ClinVar Miner

List of variants reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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ClinVar version:
Total variants: 3974
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_006019.4(TCIRG1):c.1166-970A>G rs906713 0.81709
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_181688.3(KRTAP10-10):c.302T>A (p.Val101Glu) rs115298124 0.05080
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.04207
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_198687.2(KRTAP10-4):c.355T>C (p.Cys119Arg) rs79601471 0.03880
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_173076.3(ABCA12):c.821A>G (p.Gln274Arg) rs11890468 0.03767
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876 0.03745
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys) rs7823979 0.02971
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_130797.4(DPP6):c.226G>A (p.Asp76Asn) rs569787719 0.02864
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038 0.02714
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_005634.3(SOX3):c.127G>A (p.Ala43Thr) rs73637709 0.02446
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg) rs150466109 0.02394
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_000529.2(MC2R):c.833T>G (p.Phe278Cys) rs28926182 0.02378
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02173
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_000284.4(PDHA1):c.57+2482G>A rs145749914 0.02089
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01995
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) rs73507527 0.01935
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser) rs35533773 0.01925
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.736-15_736-4dup rs111033503 0.01906
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_005045.4(RELN):c.4589-8T>G rs362801 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu) rs73866065 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01873
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_001097579.2(GPR34):c.884A>G (p.Asn295Ser) rs61746390 0.01840
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_000453.3(SLC5A5):c.1507G>A (p.Asp503Asn) rs73520745 0.01778
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_017909.4(RMND1):c.1349G>A (p.Ter450=) rs115079861 0.01733
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_013275.6(ANKRD11):c.-59-7491G>A rs7186101 0.01679
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945 0.01665
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530 0.01650
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_005634.3(SOX3):c.307C>A (p.Pro103Thr) rs201101913 0.01624
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
NM_181688.3(KRTAP10-10):c.248A>C (p.Asp83Ala) rs76743925 0.01608
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424 0.01608
NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn) rs16844031 0.01605
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083 0.01589
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001370595.2(COA8):c.23A>G (p.Lys8Arg) rs190920873 0.01562
NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr) rs8120693 0.01560
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_001127671.2(LIFR):c.1886-18C>T rs3729743 0.01528
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_002465.4(MYBPC1):c.556+9G>A rs112788142 0.01527
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_022835.3(PLEKHG2):c.2600-20G>A rs73930732 0.01515
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_001289.6(CLIC2):c.57+10C>T rs7050330 0.01508
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_197947.3(CLEC7A):c.482C>T (p.Ser161Leu) rs59819090 0.01488
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) rs61741688 0.01485
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_001160372.4(TRAPPC9):c.1982-20A>C rs74414386 0.01477
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371 0.01466
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_002661.5(PLCG2):c.1558-18C>T rs113312523 0.01465
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01465
NM_031407.7(HUWE1):c.2262-17C>A rs143891272 0.01465
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) rs35252424 0.01444
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser) rs79325774 0.01424
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_020365.5(EIF2B3):c.975+9A>G rs79174967 0.01419
NM_054021.2(GPR101):c.712G>A (p.Val238Ile) rs139111924 0.01417
NM_004830.4(MED23):c.495+15dup rs146793642 0.01415
NM_003172.4(SURF1):c.751+6T>C rs41296099 0.01414
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) rs34417963 0.01412
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_020442.6(VARS2):c.1514C>T (p.Ser505Phe) rs61746524 0.01404
NM_001813.3(CENPE):c.4204A>G (p.Ile1402Val) rs35505100 0.01398
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_001369268.1(ACAN):c.3010A>G (p.Thr1004Ala) rs34570487 0.01391
NM_005726.6(TSFM):c.754G>A (p.Val252Ile) rs114694283 0.01391
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_017840.4(MRPL16):c.619C>T (p.Arg207Cys) rs491671 0.01368
NM_001041.4(SI):c.517C>G (p.Pro173Ala) rs146960446 0.01365
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_001048166.1(STIL):c.453+18C>T rs75983191 0.01360
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_203447.4(DOCK8):c.53+52T>G rs192260189 0.01354
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01346
NM_001440.4(EXTL3):c.1324G>C (p.Val442Leu) rs116659770 0.01342
NM_017654.4(SAMD9):c.995T>C (p.Ile332Thr) rs76377166 0.01341
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_001102401.4(TTI2):c.834+11T>G rs78086946 0.01332
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711 0.01329
NM_014639.4(SKIC3):c.130G>A (p.Val44Ile) rs114914951 0.01327
NM_014639.4(SKIC3):c.3092+19C>G rs144081410 0.01325
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu) rs61736805 0.01313
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_016579.4(CD320):c.769G>A (p.Glu257Lys) rs2232786 0.01308
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_021828.5(HPSE2):c.943G>A (p.Ala315Thr) rs17110744 0.01293
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_016592.5(GNAS):c.715C>A (p.Pro239Thr) rs79527543 0.01288
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_014694.4(ADAMTSL2):c.88A>G (p.Thr30Ala) rs62637569 0.01285
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295 0.01261
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_001379500.1(COL18A1):c.107-12566A>T rs61735029 0.01258
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_001846.4(COL4A2):c.649-16C>T rs56269522 0.01248
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512 0.01248
NM_000875.5(IGF1R):c.1463-5C>A rs36108138 0.01246
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_025129.5(FUZ):c.1238C>A (p.Ala413Asp) rs115945199 0.01238
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_000797.4(DRD4):c.1004C>G (p.Ala335Gly) rs200996360 0.01230
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) rs61729806 0.01220
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731 0.01214
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_016824.5(ADD3):c.304T>C (p.Ser102Pro) rs41291886 0.01203
NM_020223.4(FAM20C):c.46G>T (p.Val16Leu) rs150401144 0.01203
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser) rs76253513 0.01202
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val) rs17144788 0.01186
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) rs11302 0.01176
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_001371986.1(UNC80):c.9503C>T (p.Pro3168Leu) rs61271372 0.01165
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_024665.7(TBL1XR1):c.1416+14A>G rs144060569 0.01159
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser) rs76547444 0.01152
NM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile) rs61753876 0.01148
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01144
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001321218.2(B9D1):c.473-1G>C rs73980009 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_000424.4(KRT5):c.631G>A (p.Val211Met) rs147498164 0.01130
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849 0.01129
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01129
NM_001101.5(ACTB):c.363+16C>T rs73332405 0.01128
NM_018965.4(TREM2):c.*73G>A rs2234258 0.01125
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys) rs73342622 0.01124
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met) rs8178040 0.01119
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_005534.4(IFNGR2):c.544A>G (p.Lys182Glu) rs17878711 0.01107
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_002160.4(TNC):c.2620A>G (p.Ile874Val) rs61737743 0.01101
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_152744.4(SDK1):c.1255C>G (p.Gln419Glu) rs150503747 0.01094
NM_015028.4(TNIK):c.417+11A>C rs141160238 0.01091
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
NM_001737.5(C9):c.379G>T (p.Asp127Tyr) rs696763 0.01089
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_020987.5(ANK3):c.10953A>C (p.Lys3651Asn) rs115903343 0.01085
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228 0.01084
NM_007180.3(TREH):c.1345T>C (p.Tyr449His) rs11827611 0.01084
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_020987.5(ANK3):c.382A>G (p.Thr128Ala) rs114937210 0.01080
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939 0.01077
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_013275.6(ANKRD11):c.-59-7422C>T rs80051617 0.01067
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796 0.01063
NM_001136193.2(FASTKD2):c.1187A>G (p.Asn396Ser) rs79652942 0.01063
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His) rs73219719 0.01054
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150 0.01053
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001142416.2(AIMP1):c.310A>G (p.Thr104Ala) rs113844295 0.01050
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr) rs144081819 0.01045
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) rs117576908 0.01035
NM_033419.5(PGAP3):c.422C>G (p.Ala141Gly) rs35464006 0.01035
NM_030632.3(ASXL3):c.1409A>C (p.His470Pro) rs80040227 0.01034
NM_052845.4(MMAB):c.520-127G>A rs114996305 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302 0.01031
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051 0.01025
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001312909.2(FAM111A):c.310T>A (p.Leu104Ile) rs74658848 0.01021
NM_001369.3(DNAH5):c.13338+16C>T rs115271897 0.01021
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_022095.4(ZNF335):c.1102+9T>C rs112458662 0.01017
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_001673.5(ASNS):c.829G>A (p.Ala277Thr) rs2070159 0.01014
NM_016529.6(ATP8A2):c.1398-13T>G rs80107486 0.01012
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_007103.4(NDUFV1):c.1163-12del rs147787116 0.01006
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_007198.4(PLPBP):c.70G>A (p.Val24Met) rs35423325 0.01005
NM_005631.5(SMO):c.1140+13G>A rs56358283 0.01004
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_006662.3(SRCAP):c.6495-8C>A rs75991082 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000666.3(ACY1):c.536A>G (p.Asn179Ser) rs887540 0.00993
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_004667.6(HERC2):c.4009C>T (p.Leu1337Phe) rs145594989 0.00991
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_145262.4(GLYCTK):c.1181C>T (p.Thr394Ile) rs9813489 0.00984
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00979
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_013335.4(GMPPA):c.40+15G>A rs80239182 0.00978
NM_020066.5(FMN2):c.778G>A (p.Ala260Thr) rs147858483 0.00978
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_015311.3(OBSL1):c.119C>G (p.Pro40Arg) rs191256186 0.00971
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066 0.00969
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212 0.00969
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721 0.00968
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_004408.4(DNM1):c.1905+17C>T rs115623280 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_004408.4(DNM1):c.1894-18G>T rs116335289 0.00963
NM_022786.3(ARV1):c.94T>C (p.Tyr32His) rs34745784 0.00963
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr) rs137973249 0.00954
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_001042681.2(RERE):c.879+20C>T rs77037803 0.00942
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp) rs28454778 0.00937
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) rs61749567 0.00937
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_152743.4(BRAT1):c.1135-8C>A rs113613637 0.00936
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_007118.4(TRIO):c.8047+17T>C rs80292429 0.00932
NM_199355.4(ADAMTS18):c.35C>G (p.Pro12Arg) rs200952997 0.00932
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_001369.3(DNAH5):c.6579+20G>A rs115382993 0.00928
NM_015713.5(RRM2B):c.48+273G>T rs149523343 0.00928
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_001292063.2(OTOG):c.2512G>C (p.Gly838Arg) rs61734214 0.00925
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372 0.00921
NM_000637.5(GSR):c.334-5T>A rs28641651 0.00920
NM_001963.6(EGF):c.3127C>T (p.Leu1043Phe) rs11569098 0.00920
NM_000124.4(ERCC6):c.3659C>T (p.Thr1220Ile) rs34704611 0.00919
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_000618.5(IGF1):c.402+1663C>A rs6213 0.00914
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_001278689.2(EOGT):c.563A>T (p.Lys188Ile) rs116138787 0.00908
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_001384140.1(PCDH15):c.92-493A>T rs77290854 0.00896
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_006059.4(LAMC3):c.2516C>T (p.Thr839Met) rs57816762 0.00893
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000428.3(LTBP2):c.1790-17G>A rs147282006 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_001104631.2(PDE4D):c.809-124C>A rs16889108 0.00881
NM_001177701.3(IFT27):c.415C>T (p.Arg139Trp) rs112218090 0.00881
NM_016529.6(ATP8A2):c.2278G>A (p.Val760Met) rs35540339 0.00881
NM_001099403.2(PRDM8):c.451+13G>T rs61999345 0.00880
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_024298.5(MBOAT7):c.1364G>A (p.Arg455Gln) rs79199039 0.00877
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala) rs41302407 0.00872
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_006331.8(EMG1):c.38G>T (p.Arg13Leu) rs36061201 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_006623.4(PHGDH):c.357-17T>C rs76447100 0.00863
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His) rs5974620 0.00857
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met) rs73658916 0.00851
NM_018648.4(NOP10):c.34G>C (p.Asp12His) rs146261631 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys) rs147388235 0.00850
NM_002544.5(OMG):c.1304T>C (p.Val435Ala) rs16972169 0.00849
NM_020461.4(TUBGCP6):c.3307C>T (p.Arg1103Trp) rs61739385 0.00849
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_007117.5(TRH):c.248G>A (p.Arg83His) rs61740106 0.00846
NM_001163809.2(WDR81):c.5325+6G>C rs115714169 0.00845
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_001136193.2(FASTKD2):c.1090G>A (p.Asp364Asn) rs34709212 0.00843
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_003502.4(AXIN1):c.2186+7C>T rs189357878 0.00833
NM_020987.5(ANK3):c.2615-6882A>G rs41283526 0.00832
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_006495.4(EVI2B):c.157G>A (p.Gly53Arg) rs9903564 0.00823
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) rs760502262 0.00823
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg) rs78829338 0.00822
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_001290043.2(TAP2):c.44T>C (p.Val15Ala) rs55827768 0.00817
NM_020921.4(NIN):c.264A>T (p.Pro88=) rs61755037 0.00815
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_001080517.3(SETD5):c.3409A>G (p.Met1137Val) rs13327456 0.00812
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_001371986.1(UNC80):c.600+5G>A rs116203254 0.00800
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815 0.00800
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_001318510.2(ACSL4):c.1855+11A>G rs116830999 0.00794
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_014855.3(AP5Z1):c.1132+14G>T rs139019097 0.00792
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_015909.4(NBAS):c.1093G>C (p.Asp365His) rs76459791 0.00787
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407 0.00785
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001190880.3(HYI):c.804T>G (p.Asp268Glu) rs62620015 0.00784
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_001244008.2(KIF1A):c.5021+16C>T rs138847355 0.00783
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440 0.00783
NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly) rs143509965 0.00781
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381 0.00781
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe) rs56168869 0.00780
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_001039591.3(USP9X):c.4603+19A>G rs55900117 0.00771
NM_001277115.2(DNAH11):c.7812-18C>G rs147865931 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) rs76599088 0.00768
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_015425.6(POLR1A):c.1187G>A (p.Ser396Asn) rs35443467 0.00763
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_007118.4(TRIO):c.7391C>T (p.Ala2464Val) rs115054458 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_005027.4(PIK3R2):c.1736+12C>T rs112411913 0.00759
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_173076.3(ABCA12):c.5617G>A (p.Val1873Ile) rs114258385 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys) rs61323219 0.00757
NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met) rs151073358 0.00757
NM_001478.5(B4GALNT1):c.1547C>T (p.Ala516Val) rs17454674 0.00756
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) rs182019900 0.00755
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_000617.3(SLC11A2):c.1422-18T>A rs11834061 0.00753
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_001830.4(CLCN4):c.244+4C>G rs192492405 0.00750
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_002976.4(SCN7A):c.1685A>G (p.Tyr562Cys) rs143491867 0.00743
NM_001080510.5(METTL23):c.136G>C (p.Glu46Gln) rs114299201 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_004260.4(RECQL4):c.2463+16C>A rs747029514 0.00736
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_018013.4(SOBP):c.319A>G (p.Thr107Ala) rs148915050 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_004425.4(ECM1):c.1100A>T (p.Asp367Val) rs151102225 0.00732
NM_001983.4(ERCC1):c.843+32G>A rs116640350 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545 0.00728
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) rs35902264 0.00726
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu) rs61735441 0.00722
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_001081550.2(THOC2):c.130+19T>A rs181749437 0.00720
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001365999.1(SZT2):c.5025-17A>G rs149950330 0.00719
NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly) rs142060614 0.00719
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00717
NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr) rs113268527 0.00717
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
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_004369.4(COL6A3):c.1791C>T (p.Phe597=) rs76576170 0.00714
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_001271938.2(MEGF8):c.5489-16C>T rs35875097 0.00707
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) rs77326997 0.00707
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_198576.4(AGRN):c.1660G>A (p.Val554Met) rs79016973 0.00706
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
NM_003922.4(HERC1):c.2521-20C>T rs78084910 0.00704
NM_014324.6(AMACR):c.*753T>G rs140021599 0.00704
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) rs62000432 0.00702
NM_002206.3(ITGA7):c.1281+13G>A rs143895796 0.00701
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001378778.1(MPDZ):c.1990T>C (p.Phe664Leu) rs149169783 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_015028.4(TNIK):c.124-18A>G rs76246285 0.00699
NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg) rs61612406 0.00698
NM_001543.5(NDST1):c.1970+10C>T rs75978931 0.00697
NM_152464.3(TMEM199):c.256T>C (p.Tyr86His) rs35276012 0.00696
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017 0.00692
NM_020461.4(TUBGCP6):c.4821+14C>T rs55985560 0.00692
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn) rs3813188 0.00690
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_018684.4(ZC4H2):c.398+19G>T rs140551642 0.00686
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) rs2912838 0.00684
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00682
NM_001308210.2(TSHZ1):c.503C>T (p.Thr168Ile) rs112669427 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_152912.5(MTIF3):c.413A>G (p.Gln138Arg) rs140262959 0.00675
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088 0.00672
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_173602.3(DIP2B):c.793G>A (p.Asp265Asn) rs73093419 0.00668
NM_003477.3(PDHX):c.566G>A (p.Arg189His) rs61752925 0.00665
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) rs115331762 0.00660
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp) rs150960964 0.00656
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_012472.6(DNAAF11):c.914+13A>G rs113135637 0.00652
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001190880.3(HYI):c.505+5G>A rs111686948 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_198691.3(KRTAP10-1):c.22G>A (p.Val8Ile) rs11910525 0.00643
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_017721.5(CC2D1A):c.1823+15C>G rs139110235 0.00641
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546 0.00640
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997 0.00639
NM_001379500.1(COL18A1):c.107-12656C>T rs7277693 0.00639
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358 0.00639
NM_022835.3(PLEKHG2):c.2308G>A (p.Ala770Thr) rs111487768 0.00638
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser) rs117132825 0.00636
NM_001101648.2(NPC1L1):c.529G>A (p.Val177Ile) rs149017550 0.00635
NM_007118.4(TRIO):c.1732-18A>G rs16903402 0.00635
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe) rs28362302 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val) rs9332747 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_000651.6(CR1):c.5811-11C>A rs115988205 0.00628
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_001378964.1(CDON):c.2051C>G (p.Thr684Ser) rs145983470 0.00624
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098 0.00624
NM_198569.3(ADGRG6):c.794G>C (p.Gly265Ala) rs111589388 0.00623
NM_015158.5(KANK1):c.2896+18C>T rs113240136 0.00622
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958 0.00620
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) rs115661422 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_012310.5(KIF4A):c.1276G>T (p.Ala426Ser) rs145983282 0.00617
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788 0.00612
NM_001278689.2(EOGT):c.620+17G>A rs144884919 0.00611
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_145207.3(AFG2A):c.2485G>T (p.Asp829Tyr) rs35206443 0.00609
NM_000542.5(SFTPB):c.529G>A (p.Val177Ile) rs34550459 0.00607
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00606
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_198688.3(KRTAP10-6):c.107A>C (p.Asp36Ala) rs201362069 0.00605
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_017429.3(BCO1):c.1622G>A (p.Cys541Tyr) rs141781255 0.00604
NM_001010898.4(SLC6A17):c.2036A>G (p.Lys679Arg) rs41313405 0.00603
NM_001122630.2(CDKN1C):c.-11+61G>A rs188494894 0.00603
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_000270.4(PNP):c.649G>A (p.Val217Ile) rs138702206 0.00601
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_001670.3(ARVCF):c.1616G>A (p.Arg539Gln) rs16982871 0.00600
NM_002855.5(NECTIN1):c.988G>A (p.Glu330Lys) rs150553818 0.00600
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_006059.4(LAMC3):c.2438G>A (p.Ser813Asn) rs55741126 0.00598
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 0.00598
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986 0.00597
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456 0.00596
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_020066.5(FMN2):c.2855C>G (p.Ala952Gly) rs200503778 0.00593
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe) rs72649573 0.00591
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676 0.00591
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_052845.4(MMAB):c.349-17T>C rs72650187 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala) rs144913206 0.00580
NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser) rs150295921 0.00580
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser) rs34545616 0.00579
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_003619.4(PRSS12):c.1270G>A (p.Val424Ile) rs77322543 0.00577
NM_004429.5(EFNB1):c.509C>T (p.Ala170Val) rs147599832 0.00577
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001118887.2(ANGPT2):c.994G>A (p.Val332Ile) rs7813215 0.00576
NM_001378457.1(DMXL2):c.2707A>G (p.Asn903Asp) rs16953073 0.00576
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_001383.6(DPH1):c.470C>T (p.Thr157Ile) rs116911386 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_003922.4(HERC1):c.11036G>A (p.Arg3679His) rs143508709 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476 0.00571
NM_002447.4(MST1R):c.1838A>C (p.Gln613Pro) rs35986685 0.00570
NM_004341.5(CAD):c.6343G>C (p.Val2115Leu) rs61737365 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu) rs6844109 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_016529.6(ATP8A2):c.3075+19T>C rs41291650 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_001370595.2(COA8):c.224A>G (p.Asn75Ser) rs35960830 0.00562
NM_020066.5(FMN2):c.2657T>G (p.Met886Arg) rs146874723 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_019066.5(MAGEL2):c.2692A>G (p.Ser898Gly) rs180690391 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773 0.00560
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_006129.5(BMP1):c.2234-20C>T rs142089697 0.00555
NM_003922.4(HERC1):c.4714T>G (p.Ser1572Ala) rs16947363 0.00553
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_001291303.3(FAT4):c.14663C>G (p.Ala4888Gly) rs35340865 0.00551
NM_004104.5(FASN):c.2155G>A (p.Glu719Lys) rs12946178 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_020686.6(ABAT):c.954+16C>T rs41311266 0.00550
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_004044.7(ATIC):c.1670C>T (p.Ala557Val) rs76436141 0.00548
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val) rs146747167 0.00548
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_004044.7(ATIC):c.380-18G>A rs190975135 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655 0.00545
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) rs61729156 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn) rs34678569 0.00540
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_000065.5(C6):c.542C>T (p.Thr181Ile) rs114609505 0.00539
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_019023.5(PRMT7):c.1718G>A (p.Ser573Asn) rs61745807 0.00538
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_004933.3(CDH15):c.1876C>T (p.Leu626Phe) rs78261372 0.00536
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met) rs147276945 0.00535
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_004813.4(PEX16):c.952+18C>T rs112068553 0.00535
NM_007286.6(SYNPO):c.814C>T (p.Pro272Ser) rs146345840 0.00534
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_007118.4(TRIO):c.2588-12T>A rs146739260 0.00533
NM_020987.5(ANK3):c.6953A>G (p.Lys2318Arg) rs59021407 0.00532
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_031475.3(ESPN):c.1709C>T (p.Pro570Leu) rs527968078 0.00529
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00525
NM_001286577.2(C2CD3):c.3695A>G (p.Asn1232Ser) rs140307393 0.00525
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_004211.5(SLC6A5):c.137C>G (p.Pro46Arg) rs12364685 0.00520
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) rs112402535 0.00518
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_006267.5(RANBP2):c.73-6T>A rs201485597 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His) rs181285619 0.00514
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_006556.4(PMVK):c.287T>C (p.Val96Ala) rs139248801 0.00513
NM_018714.3(COG1):c.2620-10T>G rs144989249 0.00513
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_025074.7(FRAS1):c.2575+20A>C rs80008695 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_004933.3(CDH15):c.718C>T (p.Leu240Phe) rs142647750 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_001036.6(RYR3):c.8705+17A>C rs148404688 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_014875.3(KIF14):c.3808A>C (p.Ser1270Arg) rs75449932 0.00507
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_016553.5(NUP62):c.560C>T (p.Thr187Met) rs140655913 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001813.3(CENPE):c.6974C>G (p.Ser2325Cys) rs61751592 0.00501
NM_144508.5(KNL1):c.6212+5G>A rs115900739 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800 0.00499
NM_001098484.3(SLC4A4):c.2764-2dup rs148961885 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001303052.2(MYT1L):c.1817+15T>G rs180992065 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_014314.4(RIGI):c.2317G>A (p.Glu773Lys) rs144181118 0.00495
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_001364905.1(LRBA):c.3825+15T>G rs74366731 0.00494
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935 0.00494
NM_152906.7(TANGO2):c.419G>A (p.Arg140Gln) rs142442293 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862 0.00492
NM_001287.6(CLCN7):c.1961C>T (p.Thr654Met) rs114827619 0.00491
NM_002161.6(IARS1):c.3136G>A (p.Val1046Ile) rs34737051 0.00491
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_001382347.1(MYO5A):c.5409+16C>T rs185241256 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_000522.5(HOXA13):c.633G>T (p.Met211Ile) rs35277569 0.00488
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_020442.6(VARS2):c.2500C>T (p.Arg834Cys) rs142520878 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_001366285.2(TBXT):c.1016C>T (p.Ala339Val) rs117097130 0.00486
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_052867.4(NALCN):c.4446+15T>C rs78312347 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925 0.00483
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_002968.3(SALL1):c.292A>G (p.Met98Val) rs28643388 0.00481
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter) rs76274604 0.00480
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00478
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_020987.5(ANK3):c.13065+20G>A rs142778119 0.00477
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_001064.4(TKT):c.339+3A>C rs180704294 0.00473
NM_003235.5(TG):c.7755-9T>G rs190979363 0.00473
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_198506.5(LRIT3):c.1621A>G (p.Ile541Val) rs35997283 0.00473
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473 0.00472
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys) rs190351859 0.00469
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_014727.3(KMT2B):c.364-16C>T rs138399600 0.00468
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_006734.4(HIVEP2):c.1033A>G (p.Ile345Val) rs141050437 0.00462
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys) rs181679245 0.00459
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_004456.5(EZH2):c.2028T>C (p.Asn676=) rs115842196 0.00457
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894 0.00457
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_020207.7(ERCC6L2):c.21G>C (p.Gln7His) rs139286981 0.00453
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_015047.3(EMC1):c.719C>T (p.Pro240Leu) rs141614470 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_006612.6(KIF1C):c.1165+4G>A rs192489748 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_001109878.2(TBX22):c.176-13C>A rs55760411 0.00447
NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu) rs115310908 0.00447
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) rs111567318 0.00446
NM_020812.4(DOCK6):c.434G>A (p.Arg145Gln) rs140883567 0.00446
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295 0.00445
NM_001291867.2(NHS):c.566-52165C>T rs143065064 0.00445
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) rs143417446 0.00443
NM_001003787.4(STRADA):c.36+15A>G rs4968596 0.00441
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634 0.00441
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) rs61755328 0.00441
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00437
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys) rs142539336 0.00436
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_173630.4(RTTN):c.2309+12G>A rs144279235 0.00433
NM_032040.5(CCDC8):c.954T>G (p.Asn318Lys) rs143086771 0.00432
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp) rs35836343 0.00427
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_001127178.3(PIGG):c.759+16G>A rs148792489 0.00426
NM_001291303.3(FAT4):c.6733G>A (p.Val2245Ile) rs112971995 0.00426
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_017986.4(SLC52A1):c.371C>T (p.Ala124Val) rs146289149 0.00426
NM_001077350.3(NPRL3):c.1544+18C>T rs147148279 0.00424
NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu) rs34620697 0.00424
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) rs73184339 0.00421
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_001365276.2(TNXB):c.7168+19C>A rs11752495 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974 0.00419
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) rs114702742 0.00416
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_012213.3(MLYCD):c.799-16C>T rs150789545 0.00413
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00413
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_001082971.2(DDC):c.183G>T (p.Glu61Asp) rs11575292 0.00411
NM_001378414.1(HDAC4):c.2532+17T>C rs190130626 0.00411
NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met) rs147554257 0.00411
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_080817.5(GPR82):c.554G>A (p.Ser185Asn) rs146786893 0.00408
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val) rs182239885 0.00407
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026 0.00407
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_145045.5(ODAD3):c.148C>T (p.Pro50Ser) rs143295007 0.00403
NM_001286445.3(RIPOR2):c.1613C>T (p.Ser538Leu) rs142889670 0.00401
NM_018263.6(ASXL2):c.4111C>A (p.Gln1371Lys) rs115221221 0.00401
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser) rs11797456 0.00401
NM_001080510.5(METTL23):c.569T>C (p.Leu190Pro) rs147321492 0.00400
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411 0.00400
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_004667.6(HERC2):c.10274C>T (p.Pro3425Leu) rs147705404 0.00400
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe) rs143785002 0.00396
NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe) rs146036604 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_024105.4(ALG12):c.1163-19G>A rs200745798 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000049.4(ASPA):c.245T>C (p.Met82Thr) rs80099330 0.00394
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812 0.00394
NM_001171155.2(PET100):c.82G>A (p.Glu28Lys) rs4134804 0.00394
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_032322.4(RNF135):c.299A>G (p.His100Arg) rs368080023 0.00394
NM_001163809.2(WDR81):c.1877C>T (p.Pro626Leu) rs148644987 0.00393
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425 0.00392
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_002465.4(MYBPC1):c.1363+18A>G rs142044795 0.00389
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001256071.3(RNF213):c.1180A>G (p.Asn394Asp) rs74490096 0.00388
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg) rs187110381 0.00386
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu) rs868749 0.00385
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_002487.3(NDN):c.953T>C (p.Val318Ala) rs114077338 0.00379
NM_012216.4(MID2):c.720+17G>A rs141574483 0.00379
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_001379500.1(COL18A1):c.2032-9T>A rs144913625 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_003737.4(DCHS1):c.8758G>A (p.Val2920Met) rs115534913 0.00374
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro) rs145746791 0.00371
NM_005883.3(APC2):c.971C>T (p.Thr324Ile) rs201709261 0.00371
NM_007180.3(TREH):c.419A>G (p.Lys140Arg) rs34978247 0.00371
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) rs145771944 0.00369
NM_001378414.1(HDAC4):c.2445-18G>A rs202203032 0.00369
NM_025265.4(TSEN2):c.272-4C>G rs41293385 0.00369
NM_152424.4(AMER1):c.832G>T (p.Ala278Ser) rs35718712 0.00369
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619 0.00365
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_004044.7(ATIC):c.1234G>A (p.Glu412Lys) rs141872658 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676 0.00362
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser) rs62640590 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=) rs73892912 0.00360
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_001040436.3(YARS2):c.1275-2dup rs565781501 0.00357
NM_001080432.3(FTO):c.545G>C (p.Gly182Ala) rs61743972 0.00357
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_021147.5(CCNO):c.940G>A (p.Glu314Lys) rs114088695 0.00355
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val) rs35370270 0.00355
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) rs141146885 0.00350
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_024735.5(FBXO31):c.1181G>A (p.Arg394Gln) rs34412175 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_032608.7(MYO18B):c.7147C>T (p.Arg2383Trp) rs192639023 0.00345
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00340
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_004409.5(DMPK):c.882+8C>T rs141629958 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_000387.6(SLC25A20):c.773G>A (p.Arg258Gln) rs35989076 0.00337
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_014804.3(KIAA0753):c.754C>T (p.Arg252Cys) rs141632537 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_004425.4(ECM1):c.1083+10C>T rs55770822 0.00336
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825 0.00332
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) rs144922627 0.00332
NM_022574.5(GIGYF1):c.1192+14A>T rs199624326 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn) rs140463162 0.00330
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609 0.00327
NM_001257096.2(PAX1):c.1282+12A>C rs368123079 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=) rs62636611 0.00327
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_021927.3(GUF1):c.748C>T (p.Arg250Cys) rs116062572 0.00319
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303 0.00318
NM_006302.3(MOGS):c.881C>T (p.Pro294Leu) rs184209905 0.00318
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001042545.2(LTBP4):c.1238G>A (p.Gly413Asp) rs114749335 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013 0.00314
NM_005918.4(MDH2):c.66+17G>A rs189383313 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001368809.2(AMPD2):c.1407+3A>G rs41280332 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834 0.00309
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309 0.00308
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00303
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443 0.00303
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_001277115.2(DNAH11):c.13163-19T>A rs72658832 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_001349338.3(FOXP1):c.1652+403A>G rs76145927 0.00298
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611 0.00298
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090 0.00297
NM_181688.3(KRTAP10-10):c.710G>A (p.Arg237His) rs143765249 0.00297
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407 0.00296
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr) rs147622709 0.00295
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598 0.00289
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883 0.00288
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) rs34516635 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_015158.5(KANK1):c.633G>C (p.Gln211His) rs114076603 0.00287
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_001111307.2(PDE4A):c.991C>T (p.Pro331Ser) rs150660796 0.00286
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_198689.3(KRTAP10-7):c.46G>A (p.Gly16Ser) rs200384147 0.00284
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001039591.3(USP9X):c.6084C>T (p.Pro2028=) rs146661515 0.00282
NM_001112741.2(KCNC1):c.570+19A>T rs186151622 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330 0.00282
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn) rs76508383 0.00282
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_001190880.3(HYI):c.302G>A (p.Gly101Asp) rs141158872 0.00280
NM_001723.7(DST):c.5909T>C (p.Phe1970Ser) rs141573097 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_177433.3(MAGED2):c.130A>G (p.Lys44Glu) rs11555928 0.00280
NM_207037.2(TCF12):c.1520T>G (p.Leu507Arg) rs36060670 0.00280
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000285.4(PEPD):c.1163G>A (p.Arg388His) rs2230062 0.00278
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_001320752.2(STS):c.1731C>G (p.Ser577Arg) rs151332463 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) rs59504201 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_005921.2(MAP3K1):c.2179+16T>G rs201491763 0.00271
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_006734.4(HIVEP2):c.7036C>T (p.Leu2346Phe) rs117019703 0.00270
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_020442.6(VARS2):c.2293G>A (p.Val765Met) rs55865499 0.00270
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_001379029.1(CERT1):c.-84G>A rs5744539 0.00267
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_004667.6(HERC2):c.5440A>G (p.Thr1814Ala) rs138650689 0.00266
NM_006348.5(COG5):c.1262A>G (p.His421Arg) rs35393416 0.00266
NM_016302.4(CRBN):c.88G>A (p.Glu30Lys) rs78564552 0.00266
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile) rs3213608 0.00266
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_025152.3(NUBPL):c.608-16G>A rs140247189 0.00266
NM_001382347.1(MYO5A):c.5140G>A (p.Val1714Ile) rs143298463 0.00265
NM_003097.6(SNRPN):c.685+14T>G rs148422593 0.00265
NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile) rs139953376 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_015215.4(CAMTA1):c.3066+20C>T rs147462930 0.00264
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001182.4(ALDH7A1):c.-34G>C rs140627539 0.00261
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544 0.00261
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_004667.6(HERC2):c.5429T>C (p.Met1810Thr) rs142072884 0.00260
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_138422.4(ADAT3):c.854A>C (p.Asp285Ala) rs146212621 0.00259
NM_000892.5(KLKB1):c.806C>G (p.Ser269Cys) rs4253376 0.00258
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001134831.2(AHI1):c.-140+1G>T rs145372075 0.00258
NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys) rs141734980 0.00258
NM_003718.5(CDK13):c.1066C>G (p.Pro356Ala) rs17537669 0.00258
NM_004840.3(ARHGEF6):c.334+7C>T rs183417070 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001257096.2(PAX1):c.*156C>T rs138641387 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_000892.5(KLKB1):c.606C>A (p.His202Gln) rs4253373 0.00256
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val) rs139807657 0.00253
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg) rs144778786 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705 0.00251
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_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_022817.3(PER2):c.3250T>C (p.Cys1084Arg) rs138750527 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) rs141855950 0.00249
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) rs138220431 0.00247
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) rs145474820 0.00246
NM_017909.4(RMND1):c.140G>A (p.Arg47His) rs6934360 0.00245
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00245
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_031443.4(CCM2):c.1054+12C>T rs190686229 0.00243
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val) rs57325543 0.00242
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_015158.5(KANK1):c.1801G>A (p.Glu601Lys) rs115020236 0.00239
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_032436.4(CHAMP1):c.755C>T (p.Ala252Val) rs114331585 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757 0.00235
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu) rs61751983 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284 0.00232
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_007332.3(TRPA1):c.1878G>A (p.Met626Ile) rs61753709 0.00230
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_001349338.3(FOXP1):c.1146+19C>G rs140060227 0.00228
NM_001372044.2(SHANK3):c.291-18G>A rs779140644 0.00228
NM_000147.5(FUCA1):c.778G>A (p.Val260Ile) rs665 0.00227
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_053274.3(GLMN):c.165+10A>G rs201467961 0.00226
NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val) rs144738522 0.00225
NM_001289.6(CLIC2):c.478C>G (p.Pro160Ala) rs41304992 0.00224
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980 0.00224
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_000812.4(GABRB1):c.1263C>G (p.His421Gln) rs41311286 0.00220
NM_001349338.3(FOXP1):c.181-13T>G rs139264797 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp) rs80203202 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met) rs143578678 0.00217
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_000054.7(AVPR2):c.740G>A (p.Arg247His) rs149668713 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser) rs61745273 0.00211
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_006078.5(CACNG2):c.212-12C>A rs146357556 0.00210
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala) rs201223057 0.00210
NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp) rs79607350 0.00208
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006495.4(EVI2B):c.758G>T (p.Cys253Phe) rs115271229 0.00207
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_006044.4(HDAC6):c.3248G>A (p.Gly1083Asp) rs41312114 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930 0.00204
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val) rs116836855 0.00203
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys) rs137995316 0.00201
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000493.4(COL10A1):c.593G>A (p.Arg198His) rs148785195 0.00200
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln) rs148626062 0.00200
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_001371986.1(UNC80):c.3250+9A>G rs144170692 0.00196
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
NM_212550.5(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372 0.00196
NM_000717.5(CA4):c.*59G>A rs530720914 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys) rs190382829 0.00192
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_002742.3(PRKD1):c.2422A>G (p.Ile808Val) rs139355024 0.00188
NM_001134407.3(GRIN2A):c.1122+16T>A rs149886469 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_001493.3(GDI1):c.46-11C>A rs185552165 0.00186
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_004840.3(ARHGEF6):c.166-11T>C rs140322310 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_022152.6(TMBIM1):c.128C>T (p.Pro43Leu) rs35041266 0.00184
NM_024027.5(COLEC11):c.23T>C (p.Val8Ala) rs113269917 0.00184
NM_025000.4(DCAF17):c.127-15C>A rs146556466 0.00184
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_007118.4(TRIO):c.9110A>T (p.Lys3037Met) rs55900671 0.00179
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001378414.1(HDAC4):c.2532+18G>A rs186981980 0.00178
NM_006059.4(LAMC3):c.1630+5C>G rs184221540 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met) rs143346525 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) rs199566527 0.00175
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu) rs146504115 0.00175
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_001271.4(CHD2):c.4592+18G>A rs116022337 0.00174
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_144969.3(ZDHHC15):c.389T>A (p.Phe130Tyr) rs144514141 0.00173
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_001128228.3(TPRN):c.1261C>T (p.Pro421Ser) rs72763296 0.00167
NM_001242896.3(DEPDC5):c.814G>A (p.Val272Ile) rs187334123 0.00167
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554 0.00164
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_003737.4(DCHS1):c.58C>T (p.His20Tyr) rs201684495 0.00163
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00159
NM_002160.4(TNC):c.628G>A (p.Gly210Ser) rs144032672 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_001853.4(COL9A3):c.791C>T (p.Ala264Val) rs140330666 0.00157
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_005559.4(LAMA1):c.5660+7A>G rs144775658 0.00157
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_003737.4(DCHS1):c.5938A>T (p.Thr1980Ser) rs146411944 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_004667.6(HERC2):c.7058C>G (p.Thr2353Ser) rs145370046 0.00155
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_006044.4(HDAC6):c.2788G>C (p.Gly930Arg) rs148220149 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg) rs141673853 0.00154
NM_018965.4(TREM2):c.140G>A (p.Arg47His) rs75932628 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp) rs200823016 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_020812.4(DOCK6):c.5939+6C>T rs200393834 0.00149
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383 0.00147
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_020754.4(ARHGAP31):c.662C>T (p.Pro221Leu) rs751793 0.00146
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_015275.3(WASHC4):c.878G>A (p.Arg293Gln) rs35267264 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408 0.00142
NM_018263.6(ASXL2):c.140+186A>G rs138250852 0.00142
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met) rs111450526 0.00141
NM_016474.5(CCDC174):c.1106-10T>A rs144121914 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) rs140376049 0.00139
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu) rs144242373 0.00137
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser) rs117433399 0.00136
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) rs61751493 0.00134
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_001985.3(ETFB):c.521G>A (p.Arg174His) rs141917423 0.00130
NM_007327.4(GRIN1):c.258+18C>T rs202160831 0.00130
NM_014361.4(CNTN5):c.1047A>T (p.Lys349Asn) rs186615197 0.00130
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) rs138855624 0.00129
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997 0.00129
NM_001003841.3(SLC6A19):c.41G>A (p.Arg14Gln) rs147458082 0.00128
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_004519.4(KCNQ3):c.1568+12A>G rs181790623 0.00128
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile) rs147676957 0.00128
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_006265.3(RAD21):c.-32-1G>A rs16889042 0.00127
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val) rs150617429 0.00127
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg) rs185753602 0.00127
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141 0.00124
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_004667.6(HERC2):c.7729G>A (p.Val2577Ile) rs146366728 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_014822.4(SEC24D):c.1042-6C>G rs117971741 0.00120
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_000313.4(PROS1):c.234+5G>A rs187264712 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732 0.00118
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001759.4(CCND2):c.785G>A (p.Arg262His) rs142170178 0.00115
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_173602.3(DIP2B):c.1060T>C (p.Ser354Pro) rs117722674 0.00113
NM_182895.5(SCARF2):c.2522C>T (p.Thr841Ile) rs537247534 0.00113
NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn) rs146849256 0.00112
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839 0.00112
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln) rs142867197 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr) rs147666072 0.00109
NM_005450.6(NOG):c.251C>A (p.Pro84His) rs138481449 0.00109
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg) rs72657366 0.00108
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154 0.00107
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_000836.4(GRIN2D):c.2765C>T (p.Ala922Val) rs571334598 0.00105
NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286 0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001145809.2(MYH14):c.4033G>A (p.Ala1345Thr) rs148054042 0.00104
NM_004046.6(ATP5F1A):c.483+15C>T rs202110837 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014210.4(EVI2A):c.38A>G (p.His13Arg) rs144746834 0.00101
NM_002408.4(MGAT2):c.733G>C (p.Val245Leu) rs117536357 0.00100
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003 0.00096
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg) rs59763167 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_001036.6(RYR3):c.4622+14C>T rs182323574 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_001080516.2(GRXCR2):c.220C>G (p.Gln74Glu) rs151087704 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_016111.4(TELO2):c.32C>A (p.Ala11Asp) rs144863771 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001388492.1(HTT):c.3344C>G (p.Ala1115Gly) rs1065747 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_015275.3(WASHC4):c.995T>C (p.Ile332Thr) rs199927759 0.00091
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_001080517.3(SETD5):c.2927C>G (p.Ala976Gly) rs138685269 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_052865.4(MGME1):c.86C>G (p.Ser29Cys) rs143811282 0.00090
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 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_032382.5(COG8):c.5C>T (p.Ala2Val) rs151318611 0.00089
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_003412.4(ZIC1):c.1240A>G (p.Thr414Ala) rs143292136 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_198576.4(AGRN):c.44C>G (p.Pro15Arg) rs764659938 0.00088
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val) rs774603798 0.00084
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) rs143196463 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910 0.00081
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_016529.6(ATP8A2):c.76+10G>A rs369291641 0.00081
NM_153766.3(KCNJ1):c.180C>T (p.Tyr60=) rs104894244 0.00081
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_003482.4(KMT2D):c.1258+3G>A rs368687683 0.00079
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_002641.4(PIGA):c.-63+13C>T rs185874005 0.00077
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_004408.4(DNM1):c.2540C>T (p.Ser847Leu) rs199498658 0.00076
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp) rs34146052 0.00076
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153 0.00076
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_003200.5(TCF3):c.822+14C>T rs201725633 0.00073
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_015937.6(PIGT):c.806C>T (p.Thr269Met) rs149740779 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) rs200158932 0.00071
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268 0.00071
NM_014844.5(TECPR2):c.952-18T>G rs564260248 0.00071
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) rs138395800 0.00068
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_020822.3(KCNT1):c.601-13C>G rs202113794 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606 0.00067
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_013275.6(ANKRD11):c.3977C>T (p.Thr1326Met) rs144673419 0.00066
NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly) rs141234076 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_002055.5(GFAP):c.433G>A (p.Ala145Thr) rs141400812 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_017909.4(RMND1):c.668C>T (p.Pro223Leu) rs142521318 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395 0.00063
NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) rs369748157 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala) rs142482046 0.00060
NM_001324144.2(ZNF41):c.332C>T (p.Pro111Leu) rs104894955 0.00060
NM_153603.4(COG7):c.406G>A (p.Ala136Thr) rs149163316 0.00059
NM_001039591.3(USP9X):c.286G>T (p.Val96Leu) rs73480414 0.00058
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001164688.2(RD3):c.259A>G (p.Lys87Glu) rs200585050 0.00057
NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser) rs140583017 0.00057
NM_001375380.1(EBF3):c.1038C>G (p.Thr346=) rs142165671 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_020312.4(COQ9):c.841A>G (p.Met281Val) rs552465571 0.00056
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332 0.00055
NM_001102401.4(TTI2):c.581G>C (p.Gly194Ala) rs186443359 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_022114.4(PRDM16):c.553A>G (p.Met185Val) rs376567517 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_018341.3(ERMARD):c.563T>C (p.Val188Ala) rs74451194 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001379081.2(FREM1):c.2169+11A>C rs377670533 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_014489.4(PGAP2):c.712C>T (p.Arg238Cys) rs117338939 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_032121.5(MAGT1):c.67G>A (p.Val23Ile) rs182757967 0.00049
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446 0.00048
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005413.4(SIX3):c.824T>C (p.Ile275Thr) rs377320521 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158 0.00046
NM_002641.4(PIGA):c.-75A>G rs985880836 0.00046
NM_032737.4(LMNB2):c.265-19C>T rs199577453 0.00046
NM_001080517.3(SETD5):c.2476+4C>T rs371030587 0.00045
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863 0.00044
NM_000141.5(FGFR2):c.34G>A (p.Val12Met) rs143978938 0.00043
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser) rs149204722 0.00043
NM_016138.5(COQ7):c.136C>T (p.Arg46Trp) rs77337400 0.00043
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042
NM_001135998.3(NDUFB11):c.152C>A (p.Pro51Gln) rs150506634 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) rs45566933 0.00040
NM_001077525.3(MTMR14):c.727A>G (p.Thr243Ala) rs201904466 0.00040
NM_001080449.3(DNA2):c.2697+18T>C rs190301454 0.00040
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) rs143241583 0.00040
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln) rs147287319 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001368809.2(AMPD2):c.1081-8C>A rs145268448 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_000106.6(CYP2D6):c.1319G>A (p.Arg440His) rs267608319 0.00037
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu) rs377305989 0.00037
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_001042492.3(NF1):c.4835+29771T>C rs143996004 0.00036
NM_001042681.2(RERE):c.3396-19G>T rs200719277 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) rs138022657 0.00036
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_024105.4(ALG12):c.1425G>C (p.Gln475His) rs147000290 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_001916.5(CYC1):c.613C>T (p.His205Tyr) rs145475815 0.00035
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_012156.2(EPB41L1):c.1420A>G (p.Arg474Gly) rs753699939 0.00035
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_000787.4(DBH):c.1025-6T>A rs199926239 0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) rs115788094 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly) rs113313996 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln) rs201955990 0.00033
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281 0.00033
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729 0.00032
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_020754.4(ARHGAP31):c.2312T>C (p.Val771Ala) rs374149626 0.00032
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu) rs137858807 0.00031
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) rs200608977 0.00031
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_014491.4(FOXP2):c.1266+8C>T rs139649711 0.00030
NM_000178.4(GSS):c.1388C>T (p.Ala463Val) rs549546640 0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854 0.00029
NM_014026.6(DCPS):c.791G>A (p.Arg264Gln) rs140377449 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_006044.4(HDAC6):c.3132A>G (p.Ile1044Met) rs367767249 0.00028
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_014629.4(ARHGEF10):c.3589C>T (p.His1197Tyr) rs200779877 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_052897.4(MBD6):c.2899C>T (p.Arg967Cys) rs144794136 0.00027
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00026
NM_000548.5(TSC2):c.1120-17C>T rs201704675 0.00026
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_002968.3(SALL1):c.676G>A (p.Val226Ile) rs149603480 0.00026
NM_005002.5(NDUFA9):c.253C>T (p.Arg85Trp) rs71579253 0.00026
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076 0.00026
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys) rs142806268 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val) rs149900041 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln) rs765007158 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_012280.4(FTSJ1):c.656-6C>G rs183649523 0.00024
NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser) rs370603922 0.00023
NM_001070.5(TUBG1):c.479+18G>T rs370373585 0.00023
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_004722.4(AP4M1):c.380C>T (p.Thr127Met) rs147261925 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750 0.00022
NM_021926.4(ALX4):c.976G>A (p.Asp326Asn) rs186244229 0.00022
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys) rs145110365 0.00022
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln) rs61753339 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_004944.4(DNASE1L3):c.217G>A (p.Glu73Lys) rs149330798 0.00021
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_006059.4(LAMC3):c.3805G>A (p.Gly1269Ser) rs201011683 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000426.4(LAMA2):c.8988+15T>C rs201041465 0.00020
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418 0.00020
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_080817.5(GPR82):c.678C>A (p.Ser226Arg) rs137964251 0.00020
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_001128159.3(VPS53):c.1384G>A (p.Asp462Asn) rs377527856 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_005006.7(NDUFS1):c.738-20A>G rs200128097 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp) rs146976547 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_018451.5(CENPJ):c.204A>G (p.Ile68Met) rs375760447 0.00019
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00019
NM_001349.4(DARS1):c.671T>C (p.Ile224Thr) rs200961740 0.00018
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00018
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_007118.4(TRIO):c.3570+9A>G rs146993126 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_000106.6(CYP2D6):c.1321C>T (p.Arg441Cys) rs730882251 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) rs145615218 0.00017
NM_015488.5(PNKD):c.323A>G (p.His108Arg) rs142536637 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) rs138302371 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000718.4(CACNA1B):c.6237C>T (p.Gly2079=) rs199525864 0.00016
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 0.00016
NM_001367561.1(DOCK7):c.4844T>A (p.Phe1615Tyr) rs148491210 0.00016
NM_001374828.1(ARID1B):c.4603T>G (p.Ser1535Ala) rs145516400 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005676.5(RBM10):c.201+12G>A rs367790106 0.00016
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) rs148101254 0.00016
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198 0.00016
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu) rs780511606 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526 0.00016
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588 0.00016
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) rs560785308 0.00016
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00016
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly) rs141237776 0.00015
NM_001379200.1(TBX1):c.913C>A (p.Arg305=) rs751339103 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635 0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000266.4(NDP):c.385G>A (p.Glu129Lys) rs756474198 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001330311.2(DVL1):c.1777C>T (p.Arg593Trp) rs372681220 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn) rs373185353 0.00014
NM_006059.4(LAMC3):c.236C>T (p.Ala79Val) rs772194826 0.00014
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) rs377029115 0.00014
NM_013275.6(ANKRD11):c.4235T>C (p.Ile1412Thr) rs578198369 0.00014
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val) rs144209926 0.00014
NM_016327.3(UPB1):c.91G>A (p.Gly31Ser) rs200145797 0.00014
NM_020812.4(DOCK6):c.4216T>G (p.Ser1406Ala) rs34479977 0.00014
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_170707.4(LMNA):c.1874G>C (p.Ser625Thr) rs398124551 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001197104.2(KMT2A):c.10474G>A (p.Ala3492Thr) rs559663507 0.00013
NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala) rs1044746171 0.00013
NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu) rs149797560 0.00013
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_001955.5(EDN1):c.517C>A (p.His173Asn) rs149316725 0.00013
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894 0.00013
NM_017433.5(MYO3A):c.1828A>G (p.Ile610Val) rs151254539 0.00013
NM_033026.6(PCLO):c.10837G>T (p.Ala3613Ser) rs370030206 0.00013
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886 0.00012
NM_000787.4(DBH):c.1198C>T (p.Pro400Ser) rs200798319 0.00012
NM_000836.4(GRIN2D):c.3321T>A (p.Asp1107Glu) rs765809246 0.00012
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu) rs145470870 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_002361.4(MAG):c.1274G>A (p.Arg425Gln) rs144213585 0.00012
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr) rs146153708 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004525.3(LRP2):c.2476A>T (p.Asn826Tyr) rs201591789 0.00012
NM_016628.5(WAC):c.1460A>C (p.Gln487Pro) rs140693511 0.00012
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp) rs186332019 0.00012
NM_153603.4(COG7):c.2087C>T (p.Ala696Val) rs376170815 0.00012
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala) rs777842778 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) rs61758444 0.00011
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg) rs145197911 0.00011
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.8578C>T (p.Arg2860Cys) rs201681639 0.00011
NM_005559.4(LAMA1):c.2675A>G (p.Asp892Gly) rs374593442 0.00011
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly) rs748305494 0.00011
NM_000106.6(CYP2D6):c.368G>T (p.Arg123Leu) rs373000587 0.00010
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_001003841.3(SLC6A19):c.941C>T (p.Ser314Leu) rs369804798 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001673.5(ASNS):c.1465G>A (p.Val489Ile) rs772079299 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004273.5(CHST3):c.518C>T (p.Ser173Phe) rs751961615 0.00010
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser) rs141975071 0.00010
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_013275.6(ANKRD11):c.7519C>A (p.Gln2507Lys) rs572878194 0.00010
NM_014317.5(PDSS1):c.553G>A (p.Asp185Asn) rs144149122 0.00010
NM_015114.3(ANKLE2):c.212G>A (p.Arg71Gln) rs200911469 0.00010
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) rs146873580 0.00010
NM_020312.4(COQ9):c.476G>A (p.Arg159His) rs761979107 0.00010
NM_020987.5(ANK3):c.5422A>G (p.Ile1808Val) rs151312085 0.00010
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761 0.00010
NM_022915.5(MRPL44):c.505G>T (p.Val169Leu) rs754983787 0.00010
NM_024740.2(ALG9):c.50G>C (p.Ser17Thr) rs878853116 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_170707.4(LMNA):c.1873A>C (p.Ser625Arg) rs398124550 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001148.6(ANK2):c.6325G>A (p.Glu2109Lys) rs751026615 0.00009
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001378778.1(MPDZ):c.1894C>T (p.Arg632Cys) rs755060398 0.00009
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) rs763390190 0.00009
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483 0.00009
NM_001698.3(AUH):c.20C>T (p.Ala7Val) rs863223911 0.00009
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003482.4(KMT2D):c.10445G>A (p.Arg3482Gln) rs371223664 0.00009
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576 0.00009
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) rs148243411 0.00009
NM_020708.5(SLC12A5):c.2840C>G (p.Ala947Gly) rs199934904 0.00009
NM_152274.5(CCNQ):c.669C>T (p.Asp223=) rs376050298 0.00009
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513 0.00009
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr) rs143913941 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000548.5(TSC2):c.4569+12C>T rs45517350 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001163809.2(WDR81):c.5702C>T (p.Ser1901Leu) rs375949504 0.00008
NM_001349.4(DARS1):c.301A>T (p.Met101Leu) rs138416697 0.00008
NM_001367561.1(DOCK7):c.2612G>A (p.Gly871Glu) rs142531051 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_005027.4(PIK3R2):c.1290+4C>T rs376614345 0.00008
NM_014687.4(RUBCN):c.2209C>T (p.Arg737Trp) rs770720829 0.00008
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys) rs149875085 0.00008
NM_020066.5(FMN2):c.953C>T (p.Pro318Leu) rs769703635 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000073.3(CD3G):c.439+12C>T rs200093444 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_001032386.2(SUOX):c.1306G>A (p.Glu436Lys) rs142424431 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001303.4(COX10):c.1193G>A (p.Arg398His) rs200942884 0.00007
NM_001379500.1(COL18A1):c.2941G>A (p.Glu981Lys) rs774337224 0.00007
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp) rs147782267 0.00007
NM_002160.4(TNC):c.3707G>A (p.Arg1236His) rs147290484 0.00007
NM_004104.5(FASN):c.1468C>T (p.Arg490Cys) rs533081221 0.00007
NM_004525.3(LRP2):c.7874G>A (p.Gly2625Asp) rs745794041 0.00007
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 0.00007
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) rs146072589 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_017831.4(RNF125):c.92C>T (p.Pro31Leu) rs751589349 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_024740.2(ALG9):c.1785T>C (p.Tyr595=) rs374817147 0.00007
NM_030632.3(ASXL3):c.3350G>A (p.Arg1117Gln) rs200723688 0.00007
NM_032581.4(HYCC1):c.302T>C (p.Ile101Thr) rs780427026 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250 0.00007
NM_138501.6(TECR):c.262G>T (p.Val88Leu) rs753690636 0.00007
NM_178452.6(DNAAF1):c.353-18G>A rs201504436 0.00007
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00007
NM_000036.3(AMPD1):c.1389-16T>A rs778223264 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) rs199673198 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_001082538.3(TCTN1):c.1540A>G (p.Ile514Val) rs371539069 0.00006
NM_001082971.2(DDC):c.121C>A (p.Leu41Met) rs748932346 0.00006
NM_001136193.2(FASTKD2):c.356C>T (p.Ser119Phe) rs149250098 0.00006
NM_001142633.3(PIK3R5):c.2554A>G (p.Thr852Ala) rs376974440 0.00006
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_001351132.2(PEX5):c.966+3G>A rs373763823 0.00006
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu) rs201425412 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_004239.4(TRIP11):c.4087A>G (p.Ile1363Val) rs780275994 0.00006
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_005216.5(DDOST):c.550G>A (p.Gly184Arg) rs1166312788 0.00006
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_006059.4(LAMC3):c.2744G>A (p.Arg915Gln) rs749496192 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_007215.4(POLG2):c.694G>A (p.Gly232Ser) rs143660836 0.00006
NM_015100.4(POGZ):c.1895A>G (p.Asn632Ser) rs144140159 0.00006
NM_015311.3(OBSL1):c.3293G>A (p.Arg1098His) rs371148501 0.00006
NM_015570.4(AUTS2):c.1774C>G (p.Pro592Ala) rs199756061 0.00006
NM_016327.3(UPB1):c.10G>A (p.Ala4Thr) rs371262591 0.00006
NM_016343.4(CENPF):c.7352A>G (p.Asn2451Ser) rs138083875 0.00006
NM_018249.6(CDK5RAP2):c.449G>A (p.Arg150Gln) rs199723328 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_019066.5(MAGEL2):c.3746G>A (p.Arg1249His) rs745776063 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_032119.4(ADGRV1):c.4377C>T (p.Asp1459=) rs745380273 0.00006
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_079834.4(SCAMP4):c.-41-2328C>T rs1057520060 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_152743.4(BRAT1):c.1879G>A (p.Ala627Thr) rs750400556 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451 0.00005
NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys) rs749551841 0.00005
NM_000489.6(ATRX):c.6110+15A>G rs1309299805 0.00005
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile) rs373034150 0.00005
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) rs374767754 0.00005
NM_001371623.1(TCOF1):c.1961C>T (p.Ala654Val) rs201843484 0.00005
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys) rs536486149 0.00005
NM_003482.4(KMT2D):c.13058C>T (p.Pro4353Leu) rs778418522 0.00005
NM_003849.4(SUCLG1):c.397A>T (p.Ile133Phe) rs575207227 0.00005
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser) rs187631645 0.00005
NM_007347.5(AP4E1):c.992C>T (p.Ser331Leu) rs199740395 0.00005
NM_014444.5(TUBGCP4):c.998G>A (p.Arg333His) rs183013671 0.00005
NM_015713.5(RRM2B):c.685-4T>G rs202172163 0.00005
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) rs148773959 0.00005
NM_018943.3(TUBA8):c.1093G>A (p.Gly365Arg) rs142396178 0.00005
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val) rs753533374 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_144639.3(UROC1):c.1286G>A (p.Arg429His) rs201724997 0.00005
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582 0.00004
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu) rs200644872 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225 0.00004
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln) rs796202631 0.00004
NM_001039770.3(TMPPE):c.-398A>G rs369627064 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001064.4(TKT):c.898A>C (p.Asn300His) rs143676012 0.00004
NM_001098.3(ACO2):c.718G>A (p.Gly240Ser) rs764138297 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001244008.2(KIF1A):c.1684+17G>A rs574718771 0.00004
NM_001267550.2(TTN):c.83902C>T (p.Pro27968Ser) rs541254027 0.00004
NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met) rs760409547 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter) rs770634248 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001365536.1(SCN9A):c.4177G>A (p.Gly1393Arg) rs200371160 0.00004
NM_001367561.1(DOCK7):c.5724+18A>G rs377719435 0.00004
NM_001374828.1(ARID1B):c.6641T>C (p.Ile2214Thr) rs878852997 0.00004
NM_001379029.1(CERT1):c.1616C>T (p.Pro539Leu) rs756491643 0.00004
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met) rs374871163 0.00004
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002894.3(RBBP8):c.1771C>T (p.Arg591Cys) rs370311825 0.00004
NM_003482.4(KMT2D):c.4570C>T (p.Arg1524Cys) rs1411795103 0.00004
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_003995.4(NPR2):c.2321C>T (p.Ala774Val) rs369154896 0.00004
NM_004153.4(ORC1):c.2013G>C (p.Leu671=) rs140536267 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004525.3(LRP2):c.4544C>T (p.Ala1515Val) rs370313238 0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004667.6(HERC2):c.2945A>G (p.His982Arg) rs748362699 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472 0.00004
NM_005676.5(RBM10):c.201+20C>T rs371753657 0.00004
NM_005908.4(MANBA):c.1318-1G>T rs374545788 0.00004
NM_006015.6(ARID1A):c.5228C>T (p.Thr1743Met) rs528936858 0.00004
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_013275.6(ANKRD11):c.6362C>T (p.Ala2121Val) rs747992186 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val) rs750060978 0.00004
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser) rs387906990 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) rs139440017 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020812.4(DOCK6):c.1237C>G (p.Arg413Gly) rs763398919 0.00004
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met) rs746749336 0.00004
NM_020987.5(ANK3):c.1295C>T (p.Ser432Leu) rs377696913 0.00004
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys) rs375165169 0.00004
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=) rs747200195 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 0.00004
NM_022095.4(ZNF335):c.2158C>T (p.Arg720Cys) rs750099536 0.00004
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser) rs199705453 0.00004
NM_022455.5(NSD1):c.708G>C (p.Gln236His) rs28932175 0.00004
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn) rs368225621 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_145262.4(GLYCTK):c.705+3A>G rs199697098 0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn) rs781031440 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000124.4(ERCC6):c.3643G>A (p.Ala1215Thr) rs377041857 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) rs765070826 0.00003
NM_000158.4(GBE1):c.1460A>G (p.Asp487Gly) rs747404758 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000789.4(ACE):c.2881G>C (p.Ala961Pro) rs779833433 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001136193.2(FASTKD2):c.1723A>G (p.Asn575Asp) rs773832405 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001374828.1(ARID1B):c.350T>C (p.Leu117Pro) rs1057520140 0.00003
NM_001493.3(GDI1):c.226C>G (p.Leu76Val) rs373515131 0.00003
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793 0.00003
NM_001770.6(CD19):c.835+3A>G rs374608144 0.00003
NM_002025.4(AFF2):c.1640G>A (p.Gly547Asp) rs147098255 0.00003
NM_002055.5(GFAP):c.590T>A (p.Ile197Asn) rs779356682 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_003119.4(SPG7):c.445G>A (p.Ala149Thr) rs777638594 0.00003
NM_003482.4(KMT2D):c.3118T>C (p.Ser1040Pro) rs970636133 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004667.6(HERC2):c.5132C>T (p.Thr1711Ile) rs751891639 0.00003
NM_004984.4(KIF5A):c.2971C>A (p.Gln991Lys) rs1057520171 0.00003
NM_005559.4(LAMA1):c.4180C>T (p.Arg1394Cys) rs377516549 0.00003
NM_005921.2(MAP3K1):c.4036G>A (p.Val1346Ile) rs937257820 0.00003
NM_006059.4(LAMC3):c.4348C>T (p.Arg1450Cys) rs201785610 0.00003
NM_006766.5(KAT6A):c.3982A>G (p.Lys1328Glu) rs199709098 0.00003
NM_013275.6(ANKRD11):c.2216C>T (p.Ser739Leu) rs146294483 0.00003
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys) rs200899521 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_014804.3(KIAA0753):c.2768C>T (p.Pro923Leu) rs371406853 0.00003
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp) rs770098954 0.00003
NM_015338.6(ASXL1):c.3800C>A (p.Thr1267Asn) rs368889231 0.00003
NM_016824.5(ADD3):c.2101_2103del (p.Lys701del) rs765847432 0.00003
NM_017721.5(CC2D1A):c.1940+5G>A rs753866885 0.00003
NM_018060.4(IARS2):c.1151T>C (p.Met384Thr) rs182541053 0.00003
NM_018109.4(MTPAP):c.227G>A (p.Arg76Gln) rs765906039 0.00003
NM_020822.3(KCNT1):c.600+9C>T rs1287458024 0.00003
NM_020921.4(NIN):c.3635C>T (p.Ala1212Val) rs548569136 0.00003
NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys) rs878853090 0.00003
NM_022455.5(NSD1):c.3307G>A (p.Asp1103Asn) rs746210838 0.00003
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772 0.00003
NM_022835.3(PLEKHG2):c.378+7C>T rs368379229 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys) rs367898339 0.00003
NM_032322.4(RNF135):c.389G>A (p.Ser130Asn) rs767119938 0.00003
NM_032357.4(CCDC115):c.1A>G (p.Met1Val) rs752919660 0.00003
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) rs368164663 0.00003
NM_181303.2(NLGN3):c.2353C>T (p.Arg785Cys) rs746346104 0.00003
NM_199242.3(UNC13D):c.2761C>T (p.Arg921Cys) rs373079371 0.00003
NM_201269.3(ZNF644):c.3295C>T (p.Arg1099Cys) rs762658610 0.00003
NM_203447.4(DOCK8):c.1528C>A (p.Leu510Met) rs771479299 0.00003
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000169.3(GLA):c.1192G>A (p.Glu398Lys) rs104894844 0.00002
NM_000170.3(GLDC):c.1750C>T (p.Pro584Ser) rs1001664445 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145 0.00002
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) rs757966746 0.00002
NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met) rs199699339 0.00002
NM_001040716.2(PC):c.1354G>A (p.Val452Ile) rs779387492 0.00002
NM_001080432.3(FTO):c.1365G>T (p.Arg455Ser) rs376381270 0.00002
NM_001080517.3(SETD5):c.382A>G (p.Ile128Val) rs780263494 0.00002
NM_001145252.3(CFP):c.236G>A (p.Arg79Gln) rs761962858 0.00002
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727 0.00002
NM_001374828.1(ARID1B):c.5914C>A (p.Pro1972Thr) rs779490460 0.00002
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn) rs767513098 0.00002
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001614.5(ACTG1):c.124-16G>A rs782370155 0.00002
NM_001673.5(ASNS):c.728T>C (p.Val243Ala) rs148111963 0.00002
NM_002582.4(PARN):c.1513C>T (p.Arg505Trp) rs375185166 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_003072.5(SMARCA4):c.4724G>A (p.Ser1575Asn) rs878854229 0.00002
NM_003482.4(KMT2D):c.6919G>A (p.Val2307Ile) rs763955557 0.00002
NM_003482.4(KMT2D):c.7229G>A (p.Arg2410Gln) rs587778466 0.00002
NM_003738.5(PTCH2):c.2662G>A (p.Asp888Asn) rs745445438 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys) rs749309213 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_005045.4(RELN):c.9764-16G>C rs774477346 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005257.6(GATA6):c.857G>A (p.Gly286Asp) rs1024878588 0.00002
NM_005787.6(ALG3):c.14T>C (p.Leu5Pro) rs878853028 0.00002
NM_005993.5(TBCD):c.176G>A (p.Arg59Gln) rs911971278 0.00002
NM_006182.4(DDR2):c.383G>A (p.Arg128His) rs149507401 0.00002
NM_007215.4(POLG2):c.796-16A>C rs1555668382 0.00002
NM_012310.5(KIF4A):c.2183G>A (p.Arg728Gln) rs199529123 0.00002
NM_012330.4(KAT6B):c.2248C>A (p.Leu750Met) rs368081386 0.00002
NM_012463.4(ATP6V0A2):c.482T>G (p.Leu161Trp) rs750042310 0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424 0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val) rs730881178 0.00002
NM_020435.4(GJC2):c.17G>A (p.Trp6Ter) rs878853083 0.00002
NM_020754.4(ARHGAP31):c.1286C>T (p.Pro429Leu) rs776509429 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032119.4(ADGRV1):c.13231+4G>C rs778080956 0.00002
NM_032608.7(MYO18B):c.1136G>A (p.Arg379Gln) rs750078923 0.00002
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) rs878853107 0.00002
NM_152383.5(DIS3L2):c.1826G>A (p.Arg609Gln) rs774228906 0.00002
NM_194248.3(OTOF):c.2882A>G (p.Gln961Arg) rs1358025747 0.00002
NM_199242.3(UNC13D):c.271G>A (p.Val91Met) rs374308904 0.00002
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln) rs1018788708 0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000055.4(BCHE):c.1685-8T>G rs1004662085 0.00001
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) rs760554566 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000106.6(CYP2D6):c.963_981del (p.Met321fs) rs730882170 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725 0.00001
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter) rs781163821 0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 0.00001
NM_000159.4(GCDH):c.722G>A (p.Gly241Glu) rs769520999 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter) rs1057520098 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000489.6(ATRX):c.3287T>G (p.Leu1096Trp) rs1337990307 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp) rs1057520187 0.00001
NM_000548.5(TSC2):c.3397+15C>T rs202246408 0.00001
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys) rs367823977 0.00001
NM_000814.6(GABRB3):c.136A>C (p.Lys46Gln) rs1057520112 0.00001
NM_000900.5(MGP):c.62-638G>C rs1057520189 0.00001
NM_001017995.3(SH3PXD2B):c.250C>T (p.Arg84Ter) rs61755907 0.00001
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215 0.00001
NM_001039591.3(USP9X):c.640C>G (p.Pro214Ala) rs878853105 0.00001
NM_001040142.2(SCN2A):c.1598G>A (p.Arg533Lys) rs1057520163 0.00001
NM_001040716.2(PC):c.3429G>T (p.Met1143Ile) rs1057520117 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042681.2(RERE):c.3248G>T (p.Gly1083Val) rs370962200 0.00001
NM_001077350.3(NPRL3):c.1247C>T (p.Pro416Leu) rs746082270 0.00001
NM_001080414.4(CCDC88C):c.4618G>C (p.Gly1540Arg) rs752041919 0.00001
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634 0.00001
NM_001126049.2(KLLN):c.137T>G (p.Phe46Cys) rs1199180487 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter) rs878853036 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044 0.00001
NM_001145809.2(MYH14):c.407C>T (p.Thr136Met) rs1057520092 0.00001
NM_001145809.2(MYH14):c.94C>T (p.Arg32Cys) rs549293063 0.00001
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) rs766614772 0.00001
NM_001160372.4(TRAPPC9):c.71G>A (p.Gly24Asp) rs773134795 0.00001
NM_001163435.3(TBCK):c.1039C>T (p.Arg347Ter) rs762552974 0.00001
NM_001163435.3(TBCK):c.1220+1G>A rs760715215 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001166114.2(PNPLA6):c.3816+1G>A rs1490826010 0.00001
NM_001197104.2(KMT2A):c.6521C>T (p.Thr2174Ile) rs781855910 0.00001
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu) rs184939069 0.00001
NM_001271.4(CHD2):c.1052+14C>G rs146319346 0.00001
NM_001278064.2(GRM1):c.3040C>T (p.Pro1014Ser) rs761033890 0.00001
NM_001292063.2(OTOG):c.1063C>T (p.Pro355Ser) rs1057520124 0.00001
NM_001348768.2(HECW2):c.4436G>A (p.Arg1479Gln) rs143511416 0.00001
NM_001348768.2(HECW2):c.700A>G (p.Thr234Ala) rs1057520120 0.00001
NM_001365088.1(SLC12A6):c.1457C>T (p.Thr486Met) rs748315324 0.00001
NM_001365088.1(SLC12A6):c.1614T>G (p.Phe538Leu) rs1057520062 0.00001
NM_001365308.1(BMPER):c.134-17T>C rs542452381 0.00001
NM_001365999.1(SZT2):c.4618G>A (p.Asp1540Asn) rs1057520164 0.00001
NM_001365999.1(SZT2):c.616G>A (p.Asp206Asn) rs764100978 0.00001
NM_001367561.1(DOCK7):c.2279G>A (p.Arg760Gln) rs775510896 0.00001
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser) rs900079494 0.00001
NM_001369.3(DNAH5):c.11017T>C (p.Ser3673Pro) rs1250778700 0.00001
NM_001371279.1(REEP1):c.198T>C (p.Tyr66=) rs1444613668 0.00001
NM_001377.3(DYNC2H1):c.10874C>T (p.Ala3625Val) rs775630937 0.00001
NM_001378183.1(PIEZO2):c.3848A>G (p.Asn1283Ser) rs878853021 0.00001
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr) rs780894681 0.00001
NM_001379029.1(CERT1):c.370G>C (p.Glu124Gln) rs995534431 0.00001
NM_001382391.1(CSPP1):c.967G>A (p.Asp323Asn) rs765645108 0.00001
NM_001384732.1(CPLANE1):c.1281T>A (p.Asp427Glu) rs1416115425 0.00001
NM_001555.5(IGSF1):c.1718-24T>G rs757277380 0.00001
NM_001614.5(ACTG1):c.123+8G>A rs536476533 0.00001
NM_001614.5(ACTG1):c.422_423insGACA (p.Leu142fs) rs1555666808 0.00001
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs) rs773348232 0.00001
NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys) rs759188040 0.00001
NM_002025.4(AFF2):c.926T>C (p.Ile309Thr) rs782518861 0.00001
NM_002156.5(HSPD1):c.1426G>T (p.Ala476Ser) rs375600770 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1873A>G (p.Thr625Ala) rs779184327 0.00001
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) rs1057520161 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe) rs1057520203 0.00001
NM_003124.5(SPR):c.655C>T (p.Arg219Ter) rs779204655 0.00001
NM_003235.5(TG):c.217G>A (p.Val73Met) rs780845778 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003737.4(DCHS1):c.7519A>G (p.Thr2507Ala) rs772780083 0.00001
NM_004092.4(ECHS1):c.7G>A (p.Ala3Thr) rs1057520096 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004426.3(PHC1):c.1598G>A (p.Arg533Gln) rs878853029 0.00001
NM_004463.3(FGD1):c.910G>A (p.Gly304Arg) rs749593888 0.00001
NM_004525.3(LRP2):c.17C>A (p.Ala6Glu) rs878853100 0.00001
NM_004667.6(HERC2):c.1083C>T (p.His361=) rs142059352 0.00001
NM_004715.5(CTDP1):c.1609G>A (p.Glu537Lys) rs146547758 0.00001
NM_004818.3(DDX23):c.1583G>A (p.Arg528His) rs1938420751 0.00001
NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) rs199422224 0.00001
NM_005050.4(ABCD4):c.1084G>A (p.Glu362Lys) rs775602421 0.00001
NM_005188.4(CBL):c.125A>T (p.His42Leu) rs730880433 0.00001
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val) rs1057520147 0.00001
NM_005378.6(MYCN):c.790+16G>A rs1360652641 0.00001
NM_005506.4(SCARB2):c.241C>T (p.Pro81Ser) rs878853018 0.00001
NM_005559.4(LAMA1):c.1909G>A (p.Val637Met) rs1057520202 0.00001
NM_005763.4(AASS):c.1708A>G (p.Lys570Glu) rs749306292 0.00001
NM_005787.6(ALG3):c.1193C>T (p.Thr398Ile) rs889118173 0.00001
NM_005787.6(ALG3):c.194C>T (p.Ala65Val) rs1336047164 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006279.5(ST3GAL3):c.724A>G (p.Ile242Val) rs753554208 0.00001
NM_006662.3(SRCAP):c.3671G>A (p.Arg1224His) rs201658767 0.00001
NM_006766.5(KAT6A):c.2459A>G (p.Glu820Gly) rs769304001 0.00001
NM_006766.5(KAT6A):c.3742G>A (p.Glu1248Lys) rs761598652 0.00001
NM_006950.3(SYN1):c.1183A>G (p.Ile395Val) rs185229386 0.00001
NM_013236.4(ATXN10):c.948dup (p.Thr317fs) rs772813026 0.00001
NM_014141.6(CNTNAP2):c.1037A>G (p.Asn346Ser) rs748787013 0.00001
NM_014254.3(RXYLT1):c.70G>C (p.Ala24Pro) rs377034865 0.00001
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) rs1057520170 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014639.4(SKIC3):c.358A>C (p.Lys120Gln) rs766358081 0.00001
NM_014795.4(ZEB2):c.388A>G (p.Ile130Val) rs1057520175 0.00001
NM_014862.4(ARNT2):c.2113G>T (p.Asp705Tyr) rs774221151 0.00001
NM_015028.4(TNIK):c.3707G>A (p.Gly1236Asp) rs1057520155 0.00001
NM_015158.5(KANK1):c.2479A>G (p.Ile827Val) rs1057520089 0.00001
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter) rs200870836 0.00001
NM_015570.4(AUTS2):c.3298C>G (p.Pro1100Ala) rs763284520 0.00001
NM_015909.4(NBAS):c.5741G>A (p.Arg1914His) rs369698072 0.00001
NM_016648.4(LARP7):c.552+1G>T rs200544616 0.00001
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn) rs1290954710 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017780.4(CHD7):c.7830+15G>A rs776953479 0.00001
NM_018136.5(ASPM):c.7082C>G (p.Ser2361Cys) rs368151024 0.00001
NM_019892.6(INPP5E):c.1549+17G>A rs776348228 0.00001
NM_020442.6(VARS2):c.1660C>T (p.Arg554Trp) rs377324441 0.00001
NM_020461.4(TUBGCP6):c.407A>G (p.Asn136Ser) rs776400082 0.00001
NM_020754.4(ARHGAP31):c.1025G>A (p.Arg342Gln) rs1387170495 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_021074.5(NDUFV2):c.626A>G (p.Lys209Arg) rs775174756 0.00001
NM_022081.6(HPS4):c.2036G>A (p.Ser679Asn) rs761057923 0.00001
NM_022095.4(ZNF335):c.1356-1G>A rs1234838549 0.00001
NM_022095.4(ZNF335):c.3677A>G (p.Tyr1226Cys) rs1057520125 0.00001
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg) rs140839289 0.00001
NM_024408.4(NOTCH2):c.4178G>A (p.Arg1393His) rs587735797 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333 0.00001
NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr) rs144653284 0.00001
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) rs878853009 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_030653.4(DDX11):c.1523T>G (p.Leu508Arg) rs1057520196 0.00001
NM_030928.4(CDT1):c.1436G>T (p.Cys479Phe) rs758810157 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_032608.7(MYO18B):c.7278G>T (p.Trp2426Cys) rs1057520138 0.00001
NM_033028.5(BBS4):c.2T>C (p.Met1Thr) rs1302879683 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11745+4C>T rs751045565 0.00001
NM_152564.5(VPS13B):c.5087T>C (p.Val1696Ala) rs878852995 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys) rs752903016 0.00001
NM_153026.3(PRICKLE1):c.2037A>C (p.Arg679Ser) rs1057520141 0.00001
NM_153603.4(COG7):c.1135C>G (p.Leu379Val) rs878853109 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153816.6(SNX14):c.1608+1G>C rs749656742 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_173560.4(RFX6):c.1606A>G (p.Met536Val) rs752212354 0.00001
NM_181507.2(HPS5):c.2470G>A (p.Glu824Lys) rs368884599 0.00001
NM_182476.3(COQ6):c.487G>A (p.Val163Met) rs375128599 0.00001
NM_182746.3(MCM4):c.5C>G (p.Ser2Trp) rs749871553 0.00001
NM_182914.3(SYNE2):c.13336G>A (p.Gly4446Ser) rs1057520190 0.00001
NM_198525.3(KIF7):c.3481G>A (p.Glu1161Lys) rs567337105 0.00001
NM_207118.3(GTF2H5):c.-35+6T>G rs878853085 0.00001
NM_207346.3(TSEN54):c.1078G>A (p.Ala360Thr) rs374200799 0.00001
NM_207346.3(TSEN54):c.181G>A (p.Glu61Lys) rs1438493791 0.00001
NM_207361.6(FREM2):c.5810C>T (p.Ser1937Phe) rs1020313300 0.00001
NC_012920.1(MT-ATP6):m.8616G>T rs41427749
NC_012920.1(MT-ATP6):m.8704A>G rs878852994
NC_012920.1(MT-ATP6):m.8803A>T rs878853020
NC_012920.1(MT-ATP6):m.8932C>T rs878853013
NC_012920.1(MT-ATP6):m.9091A>G rs1057520079
NC_012920.1(MT-ATP8):m.8382C>T rs1556423437
NC_012920.1(MT-ATP8):m.8519G>A rs878853091
NC_012920.1(MT-CO1):m.6120A>G rs878853023
NC_012920.1(MT-CO1):m.6260G>A rs201395766
NC_012920.1(MT-CO1):m.6261G>A rs201262114
NC_012920.1(MT-CO1):m.6734G>A rs41413745
NC_012920.1(MT-CO1):m.7175T>C rs28358874
NC_012920.1(MT-CO3):m.9861T>C rs878853060
NC_012920.1(MT-CO3):m.9966G>A rs200809063
NC_012920.1(MT-CYB):m.12239C>T rs376062400
NC_012920.1(MT-CYB):m.1452T>C rs1556422531
NC_012920.1(MT-CYB):m.15071T>C rs199999794
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-CYB):m.15746A>G rs386829260
NC_012920.1(MT-CYB):m.15777G>A rs879182710
NC_012920.1(MT-CYB):m.15848A>G rs1057520206
NC_012920.1(MT-CYB):m.1836A>G rs878853073
NC_012920.1(MT-CYB):m.5553T>C rs878853053
NC_012920.1(MT-CYB):m.869C>T rs386828880
NC_012920.1(MT-ND1):m.3447A>G rs878853074
NC_012920.1(MT-ND1):m.3796A>T rs28357970
NC_012920.1(MT-ND1):m.3849G>A rs878853081
NC_012920.1(MT-ND1):m.3990C>T rs878853005
NC_012920.1(MT-ND1):m.4132G>A rs1057520201
NC_012920.1(MT-ND1):m.4219G>A rs878853008
NC_012920.1(MT-ND3):m.10084T>C rs41487950
NC_012920.1(MT-ND3):m.10321T>C rs193302928
NC_012920.1(MT-ND5):m.12346C>T rs200279497
NC_012920.1(MT-ND5):m.14000T>A rs28359185
NC_012920.1(MT-ND5):m.14002A>G rs386829198
NC_012920.1(MT-ND6):m.14393A>G rs878853104
NC_012920.1(MT-TH):m.12153C>T rs376606918
NC_012920.1(MT-TH):m.12175T>C rs1057520099
NC_012920.1(MT-TQ):m.4388A>G rs375986475
NC_012920.1:m.10335T>C rs878853041
NC_012920.1:m.10499A>G rs1057520074
NC_012920.1:m.10632T>C rs878888873
NC_012920.1:m.10798A>G rs1556423866
NC_012920.1:m.11167A>G rs377109096
NC_012920.1:m.11428C>T rs1057520176
NC_012920.1:m.11560A>G rs878853103
NC_012920.1:m.11590A>G rs370318850
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.11899T>C rs28718242
NC_012920.1:m.12432C>T rs878853046
NC_012920.1:m.12493A>G rs1556424118
NC_012920.1:m.12681T>C rs878853080
NC_012920.1:m.12810A>G rs28359174
NC_012920.1:m.12903T>C rs878853027
NC_012920.1:m.13212C>T rs1556424241
NC_012920.1:m.13485A>G rs28359176
NC_012920.1:m.13488T>C rs878853050
NC_012920.1:m.13635T>C rs878853075
NC_012920.1:m.13722A>G rs386829190
NC_012920.1:m.13926T>C rs878853047
NC_012920.1:m.14022A>G rs878853101
NC_012920.1:m.14040G>A rs57180882
NC_012920.1:m.14076A>G rs1556424380
NC_012920.1:m.14133A>G rs879100848
NC_012920.1:m.14148A>G rs28357668
NC_012920.1:m.14470T>A rs3135030
NC_012920.1:m.14476G>A rs1057520103
NC_012920.1:m.14911C>T rs28357683
NC_012920.1:m.15191T>C rs878912989
NC_012920.1:m.15217G>A rs193302989
NC_012920.1:m.15235A>G rs201250154
NC_012920.1:m.15262T>C rs1057520097
NC_012920.1:m.15470T>C rs527236187
NC_012920.1:m.15487A>G rs28357370
NC_012920.1:m.15511T>C rs527236188
NC_012920.1:m.15514T>C rs878853086
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.15833C>T rs41504845
NC_012920.1:m.2394delA rs878852991
NC_012920.1:m.2483T>C rs28445203
NC_012920.1:m.3169C>T rs1057520173
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3396T>C rs374875201
NC_012920.1:m.3498C>T rs878982719
NC_012920.1:m.3582C>T rs878853059
NC_012920.1:m.3843A>G rs28357971
NC_012920.1:m.4023T>C rs878853034
NC_012920.1:m.4137C>T rs368539747
NC_012920.1:m.4218T>C rs878853061
NC_012920.1:m.4472T>C rs1057520067
NC_012920.1:m.4688T>C rs878853056
NC_012920.1:m.4733T>C rs878853072
NC_012920.1:m.4768T>C rs878853032
NC_012920.1:m.4823T>C rs878853062
NC_012920.1:m.5033A>G rs878853043
NC_012920.1:m.5105T>C rs1057520057
NC_012920.1:m.5177G>A rs1556422960
NC_012920.1:m.5302T>C rs878853115
NC_012920.1:m.5465T>C rs3902405
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NC_012920.1:m.6278T>C rs1556423104
NC_012920.1:m.6299A>G rs1057520195
NC_012920.1:m.6554C>T rs878853064
NC_012920.1:m.6674T>C rs878895466
NC_012920.1:m.6719T>C rs28358872
NC_012920.1:m.7220T>C rs1556423250
NC_012920.1:m.7789G>A rs386829014
NC_012920.1:m.7819C>A rs878853024
NC_012920.1:m.7861T>C rs368623956
NC_012920.1:m.7867C>T rs9783079
NC_012920.1:m.8047T>C rs386829022
NC_012920.1:m.8260T>C rs1057520115
NC_012920.1:m.8410C>T rs200715932
NC_012920.1:m.8527A>G rs878853003
NC_012920.1:m.8538T>C rs878853010
NC_012920.1:m.8540T>C rs878852987
NC_012920.1:m.8565A>G rs878853052
NC_012920.1:m.8619C>T rs878853038
NC_012920.1:m.8781C>A rs369034118
NC_012920.1:m.8790G>A rs878853063
NC_012920.1:m.8816A>G rs1057520102
NC_012920.1:m.8818C>T rs878853097
NC_012920.1:m.8856G>A rs878853078
NC_012920.1:m.8865G>A rs386829056
NC_012920.1:m.8886G>A rs386829057
NC_012920.1:m.8943C>T rs1057520204
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9006A>G rs1556423587
NC_012920.1:m.9072A>G rs6650106
NC_012920.1:m.9152T>C rs878853096
NC_012920.1:m.9281C>T rs878853042
NC_012920.1:m.9353C>T rs878852986
NC_012920.1:m.9368A>G rs386829076
NC_012920.1:m.9467T>C rs878853040
NC_012920.1:m.9509T>C rs375478739
NC_012920.1:m.9545A>G rs878853022
NC_012920.1:m.9947G>A rs370688668
NM_000016.6(ACADM):c.849+1G>A rs878853106
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) rs1057520091
NM_000036.3(AMPD1):c.382-6dup rs727503806
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) rs746853821
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.1804T>G (p.Cys602Gly) rs878853033
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3403-15dup rs1555091083
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter) rs67273048
NM_000054.7(AVPR2):c.392T>C (p.Leu131Pro) rs878853079
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) rs767271426
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000095.3(COMP):c.1279_1291del (p.Gly427fs) rs878853098
NM_000106.6(CYP2D6):c.181-140del rs267608275
NM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu) rs73419912
NM_000124.4(ERCC6):c.2297G>T (p.Cys766Phe) rs878853067
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly) rs1057520131
NM_000138.5(FBN1):c.2964_2971del (p.Trp988_Glu991delinsTer) rs878853095
NM_000138.5(FBN1):c.3563C>A (p.Ser1188Ter) rs1057520181
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.8520_8523del (p.Lys2840fs) rs1555393513
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000162.5(GCK):c.171G>T (p.Met57Ile) rs1057520109
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000170.3(GLDC):c.2791G>A (p.Ala931Thr) rs1057520185
NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu) rs62636581
NM_000171.4(GLRA1):c.373G>A (p.Asp125Asn) rs1057520186
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000190.4(HMBS):c.33+123_33+135del rs549270240
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala) rs74154475
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000206.3(IL2RG):c.258_261dup (p.His88fs) rs1556330940
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000214.3(JAG1):c.387+2T>C rs1555830919
NM_000217.3(KCNA1):c.724G>C (p.Ala242Pro) rs28933381
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000252.3(MTM1):c.137-3T>G rs878853069
NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del) rs878853108
NM_000254.3(MTR):c.2738A>T (p.Tyr913Phe) rs1553327531
NM_000257.4(MYH7):c.2191C>A (p.Pro731Thr) rs727504299
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.1615del (p.Glu539fs) rs878853847
NM_000273.3(GPR143):c.2T>C (p.Met1Thr) rs1057520200
NM_000276.4(OCRL):c.1095del (p.His365fs) rs1057520078
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000278.5(PAX2):c.43+5G>T rs878853000
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000284.4(PDHA1):c.*1193CA[1] rs202102403
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
NM_000284.4(PDHA1):c.57+2410dup rs754393427
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000314.8(PTEN):c.254-1G>A rs1057520208
NM_000314.8(PTEN):c.531T>G (p.Tyr177Ter) rs878853012
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro) rs1057520169
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000381.4(MID1):c.661-22_661-21dup rs375668839
NM_000381.4(MID1):c.757-5745G>A rs111428432
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del) rs758495000
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) rs878853004
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn) rs138986885
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer) rs1553412246
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter) rs878852988
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000533.5(PLP1):c.388C>T (p.His130Tyr) rs878853076
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter) rs1555770968
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile) rs45498892
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000682.7(ADRA2B):c.276C>G (p.Asp92Glu) rs1057520077
NM_000789.4(ACE):c.1611GTTCCA[3] (p.537QF[3]) rs771053807
NM_000814.6(GABRB3):c.241-20887TA[5] rs551896139
NM_001001557.4(GDF6):c.73C>T (p.Gln25Ter) rs878853102
NM_001003694.2(BRPF1):c.953G>A (p.Arg318His) rs1553695038
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001008388.5(CISD2):c.224T>C (p.Ile75Thr) rs1057520144
NM_001009999.3(KDM1A):c.1003G>T (p.Gly335Ter) rs1553129293
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001029882.3(AHDC1):c.-971A>G rs878853068
NM_001029891.3(PGAM4):c.649G>A (p.Val217Ile) rs376654190
NM_001033044.4(GLUL):c.515G>C (p.Gly172Ala) rs1057520087
NM_001034116.2(EIF2B4):c.302G>T (p.Arg101Leu) rs368061442
NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del) rs201730068
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del) rs760332126
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del) rs200955614
NM_001035.3(RYR2):c.13804C>T (p.Arg4602Ter) rs878853077
NM_001035.3(RYR2):c.1775G>T (p.Gly592Val) rs794728724
NM_001036.6(RYR3):c.13787C>T (p.Ser4596Phe) rs1555492911
NM_001036.6(RYR3):c.6125A>G (p.Asn2042Ser) rs116926961
NM_001039141.3(TRIOBP):c.4062+2T>C rs1057520081
NM_001039591.3(USP9X):c.3149-8dup rs758704238
NM_001039591.3(USP9X):c.5395C>T (p.Arg1799Ter) rs1555933937
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001040142.2(SCN2A):c.2044A>G (p.Lys682Glu) rs1057520113
NM_001040142.2(SCN2A):c.3691T>C (p.Tyr1231His) rs1298081979
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042475.3(CEP85L):c.3G>T (p.Met1Ile) rs2115386562
NM_001042492.3(NF1):c.6642+11C>G rs375446476
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.6912_6916del (p.Leu2304_Leu2305insTer) rs878853025
NM_001042545.2(LTBP4):c.2402C>T (p.Ala801Val) rs532233295
NM_001042681.2(RERE):c.3064C>G (p.Pro1022Ala) rs202121539
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu) rs878853011
NM_001042681.2(RERE):c.39GGACCG[3] (p.14DR[5]) rs201665914
NM_001048166.1(STIL):c.1778C>G (p.Pro593Arg) rs777711384
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001077365.2(POMT1):c.2004-1_2005del rs1057520142
NM_001077653.2(TBX20):c.785C>G (p.Thr262Arg) rs747369702
NM_001079802.2(FKTN):c.369+1G>T rs764125009
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001081550.2(THOC2):c.769-20dup rs201356571
NM_001082538.3(TCTN1):c.1636-18TC[2] rs201913681
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001083614.2(EARS2):c.809A>G (p.His270Arg) rs878853014
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001098511.3(KIF2A):c.335-9dup rs762620321
NM_001104631.2(PDE4D):c.1288-8dup rs143090133
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110556.2(FLNA):c.6705A>C (p.Glu2235Asp) rs1057520156
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr) rs1057520135
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer) rs1057520154
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_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127381.1(PPP2R2B):c.-183_-181GCA[17] rs10591869
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127644.2(GABRA1):c.560-20T>C rs202046572
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001134407.3(GRIN2A):c.142G>A (p.Glu48Lys) rs1555491526
NM_001134407.3(GRIN2A):c.1895C>T (p.Ser632Phe) rs1057520116
NM_001134407.3(GRIN2A):c.2258G>C (p.Gly753Ala) rs1555488124
NM_001134407.3(GRIN2A):c.421A>C (p.Thr141Pro) rs1057520114
NM_001134673.4(NFIA):c.1255-6_1255-5del rs58081092
NM_001134831.2(AHI1):c.1803C>A (p.His601Gln) rs375537062
NM_001135091.2(MUC15):c.137C>G (p.Ser46Trp) rs293979
NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser) rs1573010519
NM_001136046.3(ZMYND15):c.1838-14CT[2] rs575052082
NM_001136193.2(FASTKD2):c.1435G>T (p.Val479Leu) rs145043229
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001142416.2(AIMP1):c.362_366del (p.Lys121fs) rs1057520101
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001145113.3(MYADML2):c.880G>T (p.Asp294Tyr) rs1555624118
NM_001145715.3(KPNA7):c.1015C>A (p.Pro339Thr) rs587777538
NM_001160372.4(TRAPPC9):c.-6T>C rs771842366
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.2710-19dup rs112408409
NM_001161352.2(KCNMA1):c.378+808C>A rs116144703
NM_001163809.2(WDR81):c.1543C>T (p.Pro515Ser) rs1057520105
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001165963.4(SCN1A):c.3888G>T (p.Leu1296Phe) rs998325208
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001174147.2(LMX1B):c.285_289del (p.Tyr95_Arg97delinsTer) rs1057520178
NM_001184.4(ATR):c.5739-14_5739-7del rs878853001
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.328A>G (p.Met110Val) rs1057520139
NM_001195248.2(APTX):c.771-13_771-12dup rs34600530
NM_001197104.2(KMT2A):c.11230C>T (p.Arg3744Ter) rs1057520053
NM_001197104.2(KMT2A):c.11317C>T (p.Leu3773Phe) rs1555052896
NM_001197104.2(KMT2A):c.2982_2984del (p.Ser997del) rs1057520073
NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs) rs1057520177
NM_001199563.2(BVES):c.731_734del (p.Phe244fs) rs759745220
NM_001205254.2(OCLN):c.922G>A (p.Val308Met) rs369518478
NM_001206999.2(CIT):c.1122dup (p.Phe375fs) rs1057520205
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr) rs1057520194
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.49345+23dup rs566373563
NM_001267550.2(TTN):c.50048T>A (p.Ile16683Asn) rs1057520148
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001270508.2(TNFAIP3):c.727T>C (p.Cys243Arg) rs1554225021
NM_001271.4(CHD2):c.2999G>A (p.Arg1000Gln) rs777710376
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001278064.2(GRM1):c.3178A>G (p.Asn1060Asp) rs755308114
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.992-2A>G rs878853099
NM_001278716.2(FBXL4):c.1440dup (p.Leu481fs) rs879255542
NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del) rs878853112
NM_001291415.2(KDM6A):c.2859-7_2859-5del rs10605935
NM_001292063.2(OTOG):c.8191-12C>A rs11828989
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303052.2(MYT1L):c.3080+12C>A rs188284453
NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) rs104894073
NM_001317778.2(SFTPC):c.115G>A (p.Val39Met) rs183533911
NM_001320752.2(STS):c.259+8_259+10del rs773065157
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001329943.3(KIAA0586):c.2945-9dup rs748594194
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.4501C>A (p.Gln1501Lys) rs1057520149
NM_001330311.2(DVL1):c.605+2TG[2] rs573517540
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr) rs878852989
NM_001353921.2(ARHGEF9):c.1148T>C (p.Ile383Thr) rs1057520158
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001356.5(DDX3X):c.202_205dup (p.Tyr69fs) rs1555952659
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.848A>T (p.Asp283Val) rs1557230040
NM_001363.5(DKC1):c.1345C>G (p.Arg449Gly) rs878853071
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001365276.2(TNXB):c.1101C>G (p.Asp367Glu) rs9380279
NM_001365276.2(TNXB):c.3221C>A (p.Thr1074Asn) rs867358435
NM_001365536.1(SCN9A):c.2135C>T (p.Pro712Leu) rs867106113
NM_001365588.1(NLGN4Y):c.260G>A (p.Arg87Gln) rs1556057385
NM_001365999.1(SZT2):c.5905-13C>G rs200996082
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_001367561.1(DOCK7):c.1283-14del rs541344421
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.7487G>A (p.Arg2496Gln) rs878852985
NM_001367721.1(CASK):c.1033+1G>A rs1556000257
NM_001368397.1(FRMPD4):c.721G>C (p.Gly241Arg) rs1555895100
NM_001369.3(DNAH5):c.5272-15dup rs35337694
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001372044.2(SHANK3):c.1257+4A>G rs1555906705
NM_001372044.2(SHANK3):c.3322G>A (p.Gly1108Arg) rs1555910097
NM_001372066.1(TFAP2A):c.544G>A (p.Val182Met) rs1208782432
NM_001374828.1(ARID1B):c.1170CGG[4] (p.Gly399_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411dup) rs747790383
NM_001374828.1(ARID1B):c.1268C>T (p.Ala423Val) rs878853084
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup) rs797045267
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup) rs797045268
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.612_626del (p.Gln210_Gln214del) rs774668010
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup) rs587779744
NM_001377.3(DYNC2H1):c.11650-1G>A rs878852996
NM_001377299.1(NDUFS2):c.736C>A (p.Gln246Lys) rs878853093
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala) rs878853092
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001379210.1(SLC25A26):c.803_809del (p.Glu268fs) rs756882441
NM_001379500.1(COL18A1):c.2684-14TC[2] rs148455528
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) rs371849586
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) rs770066826
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001385079.1(PDE10A):c.1889+7A>G rs1554258681
NM_001385875.1(ZFYVE27):c.263_266del (p.Asn88fs) rs763098145
NM_001386885.1(APOL4):c.323_324dup (p.Phe109fs) rs5845253
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001497.4(B4GALT1):c.1064+5A>T rs182359666
NM_001605.3(AARS1):c.922G>A (p.Ala308Thr) rs771185869
NM_001673.5(ASNS):c.478del (p.Glu160fs) rs797045307
NM_001673.5(ASNS):c.775+18_775+19dup rs36021744
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001844.5(COL2A1):c.2492G>T (p.Gly831Val) rs1555166013
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001852.4(COL9A2):c.1114C>T (p.Pro372Ser) rs1057520157
NM_001852.4(COL9A2):c.25C>G (p.Arg9Gly) rs749827333
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp) rs199551387
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001961.4(EEF2):c.1784C>T (p.Ser595Phe) rs1555683985
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_002161.6(IARS1):c.1382_1383del (p.Arg461fs) rs1057520159
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002282.3(KRT83):c.666C>A (p.Cys222Ter) rs2857667
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del) rs878852993
NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) rs1057520107
NM_002488.5(NDUFA2):c.225del (p.Asn76fs) rs863224084
NM_002547.3(OPHN1):c.1814C>T (p.Ser605Phe) rs779671497
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002641.4(PIGA):c.68dup (p.Ser24fs) rs879255543
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) rs761080016
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.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002906.4(RDX):c.467+1G>A rs1057520174
NM_003042.4(SLC6A1):c.1732G>C (p.Val578Leu) rs369359690
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[1] (p.347SGSS[1]) rs751221446
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003108.4(SOX11):c.429CGG[7] (p.Gly147_Gly148dup) rs749379484
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003194.4(TBP):c.276_281dup (p.Gln95_Ala96insGlnGln) rs752404282
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003332.4(TYROBP):c.142A>G (p.Met48Val) rs1057520133
NM_003344.4(UBE2H):c.136T>C (p.Tyr46His) rs1554434216
NM_003383.5(VLDLR):c.1023G>T (p.Glu341Asp) rs368621966
NM_003482.4(KMT2D):c.10192A>C (p.Met3398Leu) rs75937132
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.1845dup (p.Pro616fs) rs1555197320
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2T>C (p.Met1Thr) rs1057520167
NM_003482.4(KMT2D):c.8841_8844del (p.His2947fs) rs1555190924
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) rs1553535841
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003730.6(RNASET2):c.643G>A (p.Glu215Lys) rs41269593
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_003907.3(EIF2B5):c.613G>A (p.Val205Met) rs1057520047
NM_003922.4(HERC1):c.4464-25dup rs369792267
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.85_87del (p.Phe29del) rs1555342003
NM_004035.7(ACOX1):c.532G>A (p.Gly178Ser) rs118204091
NM_004171.4(SLC1A2):c.668C>A (p.Pro223Gln) rs142741081
NM_004187.5(KDM5C):c.1025G>T (p.Cys342Phe) rs1556850832
NM_004187.5(KDM5C):c.224T>C (p.Leu75Pro) rs1057520198
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.3523C>T (p.Gln1175Ter) rs879192998
NM_004273.5(CHST3):c.1052C>T (p.Ser351Phe) rs1057520111
NM_004287.5(GOSR2):c.83A>C (p.Gln28Pro) rs1057520082
NM_004366.6(CLCN2):c.1981T>A (p.Ser661Thr) rs115380062
NM_004366.6(CLCN2):c.2415+4_2415+5dup rs146494980
NM_004369.4(COL6A3):c.2210G>T (p.Ser737Ile) rs1553561974
NM_004369.4(COL6A3):c.5126T>A (p.Val1709Glu) rs1553556583
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter) rs886043113
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3341del (p.Pro1114fs) rs1057520072
NM_004380.3(CREBBP):c.4520T>C (p.Leu1507Pro) rs1057520191
NM_004387.4(NKX2-5):c.335-311_335-310del rs774726585
NM_004426.3(PHC1):c.1272GCA[4] (p.Gln438_Gln439del) rs368945524
NM_004429.5(EFNB1):c.101_114dup (p.Ser39fs) rs879255545
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) rs878853006
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004456.5(EZH2):c.745G>A (p.Glu249Lys) rs1057520183
NM_004463.3(FGD1):c.1101+20G>C rs146079207
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004544.4(NDUFA10):c.1000-10del rs863224081
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004606.5(TAF1):c.830AGG[3] (p.Glu278dup) rs773753966
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004793.4(LONP1):c.727AAG[1] (p.Lys244del) rs560898148
NM_004830.4(MED23):c.1932-1G>A rs878853110
NM_004836.7(EIF2AK3):c.1650+1G>A rs1205989324
NM_004849.4(ATG5):c.62C>G (p.Thr21Arg) rs1333025395
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004963.4(GUCY2C):c.1283-16G>T rs112926992
NM_004963.4(GUCY2C):c.2318G>A (p.Arg773Gln) rs1057520052
NM_004963.4(GUCY2C):c.628G>A (p.Glu210Lys) rs1057520084
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_005005.3(NDUFB9):c.477G>C (p.Lys159Asn) rs774020236
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.4937-5_4937-4dup rs35268159
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005120.3(MED12):c.4009G>A (p.Glu1337Lys) rs1057520129
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005236.3(ERCC4):c.755del (p.Leu252fs) rs1057520104
NM_005236.3(ERCC4):c.89A>C (p.Asp30Ala) rs878853037
NM_005249.5(FOXG1):c.202C>T (p.Pro68Ser) rs796052479
NM_005271.5(GLUD1):c.921+8C>A rs148463565
NM_005273.4(GNB2):c.229G>T (p.Gly77Trp) rs1804373189
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.5374G>T (p.Gly1792Cys) rs878853049
NM_005360.5(MAF):c.544CAC[5] (p.His187del) rs1029898670
NM_005378.6(MYCN):c.935G>A (p.Arg312Lys) rs200236475
NM_005419.4(STAT2):c.382-9dup rs774277532
NM_005422.4(TECTA):c.5760C>A (p.Asn1920Lys) rs1057520192
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005559.4(LAMA1):c.2808+6A>G rs377734734
NM_005589.4(ALDH6A1):c.1306del (p.Gln436fs) rs1555376629
NM_005612.5(REST):c.2464del (p.Glu822fs) rs1553904359
NM_005629.4(SLC6A8):c.262+6T>C rs878853039
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005787.6(ALG3):c.604A>C (p.Ser202Arg) rs1553828635
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006013.5(RPL10):c.492+4T>A rs782342444
NM_006015.6(ARID1A):c.1207C>T (p.Gln403Ter) rs878853088
NM_006015.6(ARID1A):c.193C>G (p.Pro65Ala) rs1429977258
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006019.4(TCIRG1):c.-5+560dup rs5792431
NM_006019.4(TCIRG1):c.2279TGGGCC[3] (p.760LG[3]) rs199973759
NM_006059.4(LAMC3):c.2439C>G (p.Ser813Arg) rs61637370
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup) rs1057520165
NM_006129.5(BMP1):c.208C>T (p.Gln70Ter) rs1422817588
NM_006147.4(IRF6):c.1221_1230del (p.Gly408fs) rs1057520168
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006420.3(ARFGEF2):c.2534-16T>C rs762677684
NM_006420.3(ARFGEF2):c.3169C>T (p.Gln1057Ter) rs1057520166
NM_006494.4(ERF):c.879del (p.Ser295fs) rs1555750642
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006618.5(KDM5B):c.1625_1626del (p.Phe542fs) rs755833290
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del) rs747034971
NM_006772.3(SYNGAP1):c.3824G>T (p.Arg1275Leu) rs1057520146
NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro) rs878853035
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006929.5(SKIC2):c.1046C>A (p.Ala349Asp) rs878853054
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007098.4(CLTCL1):c.3306C>A (p.Cys1102Ter) rs1555944889
NM_007118.4(TRIO):c.6715A>G (p.Thr2239Ala) rs1394971633
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.265dup (p.Val89fs) rs879255541
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007327.4(GRIN1):c.2008C>A (p.Pro670Thr) rs1057520055
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_012216.4(MID2):c.1074-4del rs758037994
NM_012216.4(MID2):c.1447del (p.Ser483fs) rs1602511836
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3907A>G (p.Ser1303Gly) rs1057520090
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile) rs181420326
NM_012431.3(SEMA3E):c.337-11del rs536827692
NM_012470.4(TNPO3):c.1090A>G (p.Ile364Val) rs983345752
NM_012473.4(TXN2):c.35C>T (p.Ala12Val) rs534944987
NM_013245.3(VPS4A):c.719_722del (p.Glu240fs) rs1057520199
NM_013275.6(ANKRD11):c.-59-7254G>A rs147430058
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013296.5(GPSM2):c.1393C>T (p.Gln465Ter) rs1553215684
NM_013296.5(GPSM2):c.1473del (p.Phe492fs) rs772372530
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.787del (p.Leu263fs) rs1554598891
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014208.3(DSPP):c.3024CAGCAGTGA[1] (p.1005DSS[3]) rs762157486
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_014271.4(IL1RAPL1):c.845A>G (p.Tyr282Cys) rs1057520128
NM_014319.5(LEMD3):c.2007G>A (p.Met669Ile) rs1057520093
NM_014324.6(AMACR):c.781A>T (p.Met261Leu) rs878852990
NM_014332.3(SMPX):c.99dup (p.Arg34fs) rs398122930
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) rs765626875
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014491.3(FOXP2):c.618_620dupGCA
NM_014680.5(BLTP2):c.5954T>C (p.Leu1985Pro) rs1555539031
NM_014795.4(ZEB2):c.1115del (p.Lys372fs) rs878853016
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.73+1del rs786204813
NM_014920.5(CILK1):c.831+5del rs200780900
NM_014946.4(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014963.3(SBNO2):c.3177_3189dup (p.Tyr1064fs) rs1555717920
NM_015047.3(EMC1):c.287-1G>A rs751484278
NM_015087.5(SPART):c.1826T>C (p.Ile609Thr) rs1057520118
NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del) rs782660284
NM_015158.5(KANK1):c.3554-10_3554-5del rs58169581
NM_015215.4(CAMTA1):c.806-5del rs200318010
NM_015272.5(RPGRIP1L):c.1700-16G>T rs1555604481
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter) rs1057520162
NM_015275.3(WASHC4):c.2054G>A (p.Arg685Gln) rs878853065
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015330.6(SPECC1L):c.3293G>A (p.Arg1098Gln) rs1555874726
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
NM_015338.6(ASXL1):c.3910C>G (p.Leu1304Val) rs747267907
NM_015346.3(ZFYVE26):c.5657_5666delTAGACAGCTC (p.Leu1886Profs)
NM_015352.2(POFUT1):c.542+11G>T rs139014980
NM_015404.4(WHRN):c.740C>G (p.Pro247Arg) rs1478823101
NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn) rs1057520050
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser) rs765879627
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015570.4(AUTS2):c.3377ACC[10] (p.His1132_His1133dup) rs538005366
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup) rs538005366
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val) rs150926322
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015909.4(NBAS):c.2167C>T (p.Gln723Ter) rs1278049478
NM_015909.4(NBAS):c.3348T>G (p.Asp1116Glu) rs1553301551
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln) rs149009126
NM_016120.4(RLIM):c.-23-12_-23-11del rs753306232
NM_016138.5(COQ7):c.614_617dup (p.Cys207fs) rs1555522801
NM_016213.5(TRIP4):c.350C>T (p.Ala117Val) rs1555408852
NM_016252.4(BIRC6):c.7976_7979dup (p.Leu2661fs) rs1553461069
NM_016343.4(CENPF):c.1630del (p.Lys543_Ile544insTer) rs1553288555
NM_016343.4(CENPF):c.4171G>T (p.Glu1391Ter) rs141352776
NM_016373.4(WWOX):c.231-17C>A rs372361154
NM_016401.4(HIKESHI):c.31-1G>T rs1057520064
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016604.4(KDM3B):c.4549C>T (p.Arg1517Ter) rs1554131871
NM_016628.5(WAC):c.437A>G (p.Tyr146Cys) rs1554787110
NM_016648.4(LARP7):c.1213dup (p.Thr405fs) rs750946801
NM_016824.5(ADD3):c.2119TAAA[1] (p.Ter707=) rs753541585
NM_016953.4(PDE11A):c.2632A>G (p.Met878Val) rs74357545
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1]) rs1028125077
NM_017777.4(MKS1):c.272A>C (p.Asp91Ala) rs1404195978
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017802.4(DNAAF5):c.1024+11G>T rs201554395
NM_017827.4(SARS2):c.393+149del rs375344827
NM_017882.3(CLN6):c.682G>A (p.Gly228Ser) rs1057520095
NM_018013.4(SOBP):c.2232GCC[6] (p.Pro751del) rs541688197
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018136.5(ASPM):c.2120T>A (p.Leu707Ter) rs1553227015
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018714.3(COG1):c.153G>A (p.Met51Ile) rs976164079
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018993.4(RIN2):c.-36-2865del rs72242041
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019109.5(ALG1):c.1150G>C (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019885.4(CYP26B1):c.1259C>G (p.Ala420Gly) rs7568553
NM_019892.6(INPP5E):c.279G>T (p.Arg93Ser) rs1057520153
NM_020066.5(FMN2):c.2844_2876del (p.Ala952_Ala962del) rs758726356
NM_020435.4(GJC2):c.970G>A (p.Ala324Thr) rs1553262578
NM_020458.4(TTC7A):c.563G>T (p.Arg188Leu) rs147471840
NM_020461.4(TUBGCP6):c.3500C>T (p.Ala1167Val) rs1156839408
NM_020699.4(GATAD2B):c.655C>T (p.Gln219Ter) rs1553188335
NM_020738.4(KIDINS220):c.2401A>G (p.Ile801Val) rs1468255671
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp) rs145086947
NM_020745.4(AARS2):c.2850G>T (p.Met950Ile) rs1554147408
NM_020751.3(COG6):c.483A>C (p.Gln161His) rs146054602
NM_020806.5(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020810.3(TRMT5):c.535C>A (p.His179Asn) rs76079086
NM_020822.3(KCNT1):c.808C>G (p.Gln270Glu) rs1554771476
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020988.3(GNAO1):c.983A>G (p.Asp328Gly) rs878853051
NM_021008.4(DEAF1):c.1544G>A (p.Cys515Tyr) rs1057520182
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021074.5(NDUFV2):c.434_435del (p.Asn144_Ser145insTer) rs749693247
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser) rs1057520145
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106
NM_021120.4(DLG3):c.1405+5_1405+7del rs797045525
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021957.4(GYS2):c.956A>T (p.Asp319Val) rs1057520068
NM_022114.4(PRDM16):c.827del (p.Gly276fs) rs1057520188
NM_022168.4(IFIH1):c.1328A>G (p.Asp443Gly) rs878853066
NM_022168.4(IFIH1):c.1656G>T (p.Glu552Asp) rs1160814545
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter) rs1057520076
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter) rs118203996
NM_022455.5(NSD1):c.4918T>A (p.Cys1640Ser) rs878853111
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) rs869025670
NM_024105.4(ALG12):c.1288A>G (p.Thr430Ala) rs878852984
NM_024120.5(NDUFAF5):c.264-3dup rs751750631
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024408.4(NOTCH2):c.660C>A (p.Ser220Arg) rs112650847
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024665.7(TBL1XR1):c.1336T>G (p.Tyr446Asp) rs1553808301
NM_024678.6(NARS2):c.47C>T (p.Ser16Phe) rs777015479
NM_024706.5(ZNF668):c.1009A>G (p.Lys337Glu) rs1555498115
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024757.5(EHMT1):c.824-1G>T rs1354730657
NM_024809.5(TCTN2):c.810C>A (p.Asp270Glu) rs144567556
NM_024824.5(ZC3H14):c.235+14_235+15insATT rs10682918
NM_025074.7(FRAS1):c.109-15del rs548267943
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.970A>G (p.Ile324Val) rs1555224610
NM_025137.4(SPG11):c.258-6del rs373234269
NM_030653.4(DDX11):c.1160_1165del (p.Asp387_Gln388del) rs1057520059
NM_030653.4(DDX11):c.2223C>G (p.Ser741Arg) rs151210946
NM_030665.4(RAI1):c.1775G>A (p.Arg592Gln) rs141808855
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030930.4(UNC93B1):c.1120C>G (p.Arg374Gly) rs751962660
NM_031206.7(LAS1L):c.1505G>C (p.Arg502Pro) rs202068829
NM_031407.7(HUWE1):c.11497G>C (p.Gly3833Arg) rs782335134
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864
NM_031443.4(CCM2):c.122del (p.Pro41fs) rs1057520070
NM_031483.7(ITCH):c.131A>G (p.Glu44Gly) rs1057520172
NM_031844.3(HNRNPU):c.628dup (p.Ala210fs) rs1057520065
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter) rs1057520080
NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu) rs544077645
NM_032119.4(ADGRV1):c.564G>C (p.Glu188Asp) rs377529304
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032322.4(RNF135):c.901del (p.Gln301fs) rs773691749
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033305.3(VPS13A):c.8209G>T (p.Glu2737Ter) rs1057520049
NM_033380.3(COL4A5):c.1111G>A (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.2031_2038del (p.Gly678fs) rs878853017
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.4549del (p.Arg1517fs) rs878853030
NM_033419.5(PGAP3):c.32del (p.Leu11fs) rs1057520108
NM_033629.6(TREX1):c.400C>T (p.Leu134Phe) rs878853087
NM_052874.5(STX1B):c.215A>G (p.Gln72Arg) rs748657799
NM_054021.2(GPR101):c.924G>A (p.Glu308=) rs73637412
NM_058004.4(PI4KA):c.3559C>T (p.Gln1187Ter) rs1555884508
NM_078470.6(COX15):c.988-8C>A rs542092025
NM_080680.3(COL11A2):c.2295G>T (p.Arg765Ser) rs962608488
NM_080680.3(COL11A2):c.939+8T>C rs1554223902
NM_130797.4(DPP6):c.382AAG[2] (p.Lys130del) rs773861201
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) rs1555399937
NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg) rs957783084
NM_133259.4(LRPPRC):c.475G>A (p.Val159Met) rs1553411854
NM_133433.4(NIPBL):c.5051C>T (p.Thr1684Ile) rs774109272
NM_134261.3(RORA):c.1498C>T (p.Arg500Ter) rs1555421544
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6462T>G (p.Val2154=) rs878852998
NM_138694.4(PKHD1):c.779-13_779-12del rs5876252
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_144508.5(KNL1):c.5130dup (p.Ile1711fs) rs1555420936
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145261.4(DNAJC19):c.4-1G>A rs878852999
NM_145331.3(MAP3K7):c.745C>T (p.Pro249Ser) rs2127974491
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg) rs200713917
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser) rs1555392598
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_153240.5(NPHP3):c.1538T>C (p.Leu513Pro) rs1057520193
NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter) rs878853055
NM_153603.4(COG7):c.170-11_170-9del rs71379679
NM_170606.3(KMT2C):c.7826_7829dup (p.Pro2611fs) rs1554496279
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.829dup (p.Arg277fs) rs774958165
NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro) rs878853026
NM_173076.3(ABCA12):c.1649A>G (p.Glu550Gly) rs16853149
NM_173076.3(ABCA12):c.859C>G (p.Arg287Gly) rs11891778
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173602.3(DIP2B):c.998G>C (p.Cys333Ser) rs1006854230
NM_176787.5(PIGN):c.181G>T (p.Glu61Ter) rs200199765
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177402.5(SYT2):c.465+20_465+21del rs55968420
NM_178014.4(TUBB):c.533C>G (p.Thr178Ser) rs1057520046
NM_181453.4(GCC2):c.4045C>G (p.Gln1349Glu) rs1553442136
NM_181458.4(PAX3):c.505G>A (p.Glu169Lys) rs878853019
NM_181486.4(TBX5):c.456del (p.Val153fs) rs1057520136
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_182476.3(COQ6):c.164-12dup rs745746077
NM_182641.4(BPTF):c.5282del (p.Pro1761fs) rs1555652826
NM_182758.4(WDR72):c.1570-11dup rs34118367
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_183075.3(CYP2U1):c.-24_8del (p.Met1fs) rs747068538
NM_194292.3(SASS6):c.1036G>T (p.Asp346Tyr) rs1057520119
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198525.3(KIF7):c.2734AAG[1] (p.Lys913del) rs769890385
NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del) rs780942335
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) rs754621494
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln) rs201430180
NM_203447.4(DOCK8):c.5962-38_5962-17del rs771454295
NM_205768.3(ZBTB18):c.307A>T (p.Ile103Phe) rs1057520130
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207037.2(TCF12):c.1035+5G>A rs878853094
NM_207037.2(TCF12):c.1490_1491dup (p.Val498fs) rs1057520132
NM_207122.2(EXT2):c.2155T>G (p.Ter719Gly) rs1057520184
m.10158T>C rs199476117
m.1291T>C rs267606620
m.13513G>A rs267606897
m.1393G>A rs111033325
m.1462G>A rs111033326
m.14674T>C rs387906421
m.15497G>A rs199951903
m.4295A>G rs121434467
m.4336T>C rs41456348
m.8344A>G rs118192098

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