NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93729
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
NM_024306.5(FA2H):c.879C>T (p.Pro293=)
|
rs2301865
|
0.77852
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
NM_144599.5(NIPA1):c.441A>G (p.Thr147=)
|
rs11263683
|
0.65973
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_004722.4(AP4M1):c.462+34G>A
|
rs999885
|
0.46041
|
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353
|
0.45235
|
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401
|
0.42071
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39011
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_024306.5(FA2H):c.229C>T (p.Leu77=)
|
rs929881
|
0.33281
|
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=)
|
rs8107538
|
0.26133
|
NM_004984.4(KIF5A):c.36+5C>T
|
rs775249
|
0.25100
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
NM_015087.5(SPART):c.1629A>G (p.Ala543=)
|
rs2274293
|
0.23882
|
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=)
|
rs17135121
|
0.22358
|
NM_001244008.2(KIF1A):c.3641-8C>T
|
rs56024577
|
0.22160
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
|
rs35014209
|
0.18809
|
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met)
|
rs2306899
|
0.17541
|
NM_002156.5(HSPD1):c.69T>C (p.Thr23=)
|
rs1050347
|
0.16721
|
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_024306.5(FA2H):c.888A>G (p.Val296=)
|
rs11554621
|
0.15840
|
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)
|
rs11542889
|
0.14383
|
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)
|
rs7143196
|
0.14152
|
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)
|
rs2292954
|
0.12849
|
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)
|
rs12960
|
0.12801
|
NM_024306.5(FA2H):c.1039+8T>C
|
rs6564160
|
0.09790
|
NM_001351169.2(NT5C2):c.*313C>G
|
rs10786736
|
0.09743
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_024306.5(FA2H):c.933T>C (p.Tyr311=)
|
rs11554620
|
0.08207
|
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=)
|
rs591040
|
0.07584
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_020435.4(GJC2):c.*157G>A
|
rs45491398
|
0.05934
|
NM_001278116.2(L1CAM):c.2209-6C>T
|
rs7885771
|
0.05725
|
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)
|
rs11772411
|
0.05021
|
NM_020435.4(GJC2):c.966G>C (p.Ala322=)
|
rs4653910
|
0.05014
|
NM_014855.3(AP5Z1):c.1131C>T (p.His377=)
|
rs11768079
|
0.04978
|
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)
|
rs3742884
|
0.04741
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
NM_001244008.2(KIF1A):c.4319-8C>T
|
rs1529663
|
0.04602
|
NM_024989.4(PGAP1):c.1862-3C>T
|
rs73988069
|
0.04584
|
NM_014946.4(SPAST):c.*98A>G
|
rs56272862
|
0.04503
|
NM_001278116.2(L1CAM):c.*383C>T
|
rs41311708
|
0.04318
|
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)
|
rs72554624
|
0.04177
|
NM_014844.5(TECPR2):c.1614A>G (p.Pro538=)
|
rs17791240
|
0.04164
|
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser)
|
rs2273906
|
0.04157
|
NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr)
|
rs11845676
|
0.04113
|
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)
|
rs112787369
|
0.03993
|
NM_006612.6(KIF1C):c.1656A>G (p.Pro552=)
|
rs57144955
|
0.03773
|
NM_006612.6(KIF1C):c.2298C>T (p.His766=)
|
rs73345356
|
0.03703
|
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)
|
rs61744930
|
0.03600
|
NM_015346.4(ZFYVE26):c.3757C>T (p.Leu1253=)
|
rs34296097
|
0.03528
|
NM_020919.4(ALS2):c.280A>G (p.Ile94Val)
|
rs3219154
|
0.03476
|
NM_002860.4(ALDH18A1):c.-79A>G
|
rs117502632
|
0.03469
|
NM_001278116.2(L1CAM):c.1268-10C>T
|
rs112841948
|
0.03467
|
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)
|
rs11541780
|
0.03433
|
NM_020944.3(GBA2):c.1795+7G>A
|
rs73438754
|
0.03415
|
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)
|
rs17104689
|
0.03409
|
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=)
|
rs35945835
|
0.03379
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=)
|
rs522776
|
0.03285
|
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)
|
rs45467297
|
0.03285
|
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)
|
rs1042512
|
0.03189
|
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)
|
rs34373049
|
0.03090
|
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)
|
rs34751342
|
0.03013
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)
|
rs1804934
|
0.02975
|
NM_015346.4(ZFYVE26):c.-70A>T
|
rs17192296
|
0.02937
|
NM_003119.4(SPG7):c.2292C>T (p.Ile764=)
|
rs61747711
|
0.02864
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
NM_014846.4(WASHC5):c.1408+7A>G
|
rs16900312
|
0.02845
|
NM_014846.4(WASHC5):c.1151-8G>A
|
rs16900335
|
0.02839
|
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)
|
rs10429323
|
0.02837
|
NM_006459.4(ERLIN1):c.*213A>G
|
rs3802528
|
0.02723
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)
|
rs59035258
|
0.02701
|
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)
|
rs34946105
|
0.02614
|
NM_015346.4(ZFYVE26):c.2332+7del
|
rs145183291
|
0.02598
|
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=)
|
rs16887018
|
0.02568
|
NM_183075.3(CYP2U1):c.*31A>G
|
rs79009744
|
0.02566
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_020435.4(GJC2):c.594C>T (p.His198=)
|
rs116557768
|
0.02483
|
NM_020435.4(GJC2):c.*95G>A
|
rs1052534
|
0.02481
|
NM_015915.5(ATL1):c.705C>T (p.Phe235=)
|
rs35044504
|
0.02457
|
NM_014844.5(TECPR2):c.-2C>T
|
rs17100874
|
0.02432
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_014846.4(WASHC5):c.597A>G (p.Pro199=)
|
rs7812319
|
0.02380
|
NM_024989.4(PGAP1):c.534T>G (p.Leu178=)
|
rs35444896
|
0.02335
|
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met)
|
rs35471427
|
0.02295
|
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=)
|
rs77560694
|
0.02284
|
NM_001371279.1(REEP1):c.*94T>C
|
rs141976852
|
0.02270
|
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)
|
rs41291566
|
0.02201
|
NM_004820.5(CYP7B1):c.*337T>G
|
rs118000312
|
0.02195
|
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=)
|
rs2241683
|
0.02108
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.02064
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)
|
rs35732838
|
0.01999
|
NM_004733.4(SLC33A1):c.327A>G (p.Gln109=)
|
rs74578336
|
0.01921
|
NM_015346.4(ZFYVE26):c.6921C>T (p.Ser2307=)
|
rs35917338
|
0.01911
|
NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys)
|
rs73296180
|
0.01877
|
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)
|
rs4134932
|
0.01854
|
NM_007347.5(AP4E1):c.2905-8A>G
|
rs56813592
|
0.01851
|
NM_015346.4(ZFYVE26):c.7407T>C (p.Asp2469=)
|
rs35106153
|
0.01846
|
NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile)
|
rs3793744
|
0.01829
|
NM_003119.4(SPG7):c.1770C>T (p.Ala590=)
|
rs60488729
|
0.01823
|
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met)
|
rs11766611
|
0.01795
|
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=)
|
rs35664935
|
0.01793
|
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)
|
rs35663732
|
0.01790
|
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
|
rs78651634
|
0.01784
|
NM_003119.4(SPG7):c.2037G>A (p.Ala679=)
|
rs79756036
|
0.01778
|
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)
|
rs5987173
|
0.01697
|
NM_014855.3(AP5Z1):c.*2197A>G
|
rs187056670
|
0.01683
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_014844.5(TECPR2):c.1802C>T (p.Pro601Leu)
|
rs118141823
|
0.01676
|
NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)
|
rs41265953
|
0.01623
|
NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=)
|
rs34852231
|
0.01623
|
NM_015346.4(ZFYVE26):c.6987-3C>T
|
rs76728509
|
0.01610
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln)
|
rs77890266
|
0.01561
|
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)
|
rs11549840
|
0.01556
|
NM_014855.3(AP5Z1):c.*1594C>A
|
rs138654444
|
0.01555
|
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)
|
rs117666541
|
0.01551
|
NM_014855.3(AP5Z1):c.*856G>A
|
rs148032002
|
0.01546
|
NM_183075.3(CYP2U1):c.490+6C>T
|
rs147612190
|
0.01512
|
NM_006612.6(KIF1C):c.1293G>A (p.Thr431=)
|
rs35919356
|
0.01482
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn)
|
rs115332491
|
0.01470
|
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)
|
rs114201291
|
0.01466
|
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)
|
rs58909326
|
0.01464
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)
|
rs35749032
|
0.01431
|
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)
|
rs116297894
|
0.01425
|
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser)
|
rs79325774
|
0.01424
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys)
|
rs62000389
|
0.01415
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01390
|
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=)
|
rs77393809
|
0.01379
|
NM_016630.7(SPG21):c.843C>T (p.Tyr281=)
|
rs147428832
|
0.01378
|
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)
|
rs149815494
|
0.01375
|
NM_002156.5(HSPD1):c.428-10G>A
|
rs111401572
|
0.01367
|
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)
|
rs11549839
|
0.01367
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507
|
0.01328
|
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)
|
rs112732576
|
0.01318
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_001160148.2(DDHD1):c.136G>A (p.Gly46Ser)
|
rs61985140
|
0.01292
|
NM_001122955.4(BSCL2):c.88-662C>A
|
rs117597269
|
0.01291
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_003119.4(SPG7):c.9G>T (p.Val3=)
|
rs553241838
|
0.01255
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)
|
rs113247976
|
0.01241
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
NM_020435.4(GJC2):c.108C>T (p.Ile36=)
|
rs75469429
|
0.01203
|
NM_024989.3(PGAP1):c.-94G>A
|
rs186535521
|
0.01160
|
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=)
|
rs113264142
|
0.01159
|
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys)
|
rs115454162
|
0.01129
|
NM_003119.4(SPG7):c.2295C>T (p.Asp765=)
|
rs61747712
|
0.01110
|
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)
|
rs74459402
|
0.01097
|
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)
|
rs35902890
|
0.01086
|
NM_001166114.2(PNPLA6):c.3094-5C>T
|
rs116788699
|
0.01066
|
NM_003119.4(SPG7):c.2280G>A (p.Pro760=)
|
rs11559075
|
0.01053
|
NM_006612.6(KIF1C):c.1166-8C>T
|
rs114935927
|
0.01049
|
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)
|
rs17850455
|
0.01048
|
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=)
|
rs35151382
|
0.01040
|
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=)
|
rs369603991
|
0.01028
|
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)
|
rs62637652
|
0.00997
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_014855.3(AP5Z1):c.1708-5C>T
|
rs184752711
|
0.00977
|
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)
|
rs61746722
|
0.00962
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)
|
rs116807842
|
0.00956
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_014946.4(SPAST):c.879G>A (p.Pro293=)
|
rs145264166
|
0.00943
|
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=)
|
rs62111288
|
0.00930
|
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=)
|
rs112133109
|
0.00930
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)
|
rs117228915
|
0.00888
|
NM_014844.5(TECPR2):c.952-5G>A
|
rs55716270
|
0.00869
|
NM_001244008.2(KIF1A):c.184-10C>T
|
rs7594776
|
0.00865
|
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)
|
rs76974316
|
0.00862
|
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)
|
rs143382184
|
0.00854
|
NM_005619.5(RTN2):c.51A>G (p.Thr17=)
|
rs117156117
|
0.00852
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)
|
rs117367857
|
0.00826
|
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)
|
rs760502262
|
0.00823
|
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)
|
rs61732733
|
0.00809
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)
|
rs61742500
|
0.00776
|
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)
|
rs61742502
|
0.00775
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)
|
rs140540720
|
0.00750
|
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=)
|
rs113335442
|
0.00745
|
NM_020944.3(GBA2):c.946G>A (p.Gly316Arg)
|
rs113785628
|
0.00736
|
NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)
|
rs147135152
|
0.00727
|
NM_005619.5(RTN2):c.1593C>T (p.Ala531=)
|
rs148630935
|
0.00720
|
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)
|
rs34952009
|
0.00716
|
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=)
|
rs184931664
|
0.00715
|
NM_006612.6(KIF1C):c.1751-7T>A
|
rs148404628
|
0.00709
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
NM_005619.5(RTN2):c.792C>A (p.Phe264Leu)
|
rs61745812
|
0.00699
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe)
|
rs17502618
|
0.00682
|
NM_014855.3(AP5Z1):c.-3G>A
|
rs142983676
|
0.00667
|
NM_004722.4(AP4M1):c.228C>T (p.Pro76=)
|
rs41280965
|
0.00663
|
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)
|
rs140843407
|
0.00656
|
NM_015046.7(SETX):c.1968A>G (p.Val656=)
|
rs113997459
|
0.00654
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_020944.3(GBA2):c.1037C>T (p.Thr346Met)
|
rs34353044
|
0.00613
|
NM_001160148.2(DDHD1):c.453G>A (p.Pro151=)
|
rs141323589
|
0.00610
|
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)
|
rs116890187
|
0.00606
|
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr)
|
rs183580097
|
0.00602
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_002156.5(HSPD1):c.144C>T (p.Ala48=)
|
rs11551346
|
0.00595
|
NM_014855.3(AP5Z1):c.791-5C>T
|
rs73671921
|
0.00595
|
NM_001253852.3(AP4B1):c.1793-9C>G
|
rs17031980
|
0.00589
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
NM_002860.4(ALDH18A1):c.*140C>T
|
rs76824727
|
0.00570
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
NM_014855.3(AP5Z1):c.-1G>C
|
rs146143723
|
0.00560
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_005619.5(RTN2):c.444C>G (p.Gly148=)
|
rs139232850
|
0.00550
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_007347.5(AP4E1):c.171G>A (p.Gln57=)
|
rs28463775
|
0.00543
|
NM_015915.5(ATL1):c.1230G>A (p.Gly410=)
|
rs148548325
|
0.00531
|
NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile)
|
rs138935423
|
0.00523
|
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)
|
rs75430389
|
0.00523
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg)
|
rs143198225
|
0.00510
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)
|
rs115188375
|
0.00503
|
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)
|
rs35110478
|
0.00499
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00490
|
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)
|
rs116796602
|
0.00488
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
NM_015346.4(ZFYVE26):c.6588+7C>T
|
rs186040735
|
0.00471
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_004733.4(SLC33A1):c.1482+7A>G
|
rs149522913
|
0.00458
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_005619.5(RTN2):c.351A>G (p.Gln117=)
|
rs144028452
|
0.00450
|
NM_006612.6(KIF1C):c.1165+4G>A
|
rs192489748
|
0.00449
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)
|
rs145182838
|
0.00445
|
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr)
|
rs79915936
|
0.00444
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_001371279.1(REEP1):c.486C>T (p.Asp162=)
|
rs139806812
|
0.00425
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
NM_015214.3(DDHD2):c.912T>A (p.Ile304=)
|
rs139393309
|
0.00410
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
NM_152415.3(VPS37A):c.24C>T (p.Thr8=)
|
rs146098391
|
0.00409
|
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)
|
rs34030828
|
0.00408
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00406
|
NM_014363.6(SACS):c.*821A>G
|
rs145184122
|
0.00401
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)
|
rs78356534
|
0.00398
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)
|
rs72700618
|
0.00388
|
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)
|
rs56031686
|
0.00386
|
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln)
|
rs186993311
|
0.00386
|
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)
|
rs142056835
|
0.00379
|
NM_007215.4(POLG2):c.397C>T (p.His133Tyr)
|
rs112984118
|
0.00371
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe)
|
rs116185336
|
0.00363
|
NM_002156.5(HSPD1):c.1216-9C>T
|
rs189395138
|
0.00361
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)
|
rs141644282
|
0.00358
|
NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp)
|
rs150361106
|
0.00358
|
NM_014846.4(WASHC5):c.2100G>A (p.Val700=)
|
rs148936723
|
0.00357
|
NM_025137.4(SPG11):c.64A>G (p.Met22Val)
|
rs34255962
|
0.00354
|
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)
|
rs144007962
|
0.00349
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)
|
rs201687417
|
0.00341
|
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
|
rs148934699
|
0.00336
|
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)
|
rs3219155
|
0.00334
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr)
|
rs144147210
|
0.00331
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_001244008.2(KIF1A):c.183+7C>T
|
rs74469870
|
0.00324
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=)
|
rs138164407
|
0.00311
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly)
|
rs148664622
|
0.00300
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)
|
rs143981992
|
0.00291
|
NM_007347.5(AP4E1):c.852A>G (p.Leu284=)
|
rs114575519
|
0.00287
|
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=)
|
rs147784739
|
0.00286
|
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)
|
rs138525017
|
0.00283
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
NM_006612.6(KIF1C):c.153C>T (p.Thr51=)
|
rs147583562
|
0.00277
|
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)
|
rs148552744
|
0.00276
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
NM_015915.5(ATL1):c.621G>A (p.Lys207=)
|
rs35629585
|
0.00263
|
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)
|
rs73023451
|
0.00262
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_006612.6(KIF1C):c.*61G>A
|
rs146218874
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_014363.6(SACS):c.2721G>A (p.Leu907=)
|
rs140118958
|
0.00255
|
NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser)
|
rs148536791
|
0.00254
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)
|
rs17687375
|
0.00252
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)
|
rs35512910
|
0.00250
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00246
|
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)
|
rs149584733
|
0.00245
|
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
|
rs143937661
|
0.00242
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_015346.4(ZFYVE26):c.7417-5G>C
|
rs201771769
|
0.00236
|
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu)
|
rs61751983
|
0.00235
|
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser)
|
rs150026441
|
0.00235
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)
|
rs76327447
|
0.00220
|
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)
|
rs188353745
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile)
|
rs142676629
|
0.00214
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)
|
rs140783695
|
0.00209
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln)
|
rs141225452
|
0.00204
|
NM_015346.4(ZFYVE26):c.453C>T (p.Ser151=)
|
rs75391113
|
0.00203
|
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
|
rs191971593
|
0.00201
|
NM_015346.4(ZFYVE26):c.1933A>G (p.Met645Val)
|
rs77129887
|
0.00201
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_020944.3(GBA2):c.326G>A (p.Ser109Asn)
|
rs140988229
|
0.00197
|
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)
|
rs143815273
|
0.00194
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)
|
rs139279302
|
0.00192
|
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)
|
rs141944844
|
0.00192
|
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)
|
rs149571533
|
0.00190
|
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)
|
rs144015992
|
0.00190
|
NM_004722.4(AP4M1):c.*23C>T
|
rs189536527
|
0.00184
|
NM_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848
|
0.00180
|
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
|
rs146398746
|
0.00180
|
NM_001776.5(ENTPD1):c.-86A>C
|
rs75902129
|
0.00179
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_014844.4(TECPR2):c.-260C>T
|
rs572588758
|
0.00178
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)
|
rs535692203
|
0.00168
|
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly)
|
rs149276487
|
0.00166
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)
|
rs118037269
|
0.00157
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
NM_152415.3(VPS37A):c.125+8G>A
|
rs145945235
|
0.00156
|
NM_002156.5(HSPD1):c.561T>C (p.Ser187=)
|
rs141357756
|
0.00155
|
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)
|
rs148601288
|
0.00153
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)
|
rs200545714
|
0.00152
|
NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=)
|
rs138906273
|
0.00150
|
NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)
|
rs200184619
|
0.00150
|
NM_006594.5(AP4B1):c.-77+5G>A
|
rs28364563
|
0.00149
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_002156.5(HSPD1):c.700+8C>T
|
rs185384719
|
0.00143
|
NM_014844.5(TECPR2):c.4081+8C>A
|
rs199845217
|
0.00143
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu)
|
rs148477072
|
0.00141
|
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=)
|
rs143914980
|
0.00136
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=)
|
rs139314486
|
0.00134
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)
|
rs143286419
|
0.00130
|
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)
|
rs139163400
|
0.00130
|
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)
|
rs80242901
|
0.00128
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)
|
rs147506864
|
0.00122
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
NM_006612.6(KIF1C):c.885G>A (p.Ser295=)
|
rs148489739
|
0.00117
|
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)
|
rs202232792
|
0.00115
|
NM_015346.4(ZFYVE26):c.5799C>T (p.Ser1933=)
|
rs145858625
|
0.00115
|
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)
|
rs72700613
|
0.00114
|
NM_014844.5(TECPR2):c.762G>A (p.Thr254=)
|
rs138070234
|
0.00114
|
NM_014855.3(AP5Z1):c.1062C>T (p.His354=)
|
rs192441133
|
0.00114
|
NM_015087.5(SPART):c.75A>G (p.Leu25=)
|
rs148399669
|
0.00113
|
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)
|
rs147494935
|
0.00113
|
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)
|
rs144816455
|
0.00112
|
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=)
|
rs370926189
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)
|
rs148817957
|
0.00109
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)
|
rs146872023
|
0.00108
|
NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=)
|
rs148176695
|
0.00106
|
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)
|
rs182411153
|
0.00105
|
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)
|
rs200243306
|
0.00105
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00104
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_004984.4(KIF5A):c.714+8G>A
|
rs199624091
|
0.00101
|
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)
|
rs113155897
|
0.00100
|
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00100
|
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
|
rs143144795
|
0.00099
|
NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)
|
rs367621941
|
0.00096
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
NM_015046.7(SETX):c.2124T>C (p.Ser708=)
|
rs139236924
|
0.00093
|
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)
|
rs371534878
|
0.00092
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys)
|
rs41309046
|
0.00090
|
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=)
|
rs199903577
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser)
|
rs148983337
|
0.00086
|
NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=)
|
rs149326648
|
0.00085
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)
|
rs142883889
|
0.00081
|
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)
|
rs140411575
|
0.00081
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_014846.4(WASHC5):c.732G>A (p.Pro244=)
|
rs146320386
|
0.00079
|
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)
|
rs201196622
|
0.00079
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_021830.5(TWNK):c.1596C>T (p.Ile532=)
|
rs146690237
|
0.00078
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
NM_004984.4(KIF5A):c.2199-4G>A
|
rs201366820
|
0.00077
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_020944.3(GBA2):c.1358C>A (p.Ala453Glu)
|
rs78197987
|
0.00075
|
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)
|
rs147632811
|
0.00075
|
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)
|
rs140281678
|
0.00074
|
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)
|
rs144016130
|
0.00073
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)
|
rs372922535
|
0.00073
|
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly)
|
rs113184057
|
0.00073
|
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp)
|
rs374146548
|
0.00072
|
NM_015087.5(SPART):c.363C>T (p.Asp121=)
|
rs149393698
|
0.00072
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_024306.5(FA2H):c.537G>A (p.Leu179=)
|
rs75711361
|
0.00068
|
NM_003119.4(SPG7):c.199C>T (p.Leu67=)
|
rs148315471
|
0.00066
|
NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)
|
rs150893861
|
0.00066
|
NM_001166114.2(PNPLA6):c.3252C>T (p.Thr1084=)
|
rs151001271
|
0.00065
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)
|
rs200280538
|
0.00065
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=)
|
rs117336150
|
0.00065
|
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)
|
rs138837774
|
0.00064
|
NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)
|
rs138895639
|
0.00064
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)
|
rs138023728
|
0.00061
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_014844.5(TECPR2):c.606T>C (p.Ser202=)
|
rs140791062
|
0.00061
|
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)
|
rs572271008
|
0.00060
|
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)
|
rs150772804
|
0.00059
|
NM_002156.5(HSPD1):c.18A>G (p.Thr6=)
|
rs79630442
|
0.00059
|
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)
|
rs146975855
|
0.00059
|
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr)
|
rs143671350
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr)
|
rs534573391
|
0.00058
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)
|
rs187442951
|
0.00053
|
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)
|
rs141754568
|
0.00053
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
NM_007347.5(AP4E1):c.613C>A (p.His205Asn)
|
rs148499164
|
0.00052
|
NM_014855.3(AP5Z1):c.970-5C>T
|
rs373671779
|
0.00052
|
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)
|
rs34778731
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)
|
rs77170608
|
0.00051
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg)
|
rs200894732
|
0.00051
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)
|
rs201825284
|
0.00048
|
NM_001776.6(ENTPD1):c.1333G>C (p.Gly445Arg)
|
rs145994698
|
0.00048
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_020944.3(GBA2):c.1688-8T>C
|
rs754147042
|
0.00047
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)
|
rs377507553
|
0.00046
|
NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)
|
rs139107571
|
0.00046
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_001244008.2(KIF1A):c.1341+7G>T
|
rs184947396
|
0.00044
|
NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe)
|
rs547137141
|
0.00044
|
NM_016630.7(SPG21):c.846G>A (p.Ala282=)
|
rs146986015
|
0.00044
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
NM_020944.3(GBA2):c.2201G>A (p.Arg734His)
|
rs142621039
|
0.00042
|
NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg)
|
rs75004775
|
0.00041
|
NM_015915.5(ATL1):c.408T>C (p.Asp136=)
|
rs76375909
|
0.00041
|
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)
|
rs147312612
|
0.00041
|
NM_006459.4(ERLIN1):c.195+3G>A
|
rs201208911
|
0.00040
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)
|
rs145062338
|
0.00038
|
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn)
|
rs144849839
|
0.00038
|
NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp)
|
rs199760184
|
0.00038
|
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)
|
rs201047107
|
0.00037
|
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)
|
rs145650252
|
0.00037
|
NM_024989.4(PGAP1):c.927+4T>C
|
rs201984003
|
0.00037
|
NM_007215.4(POLG2):c.315G>A (p.Glu105=)
|
rs142121495
|
0.00036
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu)
|
rs145943165
|
0.00036
|
NM_015214.3(DDHD2):c.864A>C (p.Ile288=)
|
rs148904419
|
0.00036
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser)
|
rs67967266
|
0.00035
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_004984.4(KIF5A):c.471C>T (p.His157=)
|
rs143178113
|
0.00034
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_015214.3(DDHD2):c.1720+6T>A
|
rs189360898
|
0.00034
|
NM_015346.4(ZFYVE26):c.624T>C (p.Asp208=)
|
rs140128583
|
0.00034
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe)
|
rs141818342
|
0.00033
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)
|
rs150472102
|
0.00032
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr)
|
rs139247564
|
0.00032
|
NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly)
|
rs79290524
|
0.00031
|
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr)
|
rs185185243
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
NM_016630.7(SPG21):c.771A>C (p.Pro257=)
|
rs141785149
|
0.00031
|
NM_152269.5(MTRFR):c.54G>A (p.Pro18=)
|
rs188310109
|
0.00031
|
NM_001278116.2(L1CAM):c.1547-4T>A
|
rs200148275
|
0.00030
|
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)
|
rs368571200
|
0.00030
|
NM_144599.5(NIPA1):c.21A>G (p.Ala7=)
|
rs749414711
|
0.00030
|
NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=)
|
rs143972053
|
0.00029
|
NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=)
|
rs371690344
|
0.00029
|
NM_015214.3(DDHD2):c.558G>A (p.Thr186=)
|
rs149994413
|
0.00029
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_020944.3(GBA2):c.1395G>A (p.Pro465=)
|
rs149501146
|
0.00027
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)
|
rs367640165
|
0.00026
|
NM_021830.5(TWNK):c.689G>T (p.Gly230Val)
|
rs142978552
|
0.00026
|
NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=)
|
rs534516510
|
0.00025
|
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)
|
rs375363608
|
0.00025
|
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val)
|
rs147962000
|
0.00025
|
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=)
|
rs200792120
|
0.00024
|
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)
|
rs144507279
|
0.00024
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)
|
rs553088930
|
0.00023
|
NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=)
|
rs202049905
|
0.00023
|
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)
|
rs147738731
|
0.00023
|
NM_004722.4(AP4M1):c.380C>T (p.Thr127Met)
|
rs147261925
|
0.00023
|
NM_007215.4(POLG2):c.457C>G (p.Leu153Val)
|
rs149446102
|
0.00023
|
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=)
|
rs376614211
|
0.00023
|
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)
|
rs774921196
|
0.00023
|
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
NM_006612.6(KIF1C):c.18G>A (p.Val6=)
|
rs148361794
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln)
|
rs199981070
|
0.00022
|
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)
|
rs199996308
|
0.00021
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
NM_002693.3(POLG):c.2369G>A (p.Arg790His)
|
rs191490663
|
0.00021
|
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
NM_015046.7(SETX):c.1392A>G (p.Ser464=)
|
rs144164119
|
0.00021
|
NM_015214.3(DDHD2):c.411+6C>T
|
rs562827417
|
0.00021
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
NM_152415.3(VPS37A):c.418C>T (p.Leu140=)
|
rs143689645
|
0.00021
|
NM_183075.3(CYP2U1):c.639C>T (p.His213=)
|
rs147256952
|
0.00021
|
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=)
|
rs139168020
|
0.00020
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
NM_020944.3(GBA2):c.964C>T (p.Leu322=)
|
rs150861266
|
0.00020
|
NM_001244008.2(KIF1A):c.882+8G>A
|
rs376552408
|
0.00019
|
NM_001351169.2(NT5C2):c.540-4G>A
|
rs201261415
|
0.00019
|
NM_001776.6(ENTPD1):c.1149T>A (p.Thr383=)
|
rs779049792
|
0.00019
|
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=)
|
rs147057295
|
0.00019
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
NM_015214.3(DDHD2):c.1345G>T (p.Gly449Cys)
|
rs199730711
|
0.00019
|
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)
|
rs200340910
|
0.00019
|
NM_020919.4(ALS2):c.2979+8T>C
|
rs373602123
|
0.00019
|
NM_025137.4(SPG11):c.2897G>A (p.Arg966His)
|
rs200281262
|
0.00019
|
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=)
|
rs370913170
|
0.00018
|
NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys)
|
rs62072492
|
0.00018
|
NM_014946.4(SPAST):c.1617-3C>T
|
rs201212542
|
0.00018
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00018
|
NM_001776.6(ENTPD1):c.424G>C (p.Glu142Gln)
|
rs148809600
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)
|
rs199689138
|
0.00017
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)
|
rs367867460
|
0.00017
|
NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)
|
rs139004425
|
0.00017
|
NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser)
|
rs371611090
|
0.00017
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)
|
rs149466797
|
0.00016
|
NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr)
|
rs201793635
|
0.00016
|
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)
|
rs201139273
|
0.00016
|
NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met)
|
rs146889178
|
0.00016
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
NM_004984.4(KIF5A):c.2040G>A (p.Val680=)
|
rs117670788
|
0.00016
|
NM_004984.4(KIF5A):c.292-5G>A
|
rs201917057
|
0.00016
|
NM_006612.6(KIF1C):c.1563C>T (p.Gly521=)
|
rs376123205
|
0.00016
|
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)
|
rs148101254
|
0.00016
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln)
|
rs774461879
|
0.00016
|
NM_015915.5(ATL1):c.991-6T>G
|
rs192428744
|
0.00016
|
NM_020919.4(ALS2):c.1578A>G (p.Thr526=)
|
rs147284131
|
0.00016
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)
|
rs138036688
|
0.00016
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
NM_014855.3(AP5Z1):c.1567C>T (p.Arg523Cys)
|
rs201067711
|
0.00015
|
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)
|
rs200617745
|
0.00015
|
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His)
|
rs201677317
|
0.00015
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
NM_020944.3(GBA2):c.659G>A (p.Gly220Asp)
|
rs145436860
|
0.00015
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
NM_144599.5(NIPA1):c.681C>T (p.Leu227=)
|
rs200282898
|
0.00015
|
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
|
rs190842600
|
0.00014
|
NM_001166114.2(PNPLA6):c.3997G>A (p.Ala1333Thr)
|
rs143280550
|
0.00014
|
NM_001776.6(ENTPD1):c.834C>T (p.Leu278=)
|
rs780370619
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)
|
rs139801016
|
0.00014
|
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)
|
rs550136320
|
0.00014
|
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)
|
rs150615169
|
0.00014
|
NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met)
|
rs140963558
|
0.00014
|
NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)
|
rs201121892
|
0.00014
|
NM_015346.4(ZFYVE26):c.5927C>T (p.Thr1976Met)
|
rs149744465
|
0.00014
|
NM_020944.3(GBA2):c.1848T>C (p.Asp616=)
|
rs766509602
|
0.00014
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr)
|
rs200126737
|
0.00013
|
NM_006459.4(ERLIN1):c.762C>A (p.Ala254=)
|
rs143495333
|
0.00013
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)
|
rs762665640
|
0.00013
|
NM_014844.5(TECPR2):c.3466G>A (p.Ala1156Thr)
|
rs200844941
|
0.00013
|
NM_014946.4(SPAST):c.-7G>A
|
rs376165443
|
0.00013
|
NM_015046.7(SETX):c.3555G>A (p.Gln1185=)
|
rs762171056
|
0.00013
|
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)
|
rs199794711
|
0.00013
|
NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile)
|
rs374109524
|
0.00013
|
NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=)
|
rs201242759
|
0.00012
|
NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val)
|
rs201704673
|
0.00012
|
NM_014844.5(TECPR2):c.4014C>T (p.Gly1338=)
|
rs372319066
|
0.00012
|
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)
|
rs200456170
|
0.00012
|
NM_014855.3(AP5Z1):c.343G>C (p.Val115Leu)
|
rs760484894
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_024989.4(PGAP1):c.1638A>G (p.Glu546=)
|
rs142482606
|
0.00012
|
NM_025137.4(SPG11):c.256C>G (p.His86Asp)
|
rs773123413
|
0.00012
|
NM_001122955.4(BSCL2):c.1234+7G>A
|
rs200631909
|
0.00011
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=)
|
rs143060121
|
0.00011
|
NM_002156.5(HSPD1):c.1488A>G (p.Gln496=)
|
rs142434256
|
0.00011
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
NM_003119.4(SPG7):c.250T>C (p.Leu84=)
|
rs138965309
|
0.00011
|
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=)
|
rs148434838
|
0.00011
|
NM_007347.5(AP4E1):c.1105A>C (p.Thr369Pro)
|
rs149682827
|
0.00011
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
NM_014844.5(TECPR2):c.1125C>T (p.Val375=)
|
rs144187959
|
0.00011
|
NM_014844.5(TECPR2):c.818G>A (p.Arg273His)
|
rs144069125
|
0.00011
|
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)
|
rs141234822
|
0.00011
|
NM_015087.5(SPART):c.1689C>T (p.Ile563=)
|
rs201030352
|
0.00011
|
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)
|
rs749719250
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys)
|
rs373236811
|
0.00010
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)
|
rs147673636
|
0.00010
|
NM_004820.5(CYP7B1):c.122+9C>T
|
rs968898541
|
0.00010
|
NM_004820.5(CYP7B1):c.850+5G>C
|
rs202155727
|
0.00010
|
NM_006612.6(KIF1C):c.339A>G (p.Pro113=)
|
rs142773987
|
0.00010
|
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
|
rs147517201
|
0.00010
|
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys)
|
rs145463842
|
0.00010
|
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=)
|
rs777143531
|
0.00010
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu)
|
rs372193709
|
0.00009
|
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)
|
rs371831198
|
0.00009
|
NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe)
|
rs147573619
|
0.00009
|
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=)
|
rs137967792
|
0.00009
|
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)
|
rs201081454
|
0.00009
|
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)
|
rs149737236
|
0.00009
|
NM_001351169.2(NT5C2):c.1564C>T (p.His522Tyr)
|
rs368467266
|
0.00009
|
NM_002860.4(ALDH18A1):c.1248G>A (p.Gly416=)
|
rs757733068
|
0.00009
|
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile)
|
rs142746793
|
0.00009
|
NM_004722.4(AP4M1):c.1293C>T (p.Cys431=)
|
rs151301464
|
0.00009
|
NM_004733.4(SLC33A1):c.1559T>C (p.Ile520Thr)
|
rs777143987
|
0.00009
|
NM_005619.5(RTN2):c.1210G>A (p.Val404Met)
|
rs200512597
|
0.00009
|
NM_006517.5(SLC16A2):c.111T>A (p.Pro37=)
|
rs762215475
|
0.00009
|
NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu)
|
rs148619121
|
0.00009
|
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)
|
rs142046798
|
0.00009
|
NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)
|
rs142825776
|
0.00009
|
NM_007347.5(AP4E1):c.932A>G (p.Asn311Ser)
|
rs536656846
|
0.00009
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=)
|
rs372271880
|
0.00009
|
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)
|
rs758919422
|
0.00009
|
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)
|
rs373919408
|
0.00009
|
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)
|
rs60284677
|
0.00009
|
NM_014855.3(AP5Z1):c.1795G>A (p.Gly599Ser)
|
rs369917291
|
0.00009
|
NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val)
|
rs201386329
|
0.00009
|
NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=)
|
rs374530573
|
0.00009
|
NM_015346.4(ZFYVE26):c.5834G>A (p.Arg1945Gln)
|
rs200595749
|
0.00009
|
NM_015346.4(ZFYVE26):c.951C>T (p.Ala317=)
|
rs142029189
|
0.00009
|
NM_015915.5(ATL1):c.417+3A>G
|
rs200310890
|
0.00009
|
NM_016630.7(SPG21):c.243T>C (p.Tyr81=)
|
rs373904630
|
0.00009
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp)
|
rs79186522
|
0.00009
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_152415.3(VPS37A):c.929C>T (p.Thr310Ile)
|
rs146110170
|
0.00009
|
NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=)
|
rs374633238
|
0.00009
|
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)
|
rs201733233
|
0.00008
|
NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp)
|
rs375509312
|
0.00008
|
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)
|
rs199888009
|
0.00008
|
NM_004820.5(CYP7B1):c.-2G>A
|
rs781116478
|
0.00008
|
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
|
rs121908613
|
0.00008
|
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=)
|
rs138475832
|
0.00008
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)
|
rs190623423
|
0.00008
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
NM_014363.6(SACS):c.21-5C>T
|
rs565378672
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln)
|
rs201481802
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)
|
rs137874590
|
0.00008
|
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)
|
rs373740172
|
0.00008
|
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)
|
rs534497092
|
0.00008
|
NM_020919.4(ALS2):c.366G>A (p.Gln122=)
|
rs775483404
|
0.00008
|
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys)
|
rs372419484
|
0.00008
|
NM_001166114.2(PNPLA6):c.492C>T (p.Thr164=)
|
rs778359563
|
0.00007
|
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)
|
rs752781534
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile)
|
rs192770256
|
0.00007
|
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)
|
rs200737038
|
0.00007
|
NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met)
|
rs139663513
|
0.00007
|
NM_006612.6(KIF1C):c.363+5G>A
|
rs371500484
|
0.00007
|
NM_007347.5(AP4E1):c.441A>G (p.Leu147=)
|
rs776915189
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014844.5(TECPR2):c.22G>C (p.Val8Leu)
|
rs117112831
|
0.00007
|
NM_014844.5(TECPR2):c.4066G>A (p.Val1356Met)
|
rs753581977
|
0.00007
|
NM_014846.4(WASHC5):c.1522-10T>A
|
rs200283018
|
0.00007
|
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)
|
rs375214976
|
0.00007
|
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)
|
rs373599521
|
0.00007
|
NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)
|
rs372463199
|
0.00007
|
NM_015346.4(ZFYVE26):c.763C>T (p.Arg255Trp)
|
rs267604034
|
0.00007
|
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)
|
rs370282739
|
0.00007
|
NM_031448.6(C19orf12):c.*3C>T
|
rs372139389
|
0.00007
|
NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr)
|
rs139692261
|
0.00007
|
NM_001160148.2(DDHD1):c.1212G>T (p.Gln404His)
|
rs370322081
|
0.00006
|
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)
|
rs35770729
|
0.00006
|
NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met)
|
rs370071963
|
0.00006
|
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)
|
rs758111969
|
0.00006
|
NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu)
|
rs369410320
|
0.00006
|
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)
|
rs771217469
|
0.00006
|
NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp)
|
rs745939325
|
0.00006
|
NM_001351169.2(NT5C2):c.390-3C>T
|
rs754629068
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003119.4(SPG7):c.516C>T (p.His172=)
|
rs141065708
|
0.00006
|
NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val)
|
rs777592786
|
0.00006
|
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
|
rs121908611
|
0.00006
|
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)
|
rs780381269
|
0.00006
|
NM_005619.5(RTN2):c.1068G>A (p.Thr356=)
|
rs370997046
|
0.00006
|
NM_005619.5(RTN2):c.672G>A (p.Ser224=)
|
rs377094463
|
0.00006
|
NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)
|
rs143660836
|
0.00006
|
NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)
|
rs371935764
|
0.00006
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)
|
rs201294520
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
|
rs200453385
|
0.00006
|
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys)
|
rs751957510
|
0.00006
|
NM_014844.5(TECPR2):c.2827C>T (p.Arg943Trp)
|
rs376227334
|
0.00006
|
NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=)
|
rs142318405
|
0.00006
|
NM_014846.4(WASHC5):c.*125A>G
|
rs539338883
|
0.00006
|
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr)
|
rs142883794
|
0.00006
|
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)
|
rs777093701
|
0.00006
|
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)
|
rs376329631
|
0.00006
|
NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe)
|
rs371402624
|
0.00006
|
NM_014855.3(AP5Z1):c.1766C>T (p.Ser589Leu)
|
rs765366145
|
0.00006
|
NM_014855.3(AP5Z1):c.536G>A (p.Arg179Gln)
|
rs569233326
|
0.00006
|
NM_014855.3(AP5Z1):c.628C>T (p.Pro210Ser)
|
rs773542837
|
0.00006
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
NM_015087.5(SPART):c.862T>C (p.Cys288Arg)
|
rs771147428
|
0.00006
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
NM_015346.4(ZFYVE26):c.2097C>A (p.Ile699=)
|
rs142972003
|
0.00006
|
NM_015346.4(ZFYVE26):c.3036C>T (p.His1012=)
|
rs551159891
|
0.00006
|
NM_015346.4(ZFYVE26):c.5320G>A (p.Gly1774Ser)
|
rs372819280
|
0.00006
|
NM_015346.4(ZFYVE26):c.5768G>A (p.Arg1923Gln)
|
rs199497582
|
0.00006
|
NM_016630.7(SPG21):c.64A>G (p.Ile22Val)
|
rs146092558
|
0.00006
|
NM_020919.4(ALS2):c.2712G>A (p.Thr904=)
|
rs201200488
|
0.00006
|
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)
|
rs764925739
|
0.00006
|
NM_020919.4(ALS2):c.725T>C (p.Met242Thr)
|
rs200733209
|
0.00006
|
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser)
|
rs552471760
|
0.00006
|
NM_025137.4(SPG11):c.604A>G (p.Met202Val)
|
rs201875705
|
0.00006
|
NM_025137.4(SPG11):c.6478-4del
|
rs779032507
|
0.00006
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln)
|
rs767970725
|
0.00006
|
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=)
|
rs559393431
|
0.00005
|
NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val)
|
rs375688061
|
0.00005
|
NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)
|
rs779578515
|
0.00005
|
NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu)
|
rs549560429
|
0.00005
|
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)
|
rs74382477
|
0.00005
|
NM_003119.4(SPG7):c.1728G>A (p.Ser576=)
|
rs369686424
|
0.00005
|
NM_006612.6(KIF1C):c.714G>A (p.Ser238=)
|
rs368886383
|
0.00005
|
NM_007347.5(AP4E1):c.1686A>C (p.Thr562=)
|
rs375848961
|
0.00005
|
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)
|
rs141353693
|
0.00005
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
NM_014844.5(TECPR2):c.2394+3A>G
|
rs776681603
|
0.00005
|
NM_014846.4(WASHC5):c.2888A>G (p.Asn963Ser)
|
rs748167994
|
0.00005
|
NM_014946.4(SPAST):c.30G>A (p.Lys10=)
|
rs768928614
|
0.00005
|
NM_014946.4(SPAST):c.832G>A (p.Val278Met)
|
rs369908571
|
0.00005
|
NM_015087.5(SPART):c.466C>T (p.Pro156Ser)
|
rs202174672
|
0.00005
|
NM_015346.4(ZFYVE26):c.2426G>A (p.Gly809Asp)
|
rs149519213
|
0.00005
|
NM_015346.4(ZFYVE26):c.2756-7C>T
|
rs200721800
|
0.00005
|
NM_016630.7(SPG21):c.862A>G (p.Met288Val)
|
rs371753104
|
0.00005
|
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val)
|
rs752282539
|
0.00005
|
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)
|
rs112869526
|
0.00005
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)
|
rs747965749
|
0.00005
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=)
|
rs375554369
|
0.00004
|
NM_001160148.2(DDHD1):c.182G>C (p.Gly61Ala)
|
rs548480563
|
0.00004
|
NM_001160148.2(DDHD1):c.2195G>A (p.Arg732His)
|
rs143188831
|
0.00004
|
NM_001160148.2(DDHD1):c.266A>G (p.Tyr89Cys)
|
rs771632283
|
0.00004
|
NM_001244008.2(KIF1A):c.1725C>T (p.Tyr575=)
|
rs772063378
|
0.00004
|
NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)
|
rs530540257
|
0.00004
|
NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro)
|
rs149478319
|
0.00004
|
NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=)
|
rs139646807
|
0.00004
|
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)
|
rs776848222
|
0.00004
|
NM_002693.3(POLG):c.2880C>T (p.Pro960=)
|
rs752500492
|
0.00004
|
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)
|
rs148786642
|
0.00004
|
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)
|
rs767594147
|
0.00004
|
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)
|
rs747291828
|
0.00004
|
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr)
|
rs113678237
|
0.00004
|
NM_003119.4(SPG7):c.1422C>T (p.His474=)
|
rs201482100
|
0.00004
|
NM_004820.5(CYP7B1):c.515C>A (p.Thr172Asn)
|
rs569241534
|
0.00004
|
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys)
|
rs751907012
|
0.00004
|
NM_005619.5(RTN2):c.1476C>G (p.Pro492=)
|
rs748824542
|
0.00004
|
NM_006459.4(ERLIN1):c.315C>T (p.Ile105=)
|
rs373926474
|
0.00004
|
NM_006517.5(SLC16A2):c.1430A>G (p.His477Arg)
|
rs754443385
|
0.00004
|
NM_007215.4(POLG2):c.851G>A (p.Arg284Gln)
|
rs782115619
|
0.00004
|
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.1905G>A (p.Leu635=)
|
rs771581634
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
NM_014363.6(SACS):c.8450C>T (p.Thr2817Met)
|
rs371652968
|
0.00004
|
NM_014363.6(SACS):c.874G>T (p.Val292Phe)
|
rs760555463
|
0.00004
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
NM_014844.5(TECPR2):c.4136G>A (p.Arg1379Gln)
|
rs773443293
|
0.00004
|
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala)
|
rs553869211
|
0.00004
|
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu)
|
rs757250722
|
0.00004
|
NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter)
|
rs762066700
|
0.00004
|
NM_014855.3(AP5Z1):c.1989C>T (p.Thr663=)
|
rs547171686
|
0.00004
|
NM_014855.3(AP5Z1):c.624G>A (p.Pro208=)
|
rs772392202
|
0.00004
|
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=)
|
rs763250825
|
0.00004
|
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=)
|
rs777233282
|
0.00004
|
NM_015046.7(SETX):c.1140T>G (p.Pro380=)
|
rs140553290
|
0.00004
|
NM_015046.7(SETX):c.1811C>G (p.Thr604Ser)
|
rs1005649811
|
0.00004
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
0.00004
|
NM_015046.7(SETX):c.2502A>G (p.Gly834=)
|
rs762818441
|
0.00004
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
|
rs374110190
|
0.00004
|
NM_015046.7(SETX):c.719-4A>G
|
rs775443601
|
0.00004
|
NM_015046.7(SETX):c.77C>T (p.Pro26Leu)
|
rs377617692
|
0.00004
|
NM_015087.5(SPART):c.798C>T (p.Pro266=)
|
rs769573100
|
0.00004
|
NM_015087.5(SPART):c.843T>A (p.Asp281Glu)
|
rs1264655090
|
0.00004
|
NM_015346.4(ZFYVE26):c.1387C>T (p.Leu463Phe)
|
rs556064894
|
0.00004
|
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr)
|
rs551062468
|
0.00004
|
NM_015346.4(ZFYVE26):c.416A>G (p.Asn139Ser)
|
rs754388575
|
0.00004
|
NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly)
|
rs759468816
|
0.00004
|
NM_015346.4(ZFYVE26):c.4955C>T (p.Ala1652Val)
|
rs752388667
|
0.00004
|
NM_015346.4(ZFYVE26):c.540C>T (p.Asp180=)
|
rs150289689
|
0.00004
|
NM_015915.5(ATL1):c.570C>G (p.Leu190=)
|
rs202173614
|
0.00004
|
NM_016630.7(SPG21):c.153T>C (p.Pro51=)
|
rs771940904
|
0.00004
|
NM_016630.7(SPG21):c.452+2T>C
|
rs755390093
|
0.00004
|
NM_020435.4(GJC2):c.285G>A (p.Leu95=)
|
rs148764840
|
0.00004
|
NM_020919.4(ALS2):c.2282A>G (p.His761Arg)
|
rs370377488
|
0.00004
|
NM_020944.3(GBA2):c.1A>T (p.Met1Leu)
|
rs770566458
|
0.00004
|
NM_020944.3(GBA2):c.300C>G (p.Pro100=)
|
rs202140393
|
0.00004
|
NM_020944.3(GBA2):c.746C>T (p.Thr249Ile)
|
rs370954241
|
0.00004
|
NM_020944.3(GBA2):c.959G>A (p.Arg320Gln)
|
rs368192956
|
0.00004
|
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile)
|
rs139399250
|
0.00004
|
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys)
|
rs377341108
|
0.00004
|
NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs)
|
rs760208786
|
0.00003
|
NM_001166114.2(PNPLA6):c.3281-4G>A
|
rs555997335
|
0.00003
|
NM_001244008.2(KIF1A):c.2409C>T (p.Asn803=)
|
rs746800505
|
0.00003
|
NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His)
|
rs371517661
|
0.00003
|
NM_001244008.2(KIF1A):c.4717G>A (p.Val1573Ile)
|
rs1401684116
|
0.00003
|
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)
|
rs763730264
|
0.00003
|
NM_001253852.3(AP4B1):c.49C>T (p.Leu17=)
|
rs748774784
|
0.00003
|
NM_001776.6(ENTPD1):c.376G>A (p.Val126Ile)
|
rs149992374
|
0.00003
|
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val)
|
rs373239891
|
0.00003
|
NM_003119.4(SPG7):c.1151-8C>T
|
rs200402056
|
0.00003
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003119.4(SPG7):c.759-6C>T
|
rs568452581
|
0.00003
|
NM_003119.4(SPG7):c.878C>T (p.Ala293Val)
|
rs201723702
|
0.00003
|
NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser)
|
rs751435731
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu)
|
rs368626966
|
0.00003
|
NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp)
|
rs200388087
|
0.00003
|
NM_006612.6(KIF1C):c.3234C>T (p.Tyr1078=)
|
rs771822956
|
0.00003
|
NM_007347.5(AP4E1):c.3277C>G (p.Gln1093Glu)
|
rs773929706
|
0.00003
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)
|
rs759378757
|
0.00003
|
NM_014844.5(TECPR2):c.2528G>T (p.Arg843Leu)
|
rs765981384
|
0.00003
|
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val)
|
rs138176168
|
0.00003
|
NM_014855.3(AP5Z1):c.1642C>T (p.Arg548Cys)
|
rs777692803
|
0.00003
|
NM_014855.3(AP5Z1):c.2201C>T (p.Ala734Val)
|
rs200761076
|
0.00003
|
NM_014855.3(AP5Z1):c.948G>C (p.Gly316=)
|
rs769272823
|
0.00003
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00003
|
NM_015087.5(SPART):c.1127A>G (p.Asn376Ser)
|
rs368305530
|
0.00003
|
NM_015087.5(SPART):c.1655T>G (p.Val552Gly)
|
rs202118286
|
0.00003
|
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)
|
rs778628163
|
0.00003
|
NM_015346.4(ZFYVE26):c.1435+8G>A
|
rs779576115
|
0.00003
|
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)
|
rs201339450
|
0.00003
|
NM_015346.4(ZFYVE26):c.4027A>G (p.Arg1343Gly)
|
rs777319379
|
0.00003
|
NM_015346.4(ZFYVE26):c.6876A>G (p.Leu2292=)
|
rs773663147
|
0.00003
|
NM_020435.4(GJC2):c.540G>A (p.Lys180=)
|
rs759727327
|
0.00003
|
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp)
|
rs769268310
|
0.00003
|
NM_024306.5(FA2H):c.905C>T (p.Ala302Val)
|
rs202048141
|
0.00003
|
NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)
|
rs978032580
|
0.00003
|
NM_024989.4(PGAP1):c.1892A>G (p.Asp631Gly)
|
rs753763690
|
0.00003
|
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp)
|
rs748177028
|
0.00003
|
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr)
|
rs1060501171
|
0.00003
|
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln)
|
rs370773328
|
0.00003
|
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis)
|
rs1331704584
|
0.00003
|
NM_152269.5(MTRFR):c.309G>A (p.Gln103=)
|
rs573747271
|
0.00003
|
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)
|
rs141431913
|
0.00003
|
NM_183075.3(CYP2U1):c.360C>G (p.Phe120Leu)
|
rs753662731
|
0.00003
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=)
|
rs546774166
|
0.00002
|
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter)
|
rs370033046
|
0.00002
|
NM_001166114.2(PNPLA6):c.881C>T (p.Ala294Val)
|
rs756180538
|
0.00002
|
NM_001244008.2(KIF1A):c.2359C>T (p.Arg787Trp)
|
rs756664454
|
0.00002
|
NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=)
|
rs772100288
|
0.00002
|
NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys)
|
rs756404463
|
0.00002
|
NM_001253852.3(AP4B1):c.567G>A (p.Gln189=)
|
rs933273265
|
0.00002
|
NM_001278116.2(L1CAM):c.198-9C>T
|
rs782753470
|
0.00002
|
NM_001278116.2(L1CAM):c.401-7C>G
|
rs1424993007
|
0.00002
|
NM_001776.6(ENTPD1):c.691G>A (p.Glu231Lys)
|
rs754284810
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)
|
rs146584956
|
0.00002
|
NM_002693.3(POLG):c.452T>C (p.Leu151Pro)
|
rs749018627
|
0.00002
|
NM_002860.4(ALDH18A1):c.454-9A>G
|
rs775098819
|
0.00002
|
NM_003119.4(SPG7):c.706G>A (p.Glu236Lys)
|
rs376360606
|
0.00002
|
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser)
|
rs769450032
|
0.00002
|
NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=)
|
rs758863136
|
0.00002
|
NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)
|
rs759048539
|
0.00002
|
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)
|
rs201936720
|
0.00002
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
NM_007347.5(AP4E1):c.1336T>C (p.Trp446Arg)
|
rs190643886
|
0.00002
|
NM_007347.5(AP4E1):c.1867T>C (p.Ser623Pro)
|
rs766696884
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr)
|
rs1002701621
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.7275A>G (p.Arg2425=)
|
rs761313165
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)
|
rs377626385
|
0.00002
|
NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp)
|
rs762185786
|
0.00002
|
NM_014846.4(WASHC5):c.1109A>G (p.Asn370Ser)
|
rs368495548
|
0.00002
|
NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)
|
rs554772608
|
0.00002
|
NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)
|
rs527642993
|
0.00002
|
NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn)
|
rs547606175
|
0.00002
|
NM_015087.5(SPART):c.340T>C (p.Tyr114His)
|
rs779539483
|
0.00002
|
NM_015087.5(SPART):c.815G>A (p.Cys272Tyr)
|
rs188620997
|
0.00002
|
NM_015214.3(DDHD2):c.375T>C (p.Tyr125=)
|
rs201640343
|
0.00002
|
NM_015346.4(ZFYVE26):c.308A>C (p.Glu103Ala)
|
rs750426190
|
0.00002
|
NM_015346.4(ZFYVE26):c.4073G>A (p.Arg1358His)
|
rs138424288
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_015346.4(ZFYVE26):c.6973G>A (p.Ala2325Thr)
|
rs763267244
|
0.00002
|
NM_015346.4(ZFYVE26):c.764G>A (p.Arg255Gln)
|
rs200023667
|
0.00002
|
NM_016630.7(SPG21):c.172G>A (p.Val58Ile)
|
rs368785512
|
0.00002
|
NM_020919.4(ALS2):c.2735G>A (p.Arg912His)
|
rs374156359
|
0.00002
|
NM_020919.4(ALS2):c.4692A>G (p.Thr1564=)
|
rs532630245
|
0.00002
|
NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp)
|
rs779186036
|
0.00002
|
NM_021830.5(TWNK):c.1909C>T (p.Arg637Trp)
|
rs755985090
|
0.00002
|
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)
|
rs765086319
|
0.00002
|
NM_024306.5(FA2H):c.599C>T (p.Thr200Met)
|
rs139261750
|
0.00002
|
NM_024306.5(FA2H):c.771C>T (p.His257=)
|
rs371293493
|
0.00002
|
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)
|
rs758283563
|
0.00002
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.206C>T (p.Thr69Met)
|
rs764422997
|
0.00002
|
NM_025137.4(SPG11):c.2280C>T (p.Cys760=)
|
rs567932275
|
0.00002
|
NM_025137.4(SPG11):c.2306G>A (p.Arg769His)
|
rs368151745
|
0.00002
|
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser)
|
rs776764189
|
0.00002
|
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His)
|
rs768408465
|
0.00002
|
NM_025137.4(SPG11):c.820G>A (p.Val274Ile)
|
rs543316224
|
0.00002
|
NM_025137.4(SPG11):c.891G>A (p.Leu297=)
|
rs765967405
|
0.00002
|
NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser)
|
rs757735101
|
0.00002
|
NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly)
|
rs768941323
|
0.00002
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=)
|
rs145393127
|
0.00001
|
NM_001128126.3(AP4S1):c.306+4251G>C
|
rs1226099981
|
0.00001
|
NM_001160148.2(DDHD1):c.1014T>C (p.Ala338=)
|
rs542200589
|
0.00001
|
NM_001160148.2(DDHD1):c.1553G>T (p.Cys518Phe)
|
rs1291109043
|
0.00001
|
NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)
|
rs568294049
|
0.00001
|
NM_001160148.2(DDHD1):c.1931A>G (p.His644Arg)
|
rs754424163
|
0.00001
|
NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=)
|
rs377049663
|
0.00001
|
NM_001160148.2(DDHD1):c.2247G>T (p.Gly749=)
|
rs1882884228
|
0.00001
|
NM_001160148.2(DDHD1):c.2279T>C (p.Met760Thr)
|
rs375381564
|
0.00001
|
NM_001166114.2(PNPLA6):c.1336G>C (p.Gly446Arg)
|
rs573529919
|
0.00001
|
NM_001166114.2(PNPLA6):c.1621C>T (p.His541Tyr)
|
rs1050752297
|
0.00001
|
NM_001166114.2(PNPLA6):c.2369C>T (p.Thr790Met)
|
rs753592836
|
0.00001
|
NM_001166114.2(PNPLA6):c.3019T>G (p.Ser1007Ala)
|
rs775899903
|
0.00001
|
NM_001166114.2(PNPLA6):c.3961G>A (p.Asp1321Asn)
|
rs144558473
|
0.00001
|
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln)
|
rs368661376
|
0.00001
|
NM_001244008.2(KIF1A):c.2480G>A (p.Arg827His)
|
rs768899178
|
0.00001
|
NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)
|
rs370648599
|
0.00001
|
NM_001244008.2(KIF1A):c.2582+7G>A
|
rs781439626
|
0.00001
|
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)
|
rs542427011
|
0.00001
|
NM_001244008.2(KIF1A):c.3829C>T (p.Arg1277Trp)
|
rs374076405
|
0.00001
|
NM_001244008.2(KIF1A):c.406G>A (p.Asp136Asn)
|
rs374178011
|
0.00001
|
NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp)
|
rs746442427
|
0.00001
|
NM_001244008.2(KIF1A):c.5274C>T (p.Ser1758=)
|
rs899778611
|
0.00001
|
NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln)
|
rs1349426679
|
0.00001
|
NM_001244008.2(KIF1A):c.799-5C>T
|
rs1328471853
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001253852.3(AP4B1):c.924A>G (p.Pro308=)
|
rs1256078127
|
0.00001
|
NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp)
|
rs782361186
|
0.00001
|
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)
|
rs149420127
|
0.00001
|
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)
|
rs782180684
|
0.00001
|
NM_001351169.2(NT5C2):c.1562G>A (p.Arg521Gln)
|
rs774169900
|
0.00001
|
NM_001776.6(ENTPD1):c.1119A>G (p.Thr373=)
|
rs772314516
|
0.00001
|
NM_001776.6(ENTPD1):c.1289C>T (p.Thr430Ile)
|
rs758827298
|
0.00001
|
NM_001776.6(ENTPD1):c.139G>A (p.Val47Ile)
|
rs771708732
|
0.00001
|
NM_001776.6(ENTPD1):c.1411C>G (p.Pro471Ala)
|
rs1173015974
|
0.00001
|
NM_002156.5(HSPD1):c.1009G>A (p.Val337Ile)
|
rs755920309
|
0.00001
|
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp)
|
rs766242100
|
0.00001
|
NM_002693.3(POLG):c.3443G>A (p.Arg1148His)
|
rs145004638
|
0.00001
|
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)
|
rs765344513
|
0.00001
|
NM_002693.3(POLG):c.38C>G (p.Thr13Ser)
|
rs1199924512
|
0.00001
|
NM_002693.3(POLG):c.479C>T (p.Ala160Val)
|
rs1304711656
|
0.00001
|
NM_002693.3(POLG):c.484C>T (p.Leu162=)
|
rs375445567
|
0.00001
|
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)
|
rs771965130
|
0.00001
|
NM_002860.4(ALDH18A1):c.1363T>C (p.Leu455=)
|
rs753823851
|
0.00001
|
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)
|
rs201428777
|
0.00001
|
NM_003119.4(SPG7):c.1046G>T (p.Gly349Val)
|
rs1387985266
|
0.00001
|
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)
|
rs537421502
|
0.00001
|
NM_003119.4(SPG7):c.1257C>T (p.Thr419=)
|
rs766401031
|
0.00001
|
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)
|
rs1482442290
|
0.00001
|
NM_003119.4(SPG7):c.1523G>A (p.Arg508His)
|
rs201733920
|
0.00001
|
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)
|
rs372981030
|
0.00001
|
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly)
|
rs759329959
|
0.00001
|
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)
|
rs879253797
|
0.00001
|
NM_003119.4(SPG7):c.618+8A>G
|
rs768740995
|
0.00001
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
NM_004722.4(AP4M1):c.1044C>T (p.Ser348=)
|
rs746663793
|
0.00001
|
NM_004722.4(AP4M1):c.146T>A (p.Met49Lys)
|
rs200567804
|
0.00001
|
NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe)
|
rs200722903
|
0.00001
|
NM_004722.4(AP4M1):c.643C>T (p.Arg215Trp)
|
rs146445385
|
0.00001
|
NM_004733.4(SLC33A1):c.1626G>C (p.Ser542=)
|
rs1163944109
|
0.00001
|
NM_004820.5(CYP7B1):c.1031A>C (p.Glu344Ala)
|
rs1057518485
|
0.00001
|
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)
|
rs121908610
|
0.00001
|
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)
|
rs749301835
|
0.00001
|
NM_004984.4(KIF5A):c.2271C>T (p.His757=)
|
rs374554951
|
0.00001
|
NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys)
|
rs749616160
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_005619.5(RTN2):c.253C>T (p.Arg85Cys)
|
rs751101450
|
0.00001
|
NM_005619.5(RTN2):c.764G>T (p.Cys255Phe)
|
rs775281770
|
0.00001
|
NM_006459.4(ERLIN1):c.789A>G (p.Glu263=)
|
rs759786446
|
0.00001
|
NM_006459.4(ERLIN1):c.893A>G (p.Tyr298Cys)
|
rs756772947
|
0.00001
|
NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr)
|
rs755935386
|
0.00001
|
NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu)
|
rs760659714
|
0.00001
|
NM_006612.6(KIF1C):c.1938-5C>G
|
rs1168197465
|
0.00001
|
NM_006612.6(KIF1C):c.2155C>T (p.Arg719Cys)
|
rs147429300
|
0.00001
|
NM_006612.6(KIF1C):c.2565C>A (p.Asp855Glu)
|
rs767390082
|
0.00001
|
NM_006612.6(KIF1C):c.2674C>T (p.Pro892Ser)
|
rs561679213
|
0.00001
|
NM_006612.6(KIF1C):c.2878G>A (p.Gly960Arg)
|
rs757104315
|
0.00001
|
NM_006612.6(KIF1C):c.2952C>A (p.Asn984Lys)
|
rs750130519
|
0.00001
|
NM_006612.6(KIF1C):c.412C>G (p.Leu138Val)
|
rs773746672
|
0.00001
|
NM_006612.6(KIF1C):c.429+8C>T
|
rs549957230
|
0.00001
|
NM_007175.8(ERLIN2):c.39T>C (p.Ser13=)
|
rs368986092
|
0.00001
|
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)
|
rs763958615
|
0.00001
|
NM_007215.4(POLG2):c.1363C>A (p.Leu455Met)
|
rs1284799258
|
0.00001
|
NM_007215.4(POLG2):c.520G>A (p.Val174Ile)
|
rs1331115392
|
0.00001
|
NM_007215.4(POLG2):c.776G>A (p.Arg259Gln)
|
rs368309122
|
0.00001
|
NM_007347.5(AP4E1):c.212C>T (p.Thr71Ile)
|
rs755540057
|
0.00001
|
NM_007347.5(AP4E1):c.2508C>T (p.His836=)
|
rs369673380
|
0.00001
|
NM_007347.5(AP4E1):c.2621C>T (p.Thr874Ile)
|
rs999709311
|
0.00001
|
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)
|
rs752693324
|
0.00001
|
NM_007347.5(AP4E1):c.3288A>G (p.Pro1096=)
|
rs764886183
|
0.00001
|
NM_007347.5(AP4E1):c.3374A>G (p.Tyr1125Cys)
|
rs539408428
|
0.00001
|
NM_007347.5(AP4E1):c.822A>G (p.Gln274=)
|
rs991693986
|
0.00001
|
NM_007347.5(AP4E1):c.944-6T>A
|
rs775899244
|
0.00001
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.1115C>T (p.Thr372Ile)
|
rs1296261982
|
0.00001
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)
|
rs1486450052
|
0.00001
|
NM_014363.6(SACS):c.12835C>G (p.Leu4279Val)
|
rs537725928
|
0.00001
|
NM_014363.6(SACS):c.157C>A (p.Arg53Ser)
|
rs1201976226
|
0.00001
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
0.00001
|
NM_014363.6(SACS):c.1859C>G (p.Thr620Arg)
|
rs1159082212
|
0.00001
|
NM_014363.6(SACS):c.21-6C>A
|
rs767048737
|
0.00001
|
NM_014363.6(SACS):c.2148C>T (p.His716=)
|
rs780789330
|
0.00001
|
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)
|
rs142037771
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.4749A>G (p.Pro1583=)
|
rs760512075
|
0.00001
|
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
|
rs567650774
|
0.00001
|
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)
|
rs762610527
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014844.5(TECPR2):c.1129G>A (p.Val377Met)
|
rs527904656
|
0.00001
|
NM_014844.5(TECPR2):c.1244C>A (p.Ser415Tyr)
|
rs1239046327
|
0.00001
|
NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser)
|
rs904496072
|
0.00001
|
NM_014844.5(TECPR2):c.1704T>G (p.Thr568=)
|
rs749355080
|
0.00001
|
NM_014844.5(TECPR2):c.2359G>A (p.Gly787Ser)
|
rs780941342
|
0.00001
|
NM_014844.5(TECPR2):c.2701G>A (p.Asp901Asn)
|
rs967777387
|
0.00001
|
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met)
|
rs752912949
|
0.00001
|
NM_014844.5(TECPR2):c.3475C>T (p.Arg1159Trp)
|
rs202087410
|
0.00001
|
NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=)
|
rs773460001
|
0.00001
|
NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile)
|
rs766050891
|
0.00001
|
NM_014844.5(TECPR2):c.4149G>A (p.Thr1383=)
|
rs776285112
|
0.00001
|
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg)
|
rs1357562835
|
0.00001
|
NM_014846.4(WASHC5):c.2120A>C (p.Glu707Ala)
|
rs748085274
|
0.00001
|
NM_014846.4(WASHC5):c.2881A>G (p.Ile961Val)
|
rs1381772866
|
0.00001
|
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)
|
rs761500521
|
0.00001
|
NM_014855.3(AP5Z1):c.*10G>A
|
rs549404448
|
0.00001
|
NM_014855.3(AP5Z1):c.1000G>A (p.Val334Met)
|
rs750795563
|
0.00001
|
NM_014855.3(AP5Z1):c.1493C>T (p.Thr498Ile)
|
rs1562411400
|
0.00001
|
NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter)
|
rs1342590804
|
0.00001
|
NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=)
|
rs761290075
|
0.00001
|
NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=)
|
rs750818039
|
0.00001
|
NM_014855.3(AP5Z1):c.1970C>T (p.Thr657Ile)
|
rs1243924522
|
0.00001
|
NM_014855.3(AP5Z1):c.2249G>A (p.Arg750Gln)
|
rs778239868
|
0.00001
|
NM_014855.3(AP5Z1):c.2289G>C (p.Val763=)
|
rs925870726
|
0.00001
|
NM_014855.3(AP5Z1):c.2291C>T (p.Ala764Val)
|
rs1781762371
|
0.00001
|
NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)
|
rs767325342
|
0.00001
|
NM_014946.4(SPAST):c.10C>G (p.Pro4Ala)
|
rs937319046
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_015046.7(SETX):c.2427C>G (p.Ile809Met)
|
rs765654690
|
0.00001
|
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser)
|
rs143265750
|
0.00001
|
NM_015046.7(SETX):c.304A>G (p.Thr102Ala)
|
rs770962447
|
0.00001
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
NM_015046.7(SETX):c.5973C>T (p.Asp1991=)
|
rs1210056357
|
0.00001
|
NM_015046.7(SETX):c.6024T>C (p.Pro2008=)
|
rs1045096306
|
0.00001
|
NM_015046.7(SETX):c.6355G>C (p.Val2119Leu)
|
rs1264446335
|
0.00001
|
NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)
|
rs1050317633
|
0.00001
|
NM_015214.3(DDHD2):c.1157A>C (p.Asp386Ala)
|
rs1187124864
|
0.00001
|
NM_015214.3(DDHD2):c.1574A>G (p.Tyr525Cys)
|
rs370811347
|
0.00001
|
NM_015214.3(DDHD2):c.1903G>A (p.Glu635Lys)
|
rs371076038
|
0.00001
|
NM_015214.3(DDHD2):c.381C>T (p.Pro127=)
|
rs1334551717
|
0.00001
|
NM_015214.3(DDHD2):c.929A>G (p.Tyr310Cys)
|
rs771731389
|
0.00001
|
NM_015346.4(ZFYVE26):c.1378G>A (p.Glu460Lys)
|
rs764112580
|
0.00001
|
NM_015346.4(ZFYVE26):c.1399C>G (p.Gln467Glu)
|
rs373177554
|
0.00001
|
NM_015346.4(ZFYVE26):c.2756-6G>A
|
rs750576685
|
0.00001
|
NM_015346.4(ZFYVE26):c.3259C>G (p.Leu1087Val)
|
rs1279334070
|
0.00001
|
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)
|
rs988442865
|
0.00001
|
NM_015346.4(ZFYVE26):c.3652A>C (p.Asn1218His)
|
rs1306939952
|
0.00001
|
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs)
|
rs950356390
|
0.00001
|
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)
|
rs370828455
|
0.00001
|
NM_015346.4(ZFYVE26):c.4203C>T (p.Leu1401=)
|
rs941752233
|
0.00001
|
NM_015346.4(ZFYVE26):c.4452G>C (p.Arg1484Ser)
|
rs368241137
|
0.00001
|
NM_015346.4(ZFYVE26):c.4663C>T (p.Leu1555=)
|
rs2039462773
|
0.00001
|
NM_015346.4(ZFYVE26):c.5791-3C>T
|
rs1334379838
|
0.00001
|
NM_015346.4(ZFYVE26):c.5981G>A (p.Gly1994Asp)
|
rs1359433577
|
0.00001
|
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)
|
rs387906941
|
0.00001
|
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
|
rs864622269
|
0.00001
|
NM_015915.5(ATL1):c.670G>A (p.Glu224Lys)
|
rs976793999
|
0.00001
|
NM_016630.7(SPG21):c.676G>C (p.Asp226His)
|
rs1362786999
|
0.00001
|
NM_020435.4(GJC2):c.1209C>T (p.Val403=)
|
rs754261952
|
0.00001
|
NM_020435.4(GJC2):c.300C>A (p.His100Gln)
|
rs372240320
|
0.00001
|
NM_020919.4(ALS2):c.1403T>C (p.Val468Ala)
|
rs751794543
|
0.00001
|
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)
|
rs375742430
|
0.00001
|
NM_020919.4(ALS2):c.2912+8C>T
|
rs528131651
|
0.00001
|
NM_020919.4(ALS2):c.3703-7T>C
|
rs201333167
|
0.00001
|
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)
|
rs761291489
|
0.00001
|
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe)
|
rs370296035
|
0.00001
|
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly)
|
rs778865969
|
0.00001
|
NM_020944.3(GBA2):c.1428C>T (p.Tyr476=)
|
rs781075990
|
0.00001
|
NM_020944.3(GBA2):c.2699G>A (p.Trp900Ter)
|
rs767031907
|
0.00001
|
NM_020944.3(GBA2):c.490C>T (p.Arg164Cys)
|
rs867545153
|
0.00001
|
NM_020944.3(GBA2):c.704C>G (p.Ala235Gly)
|
rs1387168151
|
0.00001
|
NM_021830.5(TWNK):c.1069C>T (p.Arg357Cys)
|
rs1198520632
|
0.00001
|
NM_021830.5(TWNK):c.1466A>G (p.His489Arg)
|
rs765275995
|
0.00001
|
NM_021830.5(TWNK):c.286G>A (p.Val96Ile)
|
rs1339977334
|
0.00001
|
NM_024306.5(FA2H):c.549C>T (p.Leu183=)
|
rs767690383
|
0.00001
|
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)
|
rs775750642
|
0.00001
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
NM_024989.4(PGAP1):c.-5G>C
|
rs983042203
|
0.00001
|
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)
|
rs780043187
|
0.00001
|
NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)
|
rs768328398
|
0.00001
|
NM_024989.4(PGAP1):c.2393C>T (p.Ser798Leu)
|
rs1051067702
|
0.00001
|
NM_024989.4(PGAP1):c.2526-7A>G
|
rs1484939132
|
0.00001
|
NM_024989.4(PGAP1):c.585T>C (p.Asn195=)
|
rs1038323136
|
0.00001
|
NM_024989.4(PGAP1):c.636T>C (p.Asp212=)
|
rs1337628147
|
0.00001
|
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp)
|
rs1304995096
|
0.00001
|
NM_025137.4(SPG11):c.1457-2A>G
|
rs312262726
|
0.00001
|
NM_025137.4(SPG11):c.15A>T (p.Glu5Asp)
|
rs1444959753
|
0.00001
|
NM_025137.4(SPG11):c.1632A>G (p.Thr544=)
|
rs368683333
|
0.00001
|
NM_025137.4(SPG11):c.1649A>G (p.Lys550Arg)
|
rs529146881
|
0.00001
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala)
|
rs566318835
|
0.00001
|
NM_025137.4(SPG11):c.2727T>C (p.Tyr909=)
|
rs759432908
|
0.00001
|
NM_025137.4(SPG11):c.295A>G (p.Thr99Ala)
|
rs2085075688
|
0.00001
|
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr)
|
rs747910594
|
0.00001
|
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val)
|
rs768718170
|
0.00001
|
NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)
|
rs376125033
|
0.00001
|
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser)
|
rs376207036
|
0.00001
|
NM_025137.4(SPG11):c.5113A>G (p.Ile1705Val)
|
rs959255565
|
0.00001
|
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser)
|
rs2082706047
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr)
|
rs1179229360
|
0.00001
|
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro)
|
rs1275110844
|
0.00001
|
NM_025137.4(SPG11):c.7317C>T (p.Asp2439=)
|
rs1445433088
|
0.00001
|
NM_031448.6(C19orf12):c.180G>C (p.Leu60=)
|
rs762116472
|
0.00001
|
NM_031448.6(C19orf12):c.290G>A (p.Arg97Lys)
|
rs778618279
|
0.00001
|
NM_031448.6(C19orf12):c.59A>G (p.Lys20Arg)
|
rs901084258
|
0.00001
|
NM_144599.5(NIPA1):c.479-7G>T
|
rs758551462
|
0.00001
|
NM_144599.5(NIPA1):c.636G>A (p.Ala212=)
|
rs147232331
|
0.00001
|
NM_144599.5(NIPA1):c.798C>T (p.Val266=)
|
rs1008907564
|
0.00001
|
NM_152269.5(MTRFR):c.212G>C (p.Gly71Ala)
|
rs774090934
|
0.00001
|
NM_152269.5(MTRFR):c.333C>A (p.Ile111=)
|
rs769551356
|
0.00001
|
NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr)
|
rs749208492
|
0.00001
|
NM_152415.3(VPS37A):c.539C>G (p.Ser180Cys)
|
rs778062997
|
0.00001
|
NM_152415.3(VPS37A):c.556C>A (p.His186Asn)
|
rs774817335
|
0.00001
|
NM_152415.3(VPS37A):c.642+10G>A
|
rs531893337
|
0.00001
|
NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg)
|
rs201069468
|
0.00001
|
NM_152415.3(VPS37A):c.853C>G (p.Leu285Val)
|
rs771451141
|
0.00001
|
NM_152415.3(VPS37A):c.928A>G (p.Thr310Ala)
|
rs773070587
|
0.00001
|
NM_183075.3(CYP2U1):c.209G>A (p.Gly70Asp)
|
rs775828461
|
0.00001
|
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)
|
rs766889023
|
0.00001
|
NM_183075.3(CYP2U1):c.557G>A (p.Arg186His)
|
rs746319505
|
0.00001
|
NM_183075.3(CYP2U1):c.888T>C (p.Ser296=)
|
rs369116680
|
0.00001
|
NM_000533.5(PLP1):c.245A>G (p.Tyr82Cys)
|
rs2147764248
|
|
NM_000533.5(PLP1):c.436C>T (p.Leu146=)
|
rs2147764616
|
|
NM_000533.5(PLP1):c.442C>T (p.His148Tyr)
|
rs2147764634
|
|
NM_000533.5(PLP1):c.763C>T (p.Leu255Phe)
|
rs2147769209
|
|
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser)
|
rs1440384464
|
|
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His)
|
rs778455259
|
|
NM_001122955.4(BSCL2):c.281A>T (p.Gln94Leu)
|
rs2134740707
|
|
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe)
|
rs370905417
|
|
NM_001122955.4(BSCL2):c.631-8C>T
|
rs1196120956
|
|
NM_001122955.4(BSCL2):c.863+5G>A
|
rs786205072
|
|
NM_001122955.4(BSCL2):c.88-663G>A
|
rs117862461
|
|
NM_001128126.3(AP4S1):c.306+4182dup
|
rs766477779
|
|
NM_001128126.3(AP4S1):c.306+4275G>C
|
rs528491755
|
|
NM_001128126.3(AP4S1):c.306+50G>T
|
rs1315033150
|
|
NM_001160148.2(DDHD1):c.*3346AC[18]
|
rs59747041
|
|
NM_001160148.2(DDHD1):c.1142-7T>C
|
rs748714439
|
|
NM_001160148.2(DDHD1):c.1993-19dup
|
rs755741246
|
|
NM_001160148.2(DDHD1):c.19G>C (p.Gly7Arg)
|
rs1052951644
|
|
NM_001160148.2(DDHD1):c.2299C>T (p.Arg767Cys)
|
rs1057518484
|
|
NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn)
|
rs202164262
|
|
NM_001160148.2(DDHD1):c.684T>C (p.Asp228=)
|
rs1382953265
|
|
NM_001160148.2(DDHD1):c.862C>T (p.Arg288Cys)
|
rs866916431
|
|
NM_001160148.2(DDHD1):c.960G>A (p.Gln320=)
|
rs2139724476
|
|
NM_001166114.2(PNPLA6):c.1345del (p.Leu449fs)
|
rs781364197
|
|
NM_001166114.2(PNPLA6):c.1412G>A (p.Ser471Asn)
|
rs2023216883
|
|
NM_001166114.2(PNPLA6):c.1638C>T (p.Gly546=)
|
rs2146086468
|
|
NM_001166114.2(PNPLA6):c.2185-3C>T
|
rs2023643286
|
|
NM_001166114.2(PNPLA6):c.2402-7C>T
|
rs2146100412
|
|
NM_001166114.2(PNPLA6):c.2825T>C (p.Leu942Pro)
|
rs2146103867
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
NM_001166114.2(PNPLA6):c.3063C>G (p.Arg1021=)
|
rs2023850660
|
|
NM_001166114.2(PNPLA6):c.3398C>T (p.Ala1133Val)
|
rs1361220718
|
|
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=)
|
rs146121276
|
|
NM_001166114.2(PNPLA6):c.3816+5G>A
|
rs1223083963
|
|
NM_001166114.2(PNPLA6):c.3817-6C>G
|
rs2146122797
|
|
NM_001166114.2(PNPLA6):c.3981G>A (p.Gly1327=)
|
rs2024089508
|
|
NM_001166114.2(PNPLA6):c.3990C>A (p.Pro1330=)
|
rs535388759
|
|
NM_001166114.2(PNPLA6):c.883G>T (p.Val295Phe)
|
rs1282788048
|
|
NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)
|
rs2052246987
|
|
NM_001244008.2(KIF1A):c.1141G>A (p.Asp381Asn)
|
rs1263716240
|
|
NM_001244008.2(KIF1A):c.1740A>G (p.Lys580=)
|
rs2051091768
|
|
NM_001244008.2(KIF1A):c.182C>T (p.Ser61Leu)
|
rs2126098498
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
NM_001244008.2(KIF1A):c.2194C>T (p.Arg732Trp)
|
rs750310823
|
|
NM_001244008.2(KIF1A):c.2280T>C (p.Phe760=)
|
rs1575587120
|
|
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)
|
rs73102625
|
|
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)
|
rs373045276
|
|
NM_001244008.2(KIF1A):c.3132C>T (p.Ile1044=)
|
rs373045276
|
|
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del)
|
rs1167417315
|
|
NM_001244008.2(KIF1A):c.3585-4A>G
|
rs755269372
|
|
NM_001244008.2(KIF1A):c.3977C>T (p.Ser1326Phe)
|
rs2125718681
|
|
NM_001244008.2(KIF1A):c.4122+9C>A
|
rs2125632639
|
|
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)
|
rs879253976
|
|
NM_001244008.2(KIF1A):c.4545G>T (p.Pro1515=)
|
rs540399320
|
|
NM_001244008.2(KIF1A):c.4681A>G (p.Thr1561Ala)
|
rs2125592491
|
|
NM_001244008.2(KIF1A):c.4953C>T (p.Ala1651=)
|
rs2125575026
|
|
NM_001244008.2(KIF1A):c.4964A>G (p.Glu1655Gly)
|
rs2125574925
|
|
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)
|
rs527977882
|
|
NM_001244008.2(KIF1A):c.524G>A (p.Gly175Glu)
|
rs1559528970
|
|
NM_001244008.2(KIF1A):c.720+3G>A
|
rs759856763
|
|
NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn)
|
rs2126054501
|
|
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg)
|
rs748049847
|
|
NM_001253852.3(AP4B1):c.1485A>G (p.Leu495=)
|
rs878886670
|
|
NM_001253852.3(AP4B1):c.472G>A (p.Gly158Ser)
|
rs2101035348
|
|
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=)
|
rs201131192
|
|
NM_001278116.2(L1CAM):c.198-8G>A
|
rs201664558
|
|
NM_001278116.2(L1CAM):c.2209-9C>T
|
rs201704250
|
|
NM_001278116.2(L1CAM):c.2413G>C (p.Gly805Arg)
|
rs2148495013
|
|
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=)
|
rs200863731
|
|
NM_001278116.2(L1CAM):c.644G>A (p.Gly215Asp)
|
rs1175408854
|
|
NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del)
|
rs537259520
|
|
NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del)
|
rs537259520
|
|
NM_001351169.2(NT5C2):c.176-10C>T
|
rs753603040
|
|
NM_001351169.2(NT5C2):c.390-10T>G
|
rs1388307666
|
|
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)
|
rs1060503494
|
|
NM_001371279.1(REEP1):c.182+5G>T
|
rs766166355
|
|
NM_001371279.1(REEP1):c.193T>C (p.Tyr65His)
|
rs2104245077
|
|
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys)
|
rs1553461508
|
|
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)
|
rs121918263
|
|
NM_001371279.1(REEP1):c.344dup (p.Tyr115Ter)
|
rs2104224809
|
|
NM_001371279.1(REEP1):c.379_389dup (p.Ala132fs)
|
rs2104223760
|
|
NM_001371279.1(REEP1):c.417+1G>A
|
rs2104223296
|
|
NM_001371279.1(REEP1):c.477C>T (p.Ile159=)
|
rs2104053665
|
|
NM_001371279.1(REEP1):c.512del (p.Pro171fs)
|
rs387906263
|
|
NM_001371279.1(REEP1):c.52del (p.Tyr18fs)
|
rs2104395088
|
|
NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter)
|
rs2104051740
|
|
NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr)
|
rs1266102026
|
|
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)
|
rs121918262
|
|
NM_001776.6(ENTPD1):c.*6948del
|
rs2141032994
|
|
NM_001776.6(ENTPD1):c.1026G>A (p.Gln342=)
|
rs553887215
|
|
NM_001776.6(ENTPD1):c.1110A>T (p.Leu370Phe)
|
rs2140974452
|
|
NM_001776.6(ENTPD1):c.1494C>T (p.Ile498=)
|
rs565508317
|
|
NM_002156.5(HSPD1):c.1294G>T (p.Val432Phe)
|
rs184516277
|
|
NM_002156.5(HSPD1):c.1434C>G (p.Thr478=)
|
rs199527127
|
|
NM_002156.5(HSPD1):c.1545A>G (p.Glu515=)
|
rs2106070461
|
|
NM_002156.5(HSPD1):c.691A>T (p.Thr231Ser)
|
rs2106076413
|
|
NM_002156.5(HSPD1):c.692C>T (p.Thr231Ile)
|
rs2086128764
|
|
NM_002156.5(HSPD1):c.849A>G (p.Leu283=)
|
rs557196021
|
|
NM_002156.5(HSPD1):c.868A>C (p.Arg290=)
|
rs2106075505
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.1872G>A (p.Val624=)
|
rs765506021
|
|
NM_002693.3(POLG):c.2168G>T (p.Gly723Val)
|
rs2055428060
|
|
NM_002693.3(POLG):c.2171G>T (p.Gly724Val)
|
rs2152062941
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.2994G>C (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.3244G>A (p.Ala1082Thr)
|
rs1237603598
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.3483-13_3483-10dup
|
rs1324794268
|
|
NM_002693.3(POLG):c.522C>G (p.Gly174=)
|
rs766842881
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002860.4(ALDH18A1):c.1036G>A (p.Gly346Arg)
|
rs2139591398
|
|
NM_002860.4(ALDH18A1):c.1111C>T (p.Arg371Ter)
|
rs775201668
|
|
NM_002860.4(ALDH18A1):c.493G>A (p.Gly165Arg)
|
rs2139621221
|
|
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg)
|
rs2139607977
|
|
NM_002860.4(ALDH18A1):c.810C>G (p.Gly270=)
|
rs1317039662
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.1207T>A (p.Cys403Ser)
|
rs2152403786
|
|
NM_003119.4(SPG7):c.1442C>G (p.Thr481Arg)
|
rs376713807
|
|
NM_003119.4(SPG7):c.1450-1_1457del
|
rs768823392
|
|
NM_003119.4(SPG7):c.1617del (p.Val540fs)
|
rs762795756
|
|
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)
|
rs151249432
|
|
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)
|
rs1329063851
|
|
NM_003119.4(SPG7):c.184-5_184-4del
|
rs5818722
|
|
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
|
rs368541637
|
|
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp)
|
rs1350253332
|
|
NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)
|
rs776380988
|
|
NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)
|
rs769602042
|
|
NM_003119.4(SPG7):c.1955G>T (p.Arg652Met)
|
rs1433697104
|
|
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)
|
rs752989523
|
|
NM_003119.4(SPG7):c.20_25dup (p.Leu7_Leu8dup)
|
rs1395154051
|
|
NM_003119.4(SPG7):c.2261C>T (p.Pro754Leu)
|
rs758721226
|
|
NM_003119.4(SPG7):c.2385G>A (p.Lys795=)
|
rs773216042
|
|
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)
|
rs146115797
|
|
NM_003119.4(SPG7):c.50C>G (p.Pro17Arg)
|
rs956304326
|
|
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)
|
rs781285980
|
|
NM_004722.4(AP4M1):c.*124G>A
|
rs146258708
|
|
NM_004722.4(AP4M1):c.1265G>A (p.Arg422Gln)
|
rs150135687
|
|
NM_004722.4(AP4M1):c.255-4T>C
|
rs781069002
|
|
NM_004722.4(AP4M1):c.752A>G (p.Asp251Gly)
|
rs2116653645
|
|
NM_004722.4(AP4M1):c.790T>C (p.Phe264Leu)
|
rs2116654185
|
|
NM_004722.4(AP4M1):c.862G>A (p.Asp288Asn)
|
rs767611212
|
|
NM_004722.4(AP4M1):c.929+5G>A
|
rs1293317548
|
|
NM_004722.4(AP4M1):c.975-6C>G
|
rs2116667853
|
|
NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs)
|
rs772861569
|
|
NM_004733.4(SLC33A1):c.1536G>A (p.Val512=)
|
rs2109302353
|
|
NM_004733.4(SLC33A1):c.1569T>C (p.Gly523=)
|
rs150442784
|
|
NM_004820.5(CYP7B1):c.123-19dup
|
rs8192895
|
|
NM_004820.5(CYP7B1):c.123-9del
|
rs8192895
|
|
NM_004820.5(CYP7B1):c.1304T>C (p.Leu435Pro)
|
rs2129629752
|
|
NM_004820.5(CYP7B1):c.1309T>G (p.Cys437Gly)
|
rs1563536994
|
|
NM_004820.5(CYP7B1):c.250CTT[1] (p.Leu85del)
|
rs1342291953
|
|
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)
|
rs747514385
|
|
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)
|
rs1298132281
|
|
NM_004820.5(CYP7B1):c.75C>A (p.Ala25=)
|
rs536629832
|
|
NM_004820.5(CYP7B1):c.953T>G (p.Val318Gly)
|
rs752671180
|
|
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=)
|
rs75907338
|
|
NM_004984.4(KIF5A):c.2126C>T (p.Ala709Val)
|
rs368671947
|
|
NM_004984.4(KIF5A):c.2563C>T (p.Arg855Cys)
|
rs2140171424
|
|
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe)
|
rs1882602063
|
|
NM_004984.4(KIF5A):c.2956C>T (p.Pro986Ser)
|
rs2140172158
|
|
NM_004984.4(KIF5A):c.2993-6C>A
|
rs1057522322
|
|
NM_004984.4(KIF5A):c.397-9C>A
|
rs777193528
|
|
NM_004984.4(KIF5A):c.543G>A (p.Leu181=)
|
rs2140161229
|
|
NM_004984.4(KIF5A):c.587C>T (p.Thr196Ile)
|
rs2140161296
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_004984.4(KIF5A):c.862C>T (p.Leu288Phe)
|
rs2140162896
|
|
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe)
|
rs761812789
|
|
NM_005619.5(RTN2):c.-170GGC[10]
|
rs3038807
|
|
NM_005619.5(RTN2):c.-170GGC[13]
|
rs3038807
|
|
NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)
|
rs369158895
|
|
NM_005619.5(RTN2):c.1484A>G (p.Tyr495Cys)
|
rs1037969877
|
|
NM_005619.5(RTN2):c.653C>T (p.Thr218Ile)
|
rs2122226808
|
|
NM_005619.5(RTN2):c.68A>G (p.Asp23Gly)
|
rs2122229330
|
|
NM_006459.4(ERLIN1):c.*1247T>C
|
rs2134087908
|
|
NM_006459.4(ERLIN1):c.*1251A>G
|
rs2134087898
|
|
NM_006459.4(ERLIN1):c.753del (p.Phe252fs)
|
rs2134100639
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg)
|
rs147814121
|
|
NM_006612.6(KIF1C):c.1571+3A>G
|
rs2143354334
|
|
NM_006612.6(KIF1C):c.1660G>A (p.Gly554Arg)
|
rs1485258329
|
|
NM_006612.6(KIF1C):c.1750+6_1750+8del
|
rs551276433
|
|
NM_006612.6(KIF1C):c.183G>A (p.Ser61=)
|
rs886041035
|
|
NM_006612.6(KIF1C):c.1937+5G>A
|
rs1393131804
|
|
NM_006612.6(KIF1C):c.2216C>G (p.Pro739Arg)
|
rs376385209
|
|
NM_006612.6(KIF1C):c.2633A>G (p.His878Arg)
|
rs2143392214
|
|
NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln)
|
rs78970955
|
|
NM_006612.6(KIF1C):c.2949C>G (p.Ser983Arg)
|
rs2143393636
|
|
NM_006612.6(KIF1C):c.390T>A (p.Val130=)
|
rs1567719808
|
|
NM_006612.6(KIF1C):c.702G>C (p.Thr234=)
|
rs150944204
|
|
NM_006612.6(KIF1C):c.720+18_720+20del
|
rs10533622
|
|
NM_006612.6(KIF1C):c.720+20del
|
rs10533622
|
|
NM_006612.6(KIF1C):c.720+20dup
|
rs10533622
|
|
NM_006702.4(PNPLA6):c.3916_3918delGAG
|
rs532776939
|
|
NM_006702.5(PNPLA6):c.11C>A (p.Pro4Gln)
|
rs1418357285
|
|
NM_007175.8(ERLIN2):c.188A>C (p.Gln63Pro)
|
rs2129653824
|
|
NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile)
|
rs1338086200
|
|
NM_007175.8(ERLIN2):c.499-11TC[3]
|
rs2129711294
|
|
NM_007215.4(POLG2):c.274C>G (p.Leu92Val)
|
rs1555669595
|
|
NM_007347.5(AP4E1):c.104G>A (p.Arg35Lys)
|
rs1328098445
|
|
NM_007347.5(AP4E1):c.150C>T (p.His50=)
|
rs2141121083
|
|
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)
|
rs142762839
|
|
NM_007347.5(AP4E1):c.2043T>C (p.Ser681=)
|
rs2140914739
|
|
NM_007347.5(AP4E1):c.2901C>A (p.Phe967Leu)
|
rs2140935330
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
NM_014363.6(SACS):c.11326A>G (p.Ile3776Val)
|
rs770269690
|
|
NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del)
|
rs2137565671
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala)
|
rs2137551379
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln)
|
rs2137645971
|
|
NM_014363.6(SACS):c.237dup (p.Ser80fs)
|
rs770311689
|
|
NM_014363.6(SACS):c.2814T>C (p.Ile938=)
|
rs909826115
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.3253C>T (p.His1085Tyr)
|
rs1869118837
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3450A>G (p.Thr1150=)
|
rs2137635273
|
|
NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser)
|
rs61326562
|
|
NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu)
|
rs61548169
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5385G>A (p.Met1795Ile)
|
rs2137619273
|
|
NM_014363.6(SACS):c.5450C>T (p.Thr1817Met)
|
rs898102157
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.605-8C>T
|
rs2137729530
|
|
NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr)
|
rs373982540
|
|
NM_014363.6(SACS):c.6663del (p.Lys2221fs)
|
rs1555251699
|
|
NM_014363.6(SACS):c.6978C>G (p.Ala2326=)
|
rs2137604768
|
|
NM_014363.6(SACS):c.7546A>G (p.Thr2516Ala)
|
rs2137599256
|
|
NM_014363.6(SACS):c.7724T>G (p.Ile2575Arg)
|
rs2137597923
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)
|
rs2137590717
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)
|
rs370913893
|
|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
|
NM_014363.6(SACS):c.9081dup (p.Asp3028Ter)
|
rs2137586930
|
|
NM_014363.6(SACS):c.9119dup (p.Asn3040fs)
|
rs1435126137
|
|
NM_014844.5(TECPR2):c.*1716G>C
|
rs56232046
|
|
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)
|
rs572609303
|
|
NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser)
|
rs186595127
|
|
NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg)
|
rs186595127
|
|
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)
|
rs376646346
|
|
NM_014844.5(TECPR2):c.3500C>T (p.Pro1167Leu)
|
rs2139755269
|
|
NM_014844.5(TECPR2):c.3913G>A (p.Ala1305Thr)
|
rs573719989
|
|
NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=)
|
rs777406369
|
|
NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile)
|
rs757191728
|
|
NM_014844.5(TECPR2):c.708A>G (p.Ser236=)
|
rs2139716000
|
|
NM_014844.5(TECPR2):c.952-12_952-6dup
|
rs565236204
|
|
NM_014844.5(TECPR2):c.952-13_952-6dup
|
rs565236204
|
|
NM_014844.5(TECPR2):c.952-15_952-6dup
|
rs565236204
|
|
NM_014844.5(TECPR2):c.952-6dup
|
rs565236204
|
|
NM_014844.5(TECPR2):c.952-7_952-6del
|
rs565236204
|
|
NM_014844.5(TECPR2):c.952-7_952-6dup
|
rs565236204
|
|
NM_014844.5(TECPR2):c.952-8_952-6del
|
rs565236204
|
|
NM_014844.5(TECPR2):c.952-9_952-6del
|
rs565236204
|
|
NM_014846.4(WASHC5):c.1238T>G (p.Leu413Arg)
|
rs1064796966
|
|
NM_014846.4(WASHC5):c.1488A>G (p.Arg496=)
|
rs777952872
|
|
NM_014846.4(WASHC5):c.1550A>T (p.Asn517Ile)
|
rs368546546
|
|
NM_014846.4(WASHC5):c.1688+10del
|
rs757113799
|
|
NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe)
|
rs80338866
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014846.4(WASHC5):c.1885A>T (p.Ile629Phe)
|
rs1277499447
|
|
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu)
|
rs1586359734
|
|
NM_014846.4(WASHC5):c.1966C>G (p.Leu656Val)
|
rs1235925680
|
|
NM_014846.4(WASHC5):c.2955-6C>G
|
rs1424773576
|
|
NM_014846.4(WASHC5):c.3470C>T (p.Thr1157Ile)
|
rs766201677
|
|
NM_014855.3(AP5Z1):c.*2004C>T
|
rs143513418
|
|
NM_014855.3(AP5Z1):c.1032C>T (p.Tyr344=)
|
rs1188442099
|
|
NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del)
|
rs1339701497
|
|
NM_014855.3(AP5Z1):c.107A>G (p.Asp36Gly)
|
rs752281685
|
|
NM_014855.3(AP5Z1):c.1315C>G (p.Leu439Val)
|
rs113014863
|
|
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)
|
rs186003800
|
|
NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)
|
rs535174478
|
|
NM_014855.3(AP5Z1):c.1674G>T (p.Thr558=)
|
rs374928584
|
|
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)
|
rs773950276
|
|
NM_014855.3(AP5Z1):c.1740G>T (p.Ala580=)
|
rs773950276
|
|
NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn)
|
rs1781728649
|
|
NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val)
|
rs867457810
|
|
NM_014855.3(AP5Z1):c.2001CAA[1] (p.Asn668del)
|
rs768558699
|
|
NM_014855.3(AP5Z1):c.2105_2116dup (p.Met702_Leu705dup)
|
rs746548308
|
|
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del)
|
rs139155501
|
|
NM_014855.3(AP5Z1):c.2379G>C (p.Thr793=)
|
rs77393809
|
|
NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys)
|
rs199577559
|
|
NM_014855.3(AP5Z1):c.295del (p.Leu99fs)
|
rs2115103191
|
|
NM_014855.3(AP5Z1):c.529A>G (p.Ser177Gly)
|
rs1781449646
|
|
NM_014855.3(AP5Z1):c.699A>G (p.Thr233=)
|
rs761636459
|
|
NM_014855.3(AP5Z1):c.868del (p.Arg290fs)
|
rs756556933
|
|
NM_014855.3(AP5Z1):c.973C>A (p.Leu325Met)
|
rs766343074
|
|
NM_014855.3(AP5Z1):c.978G>A (p.Val326=)
|
rs1463923803
|
|
NM_014946.4(SPAST):c.1005-1G>C
|
rs1553315318
|
|
NM_014946.4(SPAST):c.1082del (p.Pro361fs)
|
rs2148734593
|
|
NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr)
|
rs1553315355
|
|
NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys)
|
rs1553315356
|
|
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)
|
rs1060499670
|
|
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)
|
rs1573139616
|
|
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)
|
rs121908514
|
|
NM_014946.4(SPAST):c.1208_1212del (p.Thr402_Phe403insTer)
|
rs1553317029
|
|
NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)
|
rs1553317030
|
|
NM_014946.4(SPAST):c.1215_1218del (p.Asn405fs)
|
rs2148746358
|
|
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)
|
rs587777757
|
|
NM_014946.4(SPAST):c.1267G>C (p.Val423Leu)
|
rs1553318168
|
|
NM_014946.4(SPAST):c.1267G>T (p.Val423Leu)
|
rs1553318168
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
NM_014946.4(SPAST):c.1321+1G>T
|
rs2148753724
|
|
NM_014946.4(SPAST):c.1322-3T>G
|
rs2148753899
|
|
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly)
|
rs2148753923
|
|
NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)
|
rs2148753960
|
|
NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly)
|
rs2148753986
|
|
NM_014946.4(SPAST):c.1361dup (p.His455fs)
|
rs1573156283
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1379G>A (p.Arg460His)
|
rs1553318241
|
|
NM_014946.4(SPAST):c.1382del (p.Leu461fs)
|
rs2148754032
|
|
NM_014946.4(SPAST):c.1388C>A (p.Thr463Asn)
|
rs2148754049
|
|
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)
|
rs1679556566
|
|
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)
|
rs1679556566
|
|
NM_014946.4(SPAST):c.1433A>T (p.Asp478Val)
|
rs2148754294
|
|
NM_014946.4(SPAST):c.1477G>C (p.Asp493His)
|
rs1060499939
|
|
NM_014946.4(SPAST):c.1493+2_1493+5del
|
rs1558337180
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)
|
rs864622162
|
|
NM_014946.4(SPAST):c.1536+5G>A
|
rs1679734284
|
|
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)
|
rs1553319093
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
NM_014946.4(SPAST):c.167C>T (p.Pro56Leu)
|
rs1676399509
|
|
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)
|
rs121908518
|
|
NM_014946.4(SPAST):c.1689_1690insACTAAAACC (p.Glu563_Leu564insThrLysThr)
|
rs2148762766
|
|
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)
|
rs778023258
|
|
NM_014946.4(SPAST):c.1775_1777del (p.Ile592del)
|
rs2148769305
|
|
NM_014946.4(SPAST):c.1840del (p.Thr614fs)
|
rs2148769396
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_014946.4(SPAST):c.286del (p.Ala96fs)
|
rs1573028017
|
|
NM_014946.4(SPAST):c.290C>G (p.Pro97Arg)
|
rs1314430315
|
|
NM_014946.4(SPAST):c.358del (p.His120fs)
|
rs2148685798
|
|
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)
|
rs1553394620
|
|
NM_014946.4(SPAST):c.390_391del (p.Leu131fs)
|
rs2148685848
|
|
NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg)
|
rs2148685859
|
|
NM_014946.4(SPAST):c.415+10G>T
|
rs1354537232
|
|
NM_014946.4(SPAST):c.426G>A (p.Lys142=)
|
rs2148708873
|
|
NM_014946.4(SPAST):c.562del (p.Ala188fs)
|
rs1553400002
|
|
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)
|
rs558882317
|
|
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)
|
rs1553314902
|
|
NM_014946.4(SPAST):c.843_846dup (p.Gly283fs)
|
rs2148733110
|
|
NM_014946.4(SPAST):c.863C>T (p.Thr288Ile)
|
rs148680726
|
|
NM_014946.4(SPAST):c.869A>G (p.Lys290Arg)
|
rs2148733158
|
|
NM_014946.4(SPAST):c.871-1G>A
|
rs1057524526
|
|
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs)
|
rs2148734025
|
|
NM_014946.4(SPAST):c.962_974del (p.Asp321fs)
|
rs1553315223
|
|
NM_015046.7(SETX):c.178-6C>A
|
rs2131558760
|
|
NM_015046.7(SETX):c.1840A>G (p.Ile614Val)
|
rs1318709540
|
|
NM_015046.7(SETX):c.3031G>A (p.Gly1011Arg)
|
rs1564542862
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015046.7(SETX):c.3981A>G (p.Lys1327=)
|
rs1308547907
|
|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5617G>A (p.Glu1873Lys)
|
rs775692275
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
NM_015046.7(SETX):c.6187A>G (p.Ser2063Gly)
|
rs1844076700
|
|
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)
|
rs774068411
|
|
NM_015046.7(SETX):c.7143_7144insTTTCG (p.Lys2382fs)
|
rs2131148501
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
NM_015046.7(SETX):c.7554T>G (p.Ile2518Met)
|
rs750466786
|
|
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys)
|
rs139819321
|
|
NM_015087.5(SPART):c.265C>T (p.Arg89Cys)
|
rs369491741
|
|
NM_015087.5(SPART):c.918T>A (p.Phe306Leu)
|
rs2137515774
|
|
NM_015214.3(DDHD2):c.856C>T (p.Gln286Ter)
|
rs764638887
|
|
NM_015346.4(ZFYVE26):c.1141G>C (p.Glu381Gln)
|
rs2040162265
|
|
NM_015346.4(ZFYVE26):c.1659A>C (p.Ser553=)
|
rs2140243482
|
|
NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr)
|
rs531152715
|
|
NM_015346.4(ZFYVE26):c.1944T>C (p.His648=)
|
rs1466130502
|
|
NM_015346.4(ZFYVE26):c.2174G>T (p.Arg725Leu)
|
rs374310868
|
|
NM_015346.4(ZFYVE26):c.227C>A (p.Ala76Asp)
|
rs770415843
|
|
NM_015346.4(ZFYVE26):c.2553+8G>A
|
rs1355900379
|
|
NM_015346.4(ZFYVE26):c.2609_2633del (p.Met870fs)
|
rs2140234090
|
|
NM_015346.4(ZFYVE26):c.266G>A (p.Arg89Gln)
|
rs138664542
|
|
NM_015346.4(ZFYVE26):c.3129A>C (p.Gln1043His)
|
rs2140227998
|
|
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)
|
rs7156492
|
|
NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=)
|
rs7156492
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
NM_015346.4(ZFYVE26):c.363+1G>A
|
rs935301743
|
|
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)
|
rs773333879
|
|
NM_015346.4(ZFYVE26):c.4024C>G (p.Arg1342Gly)
|
rs368778263
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs)
|
rs1566881181
|
|
NM_015346.4(ZFYVE26):c.4975-5A>G
|
rs2140212689
|
|
NM_015346.4(ZFYVE26):c.5073G>A (p.Val1691=)
|
rs2140212459
|
|
NM_015346.4(ZFYVE26):c.5434G>A (p.Asp1812Asn)
|
rs2140207374
|
|
NM_015346.4(ZFYVE26):c.5771G>A (p.Ser1924Asn)
|
rs2039094968
|
|
NM_015346.4(ZFYVE26):c.6033G>A (p.Val2011=)
|
rs2140194830
|
|
NM_015346.4(ZFYVE26):c.6253_6255del (p.Lys2085del)
|
rs1555394387
|
|
NM_015346.4(ZFYVE26):c.6897G>A (p.Leu2299=)
|
rs2140184412
|
|
NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=)
|
rs550301037
|
|
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)
|
rs1595625099
|
|
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)
|
rs2039539644
|
|
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del)
|
rs1595625206
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
|
rs864622520
|
|
NM_016630.7(SPG21):c.-25+7del
|
rs2140462357
|
|
NM_016630.7(SPG21):c.199A>T (p.Thr67Ser)
|
rs2140441198
|
|
NM_016630.7(SPG21):c.304A>G (p.Lys102Glu)
|
rs2140431580
|
|
NM_016630.7(SPG21):c.613C>T (p.Gln205Ter)
|
rs2140415380
|
|
NM_016630.7(SPG21):c.814C>A (p.His272Asn)
|
rs371953772
|
|
NM_016630.7(SPG21):c.819G>T (p.Leu273Phe)
|
rs2140402170
|
|
NM_016630.7(SPG21):c.820C>A (p.Leu274Met)
|
rs534496682
|
|
NM_020435.4(GJC2):c.*5G>T
|
rs78587210
|
|
NM_020435.4(GJC2):c.1191T>C (p.Ala397=)
|
rs1417076615
|
|
NM_020435.4(GJC2):c.174G>T (p.Thr58=)
|
rs757481205
|
|
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup)
|
rs746050475
|
|
NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del)
|
rs750812960
|
|
NM_020919.4(ALS2):c.1359G>C (p.Gln453His)
|
rs796181791
|
|
NM_020919.4(ALS2):c.155A>G (p.His52Arg)
|
rs1694137525
|
|
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly)
|
rs773125812
|
|
NM_020919.4(ALS2):c.2583A>G (p.Ala861=)
|
rs1260262428
|
|
NM_020919.4(ALS2):c.802G>A (p.Ala268Thr)
|
rs2106088370
|
|
NM_020944.3(GBA2):c.-162G>A
|
rs2132025854
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_021830.5(TWNK):c.1395A>C (p.Glu465Asp)
|
rs770345181
|
|
NM_021830.5(TWNK):c.1614C>T (p.Ile538=)
|
rs2133942190
|
|
NM_021830.5(TWNK):c.1711G>A (p.Ala571Thr)
|
rs2133942468
|
|
NM_021830.5(TWNK):c.1972G>A (p.Gly658Arg)
|
rs868535097
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
NM_021830.5(TWNK):c.478C>T (p.Arg160Ter)
|
rs1851660058
|
|
NM_024306.5(FA2H):c.133G>A (p.Gly45Arg)
|
rs1247665387
|
|
NM_024306.5(FA2H):c.227G>A (p.Trp76Ter)
|
rs1225330805
|
|
NM_024306.5(FA2H):c.956A>G (p.His319Arg)
|
rs2144601571
|
|
NM_024989.4(PGAP1):c.1723T>C (p.Tyr575His)
|
rs1162811688
|
|
NM_024989.4(PGAP1):c.179G>A (p.Arg60His)
|
rs2125840414
|
|
NM_024989.4(PGAP1):c.492T>G (p.Ala164=)
|
rs1246230813
|
|
NM_024989.4(PGAP1):c.659C>G (p.Thr220Arg)
|
rs774987863
|
|
NM_024989.4(PGAP1):c.808-7_808-3del
|
rs570708925
|
|
NM_024989.4(PGAP1):c.84C>G (p.Val28=)
|
rs144502622
|
|
NM_024989.4(PGAP1):c.873G>A (p.Leu291=)
|
rs2125822923
|
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
NM_025137.4(SPG11):c.1377C>T (p.Gly459=)
|
rs768183449
|
|
NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter)
|
rs2141105806
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
NM_025137.4(SPG11):c.169C>T (p.Leu57=)
|
rs777780299
|
|
NM_025137.4(SPG11):c.1939A>C (p.Ile647Leu)
|
rs375256495
|
|
NM_025137.4(SPG11):c.2119T>G (p.Phe707Val)
|
rs2141038096
|
|
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val)
|
rs779467011
|
|
NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter)
|
rs2141027825
|
|
NM_025137.4(SPG11):c.258-6del
|
rs373234269
|
|
NM_025137.4(SPG11):c.2621-15dup
|
rs577083743
|
|
NM_025137.4(SPG11):c.2633A>T (p.Tyr878Phe)
|
rs748331814
|
|
NM_025137.4(SPG11):c.277C>T (p.Arg93Cys)
|
rs764731214
|
|
NM_025137.4(SPG11):c.278del (p.Arg93fs)
|
rs2141130246
|
|
NM_025137.4(SPG11):c.3036C>A (p.Tyr1012Ter)
|
rs2083566245
|
|
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)
|
rs750663981
|
|
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly)
|
rs746116309
|
|
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)
|
rs564171625
|
|
NM_025137.4(SPG11):c.4118A>G (p.Gln1373Arg)
|
rs2140973544
|
|
NM_025137.4(SPG11):c.4161+9C>G
|
rs1555451101
|
|
NM_025137.4(SPG11):c.4162-4C>T
|
rs777010404
|
|
NM_025137.4(SPG11):c.42C>A (p.Gly14=)
|
rs376542524
|
|
NM_025137.4(SPG11):c.4717C>T (p.Leu1573=)
|
rs560868702
|
|
NM_025137.4(SPG11):c.5073G>A (p.Arg1691=)
|
rs2082747265
|
|
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)
|
rs1462607878
|
|
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys)
|
rs762524521
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6449_6455del (p.Leu2150fs)
|
rs1304713296
|
|
NM_025137.4(SPG11):c.6477+4A>G
|
rs312262780
|
|
NM_025137.4(SPG11):c.6477+5G>T
|
rs2140922964
|
|
NM_025137.4(SPG11):c.6500del (p.Gly2167fs)
|
rs2140921013
|
|
NM_025137.4(SPG11):c.6555T>A (p.Phe2185Leu)
|
rs2140920859
|
|
NM_025137.4(SPG11):c.6754G>A (p.Glu2252Lys)
|
rs2140916872
|
|
NM_025137.4(SPG11):c.6780G>A (p.Gln2260=)
|
rs770643416
|
|
NM_025137.4(SPG11):c.6867G>C (p.Gln2289His)
|
rs762598343
|
|
NM_025137.4(SPG11):c.7152-9_7152-8insGTTTC
|
rs2140908346
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_031448.6(C19orf12):c.166del
|
rs398122409
|
|
NM_144599.5(NIPA1):c.11C>T (p.Ala4Val)
|
rs1158637890
|
|
NM_144599.5(NIPA1):c.21_23del (p.Ala16del)
|
rs769916931
|
|
NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del)
|
rs1555371600
|
|
NM_144599.5(NIPA1):c.222C>T (p.Ile74=)
|
rs778472114
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)
|
rs104894490
|
|
NM_152269.5(MTRFR):c.110C>T (p.Ala37Val)
|
rs2138792701
|
|
NM_152269.5(MTRFR):c.234C>A (p.Thr78=)
|
rs140942886
|
|
NM_152269.5(MTRFR):c.246G>A (p.Val82=)
|
rs1593287730
|
|
NM_152415.3(VPS37A):c.96G>T (p.Leu32=)
|
rs199577037
|
|
NM_183075.3(CYP2U1):c.*132G>T
|
rs80203932
|
|
NM_183075.3(CYP2U1):c.1172C>T (p.Ala391Val)
|
rs868605672
|
|
NM_183075.3(CYP2U1):c.118T>C (p.Cys40Arg)
|
rs1274337276
|
|
NM_183075.3(CYP2U1):c.1281G>T (p.Glu427Asp)
|
rs2126201147
|
|
NM_183075.3(CYP2U1):c.1288+1G>A
|
rs781551534
|
|
NM_183075.3(CYP2U1):c.1348C>A (p.His450Asn)
|
rs2126202687
|
|
NM_183075.3(CYP2U1):c.426G>T (p.Gln142His)
|
rs771474750
|
|
NM_183075.3(CYP2U1):c.488A>T (p.Lys163Met)
|
rs1382348931
|
|
NM_183075.3(CYP2U1):c.925C>T (p.Leu309=)
|
rs2126199509
|
|
NM_183075.3(CYP2U1):c.986G>T (p.Arg329Met)
|
rs778415352
|
|