ClinVar Miner

List of variants reported for Hereditary spastic paraplegia by Genome Diagnostics Laboratory, The Hospital for Sick Children

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ClinVar version:
Total variants: 1808
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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_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

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