ClinVar Miner

List of variants reported as uncertain significance for brain disorder by Baylor Genetics

Included ClinVar conditions (1841):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2254
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val) rs35629953 0.00409
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser) rs62620227 0.00280
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val) rs141497885 0.00258
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu) rs61740253 0.00257
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val) rs116772777 0.00227
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_001127178.3(PIGG):c.724G>A (p.Val242Met) rs144411585 0.00187
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys) rs145521296 0.00177
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_178138.6(LHX3):c.252-4G>T rs372058376 0.00165
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn) rs191511427 0.00154
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_016023.5(OTUD6B):c.-15G>A rs186307892 0.00131
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn) rs185712951 0.00122
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_016023.5(OTUD6B):c.-39A>G rs199542428 0.00119
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp) rs143832637 0.00116
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) rs150646335 0.00116
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_015378.4(VPS13D):c.1414+5G>A rs190463258 0.00110
NM_004855.5(PIGB):c.1432C>G (p.Leu478Val) rs187070265 0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr) rs147455569 0.00104
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val) rs201625904 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_000823.4(GHRHR):c.975-6C>A rs117572522 0.00088
NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu) rs141191327 0.00088
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=) rs138585463 0.00085
NM_001378778.1(MPDZ):c.93C>G (p.Asp31Glu) rs148433683 0.00085
NM_006086.4(TUBB3):c.921C>T (p.His307=) rs147283850 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu) rs146646020 0.00081
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563 0.00081
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) rs112513009 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) rs41291894 0.00076
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile) rs141670485 0.00076
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val) rs140802292 0.00075
NM_001244008.2(KIF1A):c.1208-40G>A rs375833834 0.00073
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His) rs144891748 0.00071
NM_001367561.1(DOCK7):c.2605G>A (p.Gly869Ser) rs201823761 0.00069
NM_001080414.4(CCDC88C):c.4768+6T>C rs183312399 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) rs141213887 0.00066
NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys) rs146271483 0.00064
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) rs369748157 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val) rs201343662 0.00060
NM_052988.5(CDK10):c.51T>G (p.Arg17=) rs201507040 0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile) rs35094617 0.00058
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_152722.5(HEPACAM):c.259G>A (p.Val87Ile) rs142346902 0.00050
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg) rs139919081 0.00047
NM_032737.4(LMNB2):c.265-19C>T rs199577453 0.00046
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00044
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) rs150505248 0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) rs529642370 0.00043
NM_001378457.1(DMXL2):c.7148C>G (p.Ala2383Gly) rs140233306 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile) rs146481462 0.00043
NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys) rs150289554 0.00040
NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly) rs753349424 0.00039
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_004562.3(PRKN):c.535-9T>A rs201039350 0.00038
NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg) rs140140023 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_001278512.2(AP3B2):c.1183-19T>G rs377729111 0.00036
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_001042646.3(TRAK1):c.2345C>T (p.Pro782Leu) rs112854798 0.00034
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val) rs375300224 0.00034
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) rs145503551 0.00034
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) rs199996939 0.00034
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
NM_000817.3(GAD1):c.1184+17G>A rs180969459 0.00033
NM_006059.4(LAMC3):c.4424G>A (p.Arg1475His) rs113354770 0.00033
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser) rs200770933 0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr) rs61747503 0.00031
NM_006059.4(LAMC3):c.1066C>T (p.Arg356Cys) rs138713603 0.00030
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_001378778.1(MPDZ):c.893G>C (p.Ser298Thr) rs201889514 0.00029
NM_006059.4(LAMC3):c.4415G>A (p.Arg1472Gln) rs137894550 0.00029
NM_014026.6(DCPS):c.550G>A (p.Ala184Thr) rs147353126 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_001003694.2(BRPF1):c.1382A>G (p.His461Arg) rs781638484 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_152617.4(RNF168):c.596T>C (p.Leu199Ser) rs147030576 0.00028
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) rs148453804 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00024
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys) rs112817798 0.00024
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) rs202243828 0.00023
NM_001080397.3(SLC45A1):c.1256T>A (p.Leu419Gln) rs374431547 0.00023
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly) rs187418052 0.00023
NM_020987.5(ANK3):c.8573C>T (p.Ser2858Leu) rs78194762 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_001379286.1(ZNF423):c.317C>G (p.Pro106Arg) rs113358702 0.00022
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452 0.00022
NM_001127178.3(PIGG):c.2059T>C (p.Trp687Arg) rs566226008 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) rs139040517 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) rs780969097 0.00020
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00020
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp) rs145706266 0.00020
NM_001127178.3(PIGG):c.2798C>T (p.Thr933Met) rs372561507 0.00019
NM_001163809.2(WDR81):c.487A>G (p.Ser163Gly) rs1033460417 0.00019
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001365999.1(SZT2):c.8775G>C (p.Gln2925His) rs762236975 0.00019
NM_004830.4(MED23):c.235C>T (p.Leu79Phe) rs151031376 0.00019
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786 0.00019
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp) rs140202346 0.00019
NM_018943.3(TUBA8):c.967G>A (p.Val323Met) rs151102020 0.00019
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn) rs767667188 0.00019
NM_006059.4(LAMC3):c.1185C>T (p.Cys395=) rs186634083 0.00018
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys) rs188159332 0.00017
NM_153682.3(PIGP):c.-20T>G rs112970770 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_001080397.3(SLC45A1):c.1582G>A (p.Val528Ile) rs367968730 0.00016
NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys) rs781997463 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001378778.1(MPDZ):c.3131G>A (p.Arg1044Gln) rs374370475 0.00016
NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys) rs199936012 0.00016
NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp) rs200798902 0.00016
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln) rs138288107 0.00016
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001127178.3(PIGG):c.2086G>A (p.Glu696Lys) rs142598041 0.00015
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_006059.4(LAMC3):c.4414C>T (p.Arg1472Trp) rs145848963 0.00015
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu) rs145484765 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val) rs763210104 0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) rs200963473 0.00014
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln) rs376742471 0.00014
NM_019842.4(KCNQ5):c.1575C>A (p.Ile525=) rs777386945 0.00014
NM_020987.5(ANK3):c.12596-480C>G rs201845881 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_001039591.3(USP9X):c.131C>T (p.Pro44Leu) rs149866601 0.00013
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile) rs144575104 0.00013
NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro) rs748793270 0.00013
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln) rs779009526 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys) rs138928835 0.00012
NM_001365536.1(SCN9A):c.49A>G (p.Lys17Glu) rs181981693 0.00012
NM_001378778.1(MPDZ):c.5425G>C (p.Gly1809Arg) rs374250159 0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063 0.00012
NM_015028.4(TNIK):c.2869A>G (p.Met957Val) rs200347488 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_018489.3(ASH1L):c.7763A>G (p.Tyr2588Cys) rs749649980 0.00012
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714 0.00011
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val) rs201999820 0.00011
NM_001379286.1(ZNF423):c.2984C>T (p.Thr995Met) rs143393771 0.00011
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_005918.4(MDH2):c.376G>A (p.Ala126Thr) rs371141951 0.00011
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser) rs773172347 0.00011
NM_014334.4(FRRS1L):c.740C>T (p.Pro247Leu) rs199731037 0.00011
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile) rs368089670 0.00011
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln) rs758146224 0.00011
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_020066.5(FMN2):c.2297G>A (p.Arg766His) rs554313620 0.00011
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro) rs61752559 0.00011
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) rs201005601 0.00010
NM_003977.4(AIP):c.973C>T (p.Arg325Trp) rs765927395 0.00010
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) rs146873580 0.00010
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser) rs56067702 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_023077.3(COA7):c.113A>G (p.Tyr38Cys) rs753445023 0.00010
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp) rs145978406 0.00010
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00010
NM_203446.3(SYNJ1):c.-57T>G rs921606190 0.00010
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) rs61762497 0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001080397.3(SLC45A1):c.814T>C (p.Phe272Leu) rs200094048 0.00009
NM_001080510.5(METTL23):c.250A>G (p.Ile84Val) rs527442928 0.00009
NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp) rs188892600 0.00009
NM_001378615.1(CC2D2A):c.4314+12C>T rs775304664 0.00009
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg) rs369855750 0.00009
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg) rs146589155 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_018075.5(ANO10):c.799A>G (p.Asn267Asp) rs143322256 0.00009
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) rs527612343 0.00009
NM_020987.5(ANK3):c.2467A>G (p.Met823Val) rs180821737 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile) rs201662175 0.00009
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser) rs372337877 0.00009
NM_032531.4(KIRREL3):c.742C>T (p.His248Tyr) rs199541555 0.00009
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=) rs138687424 0.00008
NM_001365536.1(SCN9A):c.1744G>A (p.Glu582Lys) rs201391809 0.00008
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763 0.00008
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) rs141223463 0.00008
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser) rs570483616 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) rs747028553 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val) rs778299381 0.00008
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu) rs772748227 0.00008
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln) rs371360176 0.00008
NM_152743.4(BRAT1):c.1340C>T (p.Thr447Met) rs368808380 0.00008
NM_153747.2(PIGC):c.812G>A (p.Arg271His) rs370905635 0.00008
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_001042646.3(TRAK1):c.212A>G (p.His71Arg) rs201136046 0.00007
NM_001278064.2(GRM1):c.1165A>C (p.Asn389His) rs769064791 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) rs200546493 0.00007
NM_003805.5(CRADD):c.497G>A (p.Arg166His) rs746685035 0.00007
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00007
NM_018943.3(TUBA8):c.5G>A (p.Arg2Gln) rs761087286 0.00007
NM_019023.5(PRMT7):c.499G>A (p.Val167Met) rs138763605 0.00007
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00007
NM_020987.5(ANK3):c.9965C>T (p.Ser3322Phe) rs181680457 0.00007
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) rs199596170 0.00007
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) rs757581951 0.00007
NM_138501.6(TECR):c.262G>T (p.Val88Leu) rs753690636 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser) rs375048004 0.00006
NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr) rs772460402 0.00006
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) rs548699524 0.00006
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln) rs983217484 0.00006
NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly) rs151220901 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803 0.00006
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412 0.00006
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys) rs200956485 0.00006
NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln) rs201741634 0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr) rs147201727 0.00006
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377 0.00006
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) rs374765060 0.00006
NM_003977.4(AIP):c.403C>T (p.His135Tyr) rs150487522 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala) rs142373936 0.00006
NM_006059.4(LAMC3):c.1611G>C (p.Glu537Asp) rs772723882 0.00006
NM_006059.4(LAMC3):c.4523C>T (p.Thr1508Ile) rs1186517778 0.00006
NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp) rs140655170 0.00006
NM_006734.4(HIVEP2):c.4465C>G (p.Arg1489Gly) rs768721723 0.00006
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly) rs755808199 0.00006
NM_015160.3(PMPCA):c.258G>C (p.Gln86His) rs141305380 0.00006
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr) rs148356821 0.00006
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) rs765855460 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_019023.5(PRMT7):c.1726G>A (p.Glu576Lys) rs377019678 0.00006
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val) rs141687205 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033453.4(ITPA):c.416G>A (p.Arg139Gln) rs771525761 0.00006
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser) rs750010888 0.00006
NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His) rs550525876 0.00006
NM_000051.4(ATM):c.716T>C (p.Phe239Ser) rs143198946 0.00005
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) rs200284291 0.00005
NM_001371928.1(AHDC1):c.787G>A (p.Ala263Thr) rs140199241 0.00005
NM_001378778.1(MPDZ):c.2264A>G (p.Asn755Ser) rs761039217 0.00005
NM_001378778.1(MPDZ):c.3055G>A (p.Gly1019Arg) rs773285609 0.00005
NM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln) rs746316980 0.00005
NM_001543.5(NDST1):c.389G>A (p.Arg130His) rs148227466 0.00005
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln) rs368332006 0.00005
NM_004933.3(CDH15):c.1376-17G>A rs1330797153 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser) rs375546787 0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716 0.00005
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln) rs746338510 0.00005
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met) rs755920468 0.00005
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser) rs776251343 0.00005
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr) rs146889077 0.00005
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val) rs768693892 0.00005
NM_020821.3(VPS13C):c.1409G>A (p.Arg470His) rs142155201 0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr) rs556354713 0.00005
NM_033064.5(ATCAY):c.370G>A (p.Val124Met) rs147684273 0.00005
NM_152743.4(BRAT1):c.59G>A (p.Arg20Lys) rs143390199 0.00005
NM_153816.6(SNX14):c.140+9G>A rs751616334 0.00005
NM_000144.5(FXN):c.146C>A (p.Thr49Asn) rs995690945 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg) rs1229429201 0.00004
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu) rs201065535 0.00004
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp) rs782792216 0.00004
NM_001042646.3(TRAK1):c.568G>A (p.Val190Ile) rs552538335 0.00004
NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser) rs368545314 0.00004
NM_001127178.3(PIGG):c.23T>C (p.Phe8Ser) rs182168436 0.00004
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=) rs778368877 0.00004
NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser) rs775905402 0.00004
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) rs762765901 0.00004
NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys) rs764970503 0.00004
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr) rs756136593 0.00004
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920 0.00004
NM_001365999.1(SZT2):c.3916C>T (p.Arg1306Cys) rs760099699 0.00004
NM_001365999.1(SZT2):c.5668C>T (p.Pro1890Ser) rs772875195 0.00004
NM_001365999.1(SZT2):c.8315C>T (p.Thr2772Met) rs1174812322 0.00004
NM_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met) rs781278954 0.00004
NM_001371928.1(AHDC1):c.85C>A (p.Pro29Thr) rs947884627 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378778.1(MPDZ):c.2606A>G (p.Asp869Gly) rs765068620 0.00004
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) rs768603321 0.00004
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) rs375092472 0.00004
NM_003977.4(AIP):c.226A>G (p.Ile76Val) rs372657895 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_006245.4(PPP2R5D):c.160T>C (p.Ser54Pro) rs1226113951 0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 0.00004
NM_006586.5(CNPY3):c.637G>A (p.Gly213Ser) rs375246952 0.00004
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) rs758932190 0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396 0.00004
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser) rs772106134 0.00004
NM_013275.6(ANKRD11):c.7103G>A (p.Arg2368Lys) rs1018954790 0.00004
NM_014026.6(DCPS):c.329A>G (p.Asn110Ser) rs375853628 0.00004
NM_014026.6(DCPS):c.386C>T (p.Thr129Met) rs201550193 0.00004
NM_014026.6(DCPS):c.541G>A (p.Asp181Asn) rs772776014 0.00004
NM_014334.4(FRRS1L):c.190G>C (p.Gly64Arg) rs936685159 0.00004
NM_014363.6(SACS):c.11576G>A (p.Arg3859His) rs149427669 0.00004
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg) rs761960824 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln) rs200756109 0.00004
NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg) rs761728678 0.00004
NM_015100.4(POGZ):c.3334A>G (p.Ile1112Val) rs1191231647 0.00004
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser) rs373331254 0.00004
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val) rs966474941 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val) rs201665162 0.00004
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His) rs760191095 0.00004
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln) rs145422777 0.00004
NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys) rs373402338 0.00004
NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met) rs547200034 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser) rs555425016 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu) rs774928119 0.00004
NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg) rs778564417 0.00004
NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser) rs767535015 0.00004
NM_052988.5(CDK10):c.661G>A (p.Asp221Asn) rs145469184 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152743.4(BRAT1):c.1378C>T (p.Pro460Ser) rs373935601 0.00004
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly) rs751068367 0.00004
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00003
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) rs374591570 0.00003
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe) rs755799702 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser) rs771451811 0.00003
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061 0.00003
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr) rs1328657534 0.00003
NM_001080397.3(SLC45A1):c.935C>T (p.Pro312Leu) rs781435537 0.00003
NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys) rs778423082 0.00003
NM_001127178.3(PIGG):c.2536C>T (p.His846Tyr) rs368126393 0.00003
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu) rs143323381 0.00003
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln) rs545480303 0.00003
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) rs1247949520 0.00003
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser) rs774766308 0.00003
NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro) rs775126490 0.00003
NM_001289.6(CLIC2):c.103C>T (p.Arg35Cys) rs1446453794 0.00003
NM_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser) rs760346140 0.00003
NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val) rs780999801 0.00003
NM_001386298.1(CIC):c.6190G>A (p.Ala2064Thr) rs148703020 0.00003
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 0.00003
NM_002074.5(GNB1):c.520G>A (p.Gly174Ser) rs779612138 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003977.4(AIP):c.161G>A (p.Arg54Gln) rs762938281 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_003977.4(AIP):c.935G>A (p.Arg312Gln) rs775563618 0.00003
NM_003977.4(AIP):c.941G>A (p.Arg314Gln) rs540000299 0.00003
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_004958.4(MTOR):c.841-6A>G rs539605016 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val) rs769710212 0.00003
NM_007118.4(TRIO):c.6083+4C>T rs201990726 0.00003
NM_007118.4(TRIO):c.8084C>T (p.Thr2695Met) rs1032913640 0.00003
NM_013275.6(ANKRD11):c.6361G>A (p.Ala2121Thr) rs769555121 0.00003
NM_014026.6(DCPS):c.704C>T (p.Pro235Leu) rs151074136 0.00003
NM_014334.4(FRRS1L):c.604G>A (p.Val202Ile) rs753224453 0.00003
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672 0.00003
NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn) rs888864913 0.00003
NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp) rs145964068 0.00003
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln) rs769010867 0.00003
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln) rs368503703 0.00003
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys) rs748988185 0.00003
NM_018489.3(ASH1L):c.4601A>G (p.His1534Arg) rs776962103 0.00003
NM_018943.3(TUBA8):c.727C>T (p.Arg243Cys) rs762265885 0.00003
NM_019023.5(PRMT7):c.1078C>T (p.Arg360Cys) rs775110866 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
NM_020822.3(KCNT1):c.880C>T (p.Arg294Trp) rs369101729 0.00003
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met) rs574809183 0.00003
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_024735.5(FBXO31):c.996+4A>G rs765703905 0.00003
NM_024824.5(ZC3H14):c.1280-1856A>G rs538186371 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_052988.5(CDK10):c.169C>T (p.Arg57Trp) rs141061239 0.00003
NM_130797.4(DPP6):c.88G>A (p.Gly30Ser) rs1217247861 0.00003
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val) rs1055918734 0.00003
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His) rs748256440 0.00003
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala) rs544123518 0.00002
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys) rs766928717 0.00002
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) rs878853959 0.00002
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582 0.00002
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly) rs764608837 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576 0.00002
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser) rs900615101 0.00002
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) rs370164571 0.00002
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln) rs201870833 0.00002
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) rs1249414837 0.00002
NM_001080414.4(CCDC88C):c.3358-5G>A rs762398207 0.00002
NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro) rs1256411821 0.00002
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe) rs758632567 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met) rs780098532 0.00002
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990 0.00002
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg) rs1192775388 0.00002
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) rs746252411 0.00002
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) rs886540540 0.00002
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro) rs774477005 0.00002
NM_001242896.3(DEPDC5):c.3002G>A (p.Arg1001His) rs1473617562 0.00002
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg) rs879253904 0.00002
NM_001244008.2(KIF1A):c.482A>T (p.Lys161Met) rs1011045689 0.00002
NM_001257180.2(SLC20A2):c.56T>C (p.Ile19Thr) rs1034887212 0.00002
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys) rs772577036 0.00002
NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu) rs757342482 0.00002
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met) rs759524625 0.00002
NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu) rs779389307 0.00002
NM_001365999.1(SZT2):c.1994G>A (p.Arg665His) rs754481570 0.00002
NM_001365999.1(SZT2):c.6500G>A (p.Gly2167Glu) rs146540759 0.00002
NM_001365999.1(SZT2):c.9185A>G (p.His3062Arg) rs745917157 0.00002
NM_001367561.1(DOCK7):c.4490C>T (p.Thr1497Met) rs200226943 0.00002
NM_001371928.1(AHDC1):c.218G>A (p.Arg73His) rs745907116 0.00002
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) rs767317924 0.00002
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) rs759630451 0.00002
NM_001386298.1(CIC):c.5302A>G (p.Thr1768Ala) rs779776509 0.00002
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr) rs778029251 0.00002
NM_003619.4(PRSS12):c.910G>A (p.Val304Ile) rs781361976 0.00002
NM_003620.4(PPM1D):c.356A>G (p.His119Arg) rs1402052236 0.00002
NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile) rs772380740 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_004341.5(CAD):c.5488A>G (p.Met1830Val) rs747817554 0.00002
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly) rs751460863 0.00002
NM_004606.5(TAF1):c.4821+3A>G rs760062431 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245 0.00002
NM_005634.3(SOX3):c.20A>G (p.Asn7Ser) rs1262847980 0.00002
NM_005862.3(STAG1):c.471+4T>G rs1308814193 0.00002
NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys) rs745452954 0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln) rs747376669 0.00002
NM_006922.4(SCN3A):c.2329A>T (p.Met777Leu) rs746866750 0.00002
NM_007198.4(PLPBP):c.40G>C (p.Gly14Arg) rs780857882 0.00002
NM_007198.4(PLPBP):c.52C>T (p.Arg18Trp) rs1341738221 0.00002
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_007327.4(GRIN1):c.794-11T>A rs1347697507 0.00002
NM_014334.4(FRRS1L):c.487G>A (p.Val163Ile) rs374214528 0.00002
NM_014806.5(RUSC2):c.1568G>A (p.Arg523His) rs753457122 0.00002
NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp) rs756124282 0.00002
NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His) rs750208984 0.00002
NM_015107.3(PHF8):c.-56C>T rs376594438 0.00002
NM_015338.6(ASXL1):c.1589C>T (p.Ala530Val) rs988568801 0.00002
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys) rs573582894 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018255.4(ELP2):c.2045A>T (p.Lys682Met) rs113810922 0.00002
NM_018489.3(ASH1L):c.5051G>A (p.Arg1684Gln) rs1280114281 0.00002
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) rs1295882768 0.00002
NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe) rs781981612 0.00002
NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys) rs782548063 0.00002
NM_020987.5(ANK3):c.11155C>T (p.Arg3719Cys) rs532004139 0.00002
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln) rs774313309 0.00002
NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile) rs745663188 0.00002
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp) rs745990822 0.00002
NM_022786.3(ARV1):c.29A>G (p.Gln10Arg) rs747844345 0.00002
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys) rs758805684 0.00002
NM_024298.5(MBOAT7):c.854+8G>A rs751520193 0.00002
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile) rs753445500 0.00002
NM_031466.8(TRAPPC9):c.-249C>T rs1446002001 0.00002
NM_138501.6(TECR):c.161C>G (p.Pro54Arg) rs772297819 0.00002
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) rs556044910 0.00002
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu) rs768025261 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) rs200881798 0.00002
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu) rs537377433 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
NM_000368.5(TSC1):c.106+4A>G rs373075566 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1263+5G>A rs767745683 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) rs1343881428 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647 0.00001
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu) rs749414404 0.00001
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) rs1374339026 0.00001
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) rs757370776 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) rs1845082733 0.00001
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) rs1554820281 0.00001
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser) rs1210523479 0.00001
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr) rs747053008 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) rs1470270925 0.00001
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) rs747251435 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly) rs775780584 0.00001
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr) rs1557140828 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val) rs1365616275 0.00001
NM_000548.5(TSC2):c.134T>G (p.Leu45Arg) rs1383831944 0.00001
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met) rs1188230416 0.00001
NM_000548.5(TSC2):c.1423A>G (p.Ile475Val) rs1196710568 0.00001
NM_000548.5(TSC2):c.1946+9G>T rs1470276886 0.00001
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala) rs763351805 0.00001
NM_000548.5(TSC2):c.2248C>T (p.Leu750Phe) rs754885213 0.00001
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr) rs758234726 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2515A>G (p.Met839Val) rs876660457 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.2858C>A (p.Pro953His) rs1303011979 0.00001
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) rs147523833 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2956G>A (p.Val986Met) rs765489754 0.00001
NM_000548.5(TSC2):c.2971A>G (p.Ile991Val) rs369524855 0.00001
NM_000548.5(TSC2):c.3199G>C (p.Val1067Leu) rs200681169 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe) rs886039876 0.00001
NM_000548.5(TSC2):c.3739A>G (p.Thr1247Ala) rs369961807 0.00001
NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala) rs771499212 0.00001
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104 0.00001
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu) rs1384101814 0.00001
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) rs777592623 0.00001
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly) rs767444397 0.00001
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg) rs1555498118 0.00001
NM_000548.5(TSC2):c.5086G>T (p.Asp1696Tyr) rs1555440048 0.00001
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185 0.00001
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) rs45517414 0.00001
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu) rs781139561 0.00001
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu) rs796053479 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp) rs768385119 0.00001
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys) rs1234808455 0.00001
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658 0.00001
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys) rs752289948 0.00001
NM_000834.5(GRIN2B):c.3004G>C (p.Gly1002Arg) rs761281000 0.00001
NM_000836.4(GRIN2D):c.1085+13G>A rs956727278 0.00001
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr) rs759019629 0.00001
NM_001003694.2(BRPF1):c.1748C>T (p.Ala583Val) rs1449069293 0.00001
NM_001003694.2(BRPF1):c.47C>T (p.Ala16Val) rs1465578133 0.00001
NM_001037333.3(CYFIP2):c.2381T>C (p.Ile794Thr) rs934692505 0.00001
NM_001039591.3(USP9X):c.6359T>C (p.Ile2120Thr) rs1335823796 0.00001
NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr) rs1186136318 0.00001
NM_001040142.2(SCN2A):c.5047G>T (p.Ala1683Ser) rs764538126 0.00001
NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser) rs576126444 0.00001
NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn) rs1567718073 0.00001
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His) rs557870972 0.00001
NM_001045.6(SLC6A4):c.837+2T>C rs1315158539 0.00001
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405 0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp) rs781036625 0.00001
NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr) rs917595672 0.00001
NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys) rs751049970 0.00001
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser) rs769718049 0.00001
NM_001100913.3(PACS2):c.58G>A (p.Val20Met) rs2058502984 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln) rs369172518 0.00001
NM_001111125.3(IQSEC2):c.3451+17C>T rs1057522236 0.00001
NM_001127178.3(PIGG):c.2207C>T (p.Ala736Val) rs745563663 0.00001
NM_001127178.3(PIGG):c.305C>A (p.Ser102Tyr) rs1310018267 0.00001
NM_001127178.3(PIGG):c.908T>C (p.Ile303Thr) rs1459250449 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser) rs768764350 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser) rs746906096 0.00001
NM_001145073.3(USP27X):c.1157G>A (p.Arg386Gln) rs1557162735 0.00001
NM_001145073.3(USP27X):c.94G>A (p.Glu32Lys) rs369669737 0.00001
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg) rs149274458 0.00001
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys) rs1006238101 0.00001
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) rs992608564 0.00001
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) rs141188608 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His) rs1185705971 0.00001
NM_001244008.2(KIF1A):c.1267G>A (p.Ala423Thr) rs1345536541 0.00001
NM_001244008.2(KIF1A):c.4046T>C (p.Met1349Thr) rs1045777400 0.00001
NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His) rs755301795 0.00001
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr) rs1383472329 0.00001
NM_001277062.2(MFF):c.678A>G (p.Ile226Met) rs756607883 0.00001
NM_001277062.2(MFF):c.749T>G (p.Ile250Ser) rs1278600625 0.00001
NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys) rs1981147662 0.00001
NM_001282597.3(CTNNA2):c.1450G>A (p.Val484Ile) rs753989146 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001347721.2(DYRK1A):c.1883C>T (p.Thr628Met) rs142149555 0.00001
NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys) rs1157793506 0.00001
NM_001365536.1(SCN9A):c.5164C>T (p.Pro1722Ser) rs201264153 0.00001
NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr) rs200876442 0.00001
NM_001365999.1(SZT2):c.10155+5G>C rs755843150 0.00001
NM_001365999.1(SZT2):c.2759G>A (p.Gly920Asp) rs764539994 0.00001
NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val) rs200635457 0.00001
NM_001365999.1(SZT2):c.3919+16G>A rs753803790 0.00001
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) rs745970630 0.00001
NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val) rs755029775 0.00001
NM_001365999.1(SZT2):c.9160G>A (p.Val3054Met) rs565123375 0.00001
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg) rs148287864 0.00001
NM_001367561.1(DOCK7):c.3098G>A (p.Arg1033Lys) rs1413099334 0.00001
NM_001367561.1(DOCK7):c.3689C>A (p.Ser1230Tyr) rs765024443 0.00001
NM_001367561.1(DOCK7):c.5819G>A (p.Arg1940Gln) rs779959516 0.00001
NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val) rs1294169574 0.00001
NM_001371727.1(GABRB2):c.1325G>A (p.Arg442Gln) rs779091017 0.00001
NM_001371928.1(AHDC1):c.3155C>T (p.Thr1052Met) rs1444728315 0.00001
NM_001371928.1(AHDC1):c.4562T>C (p.Met1521Thr) rs1363372692 0.00001
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=) rs1407178236 0.00001
NM_001376.5(DYNC1H1):c.12514-5A>G rs774476953 0.00001
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala) rs1001125376 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378778.1(MPDZ):c.5379G>A (p.Lys1793=) rs866183007 0.00001
NM_001378778.1(MPDZ):c.5507C>G (p.Ser1836Cys) rs755059203 0.00001
NM_001386140.1(MTTP):c.393+5A>G rs771577895 0.00001
NM_001386298.1(CIC):c.5455C>T (p.Pro1819Ser) rs778737030 0.00001
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) rs746465319 0.00001
NM_001543.5(NDST1):c.883G>A (p.Val295Met) rs747017483 0.00001
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp) rs953773970 0.00001
NM_002547.3(OPHN1):c.1201+3A>G rs1482683297 0.00001
NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys) rs1445335859 0.00001
NM_003042.4(SLC6A1):c.1526C>T (p.Ala509Val) rs769577441 0.00001
NM_003070.5(SMARCA2):c.4765G>C (p.Asp1589His) rs1380500654 0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter) rs1158418673 0.00001
NM_003194.5(TBP):c.410C>T (p.Pro137Leu) rs142540266 0.00001
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala) rs753848585 0.00001
NM_003491.4(NAA10):c.534C>A (p.Asn178Lys) rs1360898468 0.00001
NM_003620.4(PPM1D):c.134T>C (p.Leu45Pro) rs1433961136 0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=) rs772468981 0.00001
NM_003805.5(CRADD):c.-2A>G rs1431834925 0.00001
NM_003805.5(CRADD):c.-6-7T>C rs756888040 0.00001
NM_003865.3(HESX1):c.124C>T (p.His42Tyr) rs761470587 0.00001
NM_003977.4(AIP):c.104C>T (p.Thr35Met) rs376797001 0.00001
NM_003977.4(AIP):c.115C>T (p.Arg39Trp) rs781366620 0.00001
NM_003977.4(AIP):c.116G>A (p.Arg39Gln) rs139947406 0.00001
NM_003977.4(AIP):c.140G>A (p.Gly47Asp) rs1164577485 0.00001
NM_003977.4(AIP):c.160C>T (p.Arg54Trp) rs752553438 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.319A>G (p.Asn107Asp) rs758681469 0.00001
NM_003977.4(AIP):c.326C>T (p.Ala109Val) rs548910485 0.00001
NM_003977.4(AIP):c.356G>A (p.Arg119Gln) rs746414951 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.532G>A (p.Ala178Thr) rs762351007 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.782A>G (p.Tyr261Cys) rs780149133 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr) rs1392496114 0.00001
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys) rs1245355138 0.00001
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln) rs137861376 0.00001
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.4315-3C>T rs867496821 0.00001
NM_004341.5(CAD):c.4564-9C>G rs575379595 0.00001
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val) rs1041556030 0.00001
NM_004341.5(CAD):c.625C>G (p.Leu209Val) rs374182358 0.00001
NM_004341.5(CAD):c.859C>T (p.Arg287Cys) rs753478495 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004519.4(KCNQ3):c.477G>A (p.Leu159=) rs1826947671 0.00001
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) rs751590798 0.00001
NM_004933.3(CDH15):c.1615+5G>A rs1179286148 0.00001
NM_004933.3(CDH15):c.1742G>A (p.Arg581His) rs760002983 0.00001
NM_004933.3(CDH15):c.472A>G (p.Thr158Ala) rs755920647 0.00001
NM_004933.3(CDH15):c.658C>T (p.Arg220Cys) rs1405526562 0.00001
NM_005120.3(MED12):c.3692-7A>G rs1014804538 0.00001
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala) rs149824165 0.00001
NM_005634.3(SOX3):c.337G>A (p.Ala113Thr) rs1927341730 0.00001
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys) rs773661572 0.00001
NM_005918.4(MDH2):c.421G>A (p.Ala141Thr) rs782204186 0.00001
NM_006059.4(LAMC3):c.557G>A (p.Arg186His) rs145176060 0.00001
NM_006245.4(PPP2R5D):c.101A>C (p.Glu34Ala) rs1241116131 0.00001
NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr) rs1363040405 0.00001
NM_006279.5(ST3GAL3):c.303-9A>G rs762536905 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_006565.4(CTCF):c.638G>A (p.Arg213His) rs1390969954 0.00001
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr) rs549414130 0.00001
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile) rs780128851 0.00001
NM_006734.4(HIVEP2):c.3212C>T (p.Pro1071Leu) rs1327649883 0.00001
NM_006734.4(HIVEP2):c.4022A>C (p.His1341Pro) rs998840629 0.00001
NM_006734.4(HIVEP2):c.967A>G (p.Met323Val) rs1473641774 0.00001
NM_006765.4(TUSC3):c.308+3A>G rs778993933 0.00001
NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser) rs1044282559 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.773-5T>C rs1941832250 0.00001
NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val) rs950757813 0.00001
NM_007118.4(TRIO):c.7222C>G (p.Pro2408Ala) rs868112751 0.00001
NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn) rs372469431 0.00001
NM_013275.6(ANKRD11):c.3454A>G (p.Lys1152Glu) rs764756309 0.00001
NM_014026.6(DCPS):c.201+4C>G rs746334180 0.00001
NM_014159.7(SETD2):c.435G>C (p.Lys145Asn) rs749274416 0.00001
NM_014334.4(FRRS1L):c.544G>A (p.Ala182Thr) rs776628840 0.00001
NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg) rs760062265 0.00001
NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile) rs1290033369 0.00001
NM_014795.4(ZEB2):c.469G>A (p.Asp157Asn) rs1703365159 0.00001
NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu) rs763555777 0.00001
NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp) rs201335495 0.00001
NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala) rs145303576 0.00001
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln) rs1041188721 0.00001
NM_015100.4(POGZ):c.3425G>A (p.Arg1142Gln) rs778651356 0.00001
NM_015158.5(KANK1):c.1086G>C (p.Gln362His) rs747879222 0.00001
NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) rs770304192 0.00001
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met) rs192764146 0.00001
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn) rs764250569 0.00001
NM_015213.4(DENND5A):c.1940A>G (p.Asp647Gly) rs1392402979 0.00001
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys) rs758739555 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015275.3(WASHC4):c.2767A>G (p.Met923Val) rs779313558 0.00001
NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys) rs1880398314 0.00001
NM_015338.6(ASXL1):c.1387A>G (p.Ser463Gly) rs1161459110 0.00001
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) rs1477942819 0.00001
NM_015570.4(AUTS2):c.1766G>C (p.Gly589Ala) rs756954861 0.00001
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr) rs184782012 0.00001
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=) rs751469511 0.00001
NM_016219.5(MAN1B1):c.1765-20G>C rs1225685090 0.00001
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg) rs776114448 0.00001
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00001
NM_016614.3(TDP2):c.97G>T (p.Ala33Ser) rs760554150 0.00001
NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg) rs753065727 0.00001
NM_017635.5(KMT5B):c.1616G>A (p.Arg539Gln) rs367596003 0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser) rs746894472 0.00001
NM_018075.5(ANO10):c.1628G>A (p.Arg543His) rs372086237 0.00001
NM_018100.4(EFHC1):c.1640+19G>C rs1303813611 0.00001
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg) rs1414536488 0.00001
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser) rs1389450136 0.00001
NM_018489.3(ASH1L):c.2162A>C (p.Lys721Thr) rs767107285 0.00001
NM_018489.3(ASH1L):c.4835G>C (p.Gly1612Ala) rs1207751518 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe) rs776610158 0.00001
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr) rs1298917573 0.00001
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg) rs1458799973 0.00001
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val) rs372276373 0.00001
NM_020708.5(SLC12A5):c.148-16C>G rs751494861 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 0.00001
NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=) rs1394912099 0.00001
NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His) rs781832862 0.00001
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp) rs1249219901 0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420 0.00001
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503 0.00001
NM_021098.3(CACNA1H):c.2730G>C (p.Lys910Asn) rs1330732054 0.00001
NM_021098.3(CACNA1H):c.2789+16C>T rs59952053 0.00001
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr) rs1175867441 0.00001
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu) rs1199118621 0.00001
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln) rs1468102052 0.00001
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu) rs375274586 0.00001
NM_021120.4(DLG3):c.5A>C (p.His2Pro) rs1410761133 0.00001
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu) rs560817419 0.00001
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) rs917176878 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met) rs139499369 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln) rs772949764 0.00001
NM_030624.3(KLHL15):c.820C>T (p.Arg274Cys) rs1195344747 0.00001
NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg) rs761602649 0.00001
NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg) rs780326561 0.00001
NM_032409.3(PINK1):c.1123+19A>G rs762129771 0.00001
NM_032409.3(PINK1):c.161C>A (p.Ala54Glu) rs867771554 0.00001
NM_032737.4(LMNB2):c.891C>G (p.Asp297Glu) rs768380280 0.00001
NM_033453.4(ITPA):c.316G>C (p.Gly106Arg) rs202194282 0.00001
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=) rs918131106 0.00001
NM_052988.5(CDK10):c.684A>G (p.Ile228Met) rs753881294 0.00001
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly) rs985384811 0.00001
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) rs1225418115 0.00001
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser) rs373947421 0.00001
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu) rs1463093451 0.00001
NM_152564.5(VPS13B):c.3583A>G (p.Thr1195Ala) rs1027684992 0.00001
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile) rs1820042425 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr) rs1563849907 0.00001
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val) rs752505325 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_152641.4(ARID2):c.2556G>T (p.Gln852His) rs769786026 0.00001
NM_152743.4(BRAT1):c.1732C>T (p.His578Tyr) rs747577493 0.00001
NM_153033.5(KCTD7):c.763C>G (p.Gln255Glu) rs766720725 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) rs777542453 0.00001
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) rs758491411 0.00001
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00001
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp) rs1159750019 0.00001
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala) rs777755452 0.00001
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile) rs794727764 0.00001
NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr) rs527822279 0.00001
NM_198503.5(KCNT2):c.1295-18C>T rs1189514330 0.00001
NM_000051.4(ATM):c.1485A>G (p.Ile495Met) rs1565383283
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly) rs779980470
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu) rs1819724719
NM_000190.4(HMBS):c.671T>C (p.Val224Ala) rs963558406
NM_000193.4(SHH):c.736G>T (p.Asp246Tyr)
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106
NM_000368.5(TSC1):c.1030-5C>G rs1588323218
NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser)
NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu)
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp) rs1460150475
NM_000368.5(TSC1):c.116C>G (p.Pro39Arg) rs770831962
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser) rs1845904238
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1264-3C>G
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe) rs1564482602
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.173T>C (p.Leu58Ser)
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) rs1588309097
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg) rs1471587230
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg)
NM_000368.5(TSC1):c.203A>T (p.His68Leu)
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) rs1845511359
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro) rs200827913
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro)
NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg)
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys) rs1588304163
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) rs1845494587
NM_000368.5(TSC1):c.2185C>G (p.Leu729Val)
NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys)
NM_000368.5(TSC1):c.2208+7A>T
NM_000368.5(TSC1):c.225G>C (p.Arg75Ser)
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) rs118203675
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) rs1588301564
NM_000368.5(TSC1):c.2378G>T (p.Ser793Ile)
NM_000368.5(TSC1):c.2392-93C>T
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro)
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) rs76667066
NM_000368.5(TSC1):c.2504T>A (p.Leu835His)
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) rs1845329722
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr) rs1845148693
NM_000368.5(TSC1):c.268C>T (p.Leu90Phe) rs2132235523
NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu) rs397514871
NM_000368.5(TSC1):c.2814-2A>T
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn) rs1845130264
NM_000368.5(TSC1):c.2869G>T (p.Val957Leu)
NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys)
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) rs1176815392
NM_000368.5(TSC1):c.315T>A (p.His105Gln)
NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del)
NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg)
NM_000368.5(TSC1):c.323C>T (p.Ser108Phe)
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) rs747053008
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp)
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) rs1845031012
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr) rs2131585152
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser) rs1846672854
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
NM_000368.5(TSC1):c.507A>G (p.Pro169=) rs1846669296
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) rs952813051
NM_000368.5(TSC1):c.526T>C (p.Tyr176His)
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.575A>G (p.Tyr192Cys)
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.616C>T (p.His206Tyr)
NM_000368.5(TSC1):c.664-43C>G
NM_000368.5(TSC1):c.676C>G (p.His226Asp) rs2132137589
NM_000368.5(TSC1):c.796C>G (p.Pro266Ala)
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu) rs118203459
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
NM_000368.5(TSC1):c.932C>A (p.Pro311His) rs776158460
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.1655C>G (p.Thr552Ser) rs2071378519
NM_000489.6(ATRX):c.2323G>C (p.Asp775His) rs2071322741
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.6(ATRX):c.485-7C>A rs1225852818
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) rs2071445748
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) rs1907477324
NM_000515.5(GH1):c.302T>C (p.Leu101Pro) rs1907452711
NM_000515.5(GH1):c.588G>A (p.Met196Ile) rs1907385621
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys) rs1417317737
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser) rs1057518709
NM_000521.4(HEXB):c.771+5G>C rs727503959
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.5(TSC2):c.1024A>C (p.Ile342Leu)
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val) rs902767624
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro) rs1060500919
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met) rs1409309186
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val) rs1409309186
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1202A>C (p.His401Pro) rs2086691569
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp) rs771561593
NM_000548.5(TSC2):c.1205G>A (p.Gly402Glu) rs777172185
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.5(TSC2):c.1215G>T (p.Glu405Asp)
NM_000548.5(TSC2):c.121A>T (p.Thr41Ser) rs1596234558
NM_000548.5(TSC2):c.1257+172C>G
NM_000548.5(TSC2):c.1258-6T>A
NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)
NM_000548.5(TSC2):c.1295A>G (p.Gln432Arg)
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln) rs796053485
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys) rs535984356
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1417C>G (p.Leu473Val) rs1321215329
NM_000548.5(TSC2):c.142C>G (p.Leu48Val) rs1486839704
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.1495G>A (p.Asp499Asn) rs1555502438
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp) rs746366461
NM_000548.5(TSC2):c.1559A>G (p.His520Arg) rs1220672669
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr) rs2151191974
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) rs924098595
NM_000548.5(TSC2):c.160C>T (p.Leu54Phe) rs1394176023
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro) rs763183991
NM_000548.5(TSC2):c.1676A>G (p.Asp559Gly) rs767619776
NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser) rs45517196
NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val) rs1285778253
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
NM_000548.5(TSC2):c.1867G>A (p.Ala623Thr)
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) rs1596342515
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1912G>C (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe) rs746677177
NM_000548.5(TSC2):c.1955A>T (p.Glu652Val)
NM_000548.5(TSC2):c.1958G>A (p.Arg653Lys) rs876658202
NM_000548.5(TSC2):c.1988T>G (p.Leu663Arg) rs1555506026
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala) rs1338802781
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly) rs760489473
NM_000548.5(TSC2):c.2094G>C (p.Lys698Asn) rs752256613
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala) rs397515068
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser) rs182538665
NM_000548.5(TSC2):c.2188G>A (p.Val730Met) rs1555506559
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2225C>T (p.Ser742Leu) rs45517220
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro) rs2151327279
NM_000548.5(TSC2):c.2288A>C (p.His763Pro)
NM_000548.5(TSC2):c.2288A>T (p.His763Leu)
NM_000548.5(TSC2):c.2303C>T (p.Pro768Leu) rs1555506977
NM_000548.5(TSC2):c.2351A>C (p.Lys784Thr) rs1489548085
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val) rs1596356585
NM_000548.5(TSC2):c.2512A>G (p.Ser838Gly)
NM_000548.5(TSC2):c.2524C>G (p.Pro842Ala)
NM_000548.5(TSC2):c.2546-6C>G
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val) rs1596364874
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser) rs1555508378
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu) rs750336814
NM_000548.5(TSC2):c.2608G>A (p.Ala870Thr) rs1060500975
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu) rs2151382293
NM_000548.5(TSC2):c.2656G>A (p.Val886Met) rs999523698
NM_000548.5(TSC2):c.2683A>T (p.Met895Leu) rs45470695
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser) rs1555496979
NM_000548.5(TSC2):c.2734A>C (p.Ile912Leu)
NM_000548.5(TSC2):c.2755A>G (p.Asn919Asp)
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp) rs968144525
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly) rs2151396480
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)
NM_000548.5(TSC2):c.2992G>C (p.Ala998Pro) rs1440361406
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.3010G>T (p.Asp1004Tyr)
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro) rs1555510317
NM_000548.5(TSC2):c.3167G>A (p.Arg1056Lys)
NM_000548.5(TSC2):c.3227G>C (p.Gly1076Ala)
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu) rs397515087
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys) rs1085307762
NM_000548.5(TSC2):c.3263T>C (p.Leu1088Pro)
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.332G>A (p.Gly111Glu)
NM_000548.5(TSC2):c.3393G>T (p.Met1131Ile) rs1297504532
NM_000548.5(TSC2):c.3437C>T (p.Ala1146Val) rs2089957253
NM_000548.5(TSC2):c.3458C>T (p.Ala1153Val)
NM_000548.5(TSC2):c.3473C>G (p.Pro1158Arg) rs992338076
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
NM_000548.5(TSC2):c.3503A>G (p.Lys1168Arg)
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.3562C>G (p.Pro1188Ala)
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg) rs755559677
NM_000548.5(TSC2):c.3611-5C>A rs200194551
NM_000548.5(TSC2):c.3637G>A (p.Glu1213Lys)
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu) rs933257311
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu) rs547231441
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg) rs2151483328
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly) rs2090265922
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser) rs1008733639
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr) rs1349341137
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala) rs777398393
NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu) rs775990159
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3968C>A (p.Ala1323Glu) rs397515062
NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.5(TSC2):c.39G>T (p.Glu13Asp) rs766814650
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser) rs2090436302
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp) rs148527903
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4100G>A (p.Gly1367Asp) rs1460776110
NM_000548.5(TSC2):c.4196G>T (p.Gly1399Val)
NM_000548.5(TSC2):c.4235C>T (p.Pro1412Leu)
NM_000548.5(TSC2):c.4280G>A (p.Ser1427Asn)
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn) rs1425542648
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala) rs1596265301
NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val) rs2090531407
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys) rs2090535225
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) rs1202676769
NM_000548.5(TSC2):c.4435G>C (p.Ala1479Pro)
NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)
NM_000548.5(TSC2):c.4475T>C (p.Val1492Ala)
NM_000548.5(TSC2):c.4478C>T (p.Pro1493Leu) rs2090543900
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met) rs928525608
NM_000548.5(TSC2):c.4514A>G (p.Tyr1505Cys) rs2090580905
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys) rs746246149
NM_000548.5(TSC2):c.4534G>C (p.Asp1512His) rs774441486
NM_000548.5(TSC2):c.4567G>A (p.Glu1523Lys) rs2090589588
NM_000548.5(TSC2):c.4570-2A>G rs2151549641
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.4600C>G (p.Leu1534Val) rs375520841
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln) rs753060862
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) rs878854109
NM_000548.5(TSC2):c.4655_4656delinsGC (p.Glu1552Gly) rs2151553737
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser) rs876659806
NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys) rs1555516036
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser) rs796053499
NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu) rs1366814192
NM_000548.5(TSC2):c.476A>T (p.Glu159Val) rs1555497716
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg) rs1596439144
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu) rs772687631
NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn) rs878854111
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr) rs2090791005
NM_000548.5(TSC2):c.4850-5C>G
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val) rs1555516628
NM_000548.5(TSC2):c.4942A>C (p.Ile1648Leu) rs749554579
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=) rs1567124948
NM_000548.5(TSC2):c.4993C>G (p.Gln1665Glu) rs45448101
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp) rs1182240785
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser) rs777223264
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr) rs1267700080
NM_000548.5(TSC2):c.5102_5104del (p.Lys1701del)
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His) rs1300582033
NM_000548.5(TSC2):c.5125C>T (p.Pro1709Ser) rs2091094853
NM_000548.5(TSC2):c.5134G>A (p.Ala1712Thr) rs1596457926
NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro) rs1555440475
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro) rs1596460327
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala) rs1596460327
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val) rs878854117
NM_000548.5(TSC2):c.5259+34C>T
NM_000548.5(TSC2):c.5260-18A>G
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5302G>C (p.Val1768Leu)
NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg) rs771357054
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.5(TSC2):c.5357C>T (p.Pro1786Leu) rs770117004
NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
NM_000548.5(TSC2):c.585C>G (p.Ile195Met) rs397515309
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.5(TSC2):c.718A>G (p.Ile240Val) rs796053482
NM_000548.5(TSC2):c.721G>C (p.Val241Leu) rs200943828
NM_000548.5(TSC2):c.724A>G (p.Thr242Ala)
NM_000548.5(TSC2):c.746T>C (p.Val249Ala) rs1596278719
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu) rs2085894886
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly) rs45517130
NM_000548.5(TSC2):c.83C>G (p.Pro28Arg)
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly) rs1596280931
NM_000548.5(TSC2):c.850G>A (p.Ala284Thr)
NM_000548.5(TSC2):c.89C>G (p.Ser30Cys) rs1425163522
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)
NM_000548.5(TSC2):c.934C>T (p.Leu312Phe) rs755368431
NM_000548.5(TSC2):c.955G>A (p.Val319Met) rs1432086775
NM_000548.5(TSC2):c.995A>G (p.Glu332Gly)
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn) rs1397681630
NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys) rs371934652
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter) rs786205528
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.803T>G (p.Ile268Arg)
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) rs796052310
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter) rs374449470
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu) rs1555837732
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn) rs2068560302
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu) rs201018244
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys) rs1064795157
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) rs1943727741
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) rs1728466964
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro) rs1890741727
NM_000827.4(GRIA1):c.210G>A (p.Met70Ile)
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg) rs1565478152
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.1783C>A (p.Pro595Thr) rs766030730
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.2071A>G (p.Thr691Ala) rs1565457892
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) rs1565457062
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg) rs1565455878
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys) rs199834850
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala) rs1971296612
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val) rs753854352
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu) rs2090483867
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg) rs782081961
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp) rs1227019809
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
NM_001003694.2(BRPF1):c.2213C>G (p.Ala738Gly) rs2077060272
NM_001003694.2(BRPF1):c.227C>T (p.Pro76Leu) rs2076904563
NM_001003694.2(BRPF1):c.2297A>G (p.His766Arg) rs1418794034
NM_001003694.2(BRPF1):c.2339T>A (p.Leu780Gln) rs2077069157
NM_001003694.2(BRPF1):c.2851G>A (p.Gly951Ser) rs2077087707
NM_001003694.2(BRPF1):c.3571C>A (p.Arg1191Ser)
NM_001008537.3(NEXMIF):c.1130A>G (p.Asp377Gly)
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) rs891017786
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe) rs1556016358
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe) rs2080097689
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro) rs2080097127
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr) rs2080117655
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)
NM_001015877.2(PHF6):c.969-6T>G rs2077504087
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr) rs1017436032
NM_001020658.2(PUM1):c.50C>T (p.Ser17Phe)
NM_001020658.2(PUM1):c.949A>C (p.Asn317His) rs2124486243
NM_001024845.3(SLC6A9):c.31-6241del rs1460786911
NM_001032221.6(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_001032221.6(STXBP1):c.679C>T (p.Arg227Cys)
NM_001032382.2(PQBP1):c.643G>C (p.Gly215Arg) rs1557041816
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) rs1569510706
NM_001037.5(SCN1B):c.*13G>A rs1555721564
NM_001037.5(SCN1B):c.634A>T (p.Thr212Ser)
NM_001037333.3(CYFIP2):c.1391T>G (p.Met464Arg)
NM_001037333.3(CYFIP2):c.1540C>T (p.Arg514Ter) rs868243549
NM_001037333.3(CYFIP2):c.1834C>A (p.Gln612Lys) rs1760952349
NM_001037333.3(CYFIP2):c.2011A>G (p.Asn671Asp) rs1761007330
NM_001037333.3(CYFIP2):c.2558A>G (p.Asn853Ser) rs1762073906
NM_001039350.3(DPP6):c.19A>G (p.Ile7Val) rs1798992983
NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr) rs2062519632
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=) rs2062543205
NM_001039591.3(USP9X):c.1986-5dup rs1407518245
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp) rs2062716219
NM_001039591.3(USP9X):c.4829A>G (p.Asn1610Ser) rs1569193411
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
NM_001039591.3(USP9X):c.5842G>A (p.Ala1948Thr)
NM_001039591.3(USP9X):c.7366T>C (p.Phe2456Leu) rs2063343838
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.367A>C (p.Ile123Leu) rs1396703741
NM_001040142.2(SCN2A):c.3849+4A>G rs1700958754
NM_001040142.2(SCN2A):c.4255-3C>T rs1553461654
NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)
NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly) rs1596871384
NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser) rs2037687560
NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln) rs2038477427
NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn) rs2037993710
NM_001077418.3(TMEM231):c.140-33C>G rs901311435
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) rs1348700844
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu) rs1923920343
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys) rs1923919394
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr) rs1925231122
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)
NM_001080397.3(SLC45A1):c.110G>T (p.Arg37Leu) rs12074190
NM_001080397.3(SLC45A1):c.1954C>T (p.Leu652Phe) rs534819852
NM_001080397.3(SLC45A1):c.742G>C (p.Val248Leu) rs1640342478
NM_001080397.3(SLC45A1):c.938C>G (p.Ser313Cys) rs927593220
NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)
NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu) rs762288121
NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg) rs1891200660
NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)
NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys) rs2077335572
NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr) rs138247613
NM_001080510.5(METTL23):c.521G>T (p.Gly174Val) rs1395171597
NM_001081550.2(THOC2):c.195G>C (p.Gln65His) rs2050956716
NM_001081550.2(THOC2):c.2993G>A (p.Arg998His) rs1326074013
NM_001098511.3(KIF2A):c.1A>G (p.Met1Val)
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser) rs979733757
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro) rs1942124594
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu) rs1942189447
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln) rs1933583293
NM_001100913.3(PACS2):c.1351G>A (p.Ala451Thr)
NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala) rs1700885234
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) rs2065927241
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) rs2065960775
NM_001111125.3(IQSEC2):c.2846C>T (p.Ser949Phe)
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu) rs2074253394
NM_001111125.3(IQSEC2):c.340G>A (p.Val114Met) rs2075423571
NM_001112741.2(KCNC1):c.215G>T (p.Arg72Leu) rs1848764021
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg) rs1848768884
NM_001127178.3(PIGG):c.1210C>G (p.Leu404Val) rs1347377154
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=) rs766083746
NM_001127178.3(PIGG):c.2240C>T (p.Pro747Leu) rs1329504961
NM_001127178.3(PIGG):c.2576A>G (p.Asn859Ser) rs745840866
NM_001127178.3(PIGG):c.846C>A (p.Thr282=) rs144638389
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) rs2145192584
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg) rs2057946815
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly) rs2057731579
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.5940+18C>G rs1057522421
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys) rs1433873178
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val) rs1568574634
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) rs2059190094
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe) rs2054617641
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser) rs766491965
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn) rs1855652617
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His) rs369215353
NM_001134407.3(GRIN2A):c.1087G>T (p.Val363Leu) rs2043684301
NM_001134407.3(GRIN2A):c.1313A>G (p.Lys438Arg) rs2042848665
NM_001134407.3(GRIN2A):c.1516G>A (p.Val506Ile) rs368188808
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val) rs1567329011
NM_001134407.3(GRIN2A):c.2748C>G (p.Asp916Glu)
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser) rs560057284
NM_001134407.3(GRIN2A):c.3230G>C (p.Ser1077Thr) rs1427368529
NM_001134407.3(GRIN2A):c.3379G>C (p.Gly1127Arg) rs1360004561
NM_001134407.3(GRIN2A):c.3896C>G (p.Pro1299Arg) rs1156972587
NM_001134407.3(GRIN2A):c.3979A>G (p.Ser1327Gly)
NM_001134407.3(GRIN2A):c.4234T>A (p.Cys1412Ser) rs1262702313
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del) rs775540481
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001136035.4(TRMT1):c.1019+9G>C rs375881785
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser) rs753225455
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp) rs1006351159
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala) rs759911177
NM_001139500.2(FGF13):c.137C>T (p.Ser46Phe)
NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)
NM_001145358.2(SIN3A):c.776A>C (p.His259Pro) rs1180165033
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His) rs1247214249
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp) rs759330508
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro) rs1829977055
NM_001160372.4(TRAPPC9):c.3250G>A (p.Val1084Met)
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) rs1564596167
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) rs1915232687
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) rs1915315281
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) rs748793270
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) rs199995527
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) rs150784268
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
NM_001165963.4(SCN1A):c.1377+3A>G
NM_001165963.4(SCN1A):c.1549G>A (p.Glu517Lys)
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro) rs1693190884
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro) rs1692164539
NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4339-16T>G rs1690353157
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) rs121918813
NM_001165963.4(SCN1A):c.5425T>C (p.Tyr1809His) rs1689219278
NM_001165963.4(SCN1A):c.5806A>G (p.Lys1936Glu) rs796053049
NM_001172509.2(SATB2):c.701-12A>T rs116585116
NM_001182.5(ALDH7A1):c.246+7GT[22] rs142510783
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) rs1928402131
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) rs1248114037
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001190274.2(FBXO11):c.107C>T (p.Pro36Leu) rs1412913967
NM_001190274.2(FBXO11):c.125A>G (p.Gln42Arg) rs975859124
NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val) rs112661514
NM_001190274.2(FBXO11):c.1484G>A (p.Cys495Tyr)
NM_001190274.2(FBXO11):c.172C>G (p.Pro58Ala) rs1678728572
NM_001190274.2(FBXO11):c.2542C>T (p.His848Tyr)
NM_001190274.2(FBXO11):c.626C>G (p.Pro209Arg) rs1672529787
NM_001191061.2(SLC25A22):c.658GAG[1] (p.Glu221del) rs1307254132
NM_001242896.3(DEPDC5):c.1828C>A (p.Leu610Ile) rs2089444709
NM_001242896.3(DEPDC5):c.2633+9T>G rs2091505022
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp) rs528863179
NM_001242896.3(DEPDC5):c.3612C>G (p.Cys1204Trp) rs2092932762
NM_001242896.3(DEPDC5):c.530T>G (p.Met177Arg) rs2084718245
NM_001242896.3(DEPDC5):c.836T>A (p.Ile279Asn) rs2086399384
NM_001242896.3(DEPDC5):c.872-3C>T rs2086521058
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser) rs2086522074
NM_001244008.2(KIF1A):c.1132C>T (p.Arg378Trp) rs1438039466
NM_001244008.2(KIF1A):c.194T>C (p.Ile65Thr) rs2055194876
NM_001244008.2(KIF1A):c.2022+3G>A rs566702367
NM_001244008.2(KIF1A):c.2213A>G (p.Asn738Ser) rs1559506707
NM_001244008.2(KIF1A):c.2445-3del
NM_001244008.2(KIF1A):c.2978-14T>G rs964376899
NM_001244008.2(KIF1A):c.4255A>G (p.Ser1419Gly) rs1388325896
NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu) rs1203273192
NM_001244008.2(KIF1A):c.4805C>G (p.Thr1602Ser) rs1232607807
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del) rs760590728
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.650C>T (p.Ser217Phe) rs876661202
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile) rs2080083465
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly) rs2054031451
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=) rs2054119126
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu) rs2054212404
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln) rs1430565994
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro) rs2054438338
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg) rs2076297587
NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile) rs1212150882
NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val) rs143474358
NM_001282531.3(ADNP):c.3056T>C (p.Met1019Thr) rs1243550758
NM_001282531.3(ADNP):c.638C>T (p.Ser213Leu) rs1981126911
NM_001282531.3(ADNP):c.872C>G (p.Ala291Gly) rs1981093578
NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)
NM_001303052.2(MYT1L):c.1295C>A (p.Thr432Asn) rs2053686318
NM_001303052.2(MYT1L):c.2712-4G>A rs201247999
NM_001318510.2(ACSL4):c.-10G>T
NM_001318510.2(ACSL4):c.1051A>G (p.Met351Val)
NM_001318510.2(ACSL4):c.1846G>T (p.Ala616Ser)
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=) rs1941787074
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser) rs1941432230
NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser) rs2045884809
NM_001330360.2(POLA1):c.3736G>C (p.Gly1246Arg)
NM_001330574.2(ZNF711):c.125T>G (p.Val42Gly)
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn) rs1426575922
NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala) rs2053762752
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val) rs764732335
NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val) rs1428800056
NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu) rs2036612429
NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)
NM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln) rs2037908174
NM_001349338.3(FOXP1):c.1664T>C (p.Leu555Pro) rs2036062834
NM_001349338.3(FOXP1):c.94C>A (p.Leu32Ile)
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001356.5(DDX3X):c.1858A>C (p.Ser620Arg)
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met) rs2063889558
NM_001356.5(DDX3X):c.846C>A (p.Ile282=) rs2063889864
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg) rs1698156445
NM_001365536.1(SCN9A):c.2219T>C (p.Ile740Thr) rs1697430038
NM_001365536.1(SCN9A):c.634G>A (p.Ala212Thr) rs1698679868
NM_001365999.1(SZT2):c.5779C>T (p.Arg1927Cys) rs370833658
NM_001365999.1(SZT2):c.6284A>G (p.Tyr2095Cys) rs947784174
NM_001365999.1(SZT2):c.640C>G (p.Gln214Glu) rs766552506
NM_001365999.1(SZT2):c.7136G>T (p.Arg2379Leu) rs1204610877
NM_001365999.1(SZT2):c.7916G>T (p.Ser2639Ile) rs1655152526
NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=) rs867941005
NM_001366521.1(ATP2B1):c.1550G>C (p.Gly517Ala)
NM_001366521.1(ATP2B1):c.3632G>T (p.Ser1211Ile)
NM_001367534.1(CAMK2G):c.1534+149C>A
NM_001367561.1(DOCK7):c.2654G>T (p.Arg885Ile) rs1645953907
NM_001367561.1(DOCK7):c.5494-4A>G
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) rs2072812741
NM_001367721.1(CASK):c.709-3C>T rs2067016459
NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg) rs2041962927
NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu) rs769660304
NM_001368397.1(FRMPD4):c.2737T>C (p.Ser913Pro) rs2042115084
NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe) rs1288896792
NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=) rs2042136593
NM_001368397.1(FRMPD4):c.422+9C>T rs2059220297
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val) rs1230504203
NM_001371727.1(GABRB2):c.181G>T (p.Ala61Ser) rs747969321
NM_001371928.1(AHDC1):c.2419G>C (p.Glu807Gln) rs2019411101
NM_001371928.1(AHDC1):c.2966G>T (p.Gly989Val) rs1209079898
NM_001371928.1(AHDC1):c.3539G>T (p.Gly1180Val) rs2019324481
NM_001371928.1(AHDC1):c.4479C>T (p.Gly1493=) rs1414986918
NM_001371928.1(AHDC1):c.724G>A (p.Ala242Thr) rs772896338
NM_001371928.1(AHDC1):c.732C>G (p.Ile244Met) rs2019549871
NM_001376.5(DYNC1H1):c.1544C>T (p.Ala515Val) rs1566998962
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr) rs2048038458
NM_001376.5(DYNC1H1):c.4074G>A (p.Lys1358=) rs2048116032
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr) rs1555409418
NM_001376.5(DYNC1H1):c.7779G>C (p.Leu2593Phe) rs2048330336
NM_001376929.1(SLC30A10):c.254C>T (p.Thr85Ile)
NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg) rs1680753685
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr) rs773779478
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile) rs1682172933
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu) rs1682261070
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln) rs2093820776
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp) rs2093283649
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr) rs1719718448
NM_001378778.1(MPDZ):c.2234T>C (p.Leu745Pro) rs1954519934
NM_001378778.1(MPDZ):c.2650G>C (p.Asp884His)
NM_001378778.1(MPDZ):c.3985G>A (p.Glu1329Lys)
NM_001378778.1(MPDZ):c.425A>G (p.Lys142Arg)
NM_001378778.1(MPDZ):c.5648G>T (p.Ser1883Ile) rs986731225
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) rs1827120184
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) rs1313170509
NM_001386298.1(CIC):c.3031T>C (p.Cys1011Arg) rs2037707528
NM_001386298.1(CIC):c.3974C>T (p.Pro1325Leu) rs2037898729
NM_001386298.1(CIC):c.4419G>T (p.Gln1473His) rs1599911754
NM_001386298.1(CIC):c.4946C>T (p.Pro1649Leu) rs2038053328
NM_001386298.1(CIC):c.6188G>C (p.Ser2063Thr) rs2038240262
NM_001386298.1(CIC):c.6747G>A (p.Lys2249=) rs2038327689
NM_001386298.1(CIC):c.7407C>G (p.Thr2469=) rs2038417716
NM_001386298.1(CIC):c.7416C>G (p.Ser2472Arg)
NM_001415.4(EIF2S3):c.1183-15A>G rs1379305185
NM_001429.4(EP300):c.1448A>T (p.Gln483Leu) rs2058919614
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp) rs747187417
NM_001429.4(EP300):c.5839A>G (p.Ile1947Val) rs977251718
NM_001429.4(EP300):c.5840_5848del (p.Ile1947_Gln1949del) rs1171171784
NM_001429.4(EP300):c.6350C>T (p.Thr2117Ile) rs2059213237
NM_001429.4(EP300):c.6815C>T (p.Pro2272Leu) rs1386526100
NM_001447.3(FAT2):c.1653del (p.Leu552fs)
NM_001447.3(FAT2):c.5662G>A (p.Gly1888Ser)
NM_001510.4(GRID2):c.-62C>T
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr) rs1728640535
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly) rs752073311
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) rs1755738807
NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala) rs2085079076
NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys) rs2085295702
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) rs1924590136
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) rs142375213
NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) rs1877834496
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)
NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser) rs1880406303
NM_001846.4(COL4A2):c.3205del (p.Arg1069fs)
NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)
NM_001846.4(COL4A2):c.4264C>T (p.Gln1422Ter)
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370
NM_001904.4(CTNNB1):c.1163T>C (p.Leu388Pro) rs1559474140
NM_001904.4(CTNNB1):c.2099T>C (p.Ile700Thr) rs2078481368
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_002025.4(AFF2):c.1173G>A (p.Gln391=) rs929635504
NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp) rs782268933
NM_002025.4(AFF2):c.1738C>T (p.Pro580Ser)
NM_002025.4(AFF2):c.2116A>G (p.Lys706Glu)
NM_002025.4(AFF2):c.2330C>T (p.Thr777Ile)
NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser) rs2072183498
NM_002074.5(GNB1):c.178G>A (p.Ala60Thr) rs1646845570
NM_002074.5(GNB1):c.267+7A>G rs1646696544
NM_002080.4(GOT2):c.1256G>A (p.Gly419Asp)
NM_002080.4(GOT2):c.233C>T (p.Pro78Leu)
NM_002112.4(HDC):c.1511C>A (p.Thr504Lys) rs750738762
NM_002139.4(RBMX):c.591A>G (p.Glu197=) rs1261521581
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) rs1360994640
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His) rs866834118
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
NM_002578.5(PAK3):c.786G>A (p.Gly262=) rs886044251
NM_002608.4(PDGFB):c.71C>A (p.Pro24His) rs1242118984
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr) rs1922155142
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr) rs769292201
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) rs1739849007
NM_003011.4(SET):c.73+351A>T rs1190048179
NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)
NM_003070.5(SMARCA2):c.-37+1G>T
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile) rs281875191
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003070.5(SMARCA2):c.274G>A (p.Gly92Arg) rs1316406047
NM_003070.5(SMARCA2):c.3448C>G (p.Pro1150Ala) rs1822944896
NM_003070.5(SMARCA2):c.4696G>A (p.Val1566Ile) rs1827870545
NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu) rs1373182486
NM_003128.3(SPTBN1):c.567-2_584delinsTTTTCCCTTCTGCTTTG rs1677689524
NM_003179.3(SYP):c.526A>G (p.Ile176Val) rs2065517128
NM_003365.3(UQCRC1):c.279G>C (p.Leu93Phe)
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe) rs1818184738
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro) rs1817930978
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser) rs761103069
NM_003619.4(PRSS12):c.2040-1G>C rs780630558
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro) rs767822958
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys) rs1724538705
NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg) rs1575088174
NM_003805.5(CRADD):c.316A>T (p.Ile106Phe) rs199846727
NM_003977.4(AIP):c.136G>A (p.Glu46Lys) rs772580337
NM_003977.4(AIP):c.139G>A (p.Gly47Ser) rs1462297112
NM_003977.4(AIP):c.13A>G (p.Ile5Val)
NM_003977.4(AIP):c.151G>A (p.Asp51Asn) rs1591042638
NM_003977.4(AIP):c.164C>T (p.Ala55Val) rs1865805899
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.236C>T (p.Thr79Ile)
NM_003977.4(AIP):c.238A>C (p.Met80Leu) rs1397533476
NM_003977.4(AIP):c.261G>C (p.Gln87His) rs767982777
NM_003977.4(AIP):c.279G>A (p.Lys93=)
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.362G>T (p.Cys121Phe)
NM_003977.4(AIP):c.419C>A (p.Ala140Asp)
NM_003977.4(AIP):c.433C>G (p.Pro145Ala) rs1865853260
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.539C>A (p.Pro180Gln)
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_004115.4(FGF14):c.20G>T (p.Ser7Ile)
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu) rs751782700
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys) rs1400780690
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln) rs1556837428
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del) rs2146819410
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp) rs766915720
NM_004341.5(CAD):c.208T>C (p.Phe70Leu) rs1674954573
NM_004341.5(CAD):c.223-2A>G rs1675149924
NM_004341.5(CAD):c.2401-5A>G rs759687469
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val) rs199990394
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu) rs759380014
NM_004366.6(CLCN2):c.1721+5G>A
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys) rs1318683084
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe) rs1476678901
NM_004380.3(CREBBP):c.3699-11C>A
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg) rs749189606
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr) rs1231016252
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004500.4(HNRNPC):c.318-16G>A
NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys) rs943073757
NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile) rs1227129126
NM_004519.4(KCNQ3):c.2129A>G (p.Tyr710Cys) rs1060500605
NM_004522.3(KIF5C):c.571C>T (p.Arg191Ter)
NM_004522.3(KIF5C):c.610A>G (p.Arg204Gly)
NM_004562.3(PRKN):c.1302G>A (p.Met434Ile) rs949479970
NM_004586.3(RPS6KA3):c.1443+6T>C rs2067519822
NM_004606.5(TAF1):c.1474A>T (p.Met492Leu) rs2033909793
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
NM_004606.5(TAF1):c.290C>T (p.Ala97Val) rs2032706255
NM_004606.5(TAF1):c.4452+3A>G rs2036334224
NM_004606.5(TAF1):c.4576-9A>G
NM_004715.5(CTDP1):c.773-9T>G
NM_004736.4(XPR1):c.1158C>G (p.Phe386Leu) rs61742073
NM_004830.4(MED23):c.1078-6T>G
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) rs1775691162
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) rs1775354988
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) rs146599947
NM_004840.3(ARHGEF6):c.1769G>A (p.Ser590Asn) rs2076312974
NM_004840.3(ARHGEF6):c.2024G>T (p.Gly675Val) rs1426557239
NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala) rs1598223846
NM_004859.4(CLTC):c.2909T>C (p.Leu970Pro)
NM_004859.4(CLTC):c.4080A>C (p.Glu1360Asp)
NM_004933.3(CDH15):c.1039C>T (p.Pro347Ser) rs1399460063
NM_004933.3(CDH15):c.1540G>A (p.Gly514Arg) rs1915650865
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala) rs1984245487
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_004975.4(KCNB1):c.568-12T>G rs1984280025
NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp) rs2037143763
NM_004977.3(KCNC3):c.1474A>G (p.Ile492Val)
NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)
NM_005027.4(PIK3R2):c.29G>A (p.Arg10His) rs1371555508
NM_005045.4(RELN):c.445C>T (p.Pro149Ser) rs374263472
NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly) rs1829002405
NM_005045.4(RELN):c.9634G>A (p.Gly3212Arg) rs1828588593
NM_005076.5(CNTN2):c.2431+5G>A rs1380526589
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser) rs1654685363
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys) rs2092311027
NM_005121.3(MED13):c.1523T>A (p.Phe508Tyr)
NM_005121.3(MED13):c.2126T>C (p.Phe709Ser) rs2080337191
NM_005121.3(MED13):c.4256G>T (p.Gly1419Val)
NM_005121.3(MED13):c.700G>A (p.Gly234Ser)
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu) rs1566446008
NM_005249.5(FOXG1):c.455G>T (p.Gly152Val) rs796052460
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp) rs1260261553
NM_005634.3(SOX3):c.1265G>A (p.Arg422His)
NM_005634.3(SOX3):c.791T>G (p.Val264Gly) rs1927323032
NM_005861.4(STUB1):c.612+11C>G rs1567281056
NM_005861.4(STUB1):c.755A>G (p.Tyr252Cys)
NM_005862.3(STAG1):c.1442C>A (p.Ala481Glu) rs2088687467
NM_005862.3(STAG1):c.1919A>G (p.Tyr640Cys) rs773332391
NM_005862.3(STAG1):c.2077T>C (p.Ser693Pro) rs1296664528
NM_005862.3(STAG1):c.2254A>C (p.Ile752Leu) rs2087239249
NM_005862.3(STAG1):c.2285T>C (p.Leu762Ser) rs1937685841
NM_005862.3(STAG1):c.2306T>C (p.Val769Ala) rs867178690
NM_005862.3(STAG1):c.253G>A (p.Val85Ile) rs1559904167
NM_005862.3(STAG1):c.42_44dup (p.Asn14_Glu15insAsp) rs1939944359
NM_005883.3(APC2):c.1796G>A (p.Ser599Asn)
NM_005883.3(APC2):c.3241C>G (p.Arg1081Gly)
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro) rs367655515
NM_005883.3(APC2):c.5772G>C (p.Gln1924His) rs2084082995
NM_005883.3(APC2):c.583C>T (p.Arg195Cys) rs1158412843
NM_005883.3(APC2):c.6111C>T (p.Phe2037=) rs1405418055
NM_005883.3(APC2):c.757C>T (p.Pro253Ser) rs555858661
NM_005883.3(APC2):c.796C>A (p.Pro266Thr) rs146579468
NM_005918.4(MDH2):c.465C>G (p.Phe155Leu) rs1797912166
NM_005918.4(MDH2):c.4C>G (p.Leu2Val) rs1797376152
NM_006013.5(RPL10):c.191-5C>T rs1286783643
NM_006013.5(RPL10):c.347G>A (p.Arg116Gln) rs2068007021
NM_006059.4(LAMC3):c.2950G>C (p.Val984Leu) rs527388604
NM_006059.4(LAMC3):c.4198G>A (p.Glu1400Lys) rs1830319465
NM_006078.5(CACNG2):c.956G>C (p.Arg319Pro)
NM_006086.4(TUBB3):c.350T>C (p.Leu117Pro)
NM_006086.4(TUBB3):c.446C>T (p.Thr149Met) rs2030399551
NM_006180.6(NTRK2):c.1306G>C (p.Val436Leu)
NM_006245.4(PPP2R5D):c.478C>T (p.Arg160Cys)
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) rs112835359
NM_006267.5(RANBP2):c.7125C>A (p.Asp2375Glu) rs1332179032
NM_006267.5(RANBP2):c.775C>G (p.Leu259Val) rs1695576898
NM_006279.5(ST3GAL3):c.118+39G>T rs766784665
NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg) rs2086850165
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) rs796053260
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=) rs150863093
NM_006516.4(SLC2A1):c.679+3A>G
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg) rs1928309226
NM_006545.5(NPRL2):c.260T>C (p.Phe87Ser)
NM_006545.5(NPRL2):c.416T>G (p.Leu139Arg)
NM_006565.4(CTCF):c.1745G>T (p.Gly582Val) rs2052333197
NM_006565.4(CTCF):c.1826C>A (p.Ser609Tyr) rs2052334460
NM_006565.4(CTCF):c.313G>A (p.Glu105Lys) rs2052056554
NM_006565.4(CTCF):c.538_540dup (p.Gln180dup) rs2052059839
NM_006565.4(CTCF):c.575A>C (p.Gln192Pro)
NM_006565.4(CTCF):c.798C>G (p.Phe266Leu) rs2052068318
NM_006586.5(CNPY3):c.241G>T (p.Asp81Tyr)
NM_006586.5(CNPY3):c.276-32G>A rs1325158416
NM_006586.5(CNPY3):c.50TGC[5] (p.Leu22_Leu25del)
NM_006586.5(CNPY3):c.674A>G (p.Lys225Arg) rs1768399256
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser) rs1656013992
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val) rs1655336497
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) rs786205458
NM_006734.4(HIVEP2):c.3281A>C (p.Gln1094Pro) rs1775541285
NM_006734.4(HIVEP2):c.4214C>G (p.Pro1405Arg) rs1775501318
NM_006734.4(HIVEP2):c.4828C>T (p.Arg1610Cys) rs1443329539
NM_006734.4(HIVEP2):c.6277G>A (p.Glu2093Lys) rs1775183672
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys) rs1822089938
NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) rs774544767
NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu) rs1821690064
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) rs1821679735
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr) rs1264564304
NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu) rs867327550
NM_006766.5(KAT6A):c.5575T>A (p.Ser1859Thr)
NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser) rs1776862933
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) rs1202720979
NM_006772.3(SYNGAP1):c.2393C>T (p.Pro798Leu) rs369972072
NM_006772.3(SYNGAP1):c.265C>G (p.Pro89Ala) rs1776944236
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg) rs145472959
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006772.3(SYNGAP1):c.3943T>C (p.Trp1315Arg) rs1761347666
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser) rs1761351808
NM_006772.3(SYNGAP1):c.745G>A (p.Ala249Thr) rs1777307917
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val) rs866272063
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu) rs755441595
NM_006908.5(RAC1):c.372C>G (p.Asp124Glu) rs1227283234
NM_006922.4(SCN3A):c.1580A>C (p.Glu527Ala) rs1688370923
NM_006922.4(SCN3A):c.3133A>G (p.Ile1045Val) rs894700711
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly) rs1060500006
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr) rs1259561654
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile) rs2105710443
NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly) rs371919862
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) rs1443491358
NM_006946.4(SPTBN2):c.3777-3C>G
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp) rs141925310
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg) rs2057941966
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_007118.4(TRIO):c.1577C>T (p.Ala526Val) rs1739400348
NM_007118.4(TRIO):c.1955T>C (p.Leu652Pro) rs1741443770
NM_007118.4(TRIO):c.3733G>A (p.Ala1245Thr) rs1384265862
NM_007118.4(TRIO):c.4241T>C (p.Leu1414Ser) rs1747347943
NM_007118.4(TRIO):c.4431T>G (p.Asp1477Glu) rs1338354694
NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile)
NM_007118.4(TRIO):c.5486C>G (p.Thr1829Arg) rs760274582
NM_007118.4(TRIO):c.5636G>A (p.Ser1879Asn) rs1753935398
NM_007118.4(TRIO):c.5980-14C>G rs1420875369
NM_007118.4(TRIO):c.6866A>G (p.Asn2289Ser) rs1756015567
NM_007118.4(TRIO):c.7301C>T (p.Ala2434Val) rs1756094324
NM_007118.4(TRIO):c.8237T>C (p.Ile2746Thr) rs1757054340
NM_007118.4(TRIO):c.8647C>T (p.Arg2883Ter) rs1438153964
NM_007198.4(PLPBP):c.347C>T (p.Thr116Ile) rs1803807471
NM_007198.4(PLPBP):c.823C>G (p.His275Asp) rs1803966484
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp) rs2045453992
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) rs1569441235
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1569442989
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) rs1569443329
NM_007325.5(GRIA3):c.268+16792G>A rs1927781157
NM_007325.5(GRIA3):c.69G>A (p.Leu23=) rs759740734
NM_007327.4(GRIN1):c.1205C>A (p.Thr402Lys)
NM_007327.4(GRIN1):c.1339+15C>T rs994140478
NM_007327.4(GRIN1):c.1376G>A (p.Cys459Tyr) rs1833529788
NM_007327.4(GRIN1):c.1483A>G (p.Lys495Glu) rs1833574504
NM_007327.4(GRIN1):c.1964T>A (p.Leu655Gln) rs1564363923
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) rs879255689
NM_012062.5(DNM1L):c.505C>T (p.Leu169Phe) rs1953210856
NM_012156.2(EPB41L1):c.1026+4A>G
NM_012156.2(EPB41L1):c.1844G>C (p.Ser615Thr) rs1569330133
NM_012156.2(EPB41L1):c.1892G>T (p.Ser631Ile) rs2063022720
NM_012216.4(MID2):c.1106T>C (p.Leu369Pro)
NM_012216.4(MID2):c.308T>G (p.Ile103Ser)
NM_012310.5(KIF4A):c.1123G>A (p.Gly375Arg) rs963879999
NM_012310.5(KIF4A):c.2111C>T (p.Thr704Met)
NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys) rs2086218922
NM_012310.5(KIF4A):c.2734A>G (p.Ile912Val) rs768717763
NM_012310.5(KIF4A):c.911A>G (p.Asn304Ser)
NM_013275.6(ANKRD11):c.196G>A (p.Ala66Thr) rs949172972
NM_013275.6(ANKRD11):c.2184CAG[1] (p.Ser729del) rs2034496534
NM_013275.6(ANKRD11):c.2426G>C (p.Arg809Thr) rs79174195
NM_013275.6(ANKRD11):c.3127C>A (p.Leu1043Met) rs1261967882
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln) rs1276607391
NM_013275.6(ANKRD11):c.4271C>T (p.Ser1424Phe) rs1567569737
NM_013275.6(ANKRD11):c.4553C>G (p.Ser1518Cys) rs1298767812
NM_013275.6(ANKRD11):c.521G>T (p.Arg174Leu) rs1258661652
NM_013275.6(ANKRD11):c.5543C>T (p.Pro1848Leu) rs1208038234
NM_013275.6(ANKRD11):c.6206G>A (p.Cys2069Tyr) rs763657561
NM_013275.6(ANKRD11):c.6224C>G (p.Ala2075Gly) rs2034085077
NM_013275.6(ANKRD11):c.6694C>A (p.Arg2232Ser) rs760007187
NM_013275.6(ANKRD11):c.6823G>T (p.Ala2275Ser) rs750990942
NM_013275.6(ANKRD11):c.6860G>C (p.Gly2287Ala) rs2033999753
NM_013275.6(ANKRD11):c.6874G>A (p.Asp2292Asn) rs2033997441
NM_013275.6(ANKRD11):c.77C>G (p.Thr26Ser) rs2036996668
NM_013275.6(ANKRD11):c.87+13C>T rs201730053
NM_014026.6(DCPS):c.791G>T (p.Arg264Leu) rs140377449
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu) rs1665131014
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val) rs767746826
NM_014159.7(SETD2):c.796C>T (p.His266Tyr)
NM_014334.3(FRRS1L):c.32C>G (p.Ala11Gly) rs560644274
NM_014334.4(FRRS1L):c.-17G>C rs1831566217
NM_014334.4(FRRS1L):c.269A>T (p.Asp90Val) rs959347221
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu) rs994425261
NM_014363.6(SACS):c.1627G>A (p.Val543Met) rs752705095
NM_014363.6(SACS):c.25G>A (p.Val9Ile) rs939705811
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr) rs1868664491
NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe) rs1436155983
NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala) rs1451522942
NM_014727.3(KMT2B):c.3458C>G (p.Ser1153Cys)
NM_014727.3(KMT2B):c.5786C>T (p.Ala1929Val)
NM_014727.3(KMT2B):c.848G>T (p.Gly283Val)
NM_014795.4(ZEB2):c.2176T>C (p.Ser726Pro) rs1703269897
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser) rs730881200
NM_014795.4(ZEB2):c.2840C>G (p.Ala947Gly) rs1560605826
NM_014795.4(ZEB2):c.2944T>C (p.Ser982Pro) rs1370024483
NM_014795.4(ZEB2):c.31C>T (p.Arg11Trp) rs1380456738
NM_014795.4(ZEB2):c.3467G>C (p.Gly1156Ala) rs1703128016
NM_014795.4(ZEB2):c.3538C>G (p.Arg1180Gly) rs756424812
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile) rs762004622
NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys) rs1563876680
NM_014806.5(RUSC2):c.567C>A (p.His189Gln) rs1030373633
NM_014806.5(RUSC2):c.61C>T (p.His21Tyr) rs1821748484
NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val) rs2092208925
NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln) rs1288431232
NM_015015.3(KDM4B):c.520A>G (p.Thr174Ala)
NM_015021.3(ZNF292):c.4717A>C (p.Asn1573His)
NM_015028.4(TNIK):c.2724G>T (p.Thr908=) rs377530882
NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu) rs35090763
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr) rs1844713785
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) rs1564464665
NM_015100.4(POGZ):c.2375A>G (p.Asn792Ser) rs1202818073
NM_015100.4(POGZ):c.4008T>G (p.Ile1336Met) rs1010981331
NM_015100.4(POGZ):c.634G>A (p.Val212Met) rs1553226286
NM_015100.4(POGZ):c.787C>G (p.Gln263Glu) rs1658090172
NM_015100.4(POGZ):c.83C>T (p.Ser28Phe) rs1439970488
NM_015107.3(PHF8):c.1185T>C (p.His395=) rs1468021929
NM_015107.3(PHF8):c.1233+6T>C
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) rs2065708006
NM_015107.3(PHF8):c.197G>A (p.Arg66His) rs1557110261
NM_015107.3(PHF8):c.2129+39G>C rs2065554551
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) rs782358977
NM_015107.3(PHF8):c.3062A>G (p.Lys1021Arg)
NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) rs1826539628
NM_015158.5(KANK1):c.271T>A (p.Ser91Thr)
NM_015158.5(KANK1):c.3709del (p.Ala1237fs) rs758879616
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro) rs769031961
NM_015160.3(PMPCA):c.897+6G>A rs150776126
NM_015166.4(MLC1):c.177G>A (p.Gly59=) rs2062237520
NM_015178.3(RHOBTB2):c.1702G>T (p.Asp568Tyr)
NM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser) rs1811324175
NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala) rs1810887469
NM_015178.3(RHOBTB2):c.651G>T (p.Trp217Cys)
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser) rs778097231
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln) rs755135706
NM_015213.4(DENND5A):c.2189T>C (p.Ile730Thr) rs1848175647
NM_015213.4(DENND5A):c.2908A>C (p.Met970Leu) rs1162225544
NM_015213.4(DENND5A):c.3068A>T (p.Lys1023Ile) rs372389104
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn) rs2095980355
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg) rs2095989201
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala) rs2096135808
NM_015215.4(CAMTA1):c.3521T>C (p.Leu1174Pro)
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu) rs1029054579
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu) rs976110882
NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser) rs1881275367
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met) rs746110094
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) rs368050346
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu) rs2137287209
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys) rs2137286817
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln) rs1461395322
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile) rs201002721
NM_015335.5(MED13L):c.6393_6415delinsAC (p.Leu2132_Ala2139delinsPro)
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser) rs1183900324
NM_015338.6(ASXL1):c.1225A>G (p.Lys409Glu) rs2011593291
NM_015338.6(ASXL1):c.3946C>G (p.Arg1316Gly) rs773951405
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu) rs1644798894
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
NM_015378.4(VPS13D):c.4451-16A>G rs768036528
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg) rs779567569
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg) rs868755481
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) rs2071375286
NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)
NM_015570.4(AUTS2):c.146C>T (p.Ala49Val) rs1792274277
NM_015570.4(AUTS2):c.421A>G (p.Arg141Gly)
NM_015570.4(AUTS2):c.743A>T (p.Asp248Val)
NM_015656.2(KIF26A):c.3335C>T (p.Ser1112Phe)
NM_016032.4(ZDHHC9):c.1057C>T (p.Pro353Ser)
NM_016032.4(ZDHHC9):c.421T>C (p.Cys141Arg) rs1927945327
NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)
NM_016120.4(RLIM):c.736A>G (p.Ile246Val) rs2079620974
NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys) rs1038179177
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys) rs1017935955
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn) rs929390325
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala) rs546612497
NM_016302.4(CRBN):c.29C>G (p.Ala10Gly) rs137880766
NM_016302.4(CRBN):c.40A>T (p.Met14Leu) rs753095651
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)
NM_016373.4(WWOX):c.*15G>T rs533890923
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del) rs770788315
NM_016373.4(WWOX):c.517-108226G>T rs1057518676
NM_016495.6(TBC1D7):c.381+143C>T rs1783977409
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) rs200449118
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)
NM_017635.5(KMT5B):c.2511GGA[1] (p.Glu838del) rs761209606
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=) rs1971378002
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn) rs1971475798
NM_017721.5(CC2D1A):c.2073+5G>T
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile) rs781498477
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala) rs1736795903
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly) rs747908747
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu) rs1736492714
NM_017755.6(NSUN2):c.604A>G (p.Met202Val) rs1737468532
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys) rs1456146368
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) rs1595818249
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_018026.4(PACS1):c.661-15T>A rs1565150720
NM_018075.5(ANO10):c.882C>G (p.Ile294Met) rs2081034644
NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe) rs1057521631
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser) rs2090517565
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp) rs151271332
NM_018489.3(ASH1L):c.1404TGT[1] (p.Val470del) rs754036049
NM_018489.3(ASH1L):c.2014T>G (p.Phe672Val) rs1665903377
NM_018489.3(ASH1L):c.2450G>A (p.Ser817Asn)
NM_018489.3(ASH1L):c.251A>G (p.Asn84Ser) rs1668868551
NM_018489.3(ASH1L):c.3397G>C (p.Val1133Leu) rs1665802694
NM_018489.3(ASH1L):c.3917G>A (p.Arg1306Gln) rs758885213
NM_018489.3(ASH1L):c.6104-3C>G rs1656806167
NM_018489.3(ASH1L):c.7291A>G (p.Asn2431Asp) rs1654048048
NM_018489.3(ASH1L):c.7513G>A (p.Ala2505Thr)
NM_018489.3(ASH1L):c.8447A>G (p.Lys2816Arg) rs1652858406
NM_018489.3(ASH1L):c.8642G>T (p.Arg2881Leu) rs375668916
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) rs2045220988
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg) rs2047867072
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) rs2050959815
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) rs1192468690
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) rs2053882218
NM_019023.5(PRMT7):c.282+3A>G rs2082913032
NM_019597.5(HNRNPH2):c.1195G>A (p.Gly399Arg)
NM_019842.4(KCNQ5):c.2788A>C (p.Lys930Gln) rs1765753921
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile) rs200347646
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu) rs202165125
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020361.5(CPA6):c.1096T>C (p.Tyr366His) rs1809934047
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala) rs767319743
NM_020699.4(GATAD2B):c.230A>G (p.Glu77Gly) rs1674946246
NM_020699.4(GATAD2B):c.288C>T (p.Gly96=)
NM_020699.4(GATAD2B):c.947T>A (p.Ile316Asn) rs1674488908
NM_020708.5(SLC12A5):c.2029C>A (p.Leu677Met) rs756040501
NM_020708.5(SLC12A5):c.2682T>A (p.His894Gln) rs2084676640
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu) rs749426883
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu) rs2084493674
NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu) rs1600595577
NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly) rs1931268073
NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala) rs1931218179
NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile) rs782154529
NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)
NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)
NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln) rs1929724067
NM_020771.4(HACE1):c.1351C>T (p.Arg451Trp) rs1455900509
NM_020821.3(VPS13C):c.7721G>A (p.Arg2574Lys)
NM_020822.3(KCNT1):c.1769+6G>A rs927454585
NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser) rs1564383774
NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr) rs779908455
NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu) rs1340962392
NM_020987.5(ANK3):c.2669A>G (p.Lys890Arg)
NM_020987.5(ANK3):c.3218A>G (p.Lys1073Arg) rs2092116910
NM_020987.5(ANK3):c.4766C>T (p.Pro1589Leu)
NM_020987.5(ANK3):c.6122T>C (p.Ile2041Thr) rs1179149288
NM_021008.4(DEAF1):c.1195G>T (p.Asp399Tyr)
NM_021008.4(DEAF1):c.151G>A (p.Asp51Asn) rs1861042069
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro) rs587777407
NM_021008.4(DEAF1):c.827C>T (p.Ala276Val)
NM_021008.4(DEAF1):c.970T>A (p.Leu324Met)
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) rs776850213
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) rs748665278
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) rs1469192494
NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro) rs1397714230
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala) rs1555515661
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) rs750607074
NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile) rs949144433
NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser) rs1966875937
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) rs1567558436
NM_021120.4(DLG3):c.985+36C>G
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp) rs555889038
NM_021728.4(OTX2):c.730G>A (p.Ala244Thr) rs1594952158
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282
NM_021956.5(GRIK2):c.1095+2T>A
NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe) rs1356066581
NM_021956.5(GRIK2):c.969G>A (p.Met323Ile) rs1780549634
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) rs200529993
NM_022089.4(ATP13A2):c.2896A>G (p.Ile966Val)
NM_022101.4(STEEP1):c.158G>T (p.Arg53Leu) rs769335743
NM_022101.4(STEEP1):c.44G>T (p.Arg15Leu) rs2053349208
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.5907G>A (p.Met1969Ile)
NM_022124.6(CDH23):c.5986G>A (p.Ala1996Thr)
NM_022124.6(CDH23):c.9691C>T (p.Gln3231Ter) rs1332428012
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022124.6(CDH23):c.995C>A (p.Thr332Lys) rs376301184
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val) rs1774342487
NM_022765.4(MICAL1):c.1021G>A (p.Ala341Thr) rs1775493179
NM_022765.4(MICAL1):c.2462T>C (p.Leu821Pro) rs755137933
NM_024298.5(MBOAT7):c.1031+17A>G rs1034934225
NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln) rs761899500
NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro) rs2076008543
NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro) rs185682596
NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala) rs1055465093
NM_024298.5(MBOAT7):c.849C>G (p.Pro283=) rs767593470
NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu) rs2076188195
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)
NM_024665.7(TBL1XR1):c.1156G>C (p.Asp386His) rs1714448807
NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn) rs1713133035
NM_024665.7(TBL1XR1):c.956ACA[1] (p.Asn320del)
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024735.5(FBXO31):c.1348G>A (p.Val450Met) rs145589459
NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu) rs1235563636
NM_024735.5(FBXO31):c.638C>A (p.Pro213His) rs1905261526
NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu) rs201527519
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg) rs747024084
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala) rs1334582239
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro) rs1700574769
NM_030624.3(KLHL15):c.1406A>G (p.Glu469Gly)
NM_030624.3(KLHL15):c.710A>T (p.Lys237Met) rs1929031015
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly) rs2032220904
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr) rs2032095988
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys) rs774532013
NM_030805.4(LMAN2L):c.424+11C>T rs2078470068
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=) rs1028008100
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val) rs2077918865
NM_031206.7(LAS1L):c.1961G>T (p.Arg654Leu) rs1556298998
NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly)
NM_031407.7(HUWE1):c.-24-2A>G rs1569511527
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)
NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys)
NM_031407.7(HUWE1):c.212C>T (p.Thr71Ile)
NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly)
NM_031407.7(HUWE1):c.286G>A (p.Val96Met)
NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn) rs771909772
NM_031844.3(HNRNPU):c.149_156del (p.Arg50fs) rs1558190846
NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu) rs1680922737
NM_032436.4(CHAMP1):c.1351C>T (p.Leu451Phe) rs2087229717
NM_032436.4(CHAMP1):c.475C>T (p.Pro159Ser) rs2087209947
NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu) rs1555379590
NM_032737.4(LMNB2):c.572A>G (p.His191Arg) rs1971851658
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg) rs868551107
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) rs201608269
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) rs750338466
NM_033343.4(LHX4):c.694A>G (p.Lys232Glu)
NM_033453.4(ITPA):c.66+3G>C rs1346504214
NM_052874.5(STX1B):c.*4C>A rs749087140
NM_052874.5(STX1B):c.*9C>G rs78690970
NM_052874.5(STX1B):c.127A>T (p.Ile43Phe)
NM_052874.5(STX1B):c.262G>T (p.Val88Phe) rs995045434
NM_052988.5(CDK10):c.1065C>A (p.Ser355Arg) rs2060691897
NM_052988.5(CDK10):c.263C>G (p.Thr88Arg) rs138561644
NM_052988.5(CDK10):c.295G>C (p.Val99Leu) rs1420247770
NM_052988.5(CDK10):c.527G>C (p.Cys176Ser) rs141041987
NM_057175.5(NAA15):c.1540-8T>G rs1748137462
NM_057175.5(NAA15):c.233A>G (p.Lys78Arg) rs1747219477
NM_057175.5(NAA15):c.896A>G (p.Asn299Ser)
NM_138459.5(NUS1):c.250C>G (p.Arg84Gly) rs750035599
NM_139058.3(ARX):c.629G>T (p.Gly210Val) rs752323898
NM_139058.3(ARX):c.771C>T (p.Arg257=) rs1601948418
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser) rs2048724116
NM_139318.5(KCNH5):c.-153A>G
NM_144969.3(ZDHHC15):c.599G>A (p.Trp200Ter) rs2083746861
NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg) rs779799210
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_152268.4(PARS2):c.340G>A (p.Gly114Ser) rs778638516
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.2353A>G (p.Met785Val)
NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val) rs761972356
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys) rs1817118329
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro) rs1563916076
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys) rs1812163324
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr) rs1813583407
NM_152617.4(RNF168):c.496A>G (p.Arg166Gly) rs760613076
NM_152641.4(ARID2):c.3694A>G (p.Thr1232Ala) rs1943556259
NM_152641.4(ARID2):c.410G>C (p.Ser137Thr) rs1459853256
NM_152641.4(ARID2):c.4125C>T (p.Asn1375=) rs1943565367
NM_152641.4(ARID2):c.7A>C (p.Asn3His) rs868029449
NM_152703.5(SAMD9L):c.2734C>G (p.Gln912Glu)
NM_152722.5(HEPACAM):c.665C>T (p.Pro222Leu) rs1947170395
NM_152722.5(HEPACAM):c.922A>G (p.Met308Val) rs1947151824
NM_152743.4(BRAT1):c.1031C>T (p.Thr344Met) rs371239207
NM_152743.4(BRAT1):c.34C>G (p.Leu12Val) rs1554298600
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys) rs1284958285
NM_153252.5(BRWD3):c.2689A>T (p.Arg897Trp) rs2072837542
NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val)
NM_153252.5(BRWD3):c.4138G>A (p.Glu1380Lys) rs2072490230
NM_153252.5(BRWD3):c.4705A>G (p.Thr1569Ala) rs2072376970
NM_153252.5(BRWD3):c.90+5G>A rs1463124196
NM_153816.6(SNX14):c.119C>T (p.Ala40Val) rs1803676386
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn) rs773557814
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) rs765192341
NM_170606.3(KMT2C):c.3917A>G (p.Asp1306Gly) rs1249758583
NM_172107.4(KCNQ2):c.1118+18C>T rs2080900462
NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp) rs2082239531
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu) rs779904079
NM_173354.5(SIK1):c.468G>A (p.Leu156=) rs2081056659
NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly) rs1476451255
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) rs750520927
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu) rs1974091514
NM_177939.3(P4HTM):c.286dup (p.Gln96fs) rs1576601503
NM_177939.3(P4HTM):c.482A>C (p.His161Pro) rs1576606484
NM_178012.5(TUBB2B):c.257G>T (p.Arg86Ile)
NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu) rs1757274660
NM_178014.4(TUBB):c.244G>C (p.Gly82Arg) rs1776397001
NM_178014.4(TUBB):c.599A>G (p.Tyr200Cys) rs1776439193
NM_178014.4(TUBB):c.801G>T (p.Met267Ile)
NM_181503.3(EXOSC8):c.628C>A (p.Pro210Thr)
NM_181672.3(OGT):c.1357C>G (p.Arg453Gly)
NM_181672.3(OGT):c.140T>G (p.Leu47Arg)
NM_181672.3(OGT):c.2429C>G (p.Thr810Ser)
NM_181672.3(OGT):c.420A>T (p.Glu140Asp) rs2040191879
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.18409G>A (p.Val6137Met) rs945540285
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln) rs376472604
NM_182961.4(SYNE1):c.9821G>A (p.Arg3274Lys) rs2097100149
NM_198503.5(KCNT2):c.976A>G (p.Arg326Gly) rs1673813088
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu) rs2093408453
NM_198880.3(QRICH1):c.887G>A (p.Ser296Asn)
NM_198904.4(GABRG2):c.632-5G>A rs1761614864
NM_198904.4(GABRG2):c.770-12G>A rs1764615198
NM_198994.3(TGM6):c.64A>G (p.Thr22Ala) rs773079291
NM_203446.3(SYNJ1):c.1646G>A (p.Arg549His) rs1363168296
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr) rs1485482944
NM_203475.3(PORCN):c.964C>G (p.Leu322Val) rs782200118
NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys) rs1698424563
NM_205768.3(ZBTB18):c.1347C>G (p.Cys449Trp) rs1698436058

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.