ClinVar Miner

List of variants reported as benign for Spastic paraplegia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 940
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HGVS dbSNP gnomAD frequency
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_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_024306.5(FA2H):c.879C>T (p.Pro293=) rs2301865 0.77852
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_015346.4(ZFYVE26):c.2112T>C (p.Pro704=) rs12891164 0.68800
NM_020944.3(GBA2):c.1688-10_1688-9insG rs3833700 0.68762
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_183075.3(CYP2U1):c.1127-17T>C rs6856745 0.63755
NM_001385875.1(ZFYVE27):c.665-20G>T rs3750614 0.61549
NM_007347.5(AP4E1):c.222+18G>A rs1147129 0.56600
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_001385875.1(ZFYVE27):c.-1G>A rs3818876 0.51770
NM_007347.5(AP4E1):c.1852-3243G>A rs7169888 0.48729
NM_004733.4(SLC33A1):c.964-1701T>A rs7636224 0.43634
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
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_015346.4(ZFYVE26):c.2112= (p.Pro704=) rs12891164 0.31200
NM_014231.5(VAMP1):c.252C>A (p.Ala84=) rs2072375 0.27430
NM_001478.5(B4GALNT1):c.103C>G (p.Leu35Val) rs774896 0.27238
NM_004984.4(KIF5A):c.36+5C>T rs775249 0.25100
NM_001478.5(B4GALNT1):c.666G>T (p.Leu222=) rs715930 0.22752
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_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_024306.5(FA2H):c.888A>G (p.Val296=) rs11554621 0.15840
NM_005619.5(RTN2):c.79+7G>T rs2298887 0.15387
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.14152
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_024306.5(FA2H):c.1039+8T>C rs6564160 0.09790
NM_015346.4(ZFYVE26):c.2692A>T (p.Thr898Ser) rs17192170 0.09199
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_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly) rs3804769 0.07382
NM_020944.3(GBA2):c.33C>T (p.Thr11=) rs34312177 0.06991
NM_002156.5(HSPD1):c.1140C>T (p.Val380=) rs61736612 0.06094
NM_001278116.2(L1CAM):c.2209-6C>T rs7885771 0.05725
NM_020435.4(GJC2):c.966G>C (p.Ala322=) rs4653910 0.05014
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_001385875.1(ZFYVE27):c.456-12C>T rs12264401 0.04525
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) rs72554624 0.04177
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03993
NM_001012301.4(ARSI):c.669C>T (p.His223=) rs77943970 0.03854
NM_001478.5(B4GALNT1):c.383+19C>T rs13353074 0.03608
NM_015346.4(ZFYVE26):c.3757C>T (p.Leu1253=) rs34296097 0.03528
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_020944.3(GBA2):c.1795+7G>A rs73438754 0.03415
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689 0.03409
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) rs1042512 0.03189
NM_004187.5(KDM5C):c.522+19G>A rs41308052 0.03118
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NC_000008.11:g.64798895G>C rs117576566 0.02967
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378 0.02833
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_015346.4(ZFYVE26):c.2332+7del rs145183291 0.02598
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) rs16887018 0.02568
NM_001278116.2(L1CAM):c.197+17G>A rs5987174 0.02545
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_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met) rs35471427 0.02295
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_001012301.4(ARSI):c.801G>A (p.Val267=) rs114744538 0.01995
NM_001478.5(B4GALNT1):c.1119G>A (p.Val373=) rs61649746 0.01969
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_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) rs75060573 0.01901
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_015346.4(ZFYVE26):c.7407T>C (p.Asp2469=) rs35106153 0.01846
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01697
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_183075.3(CYP2U1):c.490+6C>T rs147612190 0.01512
NM_001278116.2(L1CAM):c.1704-14C>T rs140240430 0.01472
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_001012301.4(ARSI):c.91G>T (p.Gly31Trp) rs77196282 0.01426
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser) rs79325774 0.01424
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_002156.5(HSPD1):c.428-10G>A rs111401572 0.01367
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) rs75130619 0.01213
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_001012301.4(ARSI):c.1383C>T (p.Ala461=) rs112583032 0.01030
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) rs369603991 0.01028
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_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr) rs61746722 0.00962
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe) rs117228915 0.00888
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_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_004984.4(KIF5A):c.2023+18C>T rs192960012 0.00832
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_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
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_007347.5(AP4E1):c.542+11T>G rs58882998 0.00762
NM_001478.5(B4GALNT1):c.1547C>T (p.Ala516Val) rs17454674 0.00756
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg) rs140540720 0.00750
NM_001478.5(B4GALNT1):c.1024C>T (p.Leu342=) rs11616065 0.00737
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_020944.3(GBA2):c.946G>A (p.Gly316Arg) rs113785628 0.00736
NM_020944.3(GBA2):c.786+6G>C rs28584995 0.00732
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_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_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_005619.5(RTN2):c.792C>A (p.Phe264Leu) rs61745812 0.00699
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970 0.00691
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_020944.3(GBA2):c.1037C>T (p.Thr346Met) rs34353044 0.00613
NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=) rs116366646 0.00608
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00606
NM_002156.5(HSPD1):c.144C>T (p.Ala48=) rs11551346 0.00595
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu) rs112316490 0.00564
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_001478.5(B4GALNT1):c.812-7A>T rs78105569 0.00555
NM_005619.5(RTN2):c.444C>G (p.Gly148=) rs139232850 0.00550
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
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_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) rs17419023 0.00508
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_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_007347.5(AP4E1):c.1067-16G>A rs115042917 0.00485
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_015346.4(ZFYVE26):c.6588+7C>T rs186040735 0.00471
NM_004733.4(SLC33A1):c.1482+7A>G rs149522913 0.00458
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_005619.5(RTN2):c.351A>G (p.Gln117=) rs144028452 0.00450
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_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) rs73640833 0.00445
NM_007175.8(ERLIN2):c.816T>C (p.Asn272=) rs142722211 0.00412
NM_015346.4(ZFYVE26):c.5484+13G>A rs140117984 0.00407
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293 0.00388
NM_005619.5(RTN2):c.285A>G (p.Glu95=) rs146004780 0.00381
NM_001012301.4(ARSI):c.87C>T (p.Ala29=) rs200012526 0.00369
NM_015346.4(ZFYVE26):c.5653+16G>A rs140437859 0.00367
NM_002156.5(HSPD1):c.1216-9C>T rs189395138 0.00361
NM_015346.4(ZFYVE26):c.2401+13C>G rs77104978 0.00360
NM_183075.3(CYP2U1):c.10C>T (p.Pro4Ser) rs371029660 0.00352
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=) rs144007962 0.00349
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) rs144922627 0.00332
NM_001478.5(B4GALNT1):c.768G>A (p.Pro256=) rs144400738 0.00329
NM_001012301.4(ARSI):c.403C>T (p.Leu135=) rs147408633 0.00327
NM_001478.5(B4GALNT1):c.1455C>G (p.Ser485=) rs145611777 0.00327
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_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992 0.00291
NM_001012301.4(ARSI):c.684C>T (p.Pro228=) rs112896077 0.00288
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_007347.5(AP4E1):c.852A>G (p.Leu284=) rs114575519 0.00287
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266 0.00285
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met) rs148552744 0.00276
NM_015346.4(ZFYVE26):c.2401+11T>A rs191741115 0.00274
NM_001012301.4(ARSI):c.894T>C (p.Asn298=) rs77878118 0.00272
NM_015346.4(ZFYVE26):c.6849A>G (p.Thr2283=) rs74935043 0.00272
NM_015346.4(ZFYVE26):c.7371+18C>T rs149769693 0.00272
NM_014363.6(SACS):c.5307T>C (p.His1769=) rs145747008 0.00264
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser) rs577325764 0.00260
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
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_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_004984.4(KIF5A):c.446-18T>C rs188999300 0.00237
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_015346.4(ZFYVE26):c.7417-5G>C rs201771769 0.00236
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_014231.5(VAMP1):c.289-13C>T rs137903255 0.00226
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447 0.00220
NM_024306.5(FA2H):c.847G>A (p.Val283Ile) rs138244546 0.00220
NM_005619.5(RTN2):c.929C>A (p.Pro310His) rs141012670 0.00218
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile) rs142676629 0.00214
NM_001385875.1(ZFYVE27):c.238C>T (p.Leu80Phe) rs145356389 0.00204
NM_015346.4(ZFYVE26):c.453C>T (p.Ser151=) rs75391113 0.00203
NM_015346.4(ZFYVE26):c.1933A>G (p.Met645Val) rs77129887 0.00201
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302 0.00192
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) rs140017632 0.00191
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533 0.00190
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala) rs34979921 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_005619.5(RTN2):c.1274G>A (p.Arg425Gln) rs35461805 0.00177
NM_001012301.4(ARSI):c.1209C>G (p.Ser403=) rs151025550 0.00171
NM_004984.4(KIF5A):c.2433+19G>A rs114929380 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly) rs149276487 0.00166
NM_001012301.4(ARSI):c.1242C>T (p.Ala414=) rs148519839 0.00155
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro) rs200545714 0.00152
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_015346.4(ZFYVE26):c.4401C>T (p.Pro1467=) rs138543433 0.00148
NM_001478.5(B4GALNT1):c.1135C>T (p.Leu379=) rs151177784 0.00147
NM_014846.4(WASHC5):c.*3del rs569426560 0.00146
NM_001478.5(B4GALNT1):c.1385-10C>T rs200524912 0.00143
NM_002156.5(HSPD1):c.700+8C>T rs185384719 0.00143
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=) rs143955805 0.00143
NM_007175.8(ERLIN2):c.557+8T>C rs181608326 0.00141
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu) rs148477072 0.00141
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_001478.5(B4GALNT1):c.880G>A (p.Ala294Thr) rs147301375 0.00138
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) rs61755731 0.00131
NM_020944.3(GBA2):c.1146G>A (p.Thr382=) rs144060698 0.00126
NM_001385875.1(ZFYVE27):c.876+15C>T rs202196759 0.00124
NM_002156.5(HSPD1):c.603A>G (p.Val201=) rs146598485 0.00118
NM_015346.4(ZFYVE26):c.5799C>T (p.Ser1933=) rs145858625 0.00115
NM_014363.6(SACS):c.2185+16A>G rs368628225 0.00113
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=) rs147494935 0.00113
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln) rs150230201 0.00113
NM_001012301.4(ARSI):c.378G>A (p.Leu126=) rs113307962 0.00111
NM_014363.6(SACS):c.13374C>T (p.Phe4458=) rs148914536 0.00111
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=) rs200243306 0.00105
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=) rs112575270 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_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_007175.8(ERLIN2):c.649+9G>A rs187766017 0.00096
NM_001278116.2(L1CAM):c.3530+8G>A rs200870843 0.00095
NM_001385875.1(ZFYVE27):c.269-16G>A rs117049029 0.00092
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser) rs148983337 0.00086
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563 0.00077
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
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_004187.5(KDM5C):c.408G>C (p.Arg136=) rs149293316 0.00074
NM_020435.4(GJC2):c.147C>T (p.Asp49=) rs139992251 0.00071
NM_020435.4(GJC2):c.528G>A (p.Glu176=) rs201796910 0.00071
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_015346.4(ZFYVE26):c.273+13A>G rs150070634 0.00070
NM_007175.8(ERLIN2):c.819+12G>A rs117553056 0.00068
NM_024306.5(FA2H):c.537G>A (p.Leu179=) rs75711361 0.00068
NM_024306.5(FA2H):c.363+17G>T rs191938124 0.00067
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_006517.5(SLC16A2):c.447C>T (p.Leu149=) rs200444038 0.00066
NM_001012301.4(ARSI):c.1239C>T (p.Thr413=) rs73268774 0.00065
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_015346.4(ZFYVE26):c.3626+11C>T rs200858645 0.00060
NM_002156.5(HSPD1):c.18A>G (p.Thr6=) rs79630442 0.00059
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_007175.8(ERLIN2):c.558-20C>T rs76777169 0.00055
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) rs146526273 0.00054
NM_004984.4(KIF5A):c.2403C>T (p.Phe801=) rs149934878 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=) rs139178593 0.00052
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_001128126.3(AP4S1):c.306+4283C>T rs143795469 0.00050
NM_001128126.3(AP4S1):c.154T>C (p.Tyr52His) rs150801272 0.00048
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004187.5(KDM5C):c.3411G>A (p.Ala1137=) rs142690298 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_014363.6(SACS):c.3637T>C (p.Leu1213=) rs577638741 0.00043
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln) rs148661902 0.00042
NM_004187.5(KDM5C):c.3996T>A (p.Ala1332=) rs141284087 0.00041
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_020944.3(GBA2):c.1582+14G>A rs375641704 0.00039
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) rs199661695 0.00037
NM_001278116.2(L1CAM):c.806+18G>A rs200497143 0.00037
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=) rs143515214 0.00035
NM_004733.4(SLC33A1):c.288A>C (p.Pro96=) rs200885656 0.00035
NM_007347.5(AP4E1):c.421-20T>C rs146679593 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_015346.4(ZFYVE26):c.2481C>A (p.Pro827=) rs139283212 0.00033
NM_015346.4(ZFYVE26):c.7371+14C>T rs537136372 0.00033
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_005619.5(RTN2):c.1241+12C>T rs185630222 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_015346.4(ZFYVE26):c.606G>C (p.Arg202=) rs187303187 0.00032
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) rs185418119 0.00031
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_005619.5(RTN2):c.560-8C>T rs200744554 0.00031
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_005619.5(RTN2):c.1450+17G>A rs200479692 0.00029
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_004187.5(KDM5C):c.3935G>A (p.Arg1312His) rs971564188 0.00028
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_020944.3(GBA2):c.1395G>A (p.Pro465=) rs149501146 0.00027
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_001478.5(B4GALNT1):c.585A>G (p.Gly195=) rs149948335 0.00024
NM_001385875.1(ZFYVE27):c.508G>A (p.Ala170Thr) rs555051885 0.00022
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_004984.4(KIF5A):c.60C>T (p.Asn20=) rs200876187 0.00021
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys) rs200789237 0.00020
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=) rs114935472 0.00020
NM_020944.3(GBA2):c.2367C>T (p.Asn789=) rs143345363 0.00020
NM_001278116.2(L1CAM):c.2749+18C>T rs201341092 0.00019
NM_004187.5(KDM5C):c.1734C>T (p.Ser578=) rs200941258 0.00019
NM_004187.5(KDM5C):c.523-3C>T rs371886616 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004984.4(KIF5A):c.1294-10C>A rs530832211 0.00019
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys) rs200340910 0.00019
NM_001278116.2(L1CAM):c.1547-18C>T rs200876938 0.00018
NM_004187.5(KDM5C):c.151-7C>T rs367696630 0.00018
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00018
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078 0.00018
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=) rs2071643 0.00017
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) rs150419364 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_001278116.2(L1CAM):c.1329T>G (p.Thr443=) rs782415528 0.00016
NM_004187.5(KDM5C):c.3997T>G (p.Ser1333Ala) rs146572363 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_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_001012301.4(ARSI):c.1095C>T (p.Ala365=) rs76556550 0.00014
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) rs4898371 0.00014
NM_004187.5(KDM5C):c.4117+9A>G rs367909568 0.00014
NM_004187.5(KDM5C):c.4587G>A (p.Ala1529=) rs372882867 0.00014
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) rs147837803 0.00014
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=) rs759326217 0.00014
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr) rs150615169 0.00014
NM_183075.3(CYP2U1):c.1377G>A (p.Pro459=) rs138472735 0.00014
NM_001278116.2(L1CAM):c.2853C>T (p.Tyr951=) rs148187017 0.00013
NM_001278116.2(L1CAM):c.3322+7C>G rs200954919 0.00013
NM_004187.5(KDM5C):c.535C>T (p.Arg179Cys) rs782726212 0.00013
NM_006517.5(SLC16A2):c.634G>A (p.Ala212Thr) rs376266144 0.00013
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347 0.00012
NM_001278116.2(L1CAM):c.524-20G>A rs188071191 0.00012
NM_007347.5(AP4E1):c.1815C>T (p.Ser605=) rs759539551 0.00012
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile) rs368089670 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_014363.6(SACS):c.12451C>T (p.Leu4151=) rs780701057 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_015346.4(ZFYVE26):c.4974+12C>T rs200969714 0.00011
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_004187.5(KDM5C):c.2877T>C (p.Ser959=) rs782391730 0.00010
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_006517.5(SLC16A2):c.23G>A (p.Ser8Asn) rs746783950 0.00010
NM_007347.5(AP4E1):c.1429+11T>C rs116904472 0.00010
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=) rs137967792 0.00009
NM_001278116.2(L1CAM):c.1547-14C>T rs145192924 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_001278116.2(L1CAM):c.3735G>A (p.Gly1245=) rs200206375 0.00009
NM_002156.5(HSPD1):c.384C>T (p.Phe128=) rs762474761 0.00009
NM_004984.4(KIF5A):c.2023+14A>G rs750746685 0.00009
NM_006517.5(SLC16A2):c.1449C>T (p.Ala483=) rs764747903 0.00009
NM_006517.5(SLC16A2):c.1590G>A (p.Pro530=) rs150369288 0.00009
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) rs199888009 0.00008
NM_001278116.2(L1CAM):c.3542+13C>T rs782760565 0.00008
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) rs782341083 0.00008
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_001278116.2(L1CAM):c.523+13G>A rs201766114 0.00008
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=) rs373545419 0.00008
NM_004187.5(KDM5C):c.792G>T (p.Gly264=) rs782585482 0.00008
NM_004187.5(KDM5C):c.896G>A (p.Ser299Asn) rs782163332 0.00008
NM_005619.5(RTN2):c.174C>T (p.Thr58=) rs199928834 0.00008
NM_014363.6(SACS):c.10482A>G (p.Leu3494=) rs149643158 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_015346.4(ZFYVE26):c.3414G>A (p.Leu1138=) rs190942620 0.00008
NM_015346.4(ZFYVE26):c.3598C>T (p.Leu1200=) rs201731193 0.00008
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn) rs534497092 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001278116.2(L1CAM):c.1476C>T (p.Thr492=) rs150805225 0.00007
NM_001278116.2(L1CAM):c.1703+10G>C rs781848372 0.00007
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) rs201474883 0.00007
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004984.4(KIF5A):c.820-9C>A rs185306438 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_001278116.2(L1CAM):c.1703+14C>T rs201072258 0.00006
NM_001278116.2(L1CAM):c.2091C>T (p.Pro697=) rs147917724 0.00006
NM_001278116.2(L1CAM):c.2552C>T (p.Thr851Met) rs782419777 0.00006
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=) rs200799618 0.00006
NM_001278116.2(L1CAM):c.99G>C (p.Glu33Asp) rs201990980 0.00006
NM_004187.5(KDM5C):c.3439-13C>A rs45494602 0.00006
NM_004187.5(KDM5C):c.3759G>A (p.Pro1253=) rs781847165 0.00006
NM_004984.4(KIF5A):c.715-20A>G rs201888198 0.00006
NM_005619.5(RTN2):c.672G>A (p.Ser224=) rs377094463 0.00006
NM_014231.5(VAMP1):c.288+15C>T rs147665374 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_015346.4(ZFYVE26):c.1749C>T (p.Leu583=) rs754225639 0.00006
NM_001278116.2(L1CAM):c.2065G>A (p.Val689Ile) rs782746537 0.00005
NM_001278116.2(L1CAM):c.400+9C>T rs201057718 0.00005
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met) rs199796566 0.00005
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=) rs111597352 0.00005
NM_002156.5(HSPD1):c.1446T>C (p.Asn482=) rs2303884 0.00005
NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser) rs782770109 0.00005
NM_004187.5(KDM5C):c.4114A>G (p.Arg1372Gly) rs782193850 0.00005
NM_004984.4(KIF5A):c.1368G>A (p.Leu456=) rs769470445 0.00005
NM_006517.5(SLC16A2):c.525C>T (p.Thr175=) rs754816447 0.00005
NM_014363.6(SACS):c.1152T>G (p.Thr384=) rs185643322 0.00005
NM_014363.6(SACS):c.2454T>C (p.Ile818=) rs370677124 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_001012301.4(ARSI):c.921C>T (p.Ser307=) rs200155745 0.00004
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) rs139197516 0.00004
NM_001278116.2(L1CAM):c.1386C>T (p.Asp462=) rs200209432 0.00004
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=) rs782495914 0.00004
NM_001278116.2(L1CAM):c.3178G>A (p.Gly1060Arg) rs202064643 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_001278116.2(L1CAM):c.3542+14G>A rs782488294 0.00004
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) rs200809259 0.00004
NM_004187.5(KDM5C):c.2462A>T (p.Glu821Val) rs377327486 0.00004
NM_004187.5(KDM5C):c.3405G>A (p.Leu1135=) rs781859397 0.00004
NM_004984.4(KIF5A):c.1281G>A (p.Gln427=) rs771610789 0.00004
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met) rs201039304 0.00004
NM_006517.5(SLC16A2):c.262A>G (p.Thr88Ala) rs751226641 0.00004
NM_006517.5(SLC16A2):c.676C>T (p.Arg226Cys) rs201194222 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr) rs761189797 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11576G>A (p.Arg3859His) rs149427669 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr) rs761791412 0.00004
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro) rs770677319 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg) rs761960824 0.00004
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.8450C>T (p.Thr2817Met) rs371652968 0.00004
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr) rs551062468 0.00004
NM_020435.4(GJC2):c.285G>A (p.Leu95=) rs148764840 0.00004
NM_001128126.3(AP4S1):c.124C>A (p.Arg42=) rs387906970 0.00003
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=) rs182851917 0.00003
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile) rs200006286 0.00003
NM_001278116.2(L1CAM):c.1673G>A (p.Arg558Gln) rs782557004 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001278116.2(L1CAM):c.2715C>T (p.Pro905=) rs782031914 0.00003
NM_004187.5(KDM5C):c.1169G>A (p.Arg390Gln) rs1556849128 0.00003
NM_004187.5(KDM5C):c.2816C>G (p.Ala939Gly) rs782293638 0.00003
NM_004187.5(KDM5C):c.3324C>T (p.Ala1108=) rs782721047 0.00003
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=) rs45442400 0.00003
NM_004187.5(KDM5C):c.652C>T (p.Pro218Ser) rs782076366 0.00003
NM_006517.5(SLC16A2):c.1223G>A (p.Arg408Gln) rs770854933 0.00003
NM_006517.5(SLC16A2):c.1470G>A (p.Gly490=) rs777634255 0.00003
NM_014363.6(SACS):c.345+14C>T rs538944334 0.00003
NM_014363.6(SACS):c.7431G>C (p.Lys2477Asn) rs745795861 0.00003
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His) rs201339450 0.00003
NM_015346.4(ZFYVE26):c.7041C>T (p.Cys2347=) rs370837940 0.00003
NM_024306.5(FA2H):c.905C>T (p.Ala302Val) rs202048141 0.00003
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1269G>A (p.Gln423=) rs41311706 0.00002
NM_001278116.2(L1CAM):c.1379+12G>A rs376186883 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1379+8T>C rs782035694 0.00002
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys) rs202175564 0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) rs201372074 0.00002
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys) rs200688598 0.00002
NM_001278116.2(L1CAM):c.198-9C>T rs782753470 0.00002
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys) rs1172761444 0.00002
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001278116.2(L1CAM):c.3322+19G>A rs375076231 0.00002
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) rs782420127 0.00002
NM_001278116.2(L1CAM):c.3549C>T (p.Asn1183=) rs200916591 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001278116.2(L1CAM):c.92T>C (p.Val31Ala) rs782476478 0.00002
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) rs782423426 0.00002
NM_004187.5(KDM5C):c.2406T>C (p.Arg802=) rs1407114028 0.00002
NM_004187.5(KDM5C):c.2538A>G (p.Leu846=) rs782193686 0.00002
NM_004984.4(KIF5A):c.2217G>C (p.Gln739His) rs755813386 0.00002
NM_004984.4(KIF5A):c.2993-12T>C rs542701424 0.00002
NM_005619.5(RTN2):c.1104C>T (p.Leu368=) rs200948085 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_015346.4(ZFYVE26):c.2427C>T (p.Gly809=) rs144063215 0.00002
NM_024306.5(FA2H):c.771C>T (p.His257=) rs371293493 0.00002
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu) rs782568205 0.00001
NM_001278116.2(L1CAM):c.2412C>T (p.Ile804=) rs201540601 0.00001
NM_001278116.2(L1CAM):c.2500C>T (p.Arg834Trp) rs782716607 0.00001
NM_001278116.2(L1CAM):c.2536C>T (p.Arg846Cys) rs1373663966 0.00001
NM_001278116.2(L1CAM):c.266C>T (p.Ser89Leu) rs782178366 0.00001
NM_001278116.2(L1CAM):c.2763C>T (p.Pro921=) rs781813303 0.00001
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=) rs149420127 0.00001
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991 0.00001
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys) rs782180684 0.00001
NM_001278116.2(L1CAM):c.3322+12G>A rs202237037 0.00001
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=) rs199910719 0.00001
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875 0.00001
NM_001278116.2(L1CAM):c.3489T>C (p.Ser1163=) rs782791362 0.00001
NM_001278116.2(L1CAM):c.3690T>C (p.Ser1230=) rs200610909 0.00001
NM_001278116.2(L1CAM):c.570C>T (p.Asn190=) rs202098484 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.695-10C>T rs782231167 0.00001
NM_001278116.2(L1CAM):c.774G>C (p.Gln258His) rs930427854 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001278116.2(L1CAM):c.950C>T (p.Ser317Leu) rs781935859 0.00001
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp) rs1018074229 0.00001
NM_004187.5(KDM5C):c.3439-7A>G rs782026107 0.00001
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met) rs782205045 0.00001
NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=) rs782180827 0.00001
NM_004187.5(KDM5C):c.4190C>T (p.Ala1397Val) rs782615711 0.00001
NM_005619.5(RTN2):c.389C>T (p.Ala130Val) rs745409162 0.00001
NM_006517.5(SLC16A2):c.890G>A (p.Arg297His) rs780086745 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr) rs1388546547 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys) rs778310483 0.00001
NM_014363.6(SACS):c.12835C>G (p.Leu4279Val) rs537725928 0.00001
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro) rs771914413 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser) rs142037771 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.598A>G (p.Ile200Val) rs762268076 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773 0.00001
NM_014363.6(SACS):c.8922A>G (p.Leu2974=) rs563864403 0.00001
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00001
NM_015346.4(ZFYVE26):c.1170G>A (p.Leu390=) rs532292359 0.00001
NM_015346.4(ZFYVE26):c.5970C>T (p.Phe1990=) rs779643421 0.00001
NM_001012301.4(ARSI):c.1007G>A (p.Arg336Gln)
NM_001012301.4(ARSI):c.636T>C (p.Tyr212=) rs6579784
NM_001128126.3(AP4S1):c.306+4182dup rs766477779
NM_001278116.2(L1CAM):c.1020G>A (p.Gln340=)
NM_001278116.2(L1CAM):c.1052G>A (p.Arg351His)
NM_001278116.2(L1CAM):c.1083A>T (p.Gln361His)
NM_001278116.2(L1CAM):c.108C>T (p.Val36=)
NM_001278116.2(L1CAM):c.1092C>T (p.Val364=)
NM_001278116.2(L1CAM):c.1157G>A (p.Arg386His)
NM_001278116.2(L1CAM):c.1230C>T (p.His410=)
NM_001278116.2(L1CAM):c.1248T>C (p.Asn416=)
NM_001278116.2(L1CAM):c.1260C>T (p.Tyr420=)
NM_001278116.2(L1CAM):c.1297A>C (p.Asn433His)
NM_001278116.2(L1CAM):c.1305G>A (p.Thr435=)
NM_001278116.2(L1CAM):c.131G>A (p.Arg44His)
NM_001278116.2(L1CAM):c.1323C>A (p.Gly441=)
NM_001278116.2(L1CAM):c.1341G>A (p.Leu447=)
NM_001278116.2(L1CAM):c.1345A>G (p.Lys449Glu)
NM_001278116.2(L1CAM):c.1380-12T>C
NM_001278116.2(L1CAM):c.1380-17C>T
NM_001278116.2(L1CAM):c.1387G>C (p.Glu463Gln)
NM_001278116.2(L1CAM):c.139G>T (p.Val47Phe)
NM_001278116.2(L1CAM):c.1465G>A (p.Ala489Thr)
NM_001278116.2(L1CAM):c.1467C>A (p.Ala489=)
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=)
NM_001278116.2(L1CAM):c.1480C>T (p.Arg494Cys)
NM_001278116.2(L1CAM):c.1546+11C>T
NM_001278116.2(L1CAM):c.1574G>A (p.Arg525His)
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
NM_001278116.2(L1CAM):c.1628T>C (p.Phe543Ser)
NM_001278116.2(L1CAM):c.1669G>A (p.Gly557Ser)
NM_001278116.2(L1CAM):c.1678C>A (p.Leu560Ile)
NM_001278116.2(L1CAM):c.1692G>A (p.Gly564=)
NM_001278116.2(L1CAM):c.1704-18_1704-15del rs782806330
NM_001278116.2(L1CAM):c.1704-20C>T
NM_001278116.2(L1CAM):c.1707C>T (p.Tyr569=)
NM_001278116.2(L1CAM):c.1721G>A (p.Gly574Glu)
NM_001278116.2(L1CAM):c.1724G>A (p.Arg575His)
NM_001278116.2(L1CAM):c.1752C>T (p.Ser584=)
NM_001278116.2(L1CAM):c.1773C>T (p.Cys591=)
NM_001278116.2(L1CAM):c.1785C>T (p.Thr595=)
NM_001278116.2(L1CAM):c.1796T>C (p.Val599Ala)
NM_001278116.2(L1CAM):c.1829-20C>T
NM_001278116.2(L1CAM):c.1849C>T (p.Arg617Trp)
NM_001278116.2(L1CAM):c.1857G>A (p.Val619=)
NM_001278116.2(L1CAM):c.1893G>T (p.Val631=)
NM_001278116.2(L1CAM):c.1896C>T (p.Arg632=)
NM_001278116.2(L1CAM):c.1897G>A (p.Val633Met)
NM_001278116.2(L1CAM):c.1901C>T (p.Ser634Phe)
NM_001278116.2(L1CAM):c.1925A>G (p.Asn642Ser)
NM_001278116.2(L1CAM):c.1929C>A (p.Ala643=)
NM_001278116.2(L1CAM):c.1940-17G>A
NM_001278116.2(L1CAM):c.1979A>C (p.Glu660Ala)
NM_001278116.2(L1CAM):c.2037G>C (p.Leu679=)
NM_001278116.2(L1CAM):c.2040G>A (p.Ser680=)
NM_001278116.2(L1CAM):c.2107G>T (p.Val703Phe)
NM_001278116.2(L1CAM):c.2109C>T (p.Val703=)
NM_001278116.2(L1CAM):c.2123T>A (p.Val708Asp)
NM_001278116.2(L1CAM):c.2138-14A>G
NM_001278116.2(L1CAM):c.2202G>A (p.Thr734=)
NM_001278116.2(L1CAM):c.2215C>T (p.Arg739Trp)
NM_001278116.2(L1CAM):c.2250C>T (p.Tyr750=)
NM_001278116.2(L1CAM):c.2317C>T (p.Leu773=)
NM_001278116.2(L1CAM):c.2334G>A (p.Thr778=)
NM_001278116.2(L1CAM):c.2343C>T (p.Phe781=)
NM_001278116.2(L1CAM):c.2344G>A (p.Val782Met)
NM_001278116.2(L1CAM):c.2459G>A (p.Gly820Asp) rs2148494420
NM_001278116.2(L1CAM):c.2505G>A (p.Pro835=)
NM_001278116.2(L1CAM):c.2538C>T (p.Arg846=)
NM_001278116.2(L1CAM):c.2548-11C>T
NM_001278116.2(L1CAM):c.2553G>A (p.Thr851=) rs373921972
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
NM_001278116.2(L1CAM):c.2622C>T (p.Pro874=)
NM_001278116.2(L1CAM):c.2656C>T (p.Arg886Trp)
NM_001278116.2(L1CAM):c.2709G>A (p.Ser903=)
NM_001278116.2(L1CAM):c.2716G>A (p.Ala906Thr)
NM_001278116.2(L1CAM):c.2745G>A (p.Glu915=)
NM_001278116.2(L1CAM):c.2781G>A (p.Glu927=)
NM_001278116.2(L1CAM):c.2810G>A (p.Arg937His)
NM_001278116.2(L1CAM):c.2838C>T (p.Gly946=)
NM_001278116.2(L1CAM):c.2873-17C>T
NM_001278116.2(L1CAM):c.2876A>G (p.Asp959Gly)
NM_001278116.2(L1CAM):c.2919C>T (p.Pro973=)
NM_001278116.2(L1CAM):c.2929A>G (p.Thr977Ala)
NM_001278116.2(L1CAM):c.293C>T (p.Thr98Met)
NM_001278116.2(L1CAM):c.2968C>T (p.Arg990Cys)
NM_001278116.2(L1CAM):c.2997G>A (p.Glu999=)
NM_001278116.2(L1CAM):c.3046+12G>A
NM_001278116.2(L1CAM):c.3047-7C>A
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3166+18C>A
NM_001278116.2(L1CAM):c.3258C>T (p.Tyr1086=)
NM_001278116.2(L1CAM):c.3281G>C (p.Arg1094Thr)
NM_001278116.2(L1CAM):c.3302C>T (p.Ala1101Val)
NM_001278116.2(L1CAM):c.3322+10C>T
NM_001278116.2(L1CAM):c.3322+18C>T
NM_001278116.2(L1CAM):c.3322+8G>A
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.3352G>A (p.Ala1118Thr)
NM_001278116.2(L1CAM):c.3372C>T (p.Ile1124=)
NM_001278116.2(L1CAM):c.3388A>G (p.Ile1130Val)
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
NM_001278116.2(L1CAM):c.3429C>A (p.Ile1143=)
NM_001278116.2(L1CAM):c.3433C>T (p.Arg1145Cys)
NM_001278116.2(L1CAM):c.3444C>T (p.Gly1148=)
NM_001278116.2(L1CAM):c.3457+18C>G
NM_001278116.2(L1CAM):c.3457+18C>T rs76726076
NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)
NM_001278116.2(L1CAM):c.3530+15G>A
NM_001278116.2(L1CAM):c.3530+15G>C
NM_001278116.2(L1CAM):c.3530+5G>A
NM_001278116.2(L1CAM):c.3531-14C>T
NM_001278116.2(L1CAM):c.3543-15C>T
NM_001278116.2(L1CAM):c.3588C>T (p.Asn1196=)
NM_001278116.2(L1CAM):c.3609C>T (p.Gly1203=)
NM_001278116.2(L1CAM):c.3615C>T (p.Asp1205=)
NM_001278116.2(L1CAM):c.3628G>A (p.Asp1210Asn) rs781964622
NM_001278116.2(L1CAM):c.3660C>T (p.Asn1220=)
NM_001278116.2(L1CAM):c.366C>T (p.Thr122=)
NM_001278116.2(L1CAM):c.3705G>A (p.Lys1235=)
NM_001278116.2(L1CAM):c.3739A>G (p.Thr1247Ala)
NM_001278116.2(L1CAM):c.3747C>A (p.Pro1249=)
NM_001278116.2(L1CAM):c.3760G>A (p.Val1254Met)
NM_001278116.2(L1CAM):c.3763G>A (p.Ala1255Thr)
NM_001278116.2(L1CAM):c.3764C>T (p.Ala1255Val)
NM_001278116.2(L1CAM):c.3768A>G (p.Leu1256=)
NM_001278116.2(L1CAM):c.523+10G>A
NM_001278116.2(L1CAM):c.523+11G>A
NM_001278116.2(L1CAM):c.523+17G>A
NM_001278116.2(L1CAM):c.523+9C>T
NM_001278116.2(L1CAM):c.524-15C>G
NM_001278116.2(L1CAM):c.546C>T (p.Asp182=)
NM_001278116.2(L1CAM):c.547G>A (p.Glu183Lys)
NM_001278116.2(L1CAM):c.557C>T (p.Thr186Met)
NM_001278116.2(L1CAM):c.703A>G (p.Met235Val)
NM_001278116.2(L1CAM):c.722G>A (p.Arg241His)
NM_001278116.2(L1CAM):c.729C>T (p.Leu243=)
NM_001278116.2(L1CAM):c.756G>C (p.Leu252=)
NM_001278116.2(L1CAM):c.771G>T (p.Gly257=)
NM_001278116.2(L1CAM):c.795C>T (p.Ile265=)
NM_001278116.2(L1CAM):c.806+14C>T
NM_001278116.2(L1CAM):c.813G>A (p.Thr271=)
NM_001278116.2(L1CAM):c.833G>A (p.Arg278His)
NM_001278116.2(L1CAM):c.835C>G (p.Pro279Ala)
NM_001278116.2(L1CAM):c.839G>C (p.Ser280Thr)
NM_001278116.2(L1CAM):c.845C>A (p.Pro282His)
NM_001278116.2(L1CAM):c.856G>A (p.Asp286Asn)
NM_001278116.2(L1CAM):c.858C>T (p.Asp286=)
NM_001278116.2(L1CAM):c.861T>C (p.Arg287=)
NM_001278116.2(L1CAM):c.962C>T (p.Ala321Val)
NM_001278116.2(L1CAM):c.971C>T (p.Ala324Val)
NM_001278116.2(L1CAM):c.972G>A (p.Ala324=)
NM_001278116.2(L1CAM):c.981C>T (p.Val327=)
NM_001278116.2(L1CAM):c.992-5C>T
NM_001385875.1(ZFYVE27):c.1089+3G>A rs556454107
NM_001385875.1(ZFYVE27):c.897+19G>A
NM_001478.5(B4GALNT1):c.1002+13_1002+15del rs536365578
NM_001478.5(B4GALNT1):c.1272C>T (p.Val424=) rs143066025
NM_001478.5(B4GALNT1):c.219-7C>T rs138590413
NM_001478.5(B4GALNT1):c.491-16dup
NM_001478.5(B4GALNT1):c.514G>C (p.Gly172Arg) rs810205
NM_002156.5(HSPD1):c.1434C>G (p.Thr478=) rs199527127
NM_002156.5(HSPD1):c.1570-16_1570-13del rs762688563
NM_004187.5(KDM5C):c.1401+5G>A
NM_004187.5(KDM5C):c.151-12C>G
NM_004187.5(KDM5C):c.1794C>G (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2041C>A (p.Arg681=)
NM_004187.5(KDM5C):c.2166C>T (p.Tyr722=)
NM_004187.5(KDM5C):c.2244-14C>A
NM_004187.5(KDM5C):c.2374G>C (p.Glu792Gln)
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.261C>T (p.Asp87=)
NM_004187.5(KDM5C):c.2687C>G (p.Ser896Cys)
NM_004187.5(KDM5C):c.2739G>A (p.Val913=)
NM_004187.5(KDM5C):c.2913C>T (p.Ala971=)
NM_004187.5(KDM5C):c.2982-13del
NM_004187.5(KDM5C):c.3051C>G (p.Pro1017=)
NM_004187.5(KDM5C):c.3987A>G (p.Ala1329=)
NM_004187.5(KDM5C):c.4094C>T (p.Pro1365Leu)
NM_004187.5(KDM5C):c.4137G>A (p.Ser1379=)
NM_004187.5(KDM5C):c.4186C>A (p.Arg1396=)
NM_004187.5(KDM5C):c.4227C>T (p.Leu1409=)
NM_004187.5(KDM5C):c.4317+16A>G
NM_004187.5(KDM5C):c.4421G>A (p.Arg1474Gln)
NM_004187.5(KDM5C):c.45G>A (p.Pro15=)
NM_004187.5(KDM5C):c.579C>T (p.His193=)
NM_004187.5(KDM5C):c.782-10T>C
NM_004187.5(KDM5C):c.786G>A (p.Lys262=)
NM_004187.5(KDM5C):c.856A>G (p.Thr286Ala)
NM_004187.5(KDM5C):c.888G>T (p.Glu296Asp)
NM_004733.4(SLC33A1):c.1569T>C (p.Gly523=) rs150442784
NM_004733.4(SLC33A1):c.776-14del
NM_004820.5(CYP7B1):c.123-10_123-9del rs8192895
NM_004820.5(CYP7B1):c.123-10_123-9dup
NM_004820.5(CYP7B1):c.123-19dup rs8192895
NM_004820.5(CYP7B1):c.123-9del rs8192895
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004820.5(CYP7B1):c.260-5del rs8192896
NM_004820.5(CYP7B1):c.260-6T>C
NM_004820.5(CYP7B1):c.75C>A (p.Ala25=) rs536629832
NM_004820.5(CYP7B1):c.971G>C (p.Arg324Pro)
NM_004984.4(KIF5A):c.1058C>G (p.Thr353Arg)
NM_004984.4(KIF5A):c.1087C>T (p.Leu363=)
NM_004984.4(KIF5A):c.1118-8del
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.4(KIF5A):c.1548G>A (p.Val516=)
NM_004984.4(KIF5A):c.2089-11del
NM_004984.4(KIF5A):c.2992+12dup rs576635518
NM_004984.4(KIF5A):c.3020+22del rs751099911
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004984.4(KIF5A):c.589+20del rs2140161312
NM_004984.4(KIF5A):c.820-3del rs1349311406
NM_004984.4(KIF5A):c.968+8G>T
NM_005619.5(RTN2):c.1135G>A (p.Val379Met)
NM_005619.5(RTN2):c.1381-12del rs537146226
NM_005619.5(RTN2):c.1381-19C>A
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.1222C>T (p.Arg408Trp)
NM_006517.5(SLC16A2):c.1243G>A (p.Val415Ile)
NM_006517.5(SLC16A2):c.129C>G (p.Pro43=)
NM_006517.5(SLC16A2):c.1589C>T (p.Pro530Leu)
NM_006517.5(SLC16A2):c.235C>A (p.Pro79Thr) rs1006597718
NM_006517.5(SLC16A2):c.265G>A (p.Ala89Thr) rs201661705
NM_006517.5(SLC16A2):c.537C>T (p.Ala179=)
NM_006517.5(SLC16A2):c.875G>A (p.Ser292Asn)
NM_006517.5(SLC16A2):c.888C>T (p.Val296=)
NM_006517.5(SLC16A2):c.893C>T (p.Thr298Ile)
NM_006517.5(SLC16A2):c.92C>T (p.Pro31Leu)
NM_006517.5(SLC16A2):c.940C>A (p.Arg314=)
NM_007175.8(ERLIN2):c.557+15C>T
NM_007175.8(ERLIN2):c.740-5C>G rs191003311
NM_007175.8(ERLIN2):c.820-6del
NM_007175.8(ERLIN2):c.820-6dup
NM_007347.5(AP4E1):c.1966+3_1966+6dup rs760221045
NM_007347.5(AP4E1):c.3253+19del
NM_007347.5(AP4E1):c.703-7dup
NM_007347.5(AP4E1):c.870-15del
NM_014363.6(SACS):c.10101T>C (p.Tyr3367=)
NM_014363.6(SACS):c.10106T>G (p.Val3369Gly)
NM_014363.6(SACS):c.10110A>G (p.Gln3370=)
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10394T>G (p.Val3465Gly)
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr)
NM_014363.6(SACS):c.1079G>A (p.Cys360Tyr)
NM_014363.6(SACS):c.10901A>T (p.Gln3634Leu)
NM_014363.6(SACS):c.11177C>A (p.Pro3726Gln)
NM_014363.6(SACS):c.11194C>G (p.Gln3732Glu)
NM_014363.6(SACS):c.1123G>A (p.Val375Ile)
NM_014363.6(SACS):c.11375G>A (p.Arg3792Gln)
NM_014363.6(SACS):c.11578A>G (p.Ile3860Val)
NM_014363.6(SACS):c.12172A>G (p.Arg4058Gly)
NM_014363.6(SACS):c.12328A>G (p.Thr4110Ala)
NM_014363.6(SACS):c.12361A>C (p.Ile4121Leu)
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val)
NM_014363.6(SACS):c.12650A>G (p.Asn4217Ser)
NM_014363.6(SACS):c.12677A>T (p.Gln4226Leu)
NM_014363.6(SACS):c.12778T>C (p.Ser4260Pro)
NM_014363.6(SACS):c.12787A>G (p.Thr4263Ala)
NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser)
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.13133G>A (p.Arg4378Gln)
NM_014363.6(SACS):c.13259G>T (p.Cys4420Phe)
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
NM_014363.6(SACS):c.13397A>G (p.His4466Arg)
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp)
NM_014363.6(SACS):c.1537A>G (p.Ile513Val)
NM_014363.6(SACS):c.1544G>A (p.Arg515His)
NM_014363.6(SACS):c.1546C>G (p.Leu516Val)
NM_014363.6(SACS):c.1672C>G (p.Gln558Glu)
NM_014363.6(SACS):c.172-4del rs922771267
NM_014363.6(SACS):c.172-4dup
NM_014363.6(SACS):c.1775A>G (p.Asn592Ser)
NM_014363.6(SACS):c.1829C>T (p.Ala610Val)
NM_014363.6(SACS):c.1880C>T (p.Thr627Met)
NM_014363.6(SACS):c.20+19dup
NM_014363.6(SACS):c.2016A>G (p.Gln672=)
NM_014363.6(SACS):c.2176C>A (p.Gln726Lys)
NM_014363.6(SACS):c.2186-15G>A
NM_014363.6(SACS):c.2344G>T (p.Val782Phe)
NM_014363.6(SACS):c.2458C>T (p.Leu820Phe)
NM_014363.6(SACS):c.2826A>C (p.Thr942=)
NM_014363.6(SACS):c.2851C>T (p.His951Tyr)
NM_014363.6(SACS):c.28C>T (p.Pro10Ser)
NM_014363.6(SACS):c.2912A>G (p.Asp971Gly)
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys) rs139993038
NM_014363.6(SACS):c.2936A>G (p.Asn979Ser)
NM_014363.6(SACS):c.3082C>G (p.Pro1028Ala)
NM_014363.6(SACS):c.3142G>A (p.Val1048Ile)
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
NM_014363.6(SACS):c.345+6dup
NM_014363.6(SACS):c.346-19del rs200011804
NM_014363.6(SACS):c.346-19dup
NM_014363.6(SACS):c.3548C>T (p.Pro1183Leu)
NM_014363.6(SACS):c.3617A>G (p.His1206Arg)
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
NM_014363.6(SACS):c.3917A>G (p.Asn1306Ser)
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
NM_014363.6(SACS):c.4114C>A (p.Pro1372Thr)
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4276A>G (p.Ile1426Val)
NM_014363.6(SACS):c.4519G>C (p.Glu1507Gln)
NM_014363.6(SACS):c.4554T>C (p.His1518=)
NM_014363.6(SACS):c.4654A>C (p.Lys1552Gln)
NM_014363.6(SACS):c.484G>A (p.Ala162Thr)
NM_014363.6(SACS):c.4891T>C (p.Leu1631=)
NM_014363.6(SACS):c.5032C>T (p.Leu1678Phe)
NM_014363.6(SACS):c.5182G>A (p.Val1728Ile)
NM_014363.6(SACS):c.5576A>G (p.Gln1859Arg)
NM_014363.6(SACS):c.5607G>A (p.Glu1869=)
NM_014363.6(SACS):c.6011T>C (p.Val2004Ala)
NM_014363.6(SACS):c.6140T>C (p.Leu2047Pro)
NM_014363.6(SACS):c.6278G>A (p.Arg2093His)
NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr) rs373982540
NM_014363.6(SACS):c.6389G>C (p.Arg2130Thr)
NM_014363.6(SACS):c.6605G>A (p.Arg2202Lys)
NM_014363.6(SACS):c.6892A>C (p.Lys2298Gln)
NM_014363.6(SACS):c.7003A>G (p.Met2335Val)
NM_014363.6(SACS):c.7009A>G (p.Ile2337Val)
NM_014363.6(SACS):c.7148G>A (p.Arg2383His)
NM_014363.6(SACS):c.7223A>G (p.Asp2408Gly)
NM_014363.6(SACS):c.7325A>G (p.Glu2442Gly)
NM_014363.6(SACS):c.7725A>G (p.Ile2575Met)
NM_014363.6(SACS):c.7912T>C (p.Phe2638Leu)
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8203G>A (p.Ala2735Thr)
NM_014363.6(SACS):c.8204C>T (p.Ala2735Val)
NM_014363.6(SACS):c.8209C>T (p.Leu2737Phe)
NM_014363.6(SACS):c.8254A>G (p.Ile2752Val)
NM_014363.6(SACS):c.8417T>C (p.Met2806Thr)
NM_014363.6(SACS):c.8828T>C (p.Val2943Ala)
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.906T>G (p.Asp302Glu)
NM_014363.6(SACS):c.9164T>C (p.Val3055Ala)
NM_014363.6(SACS):c.9238T>C (p.Tyr3080His)
NM_014363.6(SACS):c.956A>T (p.Tyr319Phe)
NM_014363.6(SACS):c.9769G>T (p.Val3257Leu)
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)
NM_014363.6(SACS):c.9972A>T (p.Leu3324=) rs772412510
NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr) rs531152715
NM_015346.4(ZFYVE26):c.195-4dup
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
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.4197C>T (p.Thr1399=) rs35018134
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_015346.4(ZFYVE26):c.5790+15dup
NM_015346.4(ZFYVE26):c.7129-19_7129-17dup rs111465559
NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=) rs550301037
NM_015346.4(ZFYVE26):c.887-21del rs145323881
NM_020435.4(GJC2):c.543G>T (p.Ala181=) rs765400775
NM_020944.3(GBA2):c.1129+11del
NM_020944.3(GBA2):c.1560C>T (p.Tyr520=)
NM_020944.3(GBA2):c.2313+7GAG[5] rs200851781
NM_024306.5(FA2H):c.10G>T (p.Ala4Ser)
NM_024306.5(FA2H):c.21C>A (p.Pro7=) rs918733475
NM_024306.5(FA2H):c.786+12G>A
NM_024306.5(FA2H):c.921C>T (p.Gly307=)
NM_183075.3(CYP2U1):c.1289-3del
NM_183075.3(CYP2U1):c.737G>C (p.Ser246Thr)

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