ClinVar Miner

List of variants reported as benign for Inborn genetic diseases

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ClinVar version:
Total variants: 2160
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HGVS dbSNP gnomAD frequency
NM_000828.4(GRIA3):c.-2G= rs58044961 1.00000
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171 0.99999
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98490
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.94915
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.94305
NM_001170629.2(CHD8):c.3477G>A (p.Val1159=) rs8022395 0.92426
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.89547
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85171
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.81521
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_001271.4(CHD2):c.2049A>G (p.Glu683=) rs4777755 0.77324
NM_001271.4(CHD2):c.2718A>G (p.Gln906=) rs11074121 0.75493
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864 0.74813
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862 0.72171
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_006013.5(RPL10):c.605= (p.Ser202=) rs4909 0.69154
NM_001127701.1(SERPINA1):c.710T= (p.Val237=) rs6647 0.68722
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66695
NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val) rs2279348 0.65917
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61804
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.61642
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.61054
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637 0.60091
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.60051
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_176787.5(PIGN):c.741C>T (p.His247=) rs9320000 0.57246
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.56541
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.56264
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.54695
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.53338
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=) rs3734441 0.52321
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.50702
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_001040616.3(LINS1):c.1899C>T (p.Asp633=) rs12460 0.49097
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.47275
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr) rs9616915 0.45833
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_016222.4(DDX41):c.1200C>T (p.Arg400=) rs335438 0.44246
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_020988.3(GNAO1):c.513C>T (p.Thr171=) rs1065375 0.42543
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289 0.42413
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_004408.4(DNM1):c.1008C>T (p.Phe336=) rs3003609 0.41986
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41714
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.41019
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40957
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40846
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.40745
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_001040616.3(LINS1):c.1128T>C (p.Ser376=) rs12592868 0.38887
NM_001040616.3(LINS1):c.1452A>T (p.Thr484=) rs2411836 0.38324
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239 0.38118
NM_001040616.3(LINS1):c.660C>T (p.Phe220=) rs8039437 0.37985
NM_001040616.3(LINS1):c.1923G>C (p.Glu641Asp) rs12157 0.37874
NM_001040616.3(LINS1):c.2040G>T (p.Arg680Ser) rs8451 0.37872
NM_001040616.3(LINS1):c.1824G>T (p.Gly608=) rs6598356 0.37869
NM_030665.4(RAI1):c.837_838del (p.Gln280fs) rs35068024 0.37587
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.37583
NM_052874.5(STX1B):c.538-7A>G rs12445568 0.37509
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.36950
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36280
NM_001040616.3(LINS1):c.85A>G (p.Ile29Val) rs11247226 0.36258
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34081
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33328
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_001040616.3(LINS1):c.1415G>C (p.Ser472Thr) rs2411837 0.32002
NM_001365999.1(SZT2):c.8626-3T>C rs2255632 0.31995
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31557
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.31135
NM_001365999.1(SZT2):c.7356A>G (p.Glu2452=) rs2027130 0.31124
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.30977
NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) rs2782643 0.30951
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.29917
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29638
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29092
NM_006766.5(KAT6A):c.3192G>A (p.Thr1064=) rs13748 0.28848
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=) rs6675421 0.28406
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=) rs12906163 0.28040
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_001493.3(GDI1):c.219T>C (p.Asn73=) rs4834 0.27677
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.27175
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25987
NM_001170629.2(CHD8):c.172G>A (p.Val58Met) rs10467770 0.25299
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.25181
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_052874.5(STX1B):c.840A>G (p.Ser280=) rs17855121 0.24748
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.24515
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24299
NM_176787.5(PIGN):c.939T>C (p.Asn313=) rs34227891 0.24195
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.23649
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_018486.3(HDAC8):c.159G>A (p.Gln53=) rs11093377 0.23458
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=) rs2272457 0.23362
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23307
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22541
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21952
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_000062.3(SERPING1):c.1438G>A (p.Val480Met) rs4926 0.21153
NM_024665.7(TBL1XR1):c.766+5A>G rs3749234 0.21092
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20531
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19324
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19109
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.18775
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18737
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18667
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.18092
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18089
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052 0.17829
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17770
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_176787.5(PIGN):c.1962G>A (p.Leu654=) rs12326381 0.17264
NM_176787.5(PIGN):c.1752G>A (p.Leu584=) rs9319997 0.17086
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.17021
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.17015
NM_176787.5(PIGN):c.1245T>C (p.Asp415=) rs13381627 0.16981
NM_176787.5(PIGN):c.2010T>C (p.Thr670=) rs17714063 0.16970
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_176787.5(PIGN):c.1377T>C (p.Ser459=) rs17714875 0.16805
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16776
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.16767
NM_004463.3(FGD1):c.2091T>C (p.Thr697=) rs12011120 0.16740
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.16279
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.15901
NM_004364.5(CEBPA):c.690G>T (p.Thr230=) rs34529039 0.15839
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NM_021912.5(GABRB3):c.75C>T (p.Pro25=) rs20318 0.14900
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_000531.6(OTC):c.299-8T>A rs73196229 0.14689
NM_004463.3(FGD1):c.2136A>G (p.Pro712=) rs1126744 0.14669
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.14475
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14187
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001987.5(ETV6):c.258G>A (p.Thr86=) rs11611479 0.13807
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.13732
NM_006265.3(RAD21):c.1440T>C (p.Ala480=) rs1050838 0.13625
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.13589
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286 0.13429
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_003070.5(SMARCA2):c.-5G>A rs10964468 0.13219
NM_001276270.2(MBD4):c.1395C>T (p.Gly465=) rs140696 0.13178
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300 0.13090
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.12614
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12179
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) rs13288443 0.12157
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11818
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11398
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11132
NM_001242896.3(DEPDC5):c.1323A>C (p.Thr441=) rs5998135 0.11019
NM_001958.5(EEF1A2):c.480G>A (p.Pro160=) rs2274860 0.10978
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=) rs1571294 0.10973
NM_004408.4(DNM1):c.312G>A (p.Glu104=) rs2229917 0.10955
NM_130811.4(SNAP25):c.330C>T (p.Asp110=) rs362998 0.10905
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965 0.10598
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_006766.5(KAT6A):c.4455C>T (p.Ser1485=) rs3739365 0.10404
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10222
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_001282531.3(ADNP):c.2568C>T (p.Val856=) rs1062651 0.10055
NM_006766.5(KAT6A):c.401T>C (p.Leu134Ser) rs3824276 0.09866
NM_006766.5(KAT6A):c.2982G>A (p.Pro994=) rs3824275 0.09852
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.09818
NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu) rs4785560 0.09807
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180 0.09465
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370 0.09426
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=) rs17790938 0.09265
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09239
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09029
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) rs10964471 0.08917
NM_018684.4(ZC4H2):c.615T>A (p.Leu205=) rs6653206 0.08913
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.08908
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08745
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08570
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08550
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08546
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08545
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08391
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=) rs6524946 0.08344
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.08263
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=) rs35048348 0.08122
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08054
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08048
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718 0.08030
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_001276270.2(MBD4):c.817G>A (p.Ala273Thr) rs10342 0.07680
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=) rs2297385 0.07323
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07185
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.06953
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.06924
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.06905
NM_003793.4(CTSF):c.722-5C>T rs78871927 0.06870
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_004484.4(GPC3):c.1500T>C (p.Asp500=) rs2314298 0.06746
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06571
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041 0.06417
NM_001330078.2(NRXN1):c.3365-109930G>T rs13413205 0.06410
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06284
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.06110
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754 0.06033
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06023
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05876
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.05833
NM_004056.6(CA8):c.334C>T (p.Leu112=) rs61743130 0.05823
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05665
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_001379110.1(SLC9A6):c.1306+8G>A rs6654310 0.05510
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05461
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05441
NM_001205019.2(GK):c.165G>A (p.Gln55=) rs34795481 0.05365
NM_004484.4(GPC3):c.1626A>G (p.Ala542=) rs61754631 0.05363
NM_173354.5(SIK1):c.1455C>T (p.Thr485=) rs28510483 0.05232
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) rs35596465 0.05170
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05125
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05124
NM_004463.3(FGD1):c.-4G>C rs147035080 0.04998
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu) rs17069506 0.04997
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04876
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04843
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro) rs60520302 0.04744
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=) rs61750222 0.04709
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_005506.4(SCARB2):c.48G>C (p.Leu16=) rs72857097 0.04562
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=) rs1042796 0.04527
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244 0.04509
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04377
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_001958.5(EEF1A2):c.207C>T (p.Arg69=) rs3818681 0.04189
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566 0.04182
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=) rs61741725 0.04130
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04090
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) rs62534884 0.03925
NM_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_001242896.3(DEPDC5):c.1472G>C (p.Ser491Thr) rs8138516 0.03859
NM_006766.5(KAT6A):c.4872C>G (p.Val1624=) rs2980901 0.03759
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049 0.03719
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001276270.2(MBD4):c.1036G>A (p.Glu346Lys) rs140693 0.03600
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03591
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03553
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_001040616.3(LINS1):c.1621A>G (p.Ile541Val) rs12915007 0.03524
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03519
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03420
NM_013275.6(ANKRD11):c.4932G>A (p.Gly1644=) rs72821356 0.03413
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=) rs6096168 0.03334
NM_001242896.3(DEPDC5):c.885A>G (p.Gln295=) rs16989495 0.03316
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.03192
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) rs1042512 0.03189
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03151
NM_001365999.1(SZT2):c.5385T>G (p.Ser1795=) rs12129487 0.03117
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546 0.03081
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp) rs34422225 0.03081
NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) rs190692435 0.03078
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03068
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388 0.03062
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.03011
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.02947
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.02937
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.02904
NM_001112741.2(KCNC1):c.72G>A (p.Ser24=) rs76929858 0.02885
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246 0.02861
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.02842
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.02836
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.02826
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=) rs61738955 0.02808
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.02794
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561 0.02754
NM_001242896.3(DEPDC5):c.1922C>T (p.Ala641Val) rs16989528 0.02752
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712 0.02748
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02703
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02590
NM_001170629.2(CHD8):c.5007A>G (p.Ala1669=) rs61752837 0.02585
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02582
NM_001242896.3(DEPDC5):c.1095T>C (p.Asp365=) rs79070552 0.02578
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02573
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_021076.4(NEFH):c.2015C>A (p.Ala672Glu) rs1331832385 0.02549
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_006766.5(KAT6A):c.4914C>T (p.Cys1638=) rs61740920 0.02504
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=) rs61744778 0.02471
NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His) rs117997391 0.02470
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_005522.5(HOXA1):c.213C>T (p.His71=) rs2074398 0.02428
NM_001242896.3(DEPDC5):c.2241C>G (p.Leu747=) rs16989537 0.02410
NM_004830.4(MED23):c.3312T>C (p.Ala1104=) rs77187818 0.02396
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200 0.02390
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952 0.02352
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02325
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile) rs2228380 0.02320
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_015107.3(PHF8):c.441T>G (p.Val147=) rs148215758 0.02301
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02295
NM_001040616.3(LINS1):c.992C>T (p.Ala331Val) rs34967129 0.02291
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865 0.02288
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535 0.02277
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02172
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_203475.3(PORCN):c.633C>T (p.Gly211=) rs35018140 0.02129
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp) rs181415619 0.02115
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_203475.3(PORCN):c.1158G>A (p.Ser386=) rs34252975 0.02109
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02067
NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=) rs61729371 0.02062
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730 0.02044
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02041
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_004364.5(CEBPA):c.573C>T (p.His191=) rs192240793 0.02000
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001365999.1(SZT2):c.6888C>T (p.Cys2296=) rs72671125 0.01988
NM_005333.5(HCCS):c.215C>T (p.Ala72Val) rs2070163 0.01957
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.01949
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.01946
NM_001242896.3(DEPDC5):c.1165C>T (p.Arg389Cys) rs41311139 0.01945
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01936
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_003042.4(SLC6A1):c.780G>A (p.Thr260=) rs33948309 0.01911
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01909
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_006565.4(CTCF):c.1164C>T (p.Ser388=) rs143837268 0.01878
NM_031407.7(HUWE1):c.1448A>G (p.Asn483Ser) rs41307640 0.01863
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01855
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01844
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01840
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01825
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_130811.4(SNAP25):c.553-4C>T rs79020892 0.01788
NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp) rs35198305 0.01770
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562 0.01760
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) rs36031537 0.01733
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01726
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=) rs61747988 0.01682
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01681
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01680
NM_006766.5(KAT6A):c.2694A>G (p.Gln898=) rs16890946 0.01679
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01673
NM_001170629.2(CHD8):c.7665T>C (p.Asp2555=) rs61748933 0.01650
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349 0.01638
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612 0.01637
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886 0.01619
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01613
NM_001372044.2(SHANK3):c.3222C>T (p.Tyr1074=) rs144470529 0.01606
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01604
NM_173354.5(SIK1):c.1554G>T (p.Ala518=) rs34487963 0.01593
NM_012280.4(FTSJ1):c.495C>T (p.Leu165=) rs34407506 0.01586
NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=) rs189297725 0.01580
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01575
NM_005660.3(SLC35A2):c.43C>A (p.Pro15Thr) rs55719932 0.01547
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01539
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=) rs61742949 0.01493
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=) rs142539117 0.01490
NM_015100.4(POGZ):c.930A>G (p.Thr310=) rs115103475 0.01490
NM_005522.5(HOXA1):c.436C>A (p.His146Asn) rs45571645 0.01487
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=) rs146575027 0.01487
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) rs61741688 0.01485
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_013275.6(ANKRD11):c.2039C>G (p.Thr680Ser) rs145694621 0.01463
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01460
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01459
NM_001170629.2(CHD8):c.6537C>T (p.Ser2179=) rs61756312 0.01457
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206 0.01438
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01433
NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg) rs114759137 0.01427
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_006593.4(TBR1):c.1134A>G (p.Thr378=) rs79294493 0.01425
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu) rs34870395 0.01415
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077 0.01412
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01388
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr) rs79274952 0.01384
NM_001242896.3(DEPDC5):c.4512C>T (p.His1504=) rs146449468 0.01383
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_004056.6(CA8):c.66A>G (p.Glu22=) rs115885226 0.01354
NM_001242896.3(DEPDC5):c.2481G>A (p.Pro827=) rs61731664 0.01344
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01339
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01325
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01324
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01323
NM_030665.4(RAI1):c.1894C>T (p.Leu632=) rs61736754 0.01318
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01315
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066 0.01308
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01298
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01269
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) rs72549428 0.01268
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01265
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264 0.01257
NM_001365999.1(SZT2):c.348C>A (p.Ile116=) rs41312024 0.01256
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01254
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01226
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01224
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01206
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01192
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=) rs34016116 0.01190
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr) rs61756301 0.01179
NM_001242896.3(DEPDC5):c.2742G>A (p.Glu914=) rs118001924 0.01176
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_001079872.2(CUL4B):c.1324+15G>A rs143921252 0.01173
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_004484.4(GPC3):c.204G>A (p.Lys68=) rs61754632 0.01163
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01162
NM_020988.3(GNAO1):c.993C>T (p.Asn331=) rs116862304 0.01146
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01139
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01135
NM_014491.4(FOXP2):c.741C>T (p.Gly247=) rs61732741 0.01128
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_014491.4(FOXP2):c.531A>G (p.Gln177=) rs111801240 0.01115
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01099
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01093
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01080
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01080
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01073
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01050
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01042
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_001754.5(RUNX1):c.927C>T (p.Gly309=) rs59802347 0.01037
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01035
NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His) rs147797700 0.01032
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) rs369603991 0.01028
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_181303.2(NLGN3):c.2250C>T (p.Ala750=) rs5981083 0.01022
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01021
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=) rs35513423 0.01020
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) rs145582574 0.01018
NM_173354.5(SIK1):c.693G>A (p.Thr231=) rs113685366 0.01016
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01014
NM_014491.4(FOXP2):c.570A>G (p.Gln190=) rs61758964 0.01012
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925 0.01009
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01003
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.00995
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=) rs115456625 0.00993
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.00988
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_031407.7(HUWE1):c.3912A>G (p.Thr1304=) rs145051649 0.00982
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00980
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00979
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00977
NM_176787.5(PIGN):c.1488A>G (p.Ala496=) rs2298784 0.00975
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.00973
NM_006766.5(KAT6A):c.3577G>A (p.Val1193Ile) rs34620183 0.00973
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=) rs73471053 0.00970
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00969
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) rs61740996 0.00962
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00959
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.00955
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.00944
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049 0.00931
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) rs191549504 0.00927
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00926
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=) rs115986561 0.00912
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00911
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00911
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00908
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) rs116691849 0.00907
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) rs35025065 0.00902
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00899
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_003042.4(SLC6A1):c.535A>G (p.Met179Val) rs34299874 0.00894
NM_003185.4(TAF4):c.401C>T (p.Ala134Val) rs1396542335 0.00892
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00891
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258 0.00858
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00852
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00850
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00846
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00834
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00833
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00831
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=) rs76621355 0.00831
NM_002024.6(FMR1):c.18G>T (p.Val6=) rs111485627 0.00830
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00826
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00825
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00820
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00819
NM_004056.6(CA8):c.299C>T (p.Ser100Leu) rs149391728 0.00815
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733 0.00809
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=) rs112703040 0.00807
NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg) rs74033733 0.00807
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108 0.00801
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00800
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001365999.1(SZT2):c.4051T>C (p.Trp1351Arg) rs72883814 0.00798
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00798
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00788
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_017721.5(CC2D1A):c.1634T>C (p.Ile545Thr) rs75601897 0.00770
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00762
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00753
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00750
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989 0.00747
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_000202.8(IDS):c.418+12T>C rs470986 0.00736
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=) rs41306894 0.00734
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00722
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_030665.4(RAI1):c.3791A>G (p.Glu1264Gly) rs61746214 0.00717
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00714
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00707
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00705
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00698
NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met) rs151073358 0.00695
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00689
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00685
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00681
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00679
NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=) rs16989536 0.00675
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00673
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00667
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00667
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=) rs145196448 0.00666
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=) rs35972647 0.00666
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252 0.00664
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014 0.00660
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00658
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00648
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00640
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358 0.00639
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_001382347.1(MYO5A):c.5409+4G>A rs72734962 0.00636
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584 0.00635
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00634
NM_030665.4(RAI1):c.1044C>T (p.Arg348=) rs142316059 0.00634
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=) rs144316388 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_007327.4(GRIN1):c.1548G>A (p.Pro516=) rs75783429 0.00624
NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu) rs75160167 0.00623
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386 0.00619
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=) rs181024112 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_181332.3(NLGN4X):c.2271G>A (p.Pro757=) rs4999056 0.00609
NM_001170629.2(CHD8):c.2373G>A (p.Pro791=) rs61752838 0.00607
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) rs114056442 0.00599
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) rs41431245 0.00591
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_031407.7(HUWE1):c.8495-20T>C rs181550223 0.00576
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=) rs114337467 0.00573
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026 0.00567
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00559
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00559
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) rs78300927 0.00553
NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=) rs34566148 0.00553
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00551
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_015100.4(POGZ):c.357A>G (p.Thr119=) rs145173739 0.00547
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00547
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00543
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00542
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) rs5952410 0.00538
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys) rs149842031 0.00537
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_030665.4(RAI1):c.837G>A (p.Gln279=) rs11078398 0.00533
NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser) rs61744458 0.00532
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) rs142085721 0.00531
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00530
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596 0.00524
NM_001493.3(GDI1):c.154-3C>T rs113696246 0.00524
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00523
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) rs61734180 0.00519
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00518
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_006766.5(KAT6A):c.2487A>G (p.Val829=) rs10104089 0.00516
NM_031407.7(HUWE1):c.9360A>G (p.Ala3120=) rs2281481 0.00515
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00513
NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=) rs140788949 0.00511
NM_002087.4(GRN):c.42G>A (p.Leu14=) rs111435385 0.00511
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955 0.00510
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00504
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_002578.5(PAK3):c.276+2659T>C rs142890115 0.00497
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00496
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00495
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00495
NM_001372044.2(SHANK3):c.5172C>T (p.Pro1724=) rs557669600 0.00492
NM_030665.4(RAI1):c.2907C>T (p.Asp969=) rs141757356 0.00492
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_003042.4(SLC6A1):c.138G>A (p.Thr46=) rs183069336 0.00490
NM_003070.5(SMARCA2):c.3843C>T (p.Pro1281=) rs61736902 0.00490
NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=) rs79499872 0.00490
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00480
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951 0.00474
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684 0.00473
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00473
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_001356.5(DDX3X):c.1938T>C (p.Asp646=) rs147736247 0.00471
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_170665.4(ATP2A2):c.464-70C>A rs183641769 0.00468
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00462
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00460
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=) rs115107511 0.00453
NM_032108.4(SEMA6B):c.2342G>T (p.Arg781Leu) rs189240925 0.00453
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001372044.2(SHANK3):c.1299G>A (p.Leu433=) rs193191459 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) rs73640833 0.00445
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00445
NM_001276270.2(MBD4):c.1590G>A (p.Gly530=) rs2005619 0.00443
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) rs116536134 0.00441
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00438
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00434
NM_004408.4(DNM1):c.357T>C (p.Pro119=) rs77325628 0.00432
NM_018026.4(PACS1):c.858A>C (p.Ser286=) rs114730283 0.00432
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00431
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_001367721.1(CASK):c.1125C>T (p.Phe375=) rs141790702 0.00424
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060 0.00424
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
NM_030665.4(RAI1):c.1326G>A (p.Val442=) rs148308622 0.00423
NM_001372044.2(SHANK3):c.1470C>T (p.Ala490=) rs116756129 0.00421
NM_001372044.2(SHANK3):c.3372C>T (p.Pro1124=) rs200572899 0.00421
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915 0.00419
NM_020822.3(KCNT1):c.30G>A (p.Pro10=) rs139034501 0.00419
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00413
NM_001170629.2(CHD8):c.5121T>C (p.Asp1707=) rs61729945 0.00413
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_001372044.2(SHANK3):c.885C>G (p.Leu295=) rs187348640 0.00405
NM_001372044.2(SHANK3):c.1191-5C>T rs146144920 0.00404
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00393
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00391
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=) rs143580749 0.00390
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=) rs142049079 0.00390
NM_153252.5(BRWD3):c.2729G>C (p.Gly910Ala) rs150004766 0.00389
NM_001242896.3(DEPDC5):c.2856T>C (p.Cys952=) rs115299174 0.00386
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552 0.00386
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser) rs11797456 0.00385
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_000381.4(MID1):c.861G>A (p.Gly287=) rs147909430 0.00381
NM_018026.4(PACS1):c.1969A>C (p.Met657Leu) rs115947278 0.00381
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_001163809.2(WDR81):c.4843G>A (p.Gly1615Arg) rs143688446 0.00380
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00380
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279 0.00377
NM_000193.4(SHH):c.897G>C (p.Leu299=) rs9333635 0.00376
NM_000381.4(MID1):c.498G>A (p.Pro166=) rs7391874 0.00376
NM_030665.4(RAI1):c.1827C>T (p.Ser609=) rs78165774 0.00376
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=) rs200077311 0.00375
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00375
NM_030665.4(RAI1):c.138C>T (p.Leu46=) rs115379597 0.00374
NM_004463.3(FGD1):c.110C>T (p.Ala37Val) rs75659311 0.00373
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00372
NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val) rs200056646 0.00371
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00370
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00367
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00366
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00363
NM_020988.3(GNAO1):c.921A>G (p.Gln307=) rs148650019 0.00359
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00358
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543 0.00356
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00355
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=) rs61736703 0.00353
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile) rs2303708 0.00351
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_176787.5(PIGN):c.309T>C (p.Ala103=) rs17069511 0.00346
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00341
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155 0.00339
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00339
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00338
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr) rs34342624 0.00337
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00337
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00335
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00332
NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=) rs34984796 0.00332
NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=) rs73892912 0.00331
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00329
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409 0.00329
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00327
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402 0.00317
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_033026.6(PCLO):c.1369G>A (p.Gly457Arg) rs144574814 0.00311
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00310
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=) rs141783755 0.00309
NM_032638.5(GATA2):c.748C>G (p.Pro250Ala) rs78245253 0.00309
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00308
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00307
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=) rs150010654 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00307
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00306
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00305
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00302
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00301
NM_001170629.2(CHD8):c.145A>G (p.Met49Val) rs181830482 0.00300
NM_001170629.2(CHD8):c.6571T>C (p.Leu2191=) rs61741241 0.00297
NM_016604.4(KDM3B):c.1848G>T (p.Glu616Asp) rs34608821 0.00294
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_004541.4(NDUFA1):c.-4A>G rs201240353 0.00279
NM_007118.4(TRIO):c.8831A>G (p.Asn2944Ser) rs143213427 0.00279
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00278
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00275
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958 0.00270
NM_018026.4(PACS1):c.2376C>T (p.Ala792=) rs145601427 0.00270
NM_005215.4(DCC):c.1457A>T (p.Gln486Leu) rs116498325 0.00266
NM_015107.3(PHF8):c.606C>T (p.Asn202=) rs77581173 0.00266
NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile) rs139953376 0.00265
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00263
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00261
NM_012280.4(FTSJ1):c.270G>T (p.Gly90=) rs138008946 0.00260
NM_032638.5(GATA2):c.-5C>G rs374415484 0.00260
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_017721.5(CC2D1A):c.2430C>G (p.Asp810Glu) rs199683318 0.00259
NM_000381.4(MID1):c.1242C>T (p.Tyr414=) rs142718564 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00255
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00254
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) rs200810453 0.00249
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_001356.5(DDX3X):c.234A>T (p.Ser78=) rs143627607 0.00240
NM_012123.4(MTO1):c.1051A>G (p.Met351Val) rs144075994 0.00240
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00236
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00234
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00233
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795 0.00231
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00231
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00229
NM_170606.3(KMT2C):c.6275A>T (p.Asp2092Val) rs140719911 0.00229
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00225
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00225
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00225
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00224
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00222
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00222
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_001958.5(EEF1A2):c.237G>A (p.Lys79=) rs61737389 0.00219
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946 0.00211
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_003922.4(HERC1):c.9493G>T (p.Ala3165Ser) rs80032429 0.00210
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln) rs58524323 0.00207
NM_001365999.1(SZT2):c.9782G>A (p.Arg3261Gln) rs190363418 0.00207
NM_001197104.2(KMT2A):c.6698C>T (p.Thr2233Ile) rs144271443 0.00206
NM_001291303.3(FAT4):c.7787T>C (p.Leu2596Ser) rs111501860 0.00205
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_000381.4(MID1):c.75C>T (p.Cys25=) rs140708189 0.00202
NM_001958.5(EEF1A2):c.1335C>T (p.Ser445=) rs372257864 0.00202
NM_012280.4(FTSJ1):c.304A>T (p.Ile102Phe) rs75296308 0.00201
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00201
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00199
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00198
NM_001372044.2(SHANK3):c.3238C>G (p.Pro1080Ala) rs563455211 0.00198
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) rs201955244 0.00198
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00196
NM_173354.5(SIK1):c.859_861del (p.Pro287del) rs374476526 0.00195
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00191
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_015100.4(POGZ):c.860-5C>T rs144435581 0.00190
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498 0.00190
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr) rs147575358 0.00189
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167 0.00188
NM_006772.3(SYNGAP1):c.1803G>A (p.Ala601=) rs77934848 0.00188
NM_015001.3(SPEN):c.10391G>C (p.Gly3464Ala) rs41269153 0.00188
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00188
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775 0.00186
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) rs149526010 0.00186
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His) rs111515657 0.00182
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser) rs374668457 0.00181
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619 0.00180
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627 0.00180
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00179
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_004408.4(DNM1):c.1764C>T (p.Leu588=) rs111534551 0.00178
NM_012280.4(FTSJ1):c.654C>T (p.Tyr218=) rs141084617 0.00178
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368 0.00177
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00176
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00173
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) rs112011493 0.00172
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00166
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00165
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_020680.4(SCYL1):c.1933G>A (p.Asp645Asn) rs200518123 0.00163
NM_001276270.2(MBD4):c.181T>C (p.Cys61Arg) rs2307296 0.00161
NM_005522.5(HOXA1):c.684A>G (p.Gln228=) rs34462126 0.00160
NM_018489.3(ASH1L):c.4793C>T (p.Ala1598Val) rs72993485 0.00160
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00160
NM_015001.3(SPEN):c.6067G>A (p.Val2023Met) rs115691599 0.00157
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00157
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294 0.00156
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982 0.00153
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00153
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00152
NM_006593.4(TBR1):c.54C>G (p.Leu18=) rs143667380 0.00152
NM_001379110.1(SLC9A6):c.*5_*6del rs781795776 0.00149
NM_021120.4(DLG3):c.1781C>T (p.Pro594Leu) rs144335681 0.00149
NM_012280.4(FTSJ1):c.409C>T (p.Leu137=) rs34981721 0.00148
NM_030665.4(RAI1):c.1500G>A (p.Pro500=) rs115536854 0.00148
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202 0.00143
NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile) rs146834697 0.00143
NM_015107.3(PHF8):c.219T>A (p.Asp73Glu) rs148664730 0.00141
NM_000381.4(MID1):c.1266C>T (p.Thr422=) rs148477118 0.00140
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_003042.4(SLC6A1):c.1647C>T (p.Pro549=) rs2272401 0.00138
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val) rs61744864 0.00132
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00131
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550 0.00131
NM_001365999.1(SZT2):c.7512-3C>T rs117106532 0.00131
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr) rs137922929 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_003042.4(SLC6A1):c.411C>T (p.Asn137=) rs148429200 0.00127
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00127
NM_016222.4(DDX41):c.139-4T>G rs192297583 0.00127
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met) rs140998225 0.00126
NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln) rs149307240 0.00125
NM_021120.4(DLG3):c.409-4G>T rs188475429 0.00125
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00124
NM_017721.5(CC2D1A):c.1611G>A (p.Ser537=) rs76113658 0.00124
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_021120.4(DLG3):c.429C>T (p.Phe143=) rs144225009 0.00123
NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr) rs929861388 0.00122
NM_006517.3(SLC16A2):c.1A>T (p.Met1Leu) rs201853949 0.00122
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_018684.4(ZC4H2):c.592C>A (p.Arg198=) rs137962226 0.00120
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00119
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) rs144641429 0.00118
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=) rs56069517 0.00116
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00115
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00113
NM_015459.5(ATL3):c.373G>A (p.Val125Ile) rs200918566 0.00113
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) rs2275098 0.00112
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00112
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187 0.00109
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00107
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00103
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00102
NM_004595.5(SMS):c.561A>G (p.Glu187=) rs138516691 0.00102
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340 0.00102
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00101
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00100
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=) rs150848826 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001271.4(CHD2):c.855G>A (p.Ala285=) rs138796857 0.00099
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00098
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00098
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00097
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) rs149404438 0.00096
NM_001291867.2(NHS):c.828G>A (p.Glu276=) rs147497359 0.00096
NM_001378964.1(CDON):c.2462G>A (p.Arg821His) rs146660717 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00095
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00094
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) rs139027171 0.00093
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00093
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00092
NM_001349253.2(SCN11A):c.5280T>A (p.Asn1760Lys) rs141241382 0.00092
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_001003694.2(BRPF1):c.3069-4A>T rs199603306 0.00091
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384 0.00091
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_022089.4(ATP13A2):c.841-4A>G rs112549590 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys) rs41306749 0.00089
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00088
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274 0.00088
NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=) rs144080925 0.00088
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00088
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00088
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001291867.2(NHS):c.765C>G (p.Pro255=) rs143119491 0.00086
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu) rs200351209 0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00082
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299 0.00082
NM_000193.4(SHH):c.1181G>A (p.Arg394His) rs551809680 0.00081
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00081
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00080
NM_015001.3(SPEN):c.9619A>T (p.Ser3207Cys) rs150045730 0.00080
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) rs146425236 0.00079
NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser) rs140744818 0.00078
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00078
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=) rs150358853 0.00077
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00076
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=) rs144721281 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00075
NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=) rs201856289 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_031407.7(HUWE1):c.12582C>G (p.Ala4194=) rs138323283 0.00074
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu) rs143697110 0.00072
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00072
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107 0.00072
NM_001372044.2(SHANK3):c.4671G>A (p.Gly1557=) rs191010623 0.00072
NM_030665.4(RAI1):c.301G>A (p.Gly101Ser) rs145801481 0.00072
NM_000144.5(FXN):c.468A>G (p.Leu156=) rs543209710 0.00071
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val) rs141251585 0.00071
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) rs148201608 0.00070
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00069
NM_005660.3(SLC35A2):c.990C>T (p.Leu330=) rs146079657 0.00069
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_006766.5(KAT6A):c.1029G>T (p.Lys343Asn) rs35529154 0.00068
NM_052874.5(STX1B):c.538-5C>G rs145815305 0.00068
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln) rs140904281 0.00067
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00067
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00067
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00067
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00066
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 0.00065
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) rs61757566 0.00065
NM_004595.5(SMS):c.843A>G (p.Pro281=) rs144489522 0.00065
NM_021076.4(NEFH):c.2141A>C (p.Glu714Ala) rs139600064 0.00065
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_004484.4(GPC3):c.995A>G (p.Gln332Arg) rs78696048 0.00064
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_181303.2(NLGN3):c.807C>T (p.Ser269=) rs151276700 0.00064
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00063
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) rs546044640 0.00063
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_001987.5(ETV6):c.380G>A (p.Arg127Gln) rs140357643 0.00063
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00063
NM_004830.4(MED23):c.3819G>A (p.Ala1273=) rs150070422 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_001349338.3(FOXP1):c.1825G>A (p.Ala609Thr) rs147537388 0.00062
NM_001374828.1(ARID1B):c.1771C>T (p.Pro591Ser) rs200682868 0.00062
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208 0.00060
NM_001013839.4(EXOC7):c.977G>C (p.Ser326Thr) rs150560245 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_003070.5(SMARCA2):c.231C>T (p.Ile77=) rs148086416 0.00060
NM_014738.6(TMEM94):c.253G>A (p.Gly85Arg) rs141282100 0.00060
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00060
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00059
NM_001211.6(BUB1B):c.180-3C>T rs200483866 0.00059
NM_001349338.3(FOXP1):c.1890-5T>C rs187666567 0.00059
NM_031407.7(HUWE1):c.9213T>C (p.Arg3071=) rs112038748 0.00059
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val) rs150687712 0.00058
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) rs151212782 0.00058
NM_005522.5(HOXA1):c.207C>T (p.His69=) rs577426612 0.00058
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_007118.4(TRIO):c.1217A>G (p.Asn406Ser) rs138722140 0.00057
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_031407.7(HUWE1):c.9432C>G (p.Arg3144=) rs76351631 0.00057
NM_030632.3(ASXL3):c.2537A>G (p.Lys846Arg) rs61729759 0.00056
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848 0.00055
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) rs145882968 0.00055
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692 0.00054
NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser) rs150966402 0.00054
NM_001367721.1(CASK):c.2442G>A (p.Ala814=) rs141158465 0.00054
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=) rs150519659 0.00054
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_031407.7(HUWE1):c.1242+4C>T rs377286362 0.00054
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=) rs117872964 0.00053
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00052
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00052
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00051
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596 0.00051
NM_173354.5(SIK1):c.966G>A (p.Thr322=) rs148266853 0.00051
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_001282531.3(ADNP):c.909G>A (p.Met303Ile) rs141172488 0.00050
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu) rs202034147 0.00050
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) rs375100066 0.00050
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350 0.00049
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00049
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00048
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00048
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138 0.00048
NM_006517.5(SLC16A2):c.538G>A (p.Val180Ile) rs759933264 0.00048
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00048
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00047
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_015107.3(PHF8):c.2205G>A (p.Ser735=) rs144282765 0.00047
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713 0.00047
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln) rs199801767 0.00047
NM_181882.3(PRX):c.1651G>A (p.Val551Met) rs61733448 0.00047
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=) rs565990502 0.00046
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_001271.4(CHD2):c.2728-3C>T rs2272460 0.00046
NM_001374828.1(ARID1B):c.2815G>A (p.Gly939Ser) rs145635490 0.00046
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522 0.00046
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103 0.00046
NM_001958.5(EEF1A2):c.375G>A (p.Ala125=) rs2274861 0.00046
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_173495.3(PTCHD1):c.1473C>T (p.Tyr491=) rs138439272 0.00046
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=) rs146777271 0.00046
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_001160372.4(TRAPPC9):c.2871G>A (p.Lys957=) rs188700138 0.00045
NM_004463.3(FGD1):c.2729G>A (p.Arg910Gln) rs771786145 0.00045
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_145239.3(PRRT2):c.828C>T (p.Cys276=) rs35625748 0.00043
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581 0.00043
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00042
NM_031407.7(HUWE1):c.2784A>G (p.Gln928=) rs148400203 0.00042
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001170629.2(CHD8):c.7472T>C (p.Met2491Thr) rs551653039 0.00041
NM_001271.4(CHD2):c.1810-3T>C rs189339982 0.00041
NM_007325.5(GRIA3):c.2097C>T (p.Tyr699=) rs184185835 0.00041
NM_015114.3(ANKLE2):c.2539G>A (p.Val847Ile) rs185739493 0.00041
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168 0.00040
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00040
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718 0.00040
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00040
NM_005522.5(HOXA1):c.194A>C (p.His65Pro) rs146782650 0.00040
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885 0.00040
NM_018486.3(HDAC8):c.351G>T (p.Gly117=) rs199969298 0.00040
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00040
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_001042475.3(CEP85L):c.20C>T (p.Ala7Val) rs187158499 0.00038
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00038
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_015466.4(PTPN23):c.4360G>A (p.Glu1454Lys) rs199529980 0.00038
NM_016729.3(FOLR1):c.396G>A (p.Val132=) rs35179028 0.00038
NM_021072.4(HCN1):c.1710C>T (p.Asn570=) rs141455774 0.00038
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00037
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00037
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00037
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00037
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00037
NM_001987.5(ETV6):c.496G>A (p.Val166Met) rs142603082 0.00037
NM_031466.8(TRAPPC9):c.-135A>G rs148523016 0.00037
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_020822.3(KCNT1):c.-1C>A rs149383208 0.00036
NM_021956.5(GRIK2):c.1318-4T>C rs371781809 0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) rs149482288 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_004463.3(FGD1):c.2043C>T (p.Val681=) rs144902747 0.00035
NM_004463.3(FGD1):c.234C>T (p.Pro78=) rs140165404 0.00035
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00035
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891 0.00034
NM_001195553.2(DCX):c.666C>T (p.Thr222=) rs143501582 0.00034
NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892 0.00034
NM_001555.5(IGSF1):c.1526-3C>T rs192818408 0.00034
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744 0.00034
NM_013275.6(ANKRD11):c.5766C>T (p.Ala1922=) rs373393326 0.00034
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00034
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607 0.00033
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00033
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) rs188900504 0.00033
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059 0.00033
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199 0.00033
NM_012280.4(FTSJ1):c.893G>A (p.Ser298Asn) rs142932029 0.00033
NM_017679.5(BCAS3):c.2738C>T (p.Pro913Leu) rs200314899 0.00033
NM_031407.7(HUWE1):c.12672G>A (p.Ala4224=) rs367851321 0.00033
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val) rs147324438 0.00033
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) rs149495971 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_004484.4(GPC3):c.1254C>T (p.Asn418=) rs150766741 0.00032
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp) rs138435584 0.00032
NM_020719.3(PRR12):c.4891-3T>C rs376242751 0.00032
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00031
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) rs201649896 0.00030
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00030
NM_203475.3(PORCN):c.930T>G (p.Ser310=) rs186892397 0.00030
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001172509.2(SATB2):c.1257G>A (p.Gln419=) rs367947535 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_021076.4(NEFH):c.269C>T (p.Ala90Val) rs61556467 0.00029
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) rs138558359 0.00028
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_001291867.2(NHS):c.1603G>A (p.Val535Met) rs367856134 0.00028
NM_181332.3(NLGN4X):c.1133A>G (p.Lys378Arg) rs144093574 0.00028
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641 0.00027
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=) rs745981005 0.00027
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651 0.00027
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu) rs142732858 0.00027
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001330574.2(ZNF711):c.1246+20A>G rs373050303 0.00027
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_001374828.1(ARID1B):c.4809C>T (p.Gly1603=) rs139903653 0.00026
NM_001374828.1(ARID1B):c.501C>G (p.His167Gln) rs372726215 0.00026
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_013275.6(ANKRD11):c.6375C>T (p.Ala2125=) rs75629150 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_021120.4(DLG3):c.2076C>T (p.Ile692=) rs535820581 0.00026
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560 0.00025
NM_031407.7(HUWE1):c.11403G>A (p.Ala3801=) rs373456806 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_181303.2(NLGN3):c.2370C>T (p.Pro790=) rs372131545 0.00025
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186 0.00024
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) rs138886952 0.00024
NM_004484.4(GPC3):c.876T>C (p.Ile292=) rs61754633 0.00024
NM_013275.6(ANKRD11):c.3437C>T (p.Thr1146Met) rs150325340 0.00024
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00023
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071 0.00023
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00023
NM_002641.4(PIGA):c.273C>T (p.Tyr91=) rs61730284 0.00023
NM_016222.4(DDX41):c.97T>C (p.Tyr33His) rs150205465 0.00023
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg) rs1800466 0.00022
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744 0.00022
NM_001493.3(GDI1):c.1167C>T (p.Pro389=) rs140855833 0.00022
NM_018684.4(ZC4H2):c.654G>A (p.Pro218=) rs149235340 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585 0.00022
NM_173354.5(SIK1):c.1463-3C>T rs372615326 0.00022
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887 0.00021
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) rs143103435 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00021
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met) rs770993927 0.00021
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_138927.4(SON):c.3908C>T (p.Pro1303Leu) rs187335496 0.00021
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000304.4(PMP22):c.268C>G (p.Leu90Val) rs147114400 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=) rs142777123 0.00020
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316 0.00020
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe) rs374462247 0.00020
NM_001347721.2(DYRK1A):c.627A>G (p.Lys209=) rs1130754 0.00020
NM_001353921.2(ARHGEF9):c.946-4C>A rs56398019 0.00020
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) rs139731261 0.00020
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00020
NM_031407.7(HUWE1):c.12330C>T (p.Val4110=) rs375367345 0.00020
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403 0.00019
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00019
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001278116.2(L1CAM):c.3549C>T (p.Asn1183=) rs200916591 0.00019
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) rs148418212 0.00019
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00019
NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser) rs199985543 0.00019
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg) rs143800457 0.00019
NM_004595.5(SMS):c.171C>T (p.Ser57=) rs201558273 0.00019
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln) rs140780968 0.00019
NM_013275.6(ANKRD11):c.280G>C (p.Ala94Pro) rs190143218 0.00019
NM_021072.4(HCN1):c.159C>G (p.His53Gln) rs10066808 0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_173354.5(SIK1):c.4G>A (p.Val2Ile) rs376640139 0.00019
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_001371279.1(REEP1):c.519G>A (p.Pro173=) rs376647453 0.00018
NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg) rs775385239 0.00018
NM_001987.5(ETV6):c.119C>T (p.Ala40Val) rs576945965 0.00018
NM_173354.5(SIK1):c.1926C>T (p.Ala642=) rs761311570 0.00018
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00017
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00017
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_001282531.3(ADNP):c.2149C>T (p.Arg717Cys) rs186178058 0.00017
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322 0.00017
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00017
NM_004463.3(FGD1):c.27C>T (p.Gly9=) rs377441190 0.00017
NM_018026.4(PACS1):c.2178C>T (p.Ala726=) rs138700761 0.00017
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00017
NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=) rs191407530 0.00017
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000292.3(PHKA2):c.2954A>T (p.His985Leu) rs368331679 0.00016
NM_000834.5(GRIN2B):c.1704C>T (p.Ile568=) rs202102041 0.00016
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00016
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) rs201263814 0.00016
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00015
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00015
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln) rs200351280 0.00015
NM_002024.6(FMR1):c.818A>G (p.Lys273Arg) rs139029212 0.00015
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00015
NM_006772.3(SYNGAP1):c.1884G>A (p.Lys628=) rs140022772 0.00015
NM_015100.4(POGZ):c.162C>T (p.Pro54=) rs374145381 0.00015
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00015
NM_022455.5(NSD1):c.3221G>A (p.Arg1074His) rs766901249 0.00015
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) rs375195855 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001347721.2(DYRK1A):c.1649G>A (p.Arg550His) rs144190333 0.00014
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004463.3(FGD1):c.501C>T (p.Tyr167=) rs781319873 0.00014
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys) rs181712540 0.00014
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=) rs572507342 0.00014
NM_015107.3(PHF8):c.612G>A (p.Val204=) rs137998994 0.00014
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg) rs200955853 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_031407.7(HUWE1):c.8548A>T (p.Ser2850Cys) rs376473006 0.00014
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) rs199740131 0.00014
NM_152424.4(AMER1):c.2157G>A (p.Met719Ile) rs142355260 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_176787.5(PIGN):c.213G>A (p.Pro71=) rs370553142 0.00014
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) rs781932570 0.00013
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=) rs137967792 0.00013
NM_001353345.2(SETD1B):c.33C>G (p.His11Gln) rs571737223 0.00013
NM_001356.5(DDX3X):c.1770-3T>C rs200637678 0.00013
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00013
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961 0.00013
NM_003179.3(SYP):c.312C>T (p.Ala104=) rs185819998 0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu) rs149016283 0.00013
NM_005862.3(STAG1):c.1126-6T>C rs191636777 0.00013
NM_020988.3(GNAO1):c.660G>A (p.Thr220=) rs189380751 0.00013
NM_021120.4(DLG3):c.2295G>A (p.Lys765=) rs200152610 0.00013
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) rs181034787 0.00013
NM_176787.5(PIGN):c.1102C>T (p.Leu368Phe) rs142508030 0.00013
NM_181303.2(NLGN3):c.2040C>T (p.Asn680=) rs6624535 0.00013
NM_181332.3(NLGN4X):c.2049G>A (p.Ala683=) rs772348674 0.00013
NM_000381.4(MID1):c.1968C>T (p.Ile656=) rs754871464 0.00012
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NM_001291867.2(NHS):c.2119G>T (p.Ala707Ser) rs184275083 0.00012
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn) rs780522040 0.00012
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00012
NM_153252.5(BRWD3):c.14C>G (p.Pro5Arg) rs773723606 0.00012
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892 0.00011
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00011
NM_001349253.2(SCN11A):c.1223A>G (p.Lys408Arg) rs149399418 0.00011
NM_006265.3(RAD21):c.468A>G (p.Gln156=) rs530697556 0.00011
NM_006372.5(SYNCRIP):c.1811A>G (p.Tyr604Cys) rs200313499 0.00011
NM_006772.3(SYNGAP1):c.1575G>A (p.Glu525=) rs139050190 0.00011
NM_013275.6(ANKRD11):c.6484C>T (p.Pro2162Ser) rs202219869 0.00011
NM_015001.3(SPEN):c.799A>G (p.Arg267Gly) rs199736178 0.00011
NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=) rs781056597 0.00011
NM_173354.5(SIK1):c.1488G>A (p.Thr496=) rs753580147 0.00011
NM_000744.7(CHRNA4):c.1228G>A (p.Val410Ile) rs121912272 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001356.5(DDX3X):c.1497+5G>A rs201687537 0.00010
NM_006013.5(RPL10):c.633C>T (p.Ala211=) rs371964689 0.00010
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) rs562407134 0.00010
NM_014795.4(ZEB2):c.2762G>A (p.Arg921Gln) rs147716561 0.00010
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00010
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341 0.00010
NM_000156.6(GAMT):c.242C>T (p.Ala81Val) rs751099274 0.00009
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613 0.00009
NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser) rs529607288 0.00009
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His) rs373183625 0.00009
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) rs16045 0.00009
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728 0.00009
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00009
NM_001356.5(DDX3X):c.152-5C>G rs139960681 0.00009
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550 0.00009
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194 0.00009
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977 0.00009
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=) rs201232457 0.00009
NM_004208.4(AIFM1):c.1609G>A (p.Glu537Lys) rs761765345 0.00009
NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro) rs756632245 0.00009
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile) rs771062230 0.00009
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=) rs766164918 0.00009
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006517.5(SLC16A2):c.23G>A (p.Ser8Asn) rs746783950 0.00009
NM_013275.6(ANKRD11):c.6489A>G (p.Pro2163=) rs201020132 0.00009
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00009
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589 0.00009
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_024757.5(EHMT1):c.631G>A (p.Val211Ile) rs201528122 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_031407.7(HUWE1):c.5586C>T (p.Leu1862=) rs142982950 0.00009
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp) rs376877146 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00008
NM_001040616.3(LINS1):c.418T>A (p.Ser140Thr) rs200152794 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001754.5(RUNX1):c.1190A>G (p.Gln397Arg) rs762292084 0.00008
NM_001754.5(RUNX1):c.1415T>C (p.Leu472Pro) rs764689239 0.00008
NM_015100.4(POGZ):c.2451C>T (p.Cys817=) rs778929923 0.00008
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=) rs200241618 0.00008
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964 0.00007
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283 0.00007
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=) rs762358113 0.00007
NM_001330260.2(SCN8A):c.855C>T (p.Pro285=) rs200784857 0.00007
NM_001374828.1(ARID1B):c.1841T>C (p.Met614Thr) rs141260832 0.00007
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=) rs202008601 0.00007
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423 0.00007
NM_001987.5(ETV6):c.872G>A (p.Arg291Lys) rs72550787 0.00007
NM_003042.4(SLC6A1):c.1663A>G (p.Met555Val) rs139846326 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066 0.00006
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=) rs780514937 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001374828.1(ARID1B):c.5262C>T (p.Ile1754=) rs550054527 0.00006
NM_003070.5(SMARCA2):c.4200-5C>T rs375293068 0.00006
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val) rs372931505 0.00006
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg) rs201061067 0.00006
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) rs146209687 0.00006
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val) rs145754397 0.00006
NM_015100.4(POGZ):c.3598A>G (p.Ser1200Gly) rs757736540 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806 0.00006
NM_030665.4(RAI1):c.284C>T (p.Pro95Leu) rs370882080 0.00006
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr) rs779651867 0.00006
NM_031407.7(HUWE1):c.5952T>C (p.Gly1984=) rs782202317 0.00006
NM_031407.7(HUWE1):c.5987G>A (p.Arg1996His) rs200650762 0.00006
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser) rs368147403 0.00005
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415 0.00005
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001170629.2(CHD8):c.2318G>A (p.Arg773Gln) rs763874660 0.00005
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256 0.00005
NM_001347721.2(DYRK1A):c.1735A>C (p.Thr579Pro) rs149948846 0.00005
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly) rs143498500 0.00005
NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln) rs200643313 0.00005
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu) rs149394378 0.00005
NM_004408.4(DNM1):c.84C>T (p.Asp28=) rs577437504 0.00005
NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587 0.00005
NM_006766.5(KAT6A):c.5791A>G (p.Met1931Val) rs145180409 0.00005
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser) rs141341400 0.00005
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 0.00005
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00005
NM_017780.4(CHD7):c.8568C>T (p.Asp2856=) rs539868738 0.00005
NM_021120.4(DLG3):c.662C>T (p.Pro221Leu) rs758870192 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val) rs753533374 0.00005
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00005
NM_030665.4(RAI1):c.131G>A (p.Arg44Gln) rs149701833 0.00005
NM_030665.4(RAI1):c.586G>A (p.Asp196Asn) rs775499267 0.00005
NM_030665.4(RAI1):c.96G>A (p.Gln32=) rs763628165 0.00005
NM_031407.7(HUWE1):c.9852C>T (p.Ser3284=) rs782359117 0.00005
NM_198904.4(GABRG2):c.52G>C (p.Val18Leu) rs141106898 0.00005
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp) rs188175511 0.00004
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His) rs185383468 0.00004
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala) rs374027926 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00004
NM_001330574.2(ZNF711):c.336C>G (p.Ile112Met) rs541690559 0.00004
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser) rs141461351 0.00004
NM_001374828.1(ARID1B):c.6372G>A (p.Glu2124=) rs755185300 0.00004
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252 0.00004
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_006013.5(RPL10):c.629G>A (p.Arg210Gln) rs781973415 0.00004
NM_013275.6(ANKRD11):c.6781G>A (p.Glu2261Lys) rs770262960 0.00004
NM_021072.4(HCN1):c.1146G>A (p.Gly382=) rs751832265 0.00004
NM_030665.4(RAI1):c.2199C>T (p.Thr733=) rs373517492 0.00004
NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala) rs202115297 0.00004
NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala) rs199765762 0.00004
NM_152564.5(VPS13B):c.2209-4T>G rs201309214 0.00004
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr) rs782562675 0.00003
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 0.00003
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=) rs558449802 0.00003
NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=) rs373628160 0.00003
NM_001170629.2(CHD8):c.4286G>A (p.Arg1429Gln) rs184431500 0.00003
NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=) rs374037144 0.00003
NM_001271.4(CHD2):c.294+5C>T rs777934535 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001374828.1(ARID1B):c.4875C>T (p.Pro1625=) rs748119553 0.00003
NM_001376.5(DYNC1H1):c.11361G>A (p.Thr3787=) rs145320071 0.00003
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln) rs140013253 0.00003
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619 0.00003
NM_001376.5(DYNC1H1):c.4722G>A (p.Glu1574=) rs754521119 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu) rs375158010 0.00003
NM_001754.5(RUNX1):c.994G>A (p.Asp332Asn) rs757030094 0.00003
NM_002641.4(PIGA):c.92G>A (p.Arg31His) rs758863767 0.00003
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048 0.00003
NM_006766.5(KAT6A):c.2627A>C (p.Gln876Pro) rs537857698 0.00003
NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn) rs552867155 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695 0.00003
NM_021072.4(HCN1):c.261C>G (p.Pro87=) rs199612501 0.00003
NM_022489.4(INF2):c.2310C>T (p.Tyr770=) rs758454108 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024757.5(EHMT1):c.2427G>A (p.Pro809=) rs370924392 0.00003
NM_024757.5(EHMT1):c.2661C>T (p.Asp887=) rs139459283 0.00003
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=) rs374547003 0.00003
NM_024757.5(EHMT1):c.325G>A (p.Val109Ile) rs199703555 0.00003
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00003
NM_030665.4(RAI1):c.1138G>A (p.Gly380Arg) rs747782128 0.00003
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) rs372896387 0.00003
NM_030665.4(RAI1):c.2947G>A (p.Glu983Lys) rs772512478 0.00003
NM_030665.4(RAI1):c.5183C>T (p.Thr1728Ile) rs201220981 0.00003
NM_031407.7(HUWE1):c.10670C>T (p.Ala3557Val) rs184876358 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu) rs782602356 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met) rs779140322 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426 0.00002
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=) rs565992344 0.00002
NM_001318510.2(ACSL4):c.1914C>A (p.Thr638=) rs755004249 0.00002
NM_001374828.1(ARID1B):c.4259C>T (p.Thr1420Met) rs371538726 0.00002
NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu) rs201164283 0.00002
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr) rs758092761 0.00002
NM_004519.4(KCNQ3):c.2128T>C (p.Tyr710His) rs181746838 0.00002
NM_006766.5(KAT6A):c.314G>A (p.Arg105Gln) rs764240239 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_018026.4(PACS1):c.1182G>A (p.Thr394=) rs765439755 0.00002
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser) rs544966826 0.00002
NM_024426.6(WT1):c.406C>A (p.Pro136Thr) rs748045691 0.00002
NM_024426.6(WT1):c.887+4G>A rs778673400 0.00002
NM_030665.4(RAI1):c.585C>T (p.Asn195=) rs772210966 0.00002
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) rs140382420 0.00002
NM_078629.4(MSL3):c.520A>G (p.Ile174Val) rs777091019 0.00002
NM_181332.3(NLGN4X):c.516C>T (p.Ile172=) rs182247389 0.00002
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000834.5(GRIN2B):c.60C>T (p.Ala20=) rs371566007 0.00001
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790 0.00001
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) rs782341083 0.00001
NM_001282531.3(ADNP):c.191C>T (p.Thr64Met) rs752399004 0.00001
NM_001282531.3(ADNP):c.2809G>A (p.Glu937Lys) rs184697035 0.00001
NM_001365999.1(SZT2):c.780C>T (p.Ile260=) rs375794037 0.00001
NM_001374828.1(ARID1B):c.4370G>A (p.Ser1457Asn) rs142808724 0.00001
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=) rs761306770 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001754.5(RUNX1):c.1030G>A (p.Asp344Asn) rs759684186 0.00001
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu) rs762213305 0.00001
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met) rs760372994 0.00001
NM_005445.4(SMC3):c.1671-4T>C rs201392611 0.00001
NM_005859.5(PURA):c.480G>A (p.Lys160=) rs759194196 0.00001
NM_006766.5(KAT6A):c.2481T>C (p.Tyr827=) rs757005615 0.00001
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) rs559061651 0.00001
NM_006772.3(SYNGAP1):c.2352T>C (p.Ala784=) rs1286625722 0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met) rs780890592 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_015100.4(POGZ):c.1014G>A (p.Val338=) rs368767235 0.00001
NM_015100.4(POGZ):c.3887T>C (p.Val1296Ala) rs774570324 0.00001
NM_016222.4(DDX41):c.1110G>A (p.Gln370=) rs773047033 0.00001
NM_016222.4(DDX41):c.718A>G (p.Ile240Val) rs139112542 0.00001
NM_018026.4(PACS1):c.2370A>T (p.Arg790=) rs199806038 0.00001
NM_018026.4(PACS1):c.2526C>T (p.Asp842=) rs756607682 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
NM_024426.6(WT1):c.34A>C (p.Thr12Pro) rs764111950 0.00001
NM_024426.6(WT1):c.586G>A (p.Gly196Ser) rs756501972 0.00001
NM_024757.5(EHMT1):c.2616A>G (p.Gly872=) rs779277999 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_030665.4(RAI1):c.5170C>T (p.Arg1724Trp) rs373198856 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886 0.00001
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854 0.00001
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr) rs782768766
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-23TC[20] rs3835070
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000791.4(DHFR):c.-437GGGGCGCTG[5] rs60484572
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_001005271.3(CHD3):c.243_245dup (p.Pro82_Leu83insPro) rs752425204
NM_001007553.3(CSDE1):c.2350-5C>A rs189058114
NM_001015877.2(PHF6):c.834+53_834+58del rs762323879
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042681.2(RERE):c.3925ATCCGAGAGCGGGAG[1] (p.1309IRERE[1]) rs776543471
NM_001042750.2(STAG2):c.3784-18CT[5] rs752096694
NM_001046.3(SLC12A2):c.288GGC[5] (p.Ala106_Ala107del) rs746633185
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) rs587783744
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001112741.2(KCNC1):c.744C>T (p.Ile248=) rs2229007
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134673.4(NFIA):c.1255-5_1255-4insTC rs1553183289
NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=) rs58740567
NM_001182.5(ALDH7A1):c.1318-372_1318-161del rs2480253676
NM_001183.6(ATP6AP1):c.96GGC[9] (p.Ala40_Ala41dup) rs781797236
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001190274.2(FBXO11):c.105GCCCCAGCAGCAGCC[1] (p.37QQQPP[1]) rs747252806
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001194.4(HCN2):c.107C>T (p.Pro36Leu) rs866177625
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001244008.2(KIF1A):c.2721GGA[7] (p.Glu914_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001271.4(CHD2):c.2505+152_2505+464del rs2505528660
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736
NM_001276270.2(MBD4):c.939del (p.Glu314fs) rs558765093
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110
NM_001286577.2(C2CD3):c.5496-6del rs747090151
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del) rs797045741
NM_001332.4(CTNND2):c.656CGC[9] (p.Pro226dup) rs557341981
NM_001365999.1(SZT2):c.2550+5G>A rs41270349
NM_001365999.1(SZT2):c.2550+5G>T rs41270349
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=) rs61731160
NM_001374828.1(ARID1B):c.1058CCG[4] (p.Ala357del) rs766956053
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly402_Ser403insGlyGly) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[7] (p.Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402_Ser403insGly) rs587779747
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del) rs587779748
NM_001374828.1(ARID1B):c.1211GAG[5] (p.Gly409_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[6] (p.Gly410_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1]) rs773423003
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440_Tyr441insGly) rs797045268
NM_001374828.1(ARID1B):c.1585CCG[6] (p.Pro533_Ser534insPro) rs572236007
NM_001374828.1(ARID1B):c.1619CGG[5] (p.Ala543_Gly544insAla) rs757953295
NM_001374828.1(ARID1B):c.1942C>A (p.Arg648=) rs143370913
NM_001374828.1(ARID1B):c.2137-3dup rs541477699
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=) rs537901478
NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del) rs770512547
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124_Ala125insSer) rs770512547
NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del) rs769480864
NM_001374828.1(ARID1B):c.501CCA[4] (p.His172del) rs752012879
NM_001374828.1(ARID1B):c.5589CGA[1] (p.Asp1864del) rs113820273
NM_001374828.1(ARID1B):c.591GCA[4] (p.Gln212_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214_His215insGln) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln) rs587779743
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln214_His215insGlnGlnGlnGlnGlnGlnGlnGln) rs770869529
NM_001374828.1(ARID1B):c.612_614del (p.Gln214del) rs754060642
NM_001374828.1(ARID1B):c.615GCA[6] (p.Gln214del) rs587779744
NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214_His215insGln) rs587779744
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln214_His215insGlnGln) rs587779744
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11942-20_11947dup rs745960214
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.13707G>T (p.Thr4569=) rs138571942
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) rs1014000010
NM_001394062.1(MACF1):c.15283G>T (p.Val5095Phe) rs141949859
NM_001493.3(GDI1):c.570G>A (p.Ala190=) rs782136459
NM_001940.4(ATN1):c.1464GCA[21] (p.Gln497_Gln502dup) rs60216939
NM_001987.5(ETV6):c.464-3C>T
NM_002063.4(GLRA2):c.931-18TC[7] rs752610633
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002249.6(KCNN3):c.200AGC[23] (p.Gln72_Gln80dup) rs3831942
NM_002430.3(MN1):c.912GCA[7] (p.Gln309_His310insGln) rs747503495
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.1949+195_1949+396del rs2509238958
NM_002693.3(POLG):c.1949+218_1949+415del rs2509237908
NM_003042.4(SLC6A1):c.651G>T (p.Thr217=) rs6344
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003482.4(KMT2D):c.10812_10832dup (p.Gln3606_Gln3612dup) rs772217807
NM_004187.5(KDM5C):c.1794C>G (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) rs746430067
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004484.4(GPC3):c.1574-7_1574-4del rs751413609
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004606.5(TAF1):c.830AGG[3] (p.Glu278dup) rs773753966
NM_004830.4(MED23):c.40-6_40-5dup rs200823095
NM_004960.4(FUS):c.663TGG[3] (p.Gly231_Tyr232insGly) rs774111102
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup) rs72550890
NM_004974.4(KCNA2):c.1185G>C (p.Ala395=) rs78349687
NM_004977.3(KCNC3):c.71C>T (p.Pro24Leu) rs775818633
NM_005097.4(LGI1):c.432-6_432-5dup rs61662431
NM_005249.5(FOXG1):c.141CCA[6] (p.His57del) rs587783630
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005522.5(HOXA1):c.192CCA[5] (p.His70_His72del) rs747464910
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005859.5(PURA):c.132CGG[4] (p.Gly49del) rs754074166
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup) rs748085214
NM_006236.3(POU3F3):c.123_125dup (p.Gly43_Ala44insGly) rs1303053833
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006517.3(SLC16A2):c.73G>A (p.Gly25Arg) rs74640724
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006521.6(TFE3):c.1580AGG[3] (p.Glu530del) rs782080222
NM_006593.4(TBR1):c.1345GCGGGC[3] (p.Gly452_Pro453insAlaGly) rs780720807
NM_006766.5(KAT6A):c.1138_1139inv (p.Glu380Ser)
NM_006766.5(KAT6A):c.1445T>A (p.Met482Lys) rs138707191
NM_006766.5(KAT6A):c.2915G>C (p.Arg972Pro) rs376411038
NM_006766.5(KAT6A):c.3321AGA[2] (p.Glu1109del) rs3837198
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.3978A>C (p.Pro1326=) rs745764103
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup) rs749785358
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=) rs74033734
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly) rs115797011
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu) rs137894790
NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=) rs62000377
NM_013275.6(ANKRD11):c.4912C>G (p.Pro1638Ala) rs113527563
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014233.4(UBTF):c.2196CGA[2] (p.Asp734del) rs777305639
NM_014396.4(VPS41):c.2514_2537dup (p.Ala848_Ile849insLysAsnArgGlyProGlySerAla) rs754564437
NM_014491.4(FOXP2):c.1462T>G (p.Ser488Ala) rs201320940
NM_014491.4(FOXP2):c.1770-4dup rs398005923
NM_014491.4(FOXP2):c.1770-5_1770-4dup rs398005923
NM_014927.5(CNKSR2):c.2637GGA[6] (p.Glu886del) rs770084913
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg) rs145570114
NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del) rs782660284
NM_016032.4(ZDHHC9):c.487+14_487+15inv
NM_016222.4(DDX41):c.27+2_27+5dup rs142465759
NM_016222.4(DDX41):c.546C>A (p.Ser182Arg)
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_018026.4(PACS1):c.104AGC[7] (p.Gln40_Pro41insGln) rs749515977
NM_018026.4(PACS1):c.246_251del (p.Gly83_Ser84del) rs773020000
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020928.2(ZSWIM6):c.442GGC[8] (p.Gly154dup) rs864309616
NM_020928.2(ZSWIM6):c.498_506del (p.Thr167_Ala169del) rs1205042180
NM_020928.2(ZSWIM6):c.519_521del (p.Ala184del) rs1463741164
NM_020928.2(ZSWIM6):c.519_524del (p.Ala183_Ala184del) rs1189473844
NM_020928.2(ZSWIM6):c.522CGC[11] (p.Ala184_Gly185insAla) rs1262946696
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del) rs56064803
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021076.4(NEFH):c.2232_2233insCCCCAGTGAAGGAAGAAGCC (p.Lys745delinsProGlnTer) rs776915035
NM_021619.3(PRDM12):c.1041CGC[9] (p.Ala357_Ala359del) rs752427775
NM_021629.4(GNB4):c.917-12dup rs764075662
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln) rs61744451
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.5(NSD1):c.3001G>A (p.Asp1001Asn) rs139323440
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser) rs2480461526
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_024426.6(WT1):c.259G>A (p.Ala87Thr) rs752686863
NM_024426.6(WT1):c.569C>T (p.Pro190Leu) rs757349907
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_024496.4(IRF2BPL):c.462CGC[12] (p.Ala164_Val165insAlaAlaAla) rs371633333
NM_024757.5(EHMT1):c.324C>T (p.His108=) rs574402576
NM_024757.5(EHMT1):c.824-4_824-3del rs34385417
NM_030665.4(RAI1):c.1775G>C (p.Arg592Pro) rs141808855
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3731GCA[4] (p.Ser1248_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.4980G>T (p.Pro1660=) rs114118087
NM_030665.4(RAI1):c.834GCA[11] (p.Gln290_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[14] (p.Gln291dup) rs371983878
NM_031407.7(HUWE1):c.10434C>T (p.Ser3478=) rs782089185
NM_031407.7(HUWE1):c.10510C>G (p.Pro3504Ala) rs199693166
NM_031407.7(HUWE1):c.5025A>G (p.Arg1675=) rs782240883
NM_031407.7(HUWE1):c.568-11dup rs112428926
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) rs587784044
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) rs750165040
NM_138735.4(NRXN1):c.49[5] (p.Gly17[5]) rs750165040
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5]) rs1462103775
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_153252.5(BRWD3):c.814-4del rs751020595
NM_170606.3(KMT2C):c.7443-6_7443-5insTA rs1491309235
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.871G>A (p.Ala291Thr) rs201889040
NM_176787.5(PIGN):c.1408A>T (p.Ile470Leu) rs3862712
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val) rs201534650
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_198904.4(GABRG2):c.-4dup rs771282908

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