NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=)
|
rs721186
|
0.99062
|
NM_004960.3(FUS):c.*1476T>C
|
rs11860134
|
0.98998
|
NM_198994.3(TGM6):c.1968-10C>T
|
rs6036467
|
0.98682
|
NM_025000.4(DCAF17):c.*2340C>T
|
rs888428
|
0.97908
|
NM_004960.4(FUS):c.-54A>G
|
rs929867
|
0.95117
|
NM_198994.3(TGM6):c.172A>G (p.Met58Val)
|
rs2076405
|
0.93204
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
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_014043.4(CHMP2B):c.312T>C (p.Thr104=)
|
rs11540913
|
0.82371
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
NM_031448.6(C19orf12):c.*1686T>C
|
rs7255131
|
0.78821
|
NM_000487.6(ARSA):c.*919A>G
|
rs5770805
|
0.78412
|
NM_000447.3(PSEN2):c.69T>C (p.Ala23=)
|
rs11405
|
0.77636
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_031448.6(C19orf12):c.*2961T>C
|
rs10417597
|
0.76596
|
NM_000391.4(TPP1):c.*1628G>A
|
rs7488
|
0.76311
|
NM_031448.6(C19orf12):c.*3096_*3097insG
|
rs35973369
|
0.76181
|
NM_007126.5(VCP):c.811+3G>A
|
rs514492
|
0.75591
|
NM_000520.6(HEXA):c.*589T>G
|
rs11629508
|
0.73205
|
NM_000520.6(HEXA):c.*515G>A
|
rs3087652
|
0.73188
|
NM_031448.6(C19orf12):c.*881G>A
|
rs3926
|
0.73115
|
NM_031448.6(C19orf12):c.324C>T (p.Thr108=)
|
rs10424582
|
0.72163
|
NM_031448.6(C19orf12):c.*1020C>A
|
rs1140197
|
0.71321
|
NM_000033.4(ABCD1):c.*8G>C
|
rs2229539
|
0.70012
|
NM_000033.3(ABCD1):c.*1035C>T
|
rs6643782
|
0.69879
|
NM_006610.4(MASP2):c.*225T>C
|
rs1033638
|
0.69325
|
NM_006749.5(SLC20A2):c.-305G>A
|
rs2923444
|
0.68776
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_006610.4(MASP2):c.1479C>T (p.Ser493=)
|
rs1782455
|
0.67756
|
NM_006796.3(AFG3L2):c.752+6C>T
|
rs8097342
|
0.67671
|
NM_198994.3(TGM6):c.850+12G>A
|
rs2076404
|
0.61481
|
NM_000021.4(PSEN1):c.*1147C>T
|
rs165935
|
0.61302
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
NM_173500.4(TTBK2):c.-250G>C
|
rs12437637
|
0.57925
|
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_007126.5(VCP):c.1695+8A>G
|
rs684562
|
0.54947
|
NM_033305.3(VPS13A):c.*1024C>T
|
rs9186
|
0.52644
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_017882.3(CLN6):c.*817C>T
|
rs8142
|
0.51081
|
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)
|
rs2228611
|
0.50821
|
NM_001130823.3(DNMT1):c.1832+14A>G
|
rs2114724
|
0.50605
|
NM_000447.3(PSEN2):c.-356A>G
|
rs12758915
|
0.49997
|
NM_024411.4(PDYN):c.-381A>G
|
rs1997794
|
0.49716
|
NM_000447.3(PSEN2):c.*270C>T
|
rs8383
|
0.49189
|
NM_000447.3(PSEN2):c.261C>T (p.His87=)
|
rs1046240
|
0.48653
|
NM_000447.3(PSEN2):c.129C>T (p.Asn43=)
|
rs6759
|
0.48630
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
NM_000033.4(ABCD1):c.*877C>T
|
rs11803
|
0.46252
|
NM_004960.4(FUS):c.291C>T (p.Tyr97=)
|
rs1052352
|
0.45484
|
NM_000391.4(TPP1):c.*1588C>T
|
rs7487
|
0.44955
|
NM_031448.6(C19orf12):c.*1114C>G
|
rs1048123
|
0.44699
|
NM_198994.3(TGM6):c.*31T>C
|
rs2076652
|
0.44571
|
NM_198994.3(TGM6):c.1968-11C>T
|
rs2076653
|
0.44564
|
NM_000033.4(ABCD1):c.*894G>A
|
rs1055847
|
0.44006
|
NM_031448.6(C19orf12):c.*1144C>T
|
rs9566
|
0.41904
|
NM_000487.6(ARSA):c.*682G>C
|
rs7288338
|
0.41670
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
NM_002087.4(GRN):c.*78C>T
|
rs5848
|
0.41298
|
NM_000487.6(ARSA):c.*855G>A
|
rs7288050
|
0.41126
|
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_033305.3(VPS13A):c.9069A>G (p.Gly3023=)
|
rs3737289
|
0.40290
|
NM_002739.5(PRKCG):c.686+14G>T
|
rs3745405
|
0.36258
|
NM_024411.5(PDYN):c.*1030C>T
|
rs2235749
|
0.36165
|
NM_002739.5(PRKCG):c.567T>C (p.Asn189=)
|
rs3745406
|
0.35855
|
NM_024411.5(PDYN):c.*743T>C
|
rs910080
|
0.35005
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_000096.4(CP):c.2662-12T>C
|
rs16861582
|
0.33387
|
NM_000306.4(POU1F1):c.*140A>T
|
rs33936108
|
0.33253
|
NM_000096.4(CP):c.2286-15del
|
rs143522213
|
0.30978
|
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30736
|
NM_033305.3(VPS13A):c.*1378C>A
|
rs13286867
|
0.30192
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_000487.6(ARSA):c.*635G>A
|
rs5770953
|
0.29302
|
NM_004115.4(FGF14):c.*1612G>T
|
rs1046197
|
0.28765
|
NM_025000.4(DCAF17):c.150C>T (p.Val50=)
|
rs6751956
|
0.28531
|
NM_006796.3(AFG3L2):c.*28G>C
|
rs1129115
|
0.28281
|
NM_000391.4(TPP1):c.*1118G>C
|
rs1045450
|
0.27054
|
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
|
rs2306877
|
0.26698
|
NM_198994.3(TGM6):c.1476G>A (p.Lys492=)
|
rs2295077
|
0.26375
|
NM_000487.6(ARSA):c.*1522C>A
|
rs6009939
|
0.26325
|
NM_025000.4(DCAF17):c.*2795T>C
|
rs17221346
|
0.24511
|
NM_004960.3(FUS):c.*770G>C
|
rs4889537
|
0.24493
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_000021.4(PSEN1):c.*3722C>T
|
rs362344
|
0.24215
|
NM_004960.4(FUS):c.147C>A (p.Gly49=)
|
rs741810
|
0.24179
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
NM_014043.4(CHMP2B):c.*1589G>A
|
rs1060241
|
0.22762
|
NM_018325.5(C9orf72):c.*1344C>T
|
rs13691
|
0.21385
|
NM_001909.5(CTSD):c.*67A>G
|
rs12214
|
0.21384
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_018325.5(C9orf72):c.*1406T>C
|
rs9103
|
0.20796
|
NM_018325.5(C9orf72):c.870C>T (p.Ser290=)
|
rs10122902
|
0.20696
|
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)
|
rs3738815
|
0.20463
|
NM_001257180.2(SLC20A2):c.*1057C>G
|
rs6841
|
0.20257
|
NM_018325.5(C9orf72):c.-27G>A
|
rs10757668
|
0.20162
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_000033.4(ABCD1):c.*608G>A
|
rs73640819
|
0.19859
|
NM_025000.4(DCAF17):c.*3112C>G
|
rs17221367
|
0.19832
|
NM_025000.4(DCAF17):c.999A>G (p.Gln333=)
|
rs3731983
|
0.19825
|
NM_025000.4(DCAF17):c.*570G>A
|
rs3795998
|
0.19821
|
NM_025000.4(DCAF17):c.*3703A>G
|
rs9789572
|
0.19820
|
NM_025000.4(DCAF17):c.*676T>G
|
rs3821084
|
0.19818
|
NM_033305.3(VPS13A):c.*222G>A
|
rs12343797
|
0.19772
|
NM_025000.4(DCAF17):c.1267-7C>T
|
rs3731981
|
0.19769
|
NM_025000.4(DCAF17):c.*2425T>A
|
rs12151641
|
0.19764
|
NM_000096.4(CP):c.*769G>A
|
rs1053669
|
0.19723
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_007126.5(VCP):c.*153G>T
|
rs1053318
|
0.19091
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)
|
rs7025532
|
0.18911
|
NM_018325.5(C9orf72):c.*921C>A
|
rs3739526
|
0.18576
|
NM_025219.3(DNAJC5):c.*2912C>T
|
rs749723
|
0.17505
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_024411.5(PDYN):c.600T>C (p.His200=)
|
rs6045819
|
0.16142
|
NM_001031726.3(C19orf12):c.*3819T>G
|
rs11879584
|
0.16068
|
NM_001386393.1(PANK2):c.1083-14_1083-9dup
|
rs10679953
|
0.15963
|
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)
|
rs506028
|
0.15920
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_000447.3(PSEN2):c.-275C>T
|
rs1295645
|
0.15385
|
NM_031448.6(C19orf12):c.*1219C>T
|
rs1129852
|
0.15013
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_001909.5(CTSD):c.*597A>C
|
rs8839
|
0.14604
|
NM_033305.3(VPS13A):c.6378+15A>T
|
rs12348097
|
0.14593
|
NM_000021.4(PSEN1):c.*947G>A
|
rs7523
|
0.14277
|
NM_006796.3(AFG3L2):c.-96G>C
|
rs12327346
|
0.14255
|
NM_017882.3(CLN6):c.*42T>G
|
rs754655363
|
0.14249
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_000306.4(POU1F1):c.*139T>A
|
rs4988463
|
0.13634
|
NM_000487.6(ARSA):c.*741C>T
|
rs8142033
|
0.13503
|
NC_000001.11:g.11012634G>A
|
rs11121679
|
0.13475
|
NM_198994.3(TGM6):c.789G>A (p.Lys263=)
|
rs6114033
|
0.13293
|
NM_001378452.1(ITPR1):c.1151+5C>G
|
rs2306868
|
0.13045
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_002778.4(PSAP):c.-4C>T
|
rs2070188
|
0.12811
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_024411.5(PDYN):c.*656T>C
|
rs10485703
|
0.12279
|
NM_000487.6(ARSA):c.*340T>A
|
rs5741862
|
0.11788
|
NM_032383.5(HPS3):c.*172G>A
|
rs34511277
|
0.11672
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_032383.5(HPS3):c.*128A>G
|
rs73019023
|
0.11195
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val)
|
rs2228612
|
0.10575
|
NM_033305.2(VPS13A):c.-181G>A
|
rs117488726
|
0.10492
|
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)
|
rs11145366
|
0.10477
|
NM_000021.4(PSEN1):c.*3632G>A
|
rs362393
|
0.10183
|
NM_031448.6(C19orf12):c.*2100G>T
|
rs74854677
|
0.09891
|
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser)
|
rs17769294
|
0.09705
|
NM_000487.6(ARSA):c.-345G>C
|
rs6151406
|
0.09453
|
NM_000033.4(ABCD1):c.-59C>T
|
rs4148030
|
0.09150
|
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)
|
rs2279720
|
0.09131
|
NM_001257180.2(SLC20A2):c.*570G>T
|
rs1803657
|
0.09069
|
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)
|
rs1044499
|
0.09006
|
NM_002103.5(GYS1):c.*725C>T
|
rs1042265
|
0.08927
|
NM_033305.3(VPS13A):c.*565G>A
|
rs989391
|
0.08857
|
NM_173500.4(TTBK2):c.-8G>A
|
rs16957250
|
0.08720
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_000484.4(APP):c.-111G>C
|
rs459543
|
0.08614
|
NM_025219.3(DNAJC5):c.*1442A>G
|
rs61744085
|
0.08435
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)
|
rs41314153
|
0.08321
|
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_000021.4(PSEN1):c.*313C>A
|
rs362384
|
0.08161
|
NM_000447.3(PSEN2):c.-43C>T
|
rs7961
|
0.08031
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
NM_198994.3(TGM6):c.1093+5G>A
|
rs6137891
|
0.07885
|
NM_031448.6(C19orf12):c.*3463G>A
|
rs150123154
|
0.07814
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=)
|
rs17424026
|
0.07721
|
NM_025219.3(DNAJC5):c.322-10C>T
|
rs78457562
|
0.07717
|
NM_000487.6(ARSA):c.*1570C>T
|
rs79823940
|
0.07507
|
NM_000487.6(ARSA):c.*1369C>T
|
rs76841085
|
0.07487
|
NM_001257180.2(SLC20A2):c.*361A>G
|
rs3763510
|
0.07343
|
NM_017882.3(CLN6):c.*1015T>C
|
rs6494720
|
0.07280
|
NM_017882.3(CLN6):c.*690A>G
|
rs8033190
|
0.07262
|
NM_003560.4(PLA2G6):c.87G>A (p.Val29=)
|
rs2267369
|
0.07176
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=)
|
rs2228613
|
0.06881
|
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_173500.4(TTBK2):c.*482C>G
|
rs16957120
|
0.06388
|
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=)
|
rs639938
|
0.06187
|
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_004960.4(FUS):c.190+9T>C
|
rs73530283
|
0.06048
|
NM_004960.3(FUS):c.*1803C>T
|
rs16956408
|
0.06040
|
NM_002739.5(PRKCG):c.*428C>G
|
rs57483118
|
0.06034
|
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=)
|
rs2413502
|
0.05955
|
NM_031448.6(C19orf12):c.*3336C>T
|
rs10414583
|
0.05947
|
NM_000487.6(ARSA):c.459C>T (p.His153=)
|
rs6151412
|
0.05937
|
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=)
|
rs11570679
|
0.05937
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=)
|
rs17340192
|
0.05788
|
NC_000014.9:g.73136423C>T
|
rs1800839
|
0.05747
|
NM_000021.4(PSEN1):c.*2864A>C
|
rs362389
|
0.05717
|
NM_001378452.1(ITPR1):c.*777C>T
|
rs41315884
|
0.05676
|
NM_001378452.1(ITPR1):c.*847G>A
|
rs41304181
|
0.05655
|
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=)
|
rs17423984
|
0.05526
|
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)
|
rs73675069
|
0.05347
|
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)
|
rs6151415
|
0.05295
|
NM_031448.6(C19orf12):c.*1145G>A
|
rs62105840
|
0.05157
|
NM_000096.4(CP):c.782-14C>T
|
rs34067682
|
0.05131
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_000520.6(HEXA):c.*630A>G
|
rs35949555
|
0.05119
|
NM_031448.6(C19orf12):c.*2662C>T
|
rs78094750
|
0.04826
|
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=)
|
rs623022
|
0.04821
|
NM_002087.4(GRN):c.835+7G>A
|
rs72824736
|
0.04753
|
NM_001378452.1(ITPR1):c.1412+11C>T
|
rs7632000
|
0.04752
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901
|
0.04745
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_018325.5(C9orf72):c.*248T>C
|
rs73440933
|
0.04662
|
NM_004115.4(FGF14):c.*1664_*1666del
|
rs141424596
|
0.04549
|
NM_000487.6(ARSA):c.*1746G>A
|
rs73172277
|
0.04494
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
NM_025000.4(DCAF17):c.939G>A (p.Gln313=)
|
rs61731491
|
0.04289
|
NM_000096.4(CP):c.1950A>C (p.Gly650=)
|
rs1053709
|
0.04222
|
NM_025000.4(DCAF17):c.*2473G>A
|
rs57999878
|
0.04194
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
NM_002222.6(ITPR1):c.*1385A>G
|
rs9875113
|
0.04159
|
NM_022089.4(ATP13A2):c.*124C>T
|
rs15786
|
0.04122
|
NM_002739.5(PRKCG):c.*596C>T
|
rs60891969
|
0.04062
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
NM_001378452.1(ITPR1):c.1412+13G>A
|
rs11920643
|
0.04035
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_198994.3(TGM6):c.477C>T (p.Ser159=)
|
rs16984872
|
0.03978
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996
|
0.03685
|
NM_014043.4(CHMP2B):c.*1503G>C
|
rs1060238
|
0.03503
|
NM_000021.4(PSEN1):c.*364T>C
|
rs362385
|
0.03451
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_000447.3(PSEN2):c.903G>T (p.Thr301=)
|
rs6426553
|
0.03334
|
NM_002739.5(PRKCG):c.285C>T (p.Asp95=)
|
rs17854523
|
0.03329
|
NM_004960.4(FUS):c.153C>T (p.Gly51=)
|
rs61733962
|
0.03329
|
NM_002739.5(PRKCG):c.207C>T (p.Cys69=)
|
rs307955
|
0.03300
|
NM_004960.3(FUS):c.*491T>G
|
rs73530293
|
0.03268
|
NM_001378452.1(ITPR1):c.-81A>G
|
rs13319720
|
0.03249
|
NM_004960.3(FUS):c.*2486G>A
|
rs73530298
|
0.03248
|
NM_004960.3(FUS):c.*2794G>C
|
rs17839571
|
0.03244
|
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=)
|
rs2242244
|
0.03204
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_031448.6(C19orf12):c.*1020del
|
rs200081218
|
0.03050
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_025000.4(DCAF17):c.555T>A (p.His185Gln)
|
rs3731984
|
0.03047
|
NM_000447.3(PSEN2):c.708T>C (p.Ser236=)
|
rs61730652
|
0.03044
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_025000.4(DCAF17):c.*350G>A
|
rs3795996
|
0.03008
|
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met)
|
rs34348991
|
0.02971
|
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu)
|
rs73894929
|
0.02857
|
NM_000487.6(ARSA):c.*1076A>T
|
rs114833506
|
0.02807
|
NM_000487.6(ARSA):c.*1769A>G
|
rs56788262
|
0.02807
|
NM_014043.4(CHMP2B):c.*1190G>T
|
rs115892684
|
0.02804
|
NM_000487.6(ARSA):c.-136C>G
|
rs6151408
|
0.02754
|
NM_001378452.1(ITPR1):c.*1156A>C
|
rs73099961
|
0.02738
|
NM_000487.6(ARSA):c.*2374C>A
|
rs11704557
|
0.02731
|
NM_000487.6(ARSA):c.*503A>G
|
rs141494339
|
0.02726
|
NM_173500.4(TTBK2):c.*583A>T
|
rs116853892
|
0.02725
|
NM_173500.4(TTBK2):c.*678A>G
|
rs78237254
|
0.02688
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_004960.3(FUS):c.*910C>T
|
rs118018900
|
0.02606
|
NM_025219.3(DNAJC5):c.*4007G>C
|
rs77777268
|
0.02556
|
NM_007375.4(TARDBP):c.*208G>A
|
rs148414479
|
0.02507
|
NM_000484.4(APP):c.1614T>C (p.Tyr538=)
|
rs45537238
|
0.02492
|
NM_001378452.1(ITPR1):c.*643A>T
|
rs41305987
|
0.02460
|
NM_000021.4(PSEN1):c.*3889G>A
|
rs17125952
|
0.02429
|
NM_000487.6(ARSA):c.243C>T (p.Gly81=)
|
rs6151410
|
0.02425
|
NM_001378452.1(ITPR1):c.*47G>C
|
rs74998763
|
0.02401
|
NM_001378452.1(ITPR1):c.*48T>G
|
rs77764633
|
0.02400
|
NM_033305.3(VPS13A):c.*942C>T
|
rs1048743
|
0.02380
|
NM_033305.3(VPS13A):c.2964+13A>G
|
rs115996561
|
0.02367
|
NM_000447.2(PSEN2):c.*536G>A
|
rs16846619
|
0.02363
|
NM_000096.4(CP):c.*1157C>T
|
rs11537809
|
0.02347
|
NM_006796.3(AFG3L2):c.1026+8G>A
|
rs8091858
|
0.02347
|
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=)
|
rs78046172
|
0.02340
|
NM_006749.4(SLC20A2):c.-534A>T
|
rs113755761
|
0.02320
|
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=)
|
rs76751358
|
0.02305
|
NM_033305.3(VPS13A):c.2718A>G (p.Val906=)
|
rs79287753
|
0.02299
|
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys)
|
rs76077278
|
0.02297
|
NM_024411.5(PDYN):c.*369A>G
|
rs73894108
|
0.02261
|
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)
|
rs35079513
|
0.02248
|
NM_007375.4(TARDBP):c.*2331A>G
|
rs114897688
|
0.02160
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_004115.4(FGF14):c.*471A>C
|
rs75498912
|
0.02130
|
NM_007126.5(VCP):c.*596C>T
|
rs55745923
|
0.02117
|
NM_025000.4(DCAF17):c.*188T>A
|
rs142315519
|
0.02083
|
NM_024411.5(PDYN):c.*556C>T
|
rs73571349
|
0.02074
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=)
|
rs79914457
|
0.02054
|
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=)
|
rs34491089
|
0.02052
|
NM_001256054.3(C9orf72):c.-164T>C
|
rs41272893
|
0.02049
|
NM_001378452.1(ITPR1):c.*1170C>A
|
rs202059633
|
0.02047
|
NM_000096.4(CP):c.*137C>T
|
rs34228141
|
0.02012
|
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)
|
rs116359869
|
0.01957
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)
|
rs115234947
|
0.01931
|
NM_024411.5(PDYN):c.*138A>G
|
rs111525766
|
0.01924
|
NM_006796.3(AFG3L2):c.*2G>A
|
rs113981080
|
0.01903
|
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala)
|
rs78048112
|
0.01850
|
NM_004115.4(FGF14):c.*1063G>A
|
rs58555898
|
0.01834
|
NM_004960.3(FUS):c.*2393T>A
|
rs541197027
|
0.01834
|
NM_025219.3(DNAJC5):c.*4385A>T
|
rs77335831
|
0.01815
|
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=)
|
rs34255276
|
0.01788
|
NM_025219.3(DNAJC5):c.*4300C>T
|
rs41278224
|
0.01781
|
NM_004960.3(FUS):c.*989C>T
|
rs114772555
|
0.01702
|
NM_025000.4(DCAF17):c.*3829G>A
|
rs59827170
|
0.01646
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_025000.4(DCAF17):c.*2183C>G
|
rs73976170
|
0.01636
|
NM_000021.4(PSEN1):c.1248+8T>C
|
rs362382
|
0.01609
|
NM_000021.4(PSEN1):c.*3637C>T
|
rs114000457
|
0.01606
|
NM_000021.4(PSEN1):c.*3360A>G
|
rs362390
|
0.01605
|
NM_000021.4(PSEN1):c.*3525A>G
|
rs362391
|
0.01605
|
NM_000021.4(PSEN1):c.*1690T>C
|
rs10143618
|
0.01604
|
NM_000021.4(PSEN1):c.*2430T>C
|
rs362388
|
0.01604
|
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His)
|
rs35532855
|
0.01604
|
NM_000033.4(ABCD1):c.*668C>T
|
rs187420166
|
0.01599
|
NM_000021.4(PSEN1):c.*3823G>A
|
rs362394
|
0.01595
|
NM_001257180.2(SLC20A2):c.*380C>T
|
rs72643203
|
0.01547
|
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)
|
rs79577461
|
0.01539
|
NM_000021.4(PSEN1):c.*4147T>G
|
rs362396
|
0.01523
|
NM_025000.4(DCAF17):c.*1005A>G
|
rs73976168
|
0.01517
|
NM_025000.4(DCAF17):c.*3712A>G
|
rs74780004
|
0.01515
|
NM_004960.3(FUS):c.*1420C>T
|
rs73530295
|
0.01500
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_004960.4(FUS):c.1156C>A (p.Arg386=)
|
rs61733965
|
0.01496
|
NM_004960.4(FUS):c.524-5C>T
|
rs73530287
|
0.01495
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=)
|
rs17081163
|
0.01458
|
NM_000447.3(PSEN2):c.-338A>G
|
rs6665033
|
0.01457
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
NM_001909.5(CTSD):c.*300G>A
|
rs113940256
|
0.01455
|
NM_000096.4(CP):c.1099C>T (p.Arg367Cys)
|
rs34624984
|
0.01447
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_000096.4(CP):c.1209-15T>A
|
rs35465173
|
0.01446
|
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=)
|
rs34748547
|
0.01444
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01441
|
NM_002778.4(PSAP):c.*775G>A
|
rs79662404
|
0.01440
|
NM_031448.6(C19orf12):c.*2186C>T
|
rs73548135
|
0.01436
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01433
|
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)
|
rs147979536
|
0.01429
|
NM_000520.6(HEXA):c.*575G>A
|
rs76075374
|
0.01411
|
NM_198994.3(TGM6):c.989+11C>T
|
rs6048684
|
0.01409
|
NM_033305.3(VPS13A):c.*1186A>G
|
rs3177
|
0.01392
|
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=)
|
rs73466058
|
0.01375
|
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn)
|
rs73467962
|
0.01369
|
NM_007126.5(VCP):c.18-5T>C
|
rs114256093
|
0.01353
|
NM_000096.4(CP):c.*768T>C
|
rs35805816
|
0.01348
|
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=)
|
rs73654012
|
0.01345
|
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_033305.3(VPS13A):c.7155G>A (p.Glu2385=)
|
rs73449933
|
0.01319
|
NM_004115.4(FGF14):c.481T>C (p.Leu161=)
|
rs77082831
|
0.01311
|
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=)
|
rs73098087
|
0.01305
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_006610.4(MASP2):c.1617T>C (p.Asn539=)
|
rs72550845
|
0.01301
|
NM_000447.3(PSEN2):c.*487G>C
|
rs7962
|
0.01294
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_000484.4(APP):c.1299+9T>C
|
rs114675472
|
0.01268
|
NM_025219.3(DNAJC5):c.*4117C>T
|
rs11554630
|
0.01268
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
NM_001257180.2(SLC20A2):c.290-13C>A
|
rs114824268
|
0.01256
|
NM_004960.4(FUS):c.-39A>G
|
rs67676356
|
0.01242
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
NM_014043.4(CHMP2B):c.-102C>T
|
rs36098294
|
0.01237
|
NM_033305.3(VPS13A):c.7806+6A>G
|
rs74810255
|
0.01231
|
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_002778.4(PSAP):c.-10A>G
|
rs76455588
|
0.01197
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_173500.4(TTBK2):c.3669C>T (p.His1223=)
|
rs74398902
|
0.01170
|
NM_006946.4(SPTBN2):c.885+5T>C
|
rs114331192
|
0.01156
|
NM_006946.4(SPTBN2):c.234G>A (p.Val78=)
|
rs78309877
|
0.01155
|
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=)
|
rs34275473
|
0.01154
|
NM_002103.5(GYS1):c.*841A>G
|
rs75797604
|
0.01139
|
NM_001378452.1(ITPR1):c.*1185C>A
|
rs867347513
|
0.01135
|
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)
|
rs61741506
|
0.01135
|
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His)
|
rs61750053
|
0.01134
|
NM_003560.4(PLA2G6):c.*589C>G
|
rs11570771
|
0.01112
|
NM_000033.4(ABCD1):c.*123C>T
|
rs186542134
|
0.01092
|
NM_031448.6(C19orf12):c.*1666G>A
|
rs116378078
|
0.01091
|
NM_031448.6(C19orf12):c.*1413G>A
|
rs116160531
|
0.01090
|
NM_031448.6(C19orf12):c.*3571C>T
|
rs74868577
|
0.01087
|
NM_031448.6(C19orf12):c.*579C>T
|
rs116245746
|
0.01082
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_031448.6(C19orf12):c.*3372C>T
|
rs117537955
|
0.01080
|
NM_006946.4(SPTBN2):c.*364C>T
|
rs11828658
|
0.01074
|
NM_031448.6(C19orf12):c.*2691A>G
|
rs113017735
|
0.01071
|
NM_031448.6(C19orf12):c.*3417C>T
|
rs138368723
|
0.01071
|
NM_031448.6(C19orf12):c.*3217T>C
|
rs769521665
|
0.01062
|
NM_031448.6(C19orf12):c.*791G>A
|
rs111648332
|
0.01055
|
NM_031448.6(C19orf12):c.*2526del
|
rs111753946
|
0.01054
|
NM_031448.6(C19orf12):c.*1880T>C
|
rs112656442
|
0.01053
|
NM_031448.6(C19orf12):c.*541G>A
|
rs112752558
|
0.01053
|
NM_031448.6(C19orf12):c.*471G>A
|
rs112388598
|
0.01050
|
NM_031448.6(C19orf12):c.*814G>A
|
rs112965744
|
0.01050
|
NM_031448.6(C19orf12):c.*1592A>G
|
rs113641934
|
0.01049
|
NM_031448.6(C19orf12):c.*47T>C
|
rs111959875
|
0.01048
|
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)
|
rs35789999
|
0.01046
|
NM_001378452.1(ITPR1):c.5353+4C>T
|
rs60849754
|
0.01038
|
NM_024411.5(PDYN):c.*1396C>T
|
rs6106013
|
0.01038
|
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=)
|
rs34252981
|
0.01036
|
NM_014043.4(CHMP2B):c.*231T>C
|
rs17189270
|
0.01035
|
NM_014043.4(CHMP2B):c.-151C>A
|
rs77328592
|
0.01035
|
NM_031448.6(C19orf12):c.*2763A>G
|
rs113735809
|
0.01028
|
NM_025219.3(DNAJC5):c.*895C>G
|
rs1064345
|
0.01026
|
NM_000096.4(CP):c.2286-12T>G
|
rs183671127
|
0.01016
|
NM_025000.4(DCAF17):c.*2348G>A
|
rs112519318
|
0.01011
|
NM_004115.4(FGF14):c.*31G>A
|
rs149661933
|
0.01007
|
NM_002087.4(GRN):c.*280G>A
|
rs116547342
|
0.01005
|
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)
|
rs56307230
|
0.01001
|
NM_000487.6(ARSA):c.624T>C (p.His208=)
|
rs113990230
|
0.01000
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_024411.5(PDYN):c.*1029A>G
|
rs115095625
|
0.00982
|
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=)
|
rs142903301
|
0.00977
|
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=)
|
rs61741217
|
0.00966
|
NM_007126.5(VCP):c.*906A>G
|
rs76360394
|
0.00965
|
NM_031448.6(C19orf12):c.*2956G>T
|
rs113943151
|
0.00963
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196
|
0.00962
|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)
|
rs16999593
|
0.00959
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=)
|
rs34117933
|
0.00956
|
NM_031448.6(C19orf12):c.*3399_*3400insA
|
rs113192583
|
0.00945
|
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)
|
rs41289969
|
0.00944
|
NM_173500.4(TTBK2):c.*1162T>A
|
rs79592696
|
0.00943
|
NM_000484.4(APP):c.*590C>A
|
rs45455403
|
0.00936
|
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=)
|
rs115565179
|
0.00932
|
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)
|
rs145220403
|
0.00924
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_006796.3(AFG3L2):c.*109A>C
|
rs114203162
|
0.00915
|
NM_002103.5(GYS1):c.1926G>A (p.Val642=)
|
rs5451
|
0.00912
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_001378452.1(ITPR1):c.3327+12C>T
|
rs116022052
|
0.00894
|
NM_031448.6(C19orf12):c.*2784C>G
|
rs147421675
|
0.00894
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_002739.5(PRKCG):c.*199C>T
|
rs114091656
|
0.00888
|
NM_001042432.2(CLN3):c.*155A>C
|
rs113112766
|
0.00886
|
NM_001386393.1(PANK2):c.*218A>G
|
rs71647860
|
0.00876
|
NM_000096.4(CP):c.*509A>C
|
rs13098532
|
0.00867
|
NM_000096.4(CP):c.*879A>C
|
rs144029944
|
0.00863
|
NM_004960.3(FUS):c.*626G>A
|
rs115626460
|
0.00863
|
NM_000484.4(APP):c.2133C>A (p.Val711=)
|
rs116650065
|
0.00856
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
NM_006749.4(SLC20A2):c.-592C>T
|
rs145711927
|
0.00840
|
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)
|
rs114788199
|
0.00819
|
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)
|
rs112812685
|
0.00817
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00817
|
NM_001378452.1(ITPR1):c.1251+10G>A
|
rs75936691
|
0.00811
|
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)
|
rs71647829
|
0.00808
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_000784.3(CYP27A1):c.-370T>C
|
rs182545847
|
0.00800
|
NM_001378452.1(ITPR1):c.3327+4G>A
|
rs2306878
|
0.00785
|
NM_002778.3(PSAP):c.-65C>T
|
rs145948209
|
0.00785
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=)
|
rs34616316
|
0.00781
|
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly)
|
rs73937614
|
0.00778
|
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)
|
rs114389264
|
0.00778
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054
|
0.00771
|
NM_024411.5(PDYN):c.*356T>C
|
rs114429882
|
0.00768
|
NM_000021.4(PSEN1):c.*1381G>A
|
rs362387
|
0.00765
|
NM_033305.3(VPS13A):c.228T>C (p.Thr76=)
|
rs115443572
|
0.00762
|
NM_001378452.1(ITPR1):c.2204+13C>T
|
rs141519515
|
0.00759
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_000484.3(APP):c.-156G>C
|
rs45476095
|
0.00751
|
NM_000021.4(PSEN1):c.*3566A>G
|
rs74061007
|
0.00746
|
NM_024411.5(PDYN):c.575A>T (p.Glu192Val)
|
rs45469293
|
0.00742
|
NM_000021.4(PSEN1):c.*3358A>G
|
rs74061006
|
0.00741
|
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln)
|
rs75122556
|
0.00731
|
NM_198994.3(TGM6):c.42G>A (p.Ser14=)
|
rs149394698
|
0.00719
|
NM_000487.6(ARSA):c.*992G>A
|
rs376910590
|
0.00717
|
NM_004115.4(FGF14):c.*744C>A
|
rs79379700
|
0.00714
|
NM_006946.4(SPTBN2):c.4985+11C>T
|
rs11227572
|
0.00707
|
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr)
|
rs79724097
|
0.00706
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)
|
rs138683183
|
0.00691
|
NM_014043.4(CHMP2B):c.*1588C>T
|
rs11426
|
0.00691
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
NM_007375.4(TARDBP):c.675A>G (p.Pro225=)
|
rs61741294
|
0.00675
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00674
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_000484.4(APP):c.*967G>A
|
rs45541739
|
0.00669
|
NM_007126.5(VCP):c.1082-9G>T
|
rs12349922
|
0.00667
|
NM_002103.5(GYS1):c.*908G>A
|
rs117997270
|
0.00664
|
NM_033305.3(VPS13A):c.8472-12C>T
|
rs115077471
|
0.00651
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_024411.5(PDYN):c.*1443G>A
|
rs148395893
|
0.00643
|
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=)
|
rs146280301
|
0.00643
|
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=)
|
rs139753431
|
0.00641
|
NM_000484.3(APP):c.*1125T>G
|
rs45599935
|
0.00640
|
NM_033305.3(VPS13A):c.3813-15T>C
|
rs145835861
|
0.00639
|
NM_002087.3(GRN):c.-72G>T
|
rs76783532
|
0.00635
|
NM_198994.3(TGM6):c.1656C>T (p.Ala552=)
|
rs75601099
|
0.00634
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
NM_007126.5(VCP):c.1092C>T (p.Asp364=)
|
rs61752947
|
0.00619
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_006796.3(AFG3L2):c.-71C>T
|
rs571340907
|
0.00605
|
NM_000096.4(CP):c.669G>C (p.Val223=)
|
rs35438054
|
0.00599
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_017882.3(CLN6):c.*667G>A
|
rs111879561
|
0.00596
|
NM_001257180.2(SLC20A2):c.*113A>T
|
rs115989387
|
0.00586
|
NM_001257180.2(SLC20A2):c.*112G>T
|
rs114729286
|
0.00585
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_025219.3(DNAJC5):c.*3629A>G
|
rs73136585
|
0.00578
|
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=)
|
rs35047189
|
0.00575
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_198994.3(TGM6):c.1657G>A (p.Val553Met)
|
rs74338361
|
0.00574
|
NM_017882.3(CLN6):c.*646C>G
|
rs144976448
|
0.00573
|
NM_002778.4(PSAP):c.*122C>G
|
rs113284884
|
0.00572
|
NM_173500.4(TTBK2):c.*966C>T
|
rs145576687
|
0.00571
|
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_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)
|
rs138819654
|
0.00560
|
NM_000096.4(CP):c.*474T>C
|
rs34936395
|
0.00559
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=)
|
rs114699935
|
0.00559
|
NM_004115.4(FGF14):c.*554G>A
|
rs141793298
|
0.00557
|
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=)
|
rs75443147
|
0.00552
|
NM_031448.6(C19orf12):c.-11+181T>C
|
rs186970109
|
0.00552
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)
|
rs2734715
|
0.00549
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_001130823.3(DNMT1):c.2382-4C>T
|
rs74505694
|
0.00548
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_017882.3(CLN6):c.*393G>A
|
rs114833125
|
0.00546
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00544
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)
|
rs75248974
|
0.00528
|
NM_006946.4(SPTBN2):c.6723-14C>T
|
rs186232313
|
0.00525
|
NM_000447.3(PSEN2):c.*405G>T
|
rs116807339
|
0.00524
|
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)
|
rs115652716
|
0.00524
|
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)
|
rs63750412
|
0.00523
|
NM_018325.5(C9orf72):c.*1469T>A
|
rs141012074
|
0.00519
|
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_000033.4(ABCD1):c.901-10C>T
|
rs2269365
|
0.00512
|
NM_022089.4(ATP13A2):c.*140C>G
|
rs557545457
|
0.00509
|
NM_004960.3(FUS):c.*1148A>T
|
rs140326191
|
0.00506
|
NM_000487.6(ARSA):c.-330C>T
|
rs558023516
|
0.00504
|
NM_004960.3(FUS):c.*2443A>G
|
rs189787862
|
0.00503
|
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)
|
rs111553899
|
0.00499
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001378452.1(ITPR1):c.6510+7T>C
|
rs115430385
|
0.00496
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_006796.3(AFG3L2):c.-137G>C
|
rs191000529
|
0.00494
|
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_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala)
|
rs61734958
|
0.00485
|
NM_000096.4(CP):c.1275T>C (p.Tyr425=)
|
rs34237139
|
0.00484
|
NM_002778.4(PSAP):c.204C>T (p.Asp68=)
|
rs143981174
|
0.00484
|
NM_007126.5(VCP):c.*1001C>T
|
rs192556285
|
0.00482
|
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)
|
rs114241603
|
0.00477
|
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu)
|
rs76000738
|
0.00477
|
NM_000484.4(APP):c.1840A>G (p.Ser614Gly)
|
rs112263157
|
0.00475
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_198994.3(TGM6):c.-2A>G
|
rs80329336
|
0.00475
|
NM_033305.3(VPS13A):c.*1458T>G
|
rs139050715
|
0.00474
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_000096.4(CP):c.1349-13T>C
|
rs17847017
|
0.00469
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_000096.4(CP):c.1348+9T>C
|
rs35272481
|
0.00465
|
NM_000447.2(PSEN2):c.-400C>T
|
rs186308126
|
0.00465
|
NM_031448.6(C19orf12):c.*1826G>T
|
rs192407663
|
0.00461
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)
|
rs116401889
|
0.00456
|
NM_000391.4(TPP1):c.*986C>G
|
rs188148381
|
0.00455
|
NM_006610.4(MASP2):c.*184C>T
|
rs115750484
|
0.00452
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_025219.3(DNAJC5):c.*1364C>T
|
rs61735744
|
0.00449
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_173500.4(TTBK2):c.980+8C>A
|
rs143836514
|
0.00447
|
NM_000021.4(PSEN1):c.*1791A>T
|
rs177412
|
0.00446
|
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436
|
0.00446
|
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858
|
0.00446
|
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr)
|
rs79915936
|
0.00444
|
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys)
|
rs115062978
|
0.00441
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_198994.3(TGM6):c.12C>G (p.Ile4Met)
|
rs139796716
|
0.00438
|
NM_000096.4(CP):c.2525A>G (p.Glu842Gly)
|
rs149858116
|
0.00437
|
NM_000447.3(PSEN2):c.861C>T (p.Pro287=)
|
rs75733498
|
0.00436
|
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln)
|
rs61757110
|
0.00436
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_025000.4(DCAF17):c.*1521A>G
|
rs77176791
|
0.00434
|
NM_173500.4(TTBK2):c.*1311G>A
|
rs148272721
|
0.00429
|
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)
|
rs148656796
|
0.00425
|
NM_031448.6(C19orf12):c.*84C>T
|
rs117867574
|
0.00423
|
NM_022089.4(ATP13A2):c.*120A>T
|
rs41273151
|
0.00422
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
NM_031448.6(C19orf12):c.*1170C>A
|
rs75930446
|
0.00420
|
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)
|
rs34124953
|
0.00417
|
NM_025000.4(DCAF17):c.*677C>A
|
rs115798465
|
0.00417
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_000096.4(CP):c.*259C>T
|
rs192321084
|
0.00414
|
NM_002103.5(GYS1):c.*450G>A
|
rs3745693
|
0.00414
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
NM_000447.3(PSEN2):c.132T>A (p.Thr44=)
|
rs143227762
|
0.00413
|
NM_198994.3(TGM6):c.1235G>A (p.Arg412His)
|
rs142679146
|
0.00410
|
NM_022089.4(ATP13A2):c.*231G>A
|
rs76298930
|
0.00409
|
NM_031448.6(C19orf12):c.*3304T>C
|
rs547761506
|
0.00405
|
NM_001257180.2(SLC20A2):c.*263A>C
|
rs145543019
|
0.00402
|
NM_025000.4(DCAF17):c.*1841G>T
|
rs114519296
|
0.00399
|
NM_000521.4(HEXB):c.*40A>C
|
rs184908092
|
0.00397
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_025219.3(DNAJC5):c.*909G>T
|
rs114038171
|
0.00395
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
NM_000391.4(TPP1):c.*1540T>C
|
rs374146578
|
0.00387
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)
|
rs61750051
|
0.00377
|
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu)
|
rs61729226
|
0.00370
|
NM_017882.3(CLN6):c.*75G>C
|
rs57058289
|
0.00367
|
NM_004960.3(FUS):c.*214C>T
|
rs140875749
|
0.00361
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_000033.4(ABCD1):c.696G>T (p.Ala232=)
|
rs147595334
|
0.00357
|
NM_000784.3(CYP27A1):c.-205C>A
|
rs187723732
|
0.00357
|
NM_004115.4(FGF14):c.*1259C>T
|
rs535930764
|
0.00357
|
NM_002087.4(GRN):c.545C>T (p.Thr182Met)
|
rs63750479
|
0.00356
|
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=)
|
rs74909073
|
0.00352
|
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)
|
rs141063383
|
0.00352
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly)
|
rs141930579
|
0.00348
|
NM_025219.3(DNAJC5):c.*1235C>T
|
rs149675982
|
0.00347
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_025219.3(DNAJC5):c.*3995A>G
|
rs115323539
|
0.00344
|
NM_033305.3(VPS13A):c.2667+12G>A
|
rs199995355
|
0.00342
|
NM_017882.3(CLN6):c.*934G>T
|
rs114551417
|
0.00341
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_000391.4(TPP1):c.1396G>A (p.Val466Met)
|
rs78970155
|
0.00339
|
NM_000484.4(APP):c.*914G>A
|
rs736479
|
0.00338
|
NM_033305.3(VPS13A):c.101-7T>C
|
rs190684534
|
0.00338
|
NM_002087.4(GRN):c.546G>A (p.Thr182=)
|
rs138473783
|
0.00335
|
NM_002739.5(PRKCG):c.*427T>C
|
rs886054615
|
0.00334
|
NM_018325.5(C9orf72):c.528T>C (p.Leu176=)
|
rs34608611
|
0.00334
|
NM_025219.3(DNAJC5):c.*1342G>A
|
rs41278218
|
0.00334
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_001042465.2(PSAP):c.-118G>A
|
rs28365838
|
0.00331
|
NM_018325.5(C9orf72):c.*837G>A
|
rs80172172
|
0.00329
|
NM_002087.4(GRN):c.-38T>C
|
rs530686556
|
0.00325
|
NM_004960.3(FUS):c.*1992A>C
|
rs146490489
|
0.00325
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
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_007126.5(VCP):c.1360-14C>G
|
rs144304208
|
0.00311
|
NM_025000.4(DCAF17):c.-204C>T
|
rs147113116
|
0.00309
|
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=)
|
rs139528715
|
0.00306
|
NM_000021.4(PSEN1):c.*2580C>T
|
rs117394753
|
0.00305
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_031448.6(C19orf12):c.*2117G>A
|
rs184117483
|
0.00302
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)
|
rs61730366
|
0.00292
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_025219.3(DNAJC5):c.*373G>A
|
rs188304560
|
0.00290
|
NM_000487.6(ARSA):c.*2259G>A
|
rs187444411
|
0.00289
|
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)
|
rs115902470
|
0.00289
|
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)
|
rs35946460
|
0.00289
|
NM_000096.4(CP):c.2878+12T>G
|
rs35848147
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_006946.4(SPTBN2):c.*546T>C
|
rs539068045
|
0.00285
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala)
|
rs56017612
|
0.00284
|
NM_000021.4(PSEN1):c.*4030A>G
|
rs186752250
|
0.00283
|
NM_000487.6(ARSA):c.*191C>G
|
rs537362532
|
0.00283
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_000520.6(HEXA):c.*76G>A
|
rs558918292
|
0.00277
|
NM_006946.4(SPTBN2):c.5950-8G>A
|
rs201759431
|
0.00277
|
NM_025000.4(DCAF17):c.*530A>G
|
rs115676571
|
0.00277
|
NM_000021.4(PSEN1):c.*3941C>A
|
rs144455736
|
0.00276
|
NM_001130823.2(DNMT1):c.*323C>G
|
rs146694575
|
0.00273
|
NM_004960.3(FUS):c.*1998T>C
|
rs182437252
|
0.00272
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)
|
rs146515654
|
0.00267
|
NM_002778.4(PSAP):c.189C>T (p.Cys63=)
|
rs111369573
|
0.00266
|
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)
|
rs115993270
|
0.00262
|
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)
|
rs73023451
|
0.00262
|
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)
|
rs201251634
|
0.00261
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_001909.5(CTSD):c.*509C>T
|
rs780680894
|
0.00255
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=)
|
rs149271718
|
0.00254
|
NM_004960.3(FUS):c.*2988C>T
|
rs73530301
|
0.00254
|
NM_007126.5(VCP):c.-267C>T
|
rs184152880
|
0.00252
|
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)
|
rs142647321
|
0.00251
|
NM_004115.4(FGF14):c.*1118G>A
|
rs147404825
|
0.00250
|
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=)
|
rs61750052
|
0.00249
|
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)
|
rs147755372
|
0.00249
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_025219.3(DNAJC5):c.*3204C>T
|
rs140377993
|
0.00248
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=)
|
rs16999358
|
0.00243
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
NM_014043.4(CHMP2B):c.*1255G>T
|
rs144167614
|
0.00241
|
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu)
|
rs75616428
|
0.00240
|
NM_198994.3(TGM6):c.*87C>A
|
rs45544131
|
0.00240
|
NM_025219.3(DNAJC5):c.*1820C>A
|
rs182604967
|
0.00237
|
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
NM_000096.4(CP):c.322C>T (p.His108Tyr)
|
rs34386552
|
0.00235
|
NM_001257180.2(SLC20A2):c.*120C>G
|
rs569568894
|
0.00235
|
NM_000484.4(APP):c.*372A>G
|
rs187940037
|
0.00231
|
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)
|
rs115985012
|
0.00228
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_000447.3(PSEN2):c.*120G>A
|
rs143059995
|
0.00226
|
NM_001378452.1(ITPR1):c.*979A>T
|
rs147782346
|
0.00226
|
NM_000021.4(PSEN1):c.*672G>A
|
rs192897390
|
0.00225
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_000021.4(PSEN1):c.*3495A>G
|
rs141799841
|
0.00220
|
NM_022089.4(ATP13A2):c.*130C>T
|
rs189334432
|
0.00217
|
NM_000391.4(TPP1):c.*1250T>A
|
rs193029892
|
0.00215
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_000096.4(CP):c.993T>C (p.Pro331=)
|
rs17847025
|
0.00213
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=)
|
rs114636687
|
0.00212
|
NM_006946.4(SPTBN2):c.1221C>T (p.His407=)
|
rs143596433
|
0.00212
|
NM_001909.5(CTSD):c.951C>T (p.Ala317=)
|
rs78306946
|
0.00211
|
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)
|
rs777868371
|
0.00211
|
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln)
|
rs138816265
|
0.00210
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_025219.3(DNAJC5):c.*1183G>T
|
rs562364964
|
0.00208
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_000021.4(PSEN1):c.*449T>C
|
rs112911413
|
0.00206
|
NM_018325.5(C9orf72):c.*1214T>C
|
rs191690136
|
0.00205
|
NM_006946.4(SPTBN2):c.6896+11G>A
|
rs141969559
|
0.00203
|
NM_018325.5(C9orf72):c.*1058G>T
|
rs41272887
|
0.00203
|
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)
|
rs28565126
|
0.00201
|
NM_004115.4(FGF14):c.*414T>C
|
rs557390242
|
0.00200
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_000487.6(ARSA):c.-224C>G
|
rs546035074
|
0.00197
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_004960.3(FUS):c.*687G>A
|
rs549602004
|
0.00193
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)
|
rs79720149
|
0.00191
|
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)
|
rs141304687
|
0.00191
|
NM_002739.5(PRKCG):c.*670T>C
|
rs186000310
|
0.00190
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=)
|
rs2242243
|
0.00188
|
NM_000021.4(PSEN1):c.*2108G>A
|
rs368329004
|
0.00187
|
NM_000096.4(CP):c.2793A>G (p.Leu931=)
|
rs34987997
|
0.00186
|
NM_031448.6(C19orf12):c.*500G>A
|
rs113415246
|
0.00186
|
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)
|
rs138328594
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_000146.4(FTL):c.522C>T (p.His174=)
|
rs73046709
|
0.00184
|
NM_025000.4(DCAF17):c.127-15C>A
|
rs146556466
|
0.00184
|
NM_031448.6(C19orf12):c.*2778C>T
|
rs80024917
|
0.00183
|
NM_033305.3(VPS13A):c.9078-7C>T
|
rs186819389
|
0.00183
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_006796.3(AFG3L2):c.1664-9T>C
|
rs200476229
|
0.00182
|
NM_022124.6(CDH23):c.*68G>C
|
rs527311705
|
0.00182
|
NM_004960.4(FUS):c.675C>T (p.Gly225=)
|
rs140003720
|
0.00179
|
NM_153638.4(PANK2):c.-11G>A
|
rs71647826
|
0.00179
|
NM_001378452.1(ITPR1):c.*1196T>C
|
rs565045968
|
0.00178
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_025000.4(DCAF17):c.-111G>T
|
rs80336595
|
0.00176
|
NM_000391.4(TPP1):c.*1570C>T
|
rs369352772
|
0.00175
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_025000.4(DCAF17):c.*2303G>A
|
rs186143382
|
0.00175
|
NM_000096.4(CP):c.*1081T>A
|
rs188137938
|
0.00174
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=)
|
rs144939155
|
0.00173
|
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)
|
rs200405805
|
0.00172
|
NM_007126.5(VCP):c.*1040T>C
|
rs188935092
|
0.00171
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=)
|
rs35463342
|
0.00168
|
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=)
|
rs35370566
|
0.00168
|
NM_025000.4(DCAF17):c.*3022A>G
|
rs75833923
|
0.00168
|
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)
|
rs146241431
|
0.00167
|
NM_007375.4(TARDBP):c.*1622A>T
|
rs551513393
|
0.00167
|
NM_022124.6(CDH23):c.*478G>C
|
rs564392413
|
0.00166
|
NM_002103.5(GYS1):c.*301G>A
|
rs147489255
|
0.00165
|
NM_198994.3(TGM6):c.2052G>A (p.Val684=)
|
rs149369357
|
0.00165
|
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)
|
rs71647837
|
0.00164
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
NM_022089.4(ATP13A2):c.3406-14C>T
|
rs139088170
|
0.00163
|
NM_024411.5(PDYN):c.*1238A>T
|
rs187098720
|
0.00163
|
NM_031448.6(C19orf12):c.*2893G>A
|
rs571030466
|
0.00163
|
NM_000096.4(CP):c.*40C>T
|
rs112764171
|
0.00162
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_031448.6(C19orf12):c.*3400T>A
|
rs182700680
|
0.00162
|
NM_173500.4(TTBK2):c.*1463G>A
|
rs571544379
|
0.00160
|
NM_001909.5(CTSD):c.*210C>G
|
rs528911846
|
0.00156
|
NM_001130823.3(DNMT1):c.2117+13G>A
|
rs112660071
|
0.00153
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_000096.4(CP):c.347C>A (p.Pro116His)
|
rs73866999
|
0.00150
|
NM_033305.3(VPS13A):c.-148C>T
|
rs555695029
|
0.00150
|
NM_004115.4(FGF14):c.636T>C (p.His212=)
|
rs41281644
|
0.00149
|
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)
|
rs140719871
|
0.00149
|
NM_001378452.1(ITPR1):c.2007-3T>C
|
rs200335594
|
0.00148
|
NM_025219.3(DNAJC5):c.*158A>T
|
rs41278210
|
0.00148
|
NM_018325.5(C9orf72):c.288A>G (p.Ser96=)
|
rs147752518
|
0.00146
|
NM_007375.4(TARDBP):c.*1008T>G
|
rs141412238
|
0.00145
|
NM_000447.3(PSEN2):c.-82T>C
|
rs200607063
|
0.00144
|
NM_001386393.1(PANK2):c.*382C>T
|
rs71647861
|
0.00144
|
NM_000484.4(APP):c.1795G>A (p.Glu599Lys)
|
rs140304729
|
0.00143
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=)
|
rs3731980
|
0.00143
|
NM_033305.3(VPS13A):c.2170+13T>C
|
rs183087425
|
0.00143
|
NM_014043.4(CHMP2B):c.*899T>A
|
rs186472338
|
0.00142
|
NM_173500.4(TTBK2):c.*581A>T
|
rs575564250
|
0.00142
|
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_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)
|
rs55833708
|
0.00138
|
NM_000021.4(PSEN1):c.*3508G>A
|
rs150550252
|
0.00137
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)
|
rs144199562
|
0.00136
|
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser)
|
rs138807504
|
0.00136
|
NM_025219.3(DNAJC5):c.*195G>A
|
rs180676568
|
0.00135
|
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys)
|
rs144338465
|
0.00135
|
NM_006946.4(SPTBN2):c.1654-13G>A
|
rs200980512
|
0.00134
|
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn)
|
rs74622901
|
0.00134
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_006796.3(AFG3L2):c.-32C>T
|
rs556432963
|
0.00133
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_001130823.3(DNMT1):c.*165T>G
|
rs192952800
|
0.00132
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510
|
0.00132
|
NM_006946.4(SPTBN2):c.1807+13C>T
|
rs151122248
|
0.00132
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
NM_024411.5(PDYN):c.*1071G>A
|
rs752953257
|
0.00129
|
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_000021.4(PSEN1):c.*4113G>A
|
rs190718487
|
0.00125
|
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657
|
0.00125
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165
|
0.00125
|
NM_006946.4(SPTBN2):c.*71G>A
|
rs572522164
|
0.00125
|
NM_025219.3(DNAJC5):c.*1433G>A
|
rs41278220
|
0.00125
|
NM_006796.3(AFG3L2):c.114+12C>T
|
rs758470020
|
0.00124
|
NM_014043.4(CHMP2B):c.*1610C>T
|
rs191312397
|
0.00124
|
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val)
|
rs180791005
|
0.00124
|
NM_001130823.3(DNMT1):c.768+12T>A
|
rs189898346
|
0.00123
|
NM_004960.3(FUS):c.*2005G>T
|
rs140979886
|
0.00123
|
NM_003560.4(PLA2G6):c.-20C>A
|
rs191263821
|
0.00121
|
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=)
|
rs367643585
|
0.00120
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_018325.5(C9orf72):c.*914A>G
|
rs561651779
|
0.00118
|
NM_001909.5(CTSD):c.*694G>A
|
rs751538234
|
0.00116
|
NM_022089.4(ATP13A2):c.-170C>T
|
rs150122517
|
0.00116
|
NM_000484.4(APP):c.2217C>T (p.Asp739=)
|
rs145277462
|
0.00115
|
NM_000487.6(ARSA):c.*332C>T
|
rs780413907
|
0.00115
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_025219.3(DNAJC5):c.*1220G>A
|
rs73136582
|
0.00115
|
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)
|
rs71647827
|
0.00115
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_025000.4(DCAF17):c.*1034G>A
|
rs3731979
|
0.00114
|
NM_025000.4(DCAF17):c.*378T>C
|
rs3795997
|
0.00114
|
NM_025000.4(DCAF17):c.*2971A>G
|
rs576169953
|
0.00113
|
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=)
|
rs74983687
|
0.00113
|
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
NM_025219.3(DNAJC5):c.*1556A>G
|
rs58526294
|
0.00108
|
NM_001130823.3(DNMT1):c.493+8C>T
|
rs138998574
|
0.00107
|
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
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_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_001378452.1(ITPR1):c.*1198C>T
|
rs367636150
|
0.00102
|
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)
|
rs3749383
|
0.00102
|
NM_006796.3(AFG3L2):c.1319-7C>T
|
rs182327153
|
0.00102
|
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)
|
rs199968321
|
0.00102
|
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_000484.3(APP):c.-200G>A
|
rs200621906
|
0.00100
|
NM_000484.4(APP):c.*624A>G
|
rs199680232
|
0.00100
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)
|
rs143083152
|
0.00100
|
NM_000096.3(CP):c.-183T>C
|
rs185578646
|
0.00099
|
NM_000487.6(ARSA):c.*729C>T
|
rs191335867
|
0.00099
|
NM_002739.5(PRKCG):c.642G>A (p.Thr214=)
|
rs77550964
|
0.00099
|
NM_001130823.3(DNMT1):c.*287T>C
|
rs189422259
|
0.00098
|
NM_002103.5(GYS1):c.*421A>G
|
rs181566066
|
0.00098
|
NM_006946.4(SPTBN2):c.4985+12G>A
|
rs199692345
|
0.00098
|
NM_033305.3(VPS13A):c.101-14T>G
|
rs202024224
|
0.00098
|
NM_001042432.1(CLN3):c.-264C>G
|
rs187163584
|
0.00096
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_002087.4(GRN):c.*246A>G
|
rs552375884
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=)
|
rs143021112
|
0.00096
|
NM_173500.3(TTBK2):c.-413G>C
|
rs528520159
|
0.00096
|
NM_003560.4(PLA2G6):c.*301G>A
|
rs11570769
|
0.00095
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_033305.3(VPS13A):c.*279A>T
|
rs191865643
|
0.00095
|
NM_000447.3(PSEN2):c.366G>A (p.Thr122=)
|
rs148996705
|
0.00094
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00094
|
NM_000484.4(APP):c.-44C>T
|
rs200289921
|
0.00093
|
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=)
|
rs145346590
|
0.00093
|
NM_173500.4(TTBK2):c.*1153G>A
|
rs781080005
|
0.00093
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
NM_018325.5(C9orf72):c.*174C>T
|
rs146530591
|
0.00092
|
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_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)
|
rs200705345
|
0.00090
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_006796.3(AFG3L2):c.400-14C>G
|
rs192002414
|
0.00088
|
NM_007126.5(VCP):c.*12C>T
|
rs62544156
|
0.00088
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_006796.3(AFG3L2):c.-92T>C
|
rs574201536
|
0.00087
|
NM_000447.3(PSEN2):c.*306G>A
|
rs145129440
|
0.00086
|
NM_002087.4(GRN):c.228C>T (p.Thr76=)
|
rs144736470
|
0.00086
|
NM_025000.4(DCAF17):c.*1370C>T
|
rs565065854
|
0.00085
|
NM_033305.3(VPS13A):c.*933A>G
|
rs561135773
|
0.00085
|
NM_018325.5(C9orf72):c.*1024A>G
|
rs563194682
|
0.00084
|
NM_031448.6(C19orf12):c.*1226C>T
|
rs775550079
|
0.00084
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_002103.5(GYS1):c.*868A>G
|
rs571576339
|
0.00083
|
NM_000484.4(APP):c.2212-10T>C
|
rs45513597
|
0.00081
|
NM_004960.4(FUS):c.-47G>A
|
rs72550864
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_024411.4(PDYN):c.-382C>T
|
rs188187030
|
0.00081
|
NM_000021.4(PSEN1):c.*166T>A
|
rs192302611
|
0.00080
|
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)
|
rs193922096
|
0.00080
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala)
|
rs144094215
|
0.00080
|
NM_014043.4(CHMP2B):c.*864G>A
|
rs181777395
|
0.00079
|
NM_025219.3(DNAJC5):c.*4006C>T
|
rs138866062
|
0.00079
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=)
|
rs113368815
|
0.00078
|
NM_025219.3(DNAJC5):c.*736G>A
|
rs552739074
|
0.00078
|
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=)
|
rs140402012
|
0.00077
|
NM_025000.4(DCAF17):c.*2976A>G
|
rs78561668
|
0.00077
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
NM_002778.4(PSAP):c.714C>G (p.Ala238=)
|
rs141199649
|
0.00076
|
NM_004960.3(FUS):c.*335G>T
|
rs192206514
|
0.00076
|
NM_025219.3(DNAJC5):c.*4065G>A
|
rs373099874
|
0.00076
|
NM_004960.4(FUS):c.1464C>T (p.Gly488=)
|
rs150529460
|
0.00075
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_000021.4(PSEN1):c.*328C>T
|
rs200067194
|
0.00074
|
NM_000487.6(ARSA):c.*1213T>G
|
rs886057649
|
0.00074
|
NM_025219.3(DNAJC5):c.107+12A>G
|
rs372843187
|
0.00074
|
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
|
rs63750197
|
0.00073
|
NM_006796.3(AFG3L2):c.*379T>A
|
rs150224434
|
0.00073
|
NM_007375.4(TARDBP):c.*343G>A
|
rs555353123
|
0.00073
|
NM_025219.3(DNAJC5):c.*2039C>T
|
rs79245733
|
0.00073
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_004960.3(FUS):c.*721A>G
|
rs558776704
|
0.00071
|
NM_025219.3(DNAJC5):c.*3413A>G
|
rs150408300
|
0.00071
|
NM_003560.4(PLA2G6):c.*541C>T
|
rs45473603
|
0.00070
|
NM_173500.4(TTBK2):c.-321C>A
|
rs760435890
|
0.00070
|
NM_000484.4(APP):c.1305C>T (p.Phe435=)
|
rs148180403
|
0.00069
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
NM_000033.4(ABCD1):c.-202C>G
|
rs781978041
|
0.00067
|
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)
|
rs45484792
|
0.00067
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_004115.4(FGF14):c.*974G>A
|
rs886049934
|
0.00067
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
|
rs150999369
|
0.00066
|
NM_001257180.2(SLC20A2):c.*926C>T
|
rs575143642
|
0.00066
|
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=)
|
rs61757106
|
0.00066
|
NM_003560.2(PLA2G6):c.*672G>A
|
rs572000246
|
0.00066
|
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)
|
rs144141585
|
0.00066
|
NM_001042432.2(CLN3):c.*55C>A
|
rs199979207
|
0.00065
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_025000.4(DCAF17):c.792T>C (p.Thr264=)
|
rs199742600
|
0.00064
|
NM_000033.4(ABCD1):c.*985C>G
|
rs782309410
|
0.00063
|
NM_001257180.2(SLC20A2):c.290-5T>C
|
rs371924916
|
0.00063
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313
|
0.00063
|
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=)
|
rs199960483
|
0.00063
|
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=)
|
rs200426774
|
0.00063
|
NM_000391.4(TPP1):c.*829C>T
|
rs533616443
|
0.00062
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_004115.4(FGF14):c.*1220_*1223dup
|
rs546246953
|
0.00062
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_000487.6(ARSA):c.-131G>A
|
rs551316995
|
0.00061
|
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)
|
rs150607879
|
0.00061
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_173500.4(TTBK2):c.*580T>A
|
rs544516599
|
0.00061
|
NM_000487.6(ARSA):c.*103C>T
|
rs146160737
|
0.00060
|
NM_017882.3(CLN6):c.*312C>T
|
rs747144655
|
0.00060
|
NM_025219.3(DNAJC5):c.*3480G>C
|
rs577249426
|
0.00060
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027
|
0.00059
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=)
|
rs56211557
|
0.00059
|
NM_025000.4(DCAF17):c.*1692G>C
|
rs903874983
|
0.00059
|
NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr)
|
rs149650431
|
0.00059
|
NM_004960.3(FUS):c.*561C>T
|
rs192705444
|
0.00058
|
NM_173500.4(TTBK2):c.*744G>A
|
rs769283772
|
0.00058
|
NM_001257180.2(SLC20A2):c.-89A>G
|
rs185590768
|
0.00057
|
NM_001386393.1(PANK2):c.298+15G>C
|
rs566953264
|
0.00057
|
NM_002087.3(GRN):c.-45C>G
|
rs563336550
|
0.00057
|
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg)
|
rs78488864
|
0.00057
|
NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys)
|
rs201346228
|
0.00057
|
NM_001256047.1(C19orf12):c.*3833T>A
|
rs112945856
|
0.00056
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857
|
0.00056
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_004960.4(FUS):c.198T>C (p.Tyr66=)
|
rs144853447
|
0.00056
|
NM_004960.4(FUS):c.404G>A (p.Ser135Asn)
|
rs61732970
|
0.00056
|
NM_198994.3(TGM6):c.1011G>A (p.Glu337=)
|
rs142832802
|
0.00056
|
NM_000487.6(ARSA):c.*1969C>A
|
rs556167510
|
0.00055
|
NM_001378452.1(ITPR1):c.*121G>C
|
rs146903558
|
0.00055
|
NM_001386393.1(PANK2):c.*541C>T
|
rs886056655
|
0.00055
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
NM_014043.4(CHMP2B):c.*1408A>G
|
rs183429826
|
0.00055
|
NM_000520.5(HEXA):c.-136G>A
|
rs561320483
|
0.00054
|
NM_006946.4(SPTBN2):c.-22-10C>A
|
rs200435327
|
0.00054
|
NM_018325.5(C9orf72):c.*602A>G
|
rs567258799
|
0.00054
|
NM_022089.4(ATP13A2):c.106-14C>T
|
rs199706883
|
0.00054
|
NM_000021.4(PSEN1):c.*71A>G
|
rs201452973
|
0.00053
|
NM_000021.4(PSEN1):c.-191C>T
|
rs199680675
|
0.00053
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_004115.4(FGF14):c.*553C>T
|
rs150580343
|
0.00053
|
NM_007375.3(TARDBP):c.-110C>T
|
rs577981181
|
0.00053
|
NM_007375.4(TARDBP):c.*1081C>T
|
rs184303021
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
|
rs146798796
|
0.00051
|
NM_000484.3(APP):c.-199G>A
|
rs761755102
|
0.00051
|
NM_000487.6(ARSA):c.-159C>T
|
rs6151407
|
0.00051
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)
|
rs144942998
|
0.00051
|
NM_006749.5(SLC20A2):c.-389G>A
|
rs574357175
|
0.00051
|
NM_007375.4(TARDBP):c.*1623T>A
|
rs566657331
|
0.00051
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_024411.5(PDYN):c.*103C>T
|
rs555671052
|
0.00051
|
NM_025000.4(DCAF17):c.*1965A>G
|
rs569108215
|
0.00051
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_000484.4(APP):c.1810G>A (p.Val604Met)
|
rs199887707
|
0.00050
|
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_000021.4(PSEN1):c.*230G>T
|
rs200692223
|
0.00049
|
NM_000021.4(PSEN1):c.*807G>A
|
rs202083888
|
0.00049
|
NM_000096.4(CP):c.2554+8C>T
|
rs749646388
|
0.00049
|
NM_017882.3(CLN6):c.487-15C>T
|
rs200775021
|
0.00049
|
NM_024411.5(PDYN):c.*231C>G
|
rs565210312
|
0.00049
|
NM_000447.3(PSEN2):c.-184C>T
|
rs149590162
|
0.00048
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)
|
rs112944532
|
0.00048
|
NM_006796.3(AFG3L2):c.*221A>G
|
rs886053613
|
0.00048
|
NM_014043.4(CHMP2B):c.*744C>A
|
rs185167991
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000487.6(ARSA):c.*1212T>G
|
rs868201030
|
0.00047
|
NM_031448.6(C19orf12):c.*1557T>C
|
rs116963085
|
0.00047
|
NM_000021.4(PSEN1):c.-180C>T
|
rs200632899
|
0.00046
|
NM_000484.4(APP):c.*489A>G
|
rs199862130
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
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_002739.5(PRKCG):c.*622C>G
|
rs1032868211
|
0.00046
|
NM_007375.4(TARDBP):c.*2154G>T
|
rs886045048
|
0.00046
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_198994.3(TGM6):c.1452C>T (p.Asp484=)
|
rs142748417
|
0.00046
|
NM_000484.4(APP):c.663-9C>A
|
rs199587668
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756
|
0.00045
|
NM_001378452.1(ITPR1):c.*942G>T
|
rs41308218
|
0.00044
|
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)
|
rs201519806
|
0.00044
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00044
|
NM_002222.6(ITPR1):c.*1533G>A
|
rs377290142
|
0.00044
|
NM_003560.4(PLA2G6):c.966C>T (p.His322=)
|
rs144033740
|
0.00044
|
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
|
rs145515028
|
0.00044
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
NM_000484.4(APP):c.592T>C (p.Ser198Pro)
|
rs145081708
|
0.00043
|
NM_007126.5(VCP):c.*367G>A
|
rs768675930
|
0.00043
|
NM_025000.4(DCAF17):c.*2312G>A
|
rs777311799
|
0.00043
|
NM_025000.4(DCAF17):c.*2591A>G
|
rs748228250
|
0.00043
|
NM_033305.3(VPS13A):c.*185A>G
|
rs773434698
|
0.00043
|
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
|
rs139058165
|
0.00042
|
NM_000391.4(TPP1):c.*1282C>A
|
rs1032115129
|
0.00042
|
NM_000520.6(HEXA):c.*436C>T
|
rs112626309
|
0.00042
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)
|
rs201776669
|
0.00041
|
NM_000096.4(CP):c.788A>G (p.Asn263Ser)
|
rs150303869
|
0.00041
|
NM_000391.4(TPP1):c.*312T>C
|
rs201122774
|
0.00041
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr)
|
rs138836272
|
0.00041
|
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)
|
rs141777179
|
0.00041
|
NM_004960.3(FUS):c.*3231T>C
|
rs193018950
|
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_025000.4(DCAF17):c.*2429A>G
|
rs778932293
|
0.00041
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001257180.2(SLC20A2):c.*482T>C
|
rs558754799
|
0.00040
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
NM_007126.5(VCP):c.832T>C (p.Leu278=)
|
rs200670526
|
0.00040
|
NM_000021.4(PSEN1):c.*3848G>C
|
rs886050682
|
0.00039
|
NM_000487.6(ARSA):c.*2316C>T
|
rs117951552
|
0.00039
|
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met)
|
rs61758431
|
0.00039
|
NM_004115.4(FGF14):c.*176C>G
|
rs191705440
|
0.00039
|
NM_017882.3(CLN6):c.*882C>T
|
rs766413849
|
0.00039
|
NM_018325.5(C9orf72):c.*901T>C
|
rs774314112
|
0.00039
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
NM_025000.4(DCAF17):c.1426T>C (p.Tyr476His)
|
rs142735693
|
0.00039
|
NM_000021.4(PSEN1):c.*2604C>T
|
rs773295728
|
0.00038
|
NM_000021.4(PSEN1):c.*3328C>G
|
rs181726819
|
0.00038
|
NM_001130823.3(DNMT1):c.*253G>A
|
rs768761819
|
0.00038
|
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg)
|
rs62621087
|
0.00038
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
NM_173500.4(TTBK2):c.-279C>A
|
rs866690514
|
0.00038
|
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=)
|
rs201662235
|
0.00038
|
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)
|
rs116640707
|
0.00037
|
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
|
rs145545199
|
0.00037
|
NM_000096.4(CP):c.938C>T (p.Thr313Ile)
|
rs144401501
|
0.00037
|
NM_000146.4(FTL):c.*24C>T
|
rs368083362
|
0.00037
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=)
|
rs201621621
|
0.00037
|
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile)
|
rs200646875
|
0.00037
|
NM_198994.3(TGM6):c.622G>A (p.Val208Met)
|
rs61743614
|
0.00037
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_002222.6(ITPR1):c.*1347G>T
|
rs547675218
|
0.00036
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
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_018325.5(C9orf72):c.1149+9T>C
|
rs139352974
|
0.00036
|
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)
|
rs144201778
|
0.00036
|
NM_198994.3(TGM6):c.555C>T (p.Asp185=)
|
rs144101264
|
0.00036
|
NM_000021.4(PSEN1):c.*1585A>T
|
rs185405511
|
0.00035
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)
|
rs199584370
|
0.00035
|
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=)
|
rs144675407
|
0.00035
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_002739.5(PRKCG):c.*550C>T
|
rs778703745
|
0.00035
|
NM_002778.4(PSAP):c.-29C>T
|
rs201780377
|
0.00035
|
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)
|
rs150024227
|
0.00035
|
NM_007126.5(VCP):c.*700C>A
|
rs537730311
|
0.00035
|
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)
|
rs148026506
|
0.00035
|
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys)
|
rs144290291
|
0.00035
|
NM_173500.4(TTBK2):c.-130G>C
|
rs886051164
|
0.00035
|
NM_000033.4(ABCD1):c.1047C>A (p.Val349=)
|
rs185931852
|
0.00034
|
NM_000487.6(ARSA):c.*2037C>T
|
rs568146327
|
0.00034
|
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)
|
rs116122164
|
0.00034
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=)
|
rs41290672
|
0.00034
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_006946.4(SPTBN2):c.*121A>G
|
rs554283435
|
0.00034
|
NM_007375.4(TARDBP):c.239-15G>A
|
rs200066188
|
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_031448.6(C19orf12):c.-11+149G>C
|
rs367660476
|
0.00034
|
NM_173500.4(TTBK2):c.*185A>G
|
rs376104201
|
0.00034
|
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser)
|
rs200674917
|
0.00034
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
NM_000447.3(PSEN2):c.690C>G (p.Ala230=)
|
rs145010538
|
0.00033
|
NM_000484.4(APP):c.*724C>T
|
rs146774213
|
0.00033
|
NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=)
|
rs199935692
|
0.00033
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_004115.4(FGF14):c.123C>T (p.Asn41=)
|
rs372705140
|
0.00033
|
NM_000033.4(ABCD1):c.*903G>A
|
rs78155328
|
0.00032
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)
|
rs373973399
|
0.00032
|
NM_001909.5(CTSD):c.*736C>G
|
rs577842141
|
0.00032
|
NM_007126.5(VCP):c.2406T>C (p.Asp802=)
|
rs145508640
|
0.00032
|
NM_007375.4(TARDBP):c.*666G>A
|
rs778834503
|
0.00032
|
NM_025219.3(DNAJC5):c.*4131C>T
|
rs146360147
|
0.00032
|
NM_000021.4(PSEN1):c.*2529G>T
|
rs574941431
|
0.00031
|
NM_000033.4(ABCD1):c.*767C>T
|
rs1276642493
|
0.00031
|
NM_000487.6(ARSA):c.*15G>A
|
rs377187248
|
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_001257180.2(SLC20A2):c.849C>T (p.Ser283=)
|
rs114218633
|
0.00031
|
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=)
|
rs370939479
|
0.00031
|
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=)
|
rs373127487
|
0.00031
|
NM_007375.4(TARDBP):c.*2773A>G
|
rs187380325
|
0.00031
|
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)
|
rs148970081
|
0.00031
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696
|
0.00031
|
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)
|
rs63750592
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)
|
rs199994961
|
0.00030
|
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val)
|
rs142981309
|
0.00030
|
NM_000021.4(PSEN1):c.*2659A>T
|
rs531711335
|
0.00029
|
NM_000021.4(PSEN1):c.*4078C>T
|
rs533047073
|
0.00029
|
NM_000096.4(CP):c.*373C>G
|
rs370247691
|
0.00029
|
NM_000096.4(CP):c.2997C>T (p.His999=)
|
rs147475926
|
0.00029
|
NM_000391.4(TPP1):c.*241T>C
|
rs74843914
|
0.00029
|
NM_000487.6(ARSA):c.-142G>A
|
rs886057660
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
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_001378452.1(ITPR1):c.*279A>G
|
rs886058645
|
0.00029
|
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=)
|
rs368405302
|
0.00029
|
NM_001909.5(CTSD):c.1071+7G>A
|
rs374010531
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_004115.4(FGF14):c.384T>C (p.Asn128=)
|
rs41281646
|
0.00029
|
NM_006946.4(SPTBN2):c.-56C>T
|
rs527588843
|
0.00029
|
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)
|
rs148750997
|
0.00029
|
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)
|
rs189313287
|
0.00029
|
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107
|
0.00029
|
NM_025000.4(DCAF17):c.913A>G (p.Ile305Val)
|
rs114419034
|
0.00029
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)
|
rs200124857
|
0.00029
|
NM_198994.3(TGM6):c.277A>G (p.Met93Val)
|
rs146529216
|
0.00029
|
NM_000021.4(PSEN1):c.*4367T>C
|
rs574271978
|
0.00028
|
NM_000784.4(CYP27A1):c.*47G>A
|
rs140059093
|
0.00028
|
NM_002778.4(PSAP):c.-28A>C
|
rs375720661
|
0.00028
|
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)
|
rs142530390
|
0.00028
|
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)
|
rs764407421
|
0.00028
|
NM_022089.4(ATP13A2):c.*243A>C
|
rs777596557
|
0.00028
|
NM_025219.3(DNAJC5):c.*274C>T
|
rs762734761
|
0.00028
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=)
|
rs201311531
|
0.00027
|
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu)
|
rs201524659
|
0.00027
|
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)
|
rs201694328
|
0.00027
|
NM_000021.4(PSEN1):c.*2325A>G
|
rs546052493
|
0.00026
|
NM_000096.4(CP):c.2565C>T (p.Leu855=)
|
rs781672409
|
0.00026
|
NM_000487.6(ARSA):c.*2301T>C
|
rs534387866
|
0.00026
|
NM_001257180.2(SLC20A2):c.1572C>T (p.Gly524=)
|
rs116795654
|
0.00026
|
NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=)
|
rs141545390
|
0.00026
|
NM_001376.5(DYNC1H1):c.-13C>G
|
rs537857759
|
0.00026
|
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)
|
rs143517230
|
0.00026
|
NM_004960.3(FUS):c.*1034C>T
|
rs181164144
|
0.00026
|
NM_007375.4(TARDBP):c.*2333C>T
|
rs138320721
|
0.00026
|
NM_017882.3(CLN6):c.*284C>T
|
rs536039114
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_031448.6(C19orf12):c.*1854G>A
|
rs565402320
|
0.00026
|
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)
|
rs148891181
|
0.00026
|
NM_198994.3(TGM6):c.1171G>A (p.Val391Met)
|
rs116904482
|
0.00026
|
NM_000021.4(PSEN1):c.*768A>G
|
rs200194433
|
0.00025
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_001257180.2(SLC20A2):c.*409A>G
|
rs190717111
|
0.00025
|
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)
|
rs367814655
|
0.00025
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
NM_004960.3(FUS):c.*1089G>A
|
rs184277413
|
0.00025
|
NM_018325.5(C9orf72):c.*317A>G
|
rs886063839
|
0.00025
|
NM_025000.4(DCAF17):c.*1747C>A
|
rs747014569
|
0.00025
|
NM_000487.6(ARSA):c.*1207T>G
|
rs985590155
|
0.00024
|
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=)
|
rs143904813
|
0.00024
|
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)
|
rs138841970
|
0.00024
|
NM_001256054.3(C9orf72):c.-115A>C
|
rs183102304
|
0.00024
|
NM_002739.5(PRKCG):c.1281+9G>C
|
rs370400523
|
0.00024
|
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)
|
rs147924368
|
0.00024
|
NM_004960.3(FUS):c.*1451A>G
|
rs960906406
|
0.00024
|
NM_004960.4(FUS):c.764+12A>C
|
rs143916861
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_007375.4(TARDBP):c.*2740G>A
|
rs566658679
|
0.00024
|
NM_014043.4(CHMP2B):c.*1647A>G
|
rs534772903
|
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_025000.4(DCAF17):c.*15T>C
|
rs146258833
|
0.00024
|
NM_025000.4(DCAF17):c.209A>G (p.Asn70Ser)
|
rs200380164
|
0.00024
|
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)
|
rs200125366
|
0.00024
|
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu)
|
rs183670042
|
0.00024
|
NM_000021.4(PSEN1):c.*3130C>T
|
rs550055242
|
0.00023
|
NM_000487.6(ARSA):c.*342A>G
|
rs182635438
|
0.00023
|
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile)
|
rs201213597
|
0.00023
|
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)
|
rs62621089
|
0.00023
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_007126.5(VCP):c.-250C>T
|
rs886063894
|
0.00023
|
NM_025000.4(DCAF17):c.*3880G>T
|
rs754667938
|
0.00023
|
NM_025219.3(DNAJC5):c.*4387C>G
|
rs550273913
|
0.00023
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
NM_000447.3(PSEN2):c.954C>T (p.Pro318=)
|
rs199587016
|
0.00022
|
NM_000487.6(ARSA):c.*2368A>T
|
rs570115432
|
0.00022
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_000784.4(CYP27A1):c.*195G>C
|
rs886055632
|
0.00022
|
NM_001378452.1(ITPR1):c.*1008A>G
|
rs141084091
|
0.00022
|
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=)
|
rs371986594
|
0.00022
|
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=)
|
rs370157764
|
0.00022
|
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)
|
rs528149001
|
0.00022
|
NM_001909.5(CTSD):c.*358C>T
|
rs542969755
|
0.00022
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
NM_004960.4(FUS):c.1080C>T (p.Ser360=)
|
rs190724342
|
0.00022
|
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)
|
rs80356715
|
0.00022
|
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr)
|
rs146198681
|
0.00022
|
NM_024411.5(PDYN):c.691C>A (p.Arg231=)
|
rs201204862
|
0.00022
|
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln)
|
rs202231211
|
0.00022
|
NM_000096.4(CP):c.1104G>C (p.Gly368=)
|
rs142503847
|
0.00021
|
NM_000391.4(TPP1):c.*223T>C
|
rs538963672
|
0.00021
|
NM_000487.6(ARSA):c.*527A>G
|
rs898694289
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810
|
0.00021
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135
|
0.00021
|
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=)
|
rs200487406
|
0.00021
|
NM_002222.6(ITPR1):c.*1611G>A
|
rs565800630
|
0.00021
|
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp)
|
rs116236420
|
0.00021
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00021
|
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)
|
rs376219874
|
0.00021
|
NM_007375.4(TARDBP):c.*670T>C
|
rs745611651
|
0.00021
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
NM_018325.5(C9orf72):c.*122G>A
|
rs549202876
|
0.00021
|
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=)
|
rs61741838
|
0.00021
|
NM_031448.6(C19orf12):c.-11+124G>T
|
rs767622377
|
0.00021
|
NM_198994.3(TGM6):c.940G>A (p.Val314Met)
|
rs202184911
|
0.00021
|
NM_000021.4(PSEN1):c.*1625A>G
|
rs750857788
|
0.00020
|
NM_000033.4(ABCD1):c.*412T>C
|
rs1057515815
|
0.00020
|
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)
|
rs138672490
|
0.00020
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_033305.3(VPS13A):c.1453-15C>T
|
rs200334710
|
0.00020
|
NM_000096.4(CP):c.1217C>A (p.Ala406Glu)
|
rs147034302
|
0.00019
|
NM_000306.4(POU1F1):c.666-6C>T
|
rs201995103
|
0.00019
|
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser)
|
rs200636353
|
0.00019
|
NM_000484.4(APP):c.*194A>C
|
rs199977643
|
0.00019
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
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.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=)
|
rs369470867
|
0.00019
|
NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met)
|
rs145970823
|
0.00019
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)
|
rs147641822
|
0.00019
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)
|
rs371920697
|
0.00019
|
NM_006796.3(AFG3L2):c.*484A>G
|
rs565352114
|
0.00019
|
NM_007375.4(TARDBP):c.*214T>C
|
rs557787340
|
0.00019
|
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)
|
rs148325203
|
0.00019
|
NM_018325.5(C9orf72):c.462C>T (p.Val154=)
|
rs188263738
|
0.00019
|
NM_025000.4(DCAF17):c.*926G>T
|
rs62183509
|
0.00019
|
NM_173500.4(TTBK2):c.*967G>A
|
rs569220743
|
0.00019
|
NM_173500.4(TTBK2):c.-51C>T
|
rs374364415
|
0.00019
|
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=)
|
rs138233092
|
0.00018
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)
|
rs143501870
|
0.00018
|
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)
|
rs146252218
|
0.00018
|
NM_031448.6(C19orf12):c.*3242C>T
|
rs886054314
|
0.00018
|
NM_173500.4(TTBK2):c.*490T>C
|
rs142589086
|
0.00018
|
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly)
|
rs141178275
|
0.00018
|
NM_000096.4(CP):c.944A>G (p.Asn315Ser)
|
rs370682704
|
0.00017
|
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)
|
rs144770450
|
0.00017
|
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=)
|
rs184125970
|
0.00017
|
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=)
|
rs141264613
|
0.00017
|
NM_002739.5(PRKCG):c.286-12C>A
|
rs143352499
|
0.00017
|
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)
|
rs146684391
|
0.00017
|
NM_025000.4(DCAF17):c.*1124G>A
|
rs779974974
|
0.00017
|
NM_025219.3(DNAJC5):c.*3839G>A
|
rs145028189
|
0.00017
|
NM_031448.6(C19orf12):c.*1897A>T
|
rs528651591
|
0.00017
|
NM_031448.6(C19orf12):c.*2222A>C
|
rs535994327
|
0.00017
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
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_001130823.3(DNMT1):c.1896G>A (p.Thr632=)
|
rs202058239
|
0.00016
|
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=)
|
rs116068659
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=)
|
rs375234629
|
0.00016
|
NM_001378452.1(ITPR1):c.2007-7T>G
|
rs764512335
|
0.00016
|
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)
|
rs200534989
|
0.00016
|
NM_002778.4(PSAP):c.*376A>G
|
rs141906397
|
0.00016
|
NM_002778.4(PSAP):c.*737G>A
|
rs147046509
|
0.00016
|
NM_004960.3(FUS):c.*1286C>G
|
rs547623704
|
0.00016
|
NM_004960.3(FUS):c.*2299A>C
|
rs774311328
|
0.00016
|
NM_006796.2(AFG3L2):c.-179C>T
|
rs576218520
|
0.00016
|
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=)
|
rs141538541
|
0.00016
|
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=)
|
rs201752194
|
0.00016
|
NM_007375.4(TARDBP):c.*2823T>C
|
rs961126665
|
0.00016
|
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)
|
rs143178463
|
0.00016
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
NM_024411.5(PDYN):c.*836C>G
|
rs80315813
|
0.00016
|
NM_025000.4(DCAF17):c.*2113C>A
|
rs139529937
|
0.00016
|
NM_025000.4(DCAF17):c.*2943C>T
|
rs965835850
|
0.00016
|
NM_025219.3(DNAJC5):c.*3432G>A
|
rs1051821
|
0.00016
|
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)
|
rs200107412
|
0.00016
|
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)
|
rs199635198
|
0.00016
|
NM_198994.3(TGM6):c.-42C>T
|
rs376489998
|
0.00016
|
NM_000021.4(PSEN1):c.*4095A>G
|
rs369540718
|
0.00015
|
NM_000096.4(CP):c.1191C>G (p.Asn397Lys)
|
rs146229133
|
0.00015
|
NM_000096.4(CP):c.151C>T (p.His51Tyr)
|
rs150681942
|
0.00015
|
NM_000391.4(TPP1):c.*1774G>A
|
rs886048532
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
|
rs775444653
|
0.00015
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
NM_002103.5(GYS1):c.*370A>C
|
rs185366453
|
0.00015
|
NM_004960.3(FUS):c.*1834A>G
|
rs758999415
|
0.00015
|
NM_006796.3(AFG3L2):c.*326G>A
|
rs180917336
|
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_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
NM_000021.4(PSEN1):c.*390T>G
|
rs200372973
|
0.00014
|
NM_000484.4(APP):c.1689T>C (p.Asp563=)
|
rs137865262
|
0.00014
|
NM_001042432.2(CLN3):c.*200A>G
|
rs561135374
|
0.00014
|
NM_001130823.3(DNMT1):c.2020-10C>T
|
rs369373339
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479
|
0.00014
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=)
|
rs375533002
|
0.00014
|
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)
|
rs369681244
|
0.00014
|
NM_001909.5(CTSD):c.*403C>T
|
rs140852332
|
0.00014
|
NM_001909.5(CTSD):c.*494C>T
|
rs551867617
|
0.00014
|
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)
|
rs749966284
|
0.00014
|
NM_004960.3(FUS):c.*1750C>T
|
rs191806441
|
0.00014
|
NM_004960.4(FUS):c.687T>C (p.Gly229=)
|
rs781445592
|
0.00014
|
NM_006796.2(AFG3L2):c.-206C>A
|
rs564906201
|
0.00014
|
NM_006796.2(AFG3L2):c.-207T>A
|
rs533486310
|
0.00014
|
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
|
rs192188850
|
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_033305.3(VPS13A):c.9314T>A (p.Leu3105His)
|
rs141321409
|
0.00014
|
NM_033305.3(VPS13A):c.971A>G (p.His324Arg)
|
rs138568018
|
0.00014
|
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp)
|
rs148854519
|
0.00014
|
NM_198994.3(TGM6):c.632G>A (p.Arg211His)
|
rs192045738
|
0.00014
|
NM_000021.4(PSEN1):c.*1316G>T
|
rs909535762
|
0.00013
|
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)
|
rs781793261
|
0.00013
|
NM_000096.3(CP):c.-165C>T
|
rs536533840
|
0.00013
|
NM_000096.4(CP):c.93G>A (p.Thr31=)
|
rs201521886
|
0.00013
|
NM_000447.3(PSEN2):c.*103C>T
|
rs571670427
|
0.00013
|
NM_000447.3(PSEN2):c.*378G>C
|
rs200173939
|
0.00013
|
NM_000484.4(APP):c.355+9G>A
|
rs371324252
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=)
|
rs199832007
|
0.00013
|
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)
|
rs146601335
|
0.00013
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367
|
0.00013
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519
|
0.00013
|
NM_001378452.1(ITPR1):c.6180+11T>A
|
rs772860677
|
0.00013
|
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
|
rs202073338
|
0.00013
|
NM_002739.5(PRKCG):c.822-14C>T
|
rs367639661
|
0.00013
|
NM_002778.4(PSAP):c.557G>A (p.Arg186His)
|
rs138880818
|
0.00013
|
NM_004115.4(FGF14):c.*1772C>A
|
rs761322568
|
0.00013
|
NM_007126.5(VCP):c.*347C>T
|
rs886063888
|
0.00013
|
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)
|
rs138886714
|
0.00013
|
NM_017882.3(CLN6):c.*246G>A
|
rs886051441
|
0.00013
|
NM_017882.3(CLN6):c.*69G>T
|
rs761969677
|
0.00013
|
NM_018325.5(C9orf72):c.*32A>C
|
rs759595881
|
0.00013
|
NM_024411.5(PDYN):c.*346G>A
|
rs780894307
|
0.00013
|
NM_025219.3(DNAJC5):c.*3375C>T
|
rs886056951
|
0.00013
|
NM_031448.6(C19orf12):c.*1536T>C
|
rs182215624
|
0.00013
|
NM_031448.6(C19orf12):c.*3745G>A
|
rs140771696
|
0.00013
|
NM_033305.3(VPS13A):c.*1194A>C
|
rs556413345
|
0.00013
|
NM_033305.3(VPS13A):c.787G>A (p.Val263Met)
|
rs372957084
|
0.00013
|
NM_173500.4(TTBK2):c.*536T>C
|
rs902865683
|
0.00013
|
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)
|
rs764753481
|
0.00013
|
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=)
|
rs185441376
|
0.00013
|
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)
|
rs143782428
|
0.00012
|
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)
|
rs368061976
|
0.00012
|
NM_000484.4(APP):c.*738T>C
|
rs201621005
|
0.00012
|
NM_000487.6(ARSA):c.*625G>A
|
rs778826401
|
0.00012
|
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg)
|
rs139073195
|
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.90G>A (p.Thr30=)
|
rs368529527
|
0.00012
|
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)
|
rs143250889
|
0.00012
|
NM_004960.3(FUS):c.*1581T>C
|
rs751331525
|
0.00012
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00012
|
NM_014043.4(CHMP2B):c.*836T>C
|
rs189927047
|
0.00012
|
NM_017882.3(CLN6):c.*1023G>A
|
rs760989550
|
0.00012
|
NM_018325.5(C9orf72):c.682T>C (p.Leu228=)
|
rs147034723
|
0.00012
|
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)
|
rs369863178
|
0.00012
|
NM_031448.6(C19orf12):c.*1488T>G
|
rs777128142
|
0.00012
|
NM_000021.4(PSEN1):c.654A>G (p.Pro218=)
|
rs115760359
|
0.00011
|
NM_000033.4(ABCD1):c.*473C>T
|
rs782343473
|
0.00011
|
NM_000096.4(CP):c.*572A>G
|
rs561191589
|
0.00011
|
NM_000096.4(CP):c.1493A>G (p.Gln498Arg)
|
rs17847018
|
0.00011
|
NM_000096.4(CP):c.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
NM_000096.4(CP):c.782-3C>T
|
rs375191868
|
0.00011
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met)
|
rs142690225
|
0.00011
|
NM_000484.4(APP):c.*454A>G
|
rs200492624
|
0.00011
|
NM_000484.4(APP):c.225+14G>A
|
rs199644062
|
0.00011
|
NM_000484.4(APP):c.602C>T (p.Ala201Val)
|
rs149995579
|
0.00011
|
NM_000487.6(ARSA):c.*1171A>G
|
rs918518184
|
0.00011
|
NM_000487.6(ARSA):c.-88G>A
|
rs562486733
|
0.00011
|
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)
|
rs551548107
|
0.00011
|
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)
|
rs201774098
|
0.00011
|
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys)
|
rs200024502
|
0.00011
|
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro)
|
rs143287044
|
0.00011
|
NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=)
|
rs201586836
|
0.00011
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_001378452.1(ITPR1):c.1886+14G>A
|
rs370584403
|
0.00011
|
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=)
|
rs375801584
|
0.00011
|
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys)
|
rs377248442
|
0.00011
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
NM_001378452.1(ITPR1):c.7737C>T (p.Leu2579=)
|
rs148734757
|
0.00011
|
NM_003560.4(PLA2G6):c.*191C>T
|
rs886057499
|
0.00011
|
NM_004960.3(FUS):c.*2851T>C
|
rs745882198
|
0.00011
|
NM_006749.5(SLC20A2):c.-372T>C
|
rs997866933
|
0.00011
|
NM_007126.5(VCP):c.*382C>T
|
rs749381324
|
0.00011
|
NM_007126.5(VCP):c.-215A>G
|
rs886063893
|
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_018325.5(C9orf72):c.477A>G (p.Leu159=)
|
rs374411112
|
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_022124.6(CDH23):c.*80G>A
|
rs75715348
|
0.00011
|
NM_025000.4(DCAF17):c.*2380A>G
|
rs553179661
|
0.00011
|
NM_025219.3(DNAJC5):c.*3213G>A
|
rs902946721
|
0.00011
|
NM_025219.3(DNAJC5):c.*3550C>T
|
rs546308193
|
0.00011
|
NM_031448.6(C19orf12):c.*1595G>A
|
rs537395968
|
0.00011
|
NM_031448.6(C19orf12):c.*1827G>C
|
rs761080233
|
0.00011
|
NM_031448.6(C19orf12):c.*2449G>A
|
rs746421147
|
0.00011
|
NM_031448.6(C19orf12):c.*281C>T
|
rs140718921
|
0.00011
|
NM_033305.3(VPS13A):c.1785+7A>G
|
rs367906505
|
0.00011
|
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser)
|
rs139073067
|
0.00011
|
NM_000021.3(PSEN1):c.-226C>A
|
rs200531676
|
0.00010
|
NM_000021.4(PSEN1):c.*1418G>A
|
rs886050668
|
0.00010
|
NM_000021.4(PSEN1):c.*2865C>A
|
rs886050679
|
0.00010
|
NM_000096.4(CP):c.1357A>G (p.Ile453Val)
|
rs145762017
|
0.00010
|
NM_000391.4(TPP1):c.*346A>G
|
rs149218047
|
0.00010
|
NM_000447.3(PSEN2):c.*377C>T
|
rs202160009
|
0.00010
|
NM_000447.3(PSEN2):c.300C>T (p.Ile100=)
|
rs200801915
|
0.00010
|
NM_000484.4(APP):c.*913C>G
|
rs202081585
|
0.00010
|
NM_000487.6(ARSA):c.*794C>T
|
rs886057652
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
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_001257180.2(SLC20A2):c.935-12A>C
|
rs144236532
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)
|
rs564606657
|
0.00010
|
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)
|
rs764386803
|
0.00010
|
NM_002739.5(PRKCG):c.*84C>A
|
rs995740073
|
0.00010
|
NM_002739.5(PRKCG):c.234C>T (p.His78=)
|
rs143456958
|
0.00010
|
NM_002778.4(PSAP):c.*574G>C
|
rs549402343
|
0.00010
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)
|
rs200599704
|
0.00010
|
NM_004115.4(FGF14):c.*993C>T
|
rs752896423
|
0.00010
|
NM_004960.3(FUS):c.*1843G>A
|
rs886051951
|
0.00010
|
NM_004960.4(FUS):c.1169-11A>G
|
rs181859716
|
0.00010
|
NM_006796.3(AFG3L2):c.-139T>C
|
rs542643055
|
0.00010
|
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg)
|
rs190532690
|
0.00010
|
NM_014043.4(CHMP2B):c.*718C>T
|
rs918982067
|
0.00010
|
NM_024411.5(PDYN):c.-162A>G
|
rs886056537
|
0.00010
|
NM_024411.5(PDYN):c.483C>G (p.Leu161=)
|
rs773513924
|
0.00010
|
NM_025219.3(DNAJC5):c.*2933C>T
|
rs886056946
|
0.00010
|
NM_031448.6(C19orf12):c.*2270T>G
|
rs748603317
|
0.00010
|
NM_031448.6(C19orf12):c.*3288T>G
|
rs778264130
|
0.00010
|
NM_033305.3(VPS13A):c.*474G>A
|
rs531360785
|
0.00010
|
NM_033305.3(VPS13A):c.-158G>C
|
rs1057515644
|
0.00010
|
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=)
|
rs372019796
|
0.00010
|
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met)
|
rs151129933
|
0.00010
|
NM_173500.4(TTBK2):c.-68+15C>G
|
rs886051163
|
0.00010
|
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg)
|
rs375595045
|
0.00010
|
NM_198994.3(TGM6):c.951C>T (p.Phe317=)
|
rs201333931
|
0.00010
|
NM_000021.4(PSEN1):c.*1980C>T
|
rs188214574
|
0.00009
|
NM_000146.4(FTL):c.250-6A>G
|
rs370216913
|
0.00009
|
NM_000391.4(TPP1):c.*1478T>A
|
rs775934269
|
0.00009
|
NM_000391.4(TPP1):c.*704C>T
|
rs1033619913
|
0.00009
|
NM_000447.3(PSEN2):c.*20G>A
|
rs201399057
|
0.00009
|
NM_000487.6(ARSA):c.*1987G>A
|
rs886057643
|
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_001130823.3(DNMT1):c.*274T>C
|
rs886054125
|
0.00009
|
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met)
|
rs148038464
|
0.00009
|
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=)
|
rs764496230
|
0.00009
|
NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro)
|
rs201319352
|
0.00009
|
NM_001256054.3(C9orf72):c.-152A>G
|
rs756998583
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_001378452.1(ITPR1):c.*580T>G
|
rs1266500433
|
0.00009
|
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu)
|
rs146902739
|
0.00009
|
NM_001909.5(CTSD):c.-24C>T
|
rs587780917
|
0.00009
|
NM_002087.4(GRN):c.-22C>T
|
rs572309824
|
0.00009
|
NM_002087.4(GRN):c.1647C>T (p.Gly549=)
|
rs745391227
|
0.00009
|
NM_002087.4(GRN):c.497C>T (p.Pro166Leu)
|
rs368705304
|
0.00009
|
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)
|
rs140066253
|
0.00009
|
NM_002778.4(PSAP):c.577-10T>C
|
rs185892516
|
0.00009
|
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)
|
rs200008050
|
0.00009
|
NM_003560.4(PLA2G6):c.1742+12C>T
|
rs11570739
|
0.00009
|
NM_004960.4(FUS):c.222A>G (p.Gly74=)
|
rs757454595
|
0.00009
|
NM_006946.4(SPTBN2):c.*61G>A
|
rs566929715
|
0.00009
|
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=)
|
rs150837212
|
0.00009
|
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=)
|
rs141552965
|
0.00009
|
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
NM_006946.4(SPTBN2):c.6940-11T>C
|
rs551276248
|
0.00009
|
NM_007375.4(TARDBP):c.945G>A (p.Ala315=)
|
rs145364830
|
0.00009
|
NM_014043.4(CHMP2B):c.*1421C>T
|
rs1016915311
|
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_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_024411.4(PDYN):c.-241G>C
|
rs574928545
|
0.00009
|
NM_024411.5(PDYN):c.*33A>C
|
rs556095353
|
0.00009
|
NM_024411.5(PDYN):c.*78A>G
|
rs537887207
|
0.00009
|
NM_025000.4(DCAF17):c.*126A>T
|
rs139116642
|
0.00009
|
NM_025000.4(DCAF17):c.192A>G (p.Gly64=)
|
rs200189652
|
0.00009
|
NM_025219.3(DNAJC5):c.*4036G>A
|
rs758582743
|
0.00009
|
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys)
|
rs146265794
|
0.00009
|
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
NM_198994.3(TGM6):c.990-6T>C
|
rs370391681
|
0.00009
|
NM_000487.6(ARSA):c.728G>A (p.Arg243His)
|
rs142142638
|
0.00008
|
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)
|
rs377369610
|
0.00008
|
NM_001130823.3(DNMT1):c.*29G>A
|
rs749247799
|
0.00008
|
NM_001257180.2(SLC20A2):c.*798G>A
|
rs767551448
|
0.00008
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706
|
0.00008
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
NM_001378452.1(ITPR1):c.997-6C>T
|
rs139421901
|
0.00008
|
NM_001909.5(CTSD):c.*130G>A
|
rs1002940636
|
0.00008
|
NM_002087.3(GRN):c.-100A>G
|
rs956983853
|
0.00008
|
NM_002087.4(GRN):c.1341C>T (p.His447=)
|
rs63750775
|
0.00008
|
NM_002087.4(GRN):c.626C>T (p.Pro209Leu)
|
rs368995988
|
0.00008
|
NM_002739.5(PRKCG):c.940-3C>T
|
rs377593245
|
0.00008
|
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)
|
rs749660716
|
0.00008
|
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)
|
rs150572286
|
0.00008
|
NM_003560.4(PLA2G6):c.895-11G>A
|
rs371094406
|
0.00008
|
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr)
|
rs759505522
|
0.00008
|
NM_006946.4(SPTBN2):c.5884C>T (p.Arg1962Cys)
|
rs200370228
|
0.00008
|
NM_006946.4(SPTBN2):c.5950-9C>T
|
rs554781314
|
0.00008
|
NM_007375.4(TARDBP):c.36C>T (p.Asn12=)
|
rs565091566
|
0.00008
|
NM_017882.3(CLN6):c.*470C>T
|
rs565006193
|
0.00008
|
NM_017882.3(CLN6):c.*481T>G
|
rs746416658
|
0.00008
|
NM_018325.5(C9orf72):c.*1548G>A
|
rs549660498
|
0.00008
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
NM_024411.5(PDYN):c.*522C>T
|
rs886056532
|
0.00008
|
NM_025000.4(DCAF17):c.*2747C>T
|
rs886055116
|
0.00008
|
NM_025000.4(DCAF17):c.27G>A (p.Val9=)
|
rs570110822
|
0.00008
|
NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu)
|
rs150095386
|
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_033305.3(VPS13A):c.3193A>G (p.Ile1065Val)
|
rs143067406
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)
|
rs200755494
|
0.00008
|
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)
|
rs201347313
|
0.00008
|
NM_198994.3(TGM6):c.1170C>T (p.Phe390=)
|
rs765423180
|
0.00008
|
NM_000021.4(PSEN1):c.*1874G>T
|
rs141117435
|
0.00007
|
NM_000021.4(PSEN1):c.*265A>G
|
rs199643125
|
0.00007
|
NM_000021.4(PSEN1):c.*2846G>A
|
rs370528248
|
0.00007
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)
|
rs187293972
|
0.00007
|
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_000487.6(ARSA):c.1334G>T (p.Gly445Val)
|
rs540762357
|
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_001130823.3(DNMT1):c.3936C>T (p.Phe1312=)
|
rs367637414
|
0.00007
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001378452.1(ITPR1):c.*243G>A
|
rs963189027
|
0.00007
|
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser)
|
rs369108656
|
0.00007
|
NM_001909.5(CTSD):c.*398G>A
|
rs776662882
|
0.00007
|
NM_002739.5(PRKCG):c.498G>T (p.Arg166=)
|
rs148370843
|
0.00007
|
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)
|
rs373930150
|
0.00007
|
NM_004115.4(FGF14):c.*567G>C
|
rs546536488
|
0.00007
|
NM_004960.3(FUS):c.*1375C>T
|
rs542241137
|
0.00007
|
NM_004960.3(FUS):c.*1610C>T
|
rs538629605
|
0.00007
|
NM_004960.3(FUS):c.*2314C>G
|
rs768611402
|
0.00007
|
NM_006749.4(SLC20A2):c.-411C>T
|
rs886574926
|
0.00007
|
NM_006796.2(AFG3L2):c.-151C>T
|
rs554944971
|
0.00007
|
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)
|
rs753324919
|
0.00007
|
NM_007375.4(TARDBP):c.*663C>T
|
rs1401373740
|
0.00007
|
NM_017882.3(CLN6):c.*175C>T
|
rs886051444
|
0.00007
|
NM_018325.5(C9orf72):c.*891A>G
|
rs952713285
|
0.00007
|
NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr)
|
rs760887239
|
0.00007
|
NM_018325.5(C9orf72):c.765G>A (p.Leu255=)
|
rs758724401
|
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_025000.4(DCAF17):c.1266+6G>A
|
rs557741620
|
0.00007
|
NM_025000.4(DCAF17):c.1422+14G>A
|
rs368707741
|
0.00007
|
NM_025000.4(DCAF17):c.581G>A (p.Arg194Gln)
|
rs371230892
|
0.00007
|
NM_025219.3(DNAJC5):c.-186C>T
|
rs886056927
|
0.00007
|
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro)
|
rs148227344
|
0.00007
|
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=)
|
rs189138644
|
0.00007
|
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser)
|
rs371055567
|
0.00007
|
NM_198994.3(TGM6):c.834C>T (p.Ala278=)
|
rs371740473
|
0.00007
|
NM_000021.4(PSEN1):c.*1380C>T
|
rs181825217
|
0.00006
|
NM_000021.4(PSEN1):c.*1725A>G
|
rs886050671
|
0.00006
|
NM_000021.4(PSEN1):c.*211G>A
|
rs200186908
|
0.00006
|
NM_000021.4(PSEN1):c.*2161G>A
|
rs535590491
|
0.00006
|
NM_000021.4(PSEN1):c.*229C>T
|
rs199738569
|
0.00006
|
NM_000021.4(PSEN1):c.*2543C>T
|
rs138620990
|
0.00006
|
NM_000021.4(PSEN1):c.337C>T (p.Leu113=)
|
rs201500006
|
0.00006
|
NM_000096.3(CP):c.-199C>G
|
rs772691705
|
0.00006
|
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn)
|
rs149217680
|
0.00006
|
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_000447.3(PSEN2):c.1304G>A (p.Arg435Gln)
|
rs201922151
|
0.00006
|
NM_000447.3(PSEN2):c.639A>G (p.Ala213=)
|
rs555809980
|
0.00006
|
NM_000484.4(APP):c.-132G>T
|
rs886056998
|
0.00006
|
NM_000484.4(APP):c.1458+9C>T
|
rs201937048
|
0.00006
|
NM_000484.4(APP):c.704C>T (p.Ala235Val)
|
rs139819006
|
0.00006
|
NM_000487.6(ARSA):c.225-5C>T
|
rs192013394
|
0.00006
|
NM_000487.6(ARSA):c.918G>A (p.Thr306=)
|
rs370250328
|
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_001130823.3(DNMT1):c.*211G>C
|
rs772999851
|
0.00006
|
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr)
|
rs529074384
|
0.00006
|
NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=)
|
rs144567470
|
0.00006
|
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys)
|
rs201308454
|
0.00006
|
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=)
|
rs147755768
|
0.00006
|
NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=)
|
rs145657360
|
0.00006
|
NM_001257180.2(SLC20A2):c.*1069G>C
|
rs1010204441
|
0.00006
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=)
|
rs373515668
|
0.00006
|
NM_001386393.1(PANK2):c.624G>A (p.Ala208=)
|
rs78631398
|
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_002103.5(GYS1):c.*659C>T
|
rs367578611
|
0.00006
|
NM_002739.5(PRKCG):c.*426C>T
|
rs1002891475
|
0.00006
|
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu)
|
rs551805527
|
0.00006
|
NM_002778.4(PSAP):c.*1008C>T
|
rs537171961
|
0.00006
|
NM_002778.4(PSAP):c.*276G>A
|
rs547409137
|
0.00006
|
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)
|
rs377024801
|
0.00006
|
NM_002778.4(PSAP):c.249+6C>T
|
rs774663731
|
0.00006
|
NM_003560.4(PLA2G6):c.-129C>T
|
rs886057504
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_004960.3(FUS):c.*1014G>A
|
rs933525513
|
0.00006
|
NM_004960.3(FUS):c.*2259G>C
|
rs886051954
|
0.00006
|
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=)
|
rs139181972
|
0.00006
|
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=)
|
rs371535973
|
0.00006
|
NM_007126.5(VCP):c.*172C>G
|
rs886063890
|
0.00006
|
NM_007126.5(VCP):c.*217G>T
|
rs981870646
|
0.00006
|
NM_007126.5(VCP):c.*64C>T
|
rs553370942
|
0.00006
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00006
|
NM_014043.4(CHMP2B):c.*1516C>T
|
rs1024508536
|
0.00006
|
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)
|
rs200322526
|
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_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00006
|
NM_024411.4(PDYN):c.-358G>A
|
rs745377265
|
0.00006
|
NM_024411.5(PDYN):c.*1457C>G
|
rs529380614
|
0.00006
|
NM_024411.5(PDYN):c.*225T>C
|
rs569014510
|
0.00006
|
NM_024411.5(PDYN):c.*636G>C
|
rs993395808
|
0.00006
|
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys)
|
rs567558964
|
0.00006
|
NM_024411.5(PDYN):c.616C>T (p.Arg206Cys)
|
rs575606358
|
0.00006
|
NM_025000.4(DCAF17):c.*1531T>C
|
rs537066061
|
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_031448.6(C19orf12):c.216G>A (p.Pro72=)
|
rs202054484
|
0.00006
|
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val)
|
rs750174637
|
0.00006
|
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg)
|
rs202148808
|
0.00006
|
NM_033305.3(VPS13A):c.8212-15G>A
|
rs771085531
|
0.00006
|
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=)
|
rs201517936
|
0.00006
|
NM_173500.4(TTBK2):c.*33A>C
|
rs149561490
|
0.00006
|
NM_173500.4(TTBK2):c.*847T>C
|
rs567667407
|
0.00006
|
NM_198994.3(TGM6):c.816C>T (p.Gly272=)
|
rs368599004
|
0.00006
|
NM_000021.4(PSEN1):c.*119T>C
|
rs201908084
|
0.00005
|
NM_000021.4(PSEN1):c.*3789G>A
|
rs867100875
|
0.00005
|
NM_000021.4(PSEN1):c.*4338A>G
|
rs1032264220
|
0.00005
|
NM_000096.4(CP):c.*912C>G
|
rs149920453
|
0.00005
|
NM_000096.4(CP):c.1131C>T (p.Ala377=)
|
rs150733154
|
0.00005
|
NM_000146.4(FTL):c.*8C>T
|
rs373178636
|
0.00005
|
NM_000447.3(PSEN2):c.*132T>C
|
rs186288674
|
0.00005
|
NM_000484.4(APP):c.47G>A (p.Arg16Gln)
|
rs955517095
|
0.00005
|
NM_000484.4(APP):c.885C>T (p.Ala295=)
|
rs199890425
|
0.00005
|
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_001130823.3(DNMT1):c.1932C>T (p.Phe644=)
|
rs370444117
|
0.00005
|
NM_001130823.3(DNMT1):c.2019+15G>C
|
rs370849760
|
0.00005
|
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=)
|
rs534263445
|
0.00005
|
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His)
|
rs147118268
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=)
|
rs35343277
|
0.00005
|
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=)
|
rs545754582
|
0.00005
|
NM_001386393.1(PANK2):c.*376A>G
|
rs746515620
|
0.00005
|
NM_002087.4(GRN):c.933+15C>T
|
rs1306228988
|
0.00005
|
NM_002739.5(PRKCG):c.*184C>T
|
rs764816557
|
0.00005
|
NM_002739.5(PRKCG):c.441C>T (p.Pro147=)
|
rs764546467
|
0.00005
|
NM_002778.4(PSAP):c.*596A>G
|
rs965039324
|
0.00005
|
NM_002778.4(PSAP):c.-22G>C
|
rs569841336
|
0.00005
|
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)
|
rs749663645
|
0.00005
|
NM_002778.4(PSAP):c.380G>A (p.Arg127His)
|
rs886047151
|
0.00005
|
NM_004115.4(FGF14):c.261C>T (p.Pro87=)
|
rs757210660
|
0.00005
|
NM_004960.3(FUS):c.-118G>A
|
rs763010069
|
0.00005
|
NM_006749.4(SLC20A2):c.-415G>A
|
rs879904962
|
0.00005
|
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His)
|
rs200016211
|
0.00005
|
NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp)
|
rs148878156
|
0.00005
|
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr)
|
rs199675740
|
0.00005
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
NM_007126.4(VCP):c.-370G>A
|
rs886063895
|
0.00005
|
NM_007126.5(VCP):c.*63G>A
|
rs969638105
|
0.00005
|
NM_018325.5(C9orf72):c.*454A>G
|
rs754824201
|
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_024411.5(PDYN):c.538C>T (p.Arg180Cys)
|
rs370283678
|
0.00005
|
NM_025000.3(DCAF17):c.*3946G>A
|
rs776729717
|
0.00005
|
NM_025000.4(DCAF17):c.-232C>T
|
rs1007006126
|
0.00005
|
NM_025219.3(DNAJC5):c.*1643T>C
|
rs142546412
|
0.00005
|
NM_025219.3(DNAJC5):c.*1934T>G
|
rs768056284
|
0.00005
|
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)
|
rs544395324
|
0.00005
|
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr)
|
rs370950513
|
0.00005
|
NM_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.755-7T>C
|
rs377234046
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)
|
rs200437800
|
0.00005
|
NM_198994.3(TGM6):c.181+10C>T
|
rs780460166
|
0.00005
|
NM_198994.3(TGM6):c.883G>A (p.Val295Met)
|
rs200341133
|
0.00005
|
NM_000021.3(PSEN1):c.-214T>G
|
rs886050662
|
0.00004
|
NM_000021.4(PSEN1):c.*1415C>A
|
rs574671310
|
0.00004
|
NM_000021.4(PSEN1):c.*1889A>G
|
rs1220105113
|
0.00004
|
NM_000021.4(PSEN1):c.*2017A>T
|
rs538178628
|
0.00004
|
NM_000021.4(PSEN1):c.*2401C>T
|
rs886050676
|
0.00004
|
NM_000021.4(PSEN1):c.*3199C>T
|
rs371718090
|
0.00004
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
NM_000096.4(CP):c.2662-14T>C
|
rs189155564
|
0.00004
|
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_000447.3(PSEN2):c.*284T>A
|
rs199645229
|
0.00004
|
NM_000484.4(APP):c.*355A>G
|
rs939934369
|
0.00004
|
NM_000484.4(APP):c.1751C>G (p.Pro584Arg)
|
rs145371658
|
0.00004
|
NM_000484.4(APP):c.2138C>T (p.Ala713Val)
|
rs1800557
|
0.00004
|
NM_000484.4(APP):c.727G>A (p.Asp243Asn)
|
rs750279232
|
0.00004
|
NM_000487.6(ARSA):c.*380G>A
|
rs1249327412
|
0.00004
|
NM_000487.6(ARSA):c.-223G>T
|
rs752129372
|
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_001130823.2(DNMT1):c.-72C>T
|
rs779334757
|
0.00004
|
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala)
|
rs374027926
|
0.00004
|
NM_001130823.3(DNMT1):c.3116+11G>T
|
rs773580930
|
0.00004
|
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=)
|
rs550868730
|
0.00004
|
NM_001256054.3(C9orf72):c.-173A>G
|
rs886063848
|
0.00004
|
NM_001257180.2(SLC20A2):c.1849C>T (p.Arg617Cys)
|
rs537867998
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=)
|
rs745351516
|
0.00004
|
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=)
|
rs371661663
|
0.00004
|
NM_001378452.1(ITPR1):c.6808+8C>G
|
rs2270749
|
0.00004
|
NM_001378452.1(ITPR1):c.709-6T>C
|
rs374932152
|
0.00004
|
NM_001386393.1(PANK2):c.*534A>G
|
rs780398812
|
0.00004
|
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)
|
rs750766653
|
0.00004
|
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)
|
rs201329683
|
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.1084G>A (p.Gly362Arg)
|
rs746733183
|
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_002087.4(GRN):c.709-12G>C
|
rs771557106
|
0.00004
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
NM_002778.3(PSAP):c.-50G>T
|
rs886047154
|
0.00004
|
NM_002778.4(PSAP):c.*346C>T
|
rs951110904
|
0.00004
|
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)
|
rs571773332
|
0.00004
|
NM_003560.4(PLA2G6):c.*160T>C
|
rs886057500
|
0.00004
|
NM_003560.4(PLA2G6):c.*473C>T
|
rs886057498
|
0.00004
|
NM_003560.4(PLA2G6):c.*493C>G
|
rs188998877
|
0.00004
|
NM_003560.4(PLA2G6):c.*515C>T
|
rs1280474402
|
0.00004
|
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr)
|
rs746217497
|
0.00004
|
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)
|
rs528966598
|
0.00004
|
NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser)
|
rs780423461
|
0.00004
|
NM_004115.4(FGF14):c.*1741T>C
|
rs529644559
|
0.00004
|
NM_004115.4(FGF14):c.477C>T (p.Ser159=)
|
rs776794756
|
0.00004
|
NM_004960.3(FUS):c.*1081T>G
|
rs769920119
|
0.00004
|
NM_004960.3(FUS):c.*1883T>C
|
rs549012470
|
0.00004
|
NM_004960.3(FUS):c.*2884A>T
|
rs554281103
|
0.00004
|
NM_006749.4(SLC20A2):c.-436C>T
|
rs969584653
|
0.00004
|
NM_006796.3(AFG3L2):c.*373G>A
|
rs886053612
|
0.00004
|
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr)
|
rs758811358
|
0.00004
|
NM_006946.4(SPTBN2):c.*228dup
|
rs886048544
|
0.00004
|
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=)
|
rs374787500
|
0.00004
|
NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys)
|
rs372241839
|
0.00004
|
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=)
|
rs141779130
|
0.00004
|
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His)
|
rs145750214
|
0.00004
|
NM_006946.4(SPTBN2):c.6035-12C>T
|
rs2276137
|
0.00004
|
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp)
|
rs564046722
|
0.00004
|
NM_007126.5(VCP):c.*15C>T
|
rs762559031
|
0.00004
|
NM_007126.5(VCP):c.*438A>G
|
rs137953487
|
0.00004
|
NM_007126.5(VCP):c.1360-6T>C
|
rs370296303
|
0.00004
|
NM_007375.4(TARDBP):c.57A>G (p.Pro19=)
|
rs532319219
|
0.00004
|
NM_007375.4(TARDBP):c.720G>A (p.Ala240=)
|
rs765175133
|
0.00004
|
NM_017882.3(CLN6):c.-101A>G
|
rs555985698
|
0.00004
|
NM_017882.3(CLN6):c.259A>G (p.Met87Val)
|
rs532180601
|
0.00004
|
NM_018325.5(C9orf72):c.703G>A (p.Val235Ile)
|
rs781214485
|
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_024411.5(PDYN):c.*261C>T
|
rs886056534
|
0.00004
|
NM_024411.5(PDYN):c.*320C>T
|
rs1022899056
|
0.00004
|
NM_025000.4(DCAF17):c.*2292G>A
|
rs373833929
|
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_031448.6(C19orf12):c.*2671A>C
|
rs981370297
|
0.00004
|
NM_031448.6(C19orf12):c.*3352C>T
|
rs754929270
|
0.00004
|
NM_031448.6(C19orf12):c.177G>A (p.Gly59=)
|
rs768063881
|
0.00004
|
NM_033305.3(VPS13A):c.*665C>G
|
rs41289985
|
0.00004
|
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser)
|
rs189129300
|
0.00004
|
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val)
|
rs369818421
|
0.00004
|
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys)
|
rs141164942
|
0.00004
|
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr)
|
rs200616248
|
0.00004
|
NM_033305.3(VPS13A):c.6840T>C (p.His2280=)
|
rs750072063
|
0.00004
|
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu)
|
rs200293888
|
0.00004
|
NM_033305.3(VPS13A):c.981C>T (p.Ala327=)
|
rs368425803
|
0.00004
|
NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln)
|
rs201348630
|
0.00004
|
NM_198994.3(TGM6):c.1093+10A>G
|
rs375737445
|
0.00004
|
NM_198994.3(TGM6):c.543+7A>G
|
rs755777005
|
0.00004
|
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser)
|
rs182249285
|
0.00004
|
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)
|
rs202245813
|
0.00004
|
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser)
|
rs138323389
|
0.00004
|
NM_000021.4(PSEN1):c.*1792T>C
|
rs886050672
|
0.00003
|
NM_000021.4(PSEN1):c.*1958T>C
|
rs779158922
|
0.00003
|
NM_000021.4(PSEN1):c.*2160C>T
|
rs886050674
|
0.00003
|
NM_000021.4(PSEN1):c.*2330G>T
|
rs886050675
|
0.00003
|
NM_000021.4(PSEN1):c.*2836C>T
|
rs886050678
|
0.00003
|
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
|
rs199715992
|
0.00003
|
NM_000021.4(PSEN1):c.21G>A (p.Pro7=)
|
rs116466962
|
0.00003
|
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
|
rs782236148
|
0.00003
|
NM_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
0.00003
|
NM_000146.4(FTL):c.73C>T (p.Leu25=)
|
rs201971200
|
0.00003
|
NM_000391.4(TPP1):c.*44T>A
|
rs370517226
|
0.00003
|
NM_000447.3(PSEN2):c.1308G>A (p.Pro436=)
|
rs199547508
|
0.00003
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
NM_000484.4(APP):c.*663C>T
|
rs572356515
|
0.00003
|
NM_000484.4(APP):c.1458+10G>A
|
rs201290605
|
0.00003
|
NM_000487.6(ARSA):c.*293C>T
|
rs886057654
|
0.00003
|
NM_000487.6(ARSA):c.*479C>G
|
rs565093599
|
0.00003
|
NM_000487.6(ARSA):c.-355G>T
|
rs886057661
|
0.00003
|
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser)
|
rs377717242
|
0.00003
|
NM_000487.6(ARSA):c.225-4G>A
|
rs372937480
|
0.00003
|
NM_000487.6(ARSA):c.369C>T (p.Ala123=)
|
rs886057657
|
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_001130823.3(DNMT1):c.-26C>T
|
rs745759875
|
0.00003
|
NM_001130823.3(DNMT1):c.3117-4G>A
|
rs781402268
|
0.00003
|
NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys)
|
rs891770194
|
0.00003
|
NM_001257180.2(SLC20A2):c.*124G>T
|
rs948433091
|
0.00003
|
NM_001257180.2(SLC20A2):c.*289A>C
|
rs892436898
|
0.00003
|
NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=)
|
rs761069656
|
0.00003
|
NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=)
|
rs116687117
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=)
|
rs886058616
|
0.00003
|
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn)
|
rs773864227
|
0.00003
|
NM_001378452.1(ITPR1):c.625-14A>T
|
rs368114873
|
0.00003
|
NM_001909.5(CTSD):c.*654C>T
|
rs148490566
|
0.00003
|
NM_001909.5(CTSD):c.-37G>A
|
rs756112449
|
0.00003
|
NM_002087.4(GRN):c.57G>T (p.Arg19=)
|
rs1426790644
|
0.00003
|
NM_002103.5(GYS1):c.*611C>T
|
rs370792196
|
0.00003
|
NM_002739.5(PRKCG):c.*481T>C
|
rs886054616
|
0.00003
|
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=)
|
rs556667568
|
0.00003
|
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu)
|
rs1360248213
|
0.00003
|
NM_002778.4(PSAP):c.*787C>T
|
rs932052243
|
0.00003
|
NM_002778.4(PSAP):c.*9A>G
|
rs376628499
|
0.00003
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)
|
rs886047150
|
0.00003
|
NM_003560.4(PLA2G6):c.*620G>A
|
rs948625014
|
0.00003
|
NM_003560.4(PLA2G6):c.-31C>T
|
rs376270953
|
0.00003
|
NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys)
|
rs777548266
|
0.00003
|
NM_003560.4(PLA2G6):c.895-5C>T
|
rs372128546
|
0.00003
|
NM_004115.4(FGF14):c.*777C>A
|
rs886049936
|
0.00003
|
NM_004960.3(FUS):c.*1580A>G
|
rs886051946
|
0.00003
|
NM_004960.3(FUS):c.*1601C>T
|
rs886051947
|
0.00003
|
NM_004960.3(FUS):c.*1614T>G
|
rs750030096
|
0.00003
|
NM_004960.3(FUS):c.*1650C>T
|
rs886051948
|
0.00003
|
NM_004960.3(FUS):c.*1942G>A
|
rs886051953
|
0.00003
|
NM_004960.3(FUS):c.*196C>T
|
rs886051938
|
0.00003
|
NM_004960.3(FUS):c.*852A>G
|
rs766638312
|
0.00003
|
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser)
|
rs201533156
|
0.00003
|
NM_004960.4(FUS):c.452C>T (p.Pro151Leu)
|
rs144342946
|
0.00003
|
NM_006796.3(AFG3L2):c.1426+9A>T
|
rs377339236
|
0.00003
|
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp)
|
rs768999765
|
0.00003
|
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=)
|
rs774265056
|
0.00003
|
NM_007126.5(VCP):c.384T>C (p.Gly128=)
|
rs367703031
|
0.00003
|
NM_007375.3(TARDBP):c.-117G>A
|
rs886045031
|
0.00003
|
NM_007375.3(TARDBP):c.-126G>T
|
rs886045030
|
0.00003
|
NM_007375.4(TARDBP):c.*129T>C
|
rs886045036
|
0.00003
|
NM_007375.4(TARDBP):c.*2123T>C
|
rs1464055996
|
0.00003
|
NM_007375.4(TARDBP):c.*2749T>C
|
rs1028236461
|
0.00003
|
NM_007375.4(TARDBP):c.*306C>T
|
rs1034083151
|
0.00003
|
NM_007375.4(TARDBP):c.*73G>C
|
rs185638796
|
0.00003
|
NM_007375.4(TARDBP):c.*963C>T
|
rs751628760
|
0.00003
|
NM_014043.4(CHMP2B):c.*1071A>G
|
rs544589377
|
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_018325.5(C9orf72):c.-8A>G
|
rs548524458
|
0.00003
|
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro)
|
rs200703028
|
0.00003
|
NM_018325.5(C9orf72):c.573A>G (p.Lys191=)
|
rs775042273
|
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_024411.4(PDYN):c.-286G>C
|
rs886056538
|
0.00003
|
NM_024411.5(PDYN):c.*1157T>G
|
rs745852761
|
0.00003
|
NM_024411.5(PDYN):c.*561C>T
|
rs886056531
|
0.00003
|
NM_024411.5(PDYN):c.*847T>C
|
rs371550256
|
0.00003
|
NM_024411.5(PDYN):c.-19-1G>C
|
rs769835663
|
0.00003
|
NM_025000.4(DCAF17):c.*3705A>G
|
rs577520268
|
0.00003
|
NM_025000.4(DCAF17):c.214C>T (p.Arg72Trp)
|
rs886055106
|
0.00003
|
NM_025219.3(DNAJC5):c.*1391G>A
|
rs886056944
|
0.00003
|
NM_025219.3(DNAJC5):c.-185G>T
|
rs886056928
|
0.00003
|
NM_031448.6(C19orf12):c.*2384C>T
|
rs887855599
|
0.00003
|
NM_031448.6(C19orf12):c.*2621C>T
|
rs183432713
|
0.00003
|
NM_031448.6(C19orf12):c.*3337G>A
|
rs868247639
|
0.00003
|
NM_031448.6(C19orf12):c.*3357G>A
|
rs753828295
|
0.00003
|
NM_031448.6(C19orf12):c.*718G>T
|
rs770252476
|
0.00003
|
NM_031448.6(C19orf12):c.-11+120T>C
|
rs886054326
|
0.00003
|
NM_031448.6(C19orf12):c.-11+178C>T
|
rs948285503
|
0.00003
|
NM_031448.6(C19orf12):c.-2C>T
|
rs397514477
|
0.00003
|
NM_033305.3(VPS13A):c.*182G>A
|
rs983693743
|
0.00003
|
NM_033305.3(VPS13A):c.-150C>T
|
rs560445300
|
0.00003
|
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala)
|
rs564878665
|
0.00003
|
NM_033305.3(VPS13A):c.2667+4G>A
|
rs748465954
|
0.00003
|
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr)
|
rs1437731472
|
0.00003
|
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro)
|
rs757415947
|
0.00003
|
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu)
|
rs772689261
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln)
|
rs201208791
|
0.00003
|
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys)
|
rs772152953
|
0.00003
|
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=)
|
rs368161466
|
0.00003
|
NM_033305.3(VPS13A):c.9077+8C>G
|
rs1325690140
|
0.00003
|
NM_173500.4(TTBK2):c.*598G>A
|
rs774535951
|
0.00003
|
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)
|
rs117382379
|
0.00003
|
NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys)
|
rs767399781
|
0.00003
|
NM_173500.4(TTBK2):c.2295G>T (p.Leu765=)
|
rs751381521
|
0.00003
|
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)
|
rs576737530
|
0.00003
|
NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn)
|
rs200469913
|
0.00003
|
NM_198994.3(TGM6):c.1089T>C (p.Ser363=)
|
rs762242728
|
0.00003
|
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu)
|
rs148696208
|
0.00003
|
NM_000021.4(PSEN1):c.*1360G>C
|
rs886050667
|
0.00002
|
NM_000033.4(ABCD1):c.*450T>A
|
rs1479983733
|
0.00002
|
NM_000033.4(ABCD1):c.-10C>T
|
rs782754717
|
0.00002
|
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)
|
rs74315281
|
0.00002
|
NM_000096.4(CP):c.164A>G (p.Tyr55Cys)
|
rs756029950
|
0.00002
|
NM_000096.4(CP):c.1907T>C (p.Met636Thr)
|
rs776909143
|
0.00002
|
NM_000096.4(CP):c.199T>C (p.Tyr67His)
|
rs201599525
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
0.00002
|
NM_000096.4(CP):c.259C>T (p.Pro87Ser)
|
rs749061188
|
0.00002
|
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)
|
rs749381794
|
0.00002
|
NM_000096.4(CP):c.936C>T (p.Asp312=)
|
rs373073229
|
0.00002
|
NM_000146.4(FTL):c.-46C>A
|
rs768457741
|
0.00002
|
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_000447.3(PSEN2):c.222C>G (p.Gly74=)
|
rs773522773
|
0.00002
|
NM_000484.4(APP):c.*1015T>G
|
rs202108412
|
0.00002
|
NM_000484.4(APP):c.1957C>A (p.Arg653=)
|
rs370979414
|
0.00002
|
NM_000484.4(APP):c.574G>A (p.Glu192Lys)
|
rs759517529
|
0.00002
|
NM_000484.4(APP):c.674T>C (p.Val225Ala)
|
rs746313873
|
0.00002
|
NM_000487.6(ARSA):c.*1714G>A
|
rs183937648
|
0.00002
|
NM_000487.6(ARSA):c.*466C>T
|
rs1181265537
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
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_001130823.3(DNMT1):c.1149T>C (p.Tyr383=)
|
rs766807027
|
0.00002
|
NM_001130823.3(DNMT1):c.4554C>T (p.His1518=)
|
rs753248212
|
0.00002
|
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=)
|
rs750916721
|
0.00002
|
NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp)
|
rs1268071663
|
0.00002
|
NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=)
|
rs199804961
|
0.00002
|
NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=)
|
rs771290596
|
0.00002
|
NM_001376.5(DYNC1H1):c.*108G>A
|
rs886050378
|
0.00002
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609
|
0.00002
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
rs201971718
|
0.00002
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694
|
0.00002
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00002
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
|
rs1412108587
|
0.00002
|
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
|
rs1422291997
|
0.00002
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296
|
0.00002
|
NM_001378452.1(ITPR1):c.-244G>A
|
rs577585180
|
0.00002
|
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=)
|
rs886058613
|
0.00002
|
NM_001378452.1(ITPR1):c.1714-12C>T
|
rs765853714
|
0.00002
|
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)
|
rs563347395
|
0.00002
|
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=)
|
rs748274420
|
0.00002
|
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala)
|
rs773251870
|
0.00002
|
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val)
|
rs773701050
|
0.00002
|
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=)
|
rs886058618
|
0.00002
|
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=)
|
rs765524918
|
0.00002
|
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=)
|
rs748401794
|
0.00002
|
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met)
|
rs767779223
|
0.00002
|
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val)
|
rs201934670
|
0.00002
|
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)
|
rs143090515
|
0.00002
|
NM_001909.5(CTSD):c.*356C>G
|
rs886048062
|
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.835+14G>C
|
rs753286440
|
0.00002
|
NM_002222.6(ITPR1):c.*1311G>A
|
rs772889585
|
0.00002
|
NM_002739.5(PRKCG):c.-233C>T
|
rs752173466
|
0.00002
|
NM_002739.5(PRKCG):c.529+11G>T
|
rs886054612
|
0.00002
|
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)
|
rs535525554
|
0.00002
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)
|
rs1428436713
|
0.00002
|
NM_003560.4(PLA2G6):c.-15C>T
|
rs758224555
|
0.00002
|
NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn)
|
rs764199136
|
0.00002
|
NM_003560.4(PLA2G6):c.1348+10G>A
|
rs761202760
|
0.00002
|
NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser)
|
rs772131195
|
0.00002
|
NM_003560.4(PLA2G6):c.1648C>T (p.Arg550Trp)
|
rs886057502
|
0.00002
|
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)
|
rs11570607
|
0.00002
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
NM_004115.4(FGF14):c.*1296A>C
|
rs540292614
|
0.00002
|
NM_004115.4(FGF14):c.651G>A (p.Thr217=)
|
rs151325645
|
0.00002
|
NM_004960.3(FUS):c.*1067G>C
|
rs1170967009
|
0.00002
|
NM_004960.3(FUS):c.*1225C>T
|
rs1183381896
|
0.00002
|
NM_004960.3(FUS):c.*1587G>A
|
rs1446005747
|
0.00002
|
NM_004960.3(FUS):c.*1593C>T
|
rs577955571
|
0.00002
|
NM_004960.3(FUS):c.*2288C>T
|
rs1418881668
|
0.00002
|
NM_004960.3(FUS):c.*3174T>G
|
rs3764324
|
0.00002
|
NM_004960.3(FUS):c.*3226G>A
|
rs1004430396
|
0.00002
|
NM_004960.3(FUS):c.*356G>A
|
rs886051940
|
0.00002
|
NM_004960.4(FUS):c.*10C>T
|
rs529269129
|
0.00002
|
NM_004960.4(FUS):c.443G>C (p.Ser148Thr)
|
rs773655049
|
0.00002
|
NM_006796.3(AFG3L2):c.-56C>A
|
rs886053619
|
0.00002
|
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=)
|
rs540897209
|
0.00002
|
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr)
|
rs765561071
|
0.00002
|
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu)
|
rs376249009
|
0.00002
|
NM_007126.5(VCP):c.2214A>G (p.Glu738=)
|
rs374391034
|
0.00002
|
NM_007126.5(VCP):c.812-7C>G
|
rs764429197
|
0.00002
|
NM_007375.4(TARDBP):c.*1795A>G
|
rs886045044
|
0.00002
|
NM_007375.4(TARDBP):c.*2334G>A
|
rs182302907
|
0.00002
|
NM_007375.4(TARDBP):c.*954A>G
|
rs1295153637
|
0.00002
|
NM_007375.4(TARDBP):c.238+9C>T
|
rs376560308
|
0.00002
|
NM_007375.4(TARDBP):c.963C>T (p.Ala321=)
|
rs547979470
|
0.00002
|
NM_014043.4(CHMP2B):c.*1422G>A
|
rs572323799
|
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_018325.5(C9orf72):c.*673T>C
|
rs886063835
|
0.00002
|
NM_018325.5(C9orf72):c.1210G>T (p.Val404Phe)
|
rs541965231
|
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_024411.5(PDYN):c.*827A>G
|
rs886056530
|
0.00002
|
NM_024411.5(PDYN):c.456C>T (p.Asn152=)
|
rs148113209
|
0.00002
|
NM_024411.5(PDYN):c.724G>A (p.Glu242Lys)
|
rs1181111571
|
0.00002
|
NM_025000.4(DCAF17):c.*1120A>T
|
rs1281715681
|
0.00002
|
NM_025000.4(DCAF17):c.*211C>A
|
rs974336214
|
0.00002
|
NM_025000.4(DCAF17):c.*2202A>G
|
rs886055114
|
0.00002
|
NM_025000.4(DCAF17):c.230+15A>G
|
rs778241115
|
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_031448.6(C19orf12):c.*1158C>T
|
rs533617895
|
0.00002
|
NM_031448.6(C19orf12):c.*1159C>T
|
rs150649006
|
0.00002
|
NM_031448.6(C19orf12):c.*1840G>T
|
rs1045611042
|
0.00002
|
NM_031448.6(C19orf12):c.*2692C>T
|
rs569552156
|
0.00002
|
NM_031448.6(C19orf12):c.*3272C>T
|
rs1455514664
|
0.00002
|
NM_031448.6(C19orf12):c.*944A>G
|
rs549030034
|
0.00002
|
NM_033305.3(VPS13A):c.*1095A>G
|
rs956751748
|
0.00002
|
NM_033305.3(VPS13A):c.*481G>A
|
rs1057515664
|
0.00002
|
NM_033305.3(VPS13A):c.*503C>A
|
rs1057515665
|
0.00002
|
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=)
|
rs777234852
|
0.00002
|
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val)
|
rs770035274
|
0.00002
|
NM_033305.3(VPS13A):c.6379-12T>G
|
rs865850464
|
0.00002
|
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn)
|
rs780035378
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser)
|
rs750460516
|
0.00002
|
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val)
|
rs892450419
|
0.00002
|
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro)
|
rs758989403
|
0.00002
|
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=)
|
rs755095881
|
0.00002
|
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala)
|
rs368916151
|
0.00002
|
NM_173500.4(TTBK2):c.-282A>C
|
rs949605219
|
0.00002
|
NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly)
|
rs202004988
|
0.00002
|
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp)
|
rs373828657
|
0.00002
|
NM_198994.3(TGM6):c.*97T>A
|
rs1351166866
|
0.00002
|
NM_198994.3(TGM6):c.717G>A (p.Gln239=)
|
rs201506281
|
0.00002
|
NM_198994.3(TGM6):c.850+4C>T
|
rs765181893
|
0.00002
|
NM_000021.4(PSEN1):c.*1626C>A
|
rs886050669
|
0.00001
|
NM_000021.4(PSEN1):c.*2357T>A
|
rs1250635285
|
0.00001
|
NM_000021.4(PSEN1):c.*23T>C
|
rs886050664
|
0.00001
|
NM_000021.4(PSEN1):c.*3619A>G
|
rs886050681
|
0.00001
|
NM_000021.4(PSEN1):c.*3669G>A
|
rs748848893
|
0.00001
|
NM_000021.4(PSEN1):c.*4339T>C
|
rs757221245
|
0.00001
|
NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=)
|
rs1899950667
|
0.00001
|
NM_000021.4(PSEN1):c.784T>C (p.Leu262=)
|
rs1369926746
|
0.00001
|
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys)
|
rs886050663
|
0.00001
|
NM_000021.4(PSEN1):c.80G>A (p.Arg27His)
|
rs149562759
|
0.00001
|
NM_000033.4(ABCD1):c.*287G>A
|
rs1169661425
|
0.00001
|
NM_000033.4(ABCD1):c.*360C>T
|
rs1281220823
|
0.00001
|
NM_000033.4(ABCD1):c.*530G>A
|
rs67211405
|
0.00001
|
NM_000033.4(ABCD1):c.*621C>T
|
rs1383766741
|
0.00001
|
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu)
|
rs782726660
|
0.00001
|
NM_000096.4(CP):c.*343A>G
|
rs886058085
|
0.00001
|
NM_000096.4(CP):c.1037-3C>A
|
rs754289834
|
0.00001
|
NM_000096.4(CP):c.125A>G (p.Lys42Arg)
|
rs886058090
|
0.00001
|
NM_000096.4(CP):c.1309A>G (p.Lys437Glu)
|
rs764238637
|
0.00001
|
NM_000096.4(CP):c.1379C>T (p.Thr460Ile)
|
rs370863732
|
0.00001
|
NM_000096.4(CP):c.1380C>T (p.Thr460=)
|
rs149790356
|
0.00001
|
NM_000096.4(CP):c.1478C>T (p.Pro493Leu)
|
rs1391447500
|
0.00001
|
NM_000096.4(CP):c.1713+3A>G
|
rs372361874
|
0.00001
|
NM_000096.4(CP):c.2180T>C (p.Phe727Ser)
|
rs886058087
|
0.00001
|
NM_000096.4(CP):c.2266C>A (p.His756Asn)
|
rs773420516
|
0.00001
|
NM_000096.4(CP):c.2611G>A (p.Asp871Asn)
|
rs529607771
|
0.00001
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
0.00001
|
NM_000146.4(FTL):c.*131A>T
|
rs374919004
|
0.00001
|
NM_000146.4(FTL):c.-86C>T
|
rs1319264120
|
0.00001
|
NM_000146.4(FTL):c.-92T>C
|
rs886054563
|
0.00001
|
NM_000146.4(FTL):c.362G>A (p.Arg121His)
|
rs769449169
|
0.00001
|
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_000447.3(PSEN2):c.*210G>A
|
rs200296479
|
0.00001
|
NM_000447.3(PSEN2):c.*72T>C
|
rs886046062
|
0.00001
|
NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met)
|
rs756609078
|
0.00001
|
NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser)
|
rs749301595
|
0.00001
|
NM_000447.3(PSEN2):c.711G>A (p.Ala237=)
|
rs202003390
|
0.00001
|
NM_000447.3(PSEN2):c.927C>T (p.Pro309=)
|
rs200326485
|
0.00001
|
NM_000484.4(APP):c.*289C>T
|
rs199534609
|
0.00001
|
NM_000484.4(APP):c.*356T>G
|
rs1445554583
|
0.00001
|
NM_000484.4(APP):c.1008C>T (p.Tyr336=)
|
rs772676633
|
0.00001
|
NM_000484.4(APP):c.1224+12T>C
|
rs200725014
|
0.00001
|
NM_000484.4(APP):c.126C>T (p.Asn42=)
|
rs745974049
|
0.00001
|
NM_000484.4(APP):c.1380A>G (p.Arg460=)
|
rs745834578
|
0.00001
|
NM_000484.4(APP):c.1789T>G (p.Leu597Val)
|
rs773379255
|
0.00001
|
NM_000484.4(APP):c.2064+10A>T
|
rs202051599
|
0.00001
|
NM_000484.4(APP):c.237A>G (p.Glu79=)
|
rs886056996
|
0.00001
|
NM_000484.4(APP):c.618G>A (p.Ser206=)
|
rs201022619
|
0.00001
|
NM_000487.6(ARSA):c.*10G>A
|
rs772710219
|
0.00001
|
NM_000487.6(ARSA):c.*1476G>A
|
rs8142531
|
0.00001
|
NM_000487.6(ARSA):c.*1629A>C
|
rs886057644
|
0.00001
|
NM_000487.6(ARSA):c.*1712C>T
|
rs1330240384
|
0.00001
|
NM_000487.6(ARSA):c.1211-15T>C
|
rs374150980
|
0.00001
|
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe)
|
rs886057658
|
0.00001
|
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)
|
rs74315464
|
0.00001
|
NM_000487.6(ARSA):c.663C>T (p.Phe221=)
|
rs754484249
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
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_001130823.3(DNMT1):c.1842G>A (p.Gln614=)
|
rs756623224
|
0.00001
|
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile)
|
rs762172122
|
0.00001
|
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met)
|
rs376854079
|
0.00001
|
NM_001130823.3(DNMT1):c.3117-8G>A
|
rs769623856
|
0.00001
|
NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser)
|
rs755865204
|
0.00001
|
NM_001130823.3(DNMT1):c.3394+7C>T
|
rs886054128
|
0.00001
|
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=)
|
rs761140414
|
0.00001
|
NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=)
|
rs746163207
|
0.00001
|
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)
|
rs757460628
|
0.00001
|
NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=)
|
rs2089536795
|
0.00001
|
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=)
|
rs779701784
|
0.00001
|
NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe)
|
rs886054127
|
0.00001
|
NM_001130823.3(DNMT1):c.4657-15G>A
|
rs201805582
|
0.00001
|
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=)
|
rs576877219
|
0.00001
|
NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg)
|
rs886054129
|
0.00001
|
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln)
|
rs1020363356
|
0.00001
|
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=)
|
rs760733624
|
0.00001
|
NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser)
|
rs761747950
|
0.00001
|
NM_001256054.3(C9orf72):c.-47G>A
|
rs886063846
|
0.00001
|
NM_001257180.2(SLC20A2):c.*539G>A
|
rs1404962993
|
0.00001
|
NM_001257180.2(SLC20A2):c.*925G>T
|
rs1466633393
|
0.00001
|
NM_001257180.2(SLC20A2):c.-264-4A>G
|
rs1030242859
|
0.00001
|
NM_001257180.2(SLC20A2):c.1197C>T (p.His399=)
|
rs767994782
|
0.00001
|
NM_001257180.2(SLC20A2):c.1377G>T (p.Glu459Asp)
|
rs144428935
|
0.00001
|
NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val)
|
rs748282424
|
0.00001
|
NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr)
|
rs140978915
|
0.00001
|
NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=)
|
rs1212922301
|
0.00001
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
rs1376784009
|
0.00001
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200
|
0.00001
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289
|
0.00001
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182
|
0.00001
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090
|
0.00001
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
rs549582489
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
NM_001378452.1(ITPR1):c.*1061T>G
|
rs886058652
|
0.00001
|
NM_001378452.1(ITPR1):c.*740T>C
|
rs886058650
|
0.00001
|
NM_001378452.1(ITPR1):c.*816C>T
|
rs775011992
|
0.00001
|
NM_001378452.1(ITPR1):c.-158C>G
|
rs886058523
|
0.00001
|
NM_001378452.1(ITPR1):c.-342C>T
|
rs886058522
|
0.00001
|
NM_001378452.1(ITPR1):c.-63C>T
|
rs889404498
|
0.00001
|
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=)
|
rs760762106
|
0.00001
|
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=)
|
rs778521012
|
0.00001
|
NM_001378452.1(ITPR1):c.2006+13C>A
|
rs1181863539
|
0.00001
|
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=)
|
rs779948053
|
0.00001
|
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile)
|
rs543514234
|
0.00001
|
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=)
|
rs764301997
|
0.00001
|
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile)
|
rs370220353
|
0.00001
|
NM_001378452.1(ITPR1):c.3162-9C>T
|
rs1159582623
|
0.00001
|
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=)
|
rs766131451
|
0.00001
|
NM_001378452.1(ITPR1):c.3327+10G>T
|
rs757492529
|
0.00001
|
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=)
|
rs764767201
|
0.00001
|
NM_001378452.1(ITPR1):c.3564+9C>T
|
rs564799796
|
0.00001
|
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=)
|
rs540908870
|
0.00001
|
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=)
|
rs886058578
|
0.00001
|
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=)
|
rs2094755597
|
0.00001
|
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=)
|
rs1396361560
|
0.00001
|
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg)
|
rs886058619
|
0.00001
|
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=)
|
rs754434409
|
0.00001
|
NM_001378452.1(ITPR1):c.7701+3A>G
|
rs533303665
|
0.00001
|
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=)
|
rs886058580
|
0.00001
|
NM_001386393.1(PANK2):c.*391C>G
|
rs1273989006
|
0.00001
|
NM_001386393.1(PANK2):c.*407A>G
|
rs886056654
|
0.00001
|
NM_001386393.1(PANK2):c.-10G>A
|
rs771710781
|
0.00001
|
NM_001386393.1(PANK2):c.258C>G (p.Val86=)
|
rs746054643
|
0.00001
|
NM_001386393.1(PANK2):c.298+10C>T
|
rs755815669
|
0.00001
|
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)
|
rs930563925
|
0.00001
|
NM_001386393.1(PANK2):c.66C>T (p.Pro22=)
|
rs754198411
|
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_002087.3(GRN):c.-173C>T
|
rs886053004
|
0.00001
|
NM_002087.3(GRN):c.-179G>C
|
rs886053003
|
0.00001
|
NM_002087.4(GRN):c.*12G>T
|
rs775440171
|
0.00001
|
NM_002087.4(GRN):c.*273C>T
|
rs971394484
|
0.00001
|
NM_002087.4(GRN):c.*30G>A
|
rs374114836
|
0.00001
|
NM_002087.4(GRN):c.1019A>T (p.His340Leu)
|
rs775196555
|
0.00001
|
NM_002087.4(GRN):c.1180-8C>T
|
rs774308165
|
0.00001
|
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)
|
rs751072702
|
0.00001
|
NM_002087.4(GRN):c.1521C>T (p.Phe507=)
|
rs140070738
|
0.00001
|
NM_002222.6(ITPR1):c.*1481delG
|
rs886058656
|
0.00001
|
NM_002739.5(PRKCG):c.*360G>C
|
rs886054614
|
0.00001
|
NM_002739.5(PRKCG):c.*415G>C
|
rs2068821858
|
0.00001
|
NM_002739.5(PRKCG):c.*48G>A
|
rs775600229
|
0.00001
|
NM_002739.5(PRKCG):c.-169G>C
|
rs777064041
|
0.00001
|
NM_002739.5(PRKCG):c.1282-14G>A
|
rs1017029385
|
0.00001
|
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)
|
rs1303074743
|
0.00001
|
NM_002739.5(PRKCG):c.1906-10T>C
|
rs575700585
|
0.00001
|
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=)
|
rs753906154
|
0.00001
|
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile)
|
rs751824637
|
0.00001
|
NM_002739.5(PRKCG):c.520C>G (p.His174Asp)
|
rs777612378
|
0.00001
|
NM_002739.5(PRKCG):c.637C>A (p.Arg213=)
|
rs750289253
|
0.00001
|
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys)
|
rs771732555
|
0.00001
|
NM_002778.4(PSAP):c.*238G>C
|
rs1174797357
|
0.00001
|
NM_002778.4(PSAP):c.*90C>T
|
rs1348415797
|
0.00001
|
NM_002778.4(PSAP):c.*935A>G
|
rs886047148
|
0.00001
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
NM_003560.2(PLA2G6):c.*676T>C
|
rs1175205623
|
0.00001
|
NM_003560.4(PLA2G6):c.*35C>T
|
rs532364258
|
0.00001
|
NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn)
|
rs375874092
|
0.00001
|
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)
|
rs886057503
|
0.00001
|
NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val)
|
rs748730147
|
0.00001
|
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)
|
rs587784339
|
0.00001
|
NM_003560.4(PLA2G6):c.1945C>T (p.Arg649Cys)
|
rs746432450
|
0.00001
|
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)
|
rs561645994
|
0.00001
|
NM_003560.4(PLA2G6):c.67C>T (p.Arg23Trp)
|
rs769876649
|
0.00001
|
NM_004115.4(FGF14):c.*1071C>T
|
rs886049933
|
0.00001
|
NM_004115.4(FGF14):c.*1072G>A
|
rs886049932
|
0.00001
|
NM_004115.4(FGF14):c.*361C>T
|
rs1159330973
|
0.00001
|
NM_004115.4(FGF14):c.608-10C>T
|
rs574476283
|
0.00001
|
NM_004115.4(FGF14):c.620G>A (p.Arg207Gln)
|
rs760595879
|
0.00001
|
NM_004960.3(FUS):c.*1183C>T
|
rs1287894101
|
0.00001
|
NM_004960.3(FUS):c.*1273C>T
|
rs371771617
|
0.00001
|
NM_004960.3(FUS):c.*1409C>T
|
rs537114134
|
0.00001
|
NM_004960.3(FUS):c.*1810C>A
|
rs886051950
|
0.00001
|
NM_004960.3(FUS):c.*1851G>A
|
rs1262725950
|
0.00001
|
NM_004960.3(FUS):c.*1908C>T
|
rs886051952
|
0.00001
|
NM_004960.3(FUS):c.*1916A>G
|
rs759332004
|
0.00001
|
NM_004960.3(FUS):c.*2114T>C
|
rs968946643
|
0.00001
|
NM_004960.3(FUS):c.*2145G>T
|
rs889675456
|
0.00001
|
NM_004960.3(FUS):c.*2348G>A
|
rs775218493
|
0.00001
|
NM_004960.3(FUS):c.*270A>G
|
rs886051939
|
0.00001
|
NM_004960.3(FUS):c.*282G>A
|
rs928323867
|
0.00001
|
NM_004960.3(FUS):c.*2967C>G
|
rs1295852228
|
0.00001
|
NM_004960.3(FUS):c.*3185A>G
|
rs1406314738
|
0.00001
|
NM_004960.3(FUS):c.*457A>G
|
rs184638686
|
0.00001
|
NM_004960.3(FUS):c.*926T>G
|
rs886051943
|
0.00001
|
NM_004960.4(FUS):c.-51C>T
|
rs571696003
|
0.00001
|
NM_004960.4(FUS):c.1168+6G>C
|
rs750980752
|
0.00001
|
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter)
|
rs387906627
|
0.00001
|
NM_004960.4(FUS):c.192A>G (p.Thr64=)
|
rs776333956
|
0.00001
|
NM_004960.4(FUS):c.39-12C>T
|
rs1162920137
|
0.00001
|
NM_004960.4(FUS):c.403A>G (p.Ser135Gly)
|
rs886051934
|
0.00001
|
NM_004960.4(FUS):c.802C>G (p.Pro268Ala)
|
rs1159514550
|
0.00001
|
NM_004960.4(FUS):c.951G>A (p.Thr317=)
|
rs771216742
|
0.00001
|
NM_006749.4(SLC20A2):c.-457G>T
|
rs1206770675
|
0.00001
|
NM_006749.4(SLC20A2):c.-568C>A
|
rs1003849503
|
0.00001
|
NM_006749.5(SLC20A2):c.-279C>T
|
rs1813220345
|
0.00001
|
NM_006749.5(SLC20A2):c.-366T>G
|
rs1335860382
|
0.00001
|
NM_006796.3(AFG3L2):c.*585A>C
|
rs886053611
|
0.00001
|
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=)
|
rs747246135
|
0.00001
|
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His)
|
rs1263405472
|
0.00001
|
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)
|
rs551015841
|
0.00001
|
NM_006796.3(AFG3L2):c.215-5A>C
|
rs371046479
|
0.00001
|
NM_006796.3(AFG3L2):c.2175+14G>A
|
rs758755215
|
0.00001
|
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp)
|
rs886053614
|
0.00001
|
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=)
|
rs1308467906
|
0.00001
|
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile)
|
rs915684170
|
0.00001
|
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=)
|
rs770555771
|
0.00001
|
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)
|
rs145702618
|
0.00001
|
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=)
|
rs758091474
|
0.00001
|
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=)
|
rs768932281
|
0.00001
|
NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=)
|
rs886048550
|
0.00001
|
NM_006946.4(SPTBN2):c.4279-8G>A
|
rs369614446
|
0.00001
|
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys)
|
rs368125962
|
0.00001
|
NM_006946.4(SPTBN2):c.5248C>A (p.Arg1750Ser)
|
rs886048548
|
0.00001
|
NM_006946.4(SPTBN2):c.54G>A (p.Gln18=)
|
rs377573278
|
0.00001
|
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=)
|
rs749188722
|
0.00001
|
NM_006946.4(SPTBN2):c.6374+15G>A
|
rs777633339
|
0.00001
|
NM_006946.4(SPTBN2):c.6502-9C>T
|
rs545190212
|
0.00001
|
NM_006946.4(SPTBN2):c.657-7C>G
|
rs758925003
|
0.00001
|
NM_006946.4(SPTBN2):c.6723-11G>A
|
rs758435668
|
0.00001
|
NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg)
|
rs201670045
|
0.00001
|
NM_006946.4(SPTBN2):c.6897-4A>G
|
rs1262014282
|
0.00001
|
NM_007126.5(VCP):c.*184G>A
|
rs886063889
|
0.00001
|
NM_007126.5(VCP):c.*885G>A
|
rs925146670
|
0.00001
|
NM_007126.5(VCP):c.335A>G (p.Lys112Arg)
|
rs766787045
|
0.00001
|
NM_007126.5(VCP):c.446-4G>A
|
rs370700002
|
0.00001
|
NM_007126.5(VCP):c.697A>G (p.Ile233Val)
|
rs750335399
|
0.00001
|
NM_007375.4(TARDBP):c.*2046T>G
|
rs886045047
|
0.00001
|
NM_007375.4(TARDBP):c.*2252A>G
|
rs552057039
|
0.00001
|
NM_007375.4(TARDBP):c.*2750G>A
|
rs779882516
|
0.00001
|
NM_007375.4(TARDBP):c.*551C>G
|
rs750948407
|
0.00001
|
NM_007375.4(TARDBP):c.*556G>A
|
rs776417983
|
0.00001
|
NM_007375.4(TARDBP):c.*591G>A
|
rs759396520
|
0.00001
|
NM_007375.4(TARDBP):c.499A>G (p.Met167Val)
|
rs886045035
|
0.00001
|
NM_014043.4(CHMP2B):c.*1482T>A
|
rs910263560
|
0.00001
|
NM_014043.4(CHMP2B):c.*1641A>C
|
rs886058912
|
0.00001
|
NM_014043.4(CHMP2B):c.*901T>C
|
rs1014335812
|
0.00001
|
NM_014043.4(CHMP2B):c.-144C>T
|
rs1441064038
|
0.00001
|
NM_014043.4(CHMP2B):c.-205C>T
|
rs556556377
|
0.00001
|
NM_014043.4(CHMP2B):c.-34G>A
|
rs199854996
|
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_018325.5(C9orf72):c.*224C>G
|
rs1333786274
|
0.00001
|
NM_018325.5(C9orf72):c.*250T>C
|
rs886063840
|
0.00001
|
NM_018325.5(C9orf72):c.*552A>C
|
rs886063837
|
0.00001
|
NM_018325.5(C9orf72):c.*651G>T
|
rs548883941
|
0.00001
|
NM_018325.5(C9orf72):c.*73G>A
|
rs886063841
|
0.00001
|
NM_018325.5(C9orf72):c.1002C>T (p.Ser334=)
|
rs780494226
|
0.00001
|
NM_018325.5(C9orf72):c.1259+8A>C
|
rs182259442
|
0.00001
|
NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln)
|
rs750045383
|
0.00001
|
NM_018325.5(C9orf72):c.985C>T (p.Arg329Cys)
|
rs773251849
|
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_022124.6(CDH23):c.*439C>T
|
rs140312023
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_024411.5(PDYN):c.*1336G>C
|
rs1402086088
|
0.00001
|
NM_024411.5(PDYN):c.*1532C>T
|
rs886056528
|
0.00001
|
NM_024411.5(PDYN):c.*671T>C
|
rs1290356604
|
0.00001
|
NM_024411.5(PDYN):c.*872C>A
|
rs933617446
|
0.00001
|
NM_024411.5(PDYN):c.257C>T (p.Ser86Leu)
|
rs781363760
|
0.00001
|
NM_024411.5(PDYN):c.501C>T (p.Asp167=)
|
rs886056535
|
0.00001
|
NM_024411.5(PDYN):c.571G>T (p.Gly191Trp)
|
rs767807436
|
0.00001
|
NM_025000.4(DCAF17):c.*105A>G
|
rs551802113
|
0.00001
|
NM_025000.4(DCAF17):c.*153C>G
|
rs1478413852
|
0.00001
|
NM_025000.4(DCAF17):c.*1540C>T
|
rs1398582890
|
0.00001
|
NM_025000.4(DCAF17):c.*1557T>A
|
rs920241912
|
0.00001
|
NM_025000.4(DCAF17):c.*2241T>C
|
rs1309335857
|
0.00001
|
NM_025000.4(DCAF17):c.*2535C>A
|
rs1339928313
|
0.00001
|
NM_025000.4(DCAF17):c.*2947A>C
|
rs972785459
|
0.00001
|
NM_025000.4(DCAF17):c.*3551C>T
|
rs947332859
|
0.00001
|
NM_025000.4(DCAF17):c.*423T>C
|
rs1317171792
|
0.00001
|
NM_025000.4(DCAF17):c.*432C>G
|
rs772229487
|
0.00001
|
NM_025000.4(DCAF17):c.*48A>T
|
rs753380867
|
0.00001
|
NM_025000.4(DCAF17):c.*876G>C
|
rs370150751
|
0.00001
|
NM_025000.4(DCAF17):c.-206C>G
|
rs886055103
|
0.00001
|
NM_025000.4(DCAF17):c.-212C>T
|
rs1350956940
|
0.00001
|
NM_025000.4(DCAF17):c.-213C>T
|
rs377182072
|
0.00001
|
NM_025000.4(DCAF17):c.-9C>G
|
rs886055105
|
0.00001
|
NM_025000.4(DCAF17):c.1091+13A>G
|
rs886055107
|
0.00001
|
NM_025000.4(DCAF17):c.137A>T (p.Lys46Ile)
|
rs375426959
|
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_031448.6(C19orf12):c.*1037A>G
|
rs886054318
|
0.00001
|
NM_031448.6(C19orf12):c.*1178C>A
|
rs886054317
|
0.00001
|
NM_031448.6(C19orf12):c.*1453C>T
|
rs886054316
|
0.00001
|
NM_031448.6(C19orf12):c.*1648C>T
|
rs1470866753
|
0.00001
|
NM_031448.6(C19orf12):c.*1671C>T
|
rs751700304
|
0.00001
|
NM_031448.6(C19orf12):c.*1870G>C
|
rs1188670767
|
0.00001
|
NM_031448.6(C19orf12):c.*1940T>C
|
rs148675828
|
0.00001
|
NM_031448.6(C19orf12):c.*2058T>C
|
rs529341141
|
0.00001
|
NM_031448.6(C19orf12):c.*20G>A
|
rs770407188
|
0.00001
|
NM_031448.6(C19orf12):c.*2208G>A
|
rs796818328
|
0.00001
|
NM_031448.6(C19orf12):c.*2310C>T
|
rs370293548
|
0.00001
|
NM_031448.6(C19orf12):c.*2328G>A
|
rs1464022204
|
0.00001
|
NM_031448.6(C19orf12):c.*3026G>C
|
rs377009197
|
0.00001
|
NM_031448.6(C19orf12):c.*3091A>T
|
rs1175463014
|
0.00001
|
NM_031448.6(C19orf12):c.*3294C>G
|
rs886054313
|
0.00001
|
NM_031448.6(C19orf12):c.*3300C>T
|
rs1050118432
|
0.00001
|
NM_031448.6(C19orf12):c.*3314C>T
|
rs779057343
|
0.00001
|
NM_031448.6(C19orf12):c.*3492G>T
|
rs886054312
|
0.00001
|
NM_031448.6(C19orf12):c.*3520C>T
|
rs886054311
|
0.00001
|
NM_031448.6(C19orf12):c.*3697C>T
|
rs1180327296
|
0.00001
|
NM_031448.6(C19orf12):c.*554G>A
|
rs1051290472
|
0.00001
|
NM_031448.6(C19orf12):c.*5C>T
|
rs1298758495
|
0.00001
|
NM_031448.6(C19orf12):c.-11+163G>A
|
rs886054324
|
0.00001
|
NM_031448.6(C19orf12):c.-1G>A
|
rs973794044
|
0.00001
|
NM_033305.3(VPS13A):c.*1078T>G
|
rs951051787
|
0.00001
|
NM_033305.3(VPS13A):c.*1140A>T
|
rs1360751714
|
0.00001
|
NM_033305.3(VPS13A):c.*663T>C
|
rs1172989781
|
0.00001
|
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg)
|
rs202123189
|
0.00001
|
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe)
|
rs1042881230
|
0.00001
|
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu)
|
rs1238647708
|
0.00001
|
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=)
|
rs749655544
|
0.00001
|
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp)
|
rs769146492
|
0.00001
|
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val)
|
rs368157358
|
0.00001
|
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=)
|
rs1274810899
|
0.00001
|
NM_033305.3(VPS13A):c.3813-6T>C
|
rs1057515654
|
0.00001
|
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu)
|
rs781501141
|
0.00001
|
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys)
|
rs1380006812
|
0.00001
|
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser)
|
rs72744294
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala)
|
rs377532527
|
0.00001
|
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val)
|
rs1016550070
|
0.00001
|
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn)
|
rs1034458059
|
0.00001
|
NM_033305.3(VPS13A):c.587A>G (p.His196Arg)
|
rs750690177
|
0.00001
|
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys)
|
rs754391863
|
0.00001
|
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe)
|
rs1830592063
|
0.00001
|
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys)
|
rs1168343737
|
0.00001
|
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg)
|
rs771133301
|
0.00001
|
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=)
|
rs192942248
|
0.00001
|
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His)
|
rs766585218
|
0.00001
|
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His)
|
rs762985818
|
0.00001
|
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg)
|
rs558287069
|
0.00001
|
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu)
|
rs757219762
|
0.00001
|
NM_033305.3(VPS13A):c.8668-3T>C
|
rs774310931
|
0.00001
|
NM_033305.3(VPS13A):c.9234T>C (p.His3078=)
|
rs766370355
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu)
|
rs769505139
|
0.00001
|
NM_173500.4(TTBK2):c.*1243C>T
|
rs1182692526
|
0.00001
|
NM_173500.4(TTBK2):c.-184G>C
|
rs1439973590
|
0.00001
|
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys)
|
rs759246710
|
0.00001
|
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)
|
rs758352842
|
0.00001
|
NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro)
|
rs756629999
|
0.00001
|
NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val)
|
rs749726502
|
0.00001
|
NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser)
|
rs201683789
|
0.00001
|
NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=)
|
rs769037057
|
0.00001
|
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)
|
rs777159553
|
0.00001
|
NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr)
|
rs367612243
|
0.00001
|
NM_198994.3(TGM6):c.1332G>A (p.Pro444=)
|
rs763791368
|
0.00001
|
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu)
|
rs199968743
|
0.00001
|
NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu)
|
rs776319756
|
0.00001
|
NM_198994.3(TGM6):c.1501G>A (p.Val501Met)
|
rs764377731
|
0.00001
|
NM_198994.3(TGM6):c.390C>T (p.Gly130=)
|
rs751704232
|
0.00001
|
NM_198994.3(TGM6):c.787A>G (p.Lys263Glu)
|
rs886056552
|
0.00001
|
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln)
|
rs776511523
|
0.00001
|
NM_000021.3(PSEN1):c.-241G>T
|
rs886050661
|
|
NM_000021.4(PSEN1):c.*1145G>A
|
rs886050666
|
|
NM_000021.4(PSEN1):c.*1484A>C
|
rs147866042
|
|
NM_000021.4(PSEN1):c.*1716TATGA[4]
|
rs886050670
|
|
NM_000021.4(PSEN1):c.*1858T>A
|
rs1943770310
|
|
NM_000021.4(PSEN1):c.*1867ACAG[1]
|
rs563773430
|
|
NM_000021.4(PSEN1):c.*1884G>T
|
rs1900111689
|
|
NM_000021.4(PSEN1):c.*1910A>G
|
rs1900112018
|
|
NM_000021.4(PSEN1):c.*2633G>A
|
rs564490926
|
|
NM_000021.4(PSEN1):c.*2695G>A
|
rs1900127252
|
|
NM_000021.4(PSEN1):c.*2758T>G
|
rs886050677
|
|
NM_000021.4(PSEN1):c.*3033CT[2]
|
rs886050680
|
|
NM_000021.4(PSEN1):c.*3321G>C
|
rs983079104
|
|
NM_000021.4(PSEN1):c.*3484A>C
|
rs1900141899
|
|
NM_000021.4(PSEN1):c.*3538C>G
|
rs362392
|
|
NM_000021.4(PSEN1):c.*360A>C
|
rs202176028
|
|
NM_000021.4(PSEN1):c.*3831C>T
|
rs362395
|
|
NM_000021.4(PSEN1):c.*400G>A
|
rs1190503987
|
|
NM_000021.4(PSEN1):c.*438C>T
|
rs1900072345
|
|
NM_000021.4(PSEN1):c.*562T>C
|
rs1594760800
|
|
NM_000021.4(PSEN1):c.*595T>C
|
rs886050665
|
|
NM_000021.4(PSEN1):c.*657C>T
|
rs201752111
|
|
NM_000021.4(PSEN1):c.*801C>T
|
rs201513640
|
|
NM_000021.4(PSEN1):c.-201A>C
|
rs1896745950
|
|
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln)
|
rs367775281
|
|
NM_000021.4(PSEN1):c.375G>C (p.Val125=)
|
rs1897955823
|
|
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)
|
rs150301281
|
|
NM_000021.4(PSEN1):c.843G>A (p.Thr281=)
|
rs186495252
|
|
NM_000033.4(ABCD1):c.*10C>T
|
rs1057515814
|
|
NM_000033.4(ABCD1):c.*12C>T
|
rs1413638807
|
|
NM_000033.4(ABCD1):c.*196C>G
|
rs367591611
|
|
NM_000033.4(ABCD1):c.*259A>G
|
rs374092960
|
|
NM_000033.4(ABCD1):c.*334C>G
|
rs1252368354
|
|
NM_000033.4(ABCD1):c.*409C>G
|
rs2091778411
|
|
NM_000033.4(ABCD1):c.*476A>G
|
rs372234126
|
|
NM_000033.4(ABCD1):c.*481G>T
|
rs199942817
|
|
NM_000033.4(ABCD1):c.*548GAGAGGG[1]
|
rs1057515816
|
|
NM_000033.4(ABCD1):c.*564G>A
|
rs782819878
|
|
NM_000033.4(ABCD1):c.*795C>T
|
rs1057515817
|
|
NM_000033.4(ABCD1):c.*802G>T
|
rs879957599
|
|
NM_000033.4(ABCD1):c.*805G>C
|
rs879979866
|
|
NM_000033.4(ABCD1):c.*825C>T
|
rs1557055736
|
|
NM_000033.4(ABCD1):c.*830A>G
|
rs1557055737
|
|
NM_000033.4(ABCD1):c.*831G>T
|
rs879964075
|
|
NM_000033.4(ABCD1):c.*870G>T
|
rs72616452
|
|
NM_000033.4(ABCD1):c.*901G>A
|
rs75637470
|
|
NM_000033.4(ABCD1):c.*911G>A
|
rs2091780866
|
|
NM_000033.4(ABCD1):c.*948C>T
|
rs112109783
|
|
NM_000033.4(ABCD1):c.*969A>G
|
rs1557055778
|
|
NM_000033.4(ABCD1):c.*980T>C
|
rs1557055787
|
|
NM_000033.4(ABCD1):c.-342G>A
|
rs912340339
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=)
|
rs782327280
|
|
NM_000033.4(ABCD1):c.22C>A (p.Arg8=)
|
rs2091702555
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.900+7C>T
|
rs2091712393
|
|
NM_000096.4(CP):c.*1007T>A
|
rs36120450
|
|
NM_000096.4(CP):c.*373C>T
|
rs370247691
|
|
NM_000096.4(CP):c.*536G>C
|
rs1725167347
|
|
NM_000096.4(CP):c.*583T>C
|
rs886058084
|
|
NM_000096.4(CP):c.*828dup
|
rs35907111
|
|
NM_000096.4(CP):c.1199C>A (p.Ala400Glu)
|
rs1446212124
|
|
NM_000096.4(CP):c.1774C>G (p.Leu592Val)
|
rs200226362
|
|
NM_000096.4(CP):c.1774C>T (p.Leu592Phe)
|
rs200226362
|
|
NM_000096.4(CP):c.1864+1G>C
|
rs1559942361
|
|
NM_000096.4(CP):c.1973T>C (p.Ile658Thr)
|
rs1726190460
|
|
NM_000096.4(CP):c.2268T>C (p.His756=)
|
rs765341479
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000096.4(CP):c.2286-15G>T
|
rs34861155
|
|
NM_000096.4(CP):c.2496C>T (p.Tyr832=)
|
rs1199272207
|
|
NM_000096.4(CP):c.2554+14C>G
|
rs200965170
|
|
NM_000096.4(CP):c.2557G>A (p.Glu853Lys)
|
rs886058086
|
|
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr)
|
rs570400135
|
|
NM_000096.4(CP):c.508G>A (p.Gly170Arg)
|
rs886058089
|
|
NM_000096.4(CP):c.701A>G (p.Asp234Gly)
|
rs769311718
|
|
NM_000096.4(CP):c.850T>C (p.Tyr284His)
|
rs886058088
|
|
NM_000096.4(CP):c.921G>A (p.Lys307=)
|
rs543777038
|
|
NM_000146.4(FTL):c.*76G>A
|
rs2038463168
|
|
NM_000146.4(FTL):c.-173C>G
|
rs1053572388
|
|
NM_000146.4(FTL):c.-186C>A
|
rs981348025
|
|
NM_000146.4(FTL):c.103-14A>C
|
rs769222073
|
|
NM_000146.4(FTL):c.103-14A>G
|
rs769222073
|
|
NM_000146.4(FTL):c.181G>A (p.Glu61Lys)
|
rs2038446561
|
|
NM_000146.4(FTL):c.232C>T (p.Leu78Phe)
|
rs751857518
|
|
NM_000146.4(FTL):c.234C>T (p.Leu78=)
|
rs559383814
|
|
NM_000146.4(FTL):c.324C>T (p.Asn108=)
|
rs754652110
|
|
NM_000306.4(POU1F1):c.*138T>A
|
rs190287993
|
|
NM_000306.4(POU1F1):c.*139dup
|
rs368061882
|
|
NM_000306.4(POU1F1):c.*213=
|
rs6792500
|
|
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_000447.3(PSEN2):c.*479G>T
|
rs201177570
|
|
NM_000447.3(PSEN2):c.-136G>A
|
rs1660571955
|
|
NM_000447.3(PSEN2):c.-144A>G
|
rs886046061
|
|
NM_000447.3(PSEN2):c.-278C>A
|
rs199532840
|
|
NM_000447.3(PSEN2):c.-278C>T
|
rs199532840
|
|
NM_000447.3(PSEN2):c.1077C>T (p.Gly359=)
|
rs753503617
|
|
NM_000447.3(PSEN2):c.1245C>T (p.Ala415=)
|
rs1387034807
|
|
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala)
|
rs766853710
|
|
NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu)
|
rs371562367
|
|
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser)
|
rs756225509
|
|
NM_000484.3(APP):c.-186G>T
|
rs886056999
|
|
NM_000484.4(APP):c.*521T>C
|
rs2036961192
|
|
NM_000484.4(APP):c.*735G>A
|
rs202132811
|
|
NM_000484.4(APP):c.*7G>A
|
rs201922766
|
|
NM_000484.4(APP):c.*810C>T
|
rs2036941224
|
|
NM_000484.4(APP):c.*97C>A
|
rs886056992
|
|
NM_000484.4(APP):c.-111G>T
|
rs459543
|
|
NM_000484.4(APP):c.-170C>A
|
rs538664273
|
|
NM_000484.4(APP):c.121C>G (p.Leu41Val)
|
rs886056997
|
|
NM_000484.4(APP):c.1530G>C (p.Lys510Asn)
|
rs767201930
|
|
NM_000484.4(APP):c.1641G>T (p.Leu547=)
|
rs199860711
|
|
NM_000484.4(APP):c.1642C>G (p.Leu548Val)
|
rs886056994
|
|
NM_000484.4(APP):c.1664C>T (p.Ala555Val)
|
rs886056993
|
|
NM_000484.4(APP):c.2012T>C (p.Met671Thr)
|
rs2038161468
|
|
NM_000484.4(APP):c.2175G>C (p.Lys725Asn)
|
rs1569014114
|
|
NM_000484.4(APP):c.468+11A>G
|
rs886056995
|
|
NM_000484.4(APP):c.751G>A (p.Gly251Ser)
|
rs2044360130
|
|
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)
|
rs527890624
|
|
NM_000484.4(APP):c.881A>G (p.Gln294Arg)
|
rs1371336849
|
|
NM_000484.4(APP):c.966C>G (p.Gly322=)
|
rs200016837
|
|
NM_000487.6(ARSA):c.*1012C>T
|
rs886057650
|
|
NM_000487.6(ARSA):c.*1049T>A
|
rs868511268
|
|
NM_000487.6(ARSA):c.*1062dup
|
rs763817529
|
|
NM_000487.6(ARSA):c.*1073G>T
|
rs185955658
|
|
NM_000487.6(ARSA):c.*1157G>T
|
rs775298785
|
|
NM_000487.6(ARSA):c.*1206G>T
|
rs867069706
|
|
NM_000487.6(ARSA):c.*1238T>G
|
rs6010033
|
|
NM_000487.6(ARSA):c.*125C>G
|
rs886057656
|
|
NM_000487.6(ARSA):c.*1267C>T
|
rs886057648
|
|
NM_000487.6(ARSA):c.*127A>T
|
rs977218325
|
|
NM_000487.6(ARSA):c.*130C>A
|
rs886057655
|
|
NM_000487.6(ARSA):c.*1351C>G
|
rs131717
|
|
NM_000487.6(ARSA):c.*1372G>A
|
rs190478606
|
|
NM_000487.6(ARSA):c.*1372G>T
|
rs190478606
|
|
NM_000487.6(ARSA):c.*1404dup
|
rs746677403
|
|
NM_000487.6(ARSA):c.*1475C>G
|
rs184515588
|
|
NM_000487.6(ARSA):c.*1477C>T
|
rs2082619608
|
|
NM_000487.6(ARSA):c.*1576A>C
|
rs886057647
|
|
NM_000487.6(ARSA):c.*1617G>A
|
rs886057646
|
|
NM_000487.6(ARSA):c.*1627G>C
|
rs886057645
|
|
NM_000487.6(ARSA):c.*165G>A
|
rs144366706
|
|
NM_000487.6(ARSA):c.*1825C>T
|
rs2082615571
|
|
NM_000487.6(ARSA):c.*2023G>C
|
rs886057642
|
|
NM_000487.6(ARSA):c.*2065C>T
|
rs776085194
|
|
NM_000487.6(ARSA):c.*2088CCT[1]
|
rs886057641
|
|
NM_000487.6(ARSA):c.*2134C>A
|
rs911625206
|
|
NM_000487.6(ARSA):c.*2205A>T
|
rs886057640
|
|
NM_000487.6(ARSA):c.*2283A>G
|
rs2082610056
|
|
NM_000487.6(ARSA):c.*389A>G
|
rs547501508
|
|
NM_000487.6(ARSA):c.*413T>G
|
rs986551305
|
|
NM_000487.6(ARSA):c.*624G>T
|
rs2082632282
|
|
NM_000487.6(ARSA):c.*643T>C
|
rs886057653
|
|
NM_000487.6(ARSA):c.*777C>G
|
rs115593886
|
|
NM_000487.6(ARSA):c.*874T>C
|
rs886057651
|
|
NM_000487.6(ARSA):c.-20G>C
|
rs886057659
|
|
NM_000487.6(ARSA):c.-343C>T
|
rs1028447908
|
|
NM_000487.6(ARSA):c.-362G>C
|
rs886057662
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1210+13C>T
|
rs6151426
|
|
NM_000487.6(ARSA):c.1434G>C (p.Gln478His)
|
rs769169905
|
|
NM_000487.6(ARSA):c.151C>G (p.Leu51Val)
|
rs1348625953
|
|
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln)
|
rs759295985
|
|
NM_000487.6(ARSA):c.495G>A (p.Pro165=)
|
rs145299072
|
|
NM_000487.6(ARSA):c.778G>T (p.Val260Leu)
|
rs2082674602
|
|
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)
|
rs199476387
|
|
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.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_001020658.2(PUM1):c.7G>A (p.Val3Ile)
|
rs1187853515
|
|
NM_001020658.2(PUM1):c.896C>A (p.Pro299His)
|
rs1641834551
|
|
NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)
|
rs2147817901
|
|
NM_001029896.2(WDR45):c.725+2T>A
|
|
|
NM_001029896.2(WDR45):c.973+1G>A
|
rs869312661
|
|
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_001130823.3(DNMT1):c.*18C>A
|
rs778467461
|
|
NM_001130823.3(DNMT1):c.*18C>T
|
rs778467461
|
|
NM_001130823.3(DNMT1):c.*34A>C
|
rs1416080045
|
|
NM_001130823.3(DNMT1):c.-34C>G
|
rs112908248
|
|
NM_001130823.3(DNMT1):c.1009-8C>G
|
rs766626750
|
|
NM_001130823.3(DNMT1):c.1171-7C>T
|
rs1168540279
|
|
NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=)
|
rs1599371468
|
|
NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=)
|
rs2038347997
|
|
NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=)
|
rs775786809
|
|
NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp)
|
rs1255153711
|
|
NM_001130823.3(DNMT1):c.3948+4G>A
|
rs774356396
|
|
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met)
|
rs377146699
|
|
NM_001256054.3(C9orf72):c.-113C>G
|
rs750403732
|
|
NM_001256054.3(C9orf72):c.-157G>A
|
rs1819655845
|
|
NM_001257180.2(SLC20A2):c.*1320C>T
|
rs963612970
|
|
NM_001257180.2(SLC20A2):c.*171G>A
|
rs908206225
|
|
NM_001257180.2(SLC20A2):c.*538C>T
|
rs746914329
|
|
NM_001257180.2(SLC20A2):c.*660T>C
|
rs1211116059
|
|
NM_001257180.2(SLC20A2):c.*70C>T
|
rs371247567
|
|
NM_001257180.2(SLC20A2):c.-181T>A
|
rs780358007
|
|
NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn)
|
rs748895007
|
|
NM_001257180.2(SLC20A2):c.1338G>C (p.Glu446Asp)
|
rs374973821
|
|
NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu)
|
rs1420760497
|
|
NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu)
|
rs188325552
|
|
NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=)
|
rs556568855
|
|
NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile)
|
rs369823081
|
|
NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=)
|
rs778920007
|
|
NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu)
|
rs886041752
|
|
NM_001376.4(DYNC1H1):c.-122C>T
|
rs566619022
|
|
NM_001376.5(DYNC1H1):c.*194C>G
|
rs566606862
|
|
NM_001376.5(DYNC1H1):c.*70T>C
|
rs1047475161
|
|
NM_001376.5(DYNC1H1):c.-90C>T
|
rs1256118131
|
|
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)
|
rs886050371
|
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=)
|
rs886050373
|
|
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=)
|
rs886050374
|
|
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
|
rs2048578052
|
|
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg)
|
rs886050375
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
rs2048621150
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
|
|
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr)
|
rs886050376
|
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
rs963837216
|
|
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
rs2048072049
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
rs2048126886
|
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
rs1595609824
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
|
rs2048192586
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723
|
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
rs2048317566
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
rs2048487270
|
|
NM_001378452.1(ITPR1):c.*1076TTCTT[1]
|
rs886058653
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1]
|
rs1553771554
|
|
NM_001378452.1(ITPR1):c.*1183_*1184dup
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1184del
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1266G>A
|
rs886058655
|
|
NM_001378452.1(ITPR1):c.*13A>T
|
rs886058644
|
|
NM_001378452.1(ITPR1):c.*312G>A
|
rs886058646
|
|
NM_001378452.1(ITPR1):c.*356TG[1]
|
rs113825412
|
|
NM_001378452.1(ITPR1):c.*472T>G
|
rs2051804981
|
|
NM_001378452.1(ITPR1):c.*539_*540dup
|
rs886058648
|
|
NM_001378452.1(ITPR1):c.*549G>T
|
rs781519977
|
|
NM_001378452.1(ITPR1):c.*592T>G
|
rs2051813316
|
|
NM_001378452.1(ITPR1):c.*668T>C
|
rs886058649
|
|
NM_001378452.1(ITPR1):c.*814_*817dup
|
rs148070806
|
|
NM_001378452.1(ITPR1):c.*879T>C
|
rs1428879075
|
|
NM_001378452.1(ITPR1):c.*970C>A
|
rs2051846001
|
|
NM_001378452.1(ITPR1):c.-103C>T
|
rs750565307
|
|
NM_001378452.1(ITPR1):c.-143C>A
|
rs886058524
|
|
NM_001378452.1(ITPR1):c.-2A>G
|
rs369723935
|
|
NM_001378452.1(ITPR1):c.-315C>T
|
rs572878578
|
|
NM_001378452.1(ITPR1):c.-341A>T
|
rs565843811
|
|
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys)
|
rs779003637
|
|
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=)
|
rs2306869
|
|
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=)
|
rs2306869
|
|
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile)
|
rs2093848251
|
|
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn)
|
rs2093849179
|
|
NM_001378452.1(ITPR1):c.1412+6C>T
|
rs2093850197
|
|
NM_001378452.1(ITPR1):c.1413-15G>A
|
rs148675260
|
|
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=)
|
rs886058612
|
|
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly)
|
rs2093921786
|
|
NM_001378452.1(ITPR1):c.2204+14G>A
|
rs529693973
|
|
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys)
|
rs961418831
|
|
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=)
|
rs553559062
|
|
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val)
|
rs111670385
|
|
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=)
|
rs886058614
|
|
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=)
|
rs541386070
|
|
NM_001378452.1(ITPR1):c.366+15C>T
|
rs145989158
|
|
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser)
|
rs1159285250
|
|
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=)
|
rs2094513887
|
|
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=)
|
rs555819278
|
|
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser)
|
rs886058615
|
|
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=)
|
rs2082182114
|
|
NM_001378452.1(ITPR1):c.4992-7del
|
rs546612625
|
|
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=)
|
rs2041390618
|
|
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter)
|
rs886058579
|
|
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln)
|
rs2291864
|
|
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=)
|
rs774018521
|
|
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=)
|
rs776891199
|
|
NM_001378452.1(ITPR1):c.5725+15G>A
|
rs2045841537
|
|
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=)
|
rs1157485528
|
|
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val)
|
rs2046693194
|
|
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn)
|
rs886058620
|
|
NM_001378452.1(ITPR1):c.7562-11C>T
|
rs368532017
|
|
NM_001378452.1(ITPR1):c.7677T>C (p.Asp2559=)
|
rs886058626
|
|
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=)
|
rs775463557
|
|
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=)
|
rs2050964614
|
|
NM_001378452.1(ITPR1):c.8190+13_8190+14del
|
rs552585900
|
|
NM_001386393.1(PANK2):c.*468T>C
|
rs541731517
|
|
NM_001386393.1(PANK2):c.*63dup
|
rs143725982
|
|
NM_001386393.1(PANK2):c.-28C>T
|
rs544239478
|
|
NM_001386393.1(PANK2):c.-29C>T
|
rs573948434
|
|
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT
|
rs1555789541
|
|
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)
|
rs559623184
|
|
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser)
|
rs2090073827
|
|
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)
|
rs886056652
|
|
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)
|
rs375741383
|
|
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)
|
rs375741383
|
|
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)
|
rs3737084
|
|
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)
|
rs1742717583
|
|
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_002087.3(GRN):c.-212G>A
|
rs886053002
|
|
NM_002087.4(GRN):c.-8+3A>C
|
rs63751020
|
|
NM_002087.4(GRN):c.100C>G (p.Pro34Ala)
|
rs748147151
|
|
NM_002087.4(GRN):c.1087_1088del (p.Asp363fs)
|
rs1567887576
|
|
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del)
|
rs754862784
|
|
NM_002087.4(GRN):c.1179+6T>C
|
rs765761482
|
|
NM_002087.4(GRN):c.1180-8C>A
|
rs774308165
|
|
NM_002087.4(GRN):c.1468G>A (p.Val490Met)
|
rs886053006
|
|
NM_002087.4(GRN):c.1518C>T (p.Thr506=)
|
rs768852944
|
|
NM_002087.4(GRN):c.1548G>T (p.Val516=)
|
rs1044281109
|
|
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp)
|
rs1242287545
|
|
NM_002087.4(GRN):c.393C>T (p.Phe131=)
|
rs149180605
|
|
NM_002087.4(GRN):c.99C>A (p.Asp33Glu)
|
rs63750742
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_002103.5(GYS1):c.*1113_*1116del
|
rs148396922
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
NM_002103.5(GYS1):c.1749C>A (p.Ile583=)
|
rs146698792
|
|
NM_002222.6(ITPR1):c.*1366C>A
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1366C>T
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1531G>A
|
rs9817206
|
|
NM_002222.6(ITPR1):c.*1531G>T
|
rs9817206
|
|
NM_002739.5(PRKCG):c.*39C>T
|
rs776490487
|
|
NM_002739.5(PRKCG):c.*59dup
|
rs144706041
|
|
NM_002739.5(PRKCG):c.1764+8C>T
|
rs756397908
|
|
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=)
|
rs868833808
|
|
NM_002778.3(PSAP):c.-33T>C
|
rs143987544
|
|
NM_002778.3(PSAP):c.-56A>G
|
rs534586960
|
|
NM_002778.3(PSAP):c.-62A>G
|
rs886047155
|
|
NM_002778.3(PSAP):c.-99T>G
|
rs886047156
|
|
NM_002778.4(PSAP):c.*113C>T
|
rs544214520
|
|
NM_002778.4(PSAP):c.*526G>A
|
rs1842177081
|
|
NM_002778.4(PSAP):c.*73C>T
|
rs541692197
|
|
NM_002778.4(PSAP):c.*859C>T
|
rs886047149
|
|
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)
|
rs544300820
|
|
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)
|
rs760621775
|
|
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)
|
rs529719024
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
NM_002778.4(PSAP):c.1329G>T (p.Leu443=)
|
rs1842249121
|
|
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)
|
rs761637109
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)
|
rs757553906
|
|
NM_003560.4(PLA2G6):c.*183_*187del
|
rs139718702
|
|
NM_003560.4(PLA2G6):c.*350C>A
|
rs11570770
|
|
NM_003560.4(PLA2G6):c.*548C>G
|
rs866066890
|
|
NM_003560.4(PLA2G6):c.*565C>G
|
rs886057497
|
|
NM_003560.4(PLA2G6):c.-130C>T
|
rs11570597
|
|
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)
|
rs1451486649
|
|
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
|
rs387906863
|
|
NM_003560.4(PLA2G6):c.1977C>T (p.Asn659=)
|
rs201727354
|
|
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu)
|
rs369038599
|
|
NM_003560.4(PLA2G6):c.2035-926G>A
|
|
|
NM_003560.4(PLA2G6):c.2035G>A (p.Gly679Ser)
|
rs886057501
|
|
NM_003560.4(PLA2G6):c.2202+5G>A
|
rs587784348
|
|
NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln)
|
rs751982449
|
|
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)
|
rs142715413
|
|
NM_003560.4(PLA2G6):c.776C>A (p.Ala259Asp)
|
rs2088801961
|
|
NM_003560.4(PLA2G6):c.894+6T>G
|
rs2088460355
|
|
NM_003560.4(PLA2G6):c.894+8G>A
|
rs752942062
|
|
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)
|
rs199935023
|
|
NM_004115.4(FGF14):c.*101_*104del
|
rs886049937
|
|
NM_004115.4(FGF14):c.*1058_*1062dup
|
rs577253536
|
|
NM_004115.4(FGF14):c.*1199A>G
|
rs372768269
|
|
NM_004115.4(FGF14):c.*1251G>A
|
rs2034988925
|
|
NM_004115.4(FGF14):c.*1387_*1390dup
|
rs10626847
|
|
NM_004115.4(FGF14):c.*1445_*1446dup
|
rs141506954
|
|
NM_004115.4(FGF14):c.*1609_*1612del
|
rs747506157
|
|
NM_004115.4(FGF14):c.*1618T>A
|
rs15608
|
|
NM_004115.4(FGF14):c.*1761G>C
|
rs886049931
|
|
NM_004115.4(FGF14):c.*176dup
|
rs144061152
|
|
NM_004115.4(FGF14):c.*1886_*1889dup
|
rs559888067
|
|
NM_004115.4(FGF14):c.*1918T>C
|
rs2034930325
|
|
NM_004115.4(FGF14):c.*1948C>T
|
rs2034928409
|
|
NM_004115.4(FGF14):c.*369A>G
|
rs2035058657
|
|
NM_004115.4(FGF14):c.*535G>T
|
rs897525331
|
|
NM_004115.4(FGF14):c.*658T>G
|
rs2035039616
|
|
NM_004115.4(FGF14):c.*699T>C
|
rs2035036843
|
|
NM_004115.4(FGF14):c.*783C>G
|
rs886049935
|
|
NM_004115.4(FGF14):c.*794GT[4]
|
rs371464074
|
|
NM_004115.4(FGF14):c.*863G>C
|
rs1211426419
|
|
NM_004115.4(FGF14):c.*919_*922dup
|
rs768342824
|
|
NM_004115.4(FGF14):c.*971_*972dup
|
rs34628929
|
|
NM_004115.4(FGF14):c.*972del
|
rs34628929
|
|
NM_004115.4(FGF14):c.*972dup
|
rs34628929
|
|
NM_004115.4(FGF14):c.468C>T (p.Ile156=)
|
rs558694053
|
|
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg)
|
rs886049938
|
|
NM_004115.4(FGF14):c.693G>A (p.Ala231=)
|
rs34397704
|
|
NM_004960.3(FUS):c.*1230C>G
|
rs886051945
|
|
NM_004960.3(FUS):c.*1302T>G
|
rs1323278196
|
|
NM_004960.3(FUS):c.*1734C>T
|
rs886051949
|
|
NM_004960.3(FUS):c.*175C>T
|
rs375615976
|
|
NM_004960.3(FUS):c.*2063C>G
|
rs954792797
|
|
NM_004960.3(FUS):c.*2329G>C
|
rs2079389885
|
|
NM_004960.3(FUS):c.*272T>C
|
rs1175838580
|
|
NM_004960.3(FUS):c.*2815T>C
|
rs2079395649
|
|
NM_004960.3(FUS):c.*2955A>G
|
rs149361851
|
|
NM_004960.3(FUS):c.*3092C>T
|
rs886051958
|
|
NM_004960.3(FUS):c.*3230A>G
|
rs550798081
|
|
NM_004960.3(FUS):c.*3263T>G
|
rs886051959
|
|
NM_004960.3(FUS):c.*408A>C
|
rs553760130
|
|
NM_004960.3(FUS):c.*415A>T
|
rs771689682
|
|
NM_004960.3(FUS):c.*805C>G
|
rs886051942
|
|
NM_004960.3(FUS):c.*814T>C
|
rs772679520
|
|
NM_004960.3(FUS):c.*953G>T
|
rs2079374011
|
|
NM_004960.4(FUS):c.*132C>A
|
rs565540429
|
|
NM_004960.4(FUS):c.-15C>G
|
rs768477428
|
|
NM_004960.4(FUS):c.-48C>G
|
rs199671743
|
|
NM_004960.4(FUS):c.-49G>A
|
rs200997075
|
|
NM_004960.4(FUS):c.-49G>T
|
rs200997075
|
|
NM_004960.4(FUS):c.-53C>T
|
rs759668256
|
|
NM_004960.4(FUS):c.1181G>T (p.Arg394Leu)
|
rs886051936
|
|
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu)
|
rs1131691846
|
|
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys)
|
rs914056789
|
|
NM_004960.4(FUS):c.40T>A (p.Tyr14Asn)
|
rs2079194587
|
|
NM_004960.4(FUS):c.524-7C>T
|
rs747200795
|
|
NM_004960.4(FUS):c.52C>T (p.Pro18Ser)
|
rs144888138
|
|
NM_004960.4(FUS):c.824A>G (p.His275Arg)
|
rs1405011209
|
|
NM_004960.4(FUS):c.833-9A>T
|
rs1055720509
|
|
NM_004960.4(FUS):c.937-10C>T
|
rs199705472
|
|
NM_006749.4(SLC20A2):c.-410C>T
|
rs1813237071
|
|
NM_006749.5(SLC20A2):c.-265+5dup
|
rs1554579488
|
|
NM_006749.5(SLC20A2):c.-265+8dup
|
rs1554579481
|
|
NM_006749.5(SLC20A2):c.-288G>C
|
rs1554579510
|
|
NM_006749.5(SLC20A2):c.-350T>G
|
rs1813229018
|
|
NM_006796.3(AFG3L2):c.*311C>T
|
rs79884272
|
|
NM_006796.3(AFG3L2):c.-18A>G
|
rs886053618
|
|
NM_006796.3(AFG3L2):c.-78C>A
|
rs1909190689
|
|
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)
|
rs375098002
|
|
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser)
|
rs1908301962
|
|
NM_006796.3(AFG3L2):c.1664-5G>C
|
rs886053615
|
|
NM_006796.3(AFG3L2):c.215-11_215-6del
|
rs533823759
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu)
|
rs886053616
|
|
NM_006796.3(AFG3L2):c.293-14_293-13del
|
rs556473698
|
|
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=)
|
rs1908570292
|
|
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu)
|
rs886053617
|
|
NM_006946.4(SPTBN2):c.1081G>A (p.Glu361Lys)
|
|
|
NM_006946.4(SPTBN2):c.1351-7G>A
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1351-7G>T
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=)
|
rs776570497
|
|
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=)
|
rs748341964
|
|
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=)
|
rs766115824
|
|
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=)
|
rs886048551
|
|
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln)
|
rs886048552
|
|
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=)
|
rs886048549
|
|
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp)
|
rs886048547
|
|
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln)
|
rs541138596
|
|
NM_006946.4(SPTBN2):c.6431C>T (p.Thr2144Ile)
|
rs886048546
|
|
NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro)
|
rs886048545
|
|
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=)
|
rs750664912
|
|
NM_007126.5(VCP):c.*216G>A
|
rs567542622
|
|
NM_007126.5(VCP):c.*788G>A
|
rs886063887
|
|
NM_007126.5(VCP):c.-53C>T
|
rs369830702
|
|
NM_007126.5(VCP):c.1293C>T (p.Asp431=)
|
rs1828712869
|
|
NM_007126.5(VCP):c.130-9T>C
|
rs1828868223
|
|
NM_007126.5(VCP):c.185A>G (p.Lys62Arg)
|
rs886063892
|
|
NM_007126.5(VCP):c.591C>G (p.Ser197=)
|
rs866003333
|
|
NM_007126.5(VCP):c.794T>C (p.Phe265Ser)
|
rs1828756507
|
|
NM_007375.4(TARDBP):c.*1084A>T
|
rs886045041
|
|
NM_007375.4(TARDBP):c.*142T>C
|
rs1643667051
|
|
NM_007375.4(TARDBP):c.*1597_*1600del
|
rs748047297
|
|
NM_007375.4(TARDBP):c.*159A>C
|
rs886045037
|
|
NM_007375.4(TARDBP):c.*1633del
|
rs886045043
|
|
NM_007375.4(TARDBP):c.*2005T>C
|
rs886045045
|
|
NM_007375.4(TARDBP):c.*2029C>T
|
rs886045046
|
|
NM_007375.4(TARDBP):c.*2260T>G
|
rs1241104365
|
|
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT
|
rs3059695
|
|
NM_007375.4(TARDBP):c.*2360C>T
|
rs886045049
|
|
NM_007375.4(TARDBP):c.*2538del
|
rs886045050
|
|
NM_007375.4(TARDBP):c.*2829dup
|
rs886045051
|
|
NM_007375.4(TARDBP):c.*505del
|
rs886045038
|
|
NM_007375.4(TARDBP):c.*560A>T
|
rs1218479013
|
|
NM_007375.4(TARDBP):c.*56C>T
|
rs1440666601
|
|
NM_007375.4(TARDBP):c.*616G>C
|
rs1401947753
|
|
NM_007375.4(TARDBP):c.*697G>A
|
rs387906334
|
|
NM_007375.4(TARDBP):c.*763G>A
|
rs1643678827
|
|
NM_007375.4(TARDBP):c.*842G>A
|
rs886045039
|
|
NM_007375.4(TARDBP):c.*862G>T
|
rs886045040
|
|
NM_007375.4(TARDBP):c.-12-10_-12-9del
|
rs575825467
|
|
NM_007375.4(TARDBP):c.-42C>T
|
rs886045033
|
|
NM_007375.4(TARDBP):c.-77G>A
|
rs886045032
|
|
NM_007375.4(TARDBP):c.717T>C (p.Ile239=)
|
rs1643650855
|
|
NM_014043.3(CHMP2B):c.-259C>A
|
rs538600777
|
|
NM_014043.4(CHMP2B):c.*1008_*1011del
|
rs886058911
|
|
NM_014043.4(CHMP2B):c.*106dup
|
rs368297778
|
|
NM_014043.4(CHMP2B):c.*1080C>T
|
rs963258376
|
|
NM_014043.4(CHMP2B):c.*121G>A
|
rs1706359144
|
|
NM_014043.4(CHMP2B):c.*1376G>C
|
rs191203869
|
|
NM_014043.4(CHMP2B):c.*1414T>C
|
rs1575973316
|
|
NM_014043.4(CHMP2B):c.*602T>G
|
rs886058908
|
|
NM_014043.4(CHMP2B):c.*626A>G
|
rs971797498
|
|
NM_014043.4(CHMP2B):c.*92dup
|
rs886058906
|
|
NM_014043.4(CHMP2B):c.*955_*960del
|
rs886058909
|
|
NM_014043.4(CHMP2B):c.*968G>A
|
rs886058910
|
|
NM_014043.4(CHMP2B):c.-38C>T
|
rs886058905
|
|
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)
|
rs1706200423
|
|
NM_014043.4(CHMP2B):c.531+8C>T
|
rs374796686
|
|
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
|
|
|
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile)
|
rs1435279555
|
|
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_018325.5(C9orf72):c.*1064A>G
|
rs184151041
|
|
NM_018325.5(C9orf72):c.*1136T>C
|
rs375528640
|
|
NM_018325.5(C9orf72):c.*144C>T
|
rs1820806932
|
|
NM_018325.5(C9orf72):c.*1626G>A
|
rs1820774330
|
|
NM_018325.5(C9orf72):c.*356T>G
|
rs886063838
|
|
NM_018325.5(C9orf72):c.*577G>C
|
rs886063836
|
|
NM_018325.5(C9orf72):c.*787G>A
|
rs148832592
|
|
NM_018325.5(C9orf72):c.1051G>T (p.Asp351Tyr)
|
rs1307772456
|
|
NM_018325.5(C9orf72):c.1426G>C (p.Asp476His)
|
rs767272170
|
|
NM_018325.5(C9orf72):c.218G>A (p.Arg73Gln)
|
rs1819480368
|
|
NM_018325.5(C9orf72):c.329A>G (p.Tyr110Cys)
|
rs1375695528
|
|
NM_018325.5(C9orf72):c.771A>G (p.Pro257=)
|
rs1169081203
|
|
NM_018325.5(C9orf72):c.994A>T (p.Met332Leu)
|
rs146043466
|
|
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])
|
rs1398218251
|
|
NM_020702.5(MYORG):c.701_702del (p.Ala234fs)
|
|
|
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_022124.6(CDH23):c.*588del
|
rs148667421
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|
NM_024411.4(PDYN):c.-402C>G
|
rs775379753
|
|
NM_024411.5(PDYN):c.*1065C>T
|
rs953182789
|
|
NM_024411.5(PDYN):c.*1274T>G
|
rs886056529
|
|
NM_024411.5(PDYN):c.*1394C>A
|
rs112661575
|
|
NM_024411.5(PDYN):c.*1394C>T
|
rs112661575
|
|
NM_024411.5(PDYN):c.*389A>T
|
rs1987615154
|
|
NM_024411.5(PDYN):c.*449_*459delinsTAA
|
rs886056533
|
|
NM_024411.5(PDYN):c.*556C>A
|
rs73571349
|
|
NM_024411.5(PDYN):c.*65C>G
|
rs1987645885
|
|
NM_024411.5(PDYN):c.*670A>T
|
rs879202411
|
|
NM_024411.5(PDYN):c.*700_*703del
|
rs572674195
|
|
NM_024411.5(PDYN):c.*760G>C
|
rs767631485
|
|
NM_024411.5(PDYN):c.*771T>C
|
rs910079
|
|
NM_024411.5(PDYN):c.-42A>T
|
rs886056536
|
|
NM_024411.5(PDYN):c.-43G>A
|
rs947395569
|
|
NM_024411.5(PDYN):c.244T>C (p.Leu82=)
|
rs987477947
|
|
NM_024411.5(PDYN):c.405C>T (p.Asp135=)
|
rs147181436
|
|
NM_024411.5(PDYN):c.496del (p.Glu166fs)
|
rs768036104
|
|
NM_024411.5(PDYN):c.582C>T (p.Asp194=)
|
rs769461186
|
|
NM_024411.5(PDYN):c.691C>T (p.Arg231Trp)
|
rs201204862
|
|
NM_024411.5(PDYN):c.86G>T (p.Cys29Phe)
|
rs1987927570
|
|
NM_025000.4(DCAF17):c.*1165C>G
|
rs886055109
|
|
NM_025000.4(DCAF17):c.*1258dup
|
rs745661005
|
|
NM_025000.4(DCAF17):c.*1485AG[1]
|
rs886055111
|
|
NM_025000.4(DCAF17):c.*1565del
|
rs560178345
|
|
NM_025000.4(DCAF17):c.*2066A>G
|
rs886055113
|
|
NM_025000.4(DCAF17):c.*2318C>T
|
rs1696824875
|
|
NM_025000.4(DCAF17):c.*2623T>G
|
rs886055115
|
|
NM_025000.4(DCAF17):c.*2775G>T
|
rs16859404
|
|
NM_025000.4(DCAF17):c.*2965TTC[3]
|
rs886055117
|
|
NM_025000.4(DCAF17):c.*3008TTGT[1]
|
rs374810983
|
|
NM_025000.4(DCAF17):c.*3107A>G
|
rs1696862024
|
|
NM_025000.4(DCAF17):c.*3170A>G
|
rs865846361
|
|
NM_025000.4(DCAF17):c.*3453A>G
|
rs747674263
|
|
NM_025000.4(DCAF17):c.*3811A>G
|
rs1696888826
|
|
NM_025000.4(DCAF17):c.*3835A>G
|
rs886055119
|
|
NM_025000.4(DCAF17):c.*808T>A
|
rs886055108
|
|
NM_025000.4(DCAF17):c.*864A>G
|
rs1696764439
|
|
NM_025000.4(DCAF17):c.-198T>C
|
rs886055104
|
|
NM_025000.4(DCAF17):c.-222G>A
|
rs1693603245
|
|
NM_025000.4(DCAF17):c.-243C>G
|
rs886055102
|
|
NM_025000.4(DCAF17):c.1266+4T>C
|
rs1696579172
|
|
NM_025000.4(DCAF17):c.133A>G (p.Thr45Ala)
|
rs758636084
|
|
NM_025000.4(DCAF17):c.181T>C (p.Tyr61His)
|
rs1321628221
|
|
NM_025000.4(DCAF17):c.959G>T (p.Cys320Phe)
|
rs1696082466
|
|
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr)
|
rs748586810
|
|
NM_025000.4(DCAF17):c.986A>C (p.Lys329Thr)
|
rs1363225398
|
|
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
|
|
NM_031448.6(C19orf12):c.*1021dup
|
rs758272383
|
|
NM_031448.6(C19orf12):c.*1111A>G
|
rs767110273
|
|
NM_031448.6(C19orf12):c.*1203A>G
|
rs1972082905
|
|
NM_031448.6(C19orf12):c.*1361C>T
|
rs189239161
|
|
NM_031448.6(C19orf12):c.*1362G>A
|
rs113343769
|
|
NM_031448.6(C19orf12):c.*1362G>T
|
rs113343769
|
|
NM_031448.6(C19orf12):c.*136C>T
|
rs886054321
|
|
NM_031448.6(C19orf12):c.*137G>A
|
rs746454120
|
|
NM_031448.6(C19orf12):c.*1944A>G
|
rs1972043921
|
|
NM_031448.6(C19orf12):c.*2207C>T
|
rs1486513005
|
|
NM_031448.6(C19orf12):c.*2373G>T
|
rs76746960
|
|
NM_031448.6(C19orf12):c.*2732G>A
|
rs761466058
|
|
NM_031448.6(C19orf12):c.*2790dup
|
rs35730141
|
|
NM_031448.6(C19orf12):c.*308C>T
|
rs886054320
|
|
NM_031448.6(C19orf12):c.*3227_*3229del
|
rs60814860
|
|
NM_031448.6(C19orf12):c.*3402dup
|
rs139713991
|
|
NM_031448.6(C19orf12):c.*3518C>A
|
rs62105838
|
|
NM_031448.6(C19orf12):c.*3518C>T
|
rs62105838
|
|
NM_031448.6(C19orf12):c.*3672C>T
|
rs886054310
|
|
NM_031448.6(C19orf12):c.*437C>G
|
rs1048104
|
|
NM_031448.6(C19orf12):c.*437C>T
|
rs1048104
|
|
NM_031448.6(C19orf12):c.*466G>A
|
rs886054319
|
|
NM_031448.6(C19orf12):c.-10-12T>A
|
rs886054323
|
|
NM_031448.6(C19orf12):c.-11+131C>T
|
rs886054325
|
|
NM_031448.6(C19orf12):c.113T>C (p.Met38Thr)
|
rs1972486898
|
|
NM_031448.6(C19orf12):c.241C>A (p.Pro81Thr)
|
rs756687848
|
|
NM_031448.6(C19orf12):c.371T>C (p.Met124Thr)
|
rs1972169092
|
|
NM_031448.6(C19orf12):c.80A>T (p.His27Leu)
|
rs886054322
|
|
NM_032383.5(HPS3):c.2887+19dup
|
rs397710976
|
|
NM_033305.2(VPS13A):c.-183G>A
|
rs12349389
|
|
NM_033305.2(VPS13A):c.-183G>C
|
rs12349389
|
|
NM_033305.2(VPS13A):c.-232G>C
|
rs545092496
|
|
NM_033305.2(VPS13A):c.-264G>C
|
rs542679691
|
|
NM_033305.3(VPS13A):c.*106T>G
|
rs1835160786
|
|
NM_033305.3(VPS13A):c.*1133A>C
|
rs182044001
|
|
NM_033305.3(VPS13A):c.*1248_*1251dup
|
rs1057515668
|
|
NM_033305.3(VPS13A):c.*133CAAA[1]
|
rs914078686
|
|
NM_033305.3(VPS13A):c.*274AGA[1]
|
rs147672353
|
|
NM_033305.3(VPS13A):c.*409A>G
|
rs975807327
|
|
NM_033305.3(VPS13A):c.*694C>A
|
rs115104076
|
|
NM_033305.3(VPS13A):c.*774_*776del
|
rs549219168
|
|
NM_033305.3(VPS13A):c.*81A>G
|
rs1057515661
|
|
NM_033305.3(VPS13A):c.*990T>A
|
rs1203318328
|
|
NM_033305.3(VPS13A):c.-16A>T
|
rs372360076
|
|
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=)
|
rs774931205
|
|
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg)
|
rs550188251
|
|
NM_033305.3(VPS13A):c.1596-10_1596-8del
|
rs748907586
|
|
NM_033305.3(VPS13A):c.159A>G (p.Val53=)
|
rs1057515645
|
|
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg)
|
rs1057515651
|
|
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu)
|
rs759600403
|
|
NM_033305.3(VPS13A):c.1900+9C>T
|
rs773690202
|
|
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His)
|
rs1389344705
|
|
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu)
|
rs1057515652
|
|
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met)
|
rs1826457641
|
|
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn)
|
rs1826653395
|
|
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp)
|
rs757651034
|
|
NM_033305.3(VPS13A):c.283+20del
|
rs199782752
|
|
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=)
|
rs1826936558
|
|
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala)
|
rs1248091059
|
|
NM_033305.3(VPS13A):c.295_297del (p.Asp99del)
|
rs759258746
|
|
NM_033305.3(VPS13A):c.3340-5_3340-3del
|
rs746510956
|
|
NM_033305.3(VPS13A):c.3961-6del
|
rs3216012
|
|
NM_033305.3(VPS13A):c.3961-6dup
|
rs3216012
|
|
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn)
|
rs1392223813
|
|
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys)
|
rs1829245513
|
|
NM_033305.3(VPS13A):c.496-9C>T
|
rs370541609
|
|
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val)
|
rs1829532129
|
|
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=)
|
rs1829726014
|
|
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=)
|
rs370144264
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp)
|
rs1826073644
|
|
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=)
|
rs1057515657
|
|
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val)
|
rs1287394997
|
|
NM_033305.3(VPS13A):c.6880-6dup
|
rs140476942
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser)
|
rs760875004
|
|
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala)
|
rs1057515659
|
|
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His)
|
rs774310423
|
|
NM_033305.3(VPS13A):c.8472-11G>T
|
rs1281741862
|
|
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val)
|
rs1057515660
|
|
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter)
|
rs773932109
|
|
NM_033305.3(VPS13A):c.989+28del
|
rs751974264
|
|
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)
|
rs757651957
|
|
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile)
|
rs558404718
|
|
NM_153638.4(PANK2):c.54A>G (p.Ser18=)
|
rs886056650
|
|
NM_173500.4(TTBK2):c.*507T>G
|
rs886051162
|
|
NM_173500.4(TTBK2):c.*548C>T
|
rs1782579071
|
|
NM_173500.4(TTBK2):c.*604T>C
|
rs886051161
|
|
NM_173500.4(TTBK2):c.*690dup
|
rs886051160
|
|
NM_173500.4(TTBK2):c.*953A>G
|
rs934539405
|
|
NM_173500.4(TTBK2):c.-125C>G
|
rs1428784964
|
|
NM_173500.4(TTBK2):c.-281GCC[5]
|
rs377202784
|
|
NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys)
|
rs1889967626
|
|
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.2928A>T (p.Pro976=)
|
rs1567000293
|
|
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)
|
rs377620628
|
|
NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)
|
rs2061791617
|
|
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)
|
rs563297091
|
|
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)
|
rs933067569
|
|
NM_198994.3(TGM6):c.-36T>C
|
rs371018532
|
|
NM_198994.3(TGM6):c.-5T>A
|
rs886056550
|
|
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val)
|
rs552530897
|
|
NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys)
|
rs267605859
|
|
NM_198994.3(TGM6):c.1653C>T (p.His551=)
|
rs755072071
|
|
NM_198994.3(TGM6):c.1678+11G>T
|
rs376838053
|
|
NM_198994.3(TGM6):c.1678+12C>A
|
rs1171960882
|
|
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup)
|
rs557817405
|
|
NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser)
|
rs76002756
|
|
NM_198994.3(TGM6):c.303C>T (p.Leu101=)
|
rs757250219
|
|
NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr)
|
rs748573955
|
|
NM_198994.3(TGM6):c.95T>G (p.Val32Gly)
|
rs886056551
|
|