219.3(DNAJC5):c.527C>T (p.Ala176Val)
|
rs199540600
|
|
NM_025219.3(DNAJC5):c.52C>T (p.His18Tyr)
|
|
|
NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr)
|
rs766374425
|
|
NM_025219.3(DNAJC5):c.537C>T (p.Thr179=)
|
|
|
NM_025219.3(DNAJC5):c.538G>A (p.Glu180Lys)
|
|
|
NM_025219.3(DNAJC5):c.554C>T (p.Thr185Ile)
|
|
|
NM_025219.3(DNAJC5):c.558C>T (p.Ala186=)
|
|
|
NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)
|
|
|
NM_025219.3(DNAJC5):c.570C>T (p.Pro190=)
|
rs1349994773
|
|
NM_025219.3(DNAJC5):c.578A>G (p.His193Arg)
|
|
|
NM_025219.3(DNAJC5):c.57C>T (p.Val19=)
|
|
|
NM_025219.3(DNAJC5):c.586G>A (p.Gly196Arg)
|
rs748741035
|
|
NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)
|
|
|
NM_025219.3(DNAJC5):c.66G>A (p.Leu22=)
|
rs1057523849
|
|
NM_025219.3(DNAJC5):c.70A>C (p.Lys24Gln)
|
|
|
NM_025219.3(DNAJC5):c.70A>G (p.Lys24Glu)
|
rs1187650085
|
|
NM_025219.3(DNAJC5):c.74A>G (p.Asn25Ser)
|
rs1348706291
|
|
NM_025219.3(DNAJC5):c.86A>G (p.Asp29Gly)
|
rs1374320528
|
|
NM_025219.3(DNAJC5):c.87T>G (p.Asp29Glu)
|
rs1555879894
|
|
NM_025219.3(DNAJC5):c.8A>G (p.Asp3Gly)
|
rs755410138
|
|
NM_025219.3(DNAJC5):c.96A>G (p.Lys32=)
|
rs2146303986
|
|
NM_025219.3(DNAJC5):c.99G>A (p.Lys33=)
|
rs2146303993
|
|
NM_025219.3(DNAJC5):c.9C>T (p.Asp3=)
|
|
|