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_000391.4(TPP1):c.*1628G>A
|
rs7488
|
0.76311
|
NM_000520.6(HEXA):c.*589T>G
|
rs11629508
|
0.73205
|
NM_000520.6(HEXA):c.*515G>A
|
rs3087652
|
0.73188
|
NM_000521.4(HEXB):c.-126C>T
|
rs71627068
|
0.55186
|
NM_000521.4(HEXB):c.-122del
|
rs70976124
|
0.55177
|
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)
|
rs2076603
|
0.55111
|
NM_017882.3(CLN6):c.*817C>T
|
rs8142
|
0.51081
|
NM_000391.4(TPP1):c.*1588C>T
|
rs7487
|
0.44955
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)
|
rs9435659
|
0.40884
|
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)
|
rs3170740
|
0.40860
|
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)
|
rs9435662
|
0.40757
|
NM_000391.4(TPP1):c.*1118G>C
|
rs1045450
|
0.27054
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
NM_001909.5(CTSD):c.*67A>G
|
rs12214
|
0.21384
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)
|
rs3738815
|
0.20463
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
NM_025219.3(DNAJC5):c.*2912C>T
|
rs749723
|
0.17505
|
NM_001909.5(CTSD):c.*597A>C
|
rs8839
|
0.14604
|
NM_017882.3(CLN6):c.*42T>G
|
rs754655363
|
0.14249
|
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_025219.3(DNAJC5):c.*1442A>G
|
rs61744085
|
0.08435
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
NM_025219.3(DNAJC5):c.*1648C>T
|
rs41278222
|
0.08304
|
NM_025219.3(DNAJC5):c.*2711G>A
|
rs76291580
|
0.08294
|
NM_025219.3(DNAJC5):c.*1106T>G
|
rs11554629
|
0.08271
|
NM_025219.3(DNAJC5):c.*2701C>T
|
rs3206771
|
0.08172
|
NM_025219.3(DNAJC5):c.322-10C>T
|
rs78457562
|
0.07717
|
NM_017882.3(CLN6):c.*1015T>C
|
rs6494720
|
0.07280
|
NM_017882.3(CLN6):c.*690A>G
|
rs8033190
|
0.07262
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_025219.3(DNAJC5):c.*1303C>T
|
rs41278214
|
0.06711
|
NM_025219.3(DNAJC5):c.*2725G>A
|
rs11554628
|
0.06691
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
0.06127
|
NM_025219.3(DNAJC5):c.*2208C>T
|
rs11554631
|
0.06117
|
NM_025219.3(DNAJC5):c.*2601C>T
|
rs112103063
|
0.06085
|
NM_000520.6(HEXA):c.*630A>G
|
rs35949555
|
0.05706
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
NM_022089.4(ATP13A2):c.*124C>T
|
rs15786
|
0.04122
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_025219.3(DNAJC5):c.*4007G>C
|
rs77777268
|
0.02556
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_025219.3(DNAJC5):c.*4385A>T
|
rs77335831
|
0.01815
|
NM_025219.3(DNAJC5):c.*4300C>T
|
rs41278224
|
0.01781
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
NM_001909.5(CTSD):c.*300G>A
|
rs113940256
|
0.01455
|
NM_000520.6(HEXA):c.*575G>A
|
rs76075374
|
0.01411
|
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)
|
rs113987077
|
0.01342
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_025219.3(DNAJC5):c.*3670A>G
|
rs77107548
|
0.01329
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_025219.3(DNAJC5):c.*4117C>T
|
rs11554630
|
0.01268
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
NM_000391.4(TPP1):c.*71G>A
|
rs140680586
|
0.01221
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_025219.3(DNAJC5):c.*895C>G
|
rs1064345
|
0.01026
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_001042432.2(CLN3):c.*155A>C
|
rs113112766
|
0.00886
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)
|
rs112812685
|
0.00817
|
NM_000784.3(CYP27A1):c.-370T>C
|
rs182545847
|
0.00800
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_017882.3(CLN6):c.*667G>A
|
rs111879561
|
0.00596
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_025219.3(DNAJC5):c.*3629A>G
|
rs73136585
|
0.00578
|
NM_017882.3(CLN6):c.*646C>G
|
rs144976448
|
0.00573
|
NM_000521.4(HEXB):c.276C>T (p.Thr92=)
|
rs140509633
|
0.00569
|
NM_025219.3(DNAJC5):c.*2878T>C
|
rs749724
|
0.00565
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)
|
rs2734715
|
0.00549
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_017882.3(CLN6):c.*393G>A
|
rs114833125
|
0.00546
|
NM_022089.4(ATP13A2):c.*140C>G
|
rs557545457
|
0.00509
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001909.5(CTSD):c.*19G>A
|
rs201434721
|
0.00493
|
NM_025219.3(DNAJC5):c.*817C>T
|
rs114525694
|
0.00491
|
NM_000520.5(HEXA):c.-59G>A
|
rs147174351
|
0.00489
|
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala)
|
rs61734958
|
0.00485
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
NM_000391.4(TPP1):c.*986C>G
|
rs188148381
|
0.00455
|
NM_025219.3(DNAJC5):c.*1364C>T
|
rs61735744
|
0.00449
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_022089.4(ATP13A2):c.*120A>T
|
rs41273151
|
0.00422
|
NM_022089.4(ATP13A2):c.*231G>A
|
rs76298930
|
0.00409
|
NM_000521.4(HEXB):c.*40A>C
|
rs184908092
|
0.00397
|
NM_025219.3(DNAJC5):c.*909G>T
|
rs114038171
|
0.00395
|
NM_000391.4(TPP1):c.*1540T>C
|
rs374146578
|
0.00387
|
NM_017882.3(CLN6):c.*75G>C
|
rs57058289
|
0.00367
|
NM_000784.3(CYP27A1):c.-205C>A
|
rs187723732
|
0.00357
|
NM_025219.3(DNAJC5):c.*1235C>T
|
rs149675982
|
0.00347
|
NM_025219.3(DNAJC5):c.*3995A>G
|
rs115323539
|
0.00344
|
NM_017882.3(CLN6):c.*934G>T
|
rs114551417
|
0.00341
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_000391.4(TPP1):c.1396G>A (p.Val466Met)
|
rs78970155
|
0.00339
|
NM_025219.3(DNAJC5):c.*1342G>A
|
rs41278218
|
0.00334
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_017882.3(CLN6):c.*655C>T
|
rs571329883
|
0.00316
|
NM_001042432.2(CLN3):c.-129G>C
|
rs141305257
|
0.00315
|
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_025219.3(DNAJC5):c.*373G>A
|
rs188304560
|
0.00290
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_000520.6(HEXA):c.*76G>A
|
rs558918292
|
0.00277
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_001909.5(CTSD):c.*509C>T
|
rs780680894
|
0.00255
|
NM_025219.3(DNAJC5):c.*3204C>T
|
rs140377993
|
0.00248
|
NM_025219.3(DNAJC5):c.*1820C>A
|
rs182604967
|
0.00237
|
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)
|
rs115985012
|
0.00228
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_022089.4(ATP13A2):c.*130C>T
|
rs189334432
|
0.00217
|
NM_000391.4(TPP1):c.*1250T>A
|
rs193029892
|
0.00215
|
NM_001909.5(CTSD):c.951C>T (p.Ala317=)
|
rs78306946
|
0.00211
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_025219.3(DNAJC5):c.*1183G>T
|
rs562364964
|
0.00208
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000391.4(TPP1):c.*1570C>T
|
rs369352772
|
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_022089.4(ATP13A2):c.3406-14C>T
|
rs139088170
|
0.00163
|
NM_001909.5(CTSD):c.*210C>G
|
rs528911846
|
0.00156
|
NM_025219.3(DNAJC5):c.*158A>T
|
rs41278210
|
0.00148
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_025219.3(DNAJC5):c.*750G>T
|
rs140106848
|
0.00140
|
NM_025219.3(DNAJC5):c.*195G>A
|
rs180676568
|
0.00135
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_000784.3(CYP27A1):c.-335C>T
|
rs528284503
|
0.00128
|
NM_022089.4(ATP13A2):c.706-14C>T
|
rs371532404
|
0.00128
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_025219.3(DNAJC5):c.*1433G>A
|
rs41278220
|
0.00125
|
NM_001909.5(CTSD):c.*694G>A
|
rs751538234
|
0.00116
|
NM_022089.4(ATP13A2):c.-170C>T
|
rs150122517
|
0.00116
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_025219.3(DNAJC5):c.*1220G>A
|
rs73136582
|
0.00115
|
NM_025219.3(DNAJC5):c.*1556A>G
|
rs58526294
|
0.00108
|
NM_025219.3(DNAJC5):c.*3269C>G
|
rs528394634
|
0.00107
|
NM_025219.3(DNAJC5):c.*2218A>G
|
rs142121195
|
0.00106
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_025219.3(DNAJC5):c.-109A>G
|
rs750302498
|
0.00102
|
NM_017882.3(CLN6):c.*1103G>A
|
rs147362516
|
0.00101
|
NM_025219.3(DNAJC5):c.*2790C>T
|
rs55665472
|
0.00101
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_001042432.1(CLN3):c.-264C>G
|
rs187163584
|
0.00096
|
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_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_025219.3(DNAJC5):c.*4006C>T
|
rs138866062
|
0.00079
|
NM_025219.3(DNAJC5):c.*736G>A
|
rs552739074
|
0.00078
|
NM_025219.3(DNAJC5):c.*4065G>A
|
rs373099874
|
0.00076
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_025219.3(DNAJC5):c.107+12A>G
|
rs372843187
|
0.00074
|
NM_025219.3(DNAJC5):c.*2039C>T
|
rs79245733
|
0.00073
|
NM_025219.3(DNAJC5):c.*3413A>G
|
rs150408300
|
0.00071
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)
|
rs144141585
|
0.00066
|
NM_001042432.2(CLN3):c.*55C>A
|
rs199979207
|
0.00065
|
NM_000391.4(TPP1):c.*829C>T
|
rs533616443
|
0.00062
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_017882.3(CLN6):c.*312C>T
|
rs747144655
|
0.00060
|
NM_025219.3(DNAJC5):c.*3480G>C
|
rs577249426
|
0.00060
|
NM_000520.5(HEXA):c.-136G>A
|
rs561320483
|
0.00054
|
NM_022089.4(ATP13A2):c.106-14C>T
|
rs199706883
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
|
rs146798796
|
0.00051
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)
|
rs144708504
|
0.00050
|
NM_025219.3(DNAJC5):c.*1630C>T
|
rs527390994
|
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_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
|
rs145515028
|
0.00044
|
NM_000391.4(TPP1):c.*1282C>A
|
rs1032115129
|
0.00042
|
NM_000520.6(HEXA):c.*436C>T
|
rs112626309
|
0.00042
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_000391.4(TPP1):c.*312T>C
|
rs201122774
|
0.00041
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
NM_017882.3(CLN6):c.*131G>T
|
rs556392570
|
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_017882.3(CLN6):c.*882C>T
|
rs766413849
|
0.00039
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_017882.3(CLN6):c.-38C>T
|
rs756496671
|
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.1203C>T (p.Cys401=)
|
rs148026506
|
0.00035
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
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_025219.3(DNAJC5):c.*4129G>C
|
rs191412647
|
0.00034
|
NM_001909.5(CTSD):c.*736C>G
|
rs577842141
|
0.00032
|
NM_025219.3(DNAJC5):c.*4131C>T
|
rs146360147
|
0.00032
|
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_022089.4(ATP13A2):c.1128C>T (p.Cys376=)
|
rs148970081
|
0.00031
|
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)
|
rs199994961
|
0.00030
|
NM_000391.4(TPP1):c.*241T>C
|
rs74843914
|
0.00029
|
NM_000520.6(HEXA):c.*355C>G
|
rs188399769
|
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_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
NM_000784.4(CYP27A1):c.*47G>A
|
rs140059093
|
0.00028
|
NM_022089.4(ATP13A2):c.*243A>C
|
rs777596557
|
0.00028
|
NM_025219.3(DNAJC5):c.*274C>T
|
rs762734761
|
0.00028
|
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)
|
rs143517230
|
0.00026
|
NM_017882.3(CLN6):c.*284C>T
|
rs536039114
|
0.00026
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
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_025219.3(DNAJC5):c.*4387C>G
|
rs550273913
|
0.00023
|
NM_000784.4(CYP27A1):c.*195G>C
|
rs886055632
|
0.00022
|
NM_001909.5(CTSD):c.*358C>T
|
rs542969755
|
0.00022
|
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr)
|
rs146198681
|
0.00022
|
NM_000391.4(TPP1):c.*223T>C
|
rs538963672
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=)
|
rs61741838
|
0.00021
|
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.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)
|
rs147641822
|
0.00019
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)
|
rs144770450
|
0.00017
|
NM_025219.3(DNAJC5):c.*3839G>A
|
rs145028189
|
0.00017
|
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys)
|
rs143635580
|
0.00016
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
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.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_025219.3(DNAJC5):c.*3432G>A
|
rs1051821
|
0.00016
|
NM_000391.4(TPP1):c.*1774G>A
|
rs886048532
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_022089.4(ATP13A2):c.*58A>G
|
rs369126613
|
0.00015
|
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp)
|
rs142616130
|
0.00015
|
NM_025219.3(DNAJC5):c.*1182C>T
|
rs753503517
|
0.00015
|
NM_001042432.2(CLN3):c.*200A>G
|
rs561135374
|
0.00014
|
NM_001909.5(CTSD):c.*403C>T
|
rs140852332
|
0.00014
|
NM_001909.5(CTSD):c.*494C>T
|
rs551867617
|
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_025219.3(DNAJC5):c.*3116T>A
|
rs886056949
|
0.00014
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
|
rs202073338
|
0.00013
|
NM_017882.3(CLN6):c.*246G>A
|
rs886051441
|
0.00013
|
NM_017882.3(CLN6):c.*69G>T
|
rs761969677
|
0.00013
|
NM_025219.3(DNAJC5):c.*3375C>T
|
rs886056951
|
0.00013
|
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.90G>A (p.Thr30=)
|
rs368529527
|
0.00012
|
NM_017882.3(CLN6):c.*1023G>A
|
rs760989550
|
0.00012
|
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)
|
rs369863178
|
0.00012
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
NM_017882.3(CLN6):c.*991C>A
|
rs537819492
|
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_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_025219.3(DNAJC5):c.*3213G>A
|
rs902946721
|
0.00011
|
NM_025219.3(DNAJC5):c.*3550C>T
|
rs546308193
|
0.00011
|
NM_000391.4(TPP1):c.*346A>G
|
rs149218047
|
0.00010
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001042432.2(CLN3):c.-41C>A
|
rs370217726
|
0.00010
|
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)
|
rs764386803
|
0.00010
|
NM_025219.3(DNAJC5):c.*2933C>T
|
rs886056946
|
0.00010
|
NM_000391.4(TPP1):c.*1478T>A
|
rs775934269
|
0.00009
|
NM_000391.4(TPP1):c.*704C>T
|
rs1033619913
|
0.00009
|
NM_000520.5(HEXA):c.-141G>A
|
rs886051462
|
0.00009
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000521.3(HEXB):c.-52C>A
|
rs886060748
|
0.00009
|
NM_001042432.2(CLN3):c.*78G>A
|
rs751235567
|
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_001909.5(CTSD):c.-24C>T
|
rs587780917
|
0.00009
|
NM_017882.3(CLN6):c.*1109G>A
|
rs560713030
|
0.00009
|
NM_017882.3(CLN6):c.298-15C>T
|
rs368661456
|
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_025219.3(DNAJC5):c.*4036G>A
|
rs758582743
|
0.00009
|
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)
|
rs377369610
|
0.00008
|
NM_001909.5(CTSD):c.*130G>A
|
rs1002940636
|
0.00008
|
NM_017882.3(CLN6):c.*470C>T
|
rs565006193
|
0.00008
|
NM_017882.3(CLN6):c.*481T>G
|
rs746416658
|
0.00008
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
NM_025219.3(DNAJC5):c.*1557T>G
|
rs542172964
|
0.00008
|
NM_025219.3(DNAJC5):c.*322G>A
|
rs143646564
|
0.00008
|
NM_025219.3(DNAJC5):c.*728G>A
|
rs150670642
|
0.00008
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp)
|
rs149463616
|
0.00007
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001909.5(CTSD):c.*398G>A
|
rs776662882
|
0.00007
|
NM_017882.3(CLN6):c.*175C>T
|
rs886051444
|
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.3539G>A (p.Arg1180Lys)
|
rs771312962
|
0.00007
|
NM_025219.3(DNAJC5):c.-186C>T
|
rs886056927
|
0.00007
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000391.4(TPP1):c.*1428T>C
|
rs188544089
|
0.00006
|
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
|
rs748686068
|
0.00006
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
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_001909.5(CTSD):c.1084G>A (p.Gly362Arg)
|
rs746733183
|
0.00006
|
NM_017882.3(CLN6):c.*179G>C
|
rs886051443
|
0.00006
|
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys)
|
rs202226970
|
0.00006
|
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
|
rs368546281
|
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.3257C>T (p.Ala1086Val)
|
rs370677966
|
0.00006
|
NM_025219.3(DNAJC5):c.*1079T>C
|
rs370539010
|
0.00006
|
NM_025219.3(DNAJC5):c.*1927G>A
|
rs187307345
|
0.00006
|
NM_025219.3(DNAJC5):c.*2563A>C
|
rs188604040
|
0.00006
|
NM_025219.3(DNAJC5):c.*276C>T
|
rs764108980
|
0.00006
|
NM_025219.3(DNAJC5):c.-95G>C
|
rs886056932
|
0.00006
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)
|
rs373034150
|
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_025219.3(DNAJC5):c.*1643T>C
|
rs142546412
|
0.00005
|
NM_025219.3(DNAJC5):c.*1934T>G
|
rs768056284
|
0.00005
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000391.4(TPP1):c.*785T>G
|
rs764323122
|
0.00004
|
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp)
|
rs778900807
|
0.00004
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
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_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_001042432.2(CLN3):c.*29A>G
|
rs778438984
|
0.00004
|
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=)
|
rs376478363
|
0.00004
|
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met)
|
rs775999656
|
0.00004
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
NM_001909.5(CTSD):c.*117C>T
|
rs527778631
|
0.00004
|
NM_001909.5(CTSD):c.*390G>A
|
rs1262477522
|
0.00004
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_017882.3(CLN6):c.-101A>G
|
rs555985698
|
0.00004
|
NM_017882.3(CLN6):c.259A>G (p.Met87Val)
|
rs532180601
|
0.00004
|
NM_022089.4(ATP13A2):c.*155C>T
|
rs762111359
|
0.00004
|
NM_022089.4(ATP13A2):c.-151C>T
|
rs886045583
|
0.00004
|
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)
|
rs747785443
|
0.00004
|
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His)
|
rs745954026
|
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_025219.3(DNAJC5):c.*1304G>A
|
rs865818369
|
0.00004
|
NM_025219.3(DNAJC5):c.*2171G>A
|
rs185288496
|
0.00004
|
NM_025219.3(DNAJC5):c.*2993C>T
|
rs886056947
|
0.00004
|
NM_025219.3(DNAJC5):c.108-3C>T
|
rs541118679
|
0.00004
|
NM_000391.4(TPP1):c.*44T>A
|
rs370517226
|
0.00003
|
NM_000520.5(HEXA):c.-181T>C
|
rs886051463
|
0.00003
|
NM_000521.3(HEXB):c.-62G>A
|
rs1045177384
|
0.00003
|
NM_000521.4(HEXB):c.-14G>A
|
rs886060749
|
0.00003
|
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn)
|
rs775027289
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)
|
rs376907245
|
0.00003
|
NM_001042432.2(CLN3):c.47-3C>T
|
rs377583228
|
0.00003
|
NM_001909.5(CTSD):c.*654C>T
|
rs148490566
|
0.00003
|
NM_001909.5(CTSD):c.-37G>A
|
rs756112449
|
0.00003
|
NM_017882.3(CLN6):c.-92C>T
|
rs942971560
|
0.00003
|
NM_017882.3(CLN6):c.831C>T (p.Val277=)
|
rs753344266
|
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.42C>T (p.Thr14=)
|
rs371850140
|
0.00003
|
NM_025219.3(DNAJC5):c.*1391G>A
|
rs886056944
|
0.00003
|
NM_025219.3(DNAJC5):c.-185G>T
|
rs886056928
|
0.00003
|
NM_000391.4(TPP1):c.*1560C>T
|
rs541932361
|
0.00002
|
NM_000391.4(TPP1):c.*984T>A
|
rs1000719227
|
0.00002
|
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)
|
rs577520250
|
0.00002
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln)
|
rs796053441
|
0.00002
|
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr)
|
rs756218457
|
0.00002
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
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.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
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_001042432.2(CLN3):c.*187G>A
|
rs867117606
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)
|
rs764881080
|
0.00002
|
NM_001909.5(CTSD):c.*356C>G
|
rs886048062
|
0.00002
|
NM_017882.3(CLN6):c.*725C>T
|
rs369225795
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_017882.3(CLN6):c.666-3C>T
|
rs761161043
|
0.00002
|
NM_022089.4(ATP13A2):c.1112G>A (p.Arg371Gln)
|
rs779347442
|
0.00002
|
NM_022089.4(ATP13A2):c.1307-14C>T
|
rs370771306
|
0.00002
|
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met)
|
rs752000462
|
0.00002
|
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln)
|
rs766899425
|
0.00002
|
NM_025219.3(DNAJC5):c.*1915C>T
|
rs1044082802
|
0.00002
|
NM_025219.3(DNAJC5):c.*2633G>A
|
rs533825911
|
0.00002
|
NM_025219.3(DNAJC5):c.*286G>A
|
rs886056940
|
0.00002
|
NM_025219.3(DNAJC5):c.*3870G>A
|
rs886056953
|
0.00002
|
NM_025219.3(DNAJC5):c.*4317G>A
|
rs911426732
|
0.00002
|
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=)
|
rs781164296
|
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_000391.4(TPP1):c.*1634T>C
|
rs886048534
|
0.00001
|
NM_000391.4(TPP1):c.*171T>C
|
rs953806091
|
0.00001
|
NM_000391.4(TPP1):c.*716C>A
|
rs957511928
|
0.00001
|
NM_000391.4(TPP1):c.*937C>T
|
rs1339024138
|
0.00001
|
NM_000391.4(TPP1):c.-21G>A
|
rs760667554
|
0.00001
|
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe)
|
rs149319579
|
0.00001
|
NM_000391.4(TPP1):c.1552-14A>C
|
rs1006965532
|
0.00001
|
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro)
|
rs757507462
|
0.00001
|
NM_000391.4(TPP1):c.734G>A (p.Arg245His)
|
rs754161261
|
0.00001
|
NM_000391.4(TPP1):c.993C>T (p.Ser331=)
|
rs1855585414
|
0.00001
|
NM_000520.5(HEXA):c.-207A>G
|
rs886051464
|
0.00001
|
NM_000520.6(HEXA):c.*12C>T
|
rs532797279
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys)
|
rs756740656
|
0.00001
|
NM_000521.4(HEXB):c.*105T>C
|
rs777009900
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln)
|
rs751678693
|
0.00001
|
NM_000784.3(CYP27A1):c.-162C>T
|
rs886055629
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_001042432.1(CLN3):c.-364C>T
|
rs1422231105
|
0.00001
|
NM_001042432.2(CLN3):c.*205G>A
|
rs757923800
|
0.00001
|
NM_001042432.2(CLN3):c.*58A>C
|
rs142958639
|
0.00001
|
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)
|
rs150986176
|
0.00001
|
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val)
|
rs760039703
|
0.00001
|
NM_001042432.2(CLN3):c.327C>T (p.Leu109=)
|
rs748293490
|
0.00001
|
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)
|
rs371590088
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr)
|
rs745948575
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.941G>A (p.Ser314Asn)
|
rs769358990
|
0.00001
|
NM_001909.5(CTSD):c.*200C>G
|
rs1176741600
|
0.00001
|
NM_001909.5(CTSD):c.*330G>T
|
rs955942954
|
0.00001
|
NM_001909.5(CTSD):c.-3G>T
|
rs541792699
|
0.00001
|
NM_001909.5(CTSD):c.-47A>G
|
rs886048067
|
0.00001
|
NM_001909.5(CTSD):c.-53C>T
|
rs530324803
|
0.00001
|
NM_001909.5(CTSD):c.1116C>T (p.Gly372=)
|
rs557342549
|
0.00001
|
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
|
rs554062876
|
0.00001
|
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)
|
rs764766572
|
0.00001
|
NM_017882.3(CLN6):c.*300C>T
|
rs886051439
|
0.00001
|
NM_017882.3(CLN6):c.*446C>T
|
rs1249079296
|
0.00001
|
NM_017882.3(CLN6):c.*532T>A
|
rs886051437
|
0.00001
|
NM_017882.3(CLN6):c.*749T>C
|
rs1189755650
|
0.00001
|
NM_017882.3(CLN6):c.-22C>A
|
rs886051448
|
0.00001
|
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)
|
rs545955828
|
0.00001
|
NM_022089.4(ATP13A2):c.*182C>T
|
rs970274162
|
0.00001
|
NM_022089.4(ATP13A2):c.-99G>C
|
rs569658051
|
0.00001
|
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=)
|
rs750819290
|
0.00001
|
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)
|
rs764435162
|
0.00001
|
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala)
|
rs530658980
|
0.00001
|
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser)
|
rs886045581
|
0.00001
|
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn)
|
rs750921184
|
0.00001
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
NM_022089.4(ATP13A2):c.2252-11A>G
|
rs775547036
|
0.00001
|
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr)
|
rs151222153
|
0.00001
|
NM_022089.4(ATP13A2):c.2440G>A (p.Val814Met)
|
rs748454159
|
0.00001
|
NM_022089.4(ATP13A2):c.2609+10C>T
|
rs759204814
|
0.00001
|
NM_022089.4(ATP13A2):c.2770C>T (p.Arg924Cys)
|
rs567866687
|
0.00001
|
NM_022089.4(ATP13A2):c.3235+15G>A
|
rs761031832
|
0.00001
|
NM_022089.4(ATP13A2):c.515G>A (p.Arg172His)
|
rs776601823
|
0.00001
|
NM_025219.3(DNAJC5):c.*1137A>G
|
rs886056943
|
0.00001
|
NM_025219.3(DNAJC5):c.*1604C>T
|
rs554749952
|
0.00001
|
NM_025219.3(DNAJC5):c.*1873C>T
|
rs1349641328
|
0.00001
|
NM_025219.3(DNAJC5):c.*1893C>A
|
rs1315620182
|
0.00001
|
NM_025219.3(DNAJC5):c.*1936T>C
|
rs574966040
|
0.00001
|
NM_025219.3(DNAJC5):c.*2545C>G
|
rs577579444
|
0.00001
|
NM_025219.3(DNAJC5):c.*4057C>T
|
rs886056954
|
0.00001
|
NM_025219.3(DNAJC5):c.*4375C>T
|
rs1465625052
|
0.00001
|
NM_025219.3(DNAJC5):c.*686C>T
|
rs886056942
|
0.00001
|
NM_025219.3(DNAJC5):c.*80A>G
|
rs886056936
|
0.00001
|
NM_025219.3(DNAJC5):c.*944A>T
|
rs774407862
|
0.00001
|
NM_025219.3(DNAJC5):c.-12+11T>A
|
rs1216840252
|
0.00001
|
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)
|
rs528096976
|
0.00001
|
NM_000391.4(TPP1):c.*1000T>C
|
rs886048538
|
|
NM_000391.4(TPP1):c.*1108T>C
|
rs1855527274
|
|
NM_000391.4(TPP1):c.*124C>T
|
rs985151429
|
|
NM_000391.4(TPP1):c.*1302A>T
|
rs886048537
|
|
NM_000391.4(TPP1):c.*1311C>T
|
rs886048536
|
|
NM_000391.4(TPP1):c.*1508G>A
|
rs561558362
|
|
NM_000391.4(TPP1):c.*1741G>T
|
rs1299016829
|
|
NM_000391.4(TPP1):c.1116C>T (p.His372=)
|
rs751321300
|
|
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn)
|
rs202025584
|
|
NM_000391.4(TPP1):c.886+7C>T
|
rs886048543
|
|
NM_000520.6(HEXA):c.*200T>C
|
rs886051461
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000521.3(HEXB):c.-63G>A
|
rs1748827834
|
|
NM_000521.4(HEXB):c.*82_*83del
|
rs56312827
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.669G>A (p.Leu223=)
|
rs773385077
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)
|
rs886060750
|
|
NM_000784.3(CYP27A1):c.-182C>T
|
rs886055628
|
|
NM_000784.3(CYP27A1):c.-357dup
|
rs397795841
|
|
NM_000784.4(CYP27A1):c.*153G>C
|
rs886055631
|
|
NM_000784.4(CYP27A1):c.*209G>A
|
rs540140393
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
|
rs1943690611
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.447-3C>T
|
rs770217459
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
|
rs1943740072
|
|
NM_001042432.1(CLN3):c.-210G>T
|
rs2046326373
|
|
NM_001042432.1(CLN3):c.-218G>A
|
rs886051874
|
|
NM_001042432.1(CLN3):c.-279G>C
|
rs1232959828
|
|
NM_001042432.2(CLN3):c.*111G>T
|
rs2046010035
|
|
NM_001042432.2(CLN3):c.-112C>T
|
rs572212180
|
|
NM_001042432.2(CLN3):c.-77+14G>T
|
rs886051873
|
|
NM_001042432.2(CLN3):c.1057-14C>A
|
rs773692029
|
|
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)
|
rs2046022965
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)
|
rs769840061
|
|
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.461-3C>T
|
rs181995380
|
|
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.868G>A (p.Val290Ile)
|
rs369008702
|
|
NM_001909.5(CTSD):c.*133G>A
|
rs1276388326
|
|
NM_001909.5(CTSD):c.*140G>T
|
rs551607350
|
|
NM_001909.5(CTSD):c.*342C>T
|
rs1050822
|
|
NM_001909.5(CTSD):c.*375A>G
|
rs916854972
|
|
NM_001909.5(CTSD):c.*555C>A
|
rs539003212
|
|
NM_001909.5(CTSD):c.*574C>T
|
rs886048061
|
|
NM_001909.5(CTSD):c.*58C>T
|
rs886048063
|
|
NM_001909.5(CTSD):c.*651C>T
|
rs991617803
|
|
NM_001909.5(CTSD):c.*98G>A
|
rs376087786
|
|
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
|
rs1845759906
|
|
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
|
rs796052398
|
|
NM_001909.5(CTSD):c.111G>C (p.Ser37=)
|
rs535140505
|
|
NM_001909.5(CTSD):c.285C>T (p.Val95=)
|
rs1845849997
|
|
NM_001909.5(CTSD):c.315C>A (p.Val105=)
|
rs1845849420
|
|
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)
|
rs1845913488
|
|
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro)
|
rs886048066
|
|
NM_001909.5(CTSD):c.660G>C (p.Gln220His)
|
rs762797920
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
|
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr)
|
rs886048065
|
|
NM_001909.5(CTSD):c.973-8C>A
|
rs886048064
|
|
NM_001909.5(CTSD):c.999C>A (p.Ser333=)
|
rs755867394
|
|
NM_017882.3(CLN6):c.*224T>C
|
rs886051442
|
|
NM_017882.3(CLN6):c.*264T>C
|
rs886051440
|
|
NM_017882.3(CLN6):c.*345C>T
|
rs2093191394
|
|
NM_017882.3(CLN6):c.*526A>G
|
rs886051438
|
|
NM_017882.3(CLN6):c.*887G>T
|
rs886051436
|
|
NM_017882.3(CLN6):c.*88G>A
|
rs886051446
|
|
NM_017882.3(CLN6):c.-108G>C
|
rs865972073
|
|
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser)
|
rs1003606439
|
|
NM_017882.3(CLN6):c.213C>G (p.Leu71=)
|
rs146980624
|
|
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile)
|
rs2093205792
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
NM_017882.3(CLN6):c.487-3C>G
|
rs1468531022
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_017882.3(CLN6):c.66C>T (p.Ala22=)
|
rs796052349
|
|
NM_017882.3(CLN6):c.719C>T (p.Ala240Val)
|
rs2093194119
|
|
NM_017882.3(CLN6):c.83+11G>A
|
rs2093262385
|
|
NM_022089.4(ATP13A2):c.*158T>C
|
rs185521359
|
|
NM_022089.4(ATP13A2):c.*251A>G
|
rs535432261
|
|
NM_022089.4(ATP13A2):c.*9C>A
|
rs773484997
|
|
NM_022089.4(ATP13A2):c.-171G>C
|
rs1350517492
|
|
NM_022089.4(ATP13A2):c.1040-6C>T
|
rs886045582
|
|
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu)
|
rs769588580
|
|
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu)
|
rs373349384
|
|
NM_022089.4(ATP13A2):c.1387G>C (p.Asp463His)
|
rs776550207
|
|
NM_022089.4(ATP13A2):c.1777_1778del (p.Ala594fs)
|
rs1557683241
|
|
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)
|
rs369722835
|
|
NM_022089.4(ATP13A2):c.2517G>C (p.Lys839Asn)
|
rs2076866081
|
|
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr)
|
rs886045579
|
|
NM_022089.4(ATP13A2):c.2808C>T (p.Tyr936=)
|
rs886045578
|
|
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly)
|
rs776148733
|
|
NM_022089.4(ATP13A2):c.2983del (p.Ala995fs)
|
rs1414662479
|
|
NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=)
|
rs538236343
|
|
NM_022089.4(ATP13A2):c.3258G>C (p.Ala1086=)
|
rs377253172
|
|
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe)
|
rs886045577
|
|
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn)
|
rs1326739914
|
|
NM_025219.3(DNAJC5):c.*135C>T
|
rs886056937
|
|
NM_025219.3(DNAJC5):c.*1391G>C
|
rs886056944
|
|
NM_025219.3(DNAJC5):c.*177T>C
|
rs2053674149
|
|
NM_025219.3(DNAJC5):c.*1836C>T
|
rs752208413
|
|
NM_025219.3(DNAJC5):c.*1895C>G
|
rs886056945
|
|
NM_025219.3(DNAJC5):c.*2191G>C
|
rs550048168
|
|
NM_025219.3(DNAJC5):c.*2385G>T
|
rs2053695885
|
|
NM_025219.3(DNAJC5):c.*243G>A
|
rs886056938
|
|
NM_025219.3(DNAJC5):c.*2482G>C
|
rs1300822328
|
|
NM_025219.3(DNAJC5):c.*2723A>G
|
rs76769576
|
|
NM_025219.3(DNAJC5):c.*273C>G
|
rs886056939
|
|
NM_025219.3(DNAJC5):c.*2849A>G
|
rs978741488
|
|
NM_025219.3(DNAJC5):c.*2913G>A
|
rs539536316
|
|
NM_025219.3(DNAJC5):c.*2980C>A
|
rs1600892537
|
|
NM_025219.3(DNAJC5):c.*2983C>T
|
rs1251113332
|
|
NM_025219.3(DNAJC5):c.*298C>T
|
rs915298444
|
|
NM_025219.3(DNAJC5):c.*3009G>A
|
rs886056948
|
|
NM_025219.3(DNAJC5):c.*3184G>A
|
rs185738914
|
|
NM_025219.3(DNAJC5):c.*3215C>G
|
rs999925805
|
|
NM_025219.3(DNAJC5):c.*3224C>T
|
rs2053704300
|
|
NM_025219.3(DNAJC5):c.*3239C>T
|
rs886056950
|
|
NM_025219.3(DNAJC5):c.*3252G>A
|
rs545688443
|
|
NM_025219.3(DNAJC5):c.*3608G>C
|
rs2053707906
|
|
NM_025219.3(DNAJC5):c.*4070C>G
|
rs3810500
|
|
NM_025219.3(DNAJC5):c.*4070C>T
|
rs3810500
|
|
NM_025219.3(DNAJC5):c.*412C>T
|
rs886056941
|
|
NM_025219.3(DNAJC5):c.*4253C>G
|
rs886056955
|
|
NM_025219.3(DNAJC5):c.*458G>A
|
rs941396645
|
|
NM_025219.3(DNAJC5):c.*486G>A
|
rs2053677825
|
|
NM_025219.3(DNAJC5):c.*66C>T
|
rs2053672735
|
|
NM_025219.3(DNAJC5):c.*727C>A
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*727C>G
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*853C>A
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.*853C>G
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.*853C>T
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.*948G>A
|
rs867566418
|
|
NM_025219.3(DNAJC5):c.-12+15G>T
|
rs2053366716
|
|
NM_025219.3(DNAJC5):c.-194C>T
|
rs886056925
|
|
NM_025219.3(DNAJC5):c.-89C>G
|
rs886056933
|
|
NM_025219.3(DNAJC5):c.107+8G>T
|
rs2053633876
|
|
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)
|
rs151265913
|
|
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)
|
rs746222594
|
|
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)
|
rs886056935
|
|